{ "metadata": { "name": "", "signature": "sha256:6d836a65c22fa637b47bfaf0f3f01d56507756c5a5dfd28795097429ae1aa113" }, "nbformat": 3, "nbformat_minor": 0, "worksheets": [ { "cells": [ { "cell_type": "markdown", "metadata": {}, "source": [ "###Analysis of Refseq annotations\n", "Unfortunately, due to the fact that on VEP's web interface, the refseq transcript set is grouped with \"other transcripts\" makes this analysis invalid. I've included this for completeness however." ] }, { "cell_type": "code", "collapsed": false, "input": [ "from IPython.display import HTML\n", "import pandas as pd\n", "import numpy as np\n", "import os\n", "import matplotlib.pyplot as plt\n", "from matplotlib_venn import venn3, venn3_circles, venn3_unweighted\n", "import seaborn\n", "%pylab inline" ], "language": "python", "metadata": {}, "outputs": [ { "output_type": "stream", "stream": "stdout", "text": [ "Populating the interactive namespace from numpy and matplotlib\n" ] } ], "prompt_number": 1 }, { "cell_type": "code", "collapsed": false, "input": [ "#These are defined by the way annovar defines precedence. I found empirically that stop_gain > frame_shift in annovar, hence the reverse\n", "precedence_dict = {\n", "\"splicing_variant\": 1,\n", "\"frameshift_variant\": 4,\n", "\"stop_gained\": 2,\n", "\"stop_lost\": 3,\n", "\"inframe_variant\": 5,\n", "\"nonsynonymous_variant\": 6,\n", "\"synonymous_variant\": 7,\n", "\"5_prime_UTR_variant\": 8,\n", "\"3_prime_UTR_variant\": 9,\n", "\"intron_variant\": 10,\n", "\"upstream_gene_variant\": 11,\n", "\"downstream_gene_variant\": 12,\n", "\"intergenic_variant\": 13,\n", "\"intron_variant\": 14,\n", "\"upstream_gene_variant\": 15,\n", "\"regulatory_region_variant\": 16,\n", "\"ignored\": 17\n", "}\n", "\n", "def ranked(col):\n", " return max(col, key=lambda val: -1*precedence_dict[val])" ], "language": "python", "metadata": {}, "outputs": [], "prompt_number": 2 }, { "cell_type": "code", "collapsed": false, "input": [ "with pd.get_store('classified_variant_store.h5') as store:\n", " snpeff_subset = store.get(\"cftr_snpeff_refseq_subset\")\n", "grouped_snpeff_subset = snpeff_subset.groupby([\"Gene_Name\", \"POS\", \"REF\", \"ALT\"])\n", "grouped_snpeff_subset = grouped_snpeff_subset.agg({\"normalized_so_snpeff\": ranked})\n", "grouped_snpeff_subset = grouped_snpeff_subset.rename(columns={\"normalized_so_snpeff\": \"normalized_so_snpeff_max\"}).reset_index()\n", "grouped_snpeff_subset = pd.merge(grouped_snpeff_subset, snpeff_subset, how=\"left\", on=[\"POS\", \"REF\", \"ALT\", \"Gene_Name\"])\n", "grouped_snpeff_subset = grouped_snpeff_subset[grouped_snpeff_subset[\"normalized_so_snpeff_max\"] == grouped_snpeff_subset[\"normalized_so_snpeff\"]]\n", "#kludge ties are broken by taking the first element in the group (ie randomly; this should only really effect the transcript level comparisons, ie hgvs etc)\n", "grouped_snpeff_subset = grouped_snpeff_subset.groupby([\"Gene_Name\", \"POS\", \"REF\", \"ALT\"]).first()\n", "agg_snpeff = grouped_snpeff_subset.reset_index()\n", "del agg_snpeff[\"normalized_so_snpeff_max\"]\n", "del grouped_snpeff_subset\n", "del snpeff_subset\n", "agg_snpeff.rename(columns={\"Gene_Name\":\"Gene\"}, inplace=True)\n", "agg_snpeff[100000:100050]" ], "language": "python", "metadata": {}, "outputs": [ { "html": [ "
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "
---|---|---|---|---|---|---|---|---|---|
100000 | \n", "CFTR | \n", "117199805 | \n", "A | \n", "AT | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+97*>+T | \n", "intron_variant | \n", "
100001 | \n", "CFTR | \n", "117199805 | \n", "A | \n", "ATCA | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+97*>+TCA | \n", "intron_variant | \n", "
100002 | \n", "CFTR | \n", "117199805 | \n", "A | \n", "C | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+96A>C | \n", "intron_variant | \n", "
100003 | \n", "CFTR | \n", "117199805 | \n", "A | \n", "G | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+96A>G | \n", "intron_variant | \n", "
100004 | \n", "CFTR | \n", "117199805 | \n", "A | \n", "T | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+96A>T | \n", "intron_variant | \n", "
100005 | \n", "CFTR | \n", "117199805 | \n", "AT | \n", "A | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+97*>-T | \n", "intron_variant | \n", "
100006 | \n", "CFTR | \n", "117199805 | \n", "ATA | \n", "A | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+97*>-TA | \n", "intron_variant | \n", "
100007 | \n", "CFTR | \n", "117199805 | \n", "ATAT | \n", "A | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+97*>-TAT | \n", "intron_variant | \n", "
100008 | \n", "CFTR | \n", "117199806 | \n", "T | \n", "A | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+97T>A | \n", "intron_variant | \n", "
100009 | \n", "CFTR | \n", "117199806 | \n", "T | \n", "C | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+97T>C | \n", "intron_variant | \n", "
100010 | \n", "CFTR | \n", "117199806 | \n", "T | \n", "G | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+97T>G | \n", "intron_variant | \n", "
100011 | \n", "CFTR | \n", "117199806 | \n", "T | \n", "TA | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98*>+A | \n", "intron_variant | \n", "
100012 | \n", "CFTR | \n", "117199806 | \n", "T | \n", "TAGT | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98*>+AGT | \n", "intron_variant | \n", "
100013 | \n", "CFTR | \n", "117199806 | \n", "T | \n", "TC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98*>+C | \n", "intron_variant | \n", "
100014 | \n", "CFTR | \n", "117199806 | \n", "T | \n", "TG | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98*>+G | \n", "intron_variant | \n", "
100015 | \n", "CFTR | \n", "117199806 | \n", "T | \n", "TGA | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98*>+GA | \n", "intron_variant | \n", "
100016 | \n", "CFTR | \n", "117199806 | \n", "T | \n", "TGAC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98*>+GAC | \n", "intron_variant | \n", "
100017 | \n", "CFTR | \n", "117199806 | \n", "T | \n", "TT | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98*>+T | \n", "intron_variant | \n", "
100018 | \n", "CFTR | \n", "117199806 | \n", "T | \n", "TTA | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98*>+TA | \n", "intron_variant | \n", "
100019 | \n", "CFTR | \n", "117199806 | \n", "TA | \n", "T | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98*>-A | \n", "intron_variant | \n", "
100020 | \n", "CFTR | \n", "117199806 | \n", "TAT | \n", "T | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98*>-AT | \n", "intron_variant | \n", "
100021 | \n", "CFTR | \n", "117199806 | \n", "TATA | \n", "T | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98*>-ATA | \n", "intron_variant | \n", "
100022 | \n", "CFTR | \n", "117199807 | \n", "A | \n", "AA | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99*>+A | \n", "intron_variant | \n", "
100023 | \n", "CFTR | \n", "117199807 | \n", "A | \n", "AC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99*>+C | \n", "intron_variant | \n", "
100024 | \n", "CFTR | \n", "117199807 | \n", "A | \n", "ACG | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99*>+CG | \n", "intron_variant | \n", "
100025 | \n", "CFTR | \n", "117199807 | \n", "A | \n", "ACTG | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99*>+CTG | \n", "intron_variant | \n", "
