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
SBNO2_chr19_1102638_1179268	1166045	T T	TCCCAGAC others(467): Show TCCCAGACCCCAAGATCCCAGACCCAGATCCTAGACCCCAGACCTCAGAC CCCAGATCTCAGACCCCAGATCCCAGACCCCAGATCTCAGACCCCAGATC CCAGACCCCAGATCCTAGATCTCAGACCCCAGATCTCAGACCCCAGACCC CAGATCCCAGACCCCAAGATCCCAGACCCCAGATCCTAGATCCCAGACCT CAGACCCCAGATCTCAGACCCCAGATCTCAGACCCCAGATCCCAGATCCC AAAACCCAGACCCCAGACCTCAGACCTCAGACCCCCAGACCCCAGATCCC AGACCCCAGACCTCAGACCCCAGATCCCAGACCCCAGATCACCAGATCTC AGACCCCAGACCCCAGATCCCAGACTTCAGATCCCTAGACCTCAGACCCC AGACCCCAGATCCCAGACCCCAAACCTCAGACCCCAGATCCCAGACCCCA GATCACCAGATCTCAGACCCCAGAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0011 a0001c0007t0001g0011	1	12	0.0833	474	c.-12 others(493): Show c.-127+8126_-127+8127insGTCTGGGGTCTGAGATCTGGTGATCT GGGGTCTGGGATCTGGGGTCTGAGGTTTGGGGTCTGGGATCTGGGGTCTG GGGTCTGAGGTCTAGGGATCTGAAGTCTGGGATCTGGGGTCTGGGGTCTG AGATCTGGTGATCTGGGGTCTGGGATCTGGGGTCTGAGGTCTGGGGTCTG GGATCTGGGGTCTGGGGGTCTGAGGTCTGAGGTCTGGGGTCTGGGTTTTG GGATCTGGGATCTGGGGTCTGAGATCTGGGGTCTGAGATCTGGGGTCTGA GGTCTGGGATCTAGGATCTGGGGTCTGGGATCTTGGGGTCTGGGATCTGG GGTCTGGGGTCTGAGATCTGGGGTCTGAGATCTAGGATCTGGGGTCTGGG ATCTGGGGTCTGAGATCTGGGGTCTGGGATCTGGGGTCTGAGATCTGGGG TCTGAGGTCTGGGGTCTAGGATCTGGGTCTGGGATCTTGGGGTCTGGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1289928	C C	CCGTGTCC others(467): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	259	0.0039	474	c.166 others(491): Show c.1663-342_1663-341insGTGTCCCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GAGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGAGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	C C	CCGTGTCT others(467): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	226	0.0044	474	c.166 others(491): Show c.1663-142_1663-141insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339807	C C	CACGCTCC others(467): Show CACGCTCCTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTAC TCTCCTCACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCT CCTCACTATCCCCCCACAAGCATCACTCCAACCCTCCCCCACTCTCCTCA TTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATT CTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCT ATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACC CCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACCCCC CCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCC CCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCC ACAAGCATTGCTCCAACCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0035 a0002c0002t0002g0035	1	157	0.0064	474	c.89- others(487): Show c.89-573_89-572insAGGGGAGGGTTGGAGCAATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGGT AGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTA GAATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAA TGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGA GGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGG AGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGGAG AGTGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAG GGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGG AGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SLA2_chr20_36607318_36651196	36642169	A A	AAAAAAAA others(467): Show AAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGCTT GAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTATTGG TGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTGAG ATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACTTA ATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGGAG TTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGAAA CCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCTATT CGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGATGG AGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCAGC CCAGGCAAGAGTGAGACGCTGTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	354	0.0028	474	c.-43 others(489): Show c.-43-792_-43-791insGAGACAGCGTCTCACTCTTGCCTGGGCTGG AGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCATC TCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATAG CTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTTCT TTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCCT AAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAGT GCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCAG CAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAAT AACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGCC TGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(467): Show CTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCAC CTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02148.hp1 NA18939.hp2 HG00558.hp2 HG02148.hp1 NA18939.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0017 a0002c0006t0001 a0002c0006t0009 a0001c0001t0017 a0002c0006t0001 a0002c0006t0009	a0001c0001t0017g0045 a0002c0006t0001g0125 a0002c0006t0009g0126 a0001c0001t0017g0045 a0002c0006t0001g0125 a0002c0006t0009g0126	3	91	0.0330	474	c.688 others(491): Show c.688-2442_688-2441insACCTCCTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCAC CTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(467): Show CTCCTCCTCCACCTCTTCCTCCTCCTCCTCCACCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCTACCTCCTGCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCAC CTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0009 a0007c0015t0009	a0007c0015t0009g0144 a0007c0015t0009g0144	1	89	0.0112	474	c.688 others(491): Show c.688-2442_688-2441insACCTCTTCCTCCTCCTCCTCCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCAC CTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CACTTCCT others(467): Show CACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCT ACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTC CTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCAC CTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0086 a0001c0004t0001g0086	1	89	0.0112	474	c.688 others(491): Show c.688-2427_688-2426insACTTCCTCCTCCACCTCCTCCTCTACCT CCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16			chr20	TogoVar
