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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Select column to sort.

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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
DHDH_chr19_48928699_48949969	48942517	C C	T T	stop_gained stop_gained	HIGH	HG00621.hp2 HG00738.hp2 HG01261.hp1 others(26): Show HG00621.hp2 HG00738.hp2 HG01261.hp1 HG02148.hp2 HG02258.hp1 HG02602.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp1 NA18957.hp1 NA18960.hp1 NA18964.hp1 NA18972.hp2 NA18975.hp2 NA18981.hp2 NA18990.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp2	a0004 a0011 a0015 others(1): Show a0004 a0011 a0015 a0017	a0004c0004 a0011c0020 a0015c0024 others(1): Show a0004c0004 a0011c0020 a0015c0024 a0017c0029	a0004c0004t0001 a0011c0020t0001 a0015c0024t0001 others(1): Show a0004c0004t0001 a0011c0020t0001 a0015c0024t0001 a0017c0029t0001	a0004c0004t0001g0008 a0004c0004t0001g0011 a0004c0004t0001g0020 others(13): Show a0004c0004t0001g0008 a0004c0004t0001g0011 a0004c0004t0001g0020 a0004c0004t0001g0030 a0004c0004t0001g0059 a0004c0004t0001g0060 a0004c0004t0001g0061 a0004c0004t0001g0063 a0004c0004t0001g0064 a0004c0004t0001g0065 a0004c0004t0001g0067 a0004c0004t0001g0069 a0004c0004t0001g0174 a0011c0020t0001g0042 a0015c0024t0001g0066 a0017c0029t0001g0062	29	436	0.0665	0	c.697 others(3): Show c.697C>T	p.Gln others(4): Show p.Gln233*	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	5/7	720/1064	697/1005	233/334		chr19	TogoVar
DHRS11_chr17_36586879_36605804	36600156	CCA CCA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0003t0001g0001	111	385	0.2883	-2	c.742 others(13): Show c.742-3_742-2delCA		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr17	TogoVar
DMBT1_chr10_122555754_122648736	122601633	CTTAACCT others(12170): Show CTTAACCTCTGGGTGCAGCTATCTTCCATCATGACTGCATGCCCTGGTGA CTTCTGCATTCGTATTGAAACTTGACTACTTTGCCCACTGCCCTGATTGT TGTCCATGCCTTATCCTTGACCTCATATTTGAGATGGATGAAGCGTTCTT GTGTTCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATG GAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCTCCTGG GGCACCGTGTGTGATGACTACTGGGACACCAATGATGCCAATGTGGTTTG CAGGCAGCTGGGCTGTGGCTGGGCCATGTCAGCCCCAGGAAATGCCCGGT TTGGCCAGGGTTCAGGACCCATTGTCCTGGATGATGTGCGCTGCTCAGGA CATGAGTCCTATCTGTGGAGCTGCCCCCACAATGGCTGGCTCTCCCACAA CTGTGGCCATCATGAAGACGCTGGTGTCATCTGCTCAGGTGGGCCTCCAA GACCTTCGGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAAGAAAATCCT AATTACATTATGATCTCCTCTGAACTCACAGATTCTTCTATGTTTCTTGT ATTTATGCAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATGAATTTTGCT ACAGCGGTTGGTGTTCATGTGGTCACTTAGGACAGGGGACCAAAGTCAAA CAACAACCCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGGAAGAGGCAG AAGAGAAAACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCTGCTGAGTAG CAGTGGTTGAGGGTATCATGGACATAGGACAGACAGCGGGGCAGAGGAGG GATCCTCTCACTGTGAGGAACTCTGAACCAAAGATGCTTGTCTGGAAGTG GGTTCTCAGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAGGCTCAAGGG TTAGGAGTGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGGTTGTGTGAG GTTGGAGTCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGAGCACTGCCT TGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACTGGCCAGGCT TGGCCTCATTATTGCCTGTGGTCGGGGCTTGAAGATCACACAAGGGATTT TGGCTGGAGTGGCTTCCTCAGCCTTGCTGACTCAGGAACACTTAAGATGT GCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGCGCAGACACA ATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGCCTCAACCCC TTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCCCTCCCTGTG TGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATTTCTTTCCCT CCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGATCTGACCTTC TCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCAGCCCAGGTA AGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTGCCCAATCAC CCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGGATACTGTGG GGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACATGGGTCCTTT TCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGGAAGGCATAC AAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACATCACATGTCA GCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGTTTTTATTGG TGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGGTCACAGAGA TCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATGGAGGCAGGG CAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAAGTTTCGGGC ACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTTGAGAGCAGA CAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCATCCTAATAA GCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCTTATCTGTAA GCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTA GGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAGGAATTCA GCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTGGCTCTGTTC TGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCTTGTTCCCTG AACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGATTTCATATTG TTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCCTGAGGTGAC ATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTAAAGTAAAGA CAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGATAAGTGTCCA TGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAG AAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCATGAAATCTT CAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCTGTTTGGGGT CCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACACATAGGATT CAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCATGAAACAGT TTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAGTGGCCCCAT GTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATATAGTTTCGA AAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTCAGGGCAGGC TCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATTATGATGGAC CACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAGGGAAAGGGA TAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGATTCCTGATT GTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGCCAGTGTCTG AGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCATCAGCAGAT GTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAAGATACCCCA GGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGACCTTTGTTC ATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATGGGAAGCAAG TGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCCCCTCCCAGA GAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCTGTCTTTTCC TTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCATCAACAGCAG GTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCTGGACATATT TTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCCTCTTTTTTC ACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGAGGAGCCAGT GCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGTCTCCCATGG AATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTGCTCAGGATG AGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCTGGCCCTCAG GCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCAGTCTCTGCA CTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAGAAGGCAGAG AGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGGGTCTGGGCT TGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAGAGTGGGGAA TGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATGCTTACCCAT AGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACTTTTTCCACT ATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCATGACTGCATG CCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTTGCCCACTGC CCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGAGATGGATGA AGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGC TGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGA GGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAATGATGCCAA TGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAGCCCCAGGAA ATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGATGATGTGCGC TGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAATGGCTGGCT CTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCTGCTCAGGTG GGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAA GAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGATTCTTCTAT GTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATG AATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGACAGGGGACC AAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGG AAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCT GCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAGACAGCGGGG CAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAAGATGCTTGT CTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAG GCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGG TTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGA GCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACT GGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGAAGATCACAC AAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACTCAGGAACAC CTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGC GCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGC CTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCC CTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATT TCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGAT CTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCA GCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTG CCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGG ATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACAT GGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGG AAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACAT CACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGT TTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGG TCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATG GAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAA GTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTT GAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCA TCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCT TATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGC CTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAA AGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTG GCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCT TGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGAT TTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCC TGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTA AAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGAT AAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGAC AGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCA TGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCT GTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACA CATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCA TGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAG TGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATA TAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTC AGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATT ATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAG GGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGA TTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGC CAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCA TCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAA GATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGA CCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATG GGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCC CCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCT GTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCAT CAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCT GGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCC TCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGA GGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGT CTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTG CTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCT GGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCA GTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAG AAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGG GTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAG AGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATG CTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACT TTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCAT GACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTT GCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGA GATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGG CCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTC CTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAA TGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAG CCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGAT GATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAA TGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCT GCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTT GCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGA TTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGA ATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGA CAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGC AGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCAT TTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAG ACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAA GATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTG GAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATC AGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAA CGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCC CATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGA AGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACT CAGGAACACCTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGG TTACCCTGCGCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGAC AGGATCTGCCTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATG GCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGAC TCGCCCATTTCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAAC ATTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGC CGACACCCAGCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTT CTCTTTCTGCCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTC TCTGTGTGGATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGT ATTTCACATGGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGA AATAAAGGGAAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGG GGGAGACATCACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAA CCAGCAAGTTTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATA GGGTGTGGGTCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACA AGGTAAATGGAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATT GCTAATGAAGTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAG ACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCA ATTTCCTCATCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTAT TTCATCCCTTATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCAT TTCAGAGGCCTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTT GCTGAGAAAAGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAG AGAAATGTGGCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGT TATCTCCCTTGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAG TGCCCAGATTTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATC ACAGGGTCCTGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATT AAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGG GGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGC AGTAAAGACAGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAAT AAATGTCCATGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCC GGTCCCTCTGTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTT GAAAACACACATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCT CAGCTTTCATGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGG TTCAGGAAGTGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGG ACTCACATATAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAA GGCATTGTCAGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAAT TCTGAGATTATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTG CTTGGGCAGGGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCA GAAACCTGATTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACAT TTTATCTGCCAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCA GTCCATGCATCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAAC AGATAGAAAGATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCT CCAGCAGGACCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGA AGACACATGGGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGG TGGATTCCCCCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAG TCTAATTCTGTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCT CACATGCATCAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTC ACTGTCTCTGGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAG GTGGGCCCCTCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGG AATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCT GGTGACTGTCTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTC ATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGAC CTCGTTCCTGGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTG AAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCA AATTGCCAGAAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAAT TCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTG TGTACCCAGAGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGG TCATACATGCTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAG GGCATCACTTTTTCCACTATGACAAAGT	C C	exon_loss_variant exon_loss_variant	HIGH	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01433.hp1 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA19007.hp2 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0003 a0004 a0007 others(32): Show a0003 a0004 a0007 a0010 a0015 a0017 a0018 a0019 a0020 a0022 a0023 a0026 a0027 a0028 a0040 a0044 a0045 a0047 a0048 a0052 a0056 a0057 a0059 a0063 a0064 a0066 a0069 a0073 a0079 a0082 a0085 a0088 a0091 a0092 a0093	a0003c0005 a0003c0017 a0003c0086 others(38): Show a0003c0005 a0003c0017 a0003c0086 a0004c0003 a0004c0082 a0007c0006 a0007c0109 a0010c0008 a0015c0014 a0015c0044 a0017c0040 a0017c0115 a0018c0020 a0019c0026 a0020c0025 a0022c0022 a0023c0021 a0026c0041 a0027c0037 a0028c0036 a0040c0093 a0044c0118 a0045c0111 a0047c0110 a0048c0108 a0052c0090 a0056c0116 a0057c0114 a0059c0087 a0063c0080 a0064c0081 a0066c0053 a0069c0056 a0073c0054 a0079c0055 a0082c0078 a0085c0083 a0088c0049 a0091c0045 a0092c0043 a0093c0042	a0003c0005t0001 a0003c0017t0001 a0003c0086t0002 others(44): Show a0003c0005t0001 a0003c0017t0001 a0003c0086t0002 a0004c0003t0001 a0004c0003t0003 a0004c0003t0004 a0004c0082t0003 a0007c0006t0002 a0007c0109t0001 a0010c0008t0001 a0010c0008t0004 a0015c0014t0001 a0015c0044t0002 a0017c0040t0001 a0017c0040t0009 a0017c0115t0001 a0018c0020t0002 a0019c0026t0004 a0020c0025t0001 a0020c0025t0003 a0022c0022t0002 a0023c0021t0003 a0023c0021t0005 a0026c0041t0001 a0027c0037t0001 a0028c0036t0001 a0040c0093t0001 a0044c0118t0001 a0045c0111t0001 a0047c0110t0002 a0048c0108t0003 a0052c0090t0002 a0056c0116t0001 a0057c0114t0003 a0059c0087t0001 a0063c0080t0001 a0064c0081t0001 a0066c0053t0001 a0069c0056t0007 a0073c0054t0001 a0079c0055t0001 a0082c0078t0001 a0085c0083t0003 a0088c0049t0001 a0091c0045t0001 a0092c0043t0001 a0093c0042t0001	a0003c0005t0001g0091 a0003c0005t0001g0092 a0003c0005t0001g0094 others(90): Show a0003c0005t0001g0091 a0003c0005t0001g0092 a0003c0005t0001g0094 a0003c0005t0001g0095 a0003c0005t0001g0096 a0003c0005t0001g0097 a0003c0005t0001g0106 a0003c0005t0001g0115 a0003c0005t0001g0153 a0003c0005t0001g0154 a0003c0005t0001g0261 a0003c0017t0001g0098 a0003c0017t0001g0099 a0003c0017t0001g0100 a0003c0017t0001g0101 a0003c0086t0002g0093 a0004c0003t0001g0123 a0004c0003t0001g0148 a0004c0003t0003g0009 a0004c0003t0003g0012 a0004c0003t0003g0134 a0004c0003t0003g0137 a0004c0003t0003g0138 a0004c0003t0003g0141 a0004c0003t0003g0142 a0004c0003t0003g0144 a0004c0003t0003g0149 a0004c0003t0003g0152 a0004c0003t0004g0228 a0004c0082t0003g0133 a0007c0006t0002g0006 a0007c0006t0002g0058 a0007c0006t0002g0062 a0007c0006t0002g0065 a0007c0006t0002g0066 a0007c0006t0002g0067 a0007c0006t0002g0080 a0007c0006t0002g0147 a0007c0109t0001g0063 a0010c0008t0001g0202 a0010c0008t0001g0243 a0010c0008t0001g0244 a0010c0008t0001g0245 a0010c0008t0001g0246 a0010c0008t0001g0249 a0010c0008t0004g0242 a0015c0014t0001g0087 a0015c0014t0001g0089 a0015c0014t0001g0112 a0015c0014t0001g0113 a0015c0044t0002g0088 a0017c0040t0001g0044 a0017c0040t0009g0039 a0017c0115t0001g0040 a0018c0020t0002g0051 a0018c0020t0002g0052 a0018c0020t0002g0053 a0019c0026t0004g0103 a0019c0026t0004g0104 a0019c0026t0004g0105 a0020c0025t0001g0014 a0020c0025t0003g0214 a0022c0022t0002g0211 a0022c0022t0002g0212 a0022c0022t0002g0235 a0023c0021t0003g0121 a0023c0021t0005g0010 a0026c0041t0001g0038 a0026c0041t0001g0042 a0027c0037t0001g0008 a0028c0036t0001g0120 a0028c0036t0001g0209 a0040c0093t0001g0048 a0044c0118t0001g0016 a0045c0111t0001g0061 a0047c0110t0002g0015 a0048c0108t0003g0035 a0052c0090t0002g0037 a0056c0116t0001g0041 a0057c0114t0003g0043 a0059c0087t0001g0170 a0063c0080t0001g0164 a0064c0081t0001g0241 a0066c0053t0001g0229 a0069c0056t0007g0247 a0073c0054t0001g0213 a0079c0055t0001g0117 a0082c0078t0001g0157 a0085c0083t0003g0143 a0088c0049t0001g0136 a0091c0045t0001g0114 a0092c0043t0001g0090 a0093c0042t0001g0110	99	282	0.3511	-12177	c.350 others(9): Show c.3506_4666del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	30/56	3523/7984			INFO_REALIGN_3_PRIME	chr10	TogoVar
DMBT1_chr10_122555754_122648736	122602824	TTAAGATG others(12170): Show TTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGC GCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGC CTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCC CTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATT TCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGAT CTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCA GCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTG CCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGG ATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACAT GGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGG AAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACAT CACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGT TTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGG TCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATG GAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAA GTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTT GAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCA TCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCT TATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGC CTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAA AGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTG GCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCT TGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGAT TTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCC TGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTA AAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGAT AAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGAC AGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCA TGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCT GTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACA CATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCA TGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAG TGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATA TAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTC AGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATT ATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAG GGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGA TTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGC CAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCA TCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAA GATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGA CCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATG GGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCC CCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCT GTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCAT CAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCT GGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCC TCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGA GGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGT CTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTG CTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCT GGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCA GTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAG AAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGG GTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAG AGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATG CTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACT TTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCAT GACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTT GCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGA GATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGG CCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTC CTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAA TGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAG CCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGAT GATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAA TGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCT GCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTT GCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGA TTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGA ATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGA CAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGC AGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCAT TTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAG ACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAA GATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTG GAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATC AGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAA CGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCC CATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGA AGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACT CAGGAACACCTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGG TTACCCTGCGCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGAC AGGATCTGCCTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATG GCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGAC TCGCCCATTTCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAAC ATTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGC CGACACCCAGCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTT CTCTTTCTGCCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTC TCTGTGTGGATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGT ATTTCACATGGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGA AATAAAGGGAAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGG GGGAGACATCACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAA CCAGCAAGTTTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATA GGGTGTGGGTCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACA AGGTAAATGGAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATT GCTAATGAAGTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAG ACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCA ATTTCCTCATCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTAT TTCATCCCTTATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCAT TTCAGAGGCCTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTT GCTGAGAAAAGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAG AGAAATGTGGCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGT TATCTCCCTTGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAG TGCCCAGATTTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATC ACAGGGTCCTGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATT AAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGG GGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGC AGTAAAGACAGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAAT AAATGTCCATGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCC GGTCCCTCTGTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTT GAAAACACACATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCT CAGCTTTCATGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGG TTCAGGAAGTGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGG ACTCACATATAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAA GGCATTGTCAGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAAT TCTGAGATTATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTG CTTGGGCAGGGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCA GAAACCTGATTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACAT TTTATCTGCCAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCA GTCCATGCATCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAAC AGATAGAAAGATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCT CCAGCAGGACCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGA AGACACATGGGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGG TGGATTCCCCCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAG TCTAATTCTGTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCT CACATGCATCAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTC ACTGTCTCTGGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAG GTGGGCCCCTCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGG AATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCT GGTGACTGTCTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTC ATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGAC CTCGTTCCTGGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTG AAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCA AATTGCCAGAAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAAT TCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTG TGTACCCAGAGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGG TCATACATGCTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAG GGCATCACTTTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATC TTCCATCATGACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTT GACTACTTTGCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCT CATATTTGAGATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAAT CCAGTTTGGCCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGA GTGGAGGTCCTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTG GGACACCAATGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGG CCACGTCAGCCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATT GTCCTGGATGATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTG CCCCCACAATGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTG GTGTCATCTGCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGG TTGGAGTTTGCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGA ACTCACAGATTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCC CTGCTAAGAATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGT CACTTAGGACAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCT TCCTGAGGCAGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCA GGGCTCCATTTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGAC ATAGGACAGACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTC TGAACCAAAGATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGA GGAGGTCTGGAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCT GGTTCTATCAGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTC CTCTCAGAACGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAG GGCAGCCCCCATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTC GGGGCTTGAAGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCC TTGCTGACTCAGGAACACCTAAGATGTGCAAGGGAGTGGGTTGGTTTAGG TCAACTGGGTTACCCTGCGCAGACACAATTTGATCTCCTCAGAGCTGGCA ATAGTGGACAGGATCTGCCTCAACCCCTTACACGGTGCATCTCTGTGGGG ATGTGCATGGCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGA GTGTCAGACTCGCCCATTTCTTTCCCTCCTCATTCCAGTTTTGTCGACTT CTGTGTAACATTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGCTTCCC AGTCCCAGCCGACACCCAGCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAA ATGTCCCTTCTCTTTCTGCCCAATCACCCCTTCCCCACTCCACAGAGCTC TCCTGTTTCTCTGTGTGGATACTGTGGGGCATATTATTTCTACCGCCACC ACCGGCTGTATTTCACATGGGTCCTTTTCTATTTTCCCTAAGTGTCAGCC GGTCTGAGAAATAAAGGGAAGGCATACAAAAGAGCAAAATTTTAAAGCTG GGTGTTGGGGGGAGACATCACATGTCAGCAGGTTCCGTGATCCCTCCTGA GTAGCAAAACCAGCAAGTTTTTATTGGTGATTTTCAAAAGGGGAGGGAGT GCACAAATAGGGTGTGGGTCACAGAGATCACATCCTTCACAAGGTAATAA AATATCACAAGGTAAATGGAGGCAGGGCAAGATCACAGGACTGGGGTGAA ATTAAAATTGCTAATGAAGTTTCGGGCACGCATTGTCATTGAAAACATTT TATCAGGAGACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTAT TAGGAGGCAATTTCCTCATCCTAATAAGCCTGGAAGCGCTACGGGGGACC GGGGCTTATTTCATCCCTTATCTGTAAGCGTAAAAGACAGACGTTCCCAA AGCGGCCATTTCAGAGGCCTCCCCTTAGGAACACATTCTCTTTCTCAGGG ATGTTCCTTGCTGAGAAAAGGAATTCAGCGATATTTCTCCTATTTGCTTT TGAAGGAAGAGAAATGTGGCTCTGTTCTGCCTGGCCCACAGGCAGCCAGC CTTTAAGGTTATCTCCCTTGTTCCCTGAACAACGCTGTTATCCTGTTCTT TTTTCACAGTGCCCAGATTTCATATTGTTTAAACAATTTCTGCAGTTAAC GCAATCATCACAGGGTCCTGAGGTGACATTCATCCTCAGTTTATGAAGAA GATGGGATTAAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGAGT ATTGATTGGGGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATGTTC AGAGATTGCAGTAAAGACAGGCGTAAGAAATTATAAAAATATTAATTTGG GGAACTAATAAATGTCCATGAAATCTTCAAATTTATGTTCTTGTGCCATG GCCTCAGCCGGTCCCTCTGTTTGGGGTCCCTGACTTCCCGCAACACAGCA CAGTGCTTTGAAAACACACATAGGATTCAGGAGGCCTCTGTCTTCTTTTC AACCCCTCTCAGCTTTCATGAAACAGTTTCATACTGTCCCAGTGGACAGC CCTTACAGGTTCAGGAAGTGGCCCCATGTTTAATGAGTTTTGGTCCTTTT ATATTCAGGACTCACATATAGTTTCGAAAATTGAGGGTGTCACCCTCTGA CCTGTTCAAGGCATTGTCAGGGCAGGCTCGATACCCCCATCCATCACTGC TGGAAAAATTCTGAGATTATGATGGACCACATTTGTATCCAGAAGAGGCA GGGTTTGTGCTTGGGCAGGGAAAGGGATAATAAAGGTTTGTAGTGTCTCT GCTTAGCCAGAAACCTGATTCCTGATTGTCCCCTGGGCAGCCCCTGGTTC CCCTAACATTTTATCTGCCAGTGTCTGAGCCTCAGCAATGGCATCTGATG TCCTAGTCAGTCCATGCATCAGCAGATGTGGGATTGCATGGTGGGGGGCA TCCTCTAACAGATAGAAAGATACCCCAGGATTAGAGAAATGGAGGGCTCA GTCTGGTCTCCAGCAGGACCTTTGTTCATGGATGAGTTCACAGCAGAGGA GACCTGGGAAGACACATGGGAAGCAAGTGGCAGGAACAGGAAGTGGAATT GTTGCCAGGTGGATTCCCCCTCCCAGAGAACCTTTTGTTCTGCACCTTTT CCCTTCAAGTCTAATTCTGTCTTTTCCTTTGTTGCAATTTACAGACACTT GGCCAACCTCACATGCATCAACAGCAGGTAAATAATCCTCTCACCCCTCC CTAGGGCTCACTGTCTCTGGACATATTTTGTGTTTGAAACTGATAGGATG AGGCTCAAGGTGGGCCCCTCTTTTTTCACTCCCCTGTGGGTTGCGTGGGA GGAAGGTGGAATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTTGAGGATG GAGGGTGCTGGTGACTGTCTCCCATGGAATCCTGTTCCAAGTGGTCAGGA AAGATCCTCATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCCTTAATCC TACTGGGACCTCGTTCCTGGCCCTCAGGCCATGGGATCCAGATCTCTGAA GAGCAGGTGAAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGTCTTGCCA TCACTGGCAAATTGCCAGAAGGCAGAGAGGACCATGCAGGTGCCAATGAG CTCCTGAATTCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGTGTATCTC CATCCTTTGTGTACCCAGAGTGGGGAATGGGGTGTCCATTCCTGTCCCCT CCTCTGGGGTCATACATGCTTACCCATAGCTTGAGCTTTTATAGACTTGA GTAGAATAGGGCATCACTTTTTCCACTATGACAAAGTTTAACCTCTGGGT GCAGCTATCTTCCATCATGACTGCATGCCCTGGTGACTTCTGCATTCGTA TTGAAACTTGACTACTTTGCCCACTGCCCTGATTGTTGTCCATGCCTTAT CCTTGACCTCATATTTGAGATGGATGAAGCGTTCTTGTGTTCCCCTGTAG GATCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATGGAGGTGACAGGTGT CAGGGCCGAGTGGAGGTCCTATACCGAGGCTCCTGGGGCACCGTGTGTGA TGACTACTGGGACACCAATGATGCCAATGTGGTTTGCAGGCAGCTGGGCT GTGGCTGGGCCACGTCAGCCCCAGGAAATGCCCGGTTTGGCCAGGGTTCA GGACCCATTGTCCTGGATGATGTGCGCTGCTCAGGACATGAGTCCTATCT GTGGAGCTGCCCCCACAATGGCTGGCTCTCCCACAACTGTGGCCATCATG AAGACGCTGGTGTCATCTGCTCAGGTGGGCCTCCAAGACCTTCGGCTCCC TCTCCTAGGTTGGAGTTTGCTCAGGAAGAAAATCCTAATTACATTATGAT CTCCTCTGAACTCACAGATTCTTCTATGTTTCTTGTATTTATGCAGCCTT GTTAGCTCCCTGCTAAGAATCTGTATGAATTTTGCTACAGCGGTTGGTGT TCATGTGGTCACTTAGGACAGGGGACCAAAGTCAAACAACAACCCAGACT TTATCCCCTTCCTGAGGCAGTGCAAGGAAGAGGCAGAAGAGAAAACTGCT GGCTCCCCAGGGCTCCATTTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGT ATCATGGACATAGGACAGACAGCGGGGCAGAGGAGGGATCCTCTCACTGT GAGGAACTCTGAACCAAAGATGCTTGTCTGGAAGTGGGTTCTCAGCTGAG ACCCAGTGAGGAGGTCTGGAAACAGAGGCTCAAGGGTTAGGAGTGCAAAA TGGGTGTCTGGTTCTATCAGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGA CCTCAGGTCCTCTCAGAACGCTGCAGAGCACTGCCTTGCCCTGGGTCTGG TGTGGGGAGGGCAGCCCCCATGAGACTGGCCAGGCTTGGCCTCATTATTG CCTGTGGTCGGGGCTTGAAGATCACACAAGGGATTTTGGCTGGAGTGGCT TCCTCAGCCTTGCTGACTCAGGAACACC	T T	exon_loss_variant exon_loss_variant	HIGH	HG01069.hp1 NA19030.hp1 HG01069.hp1 NA19030.hp1	a0053 a0075 a0053 a0075	a0053c0091 a0075c0072 a0053c0091 a0075c0072	a0053c0091t0002 a0075c0072t0002 a0053c0091t0002 a0075c0072t0002	a0053c0091t0002g0036 a0075c0072t0002g0177 a0053c0091t0002g0036 a0075c0072t0002g0177	2	282	0.0071	-12177	c.369 others(15): Show c.3698-84_4859-86del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	31/56				INFO_REALIGN_3_PRIME	chr10	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
DNAH8_chr6_38710311_39035792	38770561	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01255.hp2 HG01891.hp1 HG02559.hp1 others(6): Show HG01255.hp2 HG01891.hp1 HG02559.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG03098.hp1 NA19030.hp2 NA19043.hp1	a0008 a0012 a0015 others(4): Show a0008 a0012 a0015 a0016 a0050 a0053 a0054	a0008c0127 a0012c0126 a0015c0125 others(5): Show a0008c0127 a0012c0126 a0015c0125 a0016c0044 a0016c0123 a0050c0128 a0053c0124 a0054c0122	a0008c0127t0001 a0012c0126t0001 a0015c0125t0001 others(5): Show a0008c0127t0001 a0012c0126t0001 a0015c0125t0001 a0016c0044t0001 a0016c0123t0001 a0050c0128t0001 a0053c0124t0001 a0054c0122t0001	a0008c0127t0001g0152 a0012c0126t0001g0208 a0015c0125t0001g0229 others(6): Show a0008c0127t0001g0152 a0012c0126t0001g0208 a0015c0125t0001g0229 a0016c0044t0001g0162 a0016c0044t0001g0230 a0016c0123t0001g0159 a0050c0128t0001g0232 a0053c0124t0001g0154 a0054c0122t0001g0251	9	284	0.0317	0	c.176 others(6): Show c.1764+2T>C		DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	12/92					chr6	TogoVar