100026 | \n", "CFTR | \n", "117199807 | \n", "A | \n", "AG | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99*>+G | \n", "intron_variant | \n", "
100027 | \n", "CFTR | \n", "117199807 | \n", "A | \n", "AGTC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99*>+GTC | \n", "intron_variant | \n", "
100028 | \n", "CFTR | \n", "117199807 | \n", "A | \n", "AT | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99*>+T | \n", "intron_variant | \n", "
100029 | \n", "CFTR | \n", "117199807 | \n", "A | \n", "ATA | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99*>+TA | \n", "intron_variant | \n", "
100030 | \n", "CFTR | \n", "117199807 | \n", "A | \n", "C | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98A>C | \n", "intron_variant | \n", "
100031 | \n", "CFTR | \n", "117199807 | \n", "A | \n", "G | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98A>G | \n", "intron_variant | \n", "
100032 | \n", "CFTR | \n", "117199807 | \n", "A | \n", "T | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+98A>T | \n", "intron_variant | \n", "
100033 | \n", "CFTR | \n", "117199807 | \n", "AT | \n", "A | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99*>-T | \n", "intron_variant | \n", "
100034 | \n", "CFTR | \n", "117199807 | \n", "ATA | \n", "A | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99*>-TA | \n", "intron_variant | \n", "
100035 | \n", "CFTR | \n", "117199807 | \n", "ATAT | \n", "A | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99*>-TAT | \n", "intron_variant | \n", "
100036 | \n", "CFTR | \n", "117199808 | \n", "T | \n", "A | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99T>A | \n", "intron_variant | \n", "
100037 | \n", "CFTR | \n", "117199808 | \n", "T | \n", "C | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99T>C | \n", "intron_variant | \n", "
100038 | \n", "CFTR | \n", "117199808 | \n", "T | \n", "G | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+99T>G | \n", "intron_variant | \n", "
100039 | \n", "CFTR | \n", "117199808 | \n", "T | \n", "TA | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+100*>+A | \n", "intron_variant | \n", "
100040 | \n", "CFTR | \n", "117199808 | \n", "T | \n", "TC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+100*>+C | \n", "intron_variant | \n", "
100041 | \n", "CFTR | \n", "117199808 | \n", "T | \n", "TG | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+100*>+G | \n", "intron_variant | \n", "
100042 | \n", "CFTR | \n", "117199808 | \n", "T | \n", "TGA | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+100*>+GA | \n", "intron_variant | \n", "
100043 | \n", "CFTR | \n", "117199808 | \n", "T | \n", "TGC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+100*>+GC | \n", "intron_variant | \n", "
100044 | \n", "CFTR | \n", "117199808 | \n", "T | \n", "TGCT | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+100*>+GCT | \n", "intron_variant | \n", "
100045 | \n", "CFTR | \n", "117199808 | \n", "T | \n", "TT | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+100*>+T | \n", "intron_variant | \n", "
100046 | \n", "CFTR | \n", "117199808 | \n", "T | \n", "TTAC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+100*>+TAC | \n", "intron_variant | \n", "
100047 | \n", "CFTR | \n", "117199808 | \n", "TA | \n", "T | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+100*>-A | \n", "intron_variant | \n", "
100048 | \n", "CFTR | \n", "117199808 | \n", "TAT | \n", "T | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+100*>-AT | \n", "intron_variant | \n", "
100049 | \n", "CFTR | \n", "117199808 | \n", "TATT | \n", "T | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+100*>-ATT | \n", "intron_variant | \n", "
50 rows \u00d7 9 columns
\n", "\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "
---|---|---|---|---|---|---|---|---|
80000 | \n", "1080 | \n", "117182109 | \n", "A | \n", "C | \n", ". | \n", "missense_variant | \n", "NP_000483.3:p.Asn386HisNM_000492.3:c.1156A>C | \n", "nonsynonymous_variant | \n", "
80001 | \n", "1080 | \n", "117182109 | \n", "A | \n", "G | \n", ". | \n", "missense_variant | \n", "NP_000483.3:p.Asn386AspNM_000492.3:c.1156A>G | \n", "nonsynonymous_variant | \n", "
80002 | \n", "1080 | \n", "117182109 | \n", "A | \n", "T | \n", ". | \n", "missense_variant | \n", "NP_000483.3:p.Asn386TyrNM_000492.3:c.1156A>T | \n", "nonsynonymous_variant | \n", "
80003 | \n", "1080 | \n", "117182109 | \n", "AA | \n", "A | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Asn386ThrfsTer2NM_000492.3:c.115... | \n", "frameshift_variant | \n", "
80004 | \n", "1080 | \n", "117182109 | \n", "AAC | \n", "A | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Asn386IlefsTer24NM_000492.3:c.11... | \n", "frameshift_variant | \n", "
80005 | \n", "1080 | \n", "117182109 | \n", "AACT | \n", "A | \n", ". | \n", "inframe_deletion | \n", "NP_000483.3:p.Asn386_Leu387delinsIleNM_000492.... | \n", "inframe_variant | \n", "
80006 | \n", "1080 | \n", "117182110 | \n", "A | \n", "AA | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Asn386LysfsTer25NM_000492.3:c.11... | \n", "frameshift_variant | \n", "
80007 | \n", "1080 | \n", "117182110 | \n", "A | \n", "AAC | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Asn386LysfsTer3NM_000492.3:c.115... | \n", "frameshift_variant | \n", "
80008 | \n", "1080 | \n", "117182110 | \n", "A | \n", "AAG | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Asn386LysfsTer3NM_000492.3:c.115... | \n", "frameshift_variant | \n", "
80009 | \n", "1080 | \n", "117182110 | \n", "A | \n", "AATC | \n", ". | \n", "inframe_insertion | \n", "NP_000483.3:p.Asn386delinsLysSerNM_000492.3:c.... | \n", "inframe_variant | \n", "
80010 | \n", "1080 | \n", "117182110 | \n", "A | \n", "AC | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Thr388AsnfsTer23NM_000492.3:c.11... | \n", "frameshift_variant | \n", "
80011 | \n", "1080 | \n", "117182110 | \n", "A | \n", "ACAT | \n", ". | \n", "inframe_insertion | \n", "NP_000483.3:p.Asn386_Leu387insIleNM_000492.3:c... | \n", "inframe_variant | \n", "
80012 | \n", "1080 | \n", "117182110 | \n", "A | \n", "AG | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Asn386LysfsTer25NM_000492.3:c.11... | \n", "frameshift_variant | \n", "
80013 | \n", "1080 | \n", "117182110 | \n", "A | \n", "AT | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Thr388AsnfsTer23NM_000492.3:c.11... | \n", "frameshift_variant | \n", "
80014 | \n", "1080 | \n", "117182110 | \n", "A | \n", "C | \n", ". | \n", "missense_variant | \n", "NP_000483.3:p.Asn386ThrNM_000492.3:c.1157A>C | \n", "nonsynonymous_variant | \n", "
80015 | \n", "1080 | \n", "117182110 | \n", "A | \n", "G | \n", ". | \n", "missense_variant | \n", "NP_000483.3:p.Asn386SerNM_000492.3:c.1157A>G | \n", "nonsynonymous_variant | \n", "
80016 | \n", "1080 | \n", "117182110 | \n", "A | \n", "T | \n", ". | \n", "missense_variant | \n", "NP_000483.3:p.Asn386IleNM_000492.3:c.1157A>T | \n", "nonsynonymous_variant | \n", "
80017 | \n", "1080 | \n", "117182110 | \n", "AC | \n", "A | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Leu387TerNM_000492.3:c.1158delC | \n", "frameshift_variant | \n", "
80018 | \n", "1080 | \n", "117182110 | \n", "ACT | \n", "A | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Leu387AsnfsTer23NM_000492.3:c.11... | \n", "frameshift_variant | \n", "
80019 | \n", "1080 | \n", "117182110 | \n", "ACTT | \n", "A | \n", ". | \n", "inframe_deletion | \n", "NP_000483.3:p.Asn386_Leu387delinsLysNM_000492.... | \n", "inframe_variant | \n", "
