Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CR1_chr1_207491157_207646765	207555265	AGCCTTCA others(17088): Show AGCCTTCAGCAACCACCACCCTGATCAGTCAGCAGCCATCAACCTTGAGG CAAGACCCTCCACCAACAAAAAGATTACAAATTATTGAAGGTCAGATAAT CTTTAGTATTTTCTTATCAATAAACCTTTTTTTAAAGTATGACTTTGTTT AGACATAATGCTATTTCACACTTAATAGACTACCGTATAGTATAAACACA ACTTTTAGACTCACTGAGAAATCAAAAAATTCATCTGACTCATTTGTTGT GATATGTGTTTTATTGTGGTGGTCTGGAACTGAACCTGCAATATATTTGA GGAATGTCTGTAACACGAAGTGGGCGGCTTAATACAACAGAAGTTTTTGG AGTTCCATTCTAGAGACTGGAAATCCAAAATCAAGGTTTTGGGAGGGCCA CGCTCCCTCTGAATCCTGTAGGGAAGGATCCTTCATTGCATCTTCCAGCT TCTGGAGCCACAGGCCTTCCTTGGCATGTGGCAGCAGAACTCCAATTTCT GTCTCTGTCCTCATATGGCCATCTTCCCTCTGGGTCTGTGTCCTCATATG CTGTTCTCTCTGTGCATGTCTGTTTCCAAAGTTTTCCCTTTTAATAAGGA CACCAGTCACACTGGATTAGGGCCTACCTTCATGACCTCACCTTAACTTG ATTGCGTCTGCAAAGATCGTATTTCCAAATAAGGTCACATCCACAGGGAC TGGAGGTTAAGACTTCAGCATACTCAGGGGAGACACAATTCAACCTATAA CAGAGCCCCTTTGAAAATGTCAGGCATCAGGTGCTCACAGCACACGGTCC AGCTGTTGGTGCTCACCCTTGCTCAGCACACGGTGGAGGCTCTGCCTCAA TCTCATTCTTCATGGGAACAGCTAAGCCAGGTAGCGAATACGAGTTACGT TTGTGTCACCACAGCAGACACTGAAAGGAAGTTTGTGGTGTCCAGCACAT TTGCCAGCATAGGCCTCACAGACCACAACACCTAGAATCTGACAAAAATT AGAATAAATCCGATGTCTCCTTTTCTCTCTTTTTTTAAGCATTTTTAAAT ACAATTGGTAAATTTCCTGACTGTACCCTACTCATCTTGCATTGCTGAAT AAGTGAGGAACCTCTCTATGGCATGAAGCAGAAAACCATTGAGCTTATGA GAAGAAACAGGAAATACATGTAAAAGAGACCAGTCTGAAAAATCAGGAGA AATTTTACAAAAGAGATTTACTGCCAAGAAACCAGGGAAACTTTCAGAAC ACTCTCCTTTTCATATTTGTAACAAGATTCAATTGTACAAATACTTCTGT GAAACTAGCCATGAAGTGTGTACATGAATGAATATATGTATTCAGTGTGT TTATATATTTCATTTCATACATGTGATCTATATCATATATATATATATAT ATATATATATATATATCACAATGAATATTGCAGAAAATTAAAGCAAAGAG TAAGAAGAGTTAACCAAATGTTCCCTGAATGCAGTGGGAAAAGATGAAAA GGAGAAGACAGGCAAGCACAGTGGCTCACACATGTAATCCCAACATATTG AGAGGCCGGGGCAAGAGGATCACTTGAGCCCAGGAGCTCAAGACCAGCCT GGACAACATGGCAAAAACCCATCTCTACAAAAAAGTATAAAAATTAGCTG GGCATGGCAGCATGTGACTGTAGTCACAGCTAGGCAGGAGAATGAAGTGG GAGGATCACCTGAGCCCAGGAGGCTGAGGCTTCAGTGAGCCTTGATGGCA ACCCTGCACTCCAGCCTGGATGACAGAATGAGACCCTGTCTCAAAAAAGG AAAAAGAGAAGACATATGTAACACAGTGTCAGGATTCAAAATACATGTAG CAAAAATTCCAGAAGGGTAAGCAAATAAGCCCATACCTAGCCATCACTAG GGAAACTTCTGTGTTTCAGGGATAGAGAAAAAAACTCTGATTCCAGAAAT AAAATGTGAAAATATAATACCCGCAAAAGAAATAAATTTATTGACACCAC ATTGATTCTATATTGTATAAGATATATTGTATAACACTAAATTGTAGAAG ATAGCACTTCTCTTGAGCCAAGCTAATATGCACACCTAGAGGCTCCAGGT ACACATTAAAGGATAAGCAAAGACACAAAAATTGTACCATTTAAGTATGT TTCCCAGGCAATTCATAAGCAAATTTTTAAAAAGGAGAATGATGAATTCC AAAGGAAATCTCAATGAGATAGGATGTAGGTAAAAAGAAAAAACAACAAT AAAAAAAACATACACACAAAATCTTGGCAATGTAATAATAATTTATTAAT AATCTCTCTAAACTCATAGAATATATCAATAAAACTAGAAAATGTGAGAC AGCAAGAAAAGATAGGCTAGACTTACATTACAGAAAAGATGAGTAGACTG ACTATATAGAGTTTGACTCTAAAATTGAGAAAAGAGGTTTAAATATGTGT CACGTGTATATGTATAATATACATGCACACATATAAAATGAAATTCCTCA CTGGAAAAAATATTAAGTTTAATTTCCAAATTATTAGAATGACTAAAACA GTTGAATCTATCTGTTCCATATAGTAATTGAGGGGGAAGGAAAAGGAATA GCAAGGAATCCATTTTTCTCTTCCACCAGAAATAAGCTCCCTCATGTTTG GGTCAGGTCACTTTATTCATTGCTTTCTCCACATCCTCATCATTAGGCAT CATGAAATCAATGAAAAGGCAGTGAAAGAATGATGATGAAAGCTAATCAA ATGTATCATTTACCTCAATACGTTTGGTTTAATCTTCTTGTTGAAAGACA AATTCTCCTAGACAGGATCAAAAGCAACATATCTTGTATTTATAAAAAAC ATGTCTCAAGTAAAATGACATAGTATTATACACACACACACACATACACA CACACACACACATTAAGGGAAAATGCAGACAAAAAATGGCAGAAATAATA TTTAGAGAAAGATAGAATTTAAGAAAAAAAATTGTCAAACAGGTCTGCAA AATAATTGTTTTATTTTGGTGCCAGTTACAGTCCGCAATGAAGCGAAGAT ATTAAGAAGCAAAGTGGGCCAGGAGAAATTAGAGCAGAAATATCTCTTTC AATAGTGAGAGAATAGGAAAAAGAAGTAGAAAAGCTGGGAACAATAGGTA AAGTTTAGGCTAGGCCTTAGACTTCTCCTGCATTGTAATCCCTCTGGTTT GCCACATATGCATGCTGTCAGGAAGTTGATGAGGTATGTACAGCACAATT TATTTTCCATTTTTTGCCTTTAGGCACCGACTCATTGGTCACTCATCTGC TGAATGTATCCTCTCGGGCAATGCTGCCCATTGGAGCACGAAGCCGCCAA TTTGTCAACGTGAGTTGAAATCTCTTTCCCCATTCACCCCACCGTTTAAT CCTAGAGTTGTCCTCCTAGAATTACAAAGAATGGATCTCATCCCTCTTGG AAATGGTATCCTTCTCATATTTGAAGAATCCAGTCATATCCTTAAAATGG CTCACAGCATTCCAAACTTCCACCTTCAGCTAGAAATGCTTTTTTATTTT TTCTTATCTCAAGGTCTAATTTTTTTTAAACTAGTCTTTAGCTCACTTAA ACAGTCCCCCAATTTCATCCTCTGTTGGGTGAACACCTCCCAGTTTAAAG AGCATTTTATTTAGTGAAGTCAACAAATACAAAGTCAGTGAAAGAAACCC CATATCCTCTCTGCAAGCTCTTAGTATCACATCAGATATTCAAGCCATGC AGCTCTTTCTTCCTTCTTATTCTTTGTCTAAACAGGATCATGCCATCTTC CCTGTGAGTTGTTTGGAAGATGAGCTTTCTACATTTTGGGGAGCAAAGAC GAATGAGCAATTGCAAGCTAACAAGGAATATAAAATGTGTATAATCCTGG GTTTAGTGATGGTGTGAGGAAATCAGCAATTTCAAACCCAGTTGGTGGGA GGATAAGTGGGAACAAACTTTGTAGAAGGCCAATAAACTGGCTGGGCACT GCCCTACGGTAGAGTAGGACACAGTATTCAGTTCTTCCAAGATCAGACGA GATTGGGCGCATTTAGGGTGGTATGGTTGTAGATCAGTATCCAGTTCTTT TTATTATTTCTGAATCTGTAAGTATCATGTTTATTATATGTAATATTGTA TATTTGTACTTTGTCTTTGTTAGTTCTTCCAGAGCTTTTGTTCTTATTAT TTAATAAAGATGTTATACTGAGCCACATGTGGTGACTCAAACGTGTAATC CCAGCACTTTGGGAGGCCTAGGTGAGCAGATGGCTTGAGTCCAGGAGTTT GAGACCAGCCTGTACAACATACTGAAACGCTGTCTCTACAAAAATACAAA AACTATACGGGCATGGTGGCACATGCCTGTAGTCCCAACTACTCAGGAGA CTGAGAGGTGGGAGGATTGCTTGAGCCAGAGAGGTCGAGGCTGCAATGAG CCATGATCGTGCCACTGCACTCCAGTCTGGGCAGCAGAGCAAGACCTTGT CTCAAAAAAAATGCTATGCTGTATGCTTTATTATATTAATATCCAATAGA ATAAAGACACATGCCTTCTATATAGAGAGAACTAAATTAATAATGGTGAG ATAACAGTTAAATTCTCATTTAGCAGGAGAAATAAAAACATAGACTATAG GCTAGGCACAGTGGCTCATACCTGTAATCCCAGCACATTAGGAGGCTGAG GTGGGCAGATCACTTGAGGTCAGTAGTTTGAGACCACCCTGGCCAACATA ATGAAACCCCGCCTCTACTAAAAATACAAAAGTTAGCCGAGTTTGGTGGC GCATGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAATCGCTT GAACCTGGGAGGCAAGGGCTGCAGTGAGCCAAGATCACGCCACTGCACTC CAGCCTGGGGAACAGAGTGAGGATCTGTTAAAAAAAAAAAAAAAAAGTGG ACTCTAATAATACATGGACACATTTAGTGAAATAAACTTAACTGAGTAGA GCAGAACTTATAATATTTTAAAACTGTAAGAACATGTCTGTACATTAGCA AATAGTAGATGAGAATAGTATTTTCAATATTTACTTCTGGTAATTTGGAA TTAAAAAAAAAACTTTTGGGAAAATTTACAATAAAGTATGATTTTAACAA ACCAGGCTAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGAAAAG CAGAGGCATGCAGATTGCTTGAGGCCAGGAGTTCAAGACTAGCCTGCCCA ACATGGCCAAACCCCATCTCTACTAAAAATACAAAAATAAACCAGACATG GTAGTGCATGCCTGTGATCCCAGCTACTCGGGAAGTTGAGGTAGGAGGAT TGCTTGACCTGGGAAGTGGAGGTTGCAGTGAGCCATGATCGTGCCACTAC ACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCCCAAGGTTTTGTTTTGG TTAACTTGCTGTCCCTTTTTCCAGGAATTCCTTGTGGGCTACCCCCCACC ATCGCCAATGGAGATTTCATTAGCACCAACAGAGAGAATTTTCACTATGG ATCAGTGGTGACCTACCGCTGCAATCCTGGAAGCGGAGGGAGAAAGGTGT TTGAGCTTGTGGGTGAGCCCTCCATATACTGCACCAGCAATGACGATCAA GTGGGCATCTGGAGCGGCCCGGCCCCTCAGTGCATTATACCTAACAAATG CACGCCTCCAAATGTGGAAAATGGAATATTGGTATCTGACAACAGAAGCT TATTTTCCTTAAATGAAGTTGTGGAGTTTAGGTGTCAGCCTGGCTTTGTC ATGAAAGGACCCCGCCGTGTGAAGTGCCAGGCCCTGAACAAATGGGAGCC GGAGCTACCAAGCTGCTCCAGGGGTGAGTCTGACTGAGGCCTAGTAGGGC CCTGCAAGTGACATGCGTTGCTGTTGGATCAGGAGATTAGTATTTGTTCA CGGGGAGGGATGTGTGCTGAGCAGGGTCGAGGAGCAAATTTTCTAAGTAG TGAACATGAAATTCAGGTGTGTAGACATGTACATGTGCTGAAATTGAGAA GCAAAGCTCAACCTGGGCAAGGGATATGATGTTTCTTTGGGGTTCTTATA AACAGATCTATCAATTACCTTTGAGTATAATAATGTTTGATACAAAATGA GTGATTCCTCTGCCCAGGCACTATAATACAGGCTACATGTGAATTTTAAT CCTGAAAACAAAGTTATTAGGTAGTTCCCAGTTGTTCTATGTTTGTCTGT TTTGTTTTGCTTGAGATACTGTCTTGATCTGTCACTCAGGTTGGACTGCA GTGGTGCCATCATGGCATACTTCACCCTCCACCTCCCTGACTCAAGCAAG TCTCCTGCCTGAGCCTCCCAAGTAGCTGGGAATGTAGGTGCATGCCACCA TGCCTGGCTAAGTTTTTTATATTTTTTTTGTAGGGACAGAGTCTCACCAT GCTGCCCAGGCTGGTCTCAAACTCCTCAGCTCAAGCACCCACCCACCTTG GGCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCTCT ATGTTTTACAGAGAATATGTGCCTTAGACACATCAGATAACATTCTGAGA CAGTAACTTGCAGACAAAACTGGATTGCAAGTCCACCTCACTCCAGAGCC TTGGCTTTGCTCATCAGCATTCAGTCATGAAATCAAAACTTACTCTAGAT ACTTTCAAGGAGGGAGGGATTTCATGCAGGTTGTATTAGTCTGTTCTCAC ATTCCTATAAAAAACTACTTGAGCCTGGGTAATTTATAAAGAAAAGATGT TTAATTGACTCAGAGTTCTGTAGGCTGTACAGGAGGCATGGCTGGGAAAG TTACAATCATGGTGGAAGGCAAAGAGGAAGCACGCATATCTTCATATGCT TGGCAGGAGAGAGAGAGAGAGCAAGGCAGAGGTGTTACAGACTTTGAAAC AAGCAGATCTTGACAGAACTCTATCACAAGACAGCACTAGGGTGATGGTG CTCAACCATTAGAAACCACCTCCATGATCCAGTCACCTCCCACCAGGCTC CTTCTCCAACACTGGGAATTACCATTTGACATGAGATTTGGGAGGGGACA TAGAGCCAAACCATATCGCAGCTAATAGGTCACAAAAATGTTAGAAGGGC AGGAAAAGCAATAGGACAAAGGCAAAGTTACGAGAGATCAGGGAGCTGCT GTGGCTCCCAGTCTACAGCACAGGAGCCTGGAGTGATGGTGAAATGGCCA GCCCCTCCCACTGAGCAGGCAGCTCCCTGTAAGCTGCTAATACTGCAGGA GCCACCATTGCTGCCAGAATGCAGCTGATATTGCTGGAGCCAAAGTCATT GGCATCGTTACAATTGAAGCTGTAGCTACTCACTGAAGCCATCTATACTG CCACTGCCTGAGCCACTTCTAGAAGTAGAACAGATTCTGCCATCATCCTG CTTTTTAATTTGGTATATATGCCTCCAATTGGCAGAACCTAACCAGAGCC TAGCTATCAAGGAAGATGAACGATTTATTTTTAAGGCCTCCATTGTTAGC TGTCAAAAGACAGTGCAGAAGTGTGAGGCTGGGGGCCAACAGAAATTTAA CCAGCACAGCACCTCAATATTACATCACCAGGCATTGATTAGTCCAGGGA AACACTGGGTGATGAGCCCTGAAAATGGACATTACAGCATCAGAGTATTT ACAAACTCCTTAAAGAAGTCATTTTTCTATTCCAATCCCCCATTTGATGC TTGAGAAAGCTGAAGTCCAGAAAAGGGAACTGATCTGCTCAAAGACAAAC TGAAATTACTTTTTCCATTTTATAACAGTTTTATGTAATTTATTTGAGAT CCAAATGTGTTTTGATTTCCCAAGATCAGATCAACTACATTAAGAGAGAG CCTGAGATGCCGTTACAATATGTTGTGTGAAATTACACTCTCATTATGGT GACAGTAGGTCTTTCAGATTTTGTTCGACAGTTTCCCACCTTCTCACTGA AGTGAAATGAATGACTAGGCAGCACCTGCTACATAGCATGAAGAGAGGAG ACCCATAGTTCTTTACCACCCTATGTCAGGTGGCCGCTGAGAGAAGACTT GAAAGGAGATGAGCATAGATGTATGGACGCTCTTTGTTGCACCAGTGTGA TAGGTGATGGAGGGACCTATTAGATGGGACATGGGCAGGGGCACTCCTTT ATTGCTTAAAATGCAAGACTAAATTGGTGATGCCTTTCTAGAAAGGAAGT ATGAAGATACAAAAATCCATCATTCCTCCCAATTTTGTACTGGGTGAACA GTAATTGGAAGCATTCTAGAAGGAACTGTCCATTGTGAAATCTTAGTTGC ATACTTTAGATGAAAAACAATGAATTGGAGATACCTCTGTTTTAGTCACA GTTGTGCCATGTGTCAGTTCTATGACTGATGGCAAGACATCTTCCTTGCC CCGTGTATTTAGTTTATCAATGTAATAAGGCTGTTATTCTAACTTTATTA TTATATATAGATTCGTAATTATTATTCCCTTGGCCAGTTTAACAGTGAGA AAAAAGTTGTTTTCACACAATTAGCTGTACTTTGTTTCTCTCTCCCCAGT ATGTCAGCCACCTCCAGATGTCCTGCATGCTGAGCGTACCCAAAGGGACA AGGACAACTTTTCACCCGGGCAGGAAGTGTTCTACAGCTGTGAGCCCGGC TATGACCTCAGAGGGGCTGCGTCTATGCGCTGCACACCCCAGGGAGACTG GAGCCCTGCAGCCCCCACATGTGAAGGTGACTAGACTCTTATCTGGCTTG ATATTTTTAGCTTGCGTCTTTATTCTCCACATGCCAGTGATTTCTGTTCG TTTTTCTTTATCTCCAGTGAAATCCTGTGATGACTTCATGGGCCAACTTC TTAATGGCCGTGTGCTATTTCCAGTAAATCTCCAGCTTGGAGCAAAAGTG GATTTTGTTTGTGATGAAGGGTGAGTATGAGCTTGCCTGACCTGCTGGAC ATTGAAATTGGGGTTGGGAATCAGTCTAAAAAGGGGAGATTTGGTGTGGC TTAAAAGAAAGACACACACACACACACACACCTTCAGAGAGATGAACTTT CGAAAGTATACCTAGGAAGAAAGGAAAGAAACATATAGAACTAATAACAT GAGATATGAAGAGGAAACTGGAACATATATTAACTGGCAAGTTCAAAGGC AAGTATAACTAGTGGTTATGAATATATAGGTAACACATTAAGCAAAAAAT ATCAGCCAGGCACGGTGGCTCACGTGTGTAATCCCAGCACCTTTGGGAGG TTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGGACA ACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAGTTAGCTGGGTTTG GTGGCATGTGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCACCAGAAT CACTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCCGAGATGGCACCATTG CACTCCAGCGTGAACAATGAGTGAAACTCCATCTCAGGAAAAAAATCATA TTTTACAAGCAAAAGGGAATATGAGTAATTTAGAGAGTCCCAGGAAAAAT TGCAAGTAATGAAAAGCTTATTATTAAAAGCTAGGATCCTTTAAGAATCA TTTCAGTAAATTCTTTAAACCATCAACAGTGAAATTTGTAATAGGACTGA AAATGTAAAAATCAGCATTTTTTTAAAAATTCAGTCATATATCTTCTGGC TAGTCATGGGCTCTGGGCTCTGAGCTGGGGTCGTGATGGCTGCTGTTAAT ATTCCCAGCAAGGTCATTACCTTGTTTATGTCCATCTAGTGCTCTTCACA GCGTGCACATCTCTACACAGGAGCTGACCGGCATGGGCAACAAAGCACCT GATCCCATAATGTAACACAGAATCTTGGCAGCCTCCAAATGCCAGCACCC AGTAAGAGTTAGGAGGGCATCAGGGTCCAAAAGACTGAGAATTTTCGACA ATTGCATACAAAAATCATGTCCTCTCTTCTTTCCTTTTTCCCCTAGAATA TTCATGCTTACTCTTCAGCAGCCCAAACTGCCCTTTTGAGCCTTCTTCAC GCCATCACAGATGTGGAGATGAAAGGACAATCTCTGTTCTCTCGCCAGCT ATTTCCCACTTTTCCACTCCAAACTGGGAGCTGTTTTACTTGCTGTTCCA GGGTCAGAGTTAGGAAGGCATTACATTAGAAGACTGGGTTTCTAATAACA ACAATGAGTGATTTATCAGGTTATCATGGAGTAATCAGTGAAACTCCAAG CCTGGGTCCTGGGTCAAGGGGATGGCGCCTATGTCATGACCACCTTTTTC AATTCAAGCAGGACTATCATGTGACCAAGCTACTACATTTTGCCATTCTA TATTGTTCCCTTCTGGAGGCTGTGATTTTTCCAGAATAAGGTAGCCTGTG CAACTCTGCCATCTGCTGGCCTCAGATCCTCAAAATCCTGAAATTGGGGC TGGGCCTTAGATTGTGAACTAAGTGTCCTCTTGGCTGAAACAGCTCACTA TTCACTCCTATTTTCTTCTTTAGATTTCAATTAAAAGGCAGCTCTGCTAG TTATTGTGTCTTGGCTGGAATGGAAAGCCTTTGGAATAGCAGTGTTCCAG TGTGTGAACGTGAGTAATAGGAGCAACATTTCAGGCCAATCTCTCCCCTT CATCTGTTCACTATTTGTCCTATGGCCTCCCTCAATGTGATTCTTCAATA TTCTAGTCTTAATTATCGATTTAAAAATAGTTTATTTTAATAATGTTTGG TTGTGAATCAATATGTACATCACCTGTCTTTGCAACCATCTGATCTGTCT CTGTCCTTCTGCATTCTCTGTTCTAGTGCGATAAATCCTTTGGTCTTGTG CTCCTAGGTCAGGAGAGATTAGATAATGTGAAGCTTTAACAATTTTCTTT CTTTCTCTAGTTTTTTCTTTCTTTTTTCTCTTCCTTCCATCCTTCAGTTC TTTCTTCCCTTCTTCTCTCCTTCTCCCCTTTCTTCTTTCCTTCCTCCCTT CTTTCTTTTTCATTTTGTTCTCCCATCAAAGTGCAGTCAGTCTACAATTT ATATATATATGATAATACACAAATATTGAACATGGCTTTATTTAATCAAT ATTTATTGATCACATACTTTGTGCCTGATGTTCATCTAGCCACTGGAGTT ATATCAATGAACAAGATGGATGAATTCCCTGTCCCCATGTTGTTTCTACT TAGGTGGGGAGAGGGACAAGAAAAAAAATAAATTCAATGCTATGAGACAA TAGAGCAAAGCACTGAGGAATGAGGCAAAAATGGGGAGCAACATTAGACA GGGTGAGCAGTTTGAGACTCCTTAAATTCTCAAAACATGTACCTAAATAA TTTATGCTGAGAGATTCATAAATAATAAGTCATTTTTTTAAAATGAGCCT CATATGTTCAATAATCAGTAGACTACTGATTTCTCCTAGTCTACCCATGT ATAATTTCCCCAATGGAAGATAGAACTTTGCTTCAATTCTTGATTCTAAT GATTGGAAAACGTGTTTCTTTAGAAAATCATGAAATTTTACTAAAATGTT TATGTTGTTAGAAATATACTTGGACATCTTACAGTGATTTTTAGAGTAAA ATTTTGGAAGAACATAACTTATATAGAGATTCTTGCTGTCTAAGAAATCC AGTGCTCCTTGAAGCAGTATGACAAGTGTCTGTTCTACTATCATGAATGA AAGCTCATTAACTGGACTACTCAAGCTTTCTCTTATTTTTCATAACTCTT GCTAGTTAAAATAGTTTCTTCCAAATGCCAGTTCTAATGAAAAATGCCAA TTAGAAATGAGGAAGAGACTGTTCTAAACAAATCATTAGATGCTAGAAAG GAGTAACAACTTGAAACCTGACCCAGAGAGTAAAAAGAGAAAATAAATCA TCAACAGACCTAGACATTTTCAAAAGCAAAGCCATCTGAATCCATTTGGA GTTTTTTTTTTTTTTTTATCATGGCCTGACTATGTTTCAATTCACTGTGA CAGGGCTATTGTTATCACTGAGATTGATGATCAATATCAATAAGTAATCA GTGAAAGGTTTCACCTATTTAAGATGATTAGCACACATATATACATTTGA GAAATATTTCCTAAGAATGTAGGCTCCTTCCTCAGCGCTGTGTCCCCAGG ATCCTGATGAAGGGCTGACACAGGATAAGTGCTCAATTAATATATATTGA CTAAATGAATAAATAACCCTTCAAAATGGTTATTTTTCTTCTTCAAATGT TTTGCTACTTCATTAAAGTTGTAAAGTTTCTACTGTCCAGGAACTGTTAC TATCCGGAAGATTCAGGATAGACAAATCTCTTTTGTACTTTGCAATACAT TTTCATTGACATCTCATTTAATCCAACTCTTCAAAGTCCTAATGTCTACT GTCATCTCCTTAGCATATTTTCAGCAACACCAATCATAGCACCCTGTAAT TGCAGAATACCTCTGGTGAAACTCCTGAATGAAACTTAGAGCTTTTGTAT GTTTTCTAGAAATCTTTTGTCCAAGTCCTCCAGTTATTCCTAATGGGAGA CACACAGGAAAACCTCTGGAAGTCTTTCCCTTTGGAAAAGCAGTAAATTA CACATGCGACCCCCACCCAGACAGAGGGACGAGCTTCGACCTCATTGGAG AGAGCACCATCCGCTGCACAAGTGACCCTCAAGGGAATGGGGTTTGGAGC AGCCCTGCCCCTCGCTGTGGAATTCTGGGTTAGTGCTCATTTCCCCACAT CCCTAATGGGTTCAGAATATCTAACCCAGCCCCTCCATATTTCCATAATT ACAGTGTAGTATTTATTTGTATGTATGCATTTGCCACAATGGAATGCCAA ACCAATGATAGATGGTTCTAAGGTAGGTCAACACATAAGATCCTGATGAC CTTTGCAGATGGAGGGACTGATGAAAAAAGAGGGAGGCGGTGAGTGGTGG GAAAGTCCTTCATTAGAATCATATGAATTAAAAACAGATGCCTGTGAATC TCCTTATTGAAATGTTTGGTTTAGAAATCTGACCTAGAAAATCGGTGGCT CCTTCTGCCAGGAAACGTCTTGAGTTCCCGCCCATGCTTGACAGCCTCTC ATTGGAGTTTTGATGACTTGAAGTACAAGGAAACCAGACAGGAAAGGTGG AACCTGGGCAGAAAAACTCTTTCTGGCTTCCTAAAAATGTGAAAAATTAA ATGGGAGCTATCTTTACATTAAATTATATGAGCATTAGCTGAGCGTGGTG GCAATTGCCTGTGGTCCCAGCTACTCGAGAGGCTGAGATGGGAGTATCCC TTAAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCAC TCCAGCCTGGGTGACAGAGCGAGACCCTATCTCAAAAACAATAAAAATAG GCATTAGGAGGCCAAGGCTGGTGGATCACTAGAGGTCAGGAGTTCCAGAC CAGCCCGCAAACACAGTGAAACTCCAACTCTACTAAAAATAGAAAAAAAA TTTAAAAACAAAAATAAATTATATGAGTAGAAAGACCAGATAGCAGGCTA GTCTTCCAAATAATATACTTCCTTATAAGCCTATGCTAATGGAACTTTCC TTTCTATTTTACAGGGAAGTTTTTTTTTTTTCATAACTAAAATTTTCTTT TCTTCTGGCATCAAATCTACCAAGGAAGAGAAAAGAGGAAACACACTGGG TATCTTTTTATTAACTCAAATATTCTTGATTTCTTGGTCTCTAGGTCACT GTCAAGCCCCAGATCATTTTCTGTTTGCCAAGTTGAAAACCCAAACCAAT GCATCTGACTTTCCCATTGGGACATCTTTAAAGTACGAATGCCGTCCTGA GTACTACGGGAGGCCATTCTCTATCACATGTCTAGATAACCTGGTCTGGT CAAGTCCCAAAGATGTCTGTAAACGTGCGTAAACTTGCGTTGGATCTTTC CCATGTCTGCAAAAGCTTCTTATGGAATTATTTCAAATGTGGGATATGAG AAACCTTTTCTGAAAAGTGTTCGGATAGATGGATGTAAGAGTTTTTCTTG TAGGCATCCTTGATTGTTGCTTGAAATGTTAACTTCATGAGAATGTTTCA AGAAATAGTTGTAGAGAAAATCTTCATTCCCTATGGGAAAGAAAATAATA AATGACTAGATCAGGAAAAAAATGGTGTAGGAAGACAAATTCTGTTTGAA TAACTAGGTGGGAAGAAATCCTTTGCAAACTTTGAAATATATTGATAGTA AATAATGCCATAAATGACCTTTACATTTTGATAAGGGATGCAAGGTCTCT ACACAGATCTAAATCTAGATCTAGATAGATCTGGAGGGAAGGTCTTTTTG AAAGTGGGGCTTAGTAGGTGGCTGATCCTCAGCGCTCTGATGAGTTTTCT CAAGGTGCCAAAATCTGTGGAACCATCAGAGCCGCGTGTTTTCTTCAGGA AGCTACATGCAGGTTGAGACCTTACGTACTGAAGAGAGTTCAGATTACTC TACCTGGCTCCAAAACATTTTCTTTCCCACAGGTAAATCATGTAAAACTC CTCCAGATCCAGTGAATGGCATGGTGCATGTGATCACAGACATCCAGGTT GGATCCAGAATCAACTATTCTTGTACTACAGGGTGAGTTGGCAGCAACAT