DRD4_chr11_632269_645706	639791	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00642.hp2 HG01109.hp2 others(10): Show HG00544.hp1 HG00642.hp2 HG01109.hp2 HG01361.hp2 HG01928.hp1 HG02055.hp1 HG02738.hp1 HG03688.hp1 NA18950.hp2 NA18967.hp2 NA19030.hp2 NA19075.hp2 NA19077.hp1	a0000 a0000	a0000c0007 a0000c0011 a0000c0030 others(2): Show a0000c0007 a0000c0011 a0000c0030 a0000c0031 a0000c0052	a0000c0007t0001 a0000c0007t0002 a0000c0011t0001 others(3): Show a0000c0007t0001 a0000c0007t0002 a0000c0011t0001 a0000c0030t0001 a0000c0031t0001 a0000c0052t0001	a0000c0007t0001g0001 a0000c0007t0001g0003 a0000c0007t0001g0005 others(7): Show a0000c0007t0001g0001 a0000c0007t0001g0003 a0000c0007t0001g0005 a0000c0007t0001g0006 a0000c0007t0002g0007 a0000c0011t0001g0002 a0000c0011t0001g0010 a0000c0030t0001g0007 a0000c0031t0001g0019 a0000c0052t0001g0058	13	421	0.0309	1	c.546 others(4): Show c.546dupC	p.Ala others(5): Show p.Ala183fs	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	583/1399	547/1260	183/419	INFO_REALIGN_3_PRIME	chr11	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
DUSP13_chr10_75089436_75104512	75099203	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0007t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0004g0052 a0001c0006t0001g0014 a0001c0006t0001g0053 a0001c0007t0001g0017 a0001c0012t0001g0050 a0001c0013t0001g0058	164	404	0.4059	-1	c.234 others(4): Show c.234delA	p.Ala others(4): Show p.Ala80fs	DUSP13	ENSG00000079393.22	transcript	ENST00000478873.7	protein_coding	1/4	309/1320	234/1005	78/334		chr10	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
EFCAB8_chr20_32853923_32966845	32878768	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01123.hp2 HG01975.hp2 HG02027.hp1 others(11): Show HG01123.hp2 HG01975.hp2 HG02027.hp1 HG02055.hp2 HG02109.hp1 HG02970.hp2 HG03471.hp1 HG04115.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp1 NA18998.hp1 NA19030.hp2 NA19068.hp2	a0005 a0029 a0005 a0029	a0005c0008 a0005c0013 a0005c0033 others(5): Show a0005c0008 a0005c0013 a0005c0033 a0005c0034 a0005c0035 a0005c0036 a0005c0037 a0029c0059	a0005c0008t0001 a0005c0008t0002 a0005c0008t0004 others(9): Show a0005c0008t0001 a0005c0008t0002 a0005c0008t0004 a0005c0013t0001 a0005c0013t0002 a0005c0013t0004 a0005c0033t0008 a0005c0034t0002 a0005c0035t0001 a0005c0036t0004 a0005c0037t0004 a0029c0059t0003	a0005c0008t0001g0002 a0005c0008t0001g0063 a0005c0008t0001g0214 others(11): Show a0005c0008t0001g0002 a0005c0008t0001g0063 a0005c0008t0001g0214 a0005c0008t0002g0050 a0005c0008t0004g0205 a0005c0013t0001g0200 a0005c0013t0002g0024 a0005c0013t0004g0097 a0005c0033t0008g0113 a0005c0034t0002g0031 a0005c0035t0001g0095 a0005c0036t0004g0180 a0005c0037t0004g0183 a0029c0059t0003g0071	14	284	0.0493	1	c.394 others(4): Show c.394dupC	p.Arg others(5): Show p.Arg132fs	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	5/27	489/4197	395/3867	132/1288	INFO_REALIGN_3_PRIME	chr20	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
FAAP20_chr1_2184548_2199772	2194687	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	392	0.0026	0	c.62+ others(4): Show c.62+1G>A		FAAP20	ENSG00000162585.17	transcript	ENST00000378546.9	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
FAM90A7_chr8_7551700_7564712	7558326	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01517.hp1 HG01517.hp2 HG02738.hp1 others(12): Show HG01517.hp1 HG01517.hp2 HG02738.hp1 HG02738.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp2 NA18952.hp1 NA18952.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0016 a0017	a0001c0001 a0002c0017 a0003c0002 others(11): Show a0001c0001 a0002c0017 a0003c0002 a0004c0003 a0005c0005 a0006c0004 a0007c0006 a0008c0007 a0009c0008 a0010c0011 a0011c0010 a0012c0009 a0016c0015 a0017c0016	a0001c0001t0000 a0002c0017t0000 a0003c0002t0000 others(11): Show a0001c0001t0000 a0002c0017t0000 a0003c0002t0000 a0004c0003t0000 a0005c0005t0000 a0006c0004t0000 a0007c0006t0000 a0008c0007t0000 a0009c0008t0000 a0010c0011t0000 a0011c0010t0000 a0012c0009t0000 a0016c0015t0000 a0017c0016t0000	a0001c0001t0000g0005 a0001c0001t0000g0011 a0002c0017t0000g0018 others(12): Show a0001c0001t0000g0005 a0001c0001t0000g0011 a0002c0017t0000g0018 a0003c0002t0000g0003 a0004c0003t0000g0012 a0005c0005t0000g0004 a0006c0004t0000g0002 a0007c0006t0000g0010 a0008c0007t0000g0006 a0009c0008t0000g0007 a0010c0011t0000g0001 a0011c0010t0000g0009 a0012c0009t0000g0008 a0016c0015t0000g0016 a0017c0016t0000g0017	15	18	0.8333	0	c.432 others(5): Show c.432+2T>C		FAM90A7	ENSG00000285975.1	transcript	ENST00000650288.1	protein_coding	3/3					chr8	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
FCSK_chr16_70449595_70485274	70469284	C C	T T	stop_gained stop_gained	HIGH	NA19030.hp2 NA19030.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0109 a0008c0025t0001g0109	1	356	0.0028	0	c.916 others(3): Show c.916C>T	p.Gln others(4): Show p.Gln306*	FCSK	ENSG00000157353.17	transcript	ENST00000288078.11	protein_coding	10/24	974/3907	916/3255	306/1084		chr16	TogoVar
FLG_chr1_152297165_152330239	152309169	G G	T T	stop_gained stop_gained	HIGH	HG00558.hp2 HG02027.hp1 HG02976.hp1 others(2): Show HG00558.hp2 HG02027.hp1 HG02976.hp1 HG03225.hp1 NA19030.hp2	a0032 a0123 a0124 a0032 a0123 a0124	a0032c0034 a0123c0144 a0124c0145 a0032c0034 a0123c0144 a0124c0145	a0032c0034t0001 a0123c0144t0001 a0124c0145t0001 a0032c0034t0001 a0123c0144t0001 a0124c0145t0001	a0032c0034t0001g0066 a0032c0034t0001g0237 a0123c0144t0001g0089 others(1): Show a0032c0034t0001g0066 a0032c0034t0001g0237 a0123c0144t0001g0089 a0124c0145t0001g0090	5	426	0.0117	0	c.571 others(4): Show c.5717C>A	p.Ser others(5): Show p.Ser1906*	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	5789/12793	5717/12186	1906/4061		chr1	TogoVar
FMN2_chr1_240086883_240480187	240207539	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00621.hp2 HG00738.hp1 others(13): Show HG00621.hp1 HG00621.hp2 HG00738.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG02055.hp1 HG02083.hp2 HG02486.hp1 HG02602.hp2 HG02809.hp1 HG02896.hp2 NA19030.hp1 NA19030.hp2	a0022 a0030 a0060 others(12): Show a0022 a0030 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0093 a0094	a0022c0092 a0022c0093 a0030c0062 others(13): Show a0022c0092 a0022c0093 a0030c0062 a0060c0080 a0061c0079 a0062c0065 a0063c0134 a0064c0066 a0065c0112 a0066c0107 a0067c0091 a0068c0133 a0069c0106 a0070c0113 a0093c0026 a0094c0040	a0022c0092t0001 a0022c0093t0006 a0030c0062t0009 others(13): Show a0022c0092t0001 a0022c0093t0006 a0030c0062t0009 a0060c0080t0011 a0061c0079t0004 a0062c0065t0002 a0063c0134t0005 a0064c0066t0002 a0065c0112t0003 a0066c0107t0001 a0067c0091t0003 a0068c0133t0005 a0069c0106t0001 a0070c0113t0003 a0093c0026t0001 a0094c0040t0001	a0022c0092t0001g0107 a0022c0093t0006g0138 a0030c0062t0009g0058 others(13): Show a0022c0092t0001g0107 a0022c0093t0006g0138 a0030c0062t0009g0058 a0060c0080t0011g0057 a0061c0079t0004g0100 a0062c0065t0002g0092 a0063c0134t0005g0151 a0064c0066t0002g0017 a0065c0112t0003g0112 a0066c0107t0001g0134 a0067c0091t0003g0120 a0068c0133t0005g0153 a0069c0106t0001g0172 a0070c0113t0003g0139 a0093c0026t0001g0022 a0094c0040t0001g0032	16	174	0.0920	1	c.273 others(5): Show c.2732dupC	p.Pro others(5): Show p.Pro912fs	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	2960/6429	2733/5169	911/1722	INFO_REALIGN_3_PRIME	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
FMO2_chr1_171180300_171217686	171209118	C C	CT CT	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show HG00140.hp2 HG00544.hp2 HG00741.hp2 HG01192.hp2 HG01256.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18956.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0019 a0004c0009 a0002c0002 a0002c0019 a0004c0009	a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 others(2): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0004c0009t0004	a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 others(40): Show 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 a0004c0009t0004g0016 a0004c0009t0004g0108 a0004c0009t0004g0110 a0004c0009t0004g0174 a0004c0009t0004g0175	81	366	0.2213	1	c.158 others(5): Show c.1588dupT	p.Cys others(5): Show p.Cys530fs	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1655/5215	1589/1608	530/535	INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXD4L5_chr9_65277101_65290209	65283162	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00323.hp2 HG00597.hp1 others(52): Show HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00741.hp1 HG01175.hp1 HG02015.hp2 HG02027.hp1 HG02145.hp1 HG02145.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18966.hp2 NA18977.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0000 a0000	a0000c0001 a0000c0007 a0000c0008 others(6): Show a0000c0001 a0000c0007 a0000c0008 a0000c0010 a0000c0011 a0000c0012 a0000c0013 a0000c0014 a0000c0015	a0000c0001t0001 a0000c0001t0004 a0000c0001t0005 others(12): Show a0000c0001t0001 a0000c0001t0004 a0000c0001t0005 a0000c0001t0007 a0000c0001t0008 a0000c0001t0015 a0000c0001t0016 a0000c0007t0009 a0000c0008t0001 a0000c0010t0001 a0000c0011t0001 a0000c0012t0001 a0000c0013t0001 a0000c0014t0001 a0000c0015t0001	a0000c0001t0001g0000 a0000c0001t0004g0000 a0000c0001t0005g0000 others(12): Show a0000c0001t0001g0000 a0000c0001t0004g0000 a0000c0001t0005g0000 a0000c0001t0007g0000 a0000c0001t0008g0000 a0000c0001t0015g0000 a0000c0001t0016g0000 a0000c0007t0009g0000 a0000c0008t0001g0000 a0000c0010t0001g0000 a0000c0011t0001g0000 a0000c0012t0001g0000 a0000c0013t0001g0000 a0000c0014t0001g0000 a0000c0015t0001g0000	55	81	0.6790	-1	c.121 others(5): Show c.1215delC	p.Trp others(5): Show p.Trp406fs	FOXD4L5	ENSG00000204779.2	transcript	ENST00000377420.1	protein_coding	1/1	2047/3109	1215/1251	405/416		chr9	TogoVar
FOXRED2_chr22_36482190_36512040	36506336	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00738.hp2 HG01175.hp1 HG01978.hp2 others(8): Show HG00738.hp2 HG01175.hp1 HG01978.hp2 HG02809.hp2 HG03927.hp2 HG04199.hp1 NA18965.hp2 NA18972.hp2 NA18986.hp1 NA19009.hp2 NA19030.hp1	a0005 a0005	a0005c0007 a0005c0009 a0005c0012 a0005c0007 a0005c0009 a0005c0012	a0005c0007t0001 a0005c0007t0003 a0005c0007t0005 others(6): Show a0005c0007t0001 a0005c0007t0003 a0005c0007t0005 a0005c0007t0031 a0005c0009t0002 a0005c0009t0008 a0005c0009t0027 a0005c0012t0001 a0005c0012t0006	a0005c0007t0001g0037 a0005c0007t0001g0040 a0005c0007t0003g0088 others(8): Show a0005c0007t0001g0037 a0005c0007t0001g0040 a0005c0007t0003g0088 a0005c0007t0005g0077 a0005c0007t0031g0087 a0005c0009t0002g0110 a0005c0009t0002g0113 a0005c0009t0008g0111 a0005c0009t0027g0112 a0005c0012t0001g0039 a0005c0012t0006g0038	11	320	0.0344	1	c.86d others(3): Show c.86dupC	p.Arg others(4): Show p.Arg30fs	FOXRED2	ENSG00000100350.16	transcript	ENST00000397224.9	protein_coding	2/9	119/4906	86/2055	29/684		chr22	TogoVar
FSCB_chr14_44499149_44512283	44504985	G G	GAGGGGGC others(30): Show GAGGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19030.hp2 NA19030.hp2	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0002 a0018c0022t0002	a0018c0022t0002g0000 a0018c0022t0002g0000	1	446	0.0022	37	c.200 others(46): Show c.2002_2003insGCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCC T	p.Ala others(5): Show p.Ala668fs	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2298/3135	2002/2478	668/825		chr14	TogoVar