80020 | \n", "1080 | \n", "117182111 | \n", "C | \n", "A | \n", ". | \n", "missense_variant | \n", "NP_000483.3:p.Asn386LysNM_000492.3:c.1158C>A | \n", "nonsynonymous_variant | \n", "
80021 | \n", "1080 | \n", "117182111 | \n", "C | \n", "CA | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Leu387IlefsTer24NM_000492.3:c.11... | \n", "frameshift_variant | \n", "
80022 | \n", "1080 | \n", "117182111 | \n", "C | \n", "CAC | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Leu387ThrfsTer2NM_000492.3:c.115... | \n", "frameshift_variant | \n", "
23 rows \u00d7 8 columns
\n", "\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|
2000 | \n", "ENSG00000001626 | \n", "117119399 | \n", "GGT | \n", "G | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2001 | \n", "ENSG00000001626 | \n", "117119399 | \n", "GGTA | \n", "G | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2002 | \n", "ENSG00000001626 | \n", "117119400 | \n", "G | \n", "A | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2003 | \n", "ENSG00000001626 | \n", "117119400 | \n", "G | \n", "C | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2004 | \n", "ENSG00000001626 | \n", "117119400 | \n", "G | \n", "GA | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2005 | \n", "ENSG00000001626 | \n", "117119400 | \n", "G | \n", "GAGC | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2006 | \n", "ENSG00000001626 | \n", "117119400 | \n", "G | \n", "GC | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2007 | \n", "ENSG00000001626 | \n", "117119400 | \n", "G | \n", "GG | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2008 | \n", "ENSG00000001626 | \n", "117119400 | \n", "G | \n", "GGCA | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2009 | \n", "ENSG00000001626 | \n", "117119400 | \n", "G | \n", "GT | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2010 | \n", "ENSG00000001626 | \n", "117119400 | \n", "G | \n", "GTA | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2011 | \n", "ENSG00000001626 | \n", "117119400 | \n", "G | \n", "GTG | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2012 | \n", "ENSG00000001626 | \n", "117119400 | \n", "G | \n", "T | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2013 | \n", "ENSG00000001626 | \n", "117119400 | \n", "GT | \n", "G | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2014 | \n", "ENSG00000001626 | \n", "117119400 | \n", "GTA | \n", "G | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2015 | \n", "ENSG00000001626 | \n", "117119400 | \n", "GTAA | \n", "G | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2016 | \n", "ENSG00000001626 | \n", "117119401 | \n", "T | \n", "A | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2017 | \n", "ENSG00000001626 | \n", "117119401 | \n", "T | \n", "C | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2018 | \n", "ENSG00000001626 | \n", "117119401 | \n", "T | \n", "G | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2019 | \n", "ENSG00000001626 | \n", "117119401 | \n", "T | \n", "TA | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2020 | \n", "ENSG00000001626 | \n", "117119401 | \n", "T | \n", "TAT | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2021 | \n", "ENSG00000001626 | \n", "117119401 | \n", "T | \n", "TC | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2022 | \n", "ENSG00000001626 | \n", "117119401 | \n", "T | \n", "TCGT | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2023 | \n", "ENSG00000001626 | \n", "117119401 | \n", "T | \n", "TG | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2024 | \n", "ENSG00000001626 | \n", "117119401 | \n", "T | \n", "TGCT | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2025 | \n", "ENSG00000001626 | \n", "117119401 | \n", "T | \n", "TGT | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2026 | \n", "ENSG00000001626 | \n", "117119401 | \n", "T | \n", "TT | \n", "splicing_variant | \n", "splicing | \n", "NaN | \n", "
2027 | \n", "ENSG00000001626 | \n", "117119401 | \n", "TA | \n", "T | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2028 | \n", "ENSG00000001626 | \n", "117119401 | \n", "TAA | \n", "T | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2029 | \n", "ENSG00000001626 | \n", "117119401 | \n", "TAAA | \n", "T | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2030 | \n", "ENSG00000001626 | \n", "117119402 | \n", "A | \n", "AA | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2031 | \n", "ENSG00000001626 | \n", "117119402 | \n", "A | \n", "AAG | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2032 | \n", "ENSG00000001626 | \n", "117119402 | \n", "A | \n", "AAGT | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2033 | \n", "ENSG00000001626 | \n", "117119402 | \n", "A | \n", "AC | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2034 | \n", "ENSG00000001626 | \n", "117119402 | \n", "A | \n", "ACAG | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2035 | \n", "ENSG00000001626 | \n", "117119402 | \n", "A | \n", "AG | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2036 | \n", "ENSG00000001626 | \n", "117119402 | \n", "A | \n", "AGT | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2037 | \n", "ENSG00000001626 | \n", "117119402 | \n", "A | \n", "AT | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2038 | \n", "ENSG00000001626 | \n", "117119402 | \n", "A | \n", "C | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2039 | \n", "ENSG00000001626 | \n", "117119402 | \n", "A | \n", "G | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2040 | \n", "ENSG00000001626 | \n", "117119402 | \n", "A | \n", "T | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2041 | \n", "ENSG00000001626 | \n", "117119402 | \n", "AA | \n", "A | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2042 | \n", "ENSG00000001626 | \n", "117119402 | \n", "AAA | \n", "A | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2043 | \n", "ENSG00000001626 | \n", "117119402 | \n", "AAAT | \n", "A | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2044 | \n", "ENSG00000001626 | \n", "117119403 | \n", "A | \n", "AA | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2045 | \n", "ENSG00000001626 | \n", "117119403 | \n", "A | \n", "AC | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2046 | \n", "ENSG00000001626 | \n", "117119403 | \n", "A | \n", "ACAG | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2047 | \n", "ENSG00000001626 | \n", "117119403 | \n", "A | \n", "ACT | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2048 | \n", "ENSG00000001626 | \n", "117119403 | \n", "A | \n", "ACTG | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
2049 | \n", "ENSG00000001626 | \n", "117119403 | \n", "A | \n", "AG | \n", "intron_variant | \n", "intronic | \n", "NaN | \n", "
50 rows \u00d7 7 columns
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
100000 | \n", "CFTR | \n", "117199805 | \n", "A | \n", "AT | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.1584+97*>+T | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
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32500 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
32500 | \n", "CFTR | \n", "117115644 | \n", "G | \n", "A | \n", ". | \n", "UPSTREAM | \n", "NM_000492.3 | \n", "\n", " | upstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
