Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RGPD3_chr2_106398406_106473413	106467191	A A	AGAGCGCG others(632): Show AGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCAT CGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCC AGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCC GCAGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGC GCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGG GTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGG AGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAGGCTG CCGCCGCCTGGCCAGGTCGAGGCCGCCGCCGCCGCCTCAACAGAGCGCGC CAGGTAACAGCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGC CGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAG CGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCTCAACA GAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATC GAGGCCGCCGCCGGGCCAGGTCGAGGCCGCCGCCTCAACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0001 a0006c0027t0001	a0006c0027t0001g0173 a0006c0027t0001g0173	1	340	0.0029	639	c.72+ others(654): Show c.72+1025_72+1026insGGTTGAGGCGGCGGCCTCGACCTGGCCCGG CGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTC CCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGCCGGCCTCGACC TGGCCCTGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGCG CTGTTACCTGGCGCGCTCTGTTGAGGCGGCGGCGGCGGCCTCGACCTGGC CAGGCGGCGGCAGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAGG CGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTGGAGGCGG CGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCT CCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGAC CCGGCCCTGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGC GCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGC GGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCT GGCGCGCTC	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(632): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGT TTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTC AATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTG GCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGC TGGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02698.hp2 HG03688.hp2 others(5): Show HG01993.hp2 HG02698.hp2 HG03688.hp2 HG04228.hp1 NA18951.hp1 NA18982.hp2 NA19007.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0028 a0001c0001t0001g0180 a0001c0001t0001g0187 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0373 a0002c0002t0001g0399 a0002c0002t0001g0400 a0002c0002t0002g0074	8	190	0.0421	639	c.684 others(654): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGG CTAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGG CTGGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAA AGTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTT TAATATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCAC TTGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(632): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTG TAATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGA GTTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAT ATTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTC GGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAG TGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAAC TCCGTCTCAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGT TTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTC AATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTG GCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGC TGGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	183	0.0055	639	c.684 others(654): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGA TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCT AATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTT TAATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCAC TTGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(632): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG TTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGT TTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTC AATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTG GCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGC TGGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01978.hp2 HG02055.hp2 others(3): Show HG00597.hp1 HG01978.hp2 HG02055.hp2 HG02145.hp1 HG02897.hp2 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0329 a0001c0001t0001g0356 a0001c0001t0001g0381 others(3): Show a0001c0001t0001g0329 a0001c0001t0001g0356 a0001c0001t0001g0381 a0001c0001t0004g0406 a0001c0004t0001g0208 a0002c0002t0001g0179	6	188	0.0319	639	c.684 others(654): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGC CTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGC TAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGC TGGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAA GTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTT TAATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCAC TTGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SENP7_chr3_101319205_101518212	101439986	G G	GGGAGGGA others(632): Show GGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTTG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGGTCAG CCCCCCCGCCCAGCCAGCTGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGC CGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0119 a0003c0004t0002g0119	1	368	0.0027	639	c.284 others(658): Show c.284+18968_284+18969insTGGACGGGGCGGCTGGCCAGGCAGGG GGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCAGCTG GCTGGGCGGGGGGGCTGACCCCCCCGACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCC CCCACCTCCCTCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(632): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCC CACCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCTCTCCCCTCCCCCCCT CCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCTCCCCTCCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCCTCCCCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0080 a0001c0001t0032g0080	1	40	0.0250	639	c.77- others(656): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCCCACCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCTCTCCCCTCC CCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCTCCC CTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCCTC CCCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCC TCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(632): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCC CACCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCTCTCCCCTCCCCCCCT CCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCTCCCCTCCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCCTCCCCCCC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0012 a0001c0001t0040g0012	1	45	0.0222	639	c.22+ others(656): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCCCACCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCTCTCCCCTCC CCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCTCCC CTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCCTC CCCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCC TCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431776	A A	AATAGGGT others(632): Show AATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAG GGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTA GGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGATGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0228 a0001c0001t0009g0228	1	259	0.0039	639	c.101 others(658): Show c.1014-1182_1014-1181insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGT TAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGATGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGTTAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GTGGGGAG others(632): Show GTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTC AGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAG GGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGT GTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATG GGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGG TCAGGGTGTGGGGAGGGGTCAGGGTGATGGGAAGGGGTCAGGGTTACAAG CATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCAGTGTGATGGAGA GGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG TGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0164 a0002c0001t0003g0164	1	48	0.0208	639	c.257 others(658): Show c.2578-6863_2578-6862insTCACCCTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCC ATCACCCTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACC CCTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCC TCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTG ACCCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTC TCCATCACACTGACACCCCCCCATCACCCTCACCCCTTACCTGTAATGCT TGTAACCCTGACCCCTTCCCATCACCCTGACCCCTCCCCACACCCTGACC CCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCC TGACCCCTCCCCA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(632): Show GGGGGAGCCTCCGGGGGAAGGATCCACGCACGGATCCGGCAGGGGGAGGT GGGCGGGGGAGCCTCCGGGGGATGGATCCACGGGGCAGGGTGGAAGGTGG CGGGGAGCCTCCTGGAAGGATCCACGGGCAGGGGGAGGGTGCGGGGAGCC TCCTGGGGAAGGATCCACGGGGCAGGGGGGAAGGTGGCGGTGGAGCCTCC GGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGA AGGATCCACGGGGCAGGGGGAGTGGCGGGGAGCCTCCGGGGGAAGGATCC ACGGGGCAGGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGCGGGGGAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGGCAGG GGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGT AGGTGGCGGGGAGCCTCCGGGGAAGGATCCACGGGGCAGGGGGAGGTGGA GGGGGGAGCCTCCGGGGAAGGATCCACGGGGCAGGGGGCAGGTGGCGGGG AGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTC CGGGGGAAGGATACCACGGGGGCAGGGGGAGTGGTCGGGC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0034 a0001c0001t0011g0034	1	6	0.1667	639	c.949 others(654): Show c.949+179_949+180insGCCCGACCACTCCCCCTGCCCCCGTGGTAT CCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTGCCCCCTGCCCCGTGGATCCTTCCCCGGA GGCTCCCCCCTCCACCTCCCCCTGCCCCGTGGATCCTTCCCCGGAGGCTC CCCGCCACCTACCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGC CACCTCCCCCCCTGCCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCC CCGCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACTCCCCCTGCCC CGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGA TCCTTCCCCCGGAGGCTCCACCGCCACCTTCCCCCCTGCCCCGTGGATCC TTCCCCAGGAGGCTCCCCGCACCCTCCCCCTGCCCGTGGATCCTTCCAGG AGGCTCCCCGCCACCTTCCACCCTGCCCCGTGGATCCATCCCCCGGAGGC TCCCCCGCCCACCTCCCCCTGCCGGATCCGTGCGTGGATCCTTCCCCCGG AGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(632): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGAGGGAGAA AGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGGG ACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAA GGGGAGGAGGGAGAAGTGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAGG AGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGG GAGAAAGGAGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGAG GAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	2	0.5000	639	c.624 others(654): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTT TCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCACTTCTC CCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCT CCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTC CCCTCCTCCTTTCTCCCTCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCC TCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCA CTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCA CCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(632): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGGAC AAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAAGG GGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAGGA GGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGGG AGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGGAG GAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	2	0.5000	639	c.624 others(654): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCT TTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTC TCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTT CTCCTCTTTTGTCCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCC CCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCC TCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCA CTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCA CCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(632): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATAAAA TATATATAATATATATATTATATATTATATATATTATATATAATATATTA TATATTATATATATTATATATAATATAAATATATTATATATAATATATAT AATATAAATATATTATATATAATATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0157 a0001c0001t0004g0154 a0001c0001t0004g0157	2	133	0.0150	639	c.-70 others(656): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATATTATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATAAT ATATATAATATATAATATATTATATATAATATATATAATATATAATATAT ATATTATATATATTTTATATAATATATATATTATATATATTATATATAAT ATATTTATATTATATATTATATATAATATATTTATATTATATATTATATA TAATATATTTATATTTATATAATATATAATATATTTATATTTATATATAA TATATATAATATATTTATATTTATGTATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAAT ATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(632): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAATATAAATATATTATATATTATATAAATA TAAATATATTATATATAATATATAATATAAATATATTATATATAATATAT AATATAAATATATTATATATAATATATATAATATATATATTATATATAAT ATATATAATATATATATTATATATATTATATATATTATATATAATATAAA TATATTATATATAATATATATAATATAAATATATTATATATAATATATAT AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	132	0.0076	639	c.