CTCTTGGTTTAAGAGTTCCAGCACAGCGATAGTACTTTCTAGCCACATCT CAGCAAGGAAACTAGGCTATTGCCACCTGCTCTTAAGAGGCTTGAACACA GGTGTTAACTCCTGATTGAAATGAACAAAGATAGGAGAAGATTAGGGGGA AAATCTGTATCCTTGCTGGAAACCAGGGCAGTGCACATATAAAGAGTATG CTGTTCACTGGATGGGAAAGAAAAAAACTTAGAAGTGTAGTAGTCAAAGC ACACAAACAACCCTAACCCAGAGTAGACATTGCTGGAAGAAAGGGAAGAC CATGTAGCAGCTGTGTGAGAGAATGAATCTTAATGATAACAGCATGATCC CTTGCTAGGGCTGCCATCAAAAAGTACAGGCCTTCCTCGTTTTATTGTAC TTCGCAGATGTTATGCTTTTTACAAATTGAACGCTTGTGGGAACGCTGTG TAAGCATGTTCGTCGGCATCATTTATCCAACAGCGTGTGTTGACTTCGTG TCTCTGTGTAGCATTTTGATTATTCTCACAGTATCCCAGATGTTTTCATT ATTATCATGTCTGTGATAGTGATCTGTCATCAGTGATCTTTGATGTTACT ATTGTCATTGTTTGGGGTCCCTACGAACTGCACCCATATAAGACAGAAAA CTTAATCAATAAATGTGCGTGCTTTGACTGCTCCATGGACTAGACATTCC CCTTCTGTCTCCCTCTCTTCAGGACTCCCTAATCCCTGAGACACAATAAT ACTAAAATGACTCCAATTAATAACCCTACAATAGCCTTTAAGTGTTGACA TGAAGGGAAGAGTCATGCATCTCTTACTTTAAATCAAAAGCTAGAGATGA TTAAGCTTACTGAGGAAGATACGTTGAAAACCAAGATAGGCCAAAAGCCA TTCCTCATGTGCCAAACAGCTAGAAAGTTGTAAAGGCAAAGTAAAAATAC TTGAAGGAAATTTAAAATGCTCTTCCAGTGAACACATGTATGATAAGAAG GTAAAACAGCCTTATTGCTGATATGGAAGAAGTTTTAGTGGTCTAGACAT AAGATCAAACTAGAAACATTTCCTGAAGCCAAAGCGTAATCCTGAGCAAG GCCGTAACTCTCTTCAATTCTGTGAAGGCTGACAGAAGCTGGAAGCTAGC AGAATTTGGTTCCTGAGGTTTAAGGAAAGAAGCCCTCTCCATAACATAAA GGTCCAAGGTGAAGCAGCCAGTGCTCATATAGAAGTTGCAGCAAGTTATC TAGAAAATCTAGCTAAGATCACTGACGAAGGTGTTACACTAAATAACAGA TTTTCCATGTAGACAAAACAGCCATCTATTGGACTTTCATAGCTAGAGAG GAGAAGCCAATACCTGGGTTCAAAGCTTCAAAGAACAGGCTGACTTTTTA GGAGCTAATGCCGCTGGTGACTTTGAGTTGAAGCCAATGTTCACCGACCA TTCTAAAAATCCTAGGGCCCTTAAGCATTAAGTTAAATATACCTTGCCTG TGTCTATAAATGGAAGAACAAAGCCTGATGACAGAGGTATGTTTGCGGCA TAGTTTACTGAATATTTTAAGCCCACTGTTGAGATCTAGTGCTCAGAAAA ACAGATTCCTTTCAAAATATTACTGCTCATTGACATTGCACCTAAGCAGC CAAGAGCTCTAATGGAGAAGGACATGGAGATGAATGGAGTTTTCCTGCCT GCTAACAACAGCAGCCATTCTGCAGCCCATGGCTGAAGGAGTAATTTTGA CTTTCAAGTTTCACTATTTAAGAAATACATTTTGTAAGGTGAGTCCCCAC AGACAGTAATTCCTCTGATGGATCTGAACAAAATAAGTTGAAAACTGCTG GAAAGAATTCATCATTCTACATACCATTAAGAACATTCGTGATTCATGGG AAGAGCTTAAAATATCAACATTAATAGGAGTTTGGTAGAAGTTAATTCCA ACCCTCATGGCTGACTTTGAGAGGTTCAAGACTTCAGCGGAGGAAATAAC TGAAGATGTGGTGAAAATCGCAAGAGAACTACAATTAGAAGTGGAGCCTG AAGACGTGACTGAATTGCGACAAATTCATGATCAAACTTGAACAGATGAG GAGTTGCTTCTCATGAATCAGCAGAGAAAGTGGTTTTTTTGAGGTGGAGT GTCTTCCTGGTGATGATGACATGAGCATTGTGAAAATGACCACAAAGGAT ACAGAATATTACAAAAACTTAGGTGATAAAGCAGCAGCAGTATCGGGAGG ATTAACTCCAATTTTGAAAGCAGTTCAGAGGGTAAAATGTTATCAAACAG CATTGCATGCTAGAAAAATCTTTTGTGAAAGGAAGAGTCCATCAATACAG CAATTTTATTGCTGTCTCAGCTTAAGAAATTGCCACAGCCACCCCG	A A	exon_loss_variant exon_loss_variant	HIGH	HG02258.hp2 HG02622.hp2 HG02965.hp2 others(4): Show HG02258.hp2 HG02622.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03516.hp2 NA18906.hp2	a0013 a0025 a0013 a0025	a0013c0012 a0025c0025 a0013c0012 a0025c0025	a0013c0012t0001 a0013c0012t0019 a0025c0025t0001 a0013c0012t0001 a0013c0012t0019 a0025c0025t0001	a0013c0012t0001g0015 a0013c0012t0001g0019 a0013c0012t0001g0021 others(4): Show a0013c0012t0001g0015 a0013c0012t0001g0019 a0013c0012t0001g0021 a0013c0012t0001g0028 a0013c0012t0019g0024 a0025c0025t0001g0017 a0025c0025t0001g0018	7	360	0.0194	-17095	c.310 others(19): Show c.3101+2526_4451+2525del		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	20/47				INFO_REALIGN_3_PRIME	chr1	TogoVar
CT45A9_chrX_135858418_135876812	135865906	G G	GAA GAA	frameshift_variant frameshift_variant	HIGH	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0001 a0005c0004t0003g0001	1	13	0.0769	2	c.235 others(9): Show c.235_236dupTT	p.Lys others(4): Show p.Lys81fs	CT45A9	ENSG00000270946.6	transcript	ENST00000620704.5	protein_coding	3/5	481/1368	236/570	79/189		chrX	TogoVar
CYLC2_chr9_102990333_103023488	103016962	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0005 a0002c0002 others(12): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0007c0008 a0008c0010 a0009c0011 a0010c0012 a0011c0013 a0012c0014 a0013c0015 a0014c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0005t0042 a0002c0002t0010 a0002c0002t0015 a0002c0002t0017 a0002c0002t0022 a0002c0002t0031 a0003c0003t0034 a0003c0003t0045 a0003c0003t0046 a0004c0004t0009 a0005c0006t0041 a0006c0007t0061 a0006c0007t0062 a0007c0008t0012 a0007c0008t0023 a0008c0010t0012 a0009c0011t0023 a0010c0012t0060 a0011c0013t0001 a0012c0014t0033 a0013c0015t0001 a0014c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(317): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0082 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0213 a0001c0001t0003g0219 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0235 a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0004g0019 a0001c0001t0004g0024 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0059 a0001c0001t0004g0116 a0001c0001t0004g0167 a0001c0001t0004g0206 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0236 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0005g0011 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0037 a0001c0001t0005g0054 a0001c0001t0005g0171 a0001c0001t0005g0210 a0001c0001t0005g0215 a0001c0001t0005g0229 a0001c0001t0005g0238 a0001c0001t0006g0002 a0001c0001t0006g0013 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0018 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0139 a0001c0001t0006g0148 a0001c0001t0006g0157 a0001c0001t0006g0162 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0192 a0001c0001t0007g0002 a0001c0001t0007g0008 a0001c0001t0007g0015 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0040 a0001c0001t0007g0043 a0001c0001t0007g0071 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0103 a0001c0001t0007g0120 a0001c0001t0007g0158 a0001c0001t0007g0204 a0001c0001t0007g0209 a0001c0001t0008g0001 a0001c0001t0008g0023 a0001c0001t0008g0038 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0214 a0001c0001t0008g0223 a0001c0001t0008g0228 a0001c0001t0008g0232 a0001c0001t0008g0239 a0001c0001t0008g0240 a0001c0001t0009g0001 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0055 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0207 a0001c0001t0009g0216 a0001c0001t0009g0222 a0001c0001t0011g0007 a0001c0001t0011g0075 a0001c0001t0011g0180 a0001c0001t0011g0198 a0001c0001t0011g0199 a0001c0001t0011g0233 a0001c0001t0011g0234 a0001c0001t0012g0001 a0001c0001t0012g0019 a0001c0001t0012g0023 a0001c0001t0012g0036 a0001c0001t0012g0051 a0001c0001t0012g0053 a0001c0001t0013g0009 a0001c0001t0013g0087 a0001c0001t0013g0088 a0001c0001t0013g0090 a0001c0001t0013g0092 a0001c0001t0013g0093 a0001c0001t0013g0095 a0001c0001t0014g0046 a0001c0001t0014g0074 a0001c0001t0014g0080 a0001c0001t0014g0176 a0001c0001t0014g0179 a0001c0001t0014g0185 a0001c0001t0014g0189 a0001c0001t0014g0237 a0001c0001t0016g0002 a0001c0001t0016g0004 a0001c0001t0016g0008 a0001c0001t0016g0030 a0001c0001t0016g0172 a0001c0001t0016g0184 a0001c0001t0016g0191 a0001c0001t0019g0081 a0001c0001t0020g0004 a0001c0001t0020g0045 a0001c0001t0020g0047 a0001c0001t0020g0048 a0001c0001t0020g0174 a0001c0001t0020g0182 a0001c0001t0023g0220 a0001c0001t0023g0221 a0001c0001t0023g0230 a0001c0001t0024g0023 a0001c0001t0024g0054 a0001c0001t0024g0076 a0001c0001t0024g0208 a0001c0001t0024g0211 a0001c0001t0025g0006 a0001c0001t0025g0135 a0001c0001t0025g0137 a0001c0001t0025g0145 a0001c0001t0025g0151 a0001c0001t0026g0193 a0001c0001t0028g0005 a0001c0001t0028g0084 a0001c0001t0028g0089 a0001c0001t0028g0094 a0001c0001t0029g0005 a0001c0001t0029g0091 a0001c0001t0030g0006 a0001c0001t0030g0013 a0001c0001t0030g0150 a0001c0001t0030g0169 a0001c0001t0033g0060 a0001c0001t0035g0098 a0001c0001t0035g0099 a0001c0001t0037g0085 a0001c0001t0037g0096 a0001c0001t0038g0005 a0001c0001t0038g0009 a0001c0001t0043g0248 a0001c0001t0043g0250 a0001c0001t0044g0003 a0001c0001t0047g0241 a0001c0001t0048g0056 a0001c0001t0049g0056 a0001c0001t0050g0001 a0001c0001t0051g0212 a0001c0001t0052g0097 a0001c0001t0053g0086 a0001c0001t0054g0072 a0001c0001t0056g0049 a0001c0001t0057g0166 a0001c0001t0058g0058 a0001c0001t0059g0058 a0001c0001t0063g0246 a0001c0001t0064g0083 a0001c0001t0065g0251 a0001c0001t0066g0249 a0001c0001t0067g0247 a0001c0005t0042g0194 a0001c0005t0042g0195 a0002c0002t0010g0064 a0002c0002t0010g0065 a0002c0002t0010g0066 a0002c0002t0010g0276 a0002c0002t0010g0278 a0002c0002t0010g0280 a0002c0002t0010g0281 a0002c0002t0010g0290 a0002c0002t0010g0292 a0002c0002t0010g0293 a0002c0002t0010g0294 a0002c0002t0015g0027 a0002c0002t0015g0277 a0002c0002t0015g0285 a0002c0002t0015g0286 a0002c0002t0015g0287 a0002c0002t0015g0289 a0002c0002t0015g0296 a0002c0002t0017g0033 a0002c0002t0017g0034 a0002c0002t0017g0035 a0002c0002t0017g0114 a0002c0002t0022g0065 a0002c0002t0022g0282 a0002c0002t0022g0283 a0002c0002t0022g0284 a0002c0002t0022g0295 a0002c0002t0031g0027 a0002c0002t0031g0288 a0002c0002t0031g0291 a0003c0003t0034g0202 a0003c0003t0034g0203 a0003c0003t0045g0200 a0003c0003t0046g0201 a0004c0004t0009g0063 a0004c0004t0009g0279 a0005c0006t0041g0031 a0006c0007t0061g0197 a0006c0007t0062g0196 a0007c0008t0012g0001 a0007c0008t0023g0224 a0008c0010t0012g0001 a0009c0011t0023g0205 a0010c0012t0060g0243 a0011c0013t0001g0002 a0012c0014t0033g0245 a0013c0015t0001g0102 a0014c0009t0001g0124	412	448	0.9196	0	c.89 others(6): Show c.890+1G>A		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	7/7					chr9	TogoVar
CYP2D6_chr22_42121499_42135810	42128945	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00323.hp1 HG00733.hp1 others(22): Show HG00140.hp2 HG00323.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01952.hp2 HG02647.hp1 HG02698.hp1 HG02886.hp2 HG02965.hp2 HG03490.hp2 HG03834.hp1 HG06807.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0003 a0005 a0008 a0003 a0005 a0008	a0003c0003 a0005c0005 a0008c0009 a0003c0003 a0005c0005 a0008c0009	a0003c0003t0001 a0005c0005t0001 a0008c0009t0001 a0003c0003t0001 a0005c0005t0001 a0008c0009t0001	a0003c0003t0001g0015 a0005c0005t0001g0004 a0005c0005t0001g0076 others(1): Show a0003c0003t0001g0015 a0005c0005t0001g0004 a0005c0005t0001g0076 a0008c0009t0001g0013	25	417	0.0600	0	c.506 others(5): Show c.506-1G>A		CYP2D6	ENSG00000100197.23	transcript	ENST00000645361.2	protein_coding	3/8					chr22	TogoVar
CYP2F1_chr19_41109432_41133381	41116202	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG02027.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18961.hp1 NA18962.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18995.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0002c0003 a0002c0005 others(11): Show a0002c0002 a0002c0003 a0002c0005 a0002c0010 a0002c0017 a0002c0018 a0002c0019 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0032 a0002c0033 a0013c0034	a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 others(17): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0002t0017 a0002c0003t0003 a0002c0005t0002 a0002c0005t0006 a0002c0005t0010 a0002c0005t0014 a0002c0010t0003 a0002c0017t0002 a0002c0018t0003 a0002c0019t0002 a0002c0028t0003 a0002c0029t0003 a0002c0030t0002 a0002c0031t0002 a0002c0032t0002 a0002c0033t0002 a0013c0034t0002	a0002c0002t0001g0063 a0002c0002t0002g0002 a0002c0002t0002g0003 others(101): Show a0002c0002t0001g0063 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0052 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0127 a0002c0002t0011g0009 a0002c0002t0017g0123 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0003g0093 a0002c0003t0003g0094 a0002c0003t0003g0095 a0002c0003t0003g0096 a0002c0003t0003g0097 a0002c0003t0003g0116 a0002c0003t0003g0117 a0002c0003t0003g0118 a0002c0003t0003g0125 a0002c0003t0003g0128 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0135 a0002c0003t0003g0136 a0002c0003t0003g0138 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0151 a0002c0003t0003g0152 a0002c0005t0002g0006 a0002c0005t0002g0007 a0002c0005t0002g0025 a0002c0005t0002g0026 a0002c0005t0002g0031 a0002c0005t0002g0032 a0002c0005t0002g0033 a0002c0005t0006g0110 a0002c0005t0006g0111 a0002c0005t0006g0112 a0002c0005t0006g0113 a0002c0005t0006g0119 a0002c0005t0006g0120 a0002c0005t0006g0148 a0002c0005t0006g0149 a0002c0005t0010g0007 a0002c0005t0010g0037 a0002c0005t0010g0039 a0002c0005t0014g0035 a0002c0010t0003g0129 a0002c0010t0003g0137 a0002c0010t0003g0139 a0002c0010t0003g0142 a0002c0010t0003g0156 a0002c0017t0002g0053 a0002c0017t0002g0068 a0002c0018t0003g0109 a0002c0018t0003g0122 a0002c0019t0002g0036 a0002c0019t0002g0038 a0002c0028t0003g0115 a0002c0029t0003g0114 a0002c0030t0002g0077 a0002c0031t0002g0034 a0002c0032t0002g0070 a0002c0033t0002g0054 a0013c0034t0002g0091	114	374	0.3048	1	c.15d others(3): Show c.15dupC	p.Thr others(3): Show p.Thr6fs	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	2/10	88/1847	16/1476	6/491	INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP3A43_chr7_99823013_99871093	99863766	AAAAATTA others(2166): Show AAAAATTATTGTTCATTTTTCAATAATTTGCTCTGTAGGACAAAGAATCT AATTGGAGCTATCCATAATGCTTAAAGATGAATCACTTCTGGAGTTCAAA ATCTGTGGCTTTGTAAAGACAGAACTATAAAGATCATCTAATGTCAATAT AGATTAGCATGGTATAATTATGTTCAGTCTCTGTGAACTTGAGCAAATTT TAAATTCAGTTTCATGTCAACTGTAAAGATGAGGAAGTCTTTTGCACAAT CATGAAGTGCAATGATTACTTTGTCAGGACTTTCGAATGGTGCTCTCCTC CACTAGAACTCACTAGAACTTGCAGAAGCTTTCTCATGACAGTGTTTCTC AACCACTAGCTGTACATTGGAATCACTGGGGAGCTTCAAAAATTCATGAT GCCTGGATCATCTCACAAATTCTAAACTAATTTGCCCAGAGTTGTGGCTT TAAAAGCTCTCCCATTGGTCCTCATGTGAAGCCAATGTTGGGAATCACTA ATTTAAGGCATTTCTGCCAGATAGAAAAGATACTTACAGTCCAAGGCCAT CCTGACCATTTGACCTTATCTTCCAGGAGCACTGCTTCGCTGCTTCATAC AAGCTGTGCATCTTTTCAACCCAATAATAGCTCTATGAATGTTCTTCTTT TCCTTCTCATTATGTTCCTATCCCACAAGTCCTACATCAATTCCCCAAGC CACTCTAAGAAACCTTCCCCATCGAGTACAGGGCCAGTTATTCTTCTGCT TTGTTACTGTTTATTGCAGGCTGTTATCATCACCTAATCTTATACTTTTC ATTAAACCACTCAGTTTTATTCTACAAGTCTTTTCTCTATTCTAAGAATT TCTCCTCTCTGCCCCATTTATGTTGTTTTGTTTTAATTCTTTCATAAAAG TCCAATAGTGTCTTGCAGAGGACATTATCCATTGCAGGCATTCCACACAT GTTTAAGGAGTGAGTTTCAGTTGATTTGGAGTTCTTGGATACAAGTTTTA AGCTGTTTAATTTTTAAATTTAATATGTGACATTTGTATATTTGAGTGTG TATGTCTGTCTGCAGGAAAAACATTCATGCCATTTGAAATTTTAAAATAA TGAGTCACATTAATAGAAAGATATGGAATCTTTCTCTGAAGAACTTAATG AACACTTGTCATTTATTTATATCAAGCAAGGCCCTATAAGCCTTATTTCT AGGACTTGTGCATTTACTATGCAACTCCTATTCTAAAGTAGGCTTTGTGC ATGGGAAGGAAGAATAGATAGGGTTTCAATCTTATTTGTGGCTTTAGGGA AGCTGTACATCCATCCTCTAAGTGTGTACAGACAGGGGCTCAACTCTGAA TAAAAGCAGGTCTCTGGCACACATGGGATGGGGTGATACTCCCTGGCAAT TTCCCAAGCATCTACTAGCTGGCACTTTTCAATTTCCATGACAATTTGCC TGCCCTTCACTTAACTGACATCAGAACATTTCTCTGCTGGCTGCTCCCCT GACACTGAAGTGACTTGGGAGAATGAGGGCTCAAAGTATTAGTCAAAACA CTATAGGCCTTGAGAAGCTTCCCATTTGCATTTCCTTTGGAAATCAAGAG AAGAAGTAAAAAACAAAAGCATAATGCTTCTTGAAGATCTCTTCCCATCA TTACACTGGATAGGTTCAGTTGGATGGAGTTAGTGAATGCTTAATAAGTT GAAGACTGTCCATATAATTGAAATATATAACACCTACTGAGGATTACCTT GCAAGTTTCATCATATACAAAATTAACTTTATATGGCTTTTCCAAAATAG TTTAACATAATGCCTAATAATCTGGATTTGATTTTTTAAAATATCTCTTT GCTTAAAATTTAAATAAAAAGGAACAGAAGCCAGCATGAACAATCTCAAG CCTGGCACAGAATAGATACTCAATAAATATTTTGTTAAATGATGAATGGT AAATGCTTTCACTATCCAATCTTCACAGAGCTAACTGAACAAGTACAAAT AAACCAACATGTATGGTGCTGAAAGTAGTTTTTTTTTAGTCATTGCAAAG CATTACCCTTGATGTCATCTTTTTTATTTTGCTTCTATCTTTTCTTCATT TGCTTCATTGTTTCTGAATATTCTTGTTTAACTTTTGCAGATCCCACTGA AATTAGACAATCTACCAATTCTTC	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0010 a0002c0011 a0002c0014 others(3): Show a0002c0010 a0002c0011 a0002c0014 a0003c0004 a0003c0005 a0007c0017	a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 others(3): Show a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 a0003c0004t0001 a0003c0005t0001 a0007c0017t0001	a0002c0010t0001g0035 a0002c0010t0001g0180 a0002c0011t0001g0036 others(13): Show a0002c0010t0001g0035 a0002c0010t0001g0180 a0002c0011t0001g0036 a0002c0011t0001g0181 a0002c0014t0001g0182 a0002c0014t0001g0192 a0003c0004t0001g0011 a0003c0004t0001g0012 a0003c0004t0001g0184 a0003c0004t0001g0207 a0003c0004t0001g0208 a0003c0004t0001g0209 a0003c0004t0001g0210 a0003c0005t0001g0005 a0003c0005t0001g0226 a0007c0017t0001g0216	28	326	0.0859	-2173	c.141 others(12): Show c.1416+70_1452del	p.Ile others(13): Show p.Ile473_Pro485del	CYP3A43	ENSG00000021461.18	transcript	ENST00000354829.7	protein_coding	13/13		1417/1512	473/503	INFO_REALIGN_3_PRIME	chr7	TogoVar