FUT2_chr19_48690971_48710951	48703417	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0022 a0002c0002 a0002c0008 a0002c0022	a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 others(13): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0015 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0008t0010 a0002c0022t0003	a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0017 others(51): Show a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0030 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0110 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0139 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0017 a0002c0002t0005g0022 a0002c0002t0005g0046 a0002c0002t0005g0072 a0002c0002t0005g0101 a0002c0002t0005g0111 a0002c0002t0008g0013 a0002c0002t0008g0019 a0002c0002t0008g0033 a0002c0002t0008g0054 a0002c0002t0011g0013 a0002c0002t0011g0041 a0002c0002t0011g0080 a0002c0002t0011g0086 a0002c0002t0012g0019 a0002c0002t0012g0038 a0002c0002t0012g0059 a0002c0002t0014g0038 a0002c0002t0014g0041 a0002c0002t0014g0102 a0002c0002t0015g0013 a0002c0002t0015g0019 a0002c0002t0015g0033 a0002c0002t0020g0008 a0002c0002t0020g0021 a0002c0002t0021g0004 a0002c0002t0021g0021 a0002c0002t0022g0055 a0002c0002t0022g0056 a0002c0002t0033g0127 a0002c0002t0034g0124 a0002c0002t0035g0058 a0002c0002t0036g0057 a0002c0008t0010g0014 a0002c0022t0003g0099	91	394	0.2310	0	c.461 others(3): Show c.461G>A	p.Trp others(4): Show p.Trp154*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	582/3116	461/1032	154/343		chr19	TogoVar
G3BP1_chr5_151766954_151817785	151790321	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	342	0.0029	0	c.96- others(4): Show c.96-2A>G		G3BP1	ENSG00000145907.16	transcript	ENST00000356245.8	protein_coding	2/11					chr5	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
GAGE1_chrX_49594020_49613538	49600811	G G	T T	stop_gained stop_gained	HIGH	NA19030.hp1 NA19030.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0080 a0008c0010t0001g0080	1	311	0.0032	0	c.172 others(3): Show c.172G>T	p.Glu others(3): Show p.Glu58*	GAGE1	ENSG00000205777.19	transcript	ENST00000381700.11	protein_coding	3/5	288/2993	172/354	58/117		chrX	TogoVar
GHR_chr5_42418439_42726878	42628209	TTTATATG others(2672): Show TTTATATGAGTGCACGATAGGGGGTGTTTTGGGCCAAAAGGTAGCTTTTT GGACATGAAAACGGAAATGCCTGTTCCCATTTAGGGCTGCAGGTCTTCAG GCTTGAGGGTGGGGCCTTTGCCCAGGAACTACCCTCTTCTACCCAGTGTT TCCCTGTCTCCTGTCCATATCACCAGTATTCACAGTCTCAAGGAGTCTTG AGAAAGTGTGCCCAAGGCCGTCAGATTCAGTTTGGTTCTGTATGTTTCAG GGAGGCAGGAATTACAGGCAAAGACATAAATCAGTACATGGAAGGTATAC ATTGGTTCACTCTGAAAAGGCAGGATGTCTTGAAGTGGGGACTTGCAGGT CATAGTTTGGTTCAGAGATTCTTTAATCTGCAGTTGGTTAAAGGAACAAA ACTGTACAGAAGCTTCGAGTTAGCAAAAAGAAATATTTAAATTAAGATAA GGATGCTATGTCAGAGTCAGCCACAAAATGACCTGTTTAGCAAGATTAAT GGCCTATAGGTGTGACTTAACCCTTGCCTTGCATGGCCTAAGGTCTTGTT TATAATTTAGTATCTTATTGCCCAAAGAGTCTATTTAGTCAGTCTTATGA TCTCTACTTTAACATTAATGCTGGTCACTTGTGCCTAAACTCCAAAGGGG AGGTATATCCAACCTGCCTTCCCATTGTGGCCAGGAACCTTTCTCTGGAG TCCCCTTGGCCAAGAAGGGGTCCATTCGGTTGGTTTGGGAAGCTGAGGAT TTTGTTTTTAGTTTACACAGGGTCATATCAGATTGTTTTGATGGGGATGA CTAATGGTTTTCTTCTCTTTCTGTTTCAGCCACAGCAGCTATCCTTAGCA GAGCACCCTGGAGTCTGCAAAGTGTTAATCCAGGCCTAAAGACAAGTAAG AATTTCAGTCCTTTTTCTTCCTTCAATGATATTTTCCATGTTTTAGTGTA ATTAAGCTACTATCCTTTCTCTATTTTATTTGGGATGGTAGTAACTGGAA TAGTGACTGAGTTGAAATTTTATAGGCAAGCAAAACATTTTTTAAGGATT TATTTTTTAACTTCTGATATAGTTTGGATGTTTGTCCCTTCCAAATCTCA TGTAATCCCCAATGTTGGAAGTGGAGACTGGGAGGAGATGTTTGGGTCAT GTGGGCAGATTCCTCATGAATGGTTTAGCACCCTCCTCTTTGTGCTGTCC TCACCATGAGTGAGTTCTCATGAGATCTGGTTGTTTAAAAGTGTGTGGCA CCTCCCCCTTCAATCTCTTGCTCCCACTCTCGCCCTGTGAGACACCTGCT CCGCTTCACCATGATTATAGGCTTCCTGAGGCTTTCACCAGAAGCAGATG CTAATACAGCCTGCAGAACTGTGAGCCATTTAAATCATTTTTCTTTATAA ATTACCCAGCCTCAGGTACTTTTTTATAGCAATGAAAACAAACTAATACA ACTTCTGTGCAAGGCTGCTTTTTTTTCTATTTTTTGCTTGTGCTTGGAGG TTAAGTAAGGCCAAATTAATGAAGGAGGAAAAAAGAGGAAATGATACATC ATGGATCAACAATTATTTATTGAATTTAGGAAACTGCCTCTTTTTATAAA TTCTTTTTAAAATTATTTTCATTATTATCTTGAAGTATTTATCTAAGGTT TACACTGGTAGAAAGTTAAACTTGTCTCTCCAACCAAATTGCCTTAAGCT TCAAAATTATGCCTTATTGTAAGCTCTTTCTTAACCTTAAAATGACTTTA CACATTCCCCGCTGGTCCTTTGACAATCTCCTCTTCAACCACAAGACAGA ACCCCACCATCAACTCTGTGGGGAAGCGTCTCCAAATTCTCTAGTCCTGA ACAACATTCTGCCTTCTCTGCTTCCATGGAACTTTGTCCTTTACAACATG ATAGCGTTTGCCTCCTGACATTTTAGTGTGTGTGTTAGCCCTGCATATAG AACTCACCAGATTGTGTGGACTGCATGAATGAATTAATTCTATTGAACTT TAAGGCAAAGCCTAAACTTTATGCTTCTTCTAAATCCCTTACATCTCCTA AAAAAATTCTGATCCATAGTAGTAGGTACTTGTTTAATTAAATTTTAGGG ATGGATATTTTTCATCAGTGGAAGTATATGCTAGAGTCCATATTATGCAA TAAGGGAAGGGAAGACAGTGTACCTAAATCAGTTAAGATATTGCTATTCT TGTTGTTATTCTAGAGTCACGAAATCATAATTTGAATTTTATGACTAAAT TGCAGAATTAATTTCCAATGTGAGATTTTAACATTATTTCCTTGGAGGTG ACCAAAAAGGAGAGCTGGTACTGTTTTTAACAACTGTCATTCAATTGTCA GTTGTGCCAGACCACAAATCCTTTATAGCCCTCCTGTTTAAGAAGCATCT GACATGTTAAGCTGCTCCCTAATTAACACAGAGGTTGTAAAAGAAGTGGC TGTTTGGTTCTGTTTGGGTTTCCCAGCCAGTATATTCCAAAGCCTTTTTT CACTCAACAGATGAGTTATGTGCTTTATATTCTGTAAGGAAATGAGAAGT AATCAGTTGAAAATGTGTTACTAATGGTACATGCTTCACATTGAAACCAT CCTCCTGACACAAACATAATACTTTGCCCTCCACTGTCCCCCAAAGTGGC AGTAGGATTTCTCTAAGTAATTTTCTTTAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(87): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18967.hp1 NA18995.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0008 a0001c0012 others(2): Show a0001c0001 a0001c0008 a0001c0012 a0004c0004 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0008t0003 a0001c0008t0007 a0001c0012t0002 a0004c0004t0011 a0004c0004t0012 a0004c0004t0016 a0004c0004t0017 a0004c0004t0018 a0004c0004t0029 a0004c0004t0030 a0004c0004t0031 a0004c0004t0032 a0004c0004t0033 a0008c0009t0001 a0008c0009t0006	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(87): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0129 a0001c0001t0004g0157 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0005g0025 a0001c0001t0005g0046 a0001c0001t0005g0067 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0005g0098 a0001c0001t0005g0101 a0001c0001t0005g0131 a0001c0001t0005g0183 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0014g0060 a0001c0001t0014g0087 a0001c0001t0014g0104 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0015g0141 a0001c0001t0020g0045 a0001c0001t0020g0058 a0001c0001t0023g0099 a0001c0001t0028g0108 a0001c0008t0003g0150 a0001c0008t0003g0162 a0001c0008t0007g0083 a0001c0008t0007g0084 a0001c0012t0002g0115 a0004c0004t0011g0001 a0004c0004t0011g0002 a0004c0004t0011g0139 a0004c0004t0011g0163 a0004c0004t0012g0007 a0004c0004t0012g0009 a0004c0004t0012g0130 a0004c0004t0012g0177 a0004c0004t0016g0023 a0004c0004t0016g0027 a0004c0004t0016g0028 a0004c0004t0017g0015 a0004c0004t0017g0053 a0004c0004t0018g0152 a0004c0004t0029g0118 a0004c0004t0030g0149 a0004c0004t0031g0117 a0004c0004t0032g0004 a0004c0004t0033g0006 a0008c0009t0001g0112 a0008c0009t0006g0081	90	210	0.4286	-2679	c.71- others(15): Show c.71-815_136+1798del		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr5	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(367): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGC CCCACATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATC TTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCCGCATCTTCTCCTC CTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCGTGTTCCCACAGCT TCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG02572.hp2 NA19030.hp1 HG02572.hp2 NA19030.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0010 a0006c0020t0010	a0006c0020t0010g0045 a0006c0020t0010g0045	2	396	0.0051	374	c.239 others(383): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAG AAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGC GGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGCAG GAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAG AAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440318	T T	TCCCGCAT others(208): Show TCCCGCATCTTCTCCTCCTGCTTCCGCATCTTCTCCTCCTGCTCCCACAT CTGCTTCTCCTGCTCCTGCAGCCTCTCCTCCTGTCTCCACATCTTCCTGC TCCCGCATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACAT CTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGTCCCGCATCTTCTCCT GCTCCCATATCTTCTC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 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.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 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 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0003 others(22): Show a0000 a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0028 a0030	a0000c0051 a0001c0001 a0001c0003 others(52): Show a0000c0051 a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0029 a0001c0033 a0001c0048 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0003c0007 a0003c0068 a0003c0069 a0004c0006 a0005c0009 a0006c0020 a0006c0031 a0007c0028 a0008c0026 a0010c0030 a0012c0077 a0013c0076 a0014c0074 a0015c0073 a0016c0067 a0017c0043 a0018c0050 a0019c0070 a0020c0049 a0021c0071 a0022c0072 a0023c0047 a0024c0046 a0025c0045 a0028c0035 a0030c0079	a0000c0051t0001 a0001c0001t0001 a0001c0001t0003 others(65): Show a0000c0051t0001 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0013t0001 a0001c0013t0003 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0003 a0001c0027t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0009 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0003c0007t0001 a0003c0007t0009 a0003c0068t0001 a0003c0069t0001 a0004c0006t0001 a0004c0006t0003 a0004c0006t0004 a0005c0009t0001 a0006c0020t0010 a0006c0031t0010 a0007c0028t0015 a0007c0028t0016 a0008c0026t0005 a0010c0030t0019 a0012c0077t0001 a0013c0076t0001 a0014c0074t0001 a0015c0073t0001 a0016c0067t0001 a0017c0043t0001 a0018c0050t0001 a0019c0070t0001 a0020c0049t0001 a0021c0071t0001 a0022c0072t0001 a0023c0047t0004 a0024c0046t0001 a0025c0045t0004 a0028c0035t0004 a0030c0079t0001	a0000c0051t0001g0067 a0001c0001t0001g0001 a0001c0001t0001g0002 others(92): Show a0000c0051t0001g0067 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0133 a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0112 a0001c0005t0004g0092 a0001c0013t0001g0021 a0001c0013t0003g0095 a0001c0014t0001g0013 a0001c0015t0001g0012 a0001c0017t0001g0033 a0001c0017t0001g0096 a0001c0018t0001g0022 a0001c0019t0001g0055 a0001c0019t0003g0035 a0001c0027t0001g0032 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0052t0001g0069 a0001c0053t0001g0070 a0001c0054t0001g0071 a0001c0055t0001g0072 a0001c0056t0001g0090 a0001c0057t0001g0097 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0001c0061t0001g0077 a0001c0062t0001g0099 a0001c0063t0009g0078 a0001c0064t0001g0100 a0001c0065t0001g0101 a0001c0066t0001g0079 a0003c0007t0001g0007 a0003c0007t0009g0036 a0003c0068t0001g0080 a0003c0069t0001g0081 a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068 a0005c0009t0001g0011 a0005c0009t0001g0037 a0006c0020t0010g0045 a0006c0031t0010g0130 a0007c0028t0015g0046 a0007c0028t0016g0047 a0008c0026t0005g0044 a0010c0030t0019g0060 a0012c0077t0001g0111 a0013c0076t0001g0110 a0014c0074t0001g0085 a0015c0073t0001g0104 a0016c0067t0001g0102 a0017c0043t0001g0132 a0018c0050t0001g0066 a0019c0070t0001g0082 a0020c0049t0001g0094 a0021c0071t0001g0103 a0022c0072t0001g0054 a0023c0047t0004g0049 a0024c0046t0001g0093 a0025c0045t0004g0062 a0028c0035t0004g0116 a0030c0079t0001g0137	287	396	0.7248	215	c.215 others(224): Show c.2156_2157insGAGAAGATATGGGAGCAGGAGAAGATGCGGGACCAG GAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAA GATGTGGGGGCAGGAGGAGAAGATGCGGGAGCAGGAAGATGTGGAGACAG GAGGAGAGGCTGCAGGAGCAGGAGAAGCAGATGTGGGAGCAGGAGGAGAA GATGCGGAAGCAGGAGGAGAAGATGCGGG	p.Ser others(5): Show p.Ser720fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2218/3499	2156/2730	719/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440394	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.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 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 HG01168.hp1 HG01168.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 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 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 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.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 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.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 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.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 HG03710.hp1 HG03710.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 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.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 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.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 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.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 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.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 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.