32501 | \n", "CFTR | \n", "117115644 | \n", "G | \n", "C | \n", ". | \n", "UPSTREAM | \n", "NM_000492.3 | \n", "\n", " | upstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
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32503 | \n", "CFTR | \n", "117115644 | \n", "G | \n", "GAC | \n", ". | \n", "UPSTREAM | \n", "NM_000492.3 | \n", "\n", " | upstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
32504 | \n", "CFTR | \n", "117115644 | \n", "G | \n", "GACG | \n", ". | \n", "UPSTREAM | \n", "NM_000492.3 | \n", "\n", " | upstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
83012 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
46611 | \n", "CFTR | \n", "117120014 | \n", "GGGA | \n", "G | \n", ". | \n", "UTR_5_PRIME | \n", "NM_000492.3 | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
46624 | \n", "CFTR | \n", "117120015 | \n", "GGA | \n", "G | \n", ". | \n", "UTR_5_PRIME | \n", "NM_000492.3 | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
46625 | \n", "CFTR | \n", "117120015 | \n", "GGAA | \n", "G | \n", ". | \n", "UTR_5_PRIME | \n", "NM_000492.3 | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
46628 | \n", "CFTR | \n", "117120016 | \n", "G | \n", "GA | \n", ". | \n", "UTR_5_PRIME | \n", "NM_000492.3 | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
46629 | \n", "CFTR | \n", "117120016 | \n", "G | \n", "GAGC | \n", ". | \n", "UTR_5_PRIME | \n", "NM_000492.3 | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
9940 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
48459 | \n", "CFTR | \n", "117120146 | \n", "ACCA | \n", "A | \n", ". | \n", "CODON_DELETION | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>-CCA | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48473 | \n", "CFTR | \n", "117120147 | \n", "CCAT | \n", "C | \n", ". | \n", "CODON_DELETION | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>-CAT | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48476 | \n", "CFTR | \n", "117120148 | \n", "C | \n", "CACT | \n", ". | \n", "CODON_INSERTION | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>+ACT | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48482 | \n", "CFTR | \n", "117120148 | \n", "C | \n", "CTGC | \n", ". | \n", "CODON_INSERTION | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>+TGC | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48487 | \n", "CFTR | \n", "117120148 | \n", "CATG | \n", "C | \n", ". | \n", "CODON_DELETION | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>-ATG | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
46483 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
48472 | \n", "CFTR | \n", "117120147 | \n", "CCA | \n", "C | \n", ". | \n", "FRAME_SHIFT | \n", "NM_000492.3 | \n", "p.X1X/c.1*>-CA | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48475 | \n", "CFTR | \n", "117120148 | \n", "C | \n", "CA | \n", ". | \n", "FRAME_SHIFT | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>+A | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48477 | \n", "CFTR | \n", "117120148 | \n", "C | \n", "CC | \n", ". | \n", "FRAME_SHIFT | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>+C | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48478 | \n", "CFTR | \n", "117120148 | \n", "C | \n", "CG | \n", ". | \n", "FRAME_SHIFT | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>+G | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48479 | \n", "CFTR | \n", "117120148 | \n", "C | \n", "CGC | \n", ". | \n", "FRAME_SHIFT | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>+GC | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
132305 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
48496 | \n", "CFTR | \n", "117120149 | \n", "A | \n", "C | \n", ". | \n", "NON_SYNONYMOUS_START | \n", "NM_000492.3 | \n", "p.Met1?/c.1A>C | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48497 | \n", "CFTR | \n", "117120149 | \n", "A | \n", "G | \n", ". | \n", "START_LOST | \n", "NM_000492.3 | \n", "p.Met1?/c.1A>G | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48498 | \n", "CFTR | \n", "117120149 | \n", "A | \n", "T | \n", ". | \n", "NON_SYNONYMOUS_START | \n", "NM_000492.3 | \n", "p.Met1?/c.1A>T | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48502 | \n", "CFTR | \n", "117120150 | \n", "T | \n", "A | \n", ". | \n", "START_LOST | \n", "NM_000492.3 | \n", "p.Met1?/c.2T>A | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48503 | \n", "CFTR | \n", "117120150 | \n", "T | \n", "C | \n", ". | \n", "START_LOST | \n", "NM_000492.3 | \n", "p.Met1?/c.2T>C | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
36437 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
48525 | \n", "CFTR | \n", "117120151 | \n", "G | \n", "GTGA | \n", ". | \n", "STOP_GAINED | \n", "NM_000492.3 | \n", "p.Gln2*/c.4*>+TGA | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48540 | \n", "CFTR | \n", "117120152 | \n", "C | \n", "T | \n", ". | \n", "STOP_GAINED | \n", "NM_000492.3 | \n", "p.Gln2*/c.4C>T | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48564 | \n", "CFTR | \n", "117120154 | \n", "G | \n", "GT | \n", ". | \n", "STOP_GAINED | \n", "NM_000492.3 | \n", "p.Arg3*/c.7*>+T | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48565 | \n", "CFTR | \n", "117120154 | \n", "G | \n", "GTA | \n", ". | \n", "STOP_GAINED | \n", "NM_000492.3 | \n", "p.Arg3*/c.7*>+TA | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48609 | \n", "CFTR | \n", "117120157 | \n", "G | \n", "GTAG | \n", ". | \n", "STOP_GAINED | \n", "NM_000492.3 | \n", "p.Ser4*/c.10*>+TAG | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
6778 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
48558 | \n", "CFTR | \n", "117120154 | \n", "G | \n", "A | \n", ". | \n", "SYNONYMOUS_CODING | \n", "NM_000492.3 | \n", "p.Gln2Gln/c.6G>A | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48580 | \n", "CFTR | \n", "117120155 | \n", "A | \n", "C | \n", ". | \n", "SYNONYMOUS_CODING | \n", "NM_000492.3 | \n", "p.Arg3Arg/c.7A>C | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48600 | \n", "CFTR | \n", "117120157 | \n", "G | \n", "A | \n", ". | \n", "SYNONYMOUS_CODING | \n", "NM_000492.3 | \n", "p.Arg3Arg/c.9G>A | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48642 | \n", "CFTR | \n", "117120160 | \n", "G | \n", "A | \n", ". | \n", "SYNONYMOUS_CODING | \n", "NM_000492.3 | \n", "p.Ser4Ser/c.12G>A | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48643 | \n", "CFTR | \n", "117120160 | \n", "G | \n", "C | \n", ". | \n", "SYNONYMOUS_CODING | \n", "NM_000492.3 | \n", "p.Ser4Ser/c.12G>C | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
11010 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
49201 | \n", "CFTR | \n", "117120199 | \n", "CAGG | \n", "C | \n", ". | \n", "SPLICE_SITE_DONOR | \n", "NM_000492.3 | \n", "\n", " | splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49214 | \n", "CFTR | \n", "117120200 | \n", "AGG | \n", "A | \n", ". | \n", "SPLICE_SITE_DONOR | \n", "NM_000492.3 | \n", "\n", " | splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49215 | \n", "CFTR | \n", "117120200 | \n", "AGGT | \n", "A | \n", ". | \n", "SPLICE_SITE_DONOR | \n", "NM_000492.3 | \n", "\n", " | splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49218 | \n", "CFTR | \n", "117120201 | \n", "G | \n", "GA | \n", ". | \n", "SPLICE_SITE_DONOR | \n", "NM_000492.3 | \n", "\n", " | splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49219 | \n", "CFTR | \n", "117120201 | \n", "G | \n", "GACT | \n", ". | \n", "SPLICE_SITE_DONOR | \n", "NM_000492.3 | \n", "\n", " | splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