-70 others(656): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATAATATATATAATATATATAATATA TATATTATATATATTATATATAATATATATATTATATATATTATATATAA TATATTTATATTATATATTATATATAATATATTTATATTATATATTATAT ATAATATATTTATATTTATATAATATATAATATATTTATATTATATATAA TATATATAATATATTTATATTTATGTATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAAT ATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(632): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATATATAAATATAAAT ATATTATATATTATATAAATATAAATATATTATATATAATATATAATATA AATATATTATATATAATATATAATATAAATATATTATATATAATATATAT AATATATATATTATATATAATATATATAATATATATATTATATATATTAT ATATATTATATATAATATAAATATATTATATATAATATATATAATATAAA TATATTATATATATTATATATAATATAAATATATTATATATATTATATAT AATATAAATATATTATATATATTATATATAATATAAATATATTATATATA TTATATATAATATAAATATATTATATATATTATATATAATATAAATATAT TATATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTATATATATTATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0016 a0001c0001t0015g0016	1	132	0.0076	639	c.-70 others(656): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATAAT ATATATAATATATTTATATTATATATATTATATATAATATATTTATATTA TATATAATATATATAATATATATAATATATATATTATATATATTATATAT AATATATATATTATATATATTATATATAATATATTTATATTATATATTAT ATATAATATATTTATATTATATATTATATATAATATATTTATATTTATAT AATATATAATATATTTATATTTATATATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAAT ATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(632): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGA GGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGG AGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCA GAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGG GAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGA GGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGA GGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGG GAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGA GGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGG GGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	639	c.12 others(650): Show c.1221_*1222insTCCCGCCACCCCCTCCCCCTCCCCCTCCTCTCCC CTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTT CCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCT TCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCT CCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCC CCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTC CTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCT CCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCC CCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTC CCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCC CTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCAC CTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCT CCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(632): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGA GGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGG TGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGG GGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGG AAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGG GGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGG GGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGA GGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAG GGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGG AGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	639	c.12 others(650): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCC CCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCC CTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCC TCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCC CCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTC CCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTC CCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTG CCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCC CCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCC CTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(632): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGGAGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAG GGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAA GGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGG AGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	639	c.12 others(650): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCTCCTCCC CTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCC TCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCT CCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCC CTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCC CCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCC TTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTT CCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCT CACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCAC CCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(632): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGCTGGTCTCAGTGGCTCATGCCTGTAATACTTGCATATCTTGGGA TGGCAAGGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGG CAACACACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGG TGCATGCCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCT TGAGCCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACT CCAGCCAAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAG GCCAACCAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTG TCATTTTTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAA ATTTATAACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACA GATTTTGCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0139 a0002c0017t0001g0139	1	98	0.0102	639	c.531 others(658): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGTATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGGGTAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTG TGGTATGATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATC CTCCTGCTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157827465	A A	AATATATT others(632): Show AATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	212	0.0047	639	c.12+ others(654): Show c.12+4019_12+4020insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TAAAATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(632): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTA CAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGA GACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	177	0.0056	639	c.245 others(656): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA AAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTT TTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAG TTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(632): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGGTGGAGTTGCCTGGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	80	0.0125	639	c.64 others(650): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCCGCTGGGCCCCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAAC CCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(632): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGA GTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	80	0.0125	639	c.64 others(650): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAAC CCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(632): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGGG GTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGC CCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGA GTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	80	0.0125	639	c.64 others(650): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCC CGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAA CTCCACCCCCCGCTGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACC CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
THEG_chr19_356747_381026	377288	C C	CCGTGCCC others(632): Show CCGTGCCCCCACCCAGCCTCTCCCCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTACCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTGTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAG CCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	211	0.0047	639	c.-13 others(650): Show c.-1319_-1318insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGG GAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGGGGAGAGGCTGGGTGGGGGCA CGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGACAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGG GGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGG GGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGGGGAGAGGCTGGGTGGGG GCACG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1263		chr19	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(632): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTCATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATATTATATA TTTATATTTTATTTTTATATTTATATTATATATATATTTTTATATTTATA TTTATATATTATTATATTATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATTTCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02015.hp2 NA19057.hp1 HG01978.hp2 HG02015.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0002c0006 a0001c0004 a0002c0001 a0002c0006	a0001c0004t0001 a0002c0001t0010 a0002c0006t0033 a0001c0004t0001 a0002c0001t0010 a0002c0006t0033	a0001c0004t0001g0043 a0002c0001t0010g0117 a0002c0006t0033g0048 a0001c0004t0001g0043 a0002c0001t0010g0117 a0002c0006t0033g0048	3	60	0.0500	639	c.143 others(660): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTCATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATATTATATATTTATA TTTTATTTTTATATTTATATTATATATATATTTTTATATTTATATTTATA TATTATTATATTATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATTTCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474494	A A	AGTGAGGA others(632): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG GGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGAGTGAGTGAGGGGTGGGTGAGGAGGTGAGGGGGTGA GTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGT GAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGA GTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGT GAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGA GTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0186 a0002c0005t0001g0186	1	347	0.0029	639	c.728 others(654): Show c.728-999_728-998insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCTCACTCACTCCCT CACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCA CCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACT CACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCA CTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACT CACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCA CCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACT CACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCA CCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(632): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATAATGTATATATACATGTATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATA TACATTATACATACGTAAATGTATAATGTATATATACATTATACATACGT AAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATA TATACATTATACATACGTAAATGTATAATGTATATATACATTATACATAC GTAAATGTATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02129.hp2 HG00099.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0140 a0001c0001t0002g0113 a0001c0001t0002g0140	2	299	0.0067	639	c.-23 others(656): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTATACATTTACGTATGTATAATGTATATATACATTATA CATTTACGTATGTATAATACATGTATATATACATTATACATTTACGTATG TATAATACATGTATATATACATATATACATTTACGTATGTATAATACATG TATATATACATATATACATTTACGTATGTATAATACATGTATATATACAT ATATACATTTACGTATGTATAATACATGTATATATACATATATACATTTA CGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAA TACATGTATATATACATATATACATTTACGTATGTATAATACATGTATAT ATACATATATACATTTACGTATGTATAATACATGTATATATACATATATA CATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(632): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATAACATG ATGATATGATACTATATCATCATATAACATGATGATATGATACTATATCA TCATATAACATGATGATATGATACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0012 a0001c0001t0050g0012	1	87	0.0115	639	c.41- others(656): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATAACATGATGATAT GATACTATATCATCATATAACATGATGATATGATACTATATCATCATATA ACATGATGATATGATACTATATCATCATATAACATGATGATATGATACTA TATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