SLC2A8_chr9_127392169_127412898	127408233	C C	CCACTGTA others(467): Show CCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCCAACCCCACCCCCG CAAAAAAAAAAAAAAAAAAAATTTCAGTTCTATCTTGAAAGATCTCACTT CCAACACACATGCTGTCTAGCAACACTAAGTAGAGGGGACCATTCTTCCC AACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAGCCCCAGCACCTGC CCACCTTGGCATCTCCCATTAAGTCACATAATGAGGGCAGAGAGCAGGGG CCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCAGGCAGAGCAAGGC GCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCTGCTCTGATTTCAG TGAAATGTGTGAAACCATGCACAGGACTTTGGACAACTCTCAGCTGTAGC AAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGTCCTGTCTCCGCGC AGGAGCATCTCCCGTGGCAATGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	238	0.0042	474	c.98 others(483): Show c.984_*985insCACTGTACTCCAGCCTGGGAGACAGAACAAGACCCC AACCCCACCCCCGCAAAAAAAAAAAAAAAAAAAATTTCAGTTCTATCTTG AAAGATCTCACTTCCAACACACATGCTGTCTAGCAACACTAAGTAGAGGG GACCATTCTTCCCAACTCACGGCTGCTTTGTCCACTTCCCAGACCTGCAG CCCCAGCACCTGCCCACCTTGGCATCTCCCATTAAGTCACATAATGAGGG CAGAGAGCAGGGGCCTGTTTTTGCGGACACTTGAAGTACAGCATGGACCA GGCAGAGCAAGGCGCCGGATCAGATCAGTTCCAGAAGATATGCAGCAGCT GCTCTGATTTCAGTGAAATGTGTGAAACCATGCACAGGACTTTGGACAAC TCTCAGCTGTAGCAAATCCAGTTTCCCCTTGGGCCTTCCAGAAGCAGGGT CCTGTCTCCGCGCAGGAGCATCTCCCGTGGCAATGGCT	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		336		chr9	TogoVar
TBC1D22A_chr22_46757650_47180693	46772364	T T	TACACATA others(467): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACACACATATATA TGTATACACACACACATATATATGTATACACACACATATATATGTATACA CACACATATATATGTATACACACACATATATATGTATACACACATACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	104	0.0096	474	c.62+ others(489): Show c.62+9517_62+9518insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACACACATATATATGTATACACACACACATATATATGTATACACA CACATATATATGTATACACACACATATATATGTATACACACACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628136	G G	GGGGACAG others(467): Show GGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACAGGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGGTGAGGCGGGAAA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0142 a0003c0006t0001g0142	1	343	0.0029	474	c.299 others(489): Show c.299-711_299-710insTTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGTTCTGCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTT CTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628254	C C	CGGGGGTG others(467): Show CGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGCAGAACTCACA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0174 a0001c0002t0001g0174	1	192	0.0052	474	c.299 others(489): Show c.299-829_299-828insTGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628596	A A	ATGGGGAT others(467): Show ATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGG AAGGGGACAGCAGAGCTCATGGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGTGGGGCG GGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGA GCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCATGGGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGC AGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTG GGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACA GCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGT GAGGCGGGAAAGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp1 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0132 a0001c0002t0002g0133 a0001c0002t0001g0132 a0001c0002t0002g0133	2	331	0.0060	474	c.299 others(491): Show c.299-1171_299-1170insAGTTCTGCTGTCCCTTTCCCGCCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGT CCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGC CCCACCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCCATGAGCTCTGCTGTCCCCTTCCC GCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THEG_chr19_356747_381026	377105	C C	CCCCTGTG others(467): Show CCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCC CACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTACCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0284 a0003c0003t0001g0284	1	209	0.0048	474	c.-11 others(485): Show c.-1136_-1135insAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG GAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACGGG GGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1080		chr19	TogoVar
THEG_chr19_356747_381026	377606	G G	GCCCCACC others(467): Show GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCACCCAGCCTCT CCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	309	0.0032	474	c.-16 others(485): Show c.-1637_-1636insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGG GTGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1581		chr19	TogoVar
TMEM242_chr6_157284025_157328519	157311495	T T	TGGCCGCA others(467): Show TGGCCGCATCATAGTGCCCCAGTGTACACTCACCTGGCCTCCTCATAGTG CCCCAGTGAGCACTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCA CCTAGCCTCATCATAGTGCCCCAGTCTGCACTCAAGCAGCCTCATCAGAG TGTCGCAGTGCGCTCACCTAGCCTCATCAGAGTGCCCCAGTGTCCGCTCA CCTAGCCTCATCATACTGTCTCAGTGTGAGCTCACCTAGCCTCATCATAG TGTCCCAGTCTGCGCTCACCTAGCCTCATCATAGTGCCCCAGGGTGCACT CACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCAT AGTATCCCAGAGTGCGCTCACCGAGCCTCATCATAGTGTCCCAGTGTGCG CTCACCGAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGGCCTAGTC ATAGTGCCCCAGTGTGCACTCACGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0297 a0001c0001t0003g0297	1	255	0.0039	474	c.327 others(491): Show c.327+7286_327+7287insGCGTGAGTGCACACTGGGGCACTATGAC TAGGCCGGGTGAGCGCACACTGGGACACTATGATGAGGCTCGGTGAGCGC ACACTGGGACACTATGATGAGGCTCGGTGAGCGCACTCTGGGATACTATG ATGAGGCCAGGTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGT GCACCCTGGGGCACTATGATGAGGCTAGGTGAGCGCAGACTGGGACACTA TGATGAGGCTAGGTGAGCTCACACTGAGACAGTATGATGAGGCTAGGTGA GCGGACACTGGGGCACTCTGATGAGGCTAGGTGAGCGCACTGCGACACTC TGATGAGGCTGCTTGAGTGCAGACTGGGGCACTATGATGAGGCTAGGTGA GTGCACACTGGGGCACTATGATGAGGCTAGGTGAGTGCTCACTGGGGCAC TATGAGGAGGCCAGGTGAGTGTACACTGGGGCACTATGATGCGGCC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313214	G G	GCACTCAC others(467): Show GCACTCACCTAGACTCATCATAATGCCCCAGTATCCGCTCACCTAGCCTC ATCATAGTTTCCCAGTGAGCGCTCACCCGGCCTCATCATACTGCCCACTC TGCGCTCACCCGGCATCATCATAGTGTCCCACTGTGCGCTCACCTGGCCA CATCATACTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAG TGTGCGCTCACCTAGCCTCATCATAGTGCCCCAGTGTGCGCTCACCTGGC CTCATCATAGTGCCCCAGTGTGCATTCACCTAGCCTCATCATAGTGCCCC AGTGTGCACTCACCTAGCCTCATTATAGTGTCCCAGTGTGCGCTCACCCG ACCTCATCATAGTGCCCCAGTGTGCACTCAGGTACCTCATCATAGTGTCC CAGTGTGCACTCACCCGGCCTCCTCATAGTGTTCCAGTGTGCGCTCACCC AGCCTCGTCATAGTGCCCCAGTGCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	141	0.0071	474	c.327 others(491): Show c.327+5567_327+5568insAGCACTGGGGCACTATGACGAGGCTGGG TGAGCGCACACTGGAACACTATGAGGAGGCCGGGTGAGTGCACACTGGGA CACTATGATGAGGTACCTGAGTGCACACTGGGGCACTATGATGAGGTCGG GTGAGCGCACACTGGGACACTATAATGAGGCTAGGTGAGTGCACACTGGG GCACTATGATGAGGCTAGGTGAATGCACACTGGGGCACTATGATGAGGCC