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
COG7_chr16_23383493_23458189	23455642	G G	GGAGGCAG others(737): Show GGAGGCAGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGT GAACCGAGATCCGCCACTGCACTCCAGCCTGGGCAACAGACCGAGACTCC ATCCCCCCCCAAAAAAAAAAAAAATCCTGCTGGGATTTTGACAGGGATTA TGTTGAACTGTTGAATTGTTGGATTAATTTTAGGAGAATTGCCATCATGA CAATATTGACTGTTCCAATCCATAGCATGAAACGCCTCTTCATTTATTTA GATGGGAATTTTTCAGCCTTGGCACTACTGAGCCCAGATAATTTTTAGTT ATGGGGGCTGTCCTATGCATTGTAAGATATTTCGCAGCATCCCTGGCCGC TACCCATTAGGAGCAACATCCTCTCCAAGTTGTGGCAACCAAAAATCTGT CCACACAGTGCCAAGTGTTCCCTAGTAGGAATCACCCCTGGGGATTTAGA TCTGATTTAGATCTTCTTTAATTTCTCTCAGCAATATTTTGTAGTTTTCA TTGTATAATACAAGTCTTGCACTTATTTTGTTAAATTTATTTATTTATAA GTATTTCCTTTTCTAGGTGCAGTGGCTCATGCCTGCAATCCCAGCACTTT GGGAGGCCGAGGCAGGAGGATCACAAGGTCAGGAGTTCCATACAAGACTA GCCTGCCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAACAGC CTGGCGTGGTTGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02300.hp1 NA19060.hp1 HG00609.hp2 HG02300.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0073 a0001c0001t0002g0085 a0001c0001t0002g0054 a0001c0001t0002g0073 a0001c0001t0002g0085	3	272	0.0110	744	c.-26 others(755): Show c.-2649_-2648insTGCCTCCTGAGTAGCTGGGATTACAGGTGCACAC AACCACGCCAGGCTGTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCAT GTTGGGCAGGCTAGTCTTGTATGGAACTCCTGACCTTGTGATCCTCCTGC CTCGGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACTGCACCTAGA AAAGGAAATACTTATAAATAAATAAATTTAACAAAATAAGTGCAAGACTT GTATTATACAATGAAAACTACAAAATATTGCTGAGAGAAATTAAAGAAGA TCTAAATCAGATCTAAATCCCCAGGGGTGATTCCTACTAGGGAACACTTG GCACTGTGTGGACAGATTTTTGGTTGCCACAACTTGGAGAGGATGTTGCT CCTAATGGGTAGCGGCCAGGGATGCTGCGAAATATCTTACAATGCATAGG ACAGCCCCCATAACTAAAAATTATCTGGGCTCAGTAGTGCCAAGGCTGAA AAATTCCCATCTAAATAAATGAAGAGGCGTTTCATGCTATGGATTGGAAC AGTCAATATTGTCATGATGGCAATTCTCCTAAAATTAATCCAACAATTCA ACAGTTCAACATAATCCCTGTCAAAATCCCAGCAGGATTTTTTTTTTTTT TGGGGGGGGATGGAGTCTCGGTCTGTTGCCCAGGCTGGAGTGCAGTGGCG GATCTCGGTTCACTGCAACCTCTGCCTCCTAGGTTCAAGCGATTCTCCTG CCTCTGCCTC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding		2454		chr16	TogoVar
COL18A1_chr21_45400165_45518720	45500912	T T	TTGGTGTG others(737): Show TTGGTGTGTGGTGTGTGTGTGTGTGTGGGTGTGTAGTGTGGGGGTGTGGT TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGT GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGGTGTGGTTTGGTGTG TGTGTGTTGGGTGGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTGTTGGGTGTGTTGTGTGGGGGGTGTGGTTGGTGTGGGTGTGTTGGGTG TGTTGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGGTGTGGTGGGTGGTGTAGTGTGGGGGTGTGGTTTGGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA GTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGT TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TTGGGTGTGTAGTGTGGGGTGTGGGTTTGGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0032 a0032	a0032c0049 a0032c0049	a0032c0049t0002 a0032c0049t0002	a0032c0049t0002g0252 a0032c0049t0002g0252	1	292	0.0034	744	c.268 others(763): Show c.2684-3098_2684-3097insGGTGTGTGGTGTGTGTGTGTGTGTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG TGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA GTGGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGGTGTAGTGTGGGGGG TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG TGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTTGTGTGGGGGGTGTG GTTGGTGTGGGTGTGTTGGGTGTGTTGTGTGGGGGTGTGGTTTGGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGGTGTGGTGGGTGGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTT GGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(737): Show TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATA GGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGG CTGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCC GTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGT GGTTACAGTGTGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGG TTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTAC AGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAG CGTGTGGATAGGCCATGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCG TGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTG TGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTG GATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0103 a0001c0005t0003g0103	1	372	0.0027	744	c.180 others(763): Show c.180+27866_180+27867insGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGT TACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTA CAGTGTGTGGATAGGCTGTGGTTACAGTGCGTGGATAGACTGTGGTTACA GTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGT GTCTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGTTGCAGTGT GTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGT GGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGCGTGTGG ATAGGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGAT AGGCCGTGGTTACAGCGTGTGGATAGGCCATGGTCACAGCGTGTGGATAG GCCGTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGC CGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCG TGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTG GTTACAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385936	C C	CGTGTGGA others(737): Show CGTGTGGATGGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGTGTG GATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGG CCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGT GGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATGGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTAC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTACAG TGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTG TGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGCTACAGTGTG TGGATGGACCGTGGCTACAGTGTGTGGATGGGCCGTGGCTACAGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0005 a0002c0007t0005	a0002c0007t0005g0157 a0002c0007t0005g0157	1	372	0.0027	744	c.180 others(763): Show