ULK1_chr12_131889622_131928150	131917144	G G	GTCGGGTT others(632): Show GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	270	0.0037	639	c.218 others(654): Show c.2182+86_2182+87insGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX3B_chrX_8459830_8471510	8466726	G G	GTGGGGAG others(632): Show GTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0022 a0005c0004t0022	a0005c0004t0022g0009 a0005c0004t0022g0009	1	225	0.0044	639	c.34 others(648): Show c.343_*344insTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG GAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		217		chrX	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(632): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATATTATATTATATATTATAAATAATATATTATAT ATTATATTATATATTATAAATAATATATTATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTATAAATAATA TATTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0042 a0001c0001t0087g0042	1	44	0.0227	639	c.-1- others(656): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATTATAAATAATATATTATATATTATAAATAATATATTATATATAAT ATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(632): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATATTATATTATATATTATAAATGATATATTATAT ATTATATTATATATTATAAATGATATATTATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTATAAATAATA TATAATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	44	0.0227	639	c.-1- others(656): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATATTATATTATATATTAT AAATGATATATTATATATTATATTATATATTATAAATGATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATTATAAATAATATATAATATATTATAAATAATATATTATATATAAT ATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(632): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATGTATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATATTATATTATATATTATAAATAATATATTATAT ATTATATTATATATTATAAATAATATATTATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTAAATA TTATATTATATATTATAAATAATATATTATATATTATATTATAAATAATA TATTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0035 a0001c0001t0102g0035	1	44	0.0227	639	c.-1- others(656): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATGTATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTAAATATTATATTATATATTATAAATAATATATTATATAT TATATTATAAATAATATATTATATATTATAAATAATATATTATATATAAT ATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(632): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATGTATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATATTATATTATATATTATAAATAATATATTATAT ATTATATTATATATTATAAATAATATATTATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTATAAATAATA TATTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02717.hp2 others(2): Show HG01243.hp2 HG01884.hp2 HG02717.hp2 HG02886.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0101	a0001c0001t0001g0003 a0001c0001t0002g0061 a0001c0001t0013g0040 others(2): Show a0001c0001t0001g0003 a0001c0001t0002g0061 a0001c0001t0013g0040 a0001c0001t0013g0060 a0001c0001t0101g0036	5	48	0.1042	639	c.-1- others(656): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATGTATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATATTATATTATATATTAT AAATAATATATTATATATTATATTATATATTATAAATAATATATTATATA TTATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTATATTATATATTATAAATAATATATTATATAT TATATTATAAATAATATATTATATATTATAAATAATATATTATATATAAT ATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(632): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGGGGAGGGAGGTAGGCAGGGAAGG GAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGAAGGGAGGG GAGGGAAGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGG GAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGG AGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGA GCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGGAGGGAGGGAAG GGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAG GGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGG GAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGG AAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGGG AGGGTGGGATGAAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0004 a0012c0033t0004	a0012c0033t0004g0274 a0012c0033t0004g0274	1	72	0.0139	639	c.205 others(658): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCTGC CTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCC TCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTC CCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTTCCCTTCCCTCCCTCCCCTCCCTCCCCT CCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTT CCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCCC TCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(632): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC AAGTATATATATACTTGTATATATATATACAAGTATATATATACTTGTAT ACATATATACTATATATATACATATATACACATATATACGTATATATATG TATATATACATATATACGTGTATATACGTATATACATGTATATACGTATA TATACACATATATACATGTATATATACGTATATATACACATATATACGTG TATATATACGTATATATACACATATATACGTGTATATATACATGTATATA TACACATATATACATGTATATATATACGTATATATACATGTATATATACG TACGTATATATACATGTATATATACGTACGTATATATATACGTATATATA CACATATATACATATATACGTATATATATATACGTATATATACATATATA CGTATATATACATATATACGTATATATATACGTATATATACATATATACG TATATATATATACGTATATATACATATATACATGTATATATATATACGTA TATATACATATATACATGTATATATATATACGTATATACACATATATATA CATGTATATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0173 a0013c0013t0001g0173	1	183	0.0055	639	c.-42 others(650): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACAAGTATATATATACTTGTATATATATATACAAGTA TATATATACTTGTATACATATATACTATATATATACATATATACACATAT ATACGTATATATATGTATATATACATATATACGTGTATATACGTATATAC ATGTATATACGTATATATACACATATATACATGTATATATACGTATATAT ACACATATATACGTGTATATATACGTATATATACACATATATACGTGTAT ATATACATGTATATATACACATATATACATGTATATATATACGTATATAT ACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATAT ATATACGTATATATACACATATATACATATATACGTATATATATATACGT ATATATACATATATACGTATATATACATATATACGTATATATATACGTAT ATATACATATATACGTATATATATATACGTATATATACATATATACATGT ATATATATATACGTATATATACATATATACATGTATATATATATACGTAT ATACACATATATATACATGTATATATATGTGTATATATACATGTATATAT ACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(632): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACATGTATATATACGTACGTATATATACATGTATATATACATGTATA TATACGTACGTATATATACATGTATATATACGTACGTATATATACACATA TATACATGTGTATATATGTGTATATATACACATATATACATGTATATATA TATACGTATATATACATATATACGTATATATATATACGTATATACACATA TATACATGTATATATATATATACGTATATACACATATATATACATGTATA TATATATACGTATATACACATATATATACATGTATATATATATATGTGTA TATATACATGTATATATACACATATATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	212	0.0047	639	c.