AGGTGAGCGCACACTGGGGCACTATGATGAGGCTAGGTGAGCGCACACTG GGACACTATGATGAGGCTAGGTGAGCGCACACTGGGACAGTATGATGTGG CCAGGTGAGCGCACAGTGGGACACTATGATGATGCCGGGTGAGCGCAGAG TGGGCAGTATGATGAGGCCGGGTGAGCGCTCACTGGGAAACTATGATGAG GCTAGGTGAGCGGATACTGGGGCATTATGATGAGTCTAGGTGAGTG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TNFRSF6B_chr20_63691652_63703684	63693732	T T	TCCACCAC others(467): Show TCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCAC CACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCA CCTCCACCTCCACCACCTCCACCACCACCACCTCCACCACCACCTCCACC ACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCAC CACCTCCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCTCCA CCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACC TCCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCACCACCTC CACCTCCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCA CCACCTCCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACC TCCACCACCACCTCCTCCACCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	474	c.-30 others(485): Show c.-3036_-3035insCCACCACCACCACCTCCACCACCACCACCACCAC CACCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCTCCACCT CCACCACCACCACCACCTCCACCTCCACCACCTCCACCACCACCACCTCC ACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCAC CTCCACCACCACCACCACCTCCACCACCACCTCCACCTCCACCACCACCT CCACCACCACCTCCACCACCTCCACCACCTCCACCACCACCACCTCCACC TCCACCACCTCCACCTCCACCTCCACCACCACCTCCACCACCTCCACCAC CACCACCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCTCCA CCTCCACCACCTCCACCACCTCCACCACCACCTCCACCACCTCCACCACC ACCTCCACCACCACCTCCACCACCACCTCCTCCACCTCCA	TNFRSF6B	ENSG00000243509.6	transcript	ENST00000369996.3	protein_coding		2919		chr20	TogoVar
TRAPPC12_chr2_3374694_3484565	3437768	T T	TCACCCCA others(467): Show TCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCC AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCT GGTTTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGAT TAATACCCCATCACCCCTGAATTAATCCCCCCACCACCCCTGGATTAATC CCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATGCCCC ATCACCCCTGAATTAATCCCCCCAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02630.hp1 HG01106.hp2 HG02630.hp1	a0002 a0002	a0002c0007 a0002c0027 a0002c0007 a0002c0027	a0002c0007t0001 a0002c0027t0001 a0002c0007t0001 a0002c0027t0001	a0002c0007t0001g0023 a0002c0027t0001g0025 a0002c0007t0001g0023 a0002c0027t0001g0025	2	248	0.0081	474	c.141 others(493): Show c.1418-6005_1418-6004insAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCAC CCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCA GGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTA ATCCCCCCATCACCCCTGGTTTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCACCCCAGGATTAATACCCCATCACCCCTGAATTAATCCCCCCA CCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAC CCCTGGATTAATGCCCCATCACCCCTGAATTAATCCCCCCACCACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPC4AP_chr20_34997404_35097807	35097621	A A	ATATACAT others(467): Show ATATACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATAC ATATACACGCGTGCGTGTATAGACATATACACGCGTGCGTGTATAGACAT ATACACGCGTGCGTGTATAGACATATACACGCGTGCGTGTATAGACATAT ACACGCGTGCGTGTATAGACATATACACGCGTGCGTGTATAGACATATAC ACGCGTGCGTGTATAGACATATACACGCGTGCGTGTATAGACATATACAC GCGTGCGTGTATAGACATATACACGCGTGCGTGTATAGACATATACACGC GTGCGTGTATAGACATATACACGCGTGCGTGTATAGACATATACACGCGT GCGTGTATAGACATATACACGCGTGCGTGTATAGACATATACACGCGTGC GTGTATAGACATATACACGCGTGCGTGTATAGACATATACACGCGTGCGT GTATAGACATATACACGCGTGCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	239	0.0042	474	c.-48 others(485): Show c.-4841_-4840insCACGCACGCGTGTATATGTCTATACACGCACGCG TGTATATGTCTATACACGCACGCGTGTATATGTCTATACACGCACGCGTG TATATGTCTATACACGCACGCGTGTATATGTCTATACACGCACGCGTGTA TATGTCTATACACGCACGCGTGTATATGTCTATACACGCACGCGTGTATA TGTCTATACACGCACGCGTGTATATGTCTATACACGCACGCGTGTATATG TCTATACACGCACGCGTGTATATGTCTATACACGCACGCGTGTATATGTC TATACACGCACGCGTGTATATGTCTATACACGCACGCGTGTATATGTCTA TACACGCACGCGTGTATATGTCTATACACGCACGCGTGTATATGTCTATA CACGCACGCGTGTATATGTCTATACACGCACGCGTGTATATGTATATACG CACGCGTGTATATGTATATACGCACGCGTGTATATGTATA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4815		chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(467): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTC CCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCC CCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCC CCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC CCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCC TTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCC CCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0034 a0002c0003t0002g0034	1	8	0.1250	474	c.657 others(489): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTC CCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCC CCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTC CCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTC CTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCC CTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCC TTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCT CCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCTTC others(467): Show TTCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCT TCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCT CTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTT ATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCC TTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCC CCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	8	0.1250	474	c.657 others(489): Show c.657+441_657+442insTCCTCCCTCCCCCCTTCCTCCCTCCCCCCT TCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTC CCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCCT	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870207	A A	ACACCCCA others(467): Show ACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACACA CCACACACCACACACACCCCACACACACCACACCCCACACACACCACACA CCCCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCATACACACCACACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCCCACACACCACACACCCCACACACACCA CACCCCACACACACCACACACACACCACACCCCACACACACCACACACCC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CATACACACCACACCCCATACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	309	0.0032	474	c.35 others(493): Show c.35+21477_*35+21478insCCCACACACACCACACAAACCACACA CCCTACACACCCCACACACACCACACACCACACACACCCCACACACACCA CACCCCACACACACCACACACCCCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCATACACACCACACACCCCACACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCCCACACAC CACACACCCCACACACACCACACCCCACACACACCACACACACACCACAC CCCACACACACCACACACCCCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCATACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355861	A A	ATATACGC others(467): Show ATATACGCATATACACACGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT GTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACAT ATGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACAT ATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACAC ATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACAC ACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATAC ACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	200	0.0050	474	c.