c.180+28402_180+28403insTGCAGTGTGTGGATAGGCCGTGGTTG CAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACA GTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGT GTGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGT GGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGG ATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGAT AGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGG ACCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATGGACCGTGGCTGCAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTG GTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGC TACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTA CAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGCTACA GTGTGTGGATGGACCGTGGCTACAGTGTGTGGATGGGCCGTGGCTACAGT GTGTGGATGGGCCGTGGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481937	C C	CTCTGTCC others(737): Show CTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAG ACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCC GTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTT CTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAG ACACACTGCTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCG TTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTC TGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGAC ACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGT TGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCT GTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGAC ACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCGT TGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTG TCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACA CACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCTTCCGTTG CTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03688.hp1 HG04204.hp1 HG00609.hp2 HG03688.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0004 a0001c0003t0003 a0001c0004t0004	a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0004t0004g0291 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0004t0004g0291	3	372	0.0081	744	c.275 others(761): Show c.2759-551_2759-550insCTCTGTCCCTCCGTGCTGGAGACACACT GTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTG GAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCC TCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACT GCTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGG AGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCT CCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGC TCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCTTC CATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGT TCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCGTTGCTGGA GACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCC GTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGA CACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCG TGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(737): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACAC CGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTC AGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCT GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCCAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01515.hp1 HG02273.hp2 HG01261.hp2 HG01515.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0072	3	345	0.0087	744	c.150 others(765): Show c.1503+10124_1503+10125insAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTGGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGA CGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGT GACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCC AGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTG AATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCT CCTCTCGGTGTGAATAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(737): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACAC CGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTC AGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCT GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19012.hp2 HG03486.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0055 a0001c0002t0001g0271 a0001c0001t0001g0055 a0001c0002t0001g0271	2	345	0.0058	744	c.150 others(765): Show c.1503+10124_1503+10125insAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGA CGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGT GACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCC AGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTG AATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCT CCTCTCGGTGTGAATAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DGKD_chr2_233349494_233477098	233397118	G G	GGCCAGAG others(737): Show GGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAG CGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGCGCCAGAGTGAGAGGAC TCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAG AGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGG AGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAG GGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGT GGCTGGGGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGT GGCTGCGGGGGGGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGC TGGGGGGGGGGGTGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGC TGGTAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCA GAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGC CAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAG AGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	336	0.0030	744	c.348 others(761): Show c.348+6662_348+6663insGCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGCAGAGCGAGAGGACTCC AGAGGGGACCAGGGTGGCTGGGGGGGGCGCCAGAGTGAGAGGACTCCAGA GGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGA CCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGG GTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGC TGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGG GGGGGGGGGTGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGC GGGGGGGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGG GGGGGGTGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAG AGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCC AGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGT GAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAG AGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGTGCCAGAGTGAG AGGACACCAGAGGGGA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	657527	C C	CGCTAGAC others(737): Show CGCTAGACCTGTCCCTGGACCTCACACTGGACCTGTCCCTGGACCTGCCC CTGGACCTGCCGCTGGACCTGCCGCTGGACCTGATGCTGGACCTGATGCT GGACCTGCCCCTGGACCTGCCCCTGGACCTGTCCCTGGACCTGCCGCTGG ACCTGATGCTGGACCTGACACTGGACCTGCCCCTGGACCTGCCCCTGGAC CTGCCGCTGGACCTGACACTGGACCTGCCACTGGACCTGACGCTTGACCT GATGCTGGACCTCTCCCTGGACCTGATGCTGGACCTGCCGCTGGACTTGA CCCTGGACCTGCCCCTGGACCTGCCGCTGGACCTGATGCTGGACCTGTCC CTGGACCTGCCCCTGGACCTGCCGCTGGACCTGCCACTGGACCTGTCCCT GGACCTGCCCCTGGACCTGCCCCTGGACCTGCCGCTGGACCTGATGCTGG ACCTGTCCCTGGACCTGCCCCTGGACCTGCCGCTGGACCTGCCACTGGAC CTGTCCCTGGACCTGCCCCTGGACCTGCCCCTGGACCTGTCCCTGGACCT GCCGCTGGACCTGCCGCTGGACCTGCCACTGGACCTGACCCTGGACCTGC CCCTGGACCTGCCCTTGGACCTGTCCCTGGACCTGTCCCTGGACCTGACG CTGGACCTGACACTGGACCTGATGCTGGACCTGTCCCTGGACCTGCCCCT GGACCTGCCGCTGGACCTGTCCCTGGACCTGACGCTGGACCTGCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0011 a0001c0019t0003g0011	1	88	0.0114	744	c.85+ others(761): Show c.85+31966_85+31967insAGCAGGTCCAGCGTCAGGTCCAGGGACA GGTCCAGCGGCAGGTCCAGGGGCAGGTCCAGGGACAGGTCCAGCATCAGG TCCAGTGTCAGGTCCAGCGTCAGGTCCAGGGACAGGTCCAGGGACAGGTC CAAGGGCAGGTCCAGGGGCAGGTCCAGGGTCAGGTCCAGTGGCAGGTCCA GCGGCAGGTCCAGCGGCAGGTCCAGGGACAGGTCCAGGGGCAGGTCCAGG GGCAGGTCCAGGGACAGGTCCAGTGGCAGGTCCAGCGGCAGGTCCAGGGG CAGGTCCAGGGACAGGTCCAGCATCAGGTCCAGCGGCAGGTCCAGGGGCA GGTCCAGGGGCAGGTCCAGGGACAGGTCCAGTGGCAGGTCCAGCGGCAGG TCCAGGGGCAGGTCCAGGGACAGGTCCAGCATCAGGTCCAGCGGCAGGTC CAGGGGCAGGTCCAGGGTCAAGTCCAGCGGCAGGTCCAGCATCAGGTCCA GGGAGAGGTCCAGCATCAGGTCAAGCGTCAGGTCCAGTGGCAGGTCCAGT GTCAGGTCCAGCGGCAGGTCCAGGGGCAGGTCCAGGGGCAGGTCCAGTGT CAGGTCCAGCATCAGGTCCAGCGGCAGGTCCAGGGACAGGTCCAGGGGCA GGTCCAGGGGCAGGTCCAGCATCAGGTCCAGCATCAGGTCCAGCGGCAGG TCCAGCGGCAGGTCCAGGGGCAGGTCCAGGGACAGGTCCAGTGTGAGGTC CAGGGACAGGTCTAGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1297510	A A	ATGAACAG others(737): Show ATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCATGAAC AGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACAC CACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTG AGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCATGTGAGACGG AGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGA AACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTG GCAGGCATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGC ATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAAC AGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACAC CACGTGAGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGTG AGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGTGAGACAG GGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGA GAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACG TGGCAGGCGTGAACAGACACCATGTGAGACGGAGGAGAAACGTGGCAGGC GTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	744	c.106 others(763): Show c.106+38714_106+38715insGTGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGA AACGTGGCAGGCGTGAACAGACACCATGTGAGACGGAGGAGAAACGTGGC AGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGT GAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCATGAACAG ACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCA CGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAG ACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGCATGAACAGACACCACGTGAGACAGGGAGGAGA AACGTGGCAGGCATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTG GCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGC GTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAAC AGACACCATGTGAGACGGAGGAGAAACGTGGCAGGCGTGAACAGACACCA CGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAG ACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1297510	A A	ATGAACAG others(737): Show ATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCATGAAC AGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACAC CACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTG AGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCATGTGAGACGG AGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGA AACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTG GCAGGCATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGC GTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAAC AGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACAC CACGTGAGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGTG AGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGTGAGACAG GGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGA GAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACG TGGCAGGCGTGAACAGACACCATGTGAGACGGAGGAGAAACGTGGCAGGC GTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	744	c.106 others(763): Show c.106+38714_106+38715insGTGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGA AACGTGGCAGGCGTGAACAGACACCATGTGAGACGGAGGAGAAACGTGGC AGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGT GAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCATGAACAG ACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCA CGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAG ACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGCATGAACAGACACCACGTGAGACAGGGAGGAGA AACGTGGCAGGCATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTG GCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGC GTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAAC AGACACCATGTGAGACGGAGGAGAAACGTGGCAGGCGTGAACAGACACCA CGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAG ACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1297510	A A	ATGAACAG others(737): Show ATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCATGAAC AGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACAC CACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTG AGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCATGTGAGACGG AGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGA AACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTG GCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGC ATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAAC AGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACAC CACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTG AGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGTGAGACAG GGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGA GAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACG TGGCAGGCGTGAACAGACACCATGTGAGACGGAGGAGAAACGTGGCAGGC GTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	40	0.0250	744	c.106 others(763): Show c.106+38714_106+38715insGTGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGA AACGTGGCAGGCGTGAACAGACACCATGTGAGACGGAGGAGAAACGTGGC AGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGT GAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAG ACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCA CGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAG ACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGA AACGTGGCAGGCATGAACAGACACCACGTGAGACAGGGAGGAGAAACGTG GCAGGCGTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGC GTGAACAGACACCACGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAAC AGACACCATGTGAGACGGAGGAGAAACGTGGCAGGCGTGAACAGACACCA CGTGAGACAGGGAGGAGAAACGTGGCAGGCGTGAACAGACACCACGTGAG ACAGGGAGGAGAAACGTGGCAGGCATGAACAGACACCACGTGAGACAGGG AGGAGAAACGTGGCAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK3_chr3_50669927_51389198	51015808	C C	CTATATAT others(737): Show CTATATATGATATATATATCATATATTTCTATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATTTCTATATATGATATATA TATCATATATTTCTATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT TTCTATATATGATATATATATCATATATTTCTATATATGATATATATATC ATATATTTCTATATATGATATATATATCATATATTTCTATATATGATATA TATATCATATATTTCTATATATGATATATATATCATATATTTCTATATAT GATATATATATCATATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATATGATATATATATCATATATTTCTATATATGATA TATATATCATATATATGATATATATATCATATATTTCTATATATGATATA TATATCATATATTTCTATATATGATATATATATCATATATATGATATATA TATCATATATATGATATATATATCATATATTTCTATATATGATATATATA TCATATATATGATATATATATCATATATTTCTATATATGATATATATAAT ATATATGATATATATATCATATATTTCTATATATGATATATATAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0012 a0002c0009t0001g0012	1	212	0.0047	744	c.316 others(763): Show c.316-48596_316-48595insATCATATATTTCTATATATGATATAT ATATCATATATTTCTATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TTTCTATATATGATATATATATCATATATTTCTATATATGATATATATAT CATATATTTCTATATATGATATATATATCATATATTTCTATATATGATAT ATATATCATATATTTCTATATATGATATATATATCATATATTTCTATATA TGATATATATATCATATATTTCTATATATGATATATATATCATATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATATGAT ATATATATCATATATTTCTATATATGATATATATATCATATATATGATAT ATATATCATATATTTCTATATATGATATATATATCATATATTTCTATATA TGATATATATATCATATATATGATATATATATCATATATATGATATATAT ATCATATATTTCTATATATGATATATATATCATATATATGATATATATAT CATATATTTCTATATATGATATATATAATATATATGATATATATATCATA TATTTCTATATATGATATATATAATATATATGATATATATATCATATATT TCTATATATGATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOK7_chr4_3458306_3499482	3490246	T T	TTCTCCCT others(737): Show TTCTCCCTGCTCATTCATCCTTCCTTCCCCACCACCCCGCTCATTCCTTC CTTCTCCTCCTGCTCATTCATTCCTTCCTTCTTCCTCCTACTCATTAATT CCTTCCTCCCCCCATTCCTTTCTTCACCCCCTCATTCATTCCTTTCTTCA CCCCCTCATTCATTCCTTTTCTCCCTGCTCATTCATTCCTTCCTTCCCCA CCCTGCTCATTCATTTCTTCCTCCGCCCCCCCCACTCATTCCTTCCCCCC TCATTCATTCCTGTCTTCACCCCCTCATTCATTCCTTCCTTCTTCCTCCT ACTCATTAATTCCTTCCTCCCCCCATTCCTTTCTTCACCCCCTCATTCAT TCCTTCCTTTTCTCCCTGCTCATTCATTCCTTCCTTCCCCACCTTGCTCA TTCATTTCTTCCTCCGCCCCCCCCGGCTCATTCTTGCCTTACCTCCATTC ATTCCTTCCTTTTCCCCACACTCATTCATTCCTTCCTTCCCCCCCACCCC CTGCTCATTCAGTCCTTCATTACCCTCCTGCTCATTCATTCCTTCTTTCA CCCCCCCCACCGCCCCGCTCATTCATTCCTTCATTTCTCTCCTGCTCATT CATTCCTTTCTTCTCCCTCTGCTCATTCATTCCTTCCTTTTCCCCCTGCT CATTCTTTCCTTCACCCCCCCGCTCATTCGTTCCTTCCTTCTCCCCCTGC TCATTCGTTTTTTCCTTCTCTCTCTGCTCATTCCTTCATTTCTTC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0029 a0003c0003t0007g0029	1	404	0.0025	744	c.772 others(759): Show c.772+467_772+468insCCTTCCTTCCCCACCACCCCGCTCATTCCT TCCTTCTCCTCCTGCTCATTCATTCCTTCCTTCTTCCTCCTACTCATTAA TTCCTTCCTCCCCCCATTCCTTTCTTCACCCCCTCATTCATTCCTTTCTT CACCCCCTCATTCATTCCTTTTCTCCCTGCTCATTCATTCCTTCCTTCCC CACCCTGCTCATTCATTTCTTCCTCCGCCCCCCCCACTCATTCCTTCCCC CCTCATTCATTCCTGTCTTCACCCCCTCATTCATTCCTTCCTTCTTCCTC CTACTCATTAATTCCTTCCTCCCCCCATTCCTTTCTTCACCCCCTCATTC ATTCCTTCCTTTTCTCCCTGCTCATTCATTCCTTCCTTCCCCACCTTGCT CATTCATTTCTTCCTCCGCCCCCCCCGGCTCATTCTTGCCTTACCTCCAT TCATTCCTTCCTTTTCCCCACACTCATTCATTCCTTCCTTCCCCCCCACC CCCTGCTCATTCAGTCCTTCATTACCCTCCTGCTCATTCATTCCTTCTTT CACCCCCCCCACCGCCCCGCTCATTCATTCCTTCATTTCTCTCCTGCTCA TTCATTCCTTTCTTCTCCCTCTGCTCATTCATTCCTTCCTTTTCCCCCTG CTCATTCTTTCCTTCACCCCCCCGCTCATTCGTTCCTTCCTTCTCCCCCT GCTCATTCGTTTTTTCCTTCTCTCTCTGCTCATTCCTTCATTTCTTCTCT CCCTGCTCATTCAT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