CYP3A5_chr7_99643194_99684996	99652770	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG02055.hp2 HG02257.hp1 HG02486.hp1 others(11): Show HG02055.hp2 HG02257.hp1 HG02486.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02965.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 NA18522.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0014 a0002c0003t0001g0046 others(3): Show a0002c0003t0001g0002 a0002c0003t0001g0014 a0002c0003t0001g0046 a0002c0003t0001g0058 a0002c0003t0001g0193 a0002c0003t0001g0195	14	292	0.0480	1	c.103 others(5): Show c.1035dupT	p.Thr others(5): Show p.Thr346fs	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	11/13	1135/1720	1035/1509	345/502		chr7	TogoVar
DAZ2_chrY_23214533_23296356	23249555	CTTTTTTT others(7149): Show CTTTTTTTTTTTTTTTTTTTTAAAGATGCCACCTTAGGGGCCTGTTGGGG AGCAAAGGGATTATGTTGTCCTTGACGTTAAGGGAATTAGCCAAACATAG ACTTCCTGTTCATTCTTGATTTTTTTCCATGTCCTATATGCCTATAAATA TTTTTAAGTGATTCTTTATATTAATTTTTTTGTCGTTGTTACTTTCTTGT TAACCCGATTATGAACTCCCATGGGAGCAAGAGTGCCTTTTTTGCCCTCA GGTTTTTATGTGCCTAAGCAATGGCAGGTCCACATAATGATAGACTATAT AATCACAGAAAAGTAGTATTCACTTGACTTTAGAATTATCACGTATCTGC CAATAATCTGCCTCTGGCTTTACCAGCAATAGAAAATTTATAGAAGAGAA ACAGAATTGCTTTGCTGTTAATGACGCTTAAATAAGAACAGGAGTGAACG AGAGTATTACCTCCAAATCACCGGAGCTGCTTTCCCCCTTATAAGCAGTT CCTAAAGTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATTCT TCGGTAAGTTTAGCAGTTCATCTAGCTATCCTTTATTTGAAATGATTTCC AGATGCCTCCTCATATAAATTGCTGACTTCTGGATATTTCCTGGTTCTGG AATGGGTAGATTTCTGATGTGGTTTAGTATATATATGTAAACCCCGTGAG CTTCTGGCATCTAATTTCTCTGATCCTGGTTACATTGATATTTAAAGTAG GGTTTGACATACTCTGTCACCTACTGTTGATAAATAACGTTTATATTCTT CTTAGTTCATTTTATTGACGTGTTAGCTTTAAAGACATTTTCTTTGACGG AAAATGAAGTAACAAAATAATAGTGAAATAGTTATGCAGTGTCTCTAATT TGTTGATATTTTCCATGTACTTGAAACTTGTATGGTATACCTCTTCTTTT TCCTTCTCTGAACAATGGCTAGAAAAAAAGTCCTACTTTTTTCTGTCATT TACTGTGAGGCATCACTGATTCTGGGTGTATTCATGTATGCTGCTACCTG TATGTTTTCAAACAATAAGAATTTATTGAAACATGTAAGACATTATACTT TCTCTTCTCCAGTATTGGATCATAGACTGCACTTAGTTTTTCGTAATGAA GTACAGACAAAGCCATAACATCTGTCGAACTACATATTACCCTATAATAT TGTCTGATACAAAACAGTCTAGAAATATTCTTACAGAGAAATTGCAAATG TATTAATTTAACTTACCTTGCAATCTCTCTTAATGGAGCCTTACCACCAG TGTAAGAAATAACGTCTGGGTGTGAATAAGTACACAGTATAAGGTAAACT TTGGTGAAGTAGTCAATTCTTTTGTCATTTGTTCCCCCTTCACACCCATA GTGTAGCACTTGACCTAGAATCTTTCTTTCTTCATAAAGTCAGTCATTCA TTTGGAATTCTGCATTGTTGTACGTAGAAAAAGGATATTTTACCTTTTGT AATATTTTTGTTATATTGGGAATTATATTTCTTTGTAATTTTAAAAAGTG GTTTACCATATTCATTTTTTTCTGCAACCTTTCTTTTCAGCCATTTCCTG CTTATCCAAGATCACCATTTCAGGTCACTGCTGGATATCAGTTGCCTGTA TATAATTATCAGGTAATGTAAGAAGGAGTAAAATGATTTACTTTCAGGTA TTACTGAGGCATTCAACTTGTTTATACAAATTTCCTGAATAGTTGGTCAT TTTAAATTAGTGAAGTGTACCTAAAATTTAAGGAAACACGTAGAAGTAGT GTAGAATGAAGACCTCTGTCTTATTTAGAAGTAATGAAGTAGTATTTTGA GAGGAATATACTTGGCAATAACTTTTCTGTAGAAGAGATTTCTGAGATGT GGTGTTCTCTTCTTTATTTCTGGATGCAGTTTTCATCTTTACTGTGAAAT AGCTGAATGAAACATCCAAACTGACTTTCATGAATTTTCTTAGGGAGATA GAGTGAAATAAATTTATGCTGCACTTTTCAGAGCACAGAATCCCAATTAC ATTTTCATTTTAGCTGGCTGTTTGAAGATAGTAATGCTCTGGATCTCTTT TCATAGATACAAGTATATCTATGACCCATAATTACATCTATGGTAAGAAA CTGAAAGAGGTAGTATCTTTGAGGTTTCCACCTTGCCAACTCCCGAAAAT TTGGAGAAAGGTGAAGTTTCCAATATAAAAGTAACAAGAATGTCATGGAC TAGAAACATAAAGTACTTAAGTTTTCCTTTCTGTTACTTTTATTATAATG AAAAAGGAGACAGCCGGATAAGTACTTCAATGTTGTATTTCTCATGTGTT TTTGAAAATGTGTAGGAATACATATAATAGTTTCGGTGTCCTTTTTTTTT CTTTCTTTTTCTTTCTTTTTTTTTTTTAAGATGCCACCATAAGGTCCTGT TGGGGAGCAAAGGATTATGTTGTCCTTGACGTTAAGTGAATTAGCCAAAC ATAGATTTCCTGTTCATTCTTGATTTTTTTCCATGTCATATATGCCTATA AATATTTTTAAGTGATTCTTTATATTAATTTTTTTGTTGTTGTTACTTTC TTGTTAACCCGATTATAAACTCCCATGGGAGCAAGAGTGCCTTTTTTGCC CTCAGGTTTTTATGTGGTTAAGCAATGGCAGGTCCATATAATGACAGACT ATATAATCAAAGAAAGGTAGTGTTCATGTGACTTTACAATTAGCATGTAT CTGCATAGAATCTGCCTCTGGCTTTACCAGCAATAGAATATTTATAGAAG AGAAACAGAAATGCTTTGCTGTTAATGACGCTTAAATGAGAATAGGAGTA AACGAGAGTATTACCGCCAAATCACCGGAGCTGCTTTCCCCCTTATAACC AGTTCCTAAAGTGAATGAAAGCAGCTCCCCTTATGTGTCTGCCTACTTTA TTCTTTGGTAAGTTTAGCAGTTCATCTAGCTATTCTTTATTTGAAATGAT TTCCGGATGCCTCCTCATATAAATTGCTGACTTCTGGAAATATTCTTCTT CTGGAATGGGTAGATTTCTGATGTGGTTTAGTATATATATAAACCCCGTG AGCTTCTGGCGTCTAATTTCTCTGATTCTGGTTACACTGATATTTAAAGT AGGGTTTGACATACTCCATCACTTAATGTTGATAACTAACCTTTATATTC TTCTTAGTTCGTTTTATTTATGTGTTAGCTTAAAAGACATTTTCTTTGAT GGAAAATGAAGTAACAAAATAATAGTGAAATAGTTCTGCGGTTGTCTCTA ATTTCGTGATATTTTCCATGTACTTGAAACATGTATGGTATACCTCTTCT TTTTCCTTCTCTGAACAATGGCTAGAAAAAAAGCCTTACTTGTTTCTGTC ATTTACTGTGAGCGATTACTGAATCTGGGTGTATTCATGTATGCTGCTAC CTGTATGTTTTCAGATAATAAAAATTTTTTGAAACATATAAGACATTATA CTTTCTCTTGTCCAGTATTGGATTATAGACTGCACTTAGTTTTTCGTAAT GAAGTACAGACAAAGCCATAACATCTGTCAAACTATATATTGTCCTATAA TATTGTCTGATACAAAACAGTCTAGAAATATTCTGACAGGGAAATAGCAA ATGTATTAATTTAACTTACCTTGCAATCTCTCTTAATGGAGCCTTACCAC CAGTGTAAGAAATAACTTCTGGGTGTGAATAAGTACACAGTATAAGGTAA ACTTTGGTGAAATAGTCAATTCTTTTGTCATTAGTTCCCCCTTCACTCCC AAAGTGTAGCACTTGTCATAGAATCTTTCTTTCTTCATAAAGTCAGTCAT TCATTTAGAATTCTGCATTATTGTATGTAGAAAAACAATATTTTACCTAT TTTTGTTATATTCAGAATTATATTTCTTTCTAATTTTAAAAAAATGGTTT ACCGTATTCATTTTTTTCTGGAACCTTTCTTTTCAGGCATTTCCTGCTTA TCCAAATTCACCATTTCAAGTCGCCACTGGATATCAGTTCCCTGTATACA ATTATCAGGTAATGTCAGAGGGAGTAAAATGATTTGCTTTTAGGTATTAT TGAGGCCTTTAACTTGTTCATACAAATTTCCTGAATAGTTGCTCATTTTA AACTAGTGAATTGTACCTAAAATTTAAGGAAACACTTAGTGTAGAATGAA GACCTCTGTGTTATTTAGAATAATGAGGTAGTATTTTGACAGGAATATAC TTGGCAATAACTTTTCTGTAGAACAGATTTCTGAGATTTGGTGTTCTCTT CTTCATTTCTGGATGTAGTTTTCATCTTTACTGTCAAATAGCTAAATGAA ACGTCCAAAGTGTCTTTCATGAATTTTCTTAGGGAGATAGACTGAAATAA AATTATGCTGCACTTTTCAGAGCACAGAATCCCAATTACATTTTCATTTT AGCTGGCTGTTTGACGATAGTAATGCTCTGGATCTCTTTTCATAGATACA AGTGTATCTGTGACCCATAATTATATCTACGGTAATAAACTGAAAGAGCT AGTATCTTTGAGGTTTCCACATTGCGAAATCCCGAAAATGTGGAGAGAGC TGAAGTTTCCAATGTAAAAGTAACAAGAATGTCATGGACTAGAAACATAA AGTATTTGAGTTTTCCTTTCTGTTACTTTTATTACAATAAAAAAGGAGAC AGCAGGATAAGTACTTTAATATTGTGTTTCTCATGTGTTTTTGAAAATGT GTAGTAATACTTCAATAGTTTTGGTTTCCTTTTATTTATTAATTGATTTT TTAAGATTCCACCTTAGGGGCCTGTTGGGTAGCAAAGGGATTATGTTGTC CTTGACATTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATTCTTGAT TTTTTTCCATGTCATATATGCCTACAAATATTTTTAAGTGACTTTTTATG TTAATGTTTTTTTTGTTGTTGTTTCCTTCTTGTTAACCCGATTATAAACT CCCATGGCAGCAACAGTGCCTTTTTTGTCCTCAGGTTTTTATGTGCTTAA GCAATGGCAGGTCTACATAATGATAGACTATATAATCAAAGAAAGGGAGT ATTCACGTGACTTTAGAATTAGCATGTGTCTGCACAGAATATGCCTCTGG CTTTACCAGCAGTAGAAAATTTATAGAAGAGAAACAGAAATGCTTTGCTG TTAATGACGCCTAAATAAGAATAGGAGTAAAGGAGAGTATTACCTCCAAC TCACCGGAGCTGCTTTCCCCCTTATAAGCAGTTCCTAAAGTGAATGAAAG CAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCGGTAAGTTTAGCAGT TTATCTAGCTATCCTTTATTTGAAATGATTGCCACATGCCTCCTCATATA AATGGCTGACTTCTGGATATATTCTGGTTCTGGAATGGGCAGATTTCTGA CGTGGTTTAGTATATATATATAAACCCGGTGAGTTTCTGGCATGTAATTT CTCTGATCGTGGTTACATTGATATTTAAAGTAGGGTTTGACATAGTGTGT CACTTACTGTTGATAAATATCGTTTATTTTCTTCTTAGTTCATTTCATTG ATGTGTTAGCTTAAAAGACATTTTCTTTGACAGAAAATGAAGTAATGAAA TAATAGTGAAATCGTTCTGCTGTGTCTCTAATTTGTTGATATTTTCCATG TACTTGAAACATGTATGGTATACCTCTTCTTTTTCCTTCTCTGAACCATG GCTAGAAAAAAAGCCCTACTTGTTTCTCTCGTTTACTGTGAGGCATTAGT GATTCTGGGTGTATTCATGTATGCTGCTAACTGTATGTTTTCAAACAATA AGAATTTGTTGAAACATGTCAGACATTATACTTTTTATTCTCCAGTATTG GAATATAGACTGCAATTAGTTTTTTGGAATGAAATACAGACAAAGCCATA ACATCTATAGAACTACATATTACCCTACAATATTGTCTGATACAAAACAG TCTGGAAATATTCTTACAGCGAAATTGCAAATGTATTGATTTACCTTACA TTGCAATCTGTCTTAGTGGAACCTTATCACCAGTGTAAGACATAATTTCT GGGTGTGAATAAGTACACAGTATAAGGTAAATTTTGGTGAAGTAGTCAGT TCTTTGTCATTTGTTCCCCCTTCACACCCAAAGTGTAGCACTTGACATAG AATCTTTCTTTCCTCATAAAGTCATTCATTTGGAATTCTGCATTGTTGTA TGTAGAAAAAGGATATTTTCCGTTTTGTAATATTTTTCTTATATTGGGAA TTATATTTCTTTCTAATTTTAAAATGTGGTTTACCATATTCATTTTTTCT GCAACCTTTTCAGGCATTTCCTGCTTATCCAAATTCACCAGTTCAGGTCA CCACTGGATATCAGTTGCCTGTATACAATTATCAGGTAATGTAAGAGGTA GTAAAATGGTTTGCTTTCAGGTATTATTGAGGCCTTTAACTTGTTTATAG AAATTTCCTGAATAGTTGGTCATTTTTAACTAGTGAAGTGTCCCTAAAAT TTAAGGAAAGACTTAGTGTAGAATGAAGACCTCTGTCTTATTTAGAAGTA ATGAAGTAATATTTTTACAGGAATATCCTTGGCAATAACATTTGTGTAGA AGAGATTTCTGAGATTTGGTGTCCCCTTCTTCATTTGTGGATATAGTTTT CATCTTTGCTGTCAAATAGCTGAATGAAACATCCAAACTGACTTTCATGA ATTTTTTTAGGGAGATAGAGTGAAATAAAATTATGATCCACTTTTCAGAG CACAGAATTCCAATTATATTTTCATTTTAGCTGGCTGTTTGACGGTAGTC ATTCTCAGGATCTCTTCTCATAGATACAAGTATATCTATGACCCATAACT ATATCTATGGTAATAAACTGAAAGAGCTAGTATTTTTGAGGTTTCCACAT TGCCAACTCCCAAAAATTTGGAGAAAGGTGAAGATTCAAATTTAAAGTAA CAAGAATGTCATGGACAAGAAACATAAAGTACTTAAGTTTTCCTTTCTGT TACTTTTATTATAATAAAAAAGGAGACAGCGGAATAAGTACTTCAATACT GTGTTTCTCATGTGTGTTTGAAAATATGTAGGAATAGTTTAATAGTTTTG GTTTCCT	C C	exon_loss_variant exon_loss_variant	HIGH	HG02055.hp1 HG02965.hp1 HG03130.hp1 others(2): Show HG02055.hp1 HG02965.hp1 HG03130.hp1 HG03209.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0038 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0038	5	54	0.0926	-7156	c.114 others(17): Show c.1146+741_1362+741del		DAZ2	ENSG00000205944.12	transcript	ENST00000382440.6	protein_coding	16/28				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ3_chrY_24758069_24818393	24785027	CTATGTCA others(7131): Show CTATGTCAAACCCTACTTTAAATATCAATGTAACCACGATCAGAGAAATT ACATGCCAGAAACTCACCGGGTTTATATATATATACTAAACCACGTCAGA AATCTGCCCATTCCAGAACCAGAATATATCCAGAAGTCAGCCATTTATAT GAGGAGGCATGTGGCAATCATTTCAAATAAAGGATAGCTAGATAAACTGC TAAACTTACCGAAGAATAAAGTAGGCAGACACATAAGGAGAGCTGCTTTC ATTCACTTTAGGAACTGCTTATAAGGGGGAAAGCAGCTCCGGTGAGTTGG AGGTAATACTCTCCTTTACTCCTATTCTTATTTAGGCGTCATTAACAGCA AAGCATTTCTGTTTCTCTTCTATAAATTTTCTACTGCTGGTAAAGCCAGA GGCATATTCTGTGCAGACACATGCTAATTCTAAAGTCACGTGAATACTCC CTTTCTTTGATTATATAGTCTATCATTATGTAGACCTGCCATTGCTTAAG CACATAAAAACCTGAGGACAAAAAAGGCACTGTTGCTGCCATGGGAGTTT ATAATCGGGTTAACAAGAAGGAAACAACAACAAAAAAAACATTAACATAA AAAGTCACTTAAAAATATTTGTAGGCATATATGACATGGAAAAAAATCAA GAATGAACAGGAAGTCTATGTTTGGCTAATTCCCTTAACGTCAAGGACAA CATAATCCCTTTGCTACCCAACAGGCCCCTAAGGTGGAATCTTAAAAAAT CAATCAATAAATAAAAGGAAACCAAAACTATTGAAGTATTACTACACATT TTCAAAAACACATGAGAAACACAATATTAAAGTACTTATCCTGCTGTCTC CTTTTTTATTGTAATAAAAGTAACAGAAAGGAAAACTCAAATACTTTATG TTTCTAGTCCATGACATTCTTGTTACTTTTACATTGGAAACTTCAGCTTT CTCCACATTTTCGGGATTTCGCAATGTGGAAACCTCAAAGATACTAGCTC TTTCAGTTTATTACCGTAGATATAATTATGGGTCACAGATACACTTGTAT CTATGAAAAGAGATCCAGAGCATTACTATCGTCAAACAGCCAGCTAAAAT GAAAATGTAATTGGGATTCTGTGCTCTGAAAAGTGCAGCATAATTTTATT TCAGTCTATCTCCCTAAGAAAATTCATGAAAGACACTTTGGACGTTTCAT TTAGCTATTTGACAGTAAAGATGAAAACTACATCCAGAAATGAAGAAGAG AACACCAAATCTCAGAAATCTGTTCTACAGAAAAGTTATTGCCAAGTATA TTCCTGTCAAAATACTACCTCATTATTCTAAATAACACAGAGGTCTTCAT TCTACACTAAGTGTTTCCTTAAATTTTAGGTACAATTCACTAGTTTAAAA TGAGCAACTATTCAGGAAATTTGTATGAACAAGTTAAAGGCCTCAATAAT ACCTAAAAGCAAATCATTTTACTCCCTCTGACATTACCTGATAATTGTAT ACAGGGAACTGATATCCAGTGGCGACTTGAAATGGTGAATTTGGATAAGC AGGAAATGCCTGAAAAGAAAGGTTCCAGAAAAAAATGAATACGGTAAACC ATTTTTTTAAAATTAGAAAGAAATATAATTCTGAATATAACAAAAATAGG TAAAATATTGTTTTTCTACATACAATAATGCAGAATTCTAAATGAATGAC TGACTTTATGAAGAAAGAAAGATTCTATGACAAGTGCTACACTTTGGGAG TGAAGGGGGAACTAATGACAAAAGAATTGACTATTTCACCAAAGTTTACC TTATACTGTGTACTTATTCACACCCAGAAGTTATTTCTTACACTGGTGGT AAGGCTCCATTAAGAGAGATTGCAAGGTAAGTTAAATTAATACATTTGCT ATTTCCCTGTCAGAATATTTCTAGACTGTTTTGTATCAGACAATATTATA GGACAATATATAGTTTGACAGATGTTATGGCTTTGTCTGTACTTCATTAC GAAAAACTAAGTGCAGTCTATAATCCAATACTGGACAAGAGAAAGTATAA TGTCTTATATGTTTCAAAAAATTTTTATTATCTGAAAACATACAGGTAGC AGCATACATGAATACACCCAGATTCAGTAATCGCTCACAGTAAATGACAG AAACAAGTAAGGCTTTTTTTCTAGCCATTGTTCAGAGAAGGAAAAAGAAG AGGTATACCATACATGTTTCAAGTACATGGAAAATATCACGAAATTAGAG ACAACCGCAGAACTATTTCACTATTATTTTGTTACTACATTTTCCATCAA AGAAAATGTCTTTTAAGCTAACACATCAATGAAATGAACTAAGAAGAATA TAAACGTTATTTATCAACAGTAAGTGATAGAGTATGTCAAACCCTACTTT AAATATCAATGTCACCAGGATCAGAGAAATTAGATGCCAGAAACTCAAGC GGTTTATATATATATACTAAATCACATCAGAAATCTACCCATTCCAGAAC CAGAATATATCCAGAAGTCAGCAATTTATATGAGGAGGCATCTGGAAATC ATTTCAAATAAAGGATAGCTAGATGAATTGCTAAACTTACGGAAGAATAA AGTAGGCAGACACATAAGGAGAGCTGCTTTCATTCACTTTAGGAACTGCT TATACGGGGGAAAGCTGCTCTGGTGATTTGCAGGTAATACTCTCCTTTAC TTCTATTCTTATTTAAGCATAATTAACAGCAAAGCATTTCTGTTTCTCTT CTATAAATTTACTACTGCTGGTAAAGCCAGAGGCAGATTCTATGCAGCTA CATGCTAATTCTAAAGTCACGTGAATATTACCTTTCTTTGATTATATAGT CTATCATTATGTGGAGCTGCCATTGCTTAAGCACATAAAACCCTGAGGGC AAAAAAGGCACTGTTGCTGCCATGGGAGTTTATACTCGGGTTAACAAGAA AGTAACAACAACAACAACAAACATTAATATAGAGAGTCACTTAAAAATAT TTATAGGCATATATGACATGGAAAAAAAATCAAGAATGAACAGGAAGTCT ATGTTTGGCTAATTCCCTTAACGTCAAGGACAACATAATCCCTTTGCTCC CCAACAGGCCCCTAAGGTGGCATCTTTAAAAAAAAAAAAAAAAAAAGGAA ACCAAAACTATTAAACTATTCCTACATATTTTCAAACACACATGAGAAAC ACAGTATTGAAGTACTTATTCCGCTGTCTCCTTTTTTATTATAATAAAAG TAACAGAAAGGAAAACTTAAGTACTTTATGTTTCTTGTCCATGACATTCT TGTTACTTTAAATTTGAATCTTCACCTTTCTCCAAATTTTTGGGAGTTGG CAATGTGGAAACCTCAAAAATACTAGCTCTTTCAGTTTATTACCATAGAT ATAGTTATGGGTCATAGATATACTTGTATCTATGAGAAGAGATCCTGAGA ATGACTACCGTCAAACAGCCAGCTAAAATGAAAATATAATTGGAATTCTG TGCTCTGAAAAGTGGATCATAATTTTATTTCACTCTATCTCCCTAAAAAA ATTCATGAAAGTCAGTTTGGATGTTTCATTCAGCTATTTGACAGCAAAGA TGAAAACTATATCCACAAATGAAGAAGGGGACACCAAATCTCAGAAATCT CTTCTACACAAATGTTATTGCCAAGGATATTCCTGTAAAAATATTACTTC ATTACTTCTAAATAAGACAGAGGTCTTCATTCTACACTAAGTCTTTCCTT AAATTTTAGGGACACTTCACTAGTTAAAAATGACCAACTATTCAGGAAAT TTCTATAAACAAGTTAAAGGCCTCAATAATACCTGAAAGCAAACCATTTT ACTACCTCTTACATTACCTGATAATTGTATACAGGCAACTGATATCCAGT GGTGACCTGAACTGGTGAATTTGGATAAGCAGGAAATGCCTGAAAAGGTT GCAGAAAAAATGAATATGGTAAACCACATTTTAAAATTAGAAAGAAATAT AATTCCCAATATAAGAAAAATATTACAAAACGGAAAATATCCTTTTTCTA CATACAACAATGCAGAATTCCAAATGAATGACTTTATGAGGAAAGAAAGA TTCTATGTCAAGTGCTACACTTTGGGTGTGAAGGGGGAACAAATGACAAA GAACTGACTACTTCACCAAAATTTACCTTATACTGTGTACTTATTCACAC CCAGAAATTATGTCTTACACTGGTGATAAGGTTCCACTAAGACAGATTGC AATGTAAGGTAAATCAATACATTTGCAATTTCGCTGTAAGAATATTTCCA GACTGTTTTGTATCAGACAATATTGTAGGGTAATATGTAGTTCTATAGAT GTTATGGCTTTGTCTGTATTTCATTCCAAAAAACTAATTGCAGTCTATAT TCCAATACTGGAGAATAAAAAGTATAATGTCTGACATGTTTCAACAAATT CTTATTGTTTGAAAACATACAGGTAGCAGCATACATGAATACACCCAGAA TCACTAATGCCTCACAGTAAACGAGAGAAACAAGTAGGGCTTTTTTTCTA GCCATGGTTCAGAGAAGGAAAAAGAAGAGGTATACCATACATGTTTCAAG TACATGGAAAATATCAACAAATTAGAGACACAGCAGAACGATTTCACTAT TATTTCATTACTTCATTTTCTGTCAAAGAAAATGTCTTTTAAGCTAACAC ATCAATGAAATGAACTAAGAAGAAAATAAACGATATTTATCAACAGTAAG TGACACACTATGTCAAACCCTACTTTAAATATCAATGTAACCACGATCAG AGAAATTACATGCCAGAAACTCACCGGGTTTATATATATATACTAAACCA CGTCAGAAATCTGCCCATTCCAGAACCAGAATATATCCAGAAGTCAGCCA TTTATATGAGGAGGCATGTGGCAATCATTTCAAATAAAGGATAGCTAGAT AAACTGCTAAACTTACCGAAGAATAAAGTAGGCAGACACATAAGGAGAGC TGCTTTCATTCACTTTAGGAACTGCTTATAAGGGGGAAAGCAGCTCCGGT GAGTTGGAGGTAATACTCTCCTTTACTCCTATTCTTATTTAGGCGTCATT AACAGCAAAGCATTTCTGTTTCTCTTCTATAAATTTTCTACTGCTGGTAA AGCCAGAGGCATATTCTGTGCAGACACATGCTAATTCTAAAGTCACGTGA ATACTCCCTTTCTTTGATTATATAGTCTATCATTATGTAGACCTGCCATT GCTTAAGCACATAAAAACCTGAGGACAAAAAAGGCACTGTTGCTGCCATG GGAGTTTATAATCGGGTTAACAAGAAGGAAACAACAACAAAAAAAACATT AACATAAAAAGTCACTTAAAAATATTTGTAGGCATATATGACATGGAAAA AAATCAAGAATGAACAGGAAGTCTATGTTTGGCTAATTCCCTTAACGTCA AGGACAACATAATCCCTTTGCTACCCAACAGGCCCCTAAGGTGGAATCTT AAAAAATCAATCAATAAATAAAAGGAAACCAAAACTATTGAAGTATTACT ACACATTTTCAAAAACACATGAGAAACACAATATTAAAGTACTTATCCTG CTGTCTCCTTTTTTATTGTAATAAAAGTAACAGAAAGGAAAACTCAAATA CTTTATGTTTCTAGTCCATGACATTCTTGTTACTTTTACATTGGAAACTT CAGCTTTCTCCACATTTTCGGGATTTCGCAATGTGGAAACCTCAAAGATA CTAGCTCTTTCAGTTTATTACCGTAGATATAATTATGGGTCACAGATACA CTTGTATCTATGAAAAGAGATCCAGAGCATTACTATCGTCAAACAGCCAG CTAAAATGAAAATGTAATTGGGATTCTGTGCTCTGAAAAGTGCAGCATAA TTTTATTTCAGTCTATCTCCCTAAGAAAATTCATGAAAGACACTTTGGAC GTTTCATTTAGCTATTTGACAGTAAAGATGAAAACTACATCCAGAAATGA AGAAGAGAACACCAAATCTCAGAAATCTGTTCTACAGAAAAGTTATTGCC AAGTATATTCCTGTCAAAATACTACCTCATTATTCTAAATAACACAGAGG TCTTCATTCTACACTAAGTGTTTCCTTAAATTTTAGGTACAATTCACTAG TTTAAAATGAGCAACTATTCAGGAAATTTGTATGAACAAGTTAAAGGCCT CAATAATACCTAAAAGCAAATCATTTTACTCCCTCTGACATTACCTGATA ATTGTATACAGGGAACTGATATCCAGTGGCGACTTGAAATGGTGAATTTG GATAAGCAGGAAATGCCTGAAAAGAAAGGTTCCAGAAAAAAATGAATACG GTAAACCATTTTTTTAAAATTAGAAAGAAATATAATTCTGAATATAACAA AAATAGGTAAAATATTGTTTTTCTACATACAATAATGCAGAATTCTAAAT GAATGACTGACTTTATGAAGAAAGAAAGATTCTATGACAAGTGCTACACT TTGGGAGTGAAGGGGGAACTAATGACAAAAGAATTGACTATTTCACCAAA GTTTACCTTATACTGTGTACTTATTCACACCCAGAAGTTATTTCTTACAC TGGTGGTAAGGCTCCATTAAGAGAGATTGCAAGGTAAGTTAAATTAATAC ATTTGCTATTTCCCTGTCAGAATATTTCTAGACTGTTTTGTATCAGACAA TATTATAGGACAATATATAGTTTGACAGATGTTATGGCTTTGTCTGTACT TCATTACGAAAAACTAAGTGCAGTCTATAATCCAATACTGGACAAGAGAA AGTATAATGTCTTATATGTTTCAAAAAATTTTTATTATCTGAAAACATAC AGGTAGCAGCATACATGAATACACCCAGATTCAGTAATCGCTCACAGTAA ATGACAGAAACAAGTAAGGCTTTTTTTCTAGCCATTGTTCAGAGAAGGAA AAAGAAGAGGTATACCATACATGTTTCAAGTACATGGAAAATATCACGAA ATTAGAGACAACCGCAGAACTATTTCACTATTATTTTGTTACTACATTTT CCATCAAAGAAAATGTCTTTTAAGCTAACACATCAATGAAATGAACTAAG AAGAATATAAACGTTATTTATCAACAGTAAGTGATAGAG	C C	exon_loss_variant exon_loss_variant	HIGH	HG02055.hp1 HG02258.hp1 HG02717.hp1 others(7): Show HG02055.hp1 HG02258.hp1 HG02717.hp1 HG02895.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0007 others(5): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0002g0008	10	45	0.2222	-7138	c.859 others(16): Show c.859-823_1075-820del		DAZ3	ENSG00000187191.16	transcript	ENST00000382365.7	protein_coding	14/19					chrY	TogoVar