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 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(27): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0030	a0000c0002 a0000c0004 a0000c0010 others(74): Show a0000c0002 a0000c0004 a0000c0010 a0000c0016 a0000c0022 a0000c0023 a0000c0024 a0000c0025 a0000c0034 a0000c0037 a0000c0038 a0000c0044 a0000c0051 a0000c0075 a0000c0078 a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0029 a0001c0033 a0001c0048 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0002c0008 a0002c0011 a0002c0041 a0003c0007 a0003c0068 a0003c0069 a0004c0006 a0005c0009 a0006c0020 a0006c0031 a0006c0032 a0007c0028 a0008c0026 a0009c0021 a0010c0030 a0011c0042 a0012c0077 a0013c0076 a0014c0074 a0015c0073 a0016c0067 a0017c0043 a0018c0050 a0019c0070 a0020c0049 a0021c0071 a0022c0072 a0023c0047 a0024c0046 a0025c0045 a0026c0040 a0027c0039 a0028c0035 a0030c0079	a0000c0002t0002 a0000c0002t0005 a0000c0002t0011 others(95): Show a0000c0002t0002 a0000c0002t0005 a0000c0002t0011 a0000c0002t0017 a0000c0004t0002 a0000c0004t0005 a0000c0010t0002 a0000c0010t0011 a0000c0016t0006 a0000c0022t0006 a0000c0023t0002 a0000c0024t0006 a0000c0025t0002 a0000c0034t0002 a0000c0037t0002 a0000c0038t0002 a0000c0044t0002 a0000c0051t0001 a0000c0075t0005 a0000c0078t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0013t0001 a0001c0013t0003 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0003 a0001c0027t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0009 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0002c0008t0007 a0002c0008t0013 a0002c0008t0021 a0002c0008t0024 a0002c0011t0008 a0002c0041t0007 a0003c0007t0001 a0003c0007t0009 a0003c0068t0001 a0003c0069t0001 a0004c0006t0001 a0004c0006t0003 a0004c0006t0004 a0005c0009t0001 a0006c0020t0010 a0006c0031t0010 a0006c0032t0010 a0007c0028t0015 a0007c0028t0016 a0008c0026t0005 a0009c0021t0014 a0010c0030t0019 a0011c0042t0009 a0012c0077t0001 a0013c0076t0001 a0014c0074t0001 a0015c0073t0001 a0016c0067t0001 a0017c0043t0001 a0018c0050t0001 a0019c0070t0001 a0020c0049t0001 a0021c0071t0001 a0022c0072t0001 a0023c0047t0004 a0024c0046t0001 a0025c0045t0004 a0026c0040t0022 a0027c0039t0007 a0028c0035t0004 a0030c0079t0001	a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0040 others(132): Show a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0040 a0000c0002t0002g0114 a0000c0002t0002g0117 a0000c0002t0002g0118 a0000c0002t0005g0025 a0000c0002t0011g0039 a0000c0002t0017g0115 a0000c0004t0002g0009 a0000c0004t0002g0014 a0000c0004t0002g0028 a0000c0004t0005g0121 a0000c0010t0002g0015 a0000c0010t0011g0131 a0000c0016t0006g0031 a0000c0016t0006g0051 a0000c0022t0006g0042 a0000c0023t0002g0041 a0000c0024t0006g0030 a0000c0025t0002g0029 a0000c0034t0002g0119 a0000c0037t0002g0120 a0000c0038t0002g0122 a0000c0044t0002g0053 a0000c0051t0001g0067 a0000c0075t0005g0108 a0000c0078t0006g0052 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0133 a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0112 a0001c0005t0004g0092 a0001c0013t0001g0021 a0001c0013t0003g0095 a0001c0014t0001g0013 a0001c0015t0001g0012 a0001c0017t0001g0033 a0001c0017t0001g0096 a0001c0018t0001g0022 a0001c0019t0001g0055 a0001c0019t0003g0035 a0001c0027t0001g0032 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0052t0001g0069 a0001c0053t0001g0070 a0001c0054t0001g0071 a0001c0055t0001g0072 a0001c0056t0001g0090 a0001c0057t0001g0097 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0001c0061t0001g0077 a0001c0062t0001g0099 a0001c0063t0009g0078 a0001c0064t0001g0100 a0001c0065t0001g0101 a0001c0066t0001g0079 a0002c0008t0007g0016 a0002c0008t0013g0043 a0002c0008t0021g0127 a0002c0008t0024g0128 a0002c0011t0008g0018 a0002c0011t0008g0138 a0002c0041t0007g0126 a0003c0007t0001g0007 a0003c0007t0009g0036 a0003c0068t0001g0080 a0003c0069t0001g0081 a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068 a0005c0009t0001g0011 a0005c0009t0001g0037 a0006c0020t0010g0045 a0006c0031t0010g0130 a0006c0032t0010g0129 a0007c0028t0015g0046 a0007c0028t0016g0047 a0008c0026t0005g0044 a0009c0021t0014g0056 a0009c0021t0014g0057 a0010c0030t0019g0060 a0011c0042t0009g0086 a0012c0077t0001g0111 a0013c0076t0001g0110 a0014c0074t0001g0085 a0015c0073t0001g0104 a0016c0067t0001g0102 a0017c0043t0001g0132 a0018c0050t0001g0066 a0019c0070t0001g0082 a0020c0049t0001g0094 a0021c0071t0001g0103 a0022c0072t0001g0054 a0023c0047t0004g0049 a0024c0046t0001g0093 a0025c0045t0004g0062 a0026c0040t0022g0125 a0027c0039t0007g0124 a0028c0035t0004g0116 a0030c0079t0001g0137	391	396	0.9874	-1	c.208 others(5): Show c.2080delA	p.Arg others(5): Show p.Arg694fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2142/3499	2080/2730	694/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23444055	G G	A A	stop_gained stop_gained	HIGH	HG02109.hp2 HG02572.hp2 HG03486.hp2 others(1): Show HG02109.hp2 HG02572.hp2 HG03486.hp2 NA19030.hp1	a0006 a0006	a0006c0020 a0006c0031 a0006c0032 a0006c0020 a0006c0031 a0006c0032	a0006c0020t0010 a0006c0031t0010 a0006c0032t0010 a0006c0020t0010 a0006c0031t0010 a0006c0032t0010	a0006c0020t0010g0045 a0006c0031t0010g0130 a0006c0032t0010g0129 a0006c0020t0010g0045 a0006c0031t0010g0130 a0006c0032t0010g0129	4	396	0.0101	0	c.313 others(3): Show c.313C>T	p.Arg others(4): Show p.Arg105*	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	5/8	375/3499	313/2730	105/909		chr15	TogoVar
GPR33_chr14_31477875_31493039	31483548	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.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 HG00639.hp1 HG00639.hp2 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 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 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 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 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 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 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 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 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 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 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.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 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 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 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0005g0036 a0001c0003t0001g0013 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0056 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0007t0001g0044 a0001c0008t0001g0048 a0001c0009t0001g0078 a0001c0010t0001g0043 a0001c0011t0001g0054 a0001c0012t0001g0055 a0003c0004t0001g0017 a0003c0004t0001g0027 a0004c0005t0001g0063 a0004c0005t0001g0067	426	448	0.9509	0	c.418 others(3): Show c.418C>T	p.Arg others(4): Show p.Arg140*	GPR33	ENSG00000214943.5	transcript	ENST00000399285.5	protein_coding	2/2	567/1240	418/1002	140/333		chr14	TogoVar
GPRC6A_chr6_116787085_116834083	116792598	A A	AGGT AGGT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG00099.hp1 HG00741.hp2 HG01074.hp2 others(57): Show HG00099.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01358.hp1 HG01943.hp1 HG01975.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18957.hp2 NA19030.hp1 NA19066.hp2 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0003 a0005 a0015 others(1): Show a0003 a0005 a0015 a0017	a0003c0003 a0005c0005 a0005c0015 others(3): Show a0003c0003 a0005c0005 a0005c0015 a0005c0028 a0015c0023 a0017c0025	a0003c0003t0001 a0005c0005t0001 a0005c0015t0001 others(3): Show a0003c0003t0001 a0005c0005t0001 a0005c0015t0001 a0005c0028t0001 a0015c0023t0001 a0017c0025t0001	a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 others(35): Show a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0166 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0251 a0003c0003t0001g0253 a0003c0003t0001g0255 a0005c0005t0001g0004 a0005c0005t0001g0050 a0005c0005t0001g0051 a0005c0005t0001g0052 a0005c0005t0001g0263 a0005c0005t0001g0264 a0005c0005t0001g0265 a0005c0005t0001g0266 a0005c0005t0001g0267 a0005c0005t0001g0268 a0005c0005t0001g0269 a0005c0005t0001g0270 a0005c0005t0001g0271 a0005c0005t0001g0272 a0005c0015t0001g0049 a0005c0028t0001g0262 a0015c0023t0001g0083 a0017c0025t0001g0252	60	368	0.1630	3	c.232 others(12): Show c.2324_2325insACC	p.Tyr others(15): Show p.Tyr775delinsTerPro	GPRC6A	ENSG00000173612.10	transcript	ENST00000310357.8	protein_coding	6/6	2394/2908	2324/2781	775/926		chr6	TogoVar
GRIN2C_chr17_74837023_74864885	74850237	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00673.hp1 HG01099.hp2 others(14): Show HG00408.hp2 HG00673.hp1 HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01433.hp1 HG01433.hp2 HG02071.hp2 HG02572.hp1 HG02602.hp2 HG03654.hp1 HG03669.hp2 HG04204.hp2 NA18949.hp1 NA18980.hp2 NA19030.hp1 NA19087.hp2	a0004 a0004	a0004c0005 a0004c0007 a0004c0010 others(2): Show a0004c0005 a0004c0007 a0004c0010 a0004c0023 a0004c0034	a0004c0005t0001 a0004c0007t0001 a0004c0010t0001 others(2): Show a0004c0005t0001 a0004c0007t0001 a0004c0010t0001 a0004c0023t0001 a0004c0034t0001	a0004c0005t0001g0022 a0004c0005t0001g0121 a0004c0005t0001g0134 others(12): Show a0004c0005t0001g0022 a0004c0005t0001g0121 a0004c0005t0001g0134 a0004c0005t0001g0135 a0004c0005t0001g0136 a0004c0007t0001g0050 a0004c0007t0001g0059 a0004c0007t0001g0060 a0004c0007t0001g0061 a0004c0010t0001g0080 a0004c0010t0001g0090 a0004c0010t0001g0098 a0004c0010t0001g0100 a0004c0023t0001g0155 a0004c0034t0001g0089	17	360	0.0472	1	c.145 others(5): Show c.1459dupG	p.Val others(5): Show p.Val487fs	GRIN2C	ENSG00000161509.14	transcript	ENST00000293190.10	protein_coding	6/13	1616/4271	1459/3702	487/1233		chr17	TogoVar
GRIN3B_chr19_995419_1014732	1004897	G G	GCGTT GCGTT	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG00741.hp2 HG01069.hp1 others(55): Show HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02056.hp2 HG02135.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02895.hp1 HG02965.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18944.hp1 NA18947.hp1 NA18953.hp2 NA18982.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA19030.hp1 NA19065.hp1 NA19067.hp1 NA19089.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0003 a0010 a0023 others(6): Show a0003 a0010 a0023 a0034 a0058 a0070 a0091 a0092 a0103	a0003c0005 a0003c0025 a0003c0026 others(21): Show a0003c0005 a0003c0025 a0003c0026 a0003c0027 a0003c0028 a0003c0038 a0003c0039 a0003c0068 a0003c0069 a0003c0070 a0003c0071 a0003c0072 a0003c0073 a0010c0023 a0010c0054 a0010c0057 a0010c0142 a0023c0033 a0034c0050 a0058c0100 a0070c0139 a0091c0080 a0092c0060 a0103c0091	a0003c0005t0002 a0003c0025t0002 a0003c0026t0002 others(21): Show a0003c0005t0002 a0003c0025t0002 a0003c0026t0002 a0003c0027t0002 a0003c0028t0002 a0003c0038t0002 a0003c0039t0002 a0003c0068t0002 a0003c0069t0002 a0003c0070t0002 a0003c0071t0002 a0003c0072t0002 a0003c0073t0002 a0010c0023t0001 a0010c0054t0001 a0010c0057t0002 a0010c0142t0003 a0023c0033t0002 a0034c0050t0001 a0058c0100t0001 a0070c0139t0003 a0091c0080t0004 a0092c0060t0002 a0103c0091t0001	a0003c0005t0002g0006 a0003c0005t0002g0017 a0003c0005t0002g0047 others(35): Show a0003c0005t0002g0006 a0003c0005t0002g0017 a0003c0005t0002g0047 a0003c0005t0002g0067 a0003c0005t0002g0075 a0003c0005t0002g0087 a0003c0005t0002g0088 a0003c0005t0002g0092 a0003c0025t0002g0006 a0003c0025t0002g0095 a0003c0026t0002g0006 a0003c0026t0002g0091 a0003c0026t0002g0100 a0003c0027t0002g0006 a0003c0027t0002g0047 a0003c0028t0002g0012 a0003c0028t0002g0094 a0003c0038t0002g0012 a0003c0039t0002g0046 a0003c0068t0002g0086 a0003c0069t0002g0017 a0003c0070t0002g0093 a0003c0071t0002g0012 a0003c0072t0002g0090 a0003c0073t0002g0089 a0010c0023t0001g0034 a0010c0023t0001g0144 a0010c0054t0001g0057 a0010c0057t0002g0068 a0010c0142t0003g0163 a0023c0033t0002g0029 a0034c0050t0001g0114 a0034c0050t0001g0115 a0058c0100t0001g0169 a0070c0139t0003g0165 a0091c0080t0004g0085 a0092c0060t0002g0006 a0103c0091t0001g0194	58	446	0.1300	4	c.139 others(13): Show c.1396_1397insCGTT	p.Gly others(5): Show p.Gly466fs	GRIN3B	ENSG00000116032.5	transcript	ENST00000234389.3	protein_coding	3/9	1416/3281	1397/3132	466/1043		chr19	TogoVar
GYPB_chr4_143991104_144024380	144001262	A A	C C	stop_gained stop_gained	HIGH	HG01070.hp1 HG01071.hp1 NA19030.hp2 HG01070.hp1 HG01071.hp1 NA19030.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0005 a0006c0005t0004 a0006c0005t0005	a0006c0005t0004g0029 a0006c0005t0005g0054 a0006c0005t0004g0029 a0006c0005t0005g0054	3	434	0.0069	0	c.59T others(2): Show c.59T>G	p.Leu others(3): Show p.Leu20*	GYPB	ENSG00000250361.10	transcript	ENST00000502664.6	protein_coding	2/5	152/564	59/276	20/91		chr4	TogoVar