-38 others(485): Show c.-3855_-3854insTATACGCATATACACACGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTA TACGCATACACACATATGTGTGTATACGCATACACACATATGTGTGTGTA TACGCATACACACATATGTGTGTGTATACGCATACACACATATGTGTGTG TATACGCATACACACATATGTGTGTGTATACGCATACACACATATGTGTG TGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATGTG TGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTG	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3738		chr11	TogoVar
UNC5C_chr4_95157504_95553973	95196961	T T	TATATATT others(467): Show TATATATTATATTTATGTAATATATAATATATATTATATATTATATTTAT GTAATATATAATATATATTATATATTATATTTATGTAATATATAATATAT ATTATATATTATATTTATGTAATATATAATATATATTTATATATTATATT TATGTAATATATAATATATATTTATATATTATATTTATGTAATATATAAT ATATATTTATATATTATATTTATGTAATATAATATATTTATATATTATAT TTATGTAATATATAATATATATTTATATATTATATTTATGTAATATATAA TATATATTTATATATTATATTTATGTAATATATAATATATATTTATATAT TATATTTATGTAATATATAATATATATTTATATGTTATATTTATGTAATA TATAATATATATTTATATGTTATATTTATGTAATATATAATATATATTTA TATATTATATTTATGTAATATATAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0191 a0001c0003t0003g0191	1	204	0.0049	474	c.213 others(493): Show c.2136+5769_2136+5770insTTATATATTACATAAATATAATATAT AAATATATATTATATATTACATAAATATAACATATAAATATATATTATAT ATTACATAAATATAACATATAAATATATATTATATATTACATAAATATAA TATATAAATATATATTATATATTACATAAATATAATATATAAATATATAT TATATATTACATAAATATAATATATAAATATATATTATATATTACATAAA TATAATATATAAATATATTATATTACATAAATATAATATATAAATATATA TTATATATTACATAAATATAATATATAAATATATATTATATATTACATAA ATATAATATATAAATATATATTATATATTACATAAATATAATATATAATA TATATTATATATTACATAAATATAATATATAATATATATTATATATTACA TAAATATAATATATAATATATATTATATATTACATAAATATAATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VCX_chrX_7838171_7849143	7844370	A A	AGGGAGGG others(467): Show AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	150	0.0067	474	c.35 others(483): Show c.354_*355insGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		228		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253208	T T	TCCCCCTC others(467): Show TCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCT CCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTC CTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCC CCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTC CCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTC CCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCT CCCCTCTCCCCCCTCCCCCTCCCCC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0127 a0004c0004t0004g0127	1	228	0.0044	474	c.53- others(487): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCC TCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCC TCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCC CTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTC CCTTCCCCCTCCCTCTCCCCTCTCCCCCCTCCCCCTCCCCCC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR87_chr19_37879823_37911594	37881029	T T	TATATATA others(467): Show TATATATATTATATATATATATAATATATATATATTATATATATAATATA TATATATAATATATATATTATATATATAATATATATATAATATATATATA TTATATATATAATATATATAATATATATATAATATATATATATTATATAT ATATTATATATATTATATATATTATATATATATTATATATATATTATATA TATATAATATATATAATATATATATTATATATATTATATATATAATATAT ATTATATATATAATATATATTTAATATATATATTATATATATAATATATA TTATATATATAATATATATATTTAATATATATTATATATATAATATATAT ATTATATATATAATATATATATAATATATATATTATATATATTATATATT ATATATATATAATATATATATTTAATATATATATTATATATATAATATAT ATTATATATATAATATATATATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0033 a0003c0004t0001g0033	1	322	0.0031	474	c.39 others(485): Show c.3902_*3903insTAAATATATATATTATATATATAATATATATTAT ATATATAATATATATATTAAATATATATATTATATATATATAATATATAA TATATATAATATATATATTATATATATATTATATATATAATATATATATT ATATATATAATATATATTAAATATATATATTATATATATAATATATATTA TATATATAATATATATATTAAATATATATTATATATATAATATATATTAT ATATATAATATATATAATATATATATTATATATATTATATATATATAATA TATATATAATATATATATAATATATATAATATATATAATATATATATAAT ATATATATATTATATATATATTATATATATTATATATATAATATATATAT ATTATATATATATTATATATATAATATATATATTATATATATATATTATA TATATAATATATATATATTATATATATATATAATATATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3793		chr19	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCTTC others(467): Show CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCA TTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCACCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCTCCCTTTCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0227 a0001c0001t0016g0227	1	182	0.0055	474	c.-10 others(491): Show c.-10-3220_-10-3219insTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCCTTCCCCCATTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCACCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCTC CCTTTCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(467): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATGTCATATAT ATCATATATATGATATATATCATATATCATATATATGATATATATCATAT ATCATATATATGATATATATCATATATCATATATATGATATATATCACAT ATATATATCATATATATCACATATATATCATATATATCATATATATATCA TATATATGATATATATCATATATATATCATATATATGATATATATCATAT ATATCACATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0001 a0002c0002t0017g0001	1	223	0.0045	474	c.