DAZ4_chrY_24828919_24912040	24861624	GTGAAGTA others(4773): Show GTGAAGTACAGACAAAGCCATAACATCTGTCAGACTATATATTGTCCTAT AATATTGTCTGATACAAAACAGTCTAGAAATATTCTGACAGGGAAATAGC AAATGTATTAATTTAACTTACCTTGCAATCTCTCTTAATGGAGCCTTACC ACCAGTGTAAGAAATAACTTCTGGGTGTGAATAAGTACACAGTATAAGGT AAACTTTGGTGAAATAGTCAATTCTTTTGTCATTAGTTCCCCCTTCACTC CCAAAGTGTAGCACTTGTCATAGAATCTTTCTTTCTTCATAAAGTCAGTC ATTCATTTAGAATTCTGCATTATTGTATGTAGAAAAACAATATTTTACCT ATTTTTGTTATATTCAGAATTATATTTCTTTCTAATTTTAAAAAAATGGT TTACCGTATTCATTTTTTTCTGGAACCTTTCTTTTCAGGCATTTCCTGCT TATCCAAATTCACCATTTCAAGTCGCCACTGGATATCAGTTCCCTGTATA CAATTATCAGGTAATGTCAGAGGGAGTAAAATGATTTGCTTTTAGGTATT ATTGAGGCCTTTAACTTGTTCATACAAATTTCCTGAATAGTTGCTCATTT TAAACTAGTGAATTGTACCTAAAATTTAAGGAAACACTTAGTGTAGAATG AAGACCTCTGTGTTATTTAGAATAATGAGGTAGTATTTTGACAGGAATAT ACTTGGCAATAACTTTTCTGTAGAACAGATTTCTGAGATTTGGTGTTCTC TTCTTCATTTCTGGATGTAGTTTTCATCTTTACTGTCAAATAGCTAAATG AAACGTCCAAAGTGTCTTTCATGAATTTTCTTAGGGAGATAGACTGAAAT AAAATTATGCTGCACTTTTCAGAGCACAGAATCCCAATTACATTTTCATT TTAGCTGGCTGTTTGACGATAGTAATGCTCTGGATCTCTTTTCATAGATA CAAGTGTATCTGTGACCCATAATTATATCTACGGTAATAAACTGAAAGAG CTAGTATCTTTGAGGTTTCCACATTGCGAAATCCCGAAAATGTGGAGAGA GCTGAAGTTTCCAATGTAAAAGTAACAAGAATGTCATGGACTAGAAACAT AAAGTATTTGAGTTTTCCTTTCTGTTACTTTTATTACAATAAAAAAGGAG ACAGCAGGATAAGTACTTTAATATTGTGTTTCTCATGTGTTTTTGAAAAT GTGTAGTAATACTTCAATAGTTTTGGTTTCCTTTTATTTATTGATTGATT TTTTAAGATTCCACCTTAGGGGCCTGTTGGGTAGCAAAGGGATTATGTTG TCCTTGACGTTAAGGGAATTAGCCAAACATAGACTTCCTGTTCATTCTTG ATTTTTTTCCATGTCATATATGCCTACAAATATTTTTAAGTGACTTTTTA TGTTAATGTTTTTTTTGTTGTTGTTTCCTTCTTGTTAACCCGATTATAAA CTCCCATGGCAGCAACAGTGCCTTTTTTGTCCTCAGGTTTTTATGTGCTT AAGCAATGGCAGGTCTACATAATGATAGACTATATAATCAAAGAAAGGGA GTATTCACGTGACTTTAGAATTAGCATGTGTCTGCACAGAATATGCCTCT GGCTTTACCAGCAGTAGAAAATTTATAGAAGAGAAACAGAAATGCTTTGC TGTTAATGACGCCTAAATAAGAATAGGAGTAAAGGAGAGTATTACCTCCA AATCACCGGAGCTGCTTTCCCCCTTATAAGCAGTTCCTAAAGTGAATGAA AGCAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCGGTAAGTTTAGCA GTTCATCTAGCTATCCTTTATTTGAAATGATTTCCAGATGCCTCCTCATA TAAATTGCTGACTTCTGGATATTTCCTGGTTCTGGAATGGGTAGATTTCT GATGTGGTTTAGTATATATATGTAAACCCCGTGAGCTTCTGGCATCTAAT TTCTCTGATCCTGGTTACATTGATATTTAAAGTAGGGTTTGACATACTCT GTCACCTACTGTTGATAAATAACGTTTATATTCTTCTTAGTTCATTTTAT TGACGTGTTAGCTTTAAAGACATTTTCTTTGACGGAAAATGAAGTAACAA AATAATAGTGAAATAGTTCTGCAGTGTCTCTAATTTGTTGATATTTTCCA TGTACTTGAAACTTGTATGGTATACCTCTTCTTTTTCCTTCTCTGAACAA TGGCTAGAAAAAAAGTCCTACTTTTTTCTGTCATTTACTGTGAGGCATCA CTGATTCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTTTCAAACAA TAAGAATTTATTGAAACATGTAAGACATTATACTTTCTCTTCTCCAGTAT TGGATCATAGACTGCACTTAGTTTTTCGTAATGAAGTACAGACAAAGCCA TAACATCTGTCGAACTACATATTACCCTATAATATTGTCTGATACAAAAC AGTCTAGAAATATTCTTACAGAGAAATTGCAAATGTATTAATTTAACTTA CCTTGCAATCTCTCTTAATGGAGCCTTACCACCAGTGTAAGAAATAACGT CTGGGTGTGAATAAGTACACAGTATAAGGTAAACTTTGGTGAAGTAGTCA ATTTTGTCATTTGTTCCCCCTTCACACCCATAGTGTAGCACTTGACCTAG AATCTTTCTTTCTTCATAAAGTCAGTCATTCATTTGGAATTCTGCATTGT TGTACGTAGAAAAAGGATATTTTACCTTTTGTAATATTTTTGTTATATTG GGAATTATGTTTCTTTGTAATTTTAAAAAGTGGTTTACCATATTCATTTT TTTCTGCAACCTTTCTTTTCAGCCATTTCCTGCTTATCCAAGTTCACCAT TTCAGGTCACTGCTGGATATCAGTTGCCTGTATATAATTATCAGGTAATG TAAGAAGGAGTAAAATGATTTACTTTCAGGTATTATTGAGGCATTCAACT TGTTTATACAAATTTCCTGAATAGCTGGTCATTTTAAATTAGTGAAGTGT ACCTAAAATTTAAGGAAACACGTAGAAGTAGTGTAGAATGAAGACCTCTG TCTTATTTAGAAGTAATGAAGTAGTATTTTGAGAGGAATATACTTGGCAA TAACTTTTCTGTAGAAGAGATTTCTGAGATGTGGTGTTCTCTTCTTTATT TCTGGATGCAGTTTTCATCTTTACTGTGAAATAGCTGAATGAAACATCCA AACTGACTTTCATGAATTTTCTTAGGGAGATAGAGTGAAATAAATTTATG CTGCACTTTTCAGAGCACAGAATCCCAATTACATTTTCATTTTAGCTGGC TGTTTGAAGATAGTAATGCTCTGGATCTCTTTTCATAGATACAAGTATAT CTATGACCCATAATTACATCTATGGTAAGAAACTGAAAGAGGTAGTATCT TTGAGGTTTCCACGTTGCCAACTCCCGAAAATTTGGAGAAAGGTGAAGTT TCCAATATAAAAGTAACAAGAATGTCATGGACTAGAAACATAAAGTACTT AAGTTTTCCTTTCTGTTACTTTTATTATAATGAAAAAGGAGACAGCCGGA TAAGTACTTCAATGTTGTATTTCTCATGTGTTTTTGAAAATGTGTAGGAA TACATATAATAGTTTCGGTGTCCTTTTTTTTTCTTTCTTTTTCTTTCTTT TTTTTTTTTAAGATGCCACCATAAGGTCCTGTTGGGGAGCAAAGGATTAT GTTGTCCTTGACGTTAAGTGAATTAGCCAAACATAGATTTCCTGTTCATT CTTGATTTTTTTCCATGTCATATATGCCTATAAATATTTTTAAGTGATTC TTTATATTAATTTTTTTGTTGTTGTTACTTTCTTGTTAACCCGATTATAA ACTCCCATGGGAGCAAGAGTGCCTTTTTTGCCCTCAGGTTTTTATGTGGT TAAGCAATGGCAGGTCCATATAATGACAGACTATATAATCAAAGAAAGGT AGTGTTCATGTGACTTTACAATTAGCATGTATCTGCATAGAATCTGCCTC TGGCTTTACCAGCAATAGAATATTTATAGAAGAGAAACAGAAATGCTTTG CTGTTAATGACGCTTAAATGAGAATAGGAGTAAACGAGAGTATTACCGCC AAATCACCGGAGCTGCTTTCCCCCTTATAACCAGTTCCTAAAGTGAATGA AAGCAGCTCCCCTTATGTGTCTGCCTACTTTATTCTTTGGTAAGTTTAGC AGTTCATCTAGCTATTCTTTATTTGAAATGATTTCCGGATGCCTCCTCAT ATAAATTGCTGACTTCTGGAAATATTCTTCTTCTGGAATGGGTAGATTTC TGATGTGGTTTAGTATATATATAAACCCCGTGAGCTTCTGGCGTCTAATT TCTCTGATTCTGGTTACACTGATATTTAAAGTAGGGTTTGACATACTCCA TCACTTAATGTTGATAACTAACCTTTATATTCTTCTTAGTTCGTTTTATT TATGTGTTAGCTTAAAAGACATTTTCTTTGATGGAAAATGAAGTAACAAA ATAATAGTGAAATAGTTCTGCGGTTGTCTCTAATTTCGTGATATTTTCCA TGTACTTGAAACATGTATGGTATACCTCTTCTTTTTCCTTCTCTGAACAA TGGCTAGAAAAAAAGCCTTACTTGTTTCTGTCATTTACTGTGAGCGATTA CTGAATCTGGGTGTATTCATGTATGCTGCTACCTGTATGTTTTCAGATAA TAAAAATTTTTTGAAACATATAAGACATTATACTTTCTCTTGTCCAGTAT TGGATTATAGACTGCACTTAGTTTTTCGTAA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00140.hp1 HG00609.hp1 HG01074.hp2 others(25): Show HG00140.hp1 HG00609.hp1 HG01074.hp2 HG01106.hp1 HG01192.hp1 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02258.hp1 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG04199.hp1 NA18522.hp1 NA18982.hp1 NA19000.hp1 NA19007.hp1 NA19070.hp1 NA19072.hp1 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0008	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0005c0005 a0007c0013 a0008c0012	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0005c0005t0001 a0007c0013t0001 a0008c0012t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(25): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0040 a0002c0002t0001g0012 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0041 a0003c0004t0001g0003 a0003c0004t0001g0004 a0003c0004t0001g0006 a0003c0004t0001g0017 a0003c0004t0001g0018 a0003c0004t0001g0039 a0005c0005t0001g0001 a0005c0005t0001g0030 a0007c0013t0001g0036 a0008c0012t0001g0032	28	41	0.6829	-4780	c.121 others(17): Show c.1210-406_1354-407del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	15/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DAZ4_chrY_24828919_24912040	24871328	CTTCTGGG others(4749): Show CTTCTGGGTGTGAATAAGTACACAGTATAAGGTAAACTTTGGTGAAATAG TCAATTCTTTTGTCATTAGTTCCCCCTTCACTCCCAAAGTGTAGCACTTG TCATAGAATCTTTCTTTCTTCATAAAGTCAGTCATTCATTTAGAATTCTG CATTATTGTATGTAGAAAAACAATATTTTACCTATTTTTGTTATATTCAG AATTATATTTCTTTCTAATTTTAAAAAAATGGTTTACCGTATTCATTTTT TTCTGGAACCTTTCTTTTCAGGCATTTCCTGCTTATCCAAATTCACCATT TCAAGTCGCCACTGGATATCAGTTCCCTGTATACAATTATCAGGTAATGT CAGAGGGAGTAAAATGATTTGCTTTTAGGTATTATTGAGGCCTTTAACTT GTTCATACAAATTTCCTGAATAGTTGCTCATTTTAAACTAGTGAATTGTA CCTAAAATTTAAGGAAACACTTAGTGTAGAATGAAGACCTCTGTGTTATT TAGAATAATGAGGTAGTATTTTGACAGGAATATACTTGGCAATAACTTTT CTGTAGAACAGATTTCTGAGATTTGGTGTTCTCTTCTTCATTTCTGGATG TAGTTTTCATCTTTACTGTCAAATAGCTAAATGAAACGTCCAAAGTGTCT TTCATGAATTTTCTTAGGGAGATAGACTGAAATAAAATTATGCTGCACTT TTCAGAGCACAGAATCCCAATTACATTTTCATTTTAGCTGGCTGTTTGAC GATAGTAATGCTCTGGATCTCTTTTCATAGATACAAGTGTATCTGTGACC CATAATTATATCTACGGTAATAAACTGAAAGAGCTAGTATCTTTGAGGTT TCCACATTGCGAAATCCCGAAAATGTGGAGAAAGCTGAAGTTTCCAATGT AAAAGTAACAAGAATGTCATGGACTAGAAACATAAAGTATTTGAGTTTTC CTTTCTGTTACTTTTATTACAATAAAAAAGGAGACAGCAGGATAAGTACT TTAATATTGTGTTTCTCATGTGTTTTTGAAAATGTGTAGTAATACTTCAA TAGTTTTGGTTTCCTTTTATTTATTGATTGATTTTTTAAGATTCCACCTT AGGGGCCTGTTGGGTAGCAAAGGGATTATGTTGTCCTTGACGTTAAGGGA ATTAGCCAAACATAGACTTCCTGTTCATTCTTGATTTTTTTCCATGTCAT ATATGCCTACAAATATTTTTAAGTGACTTTTTATGTTAATGTTTTTTTTG TTGTTGTTTCCTTCTTGTTAACCCGATTATAAACTCCCATGGCAGCAACA GTGCCTTTTTTGTCCTCAGGTTTTTATGTGCTTAAGCAATGGCAGGTCTA CATAATGATAGACTATATAATCAAAGAAAGGGAGTATTCACGTGACTTTA GAATTAGCATGTGTCTGCACAGAATATGCCTCTGGCTTTACCAGCAGTAG AAAATTTATAGAAGAGAAACAGAAATGCTTTGCTGTTAATGACGCCTAAA TAAGAATAGGAGTAAAGGAGAGTATTACCTCCAACTCACCGGAGCTGCTT TCCCCCTTATAAGCAGTTCCTAAAGTGAATGAAAGCAGCTCTCCTTATGT GTCTGCCTACTTTATTCTTCGGTAAGTTTAGCAGTTTATCTAGCTATCCT TTATTTGAAATGATTGCCACATGCCTCCTCATATAAATGGCTGACTTCTG GATATATTCTGGTTCTGGAATGGGCAGATTTCTGACGTGGTTTAGTATAT ATATATAAACCCGGTGAGTTTCTGGCATGTAATTTCTCTGATCGTGGTTA CATTGATATTTAAAGTAGGGTTTGACATAGTGTGTCACTTACTGTTGATA AATATCGTTTATTTTCTTCTTAGTTCATTTCATTGATGTGTTAGCTTAAA AGACATTTTCTTTGACAGAAAATGAAGTAATGAAATAATAGTGAAATCGT TCTGCTGTGTCTCTAATTTGTTGATATTTTCCATGTACTTGAAACATGTA TGGTATACCTCTTCTTTTTCCTTCTCTGAACCATGGCTAGAAAAAAAGCC CTACTTGTTTCTCTCGTTTACTGTGAGGCATTAGTGATTCTGGGTGTATT CATGTATGCTGCTACCTGTATGTTTTCAAACAATAAGAATTTGTTGAAAC ATGTCAGACATTATACTTTTTATTCTCCAGTATTGGAATATAGACTGCAA TTAGTTTTTTGGAATGAAATACAGACAAAGCCATAACATCTATAGAACTA CATATTACCCTACAATATTGTCTGATACAAAACAGTCTGGAAATATTCTT ACAGCGAAATTGCAAATGTATTGATTTACCTTACATTGCAATCTGTCTTA GTGGAACCTTATCACCAGTGTAAGACATAATTTCTGGGTGTGAATAAGTA CACAGTATAAGGTAAATTTTGGTGAAGTAGTCAGTTCTTTGTCATTTGTT CCCCCTTCACACCCAAAGTGTAGCACTTGACATAGAATCTTTCTTTCCTC ATAAAGTCATTCATTTGGAATTCTGCATTGTTGTATGTAGAAAAAGGATA TTTTCCGTTTTGTAATATTTTTCTTATATTGGGAATTATATTTCTTTCTA ATTTTAAAATGTGGTTTACCATATTCATTTTTTCTGCAACCTTTTCAGGC ATTTCCTGCTTATCCAAATTCACCAGTTCAGGTCACCACTGGATATCAGT TGCCTGTATACAATTATCAGGTAATGTAAGAGGTAGTAAAATGGTTTGCT TTCAGGTATTATTGAGGCCTTTAACTTGTTTATAGAAATTTCCTGAATAG TTGGTCATTTTTAACTAGTGAAGTGTCCCTAAAATTTAAGGAAAGACTTA GTGTAGAATGAAGACCTCTGTCTTATTTAGAAGTAATGAAGTAATATTTT TACAGGAATATCCTTGGCAATAACATTTGTGTAGAAGAGATTTCTGAGAT TTGGTGTCCCCTTCTTCATTTGTGGATATAGTTTTCATCTTTGCTGTCAA ATAGCTGAATGAAACATCCAAACTGACTTTCATGAATTTTTTTAGGGAGA TAGAGTGAAATAAAATTATGATCCACTTTTCAGAGCACAGAATTCCAATT ATATTTTCATTTTAGCTGGCTGTTTGACGGTAGTCATTCTCAGGATCTCT TCTCATAGATACAAGTATATCTATGACCCATAACTATATCTATGGTAATA AACTGAAAGAGCTAGTATTTTTGAGGTTTCCACATTGCCAACTCCCAAAA ATTTGGAGAAAGGTGAAGATTCAAATTTAAAGTAACAAGAATGTCATGGA CAAGAAACATAAAGTACTTAAGTTTTCCTTTCTGTTACTTTTATTATAAT AAAAAAGGAGACAGCGGAATAAGTACTTCAATACTGTGTTTCTCATGTGT GTTTGAAAATATGTAGGAATAGTTTAATAGTTTTGGTTTCCTTTTTTTTT TTTTTTTTTTAAAGATGCCACCTTAGGGGCCTGTTGGGGAGCAAAGGGAT TATGTTGTCCTTGACGTTAAGGGAATTAGCCAAACATAGACTTCCTGTTC ATTCTTGATTTTTTTTCCATGTCATATATGCCTATAAATATTTTTAAGTG ACTCTCTATATTAATGTTTGTTGTTGTTGTTGTTACTTTCTTGTTAACCC GAGTATAAACTCCCATGGCAGCAACAGTGCCTTTTTTGCCCTCAGGGTTT TATGTGCTTAAGCAATGGCAGCTCCACATAATGATAGACTATATAATCAA AGAAAGGTAATATTCACGTGACTTTAGAATTAGCATGTAGCTGCATAGAA TCTGCCTCTGGCTTTACCAGCAGTAGTAAATTTATAGAAGAGAAACAGAA ATGCTTTGCTGTTAATTATGCTTAAATAAGAATAGAAGTAAAGGAGAGTA TTACCTGCAAATCACCAGAGCAGCTTTCCCCCGTATAAGCAGTTCCTAAA GTGAATGAAAGCAGCTCTCCTTATGTGTCTGCCTACTTTATTCTTCCGTA AGTTTAGCAATTCATCTAGCTATCCTTTATTTGAAATGATTTCCAGATGC CTCCTCATATAAATTGCTGACTTCTGGATATATTCTGGTTCTGGAATGGG TAGATTTCTGATGTGATTTAGTATATATATATAAACCGCTTGAGTTTCTG GCATCTAATTTCTCTGATCCTGGTGACATTGATATTTAAAGTAGGGTTTG ACATACTCTATCACTTACTGTTGATAAATAACGTTTATATTCTTCTTAGT TCATTTCATTGATGTGTTAGCTTAAAAGACATTTTCTTTGATGGAAAATG TAGTAACAAAATAATAGTGAAATAGTTCTGCAGTGTTTCTAATTTGTTGA TATTTTCCATGTACTTGAAACATGTATGGTATACCTCTTCTTTTTCCTTC TCTGAACCATGGCTAGAAAAAAAGCCCTACTTGTTTCTCTCGTTTACTGT GAGGCATTAGTGATTCTGGGTGTATTCATGTATGCTGCTACCTGTATGTT TTCAAACAATAAGAATTTGTTGAAACATGTCAGACATTATACTTTTTATT CTCCAGTATTGGAATATAGACTGCAATTAGTTTTTTGGAATGAAATACAG ACAAAGCCATAACATCTATAGAACTACATATTACCCTACAATATTGTCTG ATACAAAACAGTCTGGAAATATTCTTACAGCGAAATTGCAAATGTATTGA TTTACCTTACATTGCAATCTGTCTTAGTGGAACCTTATCACCAGTGTAAG ACATAAT	C C	exon_loss_variant exon_loss_variant	HIGH	HG01106.hp1 HG02055.hp1 HG02258.hp1 others(5): Show HG01106.hp1 HG02055.hp1 HG02258.hp1 HG02895.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0040	8	41	0.1951	-4756	c.149 others(18): Show c.1498-225_1641+2082del		DAZ4	ENSG00000205916.12	transcript	ENST00000682740.1	protein_coding	19/29				INFO_REALIGN_3_PRIME	chrY	TogoVar
DCANP1_chr5_135439214_135452348	135446760	T T	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0012 others(3): Show a0001c0001 a0001c0003 a0001c0012 a0005c0006 a0006c0013 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0003t0001 a0001c0003t0011 a0001c0003t0023 a0001c0003t0034 a0001c0012t0007 a0005c0006t0001 a0006c0013t0003 a0007c0011t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(28): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0001t0013g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0001t0017g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0026g0000 a0001c0001t0028g0000 a0001c0001t0029g0000 a0001c0001t0030g0000 a0001c0001t0031g0000 a0001c0001t0032g0000 a0001c0001t0033g0000 a0001c0003t0001g0000 a0001c0003t0011g0000 a0001c0003t0023g0000 a0001c0003t0034g0000 a0001c0012t0007g0000 a0005c0006t0001g0000 a0006c0013t0003g0000 a0007c0011t0001g0000	268	456	0.5877	0	c.349 others(3): Show c.349A>T	p.Arg others(4): Show p.Arg117*	DCANP1	ENSG00000251380.3	transcript	ENST00000503143.3	protein_coding	1/1	589/3135	349/735	117/244		chr5	TogoVar