EXD3_chr9_137301896_137428162	137329795	G G	GGCTACAC others(737): Show GGCTACACGGGACTACACGGGGTGACACGGGACTACACGGGGCTACACGG GGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGACTACACGG GGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGACTACACG GGACTACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACAC GGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACA CGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGGCTAC ACGGGAGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGGCTA CACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGGCT ACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGGCTACACGGGAC TACACGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGG CTACACGGGGCTACACGGGACTACACGGGAGCTACACGGGACTACACGGG ACTACACGGGACTACACAGGGTCACACGGGACTACACGGGACTACACGGG ACTACACAGGAACTACACAGGGTCACACAGGACTACACCGGAGCTACACG GGACTACACAGGACTACACAGGACTATGCAGGACCACACAGGAGCTATAC AGGAGCTACACGGGACTACACAGGACTACACGGGACTACACCGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0039 a0008c0012t0001g0039	1	82	0.0122	744	c.199 others(763): Show c.1999-5653_1999-5652insTCCGGTGTAGTCCCGTGTAGTCCTGT GTAGTCCCGTGTAGCTCCTGTATAGCTCCTGTGTGGTCCTGCATAGTCCT GTGTAGTCCTGTGTAGTCCCGTGTAGCTCCGGTGTAGTCCTGTGTGACCC TGTGTAGTTCCTGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACC CTGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGT CCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGT CCCGTGTAGCTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAG CCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTA GCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGT AGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTG TAGTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGT GTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCC GTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCC GTGTAGCTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCC CGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTCACCC CGTGTAGTCCCGTGTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM171A1_chr10_15206643_15376289	15229788	A A	ACTATCAC others(737): Show ACTATCACCAACATCATCATCATCACCATCACCATCATCACCATCACCAT CATCACCATTGTCACCCCCCTCACCATCATCACCATCATCACCATTGTCA CCCCCATCACCATCACCAACGTCATCATCATCACCATCATCACCATCACC ATCATCACCATTGTCACCCCCCTCACCATCATCACCATCATCACCATTGT CACCCCCATCACCATCACCAACGTCATCATCATCACCATCATCACCATCA CCATCATCACCATTGTCACCCCCATCACCATCATCACCATCACCATCATC ACCATTGTCACCCCCATCACCATCATCACCATCACCACCATCACCATCAT CATCATCACCACCATCACCATCATCACCATCACCCCCATCACCATCATCA CCATCACCACCATCACCATCATCACCATCACCACTATCACCAACATCATC ATCATCACCATCACCATCATCACCATCACCATCATCACCATTGTCACCCC CCTCACCATCATCACCATCATCACCATTGTCACCCCCATCACCATCACCA ACGTCATCATCATCACCATCATCACCATCACCATCATCACCATTGTCACC CCCCTCACCATCATCACCATCATCACCATTGTCACCCCCATCACCATCAC CAACGTCATCATCATCACCATCATCACCATCACCATCATCACCATTGTCA CCCCCATCACCATCATCACCATCACCATCATCACCATTGTCACCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02622.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0126 a0001c0001t0002g0058 a0001c0001t0001g0126 a0001c0001t0002g0058	2	303	0.0066	744	c.755 others(761): Show c.755-8729_755-8728insGGGTGACAATGGTGATGATGGTGATGGT GATGATGGTGATGGGGGTGACAATGGTGATGATGGTGATGGTGATGATGG TGATGATGATGACGTTGGTGATGGTGATGGGGGTGACAATGGTGATGATG GTGATGATGGTGAGGGGGGTGACAATGGTGATGATGGTGATGGTGATGAT GGTGATGATGATGACGTTGGTGATGGTGATGGGGGTGACAATGGTGATGA TGGTGATGATGGTGAGGGGGGTGACAATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGATGATGTTGGTGATAGTGGTGATGGTGATGAT GGTGATGGTGGTGATGGTGATGATGGTGATGGGGGTGATGGTGATGATGG TGATGGTGGTGATGATGATGATGGTGATGGTGGTGATGGTGATGATGGTG ATGGGGGTGACAATGGTGATGATGGTGATGGTGATGATGGTGATGGGGGT GACAATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGACGTTGG TGATGGTGATGGGGGTGACAATGGTGATGATGGTGATGATGGTGAGGGGG GTGACAATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGACGTT GGTGATGGTGATGGGGGTGACAATGGTGATGATGGTGATGATGGTGAGGG GGGTGACAATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATG ATGATGTTGGTGATAG	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7			chr10	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCCTT others(737): Show TCCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCC TCTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCCTCT CCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCCT TCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCCTCTCCCTCCCTTCCCC TCACCCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCC TCTCCCCTCTCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCC CTCTTTCTCCTTCCCGCTCCCCTCTCCCCCTTTCTCCCTCTCTCTCCCTC CCCCTTTCTCCTTCCCGCTCCCCTCTCTCCCCTTTCTCCCTCTCTCTCCC TCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGT CTCCCCCTCTCCCCCCCCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTC CCTCTCTCCCCCTGCCCCTCTCCCCTCCCTCTCTCCCCCCTCCCCCCTCT TCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCCCACCTCCTTCT CCCTCTCTCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCCTCTCCC TCTCCCCCCTCCCCCCTCTCCCTCTCCCCCCCTCCCTCTTTCCCCCCTTC CTTCCTCCCCTCTCTCCCACTCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0039 a0039	a0039c0043 a0039c0043	a0039c0043t0001 a0039c0043t0001	a0039c0043t0001g0038 a0039c0043t0001g0038	1	230	0.0044	744	c.126 others(761): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGAGTG GGAGAGAGGGGAGGAAGGAAGGGGGGAAAGAGGGAGGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGAGGGAGAGAGAGGGAGAGGGAGGGA AAGGGGGGGAGAGAGGGAGAAGGAGGTGGGGGGAGAGAGGGAGAAGGAGG GGGAGAGAGGGAGGGGAAGAGGGGGGAGGGGGGAGAGAGGGAGGGGAGAG GGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAG GGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGG GGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGGAG CGGGAAGGAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGGAGAGGGGA GCGGGAAGGAGAAAGAGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAG GGAGGGGAGAGGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGG GGAGGGAGGGGGGGTGAGGGGAAGGGAGGGAGAGGGGGGGAGAGAGGGTA GGGAGGGAGAGGGGGGAAGGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGA GGGAGGGAGAGGGGGGGAGAGGGGGAGGGAGGGAGAGGGGGGAAAGGGGA GGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGA GAGGGGGGAAAGGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(737): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCTAGCTCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGC TCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAA TGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0182 a0001c0001t0004g0182	1	204	0.0049	744	c.240 others(763): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCCTCAGAGCTGGGCTGTGG TTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC CCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TCATTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCC AGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTG GGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGG TCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716845	C C	CACAGCCC others(737): Show CACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCA CAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCTGA GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	204	0.0049	744	c.240 others(763): Show c.240+55556_240+55557insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTG GGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGG TCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241807888	T T	TCCCTCCC others(737): Show TCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACTCTCCCTCC CCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	314	0.0032	744	c.37 others(755): Show c.3722_*3723insCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCA GGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC GGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3602		chr2	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(737): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCG GTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGA GGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGG GCTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGCGGTGGGT TCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGGCTC GTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGAGGGTTCGT TCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGATTCGTTC GTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGT GTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGT TAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTA GACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTGTG TTAGACGCGGTGGACTCGTTCGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19085.hp2 NA18993.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0204 a0001c0001t0001g0205	2	441	0.0045	744	c.35- others(757): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACC CTCCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCA CCGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACC GCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGC GTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGT CTAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCT AACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAA CACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGTCTAACA CCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACG AACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAA CGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGAACG AACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGAACGAG CCCGCCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GPC6_chr13_93221807_94413020	94157258	T T	TAAAACTG others(737): Show TAAAACTGTTATTATATAGCGGAACACTTTTACACTGTTGGTGGGACTGT AAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCT AGAGCTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACC CAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTT ATTGCGGCACTATTCACAATAGCAAATACTTGGAACCAACCCAAATGTCC AACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACCCAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACAC ATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTCAAAATACAAGGAAACT TAATATATTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0048 a0001c0001t0015g0048	1	76	0.0132	744	c.878 others(765): Show c.878-129076_878-129075insTAGCGGAACACTTTTACACTGTTG GTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCC TCAGGGATCTAGAGCTAGAAATACCATTTGACCCAGCCATCCCATTACTG GGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCAC ACGTATGTTTATTGCGGCACTATTCACAATAGCAAATACTTGGAACCAAC CCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATAC ACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGT AGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAG AACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACA ATGAGATCACATGGACCCAGGAAGGGGAATATCACACTCTGGGGACTGTG GTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGC TAGATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACAT ATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATA ATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTCAAAATA CAAGGAAACTTAATATATTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAACTGTTATTATA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(737): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATATAAA TATATATATTTATATATAAATATATATATTTATATATAAATATATATATT TATATATAAATATATATATTTATATATAAATATATATATAAATATATATA TTTATATATAAATATATATATTTATATATATATTTATATATAAATATATA TATTTATATATAAATATATATATTTATATATATAAATATATATATTTATA TATATAAATATATATATATTTATATTTACAAATATATATATTTATATATA TATTTATATTTATATATATTTATATTTATATATATATATATAAATATATA TTTATGTATATTTATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0039 a0009c0007t0039	a0009c0007t0039g0143 a0009c0007t0039g0143	1	208	0.0048	744	c.