-34 others(485): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATGTCATATATATCATATATATGATATATATCATATATCATATATA TGATATATATCATATATCATATATATGATATATATCATATATCATATATA TGATATATATCACATATATATATCATATATATCACATATATATCATATAT ATCATATATATATCATATATATGATATATATCATATATATATCATATATA TGATATATATCATATATATCACATATATATCATATATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(468): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG AGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAA GGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGA GGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0001 a0004c0028t0001	a0004c0028t0001g0155 a0004c0028t0001g0155	1	25	0.0400	475	c.259 others(496): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCC CTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCC CTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCAT CTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCC C	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(468): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GAGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGG AGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGATGGGAG GGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGA GAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAA GGCGAGGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0016 a0003c0003t0016	a0003c0003t0016g0316 a0003c0003t0016g0316	1	226	0.0044	475	c.248 others(490): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCTCGCCTTCC CCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCAC CTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCC CATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCA CCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCCTCTCCTCA CCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTCCCC TCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCAC TCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCA CTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCTCCCCCTCCCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGCG others(468): Show AAGGGGCGGGGGAGGTGAGGGGAGGGGGGGAGGAGGAGGTGAGGGGAGTG GAAGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGT GGACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGG GGAAGGTGAGGGGAGGAGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGGA GGGGGAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGGAAGG TGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGAGGGGAGGGGGAGGGT GGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGATGG GAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCG AGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGG AGGCGAGGGGAGGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0270 a0002c0002t0007g0270	1	226	0.0044	475	c.248 others(490): Show c.2483+82_2483+83insCCCCTCCCCTCCCCCTCCCCTCGCCTCCCC CTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCC TTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCAT CCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCC TCCCCCTCCCCTCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCACCTT CCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCCCTCCC CCTCCCACCCATCCACTCCCCTCTCCTCCTCCTCCCCTCACCTTCCCCTC CCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTC CCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACT CCCCTCACCTCCTCCTCCCCCCCTCCCCTCACCTCCCCCGCCCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(468): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGGTGGGAGGG GAGGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGG AGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGG GAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGG AGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGG AGGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03579.hp2 HG02572.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0139 a0001c0001t0001g0092 a0001c0001t0001g0139	2	138	0.0145	475	c.248 others(490): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCT CCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCC TCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCT CCCACCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCACTCGTCGACTCC CCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCT CCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCC CTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCC CCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(468): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGGAGTGGAAGGGGGTAGGGAGG GGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAG GGGGAGGGGGAGGGGGAGGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGG GGGAGGAGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGG AGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGG GAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAG GGGGAGGATGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGG GGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGG GAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0001 a0014c0024t0001	a0014c0024t0001g0042 a0014c0024t0001g0042	1	137	0.0073	475	c.248 others(490): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTC CCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCCTCC CCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCT CCCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCC CTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCTCCTCCCCCTC ACCTTCCCCTCCCCTCCCCCTCCCACCCCTCCCCCTCCCCCTCCCCCTCC CACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTC CCTACCCCCTTCCACTCCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANO9_chr11_412938_447011	429129	T T	TGGGTGGA others(468): Show TGGGTGGACAGACACGGGACACTCACCCCACACGTGGGGAGACAGACACA GGGACACGCCTCACGGGTGGACAGACACGGGACACTCACCCCACACGTGG GGAGACAGACACAGGGACACACCTCACGGGTGGACAGACACGGGACACTC ACCCCACACATGGGGAGACAGACATGGGACACGCACCCCACACGTGGGGA GACAGACACAGCGACACGCCTCACGGGTGGACAGACACGGGACACTCACC CCACACGTGGGGAGACAGACACAGGGACACGCCTCACAGGTGGACAGACA CGGGACACTCACCCCACACGTGGGGAGACAGACACAGGGACACGCCTCAC GGGTGGACAGACACGGGACACTCACCCCACACGTGGGGAGACAGACACAG GGACACACCTCACGGGTGGACAGACACGGGACACTCACCCCACACGTGGG GAGACAGACACAGCGACACGCCTCAC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	275	0.0036	475	c.916 others(490): Show c.916-304_916-303insGTGAGGCGTGTCGCTGTGTCTGTCTCCCCA CGTGTGGGGTGAGTGTCCCGTGTCTGTCCACCCGTGAGGTGTGTCCCTGT GTCTGTCTCCCCACGTGTGGGGTGAGTGTCCCGTGTCTGTCCACCCGTGA GGCGTGTCCCTGTGTCTGTCTCCCCACGTGTGGGGTGAGTGTCCCGTGTC TGTCCACCTGTGAGGCGTGTCCCTGTGTCTGTCTCCCCACGTGTGGGGTG AGTGTCCCGTGTCTGTCCACCCGTGAGGCGTGTCGCTGTGTCTGTCTCCC CACGTGTGGGGTGCGTGTCCCATGTCTGTCTCCCCATGTGTGGGGTGAGT GTCCCGTGTCTGTCCACCCGTGAGGTGTGTCCCTGTGTCTGTCTCCCCAC GTGTGGGGTGAGTGTCCCGTGTCTGTCCACCCGTGAGGCGTGTCCCTGTG TCTGTCTCCCCACGTGTGGGGTGAGTGTCCCGTGTCTGTCCACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	11/22			chr11	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(468): Show