H2BW2_chrX_104034956_104047454	104040193	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG03041.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0007 a0004c0009 a0002c0002 a0002c0007 a0004c0009	a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 a0004c0009t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0013 others(4): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0002g0001 a0002c0007t0001g0001 a0004c0009t0001g0001	112	332	0.3374	0	c.199 others(3): Show c.199C>T	p.Gln others(3): Show p.Gln67*	H2BW2	ENSG00000101812.15	transcript	ENST00000675318.3	protein_coding	1/4	238/870	199/447	67/148		chrX	TogoVar
HECTD4_chr12_112155195_112387431	112185241	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01175.hp1 HG01433.hp1 HG01934.hp1 others(19): Show HG01175.hp1 HG01433.hp1 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02738.hp1 HG02809.hp2 HG03516.hp1 HG03654.hp1 NA18947.hp2 NA18950.hp2 NA18980.hp2 NA18989.hp1 NA18994.hp1 NA19000.hp1 NA19030.hp1 NA19067.hp1 NA19068.hp2 NA19080.hp1 NA19091.hp2	a0002 a0008 a0002 a0008	a0002c0004 a0002c0005 a0002c0006 others(2): Show a0002c0004 a0002c0005 a0002c0006 a0002c0026 a0008c0017	a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 others(6): Show a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0005t0001 a0002c0006t0002 a0002c0026t0001 a0008c0017t0001	a0002c0004t0001g0155 a0002c0004t0003g0008 a0002c0004t0003g0015 others(19): Show a0002c0004t0001g0155 a0002c0004t0003g0008 a0002c0004t0003g0015 a0002c0004t0003g0039 a0002c0004t0003g0052 a0002c0004t0004g0063 a0002c0004t0005g0048 a0002c0004t0005g0057 a0002c0004t0007g0036 a0002c0005t0001g0165 a0002c0005t0001g0170 a0002c0005t0001g0197 a0002c0005t0001g0199 a0002c0005t0001g0231 a0002c0005t0001g0239 a0002c0005t0001g0246 a0002c0006t0002g0089 a0002c0006t0002g0094 a0002c0006t0002g0097 a0002c0006t0002g0126 a0002c0026t0001g0215 a0008c0017t0001g0190	22	270	0.0815	1	c.972 others(5): Show c.9724dupG	p.Ala others(6): Show p.Ala3242fs	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	61/76	10027/15752	9724/13257	3242/4418		chr12	TogoVar
HLA-B_chr6_31348875_31362179	31356366	G G	T T	stop_gained stop_gained	HIGH	HG00438.hp2 HG00621.hp2 HG01074.hp1 others(44): Show HG00438.hp2 HG00621.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01358.hp1 HG01516.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02602.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG03209.hp1 HG03579.hp2 HG03834.hp1 HG04204.hp2 NA18522.hp1 NA18948.hp2 NA18951.hp1 NA18954.hp1 NA18960.hp2 NA18961.hp2 NA18965.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18985.hp1 NA18989.hp1 NA18998.hp1 NA19000.hp2 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19067.hp2 NA19075.hp2 NA19078.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0014 a0018 a0024 others(7): Show a0014 a0018 a0024 a0025 a0029 a0030 a0031 a0033 a0039 a0066	a0014c0014 a0018c0016 a0024c0023 others(7): Show a0014c0014 a0018c0016 a0024c0023 a0025c0024 a0029c0031 a0030c0030 a0031c0029 a0033c0033 a0039c0038 a0066c0058	a0014c0014t0010 a0014c0014t0036 a0018c0016t0006 others(9): Show a0014c0014t0010 a0014c0014t0036 a0018c0016t0006 a0024c0023t0006 a0025c0024t0006 a0029c0031t0010 a0030c0030t0010 a0031c0029t0010 a0033c0033t0022 a0033c0033t0024 a0039c0038t0022 a0066c0058t0010	a0014c0014t0010g0020 a0014c0014t0010g0063 a0014c0014t0036g0110 others(13): Show a0014c0014t0010g0020 a0014c0014t0010g0063 a0014c0014t0036g0110 a0018c0016t0006g0015 a0024c0023t0006g0022 a0025c0024t0006g0023 a0029c0031t0010g0046 a0029c0031t0010g0109 a0030c0030t0010g0045 a0030c0030t0010g0108 a0031c0029t0010g0044 a0031c0029t0010g0107 a0033c0033t0022g0081 a0033c0033t0024g0040 a0039c0038t0022g0041 a0066c0058t0010g0106	47	468	0.1004	0	c.420 others(3): Show c.420C>A	p.Tyr others(4): Show p.Tyr140*	HLA-B	ENSG00000234745.14	transcript	ENST00000412585.7	protein_coding	3/8	441/1536	420/1089	140/362		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584364	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(20): Show a0002 a0003 a0005 a0006 a0007 a0011 a0012 a0014 a0015 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032	a0002c0003 a0003c0002 a0005c0008 others(21): Show a0002c0003 a0003c0002 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0011c0012 a0012c0013 a0014c0015 a0015c0016 a0017c0019 a0018c0018 a0019c0020 a0021c0023 a0022c0022 a0023c0024 a0024c0027 a0025c0026 a0027c0030 a0028c0031 a0029c0032 a0030c0035 a0031c0034 a0032c0033	a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 others(22): Show a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0011c0012t0003 a0012c0013t0011 a0014c0015t0008 a0015c0016t0010 a0015c0016t0012 a0017c0019t0003 a0018c0018t0008 a0019c0020t0010 a0021c0023t0006 a0022c0022t0012 a0023c0024t0010 a0024c0027t0006 a0025c0026t0006 a0027c0030t0011 a0028c0031t0003 a0029c0032t0003 a0030c0035t0009 a0031c0034t0006 a0032c0033t0011	a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 others(76): Show a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0003c0002t0005g0005 a0003c0002t0005g0010 a0003c0002t0005g0014 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0079 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0006c0005t0002g0006 a0006c0005t0002g0016 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0043 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0051 a0007c0006t0003g0053 a0011c0012t0003g0009 a0011c0012t0003g0076 a0012c0013t0011g0082 a0012c0013t0011g0083 a0012c0013t0011g0085 a0012c0013t0011g0086 a0012c0013t0011g0087 a0012c0013t0011g0088 a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0015c0016t0010g0080 a0015c0016t0012g0015 a0017c0019t0003g0017 a0017c0019t0003g0052 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0019c0020t0010g0030 a0019c0020t0010g0031 a0021c0023t0006g0071 a0021c0023t0006g0072 a0021c0023t0006g0073 a0022c0022t0012g0036 a0022c0022t0012g0037 a0022c0022t0012g0038 a0023c0024t0010g0029 a0023c0024t0010g0081 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0027c0030t0011g0089 a0028c0031t0003g0050 a0029c0032t0003g0074 a0030c0035t0009g0060 a0031c0034t0006g0055 a0032c0033t0011g0084	131	208	0.6298	0	c.115 others(3): Show c.115C>T	p.Gln others(3): Show p.Gln39*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	221/1223	115/801	39/266		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584366	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(21): Show a0002 a0003 a0005 a0006 a0007 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032	a0002c0003 a0003c0002 a0005c0008 others(22): Show a0002c0003 a0003c0002 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0011c0012 a0012c0013 a0013c0014 a0014c0015 a0015c0016 a0017c0019 a0018c0018 a0019c0020 a0021c0023 a0022c0022 a0023c0024 a0024c0027 a0025c0026 a0027c0030 a0028c0031 a0029c0032 a0030c0035 a0031c0034 a0032c0033	a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 others(23): Show a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0011c0012t0003 a0012c0013t0011 a0013c0014t0013 a0014c0015t0008 a0015c0016t0010 a0015c0016t0012 a0017c0019t0003 a0018c0018t0008 a0019c0020t0010 a0021c0023t0006 a0022c0022t0012 a0023c0024t0010 a0024c0027t0006 a0025c0026t0006 a0027c0030t0011 a0028c0031t0003 a0029c0032t0003 a0030c0035t0009 a0031c0034t0006 a0032c0033t0011	a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 others(77): Show a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0003c0002t0005g0005 a0003c0002t0005g0010 a0003c0002t0005g0014 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0079 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0006c0005t0002g0006 a0006c0005t0002g0016 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0043 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0051 a0007c0006t0003g0053 a0011c0012t0003g0009 a0011c0012t0003g0076 a0012c0013t0011g0082 a0012c0013t0011g0083 a0012c0013t0011g0085 a0012c0013t0011g0086 a0012c0013t0011g0087 a0012c0013t0011g0088 a0013c0014t0013g0011 a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0015c0016t0010g0080 a0015c0016t0012g0015 a0017c0019t0003g0017 a0017c0019t0003g0052 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0019c0020t0010g0030 a0019c0020t0010g0031 a0021c0023t0006g0071 a0021c0023t0006g0072 a0021c0023t0006g0073 a0022c0022t0012g0036 a0022c0022t0012g0037 a0022c0022t0012g0038 a0023c0024t0010g0029 a0023c0024t0010g0081 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0027c0030t0011g0089 a0028c0031t0003g0050 a0029c0032t0003g0074 a0030c0035t0009g0060 a0031c0034t0006g0055 a0032c0033t0011g0084	136	208	0.6539	0	c.113 others(3): Show c.113G>A	p.Trp others(3): Show p.Trp38*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	219/1223	113/801	38/266		chr6	TogoVar
HNF1A_chr12_120973543_121007512	120994313	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG01071.hp2 HG01081.hp1 others(4): Show HG00735.hp1 HG01071.hp2 HG01081.hp1 HG01934.hp2 HG02148.hp1 HG02615.hp2 NA19030.hp2	a0006 a0006	a0006c0009 a0006c0014 a0006c0009 a0006c0014	a0006c0009t0001 a0006c0009t0004 a0006c0014t0001 a0006c0009t0001 a0006c0009t0004 a0006c0014t0001	a0006c0009t0001g0129 a0006c0009t0004g0059 a0006c0009t0004g0080 others(4): Show a0006c0009t0001g0129 a0006c0009t0004g0059 a0006c0009t0004g0080 a0006c0009t0004g0085 a0006c0009t0004g0087 a0006c0014t0001g0224 a0006c0014t0001g0248	7	410	0.0171	1	c.863 others(8): Show c.863_864insC	p.Pro others(5): Show p.Pro289fs	HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	4/10	1090/3442	864/1896	288/631		chr12	TogoVar
HP_chr16_72049505_72066055	72057480	ACTGAGCA others(1708): Show ACTGAGCACTTAAGAGAGCAGGCAGGCGTCCAGCGGGGAACGTCCTAGAG GCACAGCCTTCCAGTGCGGCTTCCTCTGAGCACACAAGAGCCAGGAGGAG GGATGTGGGAGAACCGCAGCTGGCCAGGGAGAGACTTAAGCAGTTAGGTG ATGACTCCCTAAGGGTCACCAAGGGTCTTGTTCATTGGGGCCTGAAGGGC ACTGGCTGAATCCACTGTCGGCACTGCCCACAGATCAGGAGAGCCTGTGC ATACAGAGAGCCTGCTAGAAAGCCCTGGGTCTAAGGAGAAGCAAGCTCCA GGGAGAACAAGTCAAGGAATGACATAAAATCTTAATCCATGGAAGCCTAG CAGGAGGCTGGACATGGGCTGGAACTCCTGCTTCTCGTTATTAGGAGGAG CTGTTGCTCTCTCCTTTCATTCTCAGAACCAGAGGCAAAGACCCAGCCTC TTCTGCTCTTACTGGTGTGGAAATGCCAACCTGCCTCGTATTAACTGCAC CATCTACAAAATCTGAGCTCCAGCCAGTGCTGCTCTAGATTCATCTTTCT TTAGAGAGAATGAATTATTGTAGCCCCTAGCCCTTTCAATGAATTTCAGG GAATTGTGGAAATTCCTTTATTGGGATAATTGTTTAAAAATAATACAGTT CGCGAGCTTCTATTCGGGGTGGAAGGAGATTGATGTGCAGAGCAGCTCCC GCTCATCTGACTTTTCACGGTTCACTGGGAACAATTTCCAAATAGCAAAC TCTCTGGCTTCTCTCTCTTTGCAGATGACGGCTGCCCGAAGCCCCCCGAG ATTGCACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTA CTACAAACTGCGCACAGAAGGAGATGGTAAGATGTGGACAACTGTCTCCA TGCCCTACATACAACCCCCTTCTCTGACATTTCCATGATGGGTGGTGCTG AGGTGATTCGCCAGAAAGTTCGTTGCTCTCCTTGGAGCCAGGAGATTTAG ATTCTAATAAGCGTTTTGTCGCCAGTAGCCATGGCCCTTTGGGCAGACTA ACTTTTGTCAGCCTCAAGTTTTCTGTTTTGTTAAGGGGAGGCGATGCCAT GCAGCCTACCTCATGTAAATCTCAGAGTCACATTTACATCTCCAGCAGAT GTGGGAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGTGAGTC TTGCTGTCCTGGCACTGCTCTAAGGGCTTTATACTTATTTGCTCACTTAG TCCTCACAGTATCCCTCTGAACAGAGTTTATTGTTTTCACTTTGCTGATA AGGAAACTGAGGCACAGACAGGTTGAGTATCTTGCCCAAATTCAGGCAGC CTGTAAGAGGCAGAGTCAGGATTTGAACCCTGAGCCCTCCCTGTACTGCT TGGCTGTGACCGCCATGACCACAGTGTGTTCTGCTGGGCTTAACTGGCAT CCAGGCACTTGGCTTCCAGCACAGCACTCTTTCCCTTCCTCCTTCTCATA TACTCTCTCCTTTTCCCCTTCCTTTTTGTCCCCTTTTCCTCTTCCTTTTA GTTCTTCTCTTTAAATGCCTTCTCACTCTGCACGGGGTCTAGACTTGACT TCTCCTTTGGCTCACTTCTTGCCTTTTGTTTCAGGAGTGTACACCTTAAA CAATGAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAAT GTGAAGCAGGTGGGTG	A A	exon_loss_variant exon_loss_variant	HIGH	HG00733.hp2 HG00738.hp2 HG01074.hp1 others(55): Show HG00733.hp2 HG00738.hp2 HG01074.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0003 a0003c0003t0008 a0003c0003t0002 a0003c0003t0003 a0003c0003t0008	a0003c0003t0002g0004 a0003c0003t0002g0035 a0003c0003t0002g0040 others(6): Show a0003c0003t0002g0004 a0003c0003t0002g0035 a0003c0003t0002g0040 a0003c0003t0003g0004 a0003c0003t0003g0012 a0003c0003t0003g0027 a0003c0003t0003g0032 a0003c0003t0003g0034 a0003c0003t0008g0004	58	425	0.1365	-1715	c.265 others(15): Show c.265+200_442+192del		HP	ENSG00000257017.10	transcript	ENST00000355906.10	protein_coding	5/7				INFO_REALIGN_3_PRIME	chr16	TogoVar