5016 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
49247 | \n", "CFTR | \n", "117120203 | \n", "T | \n", "TA | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.53+3*>+A | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49248 | \n", "CFTR | \n", "117120203 | \n", "T | \n", "TAC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.53+3*>+AC | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49249 | \n", "CFTR | \n", "117120203 | \n", "T | \n", "TAGC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.53+3*>+AGC | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49250 | \n", "CFTR | \n", "117120203 | \n", "T | \n", "TC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.53+3*>+C | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49251 | \n", "CFTR | \n", "117120203 | \n", "T | \n", "TG | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.53+3*>+G | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
321983 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
187885 | \n", "CFTR | \n", "117307157 | \n", "CTTT | \n", "C | \n", ". | \n", "STOP_LOST | \n", "NM_000492.3 | \n", "p.X1480Glnext*?/c.4439*>-TTT | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187899 | \n", "CFTR | \n", "117307158 | \n", "TTTA | \n", "T | \n", ". | \n", "STOP_LOST | \n", "NM_000492.3 | \n", "p.X1480Leuext*?/c.4440*>-TTA | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187903 | \n", "CFTR | \n", "117307159 | \n", "T | \n", "TA | \n", ". | \n", "STOP_LOST | \n", "NM_000492.3 | \n", "p.*1481Xext*?/c.4441*>+A | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187905 | \n", "CFTR | \n", "117307159 | \n", "T | \n", "TC | \n", ". | \n", "STOP_LOST | \n", "NM_000492.3 | \n", "p.*1481Xext*?/c.4441*>+C | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187907 | \n", "CFTR | \n", "117307159 | \n", "T | \n", "TG | \n", ". | \n", "STOP_LOST | \n", "NM_000492.3 | \n", "p.*1481Xext*?/c.4441*>+G | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
160 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
187944 | \n", "CFTR | \n", "117307162 | \n", "G | \n", "GA | \n", ". | \n", "UTR_3_PRIME | \n", "NM_000492.3 | \n", "\n", " | 3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187945 | \n", "CFTR | \n", "117307162 | \n", "G | \n", "GC | \n", ". | \n", "UTR_3_PRIME | \n", "NM_000492.3 | \n", "\n", " | 3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187946 | \n", "CFTR | \n", "117307162 | \n", "G | \n", "GCA | \n", ". | \n", "UTR_3_PRIME | \n", "NM_000492.3 | \n", "\n", " | 3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187947 | \n", "CFTR | \n", "117307162 | \n", "G | \n", "GCAG | \n", ". | \n", "UTR_3_PRIME | \n", "NM_000492.3 | \n", "\n", " | 3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187948 | \n", "CFTR | \n", "117307162 | \n", "G | \n", "GG | \n", ". | \n", "UTR_3_PRIME | \n", "NM_000492.3 | \n", "\n", " | 3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
7970 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
188824 | \n", "CTTNBP2 | \n", "117349970 | \n", "C | \n", "A | \n", ". | \n", "DOWNSTREAM | \n", "NM_033427.2 | \n", "\n", " | downstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
188825 | \n", "CTTNBP2 | \n", "117349970 | \n", "C | \n", "CA | \n", ". | \n", "DOWNSTREAM | \n", "NM_033427.2 | \n", "\n", " | downstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
188826 | \n", "CTTNBP2 | \n", "117349970 | \n", "C | \n", "CAG | \n", ". | \n", "DOWNSTREAM | \n", "NM_033427.2 | \n", "\n", " | downstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
188827 | \n", "CTTNBP2 | \n", "117349970 | \n", "C | \n", "CAT | \n", ". | \n", "DOWNSTREAM | \n", "NM_033427.2 | \n", "\n", " | downstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
188828 | \n", "CTTNBP2 | \n", "117349970 | \n", "C | \n", "CC | \n", ". | \n", "DOWNSTREAM | \n", "NM_033427.2 | \n", "\n", " | downstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
75432 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
224357 | \n", "1080 | \n", "117115644 | \n", "G | \n", "A | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "upstream_gene_variant | \n", "\n", " | upstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
224358 | \n", "1080 | \n", "117115644 | \n", "G | \n", "C | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "upstream_gene_variant | \n", "\n", " | upstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
224359 | \n", "1080 | \n", "117115644 | \n", "G | \n", "GA | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "upstream_gene_variant | \n", "\n", " | upstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
224360 | \n", "1080 | \n", "117115644 | \n", "G | \n", "GAC | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "upstream_gene_variant | \n", "\n", " | upstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
224361 | \n", "1080 | \n", "117115644 | \n", "G | \n", "GACG | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "upstream_gene_variant | \n", "\n", " | upstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
70294 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
238468 | \n", "1080 | \n", "117120014 | \n", "GGGA | \n", "G | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "5_prime_UTR_variant | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
238481 | \n", "1080 | \n", "117120015 | \n", "GGA | \n", "G | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "5_prime_UTR_variant | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
238482 | \n", "1080 | \n", "117120015 | \n", "GGAA | \n", "G | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "5_prime_UTR_variant | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
238494 | \n", "1080 | \n", "117120016 | \n", "GA | \n", "G | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "5_prime_UTR_variant | \n", "NM_000492.3:c.-132delA | \n", "5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
238495 | \n", "1080 | \n", "117120016 | \n", "GAA | \n", "G | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "5_prime_UTR_variant | \n", "NM_000492.3:c.-132_-131delAA | \n", "5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
13796 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
240344 | \n", "1080 | \n", "117120148 | \n", "CATG | \n", "C | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "inframe_deletion | \n", "NP_000483.3:p.Met1?NM_000492.3:c.1_3delATG | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240349 | \n", "1080 | \n", "117120149 | \n", "A | \n", "AGAC | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "inframe_insertion | \n", "NP_000483.3:p.Met1?NM_000492.3:c.1_2insGAC | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240350 | \n", "1080 | \n", "117120149 | \n", "A | \n", "AGAT | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "inframe_insertion | \n", "NP_000483.3:p.Met1?NM_000492.3:c.1_2insGAT | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240358 | \n", "1080 | \n", "117120149 | \n", "ATGC | \n", "A | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "inframe_deletion | \n", "NP_000483.3:p.MetGln1_?2NM_000492.3:c.2_4delTGC | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240366 | \n", "1080 | \n", "117120150 | \n", "T | \n", "TGCA | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "inframe_insertion | \n", "NP_000483.3:p.Met1_Gln2insGlnNM_000492.3:c.2_3... | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