AATATATGTTGTATATACGTATATACAACATATATTTATGTTGTATATAC GTATATACATATATAAATATATGTTGTATATACGTATATACTATATATGT TGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACA ACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGTA TATACGTATATACAACATAAATATATGTTGTATATACGTATATACATATA TAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATA TACGTATATACTATATATGTTGTATATACGTATATACAACATATATTTAT ATATGTATATACGTATATACAACATAAATATATGTTGTATATACGTATAT ACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTT GTATATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	98	0.0102	475	c.676 others(492): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACATATAT AAATATATGTTGTATATACGTATATACAACATATATAGTATATACGTATA TACAACATATATTTATATATGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATA CAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTG TATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAAC ATATATAGTATATACGTATATACAACATATATTTATATATGTATATACGT ATATACAACATAAATATATGTTGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(468): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATATA CAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTG TATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAAC ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACATATATAAATATATGTTGTATATACGTATATACTATAT ATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACAACATAAAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp2 NA18953.hp1 NA18953.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0018 a0004c0009t0003 a0001c0002t0018 a0004c0009t0003	a0001c0002t0018g0085 a0004c0009t0003g0053 a0001c0002t0018g0085 a0004c0009t0003g0053	2	99	0.0202	475	c.676 others(492): Show c.676-4666_676-4665insATTTATGTTGTATATACGTATATACAAC ATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATA TACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATAT ATAGTATATACGTATATACAACATATATTTATATATGTATATACGTATAT ACAACATATATTTATATATGTATATACGTATATACAACATATATTTATGT TGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATACA ACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTA TATACGTATATACAACATATATAGTATATACGTATATACAACATATATTT ATATATGTATATACGTATATACAACATATATTTATATATGTATATACGTA TATACAACATATATTTATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(468): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACTATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC AACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGT ATATACGTATATACAACATAAATATATGTTGTATATACGTATATACATAT ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACTATATATGTTGTATATACGTATATACAACATAAATATA TGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATAT ACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTT GTATATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	98	0.0102	475	c.676 others(492): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATA TATTTATGTTGTATATACGTATATACAACATATATAGTATATACGTATAT ACAACATATATTTATATATGTATATACGTATATACAACATATATTTATAT ATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATAC AACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGT ATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACA TATATAGTATATACGTATATACAACATATATTTATATATGTATATACGTA TATACAACATATATTTATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(468): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACTATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC AACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGT ATATACGTATATACAACATAAATATATGTTGTATATACGTATATACATAT ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACTATATATGTTGTATATACGTATATACAACATATATTTA TGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATAT ACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTT GTATATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	98	0.0102	475	c.676 others(492): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATA AATATATGTTGTATATACGTATATACAACATATATAGTATATACGTATAT ACAACATATATTTATATATGTATATACGTATATACAACATATATTTATAT ATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATAC AACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGT ATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAACA TATATAGTATATACGTATATACAACATATATTTATATATGTATATACGTA TATACAACATATATTTATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(468): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGG GCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACG GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGG AGCCTGCAGACAAACCCACACTCGACAGACACACAGAGGAGGGCAGGGAG CCTGCAGACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCC TGCAGACAAACCCACCCTCGACAGAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0019 a0001c0006t0001g0019	1	54	0.0185	475	c.297 others(492): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCC CTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCG TCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCC TGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGC TCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCT GTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTG TGTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGTGTA TCGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCCTCTGTGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(468): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGG GCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACG GGAGCCTGCAGACAAACCCACACTCGACAGACACACAGAGCAGGGCAGGG AGCCTGCAGACAAACCCACACTCGACAGACACACAGAGGAGGGCAGGGAG CCTGCAGACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCC TGCAGACAAACCCACCCTCGACAGAC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0005 a0007c0018t0005	a0007c0018t0005g0199 a0007c0018t0005g0199	1	54	0.0185	475	c.297 others(492): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCC CTGCCCTGCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCCCG TCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCC CGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGC TCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCT GTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTG TGTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGTGTA TCGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCCTCTGTGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(468): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGG GCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACG GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGA AGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGGAGGGCAGGGAG CCTGCAGACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCC TGCAGACAAACCCACCCTCGACAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG01081.hp2 others(3): Show HG00099.hp2 HG01074.hp2 HG01081.hp2 HG01168.hp2 HG02273.