HRNR_chr1_152207076_152229193	152223252	AT AT	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.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 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.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 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 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 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 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 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 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 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.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 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 a0001	a0001c0001 a0001c0002 a0001c0003 others(208): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0001c0076 a0001c0077 a0001c0078 a0001c0079 a0001c0080 a0001c0081 a0001c0082 a0001c0083 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0092 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097 a0001c0098 a0001c0099 a0001c0100 a0001c0101 a0001c0102 a0001c0103 a0001c0104 a0001c0105 a0001c0106 a0001c0107 a0001c0108 a0001c0109 a0001c0110 a0001c0111 a0001c0112 a0001c0113 a0001c0114 a0001c0115 a0001c0116 a0001c0117 a0001c0118 a0001c0119 a0001c0120 a0001c0121 a0001c0122 a0001c0123 a0001c0124 a0001c0125 a0001c0126 a0001c0127 a0001c0128 a0001c0129 a0001c0130 a0001c0131 a0001c0132 a0001c0133 a0001c0134 a0001c0135 a0001c0136 a0001c0137 a0001c0138 a0001c0139 a0001c0140 a0001c0141 a0001c0142 a0001c0143 a0001c0144 a0001c0145 a0001c0146 a0001c0147 a0001c0148 a0001c0149 a0001c0150 a0001c0151 a0001c0152 a0001c0153 a0001c0154 a0001c0155 a0001c0156 a0001c0157 a0001c0158 a0001c0159 a0001c0160 a0001c0161 a0001c0162 a0001c0163 a0001c0164 a0001c0165 a0001c0166 a0001c0167 a0001c0168 a0001c0169 a0001c0170 a0001c0171 a0001c0172 a0001c0173 a0001c0174 a0001c0175 a0001c0176 a0001c0177 a0001c0178 a0001c0179 a0001c0180 a0001c0181 a0001c0182 a0001c0183 a0001c0184 a0001c0185 a0001c0186 a0001c0187 a0001c0188 a0001c0189 a0001c0190 a0001c0191 a0001c0192 a0001c0193 a0001c0194 a0001c0195 a0001c0196 a0001c0197 a0001c0198 a0001c0199 a0001c0200 a0001c0201 a0001c0202 a0001c0203 a0001c0204 a0001c0205 a0001c0206 a0001c0207 a0001c0208 a0001c0209 a0001c0210 a0001c0211 a0001c0212 a0001c0213 a0001c0214 a0001c0215 a0001c0216 a0001c0217 a0001c0218 a0001c0219 a0001c0220 a0001c0221 a0001c0222 a0001c0223 a0001c0224 a0001c0225 a0001c0226 a0001c0227 a0001c0228 a0001c0229 a0001c0230 a0001c0231	a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 others(209): Show a0001c0001t0002 a0001c0001t0012 a0001c0002t0002 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0009t0007 a0001c0011t0001 a0001c0012t0001 a0001c0013t0005 a0001c0014t0008 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0004 a0001c0020t0001 a0001c0021t0005 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0027t0006 a0001c0028t0006 a0001c0029t0001 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0003 a0001c0039t0004 a0001c0040t0001 a0001c0041t0002 a0001c0042t0002 a0001c0043t0002 a0001c0044t0002 a0001c0045t0002 a0001c0061t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0072t0001 a0001c0073t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0001 a0001c0077t0001 a0001c0078t0001 a0001c0079t0001 a0001c0080t0001 a0001c0081t0001 a0001c0082t0001 a0001c0083t0001 a0001c0084t0001 a0001c0085t0001 a0001c0086t0001 a0001c0087t0001 a0001c0088t0001 a0001c0089t0001 a0001c0090t0001 a0001c0091t0014 a0001c0092t0016 a0001c0093t0001 a0001c0094t0001 a0001c0095t0017 a0001c0096t0001 a0001c0097t0015 a0001c0098t0011 a0001c0099t0001 a0001c0100t0001 a0001c0101t0001 a0001c0102t0001 a0001c0103t0001 a0001c0104t0001 a0001c0105t0001 a0001c0106t0001 a0001c0107t0001 a0001c0108t0001 a0001c0109t0001 a0001c0110t0001 a0001c0111t0001 a0001c0112t0001 a0001c0113t0001 a0001c0114t0006 a0001c0115t0006 a0001c0116t0001 a0001c0117t0001 a0001c0118t0001 a0001c0119t0001 a0001c0120t0001 a0001c0121t0001 a0001c0122t0001 a0001c0123t0001 a0001c0124t0001 a0001c0125t0001 a0001c0126t0001 a0001c0127t0001 a0001c0128t0001 a0001c0129t0001 a0001c0130t0001 a0001c0131t0001 a0001c0132t0001 a0001c0133t0001 a0001c0134t0001 a0001c0135t0001 a0001c0136t0001 a0001c0137t0001 a0001c0138t0001 a0001c0139t0001 a0001c0140t0001 a0001c0141t0001 a0001c0142t0001 a0001c0143t0001 a0001c0144t0001 a0001c0145t0001 a0001c0146t0001 a0001c0147t0001 a0001c0148t0001 a0001c0149t0001 a0001c0150t0001 a0001c0151t0001 a0001c0152t0001 a0001c0153t0001 a0001c0154t0001 a0001c0155t0001 a0001c0156t0001 a0001c0157t0001 a0001c0158t0001 a0001c0159t0001 a0001c0160t0010 a0001c0161t0001 a0001c0162t0001 a0001c0163t0010 a0001c0164t0005 a0001c0165t0001 a0001c0166t0001 a0001c0167t0001 a0001c0168t0001 a0001c0169t0001 a0001c0170t0001 a0001c0171t0001 a0001c0172t0001 a0001c0173t0001 a0001c0174t0001 a0001c0175t0001 a0001c0176t0001 a0001c0177t0001 a0001c0178t0001 a0001c0179t0001 a0001c0180t0001 a0001c0181t0001 a0001c0182t0003 a0001c0183t0003 a0001c0184t0004 a0001c0185t0001 a0001c0186t0002 a0001c0187t0002 a0001c0188t0002 a0001c0189t0002 a0001c0190t0002 a0001c0191t0013 a0001c0192t0002 a0001c0193t0002 a0001c0194t0002 a0001c0195t0002 a0001c0196t0002 a0001c0197t0002 a0001c0198t0002 a0001c0199t0002 a0001c0200t0002 a0001c0201t0002 a0001c0202t0002 a0001c0203t0002 a0001c0204t0002 a0001c0205t0002 a0001c0206t0009 a0001c0207t0002 a0001c0208t0002 a0001c0209t0002 a0001c0210t0018 a0001c0211t0002 a0001c0212t0002 a0001c0213t0002 a0001c0214t0002 a0001c0215t0002 a0001c0216t0002 a0001c0217t0002 a0001c0218t0002 a0001c0219t0002 a0001c0220t0002 a0001c0221t0002 a0001c0222t0002 a0001c0223t0002 a0001c0224t0002 a0001c0225t0002 a0001c0226t0002 a0001c0227t0002 a0001c0228t0005 a0001c0229t0005 a0001c0230t0008 a0001c0231t0005	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0052 others(217): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0002g0193 a0001c0001t0002g0240 a0001c0001t0012g0226 a0001c0002t0002g0001 a0001c0002t0002g0034 a0001c0002t0002g0239 a0001c0003t0003g0003 a0001c0004t0001g0004 a0001c0005t0001g0005 a0001c0007t0001g0007 a0001c0007t0001g0048 a0001c0009t0007g0008 a0001c0011t0001g0009 a0001c0012t0001g0010 a0001c0013t0005g0018 a0001c0013t0005g0182 a0001c0014t0008g0013 a0001c0016t0001g0015 a0001c0017t0001g0016 a0001c0018t0001g0014 a0001c0019t0004g0020 a0001c0020t0001g0021 a0001c0021t0005g0019 a0001c0023t0001g0027 a0001c0024t0001g0028 a0001c0025t0001g0029 a0001c0026t0001g0030 a0001c0027t0006g0031 a0001c0028t0006g0032 a0001c0029t0001g0033 a0001c0030t0001g0035 a0001c0031t0001g0036 a0001c0032t0001g0037 a0001c0033t0001g0038 a0001c0034t0001g0022 a0001c0035t0001g0023 a0001c0036t0001g0024 a0001c0037t0001g0025 a0001c0038t0003g0041 a0001c0039t0004g0040 a0001c0040t0001g0043 a0001c0041t0002g0044 a0001c0042t0002g0042 a0001c0043t0002g0045 a0001c0044t0002g0046 a0001c0045t0002g0047 a0001c0061t0001g0140 a0001c0062t0001g0141 a0001c0063t0001g0142 a0001c0064t0001g0143 a0001c0065t0001g0074 a0001c0066t0001g0075 a0001c0067t0001g0076 a0001c0068t0001g0077 a0001c0069t0001g0078 a0001c0070t0001g0079 a0001c0071t0001g0080 a0001c0072t0001g0053 a0001c0073t0001g0081 a0001c0074t0001g0082 a0001c0075t0001g0083 a0001c0076t0001g0084 a0001c0077t0001g0085 a0001c0078t0001g0086 a0001c0079t0001g0087 a0001c0080t0001g0088 a0001c0081t0001g0089 a0001c0082t0001g0090 a0001c0083t0001g0091 a0001c0084t0001g0092 a0001c0085t0001g0093 a0001c0086t0001g0094 a0001c0087t0001g0095 a0001c0088t0001g0192 a0001c0089t0001g0096 a0001c0090t0001g0097 a0001c0091t0014g0098 a0001c0092t0016g0099 a0001c0093t0001g0100 a0001c0094t0001g0101 a0001c0095t0017g0102 a0001c0096t0001g0103 a0001c0097t0015g0104 a0001c0098t0011g0105 a0001c0099t0001g0106 a0001c0100t0001g0107 a0001c0101t0001g0108 a0001c0102t0001g0109 a0001c0103t0001g0110 a0001c0104t0001g0111 a0001c0105t0001g0112 a0001c0106t0001g0113 a0001c0107t0001g0114 a0001c0108t0001g0115 a0001c0109t0001g0116 a0001c0110t0001g0117 a0001c0111t0001g0118 a0001c0112t0001g0119 a0001c0113t0001g0120 a0001c0114t0006g0121 a0001c0115t0006g0122 a0001c0116t0001g0123 a0001c0117t0001g0124 a0001c0118t0001g0125 a0001c0119t0001g0126 a0001c0120t0001g0049 a0001c0121t0001g0127 a0001c0122t0001g0128 a0001c0123t0001g0129 a0001c0124t0001g0130 a0001c0125t0001g0131 a0001c0126t0001g0132 a0001c0127t0001g0133 a0001c0128t0001g0134 a0001c0129t0001g0135 a0001c0130t0001g0136 a0001c0131t0001g0137 a0001c0132t0001g0138 a0001c0133t0001g0144 a0001c0134t0001g0145 a0001c0135t0001g0146 a0001c0136t0001g0147 a0001c0137t0001g0148 a0001c0138t0001g0149 a0001c0139t0001g0150 a0001c0140t0001g0151 a0001c0141t0001g0152 a0001c0142t0001g0153 a0001c0143t0001g0154 a0001c0144t0001g0155 a0001c0145t0001g0156 a0001c0146t0001g0157 a0001c0147t0001g0158 a0001c0148t0001g0159 a0001c0149t0001g0160 a0001c0150t0001g0161 a0001c0151t0001g0162 a0001c0152t0001g0163 a0001c0153t0001g0164 a0001c0154t0001g0165 a0001c0155t0001g0166 a0001c0156t0001g0167 a0001c0157t0001g0168 a0001c0158t0001g0169 a0001c0159t0001g0170 a0001c0160t0010g0171 a0001c0161t0001g0172 a0001c0162t0001g0173 a0001c0163t0010g0174 a0001c0164t0005g0139 a0001c0165t0001g0056 a0001c0166t0001g0057 a0001c0167t0001g0058 a0001c0168t0001g0059 a0001c0169t0001g0060 a0001c0170t0001g0061 a0001c0171t0001g0062 a0001c0172t0001g0063 a0001c0173t0001g0064 a0001c0174t0001g0065 a0001c0175t0001g0066 a0001c0176t0001g0067 a0001c0177t0001g0068 a0001c0178t0001g0069 a0001c0179t0001g0070 a0001c0180t0001g0071 a0001c0181t0001g0072 a0001c0182t0003g0204 a0001c0183t0003g0187 a0001c0184t0004g0186 a0001c0185t0001g0073 a0001c0186t0002g0205 a0001c0187t0002g0206 a0001c0188t0002g0188 a0001c0189t0002g0189 a0001c0190t0002g0190 a0001c0191t0013g0191 a0001c0192t0002g0207 a0001c0193t0002g0208 a0001c0194t0002g0209 a0001c0195t0002g0210 a0001c0196t0002g0051 a0001c0197t0002g0211 a0001c0198t0002g0212 a0001c0199t0002g0238 a0001c0200t0002g0213 a0001c0201t0002g0214 a0001c0202t0002g0215 a0001c0203t0002g0050 a0001c0204t0002g0216 a0001c0205t0002g0217 a0001c0206t0009g0218 a0001c0207t0002g0219 a0001c0208t0002g0220 a0001c0209t0002g0221 a0001c0210t0018g0241 a0001c0211t0002g0222 a0001c0212t0002g0223 a0001c0213t0002g0224 a0001c0214t0002g0225 a0001c0215t0002g0202 a0001c0216t0002g0227 a0001c0217t0002g0228 a0001c0218t0002g0229 a0001c0219t0002g0230 a0001c0220t0002g0231 a0001c0221t0002g0232 a0001c0222t0002g0233 a0001c0223t0002g0234 a0001c0224t0002g0235 a0001c0225t0002g0236 a0001c0226t0002g0237 a0001c0227t0002g0203 a0001c0228t0005g0183 a0001c0229t0005g0184 a0001c0230t0008g0181 a0001c0231t0005g0185	382	418	0.9139	-1	c.1de others(2): Show c.1delA	p.Met others(3): Show p.Met1fs	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	2/3	77/9629	1/8553	1/2850		chr1	TogoVar
HSD17B13_chr4_87298794_87327882	87310240	T T	TA TA	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(93): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01168.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02165.hp1 HG02280.hp1 HG03239.hp1 HG03491.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18968.hp1 NA18970.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp2 NA19064.hp2 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA20752.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0008 a0007c0010 a0001c0001 a0006c0008 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0006c0008t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0241 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0305 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0353 a0001c0001t0002g0126 a0006c0008t0001g0082 a0006c0008t0001g0085 a0007c0010t0001g0036	96	442	0.2172	1	c.812 others(6): Show c.812+2dupT		HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	6/6					chr4	TogoVar
IFNA13_chr9_21362372_21373057	21368009	A A	G G	start_lost start_lost	HIGH	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(11): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 NA19030.hp1 NA19043.hp2 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0002 a0004c0006t0002 a0002c0002t0002 a0004c0006t0002	a0002c0002t0002g0000 a0004c0006t0002g0000 a0002c0002t0002g0000 a0004c0006t0002g0000	14	466	0.0300	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	IFNA13	ENSG00000233816.4	transcript	ENST00000610660.2	protein_coding	1/1	49/686	2/573	1/190		chr9	TogoVar
IFT27_chr22_36753211_36781119	36762975	G G	A A	stop_gained stop_gained	HIGH	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0115 a0006c0005t0002g0115	1	298	0.0034	0	c.391 others(3): Show c.391C>T	p.Arg others(4): Show p.Arg131*	IFT27	ENSG00000100360.15	transcript	ENST00000433985.7	protein_coding	6/7	803/1073	391/561	131/186		chr22	TogoVar

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