-42 others(650): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACATGTATATATACGTACGTATATATACATGT ATATATACATGTATATATACGTACGTATATATACATGTATATATACGTAC GTATATATACACATATATACATGTGTATATATGTGTATATATACACATAT ATACATGTATATATATATACGTATATATACATATATACGTATATATATAT ACGTATATACACATATATACATGTATATATATATATACGTATATACACAT ATATATACATGTATATATATATACGTATATACACATATATATACATGTAT ATATATATATGTGTATATATACATGTATATATACACATATATATATATAC ATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ABR_chr17_998519_1184981	1153708	T T	TCCAGGCA others(633): Show TCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGG GCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCT GCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAG GCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAGGGCTGG GGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG GAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCAC ACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGT CCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGG CTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTG CGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGG CACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG AGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGAC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19060.hp2 NA19005.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0116 a0001c0001t0009g0049 a0001c0001t0003g0116 a0001c0001t0009g0049	2	310	0.0065	640	c.61+ others(657): Show c.61+25958_61+25959insGTCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCC TCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATC CCTAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTG CCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG CAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAG CCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGG ACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGG TGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCTAGCCCT CCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCC CCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGC CTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGC AGGTGTGCCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153721	A A	ACGGGAGG others(633): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAG GCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGG GGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGG AGGGCTAGGGATCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACA CCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGGGCTGGGGGT CCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGG CTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTG CGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGG CACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTAGG GATCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGA GGGCTGGGGGTCCAGGCACACCTGCGGGGAGGGCTGGGGGTCCAGGCACA CCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTC CAGGCACACCTGCGGGAGGGCTGGGGACCCAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0010 a0001c0014t0010	a0001c0014t0010g0308 a0001c0014t0010g0308	1	240	0.0042	640	c.61+ others(657): Show c.61+25945_61+25946insCAGGTGTGCCTGGGTCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCT GGACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAG GTGTGCCTGGATCCCTAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCC TCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACC CCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTG CCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG CAGGTGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTG GATCCCTAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGG TGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCT CCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCC CCAGCCCTCCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTRT2_chr1_3016467_3027903	3016686	A A	AGGGACGG others(633): Show AGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGG AGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGAAGGGAAGG AGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGG AGGAGGGAGGGAGGGAAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGA GAGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGA AGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAATGGAGGAAGGAGGATGGG AACAGGGGAGGGAGAGAAGGAGGAAGGAAGGAGGGAAGGAGATACGTAGG AAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGGAAGGAAGGAGGGAGGAAG GGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAA GGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGAAGGTAAGGAGGGAGGA GGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAGGAGAGGGAGGGAGGT GGGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03225.hp2 NA18906.hp2 others(1): Show HG01109.hp1 HG03225.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	13	0.3077	640	c.-50 others(651): Show c.-5001_-5000insGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGA GGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGG AGGGAGGAGGGAGGGAGGAGGGAGGGAGGGAAGGAGGGAGGGAGGAGGGA GGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGA AGGAGGGAGGGAGGAGAGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAAGG AGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAATGG AGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGGAGGG AAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGGAAG GAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGG GGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGAA GGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAG GAGAGGGAGGGAGGTGGGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGG GGAAGC	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4780		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3016686	A A	AGGGACGG others(633): Show AGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGG AGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGAAGGGAAGG AGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGG AGGAGGGAGGGAGGGAAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGGAAGGAGGGAGGGAGGA GGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGA AGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAATGGAGGAAGGAGGATGGG AACAGGGGAGGGAGAGAAGGAGGAAGGAAGGAGGGAAGGAGATACGTAGG AAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGGAAGGAAGGAGGGAGGAAG GGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAA GGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGAAGGTAAGGAGGGAGGA GGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAGGAGAGGGAGGGAGGT GGGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	10	0.1000	640	c.-50 others(651): Show c.-5001_-5000insGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGA GGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGG AGGGAGGAGGGAGGGAGGAGGGAGGGAGGGAAGGAGGGAGGGAGGAGGGA GGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGGA AGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAAGG AGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAATGG AGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGGAGGG AAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGGAAG GAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGG GGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGAA GGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAG GAGAGGGAGGGAGGTGGGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGG GGAAGC	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4780		chr1	TogoVar