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0009 a0001c0002t0010 a0002c0005t0007 a0001c0001t0009 a0001c0002t0010 a0002c0005t0007	a0001c0001t0009g0249 a0001c0002t0010g0133 a0002c0005t0007g0006 others(2): Show a0001c0001t0009g0249 a0001c0002t0010g0133 a0002c0005t0007g0006 a0002c0005t0007g0237 a0002c0005t0007g0238	6	59	0.1017	475	c.297 others(492): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCTGCCCTCCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTTC CTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCG TCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCC CGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGC TCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCT GTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTG TGTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGTGTA TCGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCCTCTGTGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(468): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGG GCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACG GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGG AGCCTGCAGACAAACCCACACTCGACAGACACACAGAGGAGGGCAGGGAG CCTGCAGACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCC TGCAGACAAACCCACCCTCGACAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(177): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02698.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19062.hp2 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0020 a0001c0029 a0002c0005 a0002c0009 a0002c0010 a0002c0027 a0003c0021 a0003c0023 a0003c0024 a0003c0025 a0003c0030 a0004c0017 a0005c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0001c0001t0027 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0019 a0001c0002t0025 a0001c0002t0028 a0001c0002t0029 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0015 a0001c0003t0020 a0001c0003t0021 a0001c0003t0034 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0004 a0001c0007t0005 a0001c0007t0009 a0001c0008t0004 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0008t0038 a0001c0011t0011 a0001c0011t0012 a0001c0011t0030 a0001c0012t0001 a0001c0012t0002 a0001c0013t0012 a0001c0014t0002 a0001c0020t0005 a0001c0029t0001 a0002c0005t0003 a0002c0005t0007 a0002c0009t0003 a0002c0009t0013 a0002c0009t0024 a0002c0010t0007 a0002c0027t0003 a0003c0021t0035 a0003c0023t0011 a0003c0024t0010 a0003c0025t0011 a0003c0030t0011 a0004c0017t0002 a0005c0028t0002	a0001c0001t0001g0004 a0001c0001t0001g0062 a0001c0001t0001g0166 others(173): Show a0001c0001t0001g0004 a0001c0001t0001g0062 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0250 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0005g0255 a0001c0001t0006g0154 a0001c0001t0006g0158 a0001c0001t0006g0160 a0001c0001t0006g0165 a0001c0001t0009g0234 a0001c0001t0009g0235 a0001c0001t0014g0251 a0001c0001t0019g0182 a0001c0001t0022g0243 a0001c0001t0027g0181 a0001c0001t0036g0248 a0001c0001t0037g0257 a0001c0001t0039g0259 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0117 a0001c0002t0001g0130 a0001c0002t0002g0066 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0006g0071 a0001c0002t0006g0072 a0001c0002t0006g0108 a0001c0002t0006g0128 a0001c0002t0006g0129 a0001c0002t0008g0070 a0001c0002t0008g0096 a0001c0002t0008g0097 a0001c0002t0008g0098 a0001c0002t0008g0099 a0001c0002t0008g0105 a0001c0002t0008g0106 a0001c0002t0008g0109 a0001c0002t0008g0112 a0001c0002t0008g0124 a0001c0002t0010g0103 a0001c0002t0019g0116 a0001c0002t0025g0095 a0001c0002t0028g0121 a0001c0002t0029g0074 a0001c0003t0004g0187 a0001c0003t0004g0189 a0001c0003t0004g0197 a0001c0003t0004g0202 a0001c0003t0004g0219 a0001c0003t0005g0224 a0001c0003t0009g0203 a0001c0003t0009g0205 a0001c0003t0009g0211 a0001c0003t0009g0213 a0001c0003t0009g0214 a0001c0003t0009g0222 a0001c0003t0015g0194 a0001c0003t0015g0195 a0001c0003t0020g0188 a0001c0003t0020g0200 a0001c0003t0021g0221 a0001c0003t0034g0201 a0001c0006t0001g0018 a0001c0006t0002g0026 a0001c0007t0001g0003 a0001c0007t0001g0150 a0001c0007t0001g0151 a0001c0007t0004g0244 a0001c0007t0004g0245 a0001c0007t0005g0226 a0001c0007t0005g0227 a0001c0007t0005g0228 a0001c0007t0005g0232 a0001c0007t0005g0253 a0001c0007t0009g0254 a0001c0008t0004g0212 a0001c0008t0005g0190 a0001c0008t0005g0191 a0001c0008t0005g0204 a0001c0008t0005g0210 a0001c0008t0005g0225 a0001c0008t0014g0198 a0001c0008t0014g0215 a0001c0008t0021g0216 a0001c0008t0038g0217 a0001c0011t0011g0139 a0001c0011t0011g0140 a0001c0011t0012g0143 a0001c0011t0030g0144 a0001c0012t0001g0069 a0001c0012t0001g0081 a0001c0012t0001g0101 a0001c0012t0001g0125 a0001c0012t0002g0080 a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0013t0012g0015 a0001c0014t0002g0012 a0001c0020t0005g0220 a0001c0029t0001g0142 a0002c0005t0003g0053 a0002c0005t0003g0054 a0002c0005t0003g0060 a0002c0005t0003g0061 a0002c0005t0003g0063 a0002c0005t0003g0064 a0002c0005t0003g0156 a0002c0005t0003g0180 a0002c0005t0007g0231 a0002c0005t0007g0260 a0002c0009t0003g0079 a0002c0009t0003g0092 a0002c0009t0003g0093 a0002c0009t0003g0100 a0002c0009t0003g0123 a0002c0009t0013g0067 a0002c0009t0013g0088 a0002c0009t0024g0119 a0002c0010t0007g0005 a0002c0010t0007g0206 a0002c0010t0007g0207 a0002c0010t0007g0208 a0002c0010t0007g0218 a0002c0027t0003g0114 a0003c0021t0035g0186 a0003c0023t0011g0020 a0003c0024t0010g0152 a0003c0025t0011g0055 a0003c0030t0011g0141 a0004c0017t0002g0137 a0004c0017t0002g0138 a0005c0028t0002g0107	180	233	0.7725	475	c.297 others(492): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCC CTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCG TCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCC CGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGC TCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCT GTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTG TGTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGTGTA TCGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCCTCTGTGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(468): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGG GCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACG GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGG AGCCTGCAGACAAACCCACACTCGACAGACACACAGAGGAGGGCAGGGAG CCTGCAGACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCC TGCAGACAAACCCACCCTTGACAGAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03209.hp1 NA20129.hp1 HG01243.hp2 HG03209.