DEFB126_chr20_137590_150751	145514	GCAAA GCAAA	G G	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00642.hp2 HG00673.hp1 others(59): Show HG00323.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18906.hp2 NA18951.hp2 NA18953.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18981.hp2 NA18992.hp1 NA18994.hp1 NA19001.hp1 NA19006.hp2 NA19043.hp2 NA19058.hp1 NA19078.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0009 a0002c0003 a0002c0006 a0002c0009	a0002c0003t0001 a0002c0006t0001 a0002c0009t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001	a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 others(5): Show a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0006t0001g0005 a0002c0009t0001g0009	62	460	0.1348	-4	c.163 others(11): Show c.163_166delCAAA	p.Gln others(4): Show p.Gln55fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	202/434	163/336	55/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DEFB126_chr20_137590_150751	145669	ACC ACC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0002 a0000c0004 a0002c0003 others(2): Show a0000c0002 a0000c0004 a0002c0003 a0002c0006 a0002c0009	a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 others(2): Show a0000c0002t0001 a0000c0004t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001	a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 others(16): Show a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0003 a0000c0002t0001g0004 a0000c0002t0001g0006 a0000c0002t0001g0008 a0000c0002t0001g0010 a0000c0002t0001g0013 a0000c0002t0001g0014 a0000c0004t0001g0005 a0000c0004t0001g0019 a0002c0003t0001g0004 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0020 a0002c0006t0001g0005 a0002c0009t0001g0009	233	460	0.5065	-2	c.317 others(9): Show c.317_318delCC	p.Pro others(5): Show p.Pro106fs	DEFB126	ENSG00000125788.6	transcript	ENST00000382398.4	protein_coding	2/2	356/434	317/336	106/111	INFO_REALIGN_3_PRIME	chr20	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(1): Show CTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00639.hp1 others(23): Show HG00099.hp2 HG00140.hp1 HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01496.hp1 HG01975.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG04199.hp1 NA19074.hp2 NA19091.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0026 others(1): Show a0001c0001 a0001c0004 a0001c0026 a0003c0007	a0001c0001t0002 a0001c0001t0016 a0001c0001t0029 others(14): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0029 a0001c0001t0031 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0079 a0001c0004t0001 a0001c0004t0009 a0001c0004t0020 a0001c0004t0027 a0001c0004t0040 a0001c0004t0041 a0001c0004t0108 a0001c0026t0048 a0003c0007t0009	a0001c0001t0002g0041 a0001c0001t0002g0107 a0001c0001t0002g0152 others(22): Show a0001c0001t0002g0041 a0001c0001t0002g0107 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0297 a0001c0001t0016g0076 a0001c0001t0029g0034 a0001c0001t0031g0293 a0001c0001t0060g0020 a0001c0001t0062g0075 a0001c0001t0063g0059 a0001c0001t0079g0280 a0001c0004t0001g0008 a0001c0004t0009g0275 a0001c0004t0020g0313 a0001c0004t0027g0141 a0001c0004t0027g0156 a0001c0004t0040g0063 a0001c0004t0041g0165 a0001c0004t0108g0206 a0001c0026t0048g0240 a0003c0007t0009g0001 a0003c0007t0009g0244 a0003c0007t0009g0245 a0003c0007t0009g0246	26	316	0.0823	8	c.623 others(20): Show c.623-10_623-3dupTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0013 a0001c0008t0013	a0001c0008t0013g0207 a0001c0008t0013g0207	1	316	0.0032	36	c.623 others(47): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DIAPH2_chrX_96679842_97609997	96916417	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01358.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18983.hp1 NA18989.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19056.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 others(53): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0089 a0001c0001t0002g0109 a0001c0001t0002g0139 a0001c0001t0003g0006 a0001c0001t0003g0025 a0001c0001t0004g0147 a0001c0001t0005g0040 a0001c0001t0006g0005 a0001c0001t0007g0049 a0001c0001t0007g0101 a0001c0001t0008g0041 a0001c0001t0009g0036 a0001c0001t0009g0099 a0001c0001t0010g0028 a0001c0001t0011g0001 a0001c0001t0011g0002 a0001c0001t0012g0003 a0001c0001t0012g0143 a0001c0001t0013g0141 a0001c0001t0014g0012 a0001c0001t0015g0144 a0001c0001t0019g0102 a0001c0001t0020g0146 a0001c0001t0022g0112 a0001c0003t0001g0136 a0001c0004t0001g0140	56	147	0.3810	1	c.733 others(6): Show c.733-3dupT		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	7/26				INFO_REALIGN_3_PRIME	chrX	TogoVar
DNAAF4_chr15_55425308_55513234	55430684	C C	A A	stop_gained stop_gained	HIGH	HG00642.hp2 HG00738.hp2 HG01069.hp1 others(50): Show HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18989.hp1 NA19030.hp1 NA19240.hp2 NA20805.hp2	a0004 a0005 a0004 a0005	a0004c0005 a0004c0007 a0005c0004 a0004c0005 a0004c0007 a0005c0004	a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 others(5): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0007t0003 a0005c0004t0003 a0005c0004t0005	a0004c0005t0001g0124 a0004c0005t0001g0212 a0004c0005t0001g0296 others(50): Show a0004c0005t0001g0124 a0004c0005t0001g0212 a0004c0005t0001g0296 a0004c0005t0002g0274 a0004c0005t0002g0275 a0004c0005t0002g0276 a0004c0005t0002g0277 a0004c0005t0002g0278 a0004c0005t0002g0279 a0004c0005t0002g0280 a0004c0005t0002g0281 a0004c0005t0002g0282 a0004c0005t0003g0254 a0004c0005t0003g0255 a0004c0005t0003g0256 a0004c0005t0003g0298 a0004c0005t0003g0300 a0004c0005t0003g0301 a0004c0005t0003g0302 a0004c0005t0003g0303 a0004c0005t0005g0286 a0004c0005t0005g0287 a0004c0005t0005g0288 a0004c0005t0005g0289 a0004c0005t0007g0285 a0004c0005t0007g0290 a0004c0007t0003g0299 a0005c0004t0003g0066 a0005c0004t0003g0258 a0005c0004t0003g0259 a0005c0004t0003g0260 a0005c0004t0003g0283 a0005c0004t0003g0284 a0005c0004t0003g0320 a0005c0004t0003g0321 a0005c0004t0003g0322 a0005c0004t0003g0323 a0005c0004t0003g0324 a0005c0004t0003g0325 a0005c0004t0003g0326 a0005c0004t0003g0327 a0005c0004t0003g0328 a0005c0004t0003g0329 a0005c0004t0003g0330 a0005c0004t0003g0331 a0005c0004t0003g0332 a0005c0004t0003g0333 a0005c0004t0003g0334 a0005c0004t0003g0335 a0005c0004t0003g0336 a0005c0004t0003g0337 a0005c0004t0003g0338 a0005c0004t0005g0257	53	338	0.1568	0	c.124 others(4): Show c.1249G>T	p.Glu others(4): Show p.Glu417*	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	10/10	1617/1993	1249/1263	417/420		chr15	TogoVar
DNAH11_chr7_21538039_21906839	21543345	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show HG00099.hp2 HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18992.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19057.hp2 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0008 a0009 a0016 others(81): Show a0008 a0009 a0016 a0017 a0018 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0159 a0160 a0161 a0162 a0163 a0164 a0165 a0166 a0167 a0168 a0169 a0170 a0171 a0172 a0173 a0174 a0175 a0176 a0177 a0178 a0179 a0180 a0181 a0182 a0183 a0184 a0185 a0186 a0187 a0188 a0189 a0190 a0191 a0192 a0193 a0194 a0195 a0196 a0197 a0198 a0199 a0200 a0201 a0202 a0203 a0204 a0205 a0206 a0207 a0208 a0209 a0210 a0211 a0212 a0213 a0214 a0215 a0216 a0217 a0218 a0219 a0220 a0221 a0222 a0223 a0224 a0225 a0226	a0008c0214 a0008c0262 a0008c0266 others(98): Show a0008c0214 a0008c0262 a0008c0266 a0008c0272 a0009c0210 a0009c0212 a0009c0217 a0009c0270 a0016c0268 a0016c0271 a0016c0277 a0017c0016 a0017c0199 a0018c0017 a0018c0202 a0031c0218 a0031c0263 a0032c0244 a0032c0267 a0033c0021 a0034c0020 a0035c0198 a0035c0203 a0036c0229 a0036c0237 a0037c0224 a0037c0226 a0038c0019 a0039c0222 a0039c0223 a0040c0018 a0041c0253 a0041c0254 a0159c0251 a0160c0240 a0161c0250 a0162c0239 a0163c0252 a0164c0193 a0165c0184 a0166c0191 a0167c0192 a0168c0183 a0169c0188 a0170c0190 a0171c0189 a0172c0186 a0173c0187 a0174c0185 a0175c0242 a0176c0216 a0177c0246 a0178c0243 a0179c0264 a0180c0269 a0181c0265 a0182c0273 a0183c0211 a0184c0276 a0185c0245 a0186c0247 a0187c0248 a0188c0209 a0189c0206 a0190c0205 a0191c0201 a0192c0200 a0193c0196 a0194c0204 a0195c0213 a0196c0215 a0197c0194 a0198c0207 a0199c0197 a0200c0195 a0201c0208 a0202c0241 a0203c0231 a0204c0236 a0205c0225 a0206c0230 a0207c0235 a0208c0232 a0209c0234 a0210c0228 a0211c0233 a0212c0227 a0213c0238 a0214c0220 a0215c0221 a0216c0219 a0217c0274 a0218c0275 a0219c0249 a0220c0255 a0221c0256 a0222c0258 a0223c0259 a0224c0261 a0225c0257 a0226c0260	a0008c0214t0006 a0008c0262t0001 a0008c0266t0005 others(99): Show a0008c0214t0006 a0008c0262t0001 a0008c0266t0005 a0008c0272t0001 a0009c0210t0001 a0009c0212t0001 a0009c0217t0001 a0009c0270t0006 a0016c0268t0002 a0016c0271t0002 a0016c0277t0002 a0017c0016t0003 a0017c0199t0003 a0018c0017t0011 a0018c0202t0006 a0031c0218t0002 a0031c0263t0002 a0032c0244t0003 a0032c0267t0005 a0033c0021t0002 a0033c0021t0004 a0034c0020t0006 a0035c0198t0002 a0035c0203t0002 a0036c0229t0005 a0036c0237t0005 a0037c0224t0001 a0037c0226t0001 a0038c0019t0003 a0039c0222t0002 a0039c0223t0002 a0040c0018t0001 a0041c0253t0003 a0041c0254t0003 a0159c0251t0004 a0160c0240t0004 a0161c0250t0002 a0162c0239t0003 a0163c0252t0001 a0164c0193t0004 a0165c0184t0001 a0166c0191t0003 a0167c0192t0005 a0168c0183t0004 a0169c0188t0003 a0170c0190t0026 a0171c0189t0021 a0172c0186t0001 a0173c0187t0024 a0174c0185t0001 a0175c0242t0001 a0176c0216t0003 a0177c0246t0001 a0178c0243t0002 a0179c0264t0005 a0180c0269t0004 a0181c0265t0003 a0182c0273t0017 a0183c0211t0012 a0184c0276t0013 a0185c0245t0005 a0186c0247t0002 a0187c0248t0001 a0188c0209t0002 a0189c0206t0004 a0190c0205t0001 a0191c0201t0003 a0192c0200t0012 a0193c0196t0023 a0194c0204t0002 a0195c0213t0003 a0196c0215t0003 a0197c0194t0001 a0198c0207t0002 a0199c0197t0004 a0200c0195t0002 a0201c0208t0006 a0202c0241t0001 a0203c0231t0005 a0204c0236t0002 a0205c0225t0002 a0206c0230t0010 a0207c0235t0001 a0208c0232t0003 a0209c0234t0005 a0210c0228t0003 a0211c0233t0002 a0212c0227t0003 a0213c0238t0003 a0214c0220t0001 a0215c0221t0001 a0216c0219t0001 a0217c0274t0003 a0218c0275t0002 a0219c0249t0002 a0220c0255t0002 a0221c0256t0007 a0222c0258t0007 a0223c0259t0007 a0224c0261t0007 a0225c0257t0007 a0226c0260t0016	a0008c0214t0006g0175 a0008c0262t0001g0139 a0008c0266t0005g0137 others(104): Show a0008c0214t0006g0175 a0008c0262t0001g0139 a0008c0266t0005g0137 a0008c0272t0001g0185 a0009c0210t0001g0209 a0009c0212t0001g0216 a0009c0217t0001g0182 a0009c0270t0006g0148 a0016c0268t0002g0150 a0016c0271t0002g0153 a0016c0277t0002g0155 a0017c0016t0003g0172 a0017c0016t0003g0173 a0017c0199t0003g0141 a0018c0017t0011g0170 a0018c0017t0011g0171 a0018c0202t0006g0163 a0031c0218t0002g0130 a0031c0263t0002g0140 a0032c0244t0003g0180 a0032c0267t0005g0186 a0033c0021t0002g0144 a0033c0021t0004g0152 a0034c0020t0006g0138 a0034c0020t0006g0145 a0035c0198t0002g0143 a0035c0203t0002g0162 a0036c0229t0005g0207 a0036c0237t0005g0201 a0037c0224t0001g0218 a0037c0226t0001g0136 a0038c0019t0003g0156 a0038c0019t0003g0190 a0039c0222t0002g0181 a0039c0223t0002g0178 a0040c0018t0001g0128 a0040c0018t0001g0157 a0041c0253t0003g0179 a0041c0254t0003g0161 a0159c0251t0004g0198 a0160c0240t0004g0132 a0161c0250t0002g0133 a0162c0239t0003g0215 a0163c0252t0001g0199 a0164c0193t0004g0188 a0165c0184t0001g0225 a0166c0191t0003g0189 a0167c0192t0005g0197 a0168c0183t0004g0211 a0169c0188t0003g0214 a0170c0190t0026g0219 a0171c0189t0021g0196 a0172c0186t0001g0210 a0173c0187t0024g0187 a0174c0185t0001g0224 a0175c0242t0001g0129 a0176c0216t0003g0158 a0177c0246t0001g0231 a0178c0243t0002g0195 a0179c0264t0005g0146 a0180c0269t0004g0151 a0181c0265t0003g0147 a0182c0273t0017g0149 a0183c0211t0012g0232 a0184c0276t0013g0154 a0185c0245t0005g0127 a0186c0247t0002g0167 a0187c0248t0001g0230 a0188c0209t0002g0164 a0189c0206t0004g0174 a0190c0205t0001g0229 a0191c0201t0003g0131 a0192c0200t0012g0134 a0193c0196t0023g0169 a0194c0204t0002g0165 a0195c0213t0003g0142 a0196c0215t0003g0202 a0197c0194t0001g0159 a0198c0207t0002g0166 a0199c0197t0004g0176 a0200c0195t0002g0168 a0201c0208t0006g0177 a0202c0241t0001g0194 a0203c0231t0005g0192 a0204c0236t0002g0213 a0205c0225t0002g0204 a0206c0230t0010g0203 a0207c0235t0001g0206 a0208c0232t0003g0208 a0209c0234t0005g0212 a0210c0228t0003g0191 a0211c0233t0002g0205 a0212c0227t0003g0135 a0213c0238t0003g0193 a0214c0220t0001g0200 a0215c0221t0001g0233 a0216c0219t0001g0223 a0217c0274t0003g0184 a0218c0275t0002g0183 a0219c0249t0002g0217 a0220c0255t0002g0160 a0221c0256t0007g0221 a0222c0258t0007g0228 a0223c0259t0007g0220 a0224c0261t0007g0227 a0225c0257t0007g0222 a0226c0260t0016g0226	107	298	0.3591	0	c.100 others(3): Show c.100G>T	p.Glu others(3): Show p.Glu34*	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	1/82	307/14343	100/13551	34/4516		chr7	TogoVar
DNHD1_chr11_6492280_6577020	6563801	C C	T T	stop_gained stop_gained	HIGH	HG01243.hp2 HG01884.hp2 HG02965.hp2 HG01243.hp2 HG01884.hp2 HG02965.hp2	a0046 a0056 a0046 a0056	a0046c0037 a0056c0058 a0046c0037 a0056c0058	a0046c0037t0001 a0056c0058t0001 a0046c0037t0001 a0056c0058t0001	a0046c0037t0001g0089 a0046c0037t0001g0090 a0056c0058t0001g0206 a0046c0037t0001g0089 a0046c0037t0001g0090 a0056c0058t0001g0206	3	342	0.0088	0	c.996 others(4): Show c.9961C>T	p.Arg others(5): Show p.Arg3321*	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	31/43	10541/14876	9961/14262	3321/4753		chr11	TogoVar
DOCK6_chr19_11194295_11267524	11215472	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02486.hp2 HG02622.hp1 HG02809.hp2 others(10): Show HG02486.hp2 HG02622.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp2 NA18522.hp1	a0001 a0034 a0001 a0034	a0001c0011 a0001c0014 a0001c0040 others(2): Show a0001c0011 a0001c0014 a0001c0040 a0001c0041 a0034c0024	a0001c0011t0001 a0001c0014t0001 a0001c0014t0002 others(3): Show a0001c0011t0001 a0001c0014t0001 a0001c0014t0002 a0001c0040t0001 a0001c0041t0001 a0034c0024t0001	a0001c0011t0001g0289 a0001c0011t0001g0290 a0001c0011t0001g0291 others(10): Show a0001c0011t0001g0289 a0001c0011t0001g0290 a0001c0011t0001g0291 a0001c0011t0001g0292 a0001c0011t0001g0294 a0001c0011t0001g0295 a0001c0011t0001g0296 a0001c0014t0001g0241 a0001c0014t0002g0309 a0001c0014t0002g0311 a0001c0040t0001g0052 a0001c0041t0001g0051 a0034c0024t0001g0004	13	314	0.0414	1	c.402 others(7): Show c.4022-2dupA		DOCK6	ENSG00000130158.14	transcript	ENST00000294618.12	protein_coding	31/47					chr19	TogoVar
DPP7_chr9_137105546_137119733	137110665	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01243.hp2 HG01891.hp1 HG02055.hp2 others(12): Show HG01243.hp2 HG01891.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02280.hp1 HG02486.hp2 HG02615.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG06807.hp1	a0000 a0000	a0000c0005 a0000c0021 a0000c0023 a0000c0005 a0000c0021 a0000c0023	a0000c0005t0001 a0000c0021t0001 a0000c0023t0001 a0000c0005t0001 a0000c0021t0001 a0000c0023t0001	a0000c0005t0001g0010 a0000c0005t0001g0081 a0000c0005t0001g0082 others(6): Show a0000c0005t0001g0010 a0000c0005t0001g0081 a0000c0005t0001g0082 a0000c0005t0001g0096 a0000c0005t0001g0102 a0000c0005t0001g0107 a0000c0005t0001g0108 a0000c0021t0001g0103 a0000c0023t0001g0106	15	454	0.0330	1	c.146 others(5): Show c.1461dupG	p.Pro others(5): Show p.Pro488fs	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	13/13	1481/1601	1461/1479	487/492		chr9	TogoVar
DSCC1_chr8_119828976_119860894	119838260	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG02965.hp2 HG02965.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0201 a0005c0005t0003g0201	1	378	0.0027	0	c.107 others(4): Show c.1072C>T	p.Gln others(4): Show p.Gln358*	DSCC1	ENSG00000136982.6	transcript	ENST00000313655.5	protein_coding	8/9	1171/2198	1072/1182	358/393		chr8	TogoVar