AHRR_chr5_316714_443285	344782	G G	GGGCTGTG others(633): Show GGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGTGCTGGGGGAG CTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGG GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGCGCGGGGGGAGCTG TGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGT GTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGGGGTGTGTG TGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGT GTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTGTGG GGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGA GCTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGG GTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGG GTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTG AGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGGGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02109.hp2 HG02145.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0021 a0006c0006t0021	a0006c0006t0021g0245 a0006c0006t0021g0246 a0006c0006t0021g0245 a0006c0006t0021g0246	2	265	0.0075	640	c.62+ others(653): Show c.62+819_62+820insGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGT GTGTGTGCTGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGT GGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGG GAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTG TGCGCGGGGGGAGCTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGG GCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCT GTGTGTGGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGT GTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGT GTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTG GGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGG AGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGT GGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTG GGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(633): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATGTATAA ATACGTACATATTTATACATATATGTATAAATACATATACATATTTATAC ATATATGTATAAATACATATACATATTTATACATATATGTATAAATACAT ATACATATTTATACATATATGTATAAATACATATACATATATGTATAAAT ACATATACATATTTATACATATATGTATAAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0005 a0001c0001t0032g0005	2	210	0.0095	640	c.39 others(649): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT ATGTATAAATACGTACATATTTATACATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACATATTTATACATATATGTATAAATACATATACATATTTAT ACATATATGTATAAATACATATACATATATGTATAAATACATATACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP19_chr10_97217179_97297637	97251782	A A	AAGGGTTG others(633): Show AAGGGTTGGGAAGGGGAAGGGTTGGAAGGGTTGGGAGGGGTAGGGATGGG GTAGGTTGGGTTGGGATTGGGTTGGGTTGGAAAGGGGAAAGGGAAGGGGA AAAGGAAGGGAAGGGGAAGGGAAGGGAATGGAGAAGGGGAAATGGAAGGG ATGGGCTAGGGGAAGGGATGGTTGGTTGGGGTTTTGGTTGGGTTGGGTTT TGGTTGGGTTGGTTGGGGTTGGGGTTTTGGGTTGTTTGGAGGGGAAGGGA ATGGGTTGGTTGGGAATGGGAAGGGAATGGAAGGGAAAGGGATTGGGATG GGGAAGGGGAAGGGGAAGGGAAGGGGAGGGGGAAGGGAAGGGGAAGGGAA AAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAA GGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTA GCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGG GAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAGAGAGGGGAGGG GAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	237	0.0042	640	c.927 others(657): Show c.927+4535_927+4536insCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCC CTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTC CTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCCTCCCCTTCCCTTCC CCTTCCCCTTCCCCATCCCAATCCCTTTCCCTTCCATTCCCTTCCCATTC CCAACCAACCCATTCCCTTCCCCTCCAAACAACCCAAAACCCCAACCCCA ACCAACCCAACCAAAACCCAACCCAACCAAAACCCCAACCAACCATCCCT TCCCCTAGCCCATCCCTTCCATTTCCCCTTCTCCATTCCCTTCCCTTCCC CTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCAACCCAACCCAATCC CAACCCAACCTACCCCATCCCTACCCCTCCCAACCCTTCCAACCCTTCCC CTTCCCAACCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP10A_chr15_25673712_25868327	25757928	C C	CCACCTGC others(633): Show CCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATT CCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGATCACCTGC TCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACC ACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGA CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCC GATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0247 a0007c0015t0001g0247	1	249	0.0040	640	c.655 others(659): Show c.655-21788_655-21787insATCGGAATGAGGGTGGAGCAGGTGGT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGG GTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGA ATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGGTGGTCG GAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGG GTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGA GGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(633): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	2	300	0.0067	640	c.36 others(651): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(633): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02273.hp1 HG01934.hp2 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0003 a0001c0002t0001g0004	2	300	0.0067	640	c.36 others(651): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(633): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	299	0.0033	640	c.36 others(651): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(633): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGG AGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGA GCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGC GGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGG GAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGA GGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02683.hp1 HG02647.hp2 HG02683.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0017 a0001c0012t0001g0028 a0001c0012t0001g0017 a0001c0012t0001g0028	2	9	0.2222	640	c.-70 others(649): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAA GGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGG GGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGG GAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGA AGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGG GAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar

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