-97 others(761): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATATAAATATATATATTTATATATAAATATATATATTTATATATAAATAT ATATATTTATATATAAATATATATATTTATATATAAATATATATATAAAT ATATATATTTATATATAAATATATATATTTATATATATATTTATATATAA ATATATATATTTATATATAAATATATATATTTATATATATAAATATATAT ATTTATATATATAAATATATATATATTTATATTTACAAATATATATATTT ATATATATATTTATATTTATATATATTTATATTTATATATATATATATAA ATATATATTTATGTATATTTATATATAAATATAAATATATATTTATATAT AAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIK3_chr1_36790527_37039515	36793822	T T	TTGGGTGG others(737): Show TTGGGTGGATGGATGGATCGGTGGATGGATGGATGGATGGATGGGTGGGT GGACGGATGGATCGGTGGATGGATGAATGGGTGGATGGATGGATGGATGG GTGGATGGATGGATGGGTGGATGGACGGATGGATGGATGGGTGGACAGAT GGATGGGTGGGTGGATGGATGGATGGGTGGATGGATGGATGGATGGATGG GTGGATGGGTGGATGGATGGATGGATGGGTGGATGGATGGAGGGGTGGAT GGATGGATGGATGGGTGGGTGGATGAATGGGTGGTTGGATGGATGGATGG ATGGATGGGTGGATGGGTAGATGGATGGATGGGTGGGTGGATGGATGGCT GGGTGGATGGGTGGATGGATGGATGGGTGGGTGGATGGATGGCTGGGTGG ATGGATGGGTGGATGGATGGATGGATGGATGGATGGATGAATGGGTGGAT GGATGGATGGATGGATGGATGGGTGGATGGGTGGATGGATGGATGGGTGG GTGGATGGATGGATGGGTTGGTGGATGGATGGATGTATGGGTGGATGTAT GTATGTATGTATGTATGGGTGGGTGGATGGATAGATGGATGGATGGATGG GCGGATGGATGGATGGGTGGGTGGGTGGATGGATGGGTGGATGGATGAAT GGGTGGATGGGTGGATGGATGGATGGGTGGGTGGATGGATGGGTGGATGG ATGGATGGGTGGATGGATGGATGGGTGGGTGGGTGGATGGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0114 a0002c0001t0029g0114	1	114	0.0088	744	c.80 others(755): Show c.8028_*8029insTCCATCCATCCACCCACCCACCCATCCATCCATC CACCCATCCATCCATCCACCCATCCATCCACCCACCCATCCATCCATCCA CCCATCCACCCATTCATCCATCCACCCATCCATCCACCCACCCACCCATC CATCCATCCGCCCATCCATCCATCCATCTATCCATCCACCCACCCATACA TACATACATACATACATCCACCCATACATCCATCCATCCACCAACCCATC CATCCATCCACCCACCCATCCATCCATCCACCCATCCACCCATCCATCCA TCCATCCATCCATCCACCCATTCATCCATCCATCCATCCATCCATCCATC CACCCATCCATCCACCCAGCCATCCATCCACCCACCCATCCATCCATCCA CCCATCCACCCAGCCATCCATCCACCCACCCATCCATCCATCTACCCATC CACCCATCCATCCATCCATCCATCCAACCACCCATTCATCCACCCACCCA TCCATCCATCCATCCACCCCTCCATCCATCCACCCATCCATCCATCCATC CACCCATCCACCCATCCATCCATCCATCCATCCACCCATCCATCCATCCA CCCACCCATCCATCTGTCCACCCATCCATCCATCCGTCCATCCACCCATC CATCCATCCACCCATCCATCCATCCATCCACCCATTCATCCATCCACCGA TCCATCCGTCCACCCACCCATCCATCCATCCATCCATCCACCGATCCATC CATCCACCCA	GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding		1704		chr1	TogoVar
GRTP1_chr13_113319163_113369130	113346904	G G	GCCTGACA others(737): Show GCCTGACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGA GGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAAC AGACCCAGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGT GGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGACAGTGGACCCGGGA GGACCTCTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGC AGACCTGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGCACCTCTGT GGCTGAGCGGATCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGG ACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAACAG ACCCGGGAGGACCTCTGTGGCCGAGAACAGATCCGGGAGGACCTCTGTGG CCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGG ACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGAC CCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGGCT GAGAGCAGACCCAGGAGCACCTCTGTGCCTGACAGTGGACCCGGGAGGAC CTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCTGAGAACAGACCC GGGAGGACCTCTGTGGCCGAGAACAGATCCGGGAGGACCTCTGAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	288	0.0035	744	c.466 others(761): Show c.466-1946_466-1945insTTCAGAGGTCCTCCCGGATCTGTTCTCG GCCACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCAGA TCCGCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTG CTCCTGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGC CACAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCAGATC CGCTCAGCCACAGAGGTCCTCCCGGGTCCGCTCTCAGCCACAGAGGTCCT CCTGGGTCTGCTCTCGGCCACAGAGGTCCTCCCGGATCTGTTCTCGGCCA CAGAGGTCCTCCCGGGTCTGTTCTCAGCCACAGAGGTCCTCCCGGGTCCA CTGTCAGGCACAGAGGTCCTCCTGGGTCTGCTCTTTGCCACAGAGGTCCT CCCGGATCCGCTCAGCCACAGAGGTGCTCCTGGGTCCGCTCTCGGCCACA GAGGTCCTCCCAGGTCTGCTCTCGGCCACAGAGGTCCTCCCGGGTCTGCT CTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCC TGGGTCTGCTCTCGGCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACA GAGGTCCTCCTGGGTCTGTTCTCAGCCACAGAGGTCCTCCCGGGTCCACT GTCAGGCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTCC CGGGTCCACTGTCAGG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(737): Show TCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCAT CACCACCTCTACCACCACCATCACCACCACCACCATCACCACCTCTACCA CCACCATCACCACCACCACTATCACCACCTCTACCACCACCATCACCACC ACCACCACCACCACCTCTACCACCACCATCACCACCACCACCACCATCAC CTCTACCACCACCATCACCACCACCACCACCATCACCACCTCTACCACCA CCATCACCACCACCACTACCACCTCTACCACCACCATCACCACCACCACT ACCACCACCACCACCACCACCACCACCACTACCACCTCTACCACCTCTAC CACCACGACCACCACTACCACCTCTACCACCACCATCACCACCACCACTA CCACCACCACCACCACCACCACCACCACCACTACCACCTCTACCACCTCT ACCACCACGACCACCACTACCACCTCTACCACCACCATCATCACCACCAC CACTACCACCTCTACCACCACCATCACCACCACCACCACCATCACCTCTA CCACCACCATCACCACCACCACCACCATCACCACCTCTACCACCACCATC ACCACCACCACTATCACCACCTCTACCACCACCATCACCACCACCACCAC CACCTCTACCACCACCATCACCACCACCACCACCACCACCTCTACCACCA CCATCACTACTACCACCACCACCATCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0028 a0028	a0028c0026 a0028c0026	a0028c0026t0069 a0028c0026t0069	a0028c0026t0069g0025 a0028c0026t0069g0025	1	134	0.0075	744	c.520 others(765): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAGGT GGTAGTGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGGTGGTGGTAGAG GTGGTAGTGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGT GGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGGTGGTGGTAGAGG TGGTAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTAGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGA TAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399426	A A	ATCACCAT others(737): Show ATCACCATCATCACCACCACCACCACCACCACCGCCACCACCACCACCAT CACCGCCACCACCATCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCATCATCACCACCACCACCACCACCGCCACCACC ACCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCGCCACCACCATCACCATCATCACCACCA CCACCACCATCACCACCACCACCACCACCACCGCCACCACCACCACCATC ACCGCCACCACCATCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCATCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACC GCCACCACCACCACCATCACCACCACCACCATCACCATCATCACCACCAC CACCACCATCACCACCACCATCACCACCATCACCACCACCATCACCACCG CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCATCACCACCACCATCATCACCACCATCACCACCACCATCATCAC CACCATCATCACCACCATCACCACCACCATCACCACCACCATCATCACCA CCATCACCACCACCACCATCGCCGCCACCACCACCACCATCGCCG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0093 a0001c0006t0004g0093	1	314	0.0032	744	c.