DSP_chr6_7536671_7591714	7541915	C C	CA CA	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02717.hp2 HG02965.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA19001.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0012 a0015 a0016 a0017 a0021 a0026 a0028 a0034	a0001c0007 a0001c0011 a0001c0014 others(22): Show a0001c0007 a0001c0011 a0001c0014 a0001c0041 a0001c0044 a0002c0003 a0002c0018 a0002c0030 a0003c0009 a0003c0013 a0003c0028 a0003c0038 a0003c0040 a0005c0008 a0006c0042 a0008c0019 a0009c0029 a0012c0032 a0015c0031 a0016c0039 a0017c0047 a0021c0046 a0026c0045 a0028c0043 a0034c0037	a0001c0007t0001 a0001c0011t0001 a0001c0014t0001 others(24): Show a0001c0007t0001 a0001c0011t0001 a0001c0014t0001 a0001c0041t0001 a0001c0044t0001 a0002c0003t0001 a0002c0018t0001 a0002c0030t0001 a0003c0009t0002 a0003c0009t0003 a0003c0013t0002 a0003c0013t0003 a0003c0028t0002 a0003c0038t0002 a0003c0040t0002 a0005c0008t0001 a0006c0042t0001 a0008c0019t0001 a0009c0029t0001 a0012c0032t0003 a0015c0031t0002 a0016c0039t0001 a0017c0047t0001 a0021c0046t0001 a0026c0045t0002 a0028c0043t0001 a0034c0037t0002	a0001c0007t0001g0046 a0001c0007t0001g0049 a0001c0007t0001g0162 others(104): Show a0001c0007t0001g0046 a0001c0007t0001g0049 a0001c0007t0001g0162 a0001c0007t0001g0180 a0001c0007t0001g0217 a0001c0007t0001g0259 a0001c0007t0001g0263 a0001c0007t0001g0267 a0001c0007t0001g0270 a0001c0007t0001g0287 a0001c0007t0001g0314 a0001c0007t0001g0316 a0001c0011t0001g0161 a0001c0011t0001g0236 a0001c0011t0001g0250 a0001c0011t0001g0262 a0001c0011t0001g0264 a0001c0011t0001g0272 a0001c0011t0001g0307 a0001c0011t0001g0313 a0001c0014t0001g0249 a0001c0014t0001g0256 a0001c0014t0001g0258 a0001c0014t0001g0274 a0001c0014t0001g0276 a0001c0041t0001g0319 a0001c0044t0001g0045 a0002c0003t0001g0001 a0002c0003t0001g0004 a0002c0003t0001g0006 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0130 a0002c0003t0001g0170 a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0260 a0002c0003t0001g0268 a0002c0003t0001g0271 a0002c0003t0001g0284 a0002c0003t0001g0286 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0312 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0321 a0002c0003t0001g0330 a0002c0003t0001g0371 a0002c0003t0001g0375 a0002c0003t0001g0376 a0002c0018t0001g0261 a0002c0018t0001g0266 a0002c0018t0001g0289 a0002c0018t0001g0306 a0002c0030t0001g0073 a0002c0030t0001g0298 a0003c0009t0002g0044 a0003c0009t0002g0169 a0003c0009t0002g0252 a0003c0009t0002g0279 a0003c0009t0002g0281 a0003c0009t0002g0283 a0003c0009t0002g0302 a0003c0009t0002g0308 a0003c0009t0003g0294 a0003c0013t0002g0156 a0003c0013t0002g0229 a0003c0013t0002g0269 a0003c0013t0002g0290 a0003c0013t0002g0334 a0003c0013t0003g0265 a0003c0028t0002g0257 a0003c0028t0002g0275 a0003c0038t0002g0070 a0003c0040t0002g0301 a0005c0008t0001g0014 a0005c0008t0001g0038 a0005c0008t0001g0293 a0005c0008t0001g0295 a0005c0008t0001g0296 a0005c0008t0001g0299 a0005c0008t0001g0303 a0005c0008t0001g0304 a0005c0008t0001g0305 a0005c0008t0001g0310 a0006c0042t0001g0251 a0008c0019t0001g0278 a0008c0019t0001g0297 a0008c0019t0001g0309 a0008c0019t0001g0377 a0009c0029t0001g0226 a0009c0029t0001g0227 a0012c0032t0003g0247 a0012c0032t0003g0288 a0015c0031t0002g0280 a0015c0031t0002g0282 a0016c0039t0001g0323 a0017c0047t0001g0030 a0021c0046t0001g0300 a0026c0045t0002g0359 a0028c0043t0001g0273 a0034c0037t0002g0315	112	396	0.2828	1	c.1du others(2): Show c.1dupA	p.Met others(3): Show p.Met1fs	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/24	247/9697	2/8616	1/2871	INFO_REALIGN_3_PRIME	chr6	TogoVar
DZANK1_chr20_18378367_18472030	18412855	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0018	a0001c0001 a0001c0007 a0001c0015 others(16): Show a0001c0001 a0001c0007 a0001c0015 a0002c0004 a0002c0005 a0002c0022 a0003c0016 a0004c0027 a0005c0008 a0006c0009 a0007c0011 a0009c0019 a0010c0029 a0011c0021 a0012c0026 a0013c0035 a0015c0031 a0016c0023 a0018c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0007t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0008 a0001c0007t0012 a0001c0007t0013 a0001c0015t0004 a0001c0015t0010 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0015 a0002c0005t0001 a0002c0005t0003 a0002c0022t0001 a0003c0016t0002 a0004c0027t0008 a0005c0008t0001 a0005c0008t0003 a0006c0009t0001 a0006c0009t0005 a0007c0011t0007 a0009c0019t0002 a0010c0029t0005 a0011c0021t0002 a0012c0026t0003 a0013c0035t0011 a0015c0031t0003 a0016c0023t0001 a0018c0030t0005	a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0333 others(196): Show a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0333 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0261 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0003g0246 a0001c0001t0009g0024 a0001c0001t0009g0179 a0001c0001t0009g0332 a0001c0001t0010g0277 a0001c0001t0011g0275 a0001c0007t0002g0011 a0001c0007t0002g0139 a0001c0007t0002g0140 a0001c0007t0002g0228 a0001c0007t0002g0229 a0001c0007t0003g0342 a0001c0007t0004g0022 a0001c0007t0004g0117 a0001c0007t0004g0201 a0001c0007t0004g0234 a0001c0007t0004g0249 a0001c0007t0004g0256 a0001c0007t0004g0257 a0001c0007t0004g0258 a0001c0007t0008g0243 a0001c0007t0008g0244 a0001c0007t0012g0111 a0001c0007t0013g0238 a0001c0015t0004g0259 a0001c0015t0004g0260 a0001c0015t0010g0178 a0001c0015t0010g0245 a0002c0004t0001g0034 a0002c0004t0001g0041 a0002c0004t0001g0043 a0002c0004t0001g0044 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0054 a0002c0004t0001g0072 a0002c0004t0001g0082 a0002c0004t0001g0096 a0002c0004t0001g0248 a0002c0004t0003g0005 a0002c0004t0003g0006 a0002c0004t0003g0033 a0002c0004t0003g0035 a0002c0004t0003g0036 a0002c0004t0003g0040 a0002c0004t0003g0042 a0002c0004t0003g0045 a0002c0004t0003g0048 a0002c0004t0003g0051 a0002c0004t0003g0052 a0002c0004t0003g0055 a0002c0004t0003g0056 a0002c0004t0003g0057 a0002c0004t0003g0061 a0002c0004t0003g0066 a0002c0004t0003g0071 a0002c0004t0003g0073 a0002c0004t0003g0074 a0002c0004t0003g0075 a0002c0004t0003g0079 a0002c0004t0003g0080 a0002c0004t0003g0081 a0002c0004t0003g0086 a0002c0004t0003g0087 a0002c0004t0003g0088 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0095 a0002c0004t0003g0295 a0002c0004t0008g0286 a0002c0004t0014g0284 a0002c0004t0015g0039 a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0015 a0002c0005t0001g0115 a0002c0005t0001g0116 a0002c0005t0001g0120 a0002c0005t0001g0121 a0002c0005t0001g0123 a0002c0005t0001g0124 a0002c0005t0001g0125 a0002c0005t0001g0126 a0002c0005t0001g0127 a0002c0005t0001g0128 a0002c0005t0001g0129 a0002c0005t0001g0132 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0135 a0002c0005t0001g0151 a0002c0005t0001g0154 a0002c0005t0001g0180 a0002c0005t0001g0181 a0002c0005t0001g0188 a0002c0005t0001g0190 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0240 a0002c0005t0003g0122 a0002c0005t0003g0144 a0002c0005t0003g0230 a0002c0005t0003g0239 a0002c0022t0001g0130 a0003c0016t0002g0206 a0003c0016t0002g0271 a0004c0027t0008g0235 a0005c0008t0001g0002 a0005c0008t0001g0231 a0005c0008t0001g0263 a0005c0008t0001g0264 a0005c0008t0001g0265 a0005c0008t0001g0266 a0005c0008t0003g0207 a0006c0009t0001g0146 a0006c0009t0005g0012 a0006c0009t0005g0145 a0006c0009t0005g0147 a0006c0009t0005g0237 a0006c0009t0005g0273 a0007c0011t0007g0004 a0007c0011t0007g0028 a0007c0011t0007g0029 a0007c0011t0007g0030 a0009c0019t0002g0304 a0009c0019t0002g0329 a0010c0029t0005g0136 a0011c0021t0002g0182 a0012c0026t0003g0187 a0013c0035t0011g0097 a0015c0031t0003g0247 a0016c0023t0001g0131 a0018c0030t0005g0148	213	374	0.5695	0	c.130 others(6): Show c.1300-2G>A		DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	12/20					chr20	TogoVar
EFCAB13_chr17_47318955_47446312	47370436	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(39): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG01346.hp2 HG01515.hp2 HG02056.hp2 HG02148.hp1 HG02965.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18961.hp2 NA18964.hp1 NA18969.hp2 NA18975.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA21309.hp1	a0003 a0007 a0009 others(1): Show a0003 a0007 a0009 a0013	a0003c0004 a0003c0008 a0003c0016 others(3): Show a0003c0004 a0003c0008 a0003c0016 a0007c0009 a0009c0012 a0013c0017	a0003c0004t0001 a0003c0004t0002 a0003c0008t0003 others(5): Show a0003c0004t0001 a0003c0004t0002 a0003c0008t0003 a0003c0016t0002 a0007c0009t0001 a0007c0009t0002 a0009c0012t0002 a0013c0017t0001	a0003c0004t0001g0140 a0003c0004t0002g0109 a0003c0004t0002g0214 others(38): Show a0003c0004t0001g0140 a0003c0004t0002g0109 a0003c0004t0002g0214 a0003c0004t0002g0217 a0003c0004t0002g0219 a0003c0004t0002g0220 a0003c0004t0002g0222 a0003c0004t0002g0224 a0003c0004t0002g0225 a0003c0004t0002g0226 a0003c0004t0002g0227 a0003c0004t0002g0229 a0003c0004t0002g0230 a0003c0004t0002g0231 a0003c0004t0002g0232 a0003c0004t0002g0233 a0003c0004t0002g0235 a0003c0004t0002g0236 a0003c0004t0002g0237 a0003c0004t0002g0239 a0003c0004t0002g0241 a0003c0004t0002g0243 a0003c0004t0002g0244 a0003c0004t0002g0245 a0003c0004t0002g0247 a0003c0004t0002g0249 a0003c0004t0002g0250 a0003c0004t0002g0251 a0003c0004t0002g0253 a0003c0008t0003g0276 a0003c0016t0002g0223 a0007c0009t0001g0221 a0007c0009t0002g0218 a0007c0009t0002g0234 a0007c0009t0002g0246 a0007c0009t0002g0248 a0007c0009t0002g0252 a0009c0012t0002g0004 a0009c0012t0002g0216 a0009c0012t0002g0242 a0013c0017t0001g0205	42	356	0.1180	0	c.806 others(5): Show c.806-1G>A		EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	10/24					chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29941799	G G	A A	start_lost start_lost	HIGH	HG00741.hp1 HG01243.hp2 HG01433.hp1 others(20): Show HG00741.hp1 HG01243.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 NA18906.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0006 a0003c0013 others(1): Show a0003c0003 a0003c0006 a0003c0013 a0003c0014	a0003c0003t0002 a0003c0006t0002 a0003c0013t0002 others(1): Show a0003c0003t0002 a0003c0006t0002 a0003c0013t0002 a0003c0014t0002	a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 others(20): Show a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0139 a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0215 a0003c0003t0002g0216 a0003c0006t0002g0003 a0003c0006t0002g0004 a0003c0006t0002g0005 a0003c0013t0002g0217 a0003c0014t0002g0006	23	248	0.0927	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	1/23	166/5103	3/4512	1/1503		chr17	TogoVar
EPB41L4A_chr5_112157619_112424277	112165119	C C	CTAAAA CTAAAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(219): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0021 others(26): Show a0001c0001 a0001c0002 a0001c0021 a0001c0026 a0002c0003 a0002c0007 a0002c0008 a0002c0018 a0003c0004 a0003c0005 a0004c0010 a0004c0011 a0004c0014 a0005c0006 a0005c0015 a0006c0012 a0006c0016 a0006c0023 a0007c0013 a0007c0017 a0008c0009 a0009c0029 a0010c0025 a0012c0024 a0013c0020 a0014c0028 a0015c0027 a0016c0019 a0017c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0015 a0001c0002t0019 a0001c0002t0022 a0001c0002t0025 a0001c0002t0031 a0001c0002t0032 a0001c0002t0036 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0049 a0001c0002t0050 a0001c0021t0002 a0001c0026t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0019 a0002c0003t0026 a0002c0003t0044 a0002c0007t0002 a0002c0007t0021 a0002c0007t0030 a0002c0007t0034 a0002c0008t0001 a0002c0008t0016 a0002c0008t0021 a0002c0018t0035 a0003c0004t0004 a0003c0004t0023 a0003c0004t0048 a0003c0005t0009 a0003c0005t0013 a0004c0010t0011 a0004c0011t0001 a0004c0014t0011 a0005c0006t0004 a0005c0015t0004 a0006c0012t0002 a0006c0012t0015 a0006c0016t0001 a0006c0023t0002 a0007c0013t0007 a0007c0017t0002 a0008c0009t0010 a0008c0009t0023 a0009c0029t0010 a0010c0025t0001 a0012c0024t0033 a0013c0020t0047 a0014c0028t0003 a0015c0027t0010 a0016c0019t0010 a0017c0030t0001	a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0103 others(217): Show a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0003g0219 a0001c0001t0005g0113 a0001c0001t0005g0116 a0001c0001t0005g0123 a0001c0001t0005g0139 a0001c0001t0005g0157 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0184 a0001c0001t0005g0199 a0001c0001t0006g0013 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0007g0126 a0001c0001t0007g0141 a0001c0001t0007g0145 a0001c0001t0007g0147 a0001c0001t0007g0197 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0024 a0001c0001t0014g0182 a0001c0001t0016g0044 a0001c0001t0017g0004 a0001c0001t0017g0048 a0001c0001t0018g0021 a0001c0001t0018g0051 a0001c0001t0020g0002 a0001c0001t0022g0209 a0001c0001t0024g0111 a0001c0001t0024g0129 a0001c0001t0027g0064 a0001c0001t0028g0014 a0001c0001t0029g0005 a0001c0001t0037g0135 a0001c0001t0038g0169 a0001c0001t0040g0137 a0001c0001t0045g0200 a0001c0001t0046g0104 a0001c0001t0051g0226 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0105 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0143 a0001c0002t0001g0162 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0185 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0201 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0212 a0001c0002t0001g0216 a0001c0002t0002g0012 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0003g0097 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0108 a0001c0002t0003g0115 a0001c0002t0003g0118 a0001c0002t0003g0140 a0001c0002t0003g0146 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0198 a0001c0002t0003g0213 a0001c0002t0005g0142 a0001c0002t0005g0150 a0001c0002t0005g0222 a0001c0002t0014g0098 a0001c0002t0014g0124 a0001c0002t0015g0046 a0001c0002t0019g0075 a0001c0002t0022g0109 a0001c0002t0025g0223 a0001c0002t0025g0224 a0001c0002t0031g0059 a0001c0002t0032g0042 a0001c0002t0036g0125 a0001c0002t0039g0173 a0001c0002t0041g0082 a0001c0002t0042g0194 a0001c0002t0043g0165 a0001c0002t0049g0094 a0001c0002t0050g0225 a0001c0021t0002g0016 a0001c0026t0001g0203 a0002c0003t0001g0155 a0002c0003t0002g0006 a0002c0003t0003g0096 a0002c0003t0006g0038 a0002c0003t0006g0054 a0002c0003t0006g0055 a0002c0003t0006g0056 a0002c0003t0012g0095 a0002c0003t0012g0215 a0002c0003t0012g0218 a0002c0003t0012g0221 a0002c0003t0019g0073 a0002c0003t0026g0003 a0002c0003t0044g0220 a0002c0007t0002g0052 a0002c0007t0021g0076 a0002c0007t0030g0053 a0002c0007t0034g0079 a0002c0008t0001g0132 a0002c0008t0001g0214 a0002c0008t0016g0057 a0002c0008t0021g0078 a0002c0018t0035g0077 a0003c0004t0004g0087 a0003c0004t0004g0090 a0003c0004t0004g0167 a0003c0004t0004g0217 a0003c0004t0023g0151 a0003c0004t0048g0085 a0003c0005t0009g0025 a0003c0005t0009g0026 a0003c0005t0009g0030 a0003c0005t0009g0033 a0003c0005t0009g0034 a0003c0005t0009g0035 a0003c0005t0013g0027 a0003c0005t0013g0028 a0003c0005t0013g0032 a0004c0010t0011g0071 a0004c0010t0011g0072 a0004c0010t0011g0080 a0004c0011t0001g0152 a0004c0011t0001g0153 a0004c0014t0011g0069 a0004c0014t0011g0070 a0005c0006t0004g0088 a0005c0006t0004g0128 a0005c0006t0004g0207 a0005c0006t0004g0208 a0005c0006t0004g0210 a0005c0006t0004g0211 a0005c0015t0004g0161 a0006c0012t0002g0047 a0006c0012t0015g0045 a0006c0016t0001g0130 a0006c0023t0002g0015 a0007c0013t0007g0106 a0007c0013t0007g0107 a0007c0017t0002g0029 a0008c0009t0010g0049 a0008c0009t0010g0050 a0008c0009t0023g0202 a0009c0029t0010g0037 a0010c0025t0001g0138 a0012c0024t0033g0074 a0013c0020t0047g0204 a0014c0028t0003g0163 a0015c0027t0010g0036 a0016c0019t0010g0011 a0017c0030t0001g0188	222	228	0.9737	5	c.193 others(18): Show c.1933-6_1933-2dupTTTTA		EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	22/22					chr5	TogoVar
ERRFI1_chr1_8006727_8031309	8015693	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02145.hp1 HG02965.hp1 HG03209.hp2 others(5): Show HG02145.hp1 HG02965.hp1 HG03209.hp2 HG03516.hp1 HG03579.hp1 NA19030.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0031 a0001c0003t0001g0051 a0001c0003t0001g0014 a0001c0003t0001g0031 a0001c0003t0001g0051	8	402	0.0199	0	c.-73 others(5): Show c.-73-1G>A		ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding	1/3					chr1	TogoVar