46597 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
240342 | \n", "1080 | \n", "117120148 | \n", "CA | \n", "C | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Met1CysfsTer?NM_000492.3:c.1delA | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240343 | \n", "1080 | \n", "117120148 | \n", "CAT | \n", "C | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Met1AlafsTer?NM_000492.3:c.1_2delAT | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240345 | \n", "1080 | \n", "117120149 | \n", "A | \n", "AA | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Met1AsnfsTer?NM_000492.3:c.1dupA | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240346 | \n", "1080 | \n", "117120149 | \n", "A | \n", "AC | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Met1ThrfsTer?NM_000492.3:c.1_2insC | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240347 | \n", "1080 | \n", "117120149 | \n", "A | \n", "AG | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "frameshift_variant | \n", "NP_000483.3:p.Met1SerfsTer?NM_000492.3:c.1_2insG | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
132883 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
240353 | \n", "1080 | \n", "117120149 | \n", "A | \n", "C | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "initiator_codon_variant | \n", "NP_000483.3:p.Met1?NM_000492.3:c.1A>C | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240354 | \n", "1080 | \n", "117120149 | \n", "A | \n", "G | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "initiator_codon_variant | \n", "NP_000483.3:p.Met1?NM_000492.3:c.1A>G | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240355 | \n", "1080 | \n", "117120149 | \n", "A | \n", "T | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "initiator_codon_variant | \n", "NP_000483.3:p.Met1?NM_000492.3:c.1A>T | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240359 | \n", "1080 | \n", "117120150 | \n", "T | \n", "A | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "initiator_codon_variant | \n", "NP_000483.3:p.Met1?NM_000492.3:c.2T>A | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240360 | \n", "1080 | \n", "117120150 | \n", "T | \n", "C | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "initiator_codon_variant | \n", "NP_000483.3:p.Met1?NM_000492.3:c.2T>C | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
36437 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
240382 | \n", "1080 | \n", "117120151 | \n", "G | \n", "GTGA | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "stop_gained | \n", "NP_000483.3:p.Met1_Gln2insTerNM_000492.3:c.3_4... | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240397 | \n", "1080 | \n", "117120152 | \n", "C | \n", "T | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "stop_gained | \n", "NP_000483.3:p.Gln2TerNM_000492.3:c.4C>T | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240466 | \n", "1080 | \n", "117120157 | \n", "G | \n", "GTAG | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "stop_gained | \n", "NP_000483.3:p.Arg3_Ser4insTerNM_000492.3:c.9_1... | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240475 | \n", "1080 | \n", "117120158 | \n", "T | \n", "TAGT | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "stop_gained | \n", "NP_000483.3:p.Arg3_Ser4insTerNM_000492.3:c.10_... | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240485 | \n", "1080 | \n", "117120159 | \n", "C | \n", "A | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "stop_gained | \n", "NP_000483.3:p.Ser4TerNM_000492.3:c.11C>A | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
6252 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
240415 | \n", "1080 | \n", "117120154 | \n", "G | \n", "A | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "synonymous_variant | \n", "NM_000492.3:c.6G>A(p.%3D)NM_000492.3:c.6G>A | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240437 | \n", "1080 | \n", "117120155 | \n", "A | \n", "C | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "synonymous_variant | \n", "NM_000492.3:c.7A>C(p.%3D)NM_000492.3:c.7A>C | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240457 | \n", "1080 | \n", "117120157 | \n", "G | \n", "A | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "synonymous_variant | \n", "NM_000492.3:c.9G>A(p.%3D)NM_000492.3:c.9G>A | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240499 | \n", "1080 | \n", "117120160 | \n", "G | \n", "A | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "synonymous_variant | \n", "NM_000492.3:c.12G>A(p.%3D)NM_000492.3:c.12G>A | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
240500 | \n", "1080 | \n", "117120160 | \n", "G | \n", "C | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "synonymous_variant | \n", "NM_000492.3:c.12G>C(p.%3D)NM_000492.3:c.12G>C | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
11010 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
241058 | \n", "1080 | \n", "117120199 | \n", "CAGG | \n", "C | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "splice_donor_variant | \n", "NM_000492.3:c.52_53+1delAGG | \n", "splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
241071 | \n", "1080 | \n", "117120200 | \n", "AGG | \n", "A | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "splice_donor_variant | \n", "NM_000492.3:c.53_53+1delGG | \n", "splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
241072 | \n", "1080 | \n", "117120200 | \n", "AGGT | \n", "A | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "splice_donor_variant | \n", "NM_000492.3:c.53_53+2delGGT | \n", "splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
241084 | \n", "1080 | \n", "117120201 | \n", "GG | \n", "G | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "splice_donor_variant | \n", "NM_000492.3:c.53+1delG | \n", "splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
241085 | \n", "1080 | \n", "117120201 | \n", "GGT | \n", "G | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "splice_donor_variant | \n", "NM_000492.3:c.53+1_53+2delGT | \n", "splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
5044 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
241104 | \n", "1080 | \n", "117120203 | \n", "T | \n", "TA | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "intron_variant | \n", "NM_000492.3:c.53+2_53+3insA | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
241105 | \n", "1080 | \n", "117120203 | \n", "T | \n", "TAC | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "intron_variant | \n", "NM_000492.3:c.53+2_53+3insAC | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
241106 | \n", "1080 | \n", "117120203 | \n", "T | \n", "TAGC | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "intron_variant | \n", "NM_000492.3:c.53+2_53+3insAGC | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
241107 | \n", "1080 | \n", "117120203 | \n", "T | \n", "TC | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "intron_variant | \n", "NM_000492.3:c.53+2_53+3insC | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
241108 | \n", "1080 | \n", "117120203 | \n", "T | \n", "TG | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "intron_variant | \n", "NM_000492.3:c.53+2_53+3insG | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
320838 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