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017	a0001c0001t0002g0177 a0001c0001t0010g0184 a0001c0001t0017g0176 a0001c0001t0002g0177 a0001c0001t0010g0184 a0001c0001t0017g0176	3	56	0.0536	475	c.297 others(492): Show c.297+8419_297+8420insGTCTGTCAAGGGTGGGTTTGTCTGCAGG CTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCC CTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCG TCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCC CGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGC TCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCT GTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTG TGTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGTGTA TCGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCCTCTGTGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(468): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGG GCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACG GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGG AGCCTGCAGACAAACCCACACTCGACAGACACACAGAGGAGGGCAGGGAG CCTGCAGACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGGAGCC TGCAGACAAACCCACCCTCGACAGAC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0183 a0001c0001t0006g0183	1	54	0.0185	475	c.297 others(492): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTCCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCC CTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCG TCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCC CGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGC TCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCT GTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTG TGTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGTGTA TCGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCCTCTGTGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(468): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTGCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCTC TTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCC ACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCT CCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACT CCTCTCCCCTCCTCCCCCACTCCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG06807.hp1 HG01243.hp2 HG06807.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0014 a0003c0011t0001g0014	2	199	0.0101	475	c.178 others(490): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGGGGAGAGGAGTGGGGGAGGA GTGGGGGGAAGAGAGGAGAGGAGTGGGGAAGGAGTGGGGGAGGAGTGGGG GCAAGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAGTGGGGGGAAGAGG GGAGAGGAGTGGGGAGGAGGGAGATGAGGAGTGGGGGCAGGAGGGGGAAG AGGGGGGAGGAGGGGACAGGAGTGGGGGAGGAGTGGGAGGGGAGAGGAGT GGAGAAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGGGGAGAG CAGTGGGGGGAGGAGTGGGGGAGGAGGGGGAGGAGTGGGAGAGGAGGGGA GAGGAGTGGGGGAGGAGGGAGATGAGTAGGGGAAGGAGTCGGGGGAAGAG GGGAGAGGAGTGGGGGGAGGAGGGGGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C7orf50_chr7_992006_1143247	1003268	C C	CGGGTGGG others(468): Show CGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGCGGGTGGGGAGTCCTG TGGGTGAGTAGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCC TGCGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGAGTGGAGT CCTGTGGGTGGGGAGTCCTTGGGTGAGTGGAGTCCTGTGGGTTTGGAGTC CTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGAGTGGAG TCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGGGGAG TCCTGTGGGTTAGTGGAGTCCTGCGGGTGGGGAGTCCTGTGGGTGGGGAG TCCTCTGGGTGAGTGGAGTCCTGTGGGTGGGAAGTCCTGTGGGTGAGTGG AGCCCTGTGGGTGAGTGGAGTCCTGTGGGTGAGTGGAGTCCTGCAGGTGG GGAGTCCTGTGGGTGGGGAGTCCTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG02886.hp1 others(4): Show HG01884.hp1 HG02559.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0018 a0002c0002t0003 a0002c0002t0018	a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0312 others(4): Show a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0312 a0002c0002t0003g0319 a0002c0002t0003g0320 a0002c0002t0018g0202 a0002c0002t0018g0203	7	288	0.0243	475	c.324 others(492): Show c.324-2718_324-2717insACAGGACTCCCCACCCACAGGACTCCCC ACCTGCAGGACTCCACTCACCCACAGGACTCCACTCACCCACAGGGCTCC ACTCACCCACAGGACTTCCCACCCACAGGACTCCACTCACCCAGAGGACT CCCCACCCACAGGACTCCCCACCCGCAGGACTCCACTAACCCACAGGACT CCCCACCCACAGGACTCCACTCACCCACAGGACTCCCCACCCACAGGACT CCACTCACCCACAGGACTCCACTCACCCACAGGACTCCCCACCCACAGGA CTCCAAACCCACAGGACTCCACTCACCCAAGGACTCCCCACCCACAGGAC TCCACTCACCCACAGGACTCCACTCACCCACAGGACTCCCCACCCGCAGG ACTCCACTCACCCACAGGACTCCCCACCCACAGGACTCTACTCACCCACA GGACTCCCCACCCGCAGGACTCCACTCACCCACAGGACTCCCCACCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(468): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCTCTCTCTTTCT TTCACCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCC TGCCTTCCTTCCTTCCTTCCTTCTCTCTCTCTTTCTTTCACCCTCCCTCC CTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCG CCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0203 a0001c0002t0007g0203	1	22	0.0455	475	c.482 others(492): Show c.482+1368_482+1369insCTCCCTCCCTCCCTCCTTCCTTCCTTCC TTCCTTCTCTCTCTTTCTTTCACCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCCTGCCTTCCTTCCTTCCTTCCTTCTCTCTCTCT TTCTTTCACCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCC TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCC TTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(468): Show ATATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATAATTAT ATATATAATTTTATATATAATTATATATATAATTTTATATATATATAATT ATATATATTATATAATTTTATATATATAATTATATATATTATATAATTAT ATATATAATTTTATATATATACAATTATATATACAATTTTATAATATATA TAATTATATATACAATTATATATATATATAATTATATATATATAATTGTA TATATAATTTTATATATATAATTATATATAATTTTATATATATATAATTA TATATATAATTATATATATATAATTATATATATTTATATATATATATAAT TATATATATAATTTTATATATATAATTTTATATAATTTTATATATAATTA TATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0007 a0004c0005t0001g0007	1	249	0.0040	475	c.907 others(490): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTGTATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATAAAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar

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