FAM166A_chr9_137238599_137252751	137245305	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0005 others(22): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0001c0022 a0001c0024 a0002c0003 a0003c0004 a0003c0019 a0004c0007 a0005c0009 a0006c0008 a0007c0025 a0008c0023 a0009c0020 a0010c0015 a0011c0013 a0012c0011	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(22): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0021t0001 a0001c0022t0001 a0001c0024t0001 a0002c0003t0001 a0003c0004t0001 a0003c0019t0001 a0004c0007t0001 a0005c0009t0001 a0006c0008t0001 a0007c0025t0001 a0008c0023t0001 a0009c0020t0001 a0010c0015t0001 a0011c0013t0001 a0012c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(68): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0036 a0001c0002t0001g0052 a0001c0002t0001g0070 a0001c0005t0001g0013 a0001c0005t0001g0061 a0001c0006t0001g0018 a0001c0006t0001g0050 a0001c0010t0001g0026 a0001c0012t0001g0058 a0001c0014t0001g0034 a0001c0016t0001g0037 a0001c0017t0001g0063 a0001c0018t0001g0039 a0001c0021t0001g0044 a0001c0022t0001g0049 a0001c0024t0001g0069 a0002c0003t0001g0003 a0002c0003t0001g0059 a0003c0004t0001g0005 a0003c0004t0001g0064 a0003c0019t0001g0040 a0004c0007t0001g0021 a0004c0007t0001g0071 a0005c0009t0001g0025 a0006c0008t0001g0038 a0006c0008t0001g0068 a0007c0025t0001g0045 a0008c0023t0001g0066 a0009c0020t0001g0041 a0010c0015t0001g0033 a0011c0013t0001g0031 a0012c0011t0001g0057	418	418	1.0000	0	c.522 others(5): Show c.522+2C>T		FAM166A	ENSG00000188163.8	transcript	ENST00000344774.6	protein_coding	3/6					chr9	TogoVar
FAM47E_chr4_76246721_76288783	76283379	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0184 a0004c0004t0001g0184	1	392	0.0026	0	c.110 others(6): Show c.1105-2A>G		FAM47E	ENSG00000189157.14	transcript	ENST00000424749.7	protein_coding	7/7					chr4	TogoVar
FAN1_chr15_30898915_30948108	30937260	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02559.hp2 HG02922.hp2 HG02965.hp2 others(2): Show HG02559.hp2 HG02922.hp2 HG02965.hp2 HG03225.hp2 HG03453.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0003 a0009c0016t0003 a0001c0001t0003 a0009c0016t0003	a0001c0001t0003g0006 a0009c0016t0003g0060 a0001c0001t0003g0006 a0009c0016t0003g0060	5	303	0.0165	0	c.3+ others(4): Show c.3+1G>A		FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	14/14					chr15	TogoVar
FANCM_chr14_45130930_45205890	45185207	TCTTA TCTTA	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0022 a0027	a0002c0003 a0002c0006 a0002c0007 others(22): Show a0002c0003 a0002c0006 a0002c0007 a0002c0008 a0002c0031 a0002c0032 a0003c0002 a0004c0005 a0005c0004 a0006c0010 a0007c0009 a0008c0011 a0008c0025 a0009c0016 a0010c0015 a0011c0014 a0012c0012 a0014c0034 a0015c0030 a0016c0029 a0017c0033 a0018c0024 a0019c0026 a0022c0019 a0027c0027	a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 others(24): Show a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 a0002c0007t0003 a0002c0008t0004 a0002c0008t0007 a0002c0031t0006 a0002c0032t0001 a0003c0002t0001 a0004c0005t0001 a0005c0004t0001 a0006c0010t0001 a0007c0009t0001 a0008c0011t0002 a0008c0025t0002 a0009c0016t0005 a0010c0015t0001 a0011c0014t0001 a0012c0012t0002 a0014c0034t0002 a0015c0030t0001 a0016c0029t0001 a0017c0033t0001 a0018c0024t0001 a0019c0026t0008 a0022c0019t0001 a0027c0027t0001	a0002c0003t0001g0167 a0002c0003t0001g0169 a0002c0003t0001g0170 others(107): Show a0002c0003t0001g0167 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0172 a0002c0003t0002g0142 a0002c0003t0002g0153 a0002c0003t0002g0155 a0002c0003t0002g0156 a0002c0003t0002g0162 a0002c0003t0002g0165 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0006t0002g0212 a0002c0006t0002g0213 a0002c0006t0002g0214 a0002c0006t0002g0215 a0002c0006t0002g0216 a0002c0006t0002g0217 a0002c0006t0002g0218 a0002c0006t0002g0219 a0002c0006t0002g0220 a0002c0007t0003g0146 a0002c0007t0003g0147 a0002c0007t0003g0148 a0002c0007t0003g0149 a0002c0007t0003g0166 a0002c0007t0003g0171 a0002c0008t0004g0143 a0002c0008t0004g0150 a0002c0008t0004g0151 a0002c0008t0004g0152 a0002c0008t0004g0173 a0002c0008t0007g0163 a0002c0031t0006g0160 a0002c0032t0001g0209 a0003c0002t0001g0002 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0187 a0003c0002t0001g0188 a0003c0002t0001g0189 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0199 a0003c0002t0001g0200 a0003c0002t0001g0201 a0003c0002t0001g0202 a0003c0002t0001g0206 a0004c0005t0001g0154 a0004c0005t0001g0157 a0004c0005t0001g0158 a0004c0005t0001g0159 a0004c0005t0001g0161 a0004c0005t0001g0164 a0004c0005t0001g0210 a0004c0005t0001g0211 a0005c0004t0001g0010 a0005c0004t0001g0017 a0005c0004t0001g0023 a0005c0004t0001g0024 a0005c0004t0001g0099 a0005c0004t0001g0108 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0006c0010t0001g0137 a0006c0010t0001g0138 a0006c0010t0001g0203 a0006c0010t0001g0204 a0006c0010t0001g0205 a0007c0009t0001g0012 a0007c0009t0001g0013 a0007c0009t0001g0014 a0007c0009t0001g0015 a0007c0009t0001g0016 a0008c0011t0002g0051 a0008c0011t0002g0052 a0008c0011t0002g0053 a0008c0025t0002g0136 a0009c0016t0005g0207 a0009c0016t0005g0208 a0010c0015t0001g0197 a0010c0015t0001g0198 a0011c0014t0001g0140 a0011c0014t0001g0141 a0012c0012t0002g0006 a0014c0034t0002g0139 a0015c0030t0001g0168 a0016c0029t0001g0226 a0017c0033t0001g0190 a0018c0024t0001g0144 a0019c0026t0008g0145 a0022c0019t0001g0019 a0027c0027t0001g0109	114	238	0.4790	-4	c.451 others(17): Show c.4516-5_4516-2delCTTA		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	17/22				INFO_REALIGN_3_PRIME	chr14	TogoVar
FER_chr5_108742897_109201841	108867763	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01884.hp2 HG02559.hp2 HG02572.hp2 others(4): Show HG01884.hp2 HG02559.hp2 HG02572.hp2 HG02886.hp2 HG02965.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0002 a0001c0001t0009 a0001c0004t0006 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0004t0006 a0001c0004t0023 a0001c0008t0012	a0001c0001t0002g0115 a0001c0001t0009g0082 a0001c0004t0006g0078 others(4): Show a0001c0001t0002g0115 a0001c0001t0009g0082 a0001c0004t0006g0078 a0001c0004t0006g0079 a0001c0004t0006g0080 a0001c0004t0023g0083 a0001c0008t0012g0081	7	138	0.0507	1	c.482 others(6): Show c.482-3dupC		FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	5/19				INFO_REALIGN_3_PRIME	chr5	TogoVar
FIG4_chr6_109686296_109830426	109732621	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(13): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0009 a0002c0012 a0002c0014 a0002c0015 a0003c0005 a0003c0007 a0003c0017 a0003c0018 a0004c0006 a0004c0008 a0005c0019 a0006c0013	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0004t0001 a0002c0004t0004 a0002c0009t0002 a0002c0012t0001 a0002c0014t0002 a0002c0015t0001 a0003c0005t0001 a0003c0007t0001 a0003c0007t0002 a0003c0017t0001 a0003c0018t0001 a0004c0006t0001 a0004c0008t0002 a0005c0019t0006 a0006c0013t0002	a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0122 others(274): Show a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0198 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0255 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0279 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0002g0351 a0001c0001t0002g0353 a0001c0001t0003g0001 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0014 a0001c0003t0001g0097 a0001c0003t0001g0145 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0188 a0001c0003t0001g0243 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0319 a0001c0003t0001g0368 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0218 a0002c0002t0001g0358 a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0139 a0002c0002t0002g0150 a0002c0002t0002g0164 a0002c0002t0002g0211 a0002c0002t0002g0225 a0002c0002t0002g0298 a0002c0002t0002g0362 a0002c0002t0002g0363 a0002c0002t0003g0209 a0002c0002t0004g0006 a0002c0002t0004g0123 a0002c0002t0004g0186 a0002c0002t0004g0196 a0002c0002t0004g0197 a0002c0002t0004g0200 a0002c0002t0004g0201 a0002c0002t0004g0202 a0002c0002t0004g0203 a0002c0002t0004g0204 a0002c0002t0004g0207 a0002c0002t0004g0208 a0002c0002t0004g0228 a0002c0002t0004g0229 a0002c0002t0004g0238 a0002c0002t0004g0294 a0002c0002t0004g0305 a0002c0002t0004g0352 a0002c0002t0004g0354 a0002c0002t0004g0355 a0002c0002t0004g0356 a0002c0002t0004g0357 a0002c0002t0004g0359 a0002c0002t0004g0360 a0002c0002t0005g0125 a0002c0002t0005g0126 a0002c0002t0005g0127 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0140 a0002c0004t0001g0160 a0002c0004t0001g0174 a0002c0004t0001g0178 a0002c0004t0001g0189 a0002c0004t0001g0199 a0002c0004t0001g0205 a0002c0004t0001g0212 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0219 a0002c0004t0001g0220 a0002c0004t0001g0231 a0002c0004t0001g0232 a0002c0004t0001g0242 a0002c0004t0001g0248 a0002c0004t0001g0256 a0002c0004t0001g0295 a0002c0004t0004g0230 a0002c0009t0002g0157 a0002c0009t0002g0158 a0002c0009t0002g0159 a0002c0012t0001g0137 a0002c0014t0002g0011 a0002c0015t0001g0181 a0003c0005t0001g0002 a0003c0005t0001g0068 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0311 a0003c0005t0001g0312 a0003c0005t0001g0316 a0003c0005t0001g0317 a0003c0005t0001g0320 a0003c0005t0001g0325 a0003c0005t0001g0326 a0003c0005t0001g0327 a0003c0005t0001g0329 a0003c0005t0001g0330 a0003c0005t0001g0331 a0003c0005t0001g0332 a0003c0005t0001g0333 a0003c0005t0001g0334 a0003c0005t0001g0335 a0003c0005t0001g0336 a0003c0005t0001g0337 a0003c0005t0001g0338 a0003c0005t0001g0340 a0003c0005t0001g0341 a0003c0005t0001g0342 a0003c0005t0001g0343 a0003c0005t0001g0345 a0003c0005t0001g0346 a0003c0005t0001g0349 a0003c0005t0001g0350 a0003c0007t0001g0313 a0003c0007t0001g0321 a0003c0007t0001g0328 a0003c0007t0001g0347 a0003c0007t0002g0348 a0003c0017t0001g0314 a0003c0018t0001g0318 a0004c0006t0001g0306 a0004c0006t0001g0307 a0004c0006t0001g0308 a0004c0006t0001g0324 a0004c0006t0001g0339 a0004c0006t0001g0344 a0004c0008t0002g0309 a0004c0008t0002g0310 a0004c0008t0002g0315 a0004c0008t0002g0322 a0004c0008t0002g0323 a0005c0019t0006g0016 a0006c0013t0002g0222	279	370	0.7541	1	c.447 others(6): Show c.447-3dupT		FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	4/22				INFO_REALIGN_3_PRIME	chr6	TogoVar
FLG_chr1_152297165_152330239	152304352	G G	A A	stop_gained stop_gained	HIGH	HG01243.hp1 HG01433.hp2 HG01884.hp2 others(55): Show HG01243.hp1 HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18947.hp1 NA18953.hp1 NA18957.hp2 NA18961.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18991.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19057.hp2 NA19081.hp1 NA19082.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0006 a0010 a0012 others(22): Show a0006 a0010 a0012 a0019 a0020 a0021 a0027 a0033 a0035 a0058 a0062 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0074 a0075 a0113 a0114 a0115 a0161	a0006c0006 a0006c0136 a0010c0010 others(25): Show a0006c0006 a0006c0136 a0010c0010 a0012c0012 a0012c0063 a0012c0064 a0019c0027 a0020c0026 a0021c0025 a0027c0032 a0033c0053 a0035c0052 a0058c0066 a0062c0122 a0064c0133 a0065c0127 a0066c0132 a0067c0128 a0068c0130 a0069c0129 a0070c0131 a0071c0126 a0074c0124 a0075c0123 a0113c0179 a0114c0177 a0115c0178 a0161c0065	a0006c0006t0001 a0006c0136t0001 a0010c0010t0001 others(25): Show a0006c0006t0001 a0006c0136t0001 a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 a0012c0064t0002 a0019c0027t0003 a0020c0026t0001 a0021c0025t0002 a0027c0032t0001 a0033c0053t0001 a0035c0052t0003 a0058c0066t0001 a0062c0122t0001 a0064c0133t0003 a0065c0127t0001 a0066c0132t0001 a0067c0128t0001 a0068c0130t0001 a0069c0129t0001 a0070c0131t0001 a0071c0126t0001 a0074c0124t0002 a0075c0123t0002 a0113c0179t0001 a0114c0177t0001 a0115c0178t0001 a0161c0065t0002	a0006c0006t0001g0003 a0006c0136t0001g0124 a0010c0010t0001g0026 others(32): Show a0006c0006t0001g0003 a0006c0136t0001g0124 a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 a0012c0012t0002g0025 a0012c0012t0002g0148 a0012c0063t0002g0149 a0012c0064t0002g0150 a0019c0027t0003g0140 a0019c0027t0003g0145 a0019c0027t0003g0147 a0020c0026t0001g0062 a0020c0026t0001g0217 a0021c0025t0002g0043 a0021c0025t0002g0155 a0027c0032t0001g0022 a0033c0053t0001g0042 a0035c0052t0003g0041 a0058c0066t0001g0123 a0062c0122t0001g0152 a0064c0133t0003g0146 a0065c0127t0001g0223 a0066c0132t0001g0226 a0067c0128t0001g0218 a0068c0130t0001g0153 a0069c0129t0001g0224 a0070c0131t0001g0225 a0071c0126t0001g0222 a0074c0124t0002g0156 a0075c0123t0002g0154 a0113c0179t0001g0126 a0114c0177t0001g0125 a0115c0178t0001g0122 a0161c0065t0002g0151	58	426	0.1362	0	c.105 others(5): Show c.10534C>T	p.Gln others(5): Show p.Gln3512*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	10606/12793	10534/12186	3512/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152304887	C C	T T	stop_gained stop_gained	HIGH	HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0010 a0012 a0019 others(16): Show a0010 a0012 a0019 a0020 a0021 a0033 a0035 a0062 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0074 a0075 a0161	a0010c0010 a0012c0012 a0012c0063 others(18): Show a0010c0010 a0012c0012 a0012c0063 a0012c0064 a0019c0027 a0020c0026 a0021c0025 a0033c0053 a0035c0052 a0062c0122 a0064c0133 a0065c0127 a0066c0132 a0067c0128 a0068c0130 a0069c0129 a0070c0131 a0071c0126 a0074c0124 a0075c0123 a0161c0065	a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 others(18): Show a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 a0012c0064t0002 a0019c0027t0003 a0020c0026t0001 a0021c0025t0002 a0033c0053t0001 a0035c0052t0003 a0062c0122t0001 a0064c0133t0003 a0065c0127t0001 a0066c0132t0001 a0067c0128t0001 a0068c0130t0001 a0069c0129t0001 a0070c0131t0001 a0071c0126t0001 a0074c0124t0002 a0075c0123t0002 a0161c0065t0002	a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 others(25): Show a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 a0012c0012t0002g0025 a0012c0012t0002g0148 a0012c0063t0002g0149 a0012c0064t0002g0150 a0019c0027t0003g0140 a0019c0027t0003g0145 a0019c0027t0003g0147 a0020c0026t0001g0062 a0020c0026t0001g0217 a0021c0025t0002g0043 a0021c0025t0002g0155 a0033c0053t0001g0042 a0035c0052t0003g0041 a0062c0122t0001g0152 a0064c0133t0003g0146 a0065c0127t0001g0223 a0066c0132t0001g0226 a0067c0128t0001g0218 a0068c0130t0001g0153 a0069c0129t0001g0224 a0070c0131t0001g0225 a0071c0126t0001g0222 a0074c0124t0002g0156 a0075c0123t0002g0154 a0161c0065t0002g0151	37	426	0.0869	0	c.999 others(4): Show c.9999G>A	p.Trp others(5): Show p.Trp3333*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	10071/12793	9999/12186	3333/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305571	G G	C C	stop_gained stop_gained	HIGH	HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0010 a0012 a0019 others(16): Show a0010 a0012 a0019 a0020 a0021 a0033 a0035 a0062 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0074 a0075 a0161	a0010c0010 a0012c0012 a0012c0063 others(18): Show a0010c0010 a0012c0012 a0012c0063 a0012c0064 a0019c0027 a0020c0026 a0021c0025 a0033c0053 a0035c0052 a0062c0122 a0064c0133 a0065c0127 a0066c0132 a0067c0128 a0068c0130 a0069c0129 a0070c0131 a0071c0126 a0074c0124 a0075c0123 a0161c0065	a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 others(18): Show a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 a0012c0064t0002 a0019c0027t0003 a0020c0026t0001 a0021c0025t0002 a0033c0053t0001 a0035c0052t0003 a0062c0122t0001 a0064c0133t0003 a0065c0127t0001 a0066c0132t0001 a0067c0128t0001 a0068c0130t0001 a0069c0129t0001 a0070c0131t0001 a0071c0126t0001 a0074c0124t0002 a0075c0123t0002 a0161c0065t0002	a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 others(25): Show a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 a0012c0012t0002g0025 a0012c0012t0002g0148 a0012c0063t0002g0149 a0012c0064t0002g0150 a0019c0027t0003g0140 a0019c0027t0003g0145 a0019c0027t0003g0147 a0020c0026t0001g0062 a0020c0026t0001g0217 a0021c0025t0002g0043 a0021c0025t0002g0155 a0033c0053t0001g0042 a0035c0052t0003g0041 a0062c0122t0001g0152 a0064c0133t0003g0146 a0065c0127t0001g0223 a0066c0132t0001g0226 a0067c0128t0001g0218 a0068c0130t0001g0153 a0069c0129t0001g0224 a0070c0131t0001g0225 a0071c0126t0001g0222 a0074c0124t0002g0156 a0075c0123t0002g0154 a0161c0065t0002g0151	37	426	0.0869	0	c.931 others(4): Show c.9315C>G	p.Tyr others(5): Show p.Tyr3105*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9387/12793	9315/12186	3105/4061		chr1	TogoVar