379742 | \n", "1080 | \n", "117307157 | \n", "CTTT | \n", "C | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "stop_lost | \n", "NP_000483.3:p.LeuTer1480GlnNM_000492.3:c.4439_... | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
379755 | \n", "1080 | \n", "117307158 | \n", "TTT | \n", "T | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "stop_lost | \n", "NP_000483.3:p.Ter1481GluNM_000492.3:c.4440_444... | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
379756 | \n", "1080 | \n", "117307158 | \n", "TTTA | \n", "T | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "stop_lost | \n", "NP_000483.3:p.Ter1481delextTer3NM_000492.3:c.4... | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
379768 | \n", "1080 | \n", "117307159 | \n", "TT | \n", "T | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "stop_lost | \n", "NP_000483.3:p.Ter1481ArgNM_000492.3:c.4441delT | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
379769 | \n", "1080 | \n", "117307159 | \n", "TTA | \n", "T | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "stop_lost | \n", "NP_000483.3:p.Ter1481GluNM_000492.3:c.4441_444... | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
150 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
379784 | \n", "1080 | \n", "117307160 | \n", "TAGA | \n", "T | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "3_prime_UTR_variant | \n", "NM_000492.3:c.*1_4442delAGA | \n", "3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
379797 | \n", "1080 | \n", "117307161 | \n", "AGA | \n", "A | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "3_prime_UTR_variant | \n", "NM_000492.3:c.*1_4443delGA | \n", "3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
379798 | \n", "1080 | \n", "117307161 | \n", "AGAG | \n", "A | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "3_prime_UTR_variant | \n", "NM_000492.3:c.*2_4443delGAG | \n", "3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
379801 | \n", "1080 | \n", "117307162 | \n", "G | \n", "GA | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "3_prime_UTR_variant | \n", "NM_000492.3:c.*1_4443insA | \n", "3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
379802 | \n", "1080 | \n", "117307162 | \n", "G | \n", "GC | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "3_prime_UTR_variant | \n", "NM_000492.3:c.*1_4443insC | \n", "3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
8909 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
380681 | \n", "83992 | \n", "117349970 | \n", "C | \n", "A | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", ". | \n", "downstream_gene_variant | \n", "\n", " | downstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
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23302 rows
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32500 | \n", "CFTR | \n", "117115644 | \n", "G | \n", "A | \n", ". | \n", "UPSTREAM | \n", "NM_000492.3 | \n", "\n", " | upstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
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32502 | \n", "CFTR | \n", "117115644 | \n", "G | \n", "GA | \n", ". | \n", "UPSTREAM | \n", "NM_000492.3 | \n", "\n", " | upstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
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15534 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
46611 | \n", "CFTR | \n", "117120014 | \n", "GGGA | \n", "G | \n", ". | \n", "UTR_5_PRIME | \n", "NM_000492.3 | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
46624 | \n", "CFTR | \n", "117120015 | \n", "GGA | \n", "G | \n", ". | \n", "UTR_5_PRIME | \n", "NM_000492.3 | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
46625 | \n", "CFTR | \n", "117120015 | \n", "GGAA | \n", "G | \n", ". | \n", "UTR_5_PRIME | \n", "NM_000492.3 | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
46628 | \n", "CFTR | \n", "117120016 | \n", "G | \n", "GA | \n", ". | \n", "UTR_5_PRIME | \n", "NM_000492.3 | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
46629 | \n", "CFTR | \n", "117120016 | \n", "G | \n", "GAGC | \n", ". | \n", "UTR_5_PRIME | \n", "NM_000492.3 | \n", "\n", " | 5_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
7552 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
48459 | \n", "CFTR | \n", "117120146 | \n", "ACCA | \n", "A | \n", ". | \n", "CODON_DELETION | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>-CCA | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48473 | \n", "CFTR | \n", "117120147 | \n", "CCAT | \n", "C | \n", ". | \n", "CODON_DELETION | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>-CAT | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48476 | \n", "CFTR | \n", "117120148 | \n", "C | \n", "CACT | \n", ". | \n", "CODON_INSERTION | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>+ACT | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48482 | \n", "CFTR | \n", "117120148 | \n", "C | \n", "CTGC | \n", ". | \n", "CODON_INSERTION | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>+TGC | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48487 | \n", "CFTR | \n", "117120148 | \n", "CATG | \n", "C | \n", ". | \n", "CODON_DELETION | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>-ATG | \n", "inframe_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
24882 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
48472 | \n", "CFTR | \n", "117120147 | \n", "CCA | \n", "C | \n", ". | \n", "FRAME_SHIFT | \n", "NM_000492.3 | \n", "p.X1X/c.1*>-CA | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48475 | \n", "CFTR | \n", "117120148 | \n", "C | \n", "CA | \n", ". | \n", "FRAME_SHIFT | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>+A | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48477 | \n", "CFTR | \n", "117120148 | \n", "C | \n", "CC | \n", ". | \n", "FRAME_SHIFT | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>+C | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48478 | \n", "CFTR | \n", "117120148 | \n", "C | \n", "CG | \n", ". | \n", "FRAME_SHIFT | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>+G | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48479 | \n", "CFTR | \n", "117120148 | \n", "C | \n", "CGC | \n", ". | \n", "FRAME_SHIFT | \n", "NM_000492.3 | \n", "p.Met1X/c.1*>+GC | \n", "frameshift_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
69548 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
48496 | \n", "CFTR | \n", "117120149 | \n", "A | \n", "C | \n", ". | \n", "NON_SYNONYMOUS_START | \n", "NM_000492.3 | \n", "p.Met1?/c.1A>C | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48497 | \n", "CFTR | \n", "117120149 | \n", "A | \n", "G | \n", ". | \n", "START_LOST | \n", "NM_000492.3 | \n", "p.Met1?/c.1A>G | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48498 | \n", "CFTR | \n", "117120149 | \n", "A | \n", "T | \n", ". | \n", "NON_SYNONYMOUS_START | \n", "NM_000492.3 | \n", "p.Met1?/c.1A>T | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48502 | \n", "CFTR | \n", "117120150 | \n", "T | \n", "A | \n", ". | \n", "START_LOST | \n", "NM_000492.3 | \n", "p.Met1?/c.2T>A | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48503 | \n", "CFTR | \n", "117120150 | \n", "T | \n", "C | \n", ". | \n", "START_LOST | \n", "NM_000492.3 | \n", "p.Met1?/c.2T>C | \n", "nonsynonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
19460 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