FLG_chr1_152297165_152330239	152305861	G G	A A	stop_gained stop_gained	HIGH	HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show HG01433.hp2 HG01884.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0010 a0012 a0019 others(16): Show a0010 a0012 a0019 a0020 a0021 a0033 a0035 a0062 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0074 a0075 a0161	a0010c0010 a0012c0012 a0012c0063 others(18): Show a0010c0010 a0012c0012 a0012c0063 a0012c0064 a0019c0027 a0020c0026 a0021c0025 a0033c0053 a0035c0052 a0062c0122 a0064c0133 a0065c0127 a0066c0132 a0067c0128 a0068c0130 a0069c0129 a0070c0131 a0071c0126 a0074c0124 a0075c0123 a0161c0065	a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 others(18): Show a0010c0010t0001 a0012c0012t0002 a0012c0063t0002 a0012c0064t0002 a0019c0027t0003 a0020c0026t0001 a0021c0025t0002 a0033c0053t0001 a0035c0052t0003 a0062c0122t0001 a0064c0133t0003 a0065c0127t0001 a0066c0132t0001 a0067c0128t0001 a0068c0130t0001 a0069c0129t0001 a0070c0131t0001 a0071c0126t0001 a0074c0124t0002 a0075c0123t0002 a0161c0065t0002	a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 others(25): Show a0010c0010t0001g0026 a0010c0010t0001g0063 a0010c0010t0001g0138 a0012c0012t0002g0025 a0012c0012t0002g0148 a0012c0063t0002g0149 a0012c0064t0002g0150 a0019c0027t0003g0140 a0019c0027t0003g0145 a0019c0027t0003g0147 a0020c0026t0001g0062 a0020c0026t0001g0217 a0021c0025t0002g0043 a0021c0025t0002g0155 a0033c0053t0001g0042 a0035c0052t0003g0041 a0062c0122t0001g0152 a0064c0133t0003g0146 a0065c0127t0001g0223 a0066c0132t0001g0226 a0067c0128t0001g0218 a0068c0130t0001g0153 a0069c0129t0001g0224 a0070c0131t0001g0225 a0071c0126t0001g0222 a0074c0124t0002g0156 a0075c0123t0002g0154 a0161c0065t0002g0151	37	426	0.0869	0	c.902 others(4): Show c.9025C>T	p.Arg others(5): Show p.Arg3009*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	9097/12793	9025/12186	3009/4061		chr1	TogoVar
FMO2_chr1_171180300_171217686	171196663	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG01123.hp1 HG01192.hp1 HG01243.hp1 others(21): Show HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02135.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp2 NA20129.hp2 NA20300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0011 a0006c0006t0016 a0006c0006t0006 a0006c0006t0011 a0006c0006t0016	a0006c0006t0006g0007 a0006c0006t0006g0036 a0006c0006t0006g0112 others(13): Show a0006c0006t0006g0007 a0006c0006t0006g0036 a0006c0006t0006g0112 a0006c0006t0006g0113 a0006c0006t0006g0114 a0006c0006t0006g0115 a0006c0006t0006g0116 a0006c0006t0006g0117 a0006c0006t0006g0118 a0006c0006t0006g0120 a0006c0006t0006g0121 a0006c0006t0006g0122 a0006c0006t0006g0123 a0006c0006t0011g0007 a0006c0006t0011g0119 a0006c0006t0016g0023	24	366	0.0656	-1	c.337 others(4): Show c.337delG	p.Val others(5): Show p.Val113fs	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	4/9	403/5215	337/1608	113/535		chr1	TogoVar
FMO2_chr1_171180300_171217686	171208951	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0015 a0002c0002 others(14): Show a0001c0001 a0001c0015 a0002c0002 a0002c0019 a0003c0003 a0003c0016 a0004c0005 a0004c0008 a0004c0009 a0005c0004 a0006c0006 a0009c0011 a0010c0012 a0011c0014 a0012c0013 a0014c0021 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0015t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0014 a0003c0016t0002 a0004c0005t0003 a0004c0008t0002 a0004c0008t0023 a0004c0009t0004 a0005c0004t0003 a0005c0004t0008 a0006c0006t0006 a0006c0006t0011 a0006c0006t0016 a0009c0011t0002 a0010c0012t0002 a0011c0014t0006 a0012c0013t0001 a0014c0021t0002 a0015c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(195): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0002g0090 a0001c0001t0007g0003 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0019 a0001c0001t0007g0057 a0001c0001t0007g0070 a0001c0001t0010g0006 a0001c0001t0010g0030 a0001c0001t0013g0010 a0001c0001t0013g0050 a0001c0001t0013g0065 a0001c0001t0018g0083 a0001c0001t0019g0087 a0001c0001t0020g0089 a0001c0001t0022g0067 a0001c0015t0003g0051 a0001c0015t0003g0072 a0001c0015t0003g0084 a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0011 a0002c0002t0004g0012 a0002c0002t0004g0024 a0002c0002t0004g0028 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0041 a0002c0002t0004g0042 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0138 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0144 a0002c0002t0004g0146 a0002c0002t0004g0149 a0002c0002t0004g0151 a0002c0002t0004g0152 a0002c0002t0004g0173 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0012 a0002c0002t0005g0124 a0002c0002t0005g0125 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0140 a0002c0002t0005g0150 a0002c0002t0025g0024 a0002c0019t0004g0004 a0003c0003t0001g0180 a0003c0003t0002g0001 a0003c0003t0002g0018 a0003c0003t0002g0029 a0003c0003t0002g0045 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0185 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0014g0001 a0003c0003t0014g0045 a0003c0016t0002g0029 a0003c0016t0002g0184 a0004c0005t0003g0005 a0004c0005t0003g0025 a0004c0005t0003g0037 a0004c0005t0003g0040 a0004c0005t0003g0126 a0004c0005t0003g0127 a0004c0005t0003g0132 a0004c0005t0003g0135 a0004c0005t0003g0141 a0004c0005t0003g0145 a0004c0005t0003g0148 a0004c0008t0002g0035 a0004c0008t0002g0107 a0004c0008t0002g0109 a0004c0008t0002g0111 a0004c0008t0002g0147 a0004c0008t0002g0165 a0004c0008t0023g0046 a0004c0009t0004g0016 a0004c0009t0004g0108 a0004c0009t0004g0110 a0004c0009t0004g0174 a0004c0009t0004g0175 a0005c0004t0003g0013 a0005c0004t0003g0017 a0005c0004t0003g0043 a0005c0004t0003g0044 a0005c0004t0003g0153 a0005c0004t0003g0154 a0005c0004t0003g0155 a0005c0004t0003g0156 a0005c0004t0003g0159 a0005c0004t0003g0160 a0005c0004t0003g0161 a0005c0004t0003g0162 a0005c0004t0003g0163 a0005c0004t0003g0164 a0005c0004t0003g0166 a0005c0004t0003g0167 a0005c0004t0003g0169 a0005c0004t0003g0170 a0005c0004t0008g0026 a0005c0004t0008g0027 a0005c0004t0008g0157 a0005c0004t0008g0158 a0005c0004t0008g0168 a0006c0006t0006g0007 a0006c0006t0006g0036 a0006c0006t0006g0112 a0006c0006t0006g0113 a0006c0006t0006g0114 a0006c0006t0006g0115 a0006c0006t0006g0116 a0006c0006t0006g0117 a0006c0006t0006g0118 a0006c0006t0006g0120 a0006c0006t0006g0121 a0006c0006t0006g0122 a0006c0006t0006g0123 a0006c0006t0011g0007 a0006c0006t0011g0119 a0006c0006t0016g0023 a0009c0011t0002g0021 a0009c0011t0002g0106 a0010c0012t0002g0022 a0011c0014t0006g0091 a0011c0014t0006g0095 a0011c0014t0006g0096 a0012c0013t0001g0032 a0012c0013t0001g0064 a0014c0021t0002g0001 a0015c0020t0001g0186	349	366	0.9536	0	c.141 others(4): Show c.1414C>T	p.Gln others(4): Show p.Gln472*	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1480/5215	1414/1608	472/535		chr1	TogoVar
FOLR3_chr11_72130725_72144892	72139110	CTA CTA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0018 a0001c0019 a0003c0004 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0012t0001 a0001c0018t0001 a0001c0019t0001 a0003c0004t0001 a0005c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0002g0001 a0001c0003t0001g0001 a0001c0003t0001g0009 a0001c0003t0001g0018 a0001c0003t0001g0022 a0001c0005t0001g0004 a0001c0010t0001g0002 a0001c0012t0001g0002 a0001c0018t0001g0001 a0001c0019t0001g0001 a0003c0004t0001g0001 a0005c0014t0001g0001	336	384	0.8750	-2	c.320 others(9): Show c.320_321delAT	p.Tyr others(5): Show p.Tyr107fs	FOLR3	ENSG00000110203.10	transcript	ENST00000611028.3	protein_coding	3/5	370/849	320/738	107/245	INFO_REALIGN_3_PRIME	chr11	TogoVar
FOXD4L1_chr2_113493665_113506150	113500127	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19062.hp2 NA19063.hp1 NA19089.hp1 NA19090.hp1 NA21309.hp2	a0000 a0000	a0000c0002 a0000c0005 a0000c0009 others(3): Show a0000c0002 a0000c0005 a0000c0009 a0000c0010 a0000c0017 a0000c0018	a0000c0002t0002 a0000c0002t0014 a0000c0002t0016 others(5): Show a0000c0002t0002 a0000c0002t0014 a0000c0002t0016 a0000c0005t0002 a0000c0009t0012 a0000c0010t0002 a0000c0017t0013 a0000c0018t0002	a0000c0002t0002g0000 a0000c0002t0014g0000 a0000c0002t0016g0000 others(5): Show a0000c0002t0002g0000 a0000c0002t0014g0000 a0000c0002t0016g0000 a0000c0005t0002g0000 a0000c0009t0012g0000 a0000c0010t0002g0000 a0000c0017t0013g0000 a0000c0018t0002g0000	99	326	0.3037	-1	c.876 others(4): Show c.876delC	p.Gly others(5): Show p.Gly293fs	FOXD4L1	ENSG00000184492.7	transcript	ENST00000306507.7	protein_coding	1/1	1468/2486	876/1227	292/408	INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXD4L1_chr2_113493665_113506150	113500482	A A	G G	stop_lost stop_lost	HIGH	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19062.hp2 NA19063.hp1 NA19089.hp1 NA19090.hp1 NA21309.hp2	a0000 a0000	a0000c0002 a0000c0005 a0000c0009 others(4): Show a0000c0002 a0000c0005 a0000c0009 a0000c0010 a0000c0011 a0000c0017 a0000c0018	a0000c0002t0002 a0000c0002t0014 a0000c0002t0016 others(6): Show a0000c0002t0002 a0000c0002t0014 a0000c0002t0016 a0000c0005t0002 a0000c0009t0012 a0000c0010t0002 a0000c0011t0002 a0000c0017t0013 a0000c0018t0002	a0000c0002t0002g0000 a0000c0002t0014g0000 a0000c0002t0016g0000 others(6): Show a0000c0002t0002g0000 a0000c0002t0014g0000 a0000c0002t0016g0000 a0000c0005t0002g0000 a0000c0009t0012g0000 a0000c0010t0002g0000 a0000c0011t0002g0000 a0000c0017t0013g0000 a0000c0018t0002g0000	101	326	0.3098	0	c.122 others(4): Show c.1226A>G	p.Ter others(11): Show p.Ter409Trpext*?	FOXD4L1	ENSG00000184492.7	transcript	ENST00000306507.7	protein_coding	1/1	1818/2486	1226/1227	409/408		chr2	TogoVar
FOXD4_chr9_111231_123417	116800	C C	G G	stop_lost stop_lost	HIGH	HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20805.hp1	a0000 a0000	a0000c0002 a0000c0006 a0000c0016 others(5): Show a0000c0002 a0000c0006 a0000c0016 a0000c0027 a0000c0038 a0000c0039 a0000c0040 a0000c0043	a0000c0002t0001 a0000c0002t0002 a0000c0002t0009 others(9): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0009 a0000c0002t0011 a0000c0006t0001 a0000c0006t0002 a0000c0016t0002 a0000c0027t0002 a0000c0038t0003 a0000c0039t0015 a0000c0040t0002 a0000c0043t0001	a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0009g0000 others(9): Show a0000c0002t0001g0000 a0000c0002t0002g0000 a0000c0002t0009g0000 a0000c0002t0011g0000 a0000c0006t0001g0000 a0000c0006t0002g0000 a0000c0016t0002g0000 a0000c0027t0002g0000 a0000c0038t0003g0000 a0000c0039t0015g0000 a0000c0040t0002g0000 a0000c0043t0001g0000	108	452	0.2389	0	c.132 others(4): Show c.1320G>C	p.Ter others(11): Show p.Ter440Tyrext*?	FOXD4	ENSG00000170122.6	transcript	ENST00000382500.4	protein_coding	1/1	1618/2187	1320/1320	440/439		chr9	TogoVar
GABRR3_chr3_97980102_98040315	98007903	A A	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00280.hp2 HG00323.hp2 HG00642.hp1 others(43): Show HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 NA18906.hp2 NA18942.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0020 a0002c0002t0026 a0002c0007t0002	a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 others(40): Show a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0042 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0003g0029 a0002c0002t0003g0044 a0002c0002t0003g0051 a0002c0002t0003g0057 a0002c0002t0003g0060 a0002c0002t0003g0166 a0002c0002t0006g0039 a0002c0002t0006g0059 a0002c0002t0007g0033 a0002c0002t0007g0035 a0002c0002t0007g0168 a0002c0002t0008g0226 a0002c0002t0008g0269 a0002c0002t0008g0272 a0002c0002t0008g0273 a0002c0002t0013g0037 a0002c0002t0013g0167 a0002c0002t0014g0046 a0002c0002t0014g0054 a0002c0002t0015g0330 a0002c0002t0018g0021 a0002c0002t0020g0061 a0002c0002t0026g0341 a0002c0007t0002g0065	46	382	0.1204	0	c.615 others(3): Show c.615T>A	p.Tyr others(4): Show p.Tyr205*	GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding	7/10	743/3113	615/1404	205/467		chr3	TogoVar
GDPD4_chr11_77211558_77306686	77243743	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02486.hp2 HG02683.hp2 HG02698.hp2 HG02965.hp2 HG03490.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18957.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp1	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0010	a0003c0003 a0004c0004 a0006c0006 others(1): Show a0003c0003 a0004c0004 a0006c0006 a0010c0010	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0007 a0003c0003t0009 a0003c0003t0012 a0004c0004t0006 a0006c0006t0006 a0010c0010t0003	a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 others(79): Show a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 a0003c0003t0002g0001 a0003c0003t0002g0002 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0069 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0342 a0003c0003t0003g0009 a0003c0003t0007g0047 a0003c0003t0007g0048 a0003c0003t0007g0081 a0003c0003t0009g0036 a0003c0003t0009g0061 a0003c0003t0012g0070 a0004c0004t0006g0204 a0004c0004t0006g0205 a0004c0004t0006g0208 a0006c0006t0006g0206 a0006c0006t0006g0207 a0010c0010t0003g0086	84	350	0.2400	1	c.119 others(5): Show c.1191dupT	p.Ile others(5): Show p.Ile398fs	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	13/17	1526/2617	1191/1563	397/520		chr11	TogoVar
GGACT_chr13_100525180_100593789	100588740	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01891.hp2 HG02055.hp2 HG02451.hp2 others(9): Show HG01891.hp2 HG02055.hp2 HG02451.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 others(9): Show a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034	12	376	0.0319	0	c.-18 others(6): Show c.-184+1G>A		GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	1/2					chr13	TogoVar
GML_chr8_142829801_142851851	142841226	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01109.hp2 HG02965.hp1 HG03209.hp1 HG01109.hp2 HG02965.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0004t0002 a0001c0004t0003 a0001c0001t0009 a0001c0004t0002 a0001c0004t0003	a0001c0001t0009g0121 a0001c0004t0002g0120 a0001c0004t0003g0119 a0001c0001t0009g0121 a0001c0004t0002g0120 a0001c0004t0003g0119	3	422	0.0071	0	c.181 others(5): Show c.181+1G>A		GML	ENSG00000104499.7	transcript	ENST00000220940.2	protein_coding	3/3					chr8	TogoVar
GNRH2_chr20_3038622_3050747	3045699	A A	AGCCCC AGCCCC	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02738.hp2 HG02818.hp1 HG02965.hp2 HG03209.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA20300.hp2 NA20905.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0002 a0000c0002t0001 a0000c0002t0002	a0000c0002t0001g0002 a0000c0002t0001g0005 a0000c0002t0002g0002 others(1): Show a0000c0002t0001g0002 a0000c0002t0001g0005 a0000c0002t0002g0002 a0000c0002t0002g0020	101	446	0.2265	5	c.319 others(12): Show c.319_323dupCCGCC	p.Ser others(5): Show p.Ser109fs	GNRH2	ENSG00000125787.11	transcript	ENST00000359100.6	protein_coding	4/4	375/404	324/342	108/113	INFO_REALIGN_3_PRIME	chr20	TogoVar

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