48525 | \n", "CFTR | \n", "117120151 | \n", "G | \n", "GTGA | \n", ". | \n", "STOP_GAINED | \n", "NM_000492.3 | \n", "p.Gln2*/c.4*>+TGA | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48540 | \n", "CFTR | \n", "117120152 | \n", "C | \n", "T | \n", ". | \n", "STOP_GAINED | \n", "NM_000492.3 | \n", "p.Gln2*/c.4C>T | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48564 | \n", "CFTR | \n", "117120154 | \n", "G | \n", "GT | \n", ". | \n", "STOP_GAINED | \n", "NM_000492.3 | \n", "p.Arg3*/c.7*>+T | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48565 | \n", "CFTR | \n", "117120154 | \n", "G | \n", "GTA | \n", ". | \n", "STOP_GAINED | \n", "NM_000492.3 | \n", "p.Arg3*/c.7*>+TA | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48609 | \n", "CFTR | \n", "117120157 | \n", "G | \n", "GTAG | \n", ". | \n", "STOP_GAINED | \n", "NM_000492.3 | \n", "p.Ser4*/c.10*>+TAG | \n", "stop_gained | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
4588 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
48558 | \n", "CFTR | \n", "117120154 | \n", "G | \n", "A | \n", ". | \n", "SYNONYMOUS_CODING | \n", "NM_000492.3 | \n", "p.Gln2Gln/c.6G>A | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48580 | \n", "CFTR | \n", "117120155 | \n", "A | \n", "C | \n", ". | \n", "SYNONYMOUS_CODING | \n", "NM_000492.3 | \n", "p.Arg3Arg/c.7A>C | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48600 | \n", "CFTR | \n", "117120157 | \n", "G | \n", "A | \n", ". | \n", "SYNONYMOUS_CODING | \n", "NM_000492.3 | \n", "p.Arg3Arg/c.9G>A | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48642 | \n", "CFTR | \n", "117120160 | \n", "G | \n", "A | \n", ". | \n", "SYNONYMOUS_CODING | \n", "NM_000492.3 | \n", "p.Ser4Ser/c.12G>A | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
48643 | \n", "CFTR | \n", "117120160 | \n", "G | \n", "C | \n", ". | \n", "SYNONYMOUS_CODING | \n", "NM_000492.3 | \n", "p.Ser4Ser/c.12G>C | \n", "synonymous_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
5882 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
49201 | \n", "CFTR | \n", "117120199 | \n", "CAGG | \n", "C | \n", ". | \n", "SPLICE_SITE_DONOR | \n", "NM_000492.3 | \n", "\n", " | splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49214 | \n", "CFTR | \n", "117120200 | \n", "AGG | \n", "A | \n", ". | \n", "SPLICE_SITE_DONOR | \n", "NM_000492.3 | \n", "\n", " | splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49215 | \n", "CFTR | \n", "117120200 | \n", "AGGT | \n", "A | \n", ". | \n", "SPLICE_SITE_DONOR | \n", "NM_000492.3 | \n", "\n", " | splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49218 | \n", "CFTR | \n", "117120201 | \n", "G | \n", "GA | \n", ". | \n", "SPLICE_SITE_DONOR | \n", "NM_000492.3 | \n", "\n", " | splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49219 | \n", "CFTR | \n", "117120201 | \n", "G | \n", "GACT | \n", ". | \n", "SPLICE_SITE_DONOR | \n", "NM_000492.3 | \n", "\n", " | splicing_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
3252 rows
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
49247 | \n", "CFTR | \n", "117120203 | \n", "T | \n", "TA | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.53+3*>+A | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49248 | \n", "CFTR | \n", "117120203 | \n", "T | \n", "TAC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.53+3*>+AC | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49249 | \n", "CFTR | \n", "117120203 | \n", "T | \n", "TAGC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.53+3*>+AGC | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49250 | \n", "CFTR | \n", "117120203 | \n", "T | \n", "TC | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.53+3*>+C | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
49251 | \n", "CFTR | \n", "117120203 | \n", "T | \n", "TG | \n", ". | \n", "INTRON | \n", "NM_000492.3 | \n", "c.53+3*>+G | \n", "intron_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
173531 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
187885 | \n", "CFTR | \n", "117307157 | \n", "CTTT | \n", "C | \n", ". | \n", "STOP_LOST | \n", "NM_000492.3 | \n", "p.X1480Glnext*?/c.4439*>-TTT | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187899 | \n", "CFTR | \n", "117307158 | \n", "TTTA | \n", "T | \n", ". | \n", "STOP_LOST | \n", "NM_000492.3 | \n", "p.X1480Leuext*?/c.4440*>-TTA | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187903 | \n", "CFTR | \n", "117307159 | \n", "T | \n", "TA | \n", ". | \n", "STOP_LOST | \n", "NM_000492.3 | \n", "p.*1481Xext*?/c.4441*>+A | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187905 | \n", "CFTR | \n", "117307159 | \n", "T | \n", "TC | \n", ". | \n", "STOP_LOST | \n", "NM_000492.3 | \n", "p.*1481Xext*?/c.4441*>+C | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187907 | \n", "CFTR | \n", "117307159 | \n", "T | \n", "TG | \n", ". | \n", "STOP_LOST | \n", "NM_000492.3 | \n", "p.*1481Xext*?/c.4441*>+G | \n", "stop_lost | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
50 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
187944 | \n", "CFTR | \n", "117307162 | \n", "G | \n", "GA | \n", ". | \n", "UTR_3_PRIME | \n", "NM_000492.3 | \n", "\n", " | 3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187945 | \n", "CFTR | \n", "117307162 | \n", "G | \n", "GC | \n", ". | \n", "UTR_3_PRIME | \n", "NM_000492.3 | \n", "\n", " | 3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187946 | \n", "CFTR | \n", "117307162 | \n", "G | \n", "GCA | \n", ". | \n", "UTR_3_PRIME | \n", "NM_000492.3 | \n", "\n", " | 3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187947 | \n", "CFTR | \n", "117307162 | \n", "G | \n", "GCAG | \n", ". | \n", "UTR_3_PRIME | \n", "NM_000492.3 | \n", "\n", " | 3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
187948 | \n", "CFTR | \n", "117307162 | \n", "G | \n", "GG | \n", ". | \n", "UTR_3_PRIME | \n", "NM_000492.3 | \n", "\n", " | 3_prime_UTR_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
6897 rows
\n", " | Gene | \n", "POS | \n", "REF | \n", "ALT | \n", "ID_x | \n", "Effect | \n", "Transcript_ID | \n", "hgvs_snpeff | \n", "normalized_so_snpeff | \n", "ID_y | \n", "Consequence | \n", "hgvs_vep | \n", "normalized_so_vep | \n", "normalized_so_annovar | \n", "combined_effect | \n", "hgvs | \n", "
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
188824 | \n", "CTTNBP2 | \n", "117349970 | \n", "C | \n", "A | \n", ". | \n", "DOWNSTREAM | \n", "NM_033427.2 | \n", "\n", " | downstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
188825 | \n", "CTTNBP2 | \n", "117349970 | \n", "C | \n", "CA | \n", ". | \n", "DOWNSTREAM | \n", "NM_033427.2 | \n", "\n", " | downstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
188826 | \n", "CTTNBP2 | \n", "117349970 | \n", "C | \n", "CAG | \n", ". | \n", "DOWNSTREAM | \n", "NM_033427.2 | \n", "\n", " | downstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
188827 | \n", "CTTNBP2 | \n", "117349970 | \n", "C | \n", "CAT | \n", ". | \n", "DOWNSTREAM | \n", "NM_033427.2 | \n", "\n", " | downstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
188828 | \n", "CTTNBP2 | \n", "117349970 | \n", "C | \n", "CC | \n", ". | \n", "DOWNSTREAM | \n", "NM_033427.2 | \n", "\n", " | downstream_gene_variant | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "NaN | \n", "
9170 rows
0 rows
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