-25 others(761): Show c.-25+2506_-25+2507insTCACCATCATCACCACCACCACCACCAC CACCGCCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCATCACCGCCACCA CCATCACCATCATCACCACCACCACCACCATCACCACCACCACCACCACC ACCGCCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACC ACCACCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCAC CATCACCATCATCACCACCACCACCACCATCACCACCACCATCACCACCA TCACCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCATCATCACCAC CATCACCACCACCATCATCACCACCATCATCACCACCATCACCACCACCA TCACCACCACCATCATCACCACCATCACCACCACCACCATCGCCGCCACC ACCACCACCATCGCCG	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4			chr2	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(737): Show CATTATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCA CCTCCACCACCACCACCATCTCCTTCACCACCACTACCCCCACCACTACC ACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCAC CACCACCACCATCTCCTTCACCACCACTACCCCCACCACTACCACCATCA CCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACC ACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCAT CTCCTTCAACACCACTACCCCCACCACTACCACCATCACCTCTTCCACCA CTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTTC ACCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCAC CATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCA CCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACC ACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCAT CACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCA CCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACCTCC TCCACCACTACCACCATCTCCTCCACCACCACCACCACCACCACA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	274	0.0037	744	c.804 others(761): Show c.804+4446_804+4447insTGTGGTGGTGGTGGTGGTGGTGGAGGAG ATGGTGGTAGTGGTGGAGGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGT GGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGG TAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAG GAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGT AGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAG TGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTG CTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGT GGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGG TAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTG ATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGT GGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGA AGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTG GTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGAT GGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGG TGATGAAGGAGATAAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(737): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGG AGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGA CGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 NA18906.hp2 HG02717.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0013g0024 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0013g0024	3	204	0.0147	744	c.978 others(761): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCA GGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGA GAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAG GAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGG AGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQSEC3_chr12_61767_183455	103869	G G	GGGGGTAG others(737): Show GGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGT GGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGA GGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGG TGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGG GCTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGGGA GAGGTGGAGTTCGGTGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTC GGTGGGGAGGCAGGGCTCAGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGG GACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGGAGG TGGGGCTCAGGAGGGGAGGCGGGGCTCAGGCAGGAGAGGTGGGACTCAGG TGGGGAGGCAGGACTCAGGAGGGAGAGGTGGAGTTCAGGAGGGGAGGCGG GGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGG AGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGA GGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAG TTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCAGGGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0124 a0002c0001t0011g0124	1	282	0.0036	744	c.623 others(761): Show c.623+4656_623+4657insGGGTAGGTGGGGGCTCAGGAGGGGAGGT GGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGG AGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAG GAGGGAGAGGTGGAGTTCGGTGGGGAGGCGGGGCTCAGGAGGGAGAGGTG GAGTTCGGTGGGGAGGCAGGGCTCAGGAGGGAGAGGTGGAGTTCAGGGGG GAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCGGGGCTC AGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGTAGGTGG GGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGG GAGGCAGGGCTGGGGGGAGGTGGGGCTCAGGAGGGGAGGCGGGGCTCAGG CAGGAGAGGTGGGACTCAGGTGGGGAGGCAGGACTCAGGAGGGAGAGGTG GAGTTCAGGAGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGG GGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTG GGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGG CTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAG GCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGA GGGGAGGCGGGGCTCG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAG2_chr14_105135995_105173776	105162474	C C	CAAAGCCC others(737): Show CAAAGCCCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCC CACAGCCCAGGGCACTGCATGGCCCAGCATACTCCAAGACCCAGGGCACC CCAGTTCCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCAC TGCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGGTA CCCCAGGTCCAGGGCACCCCAAAGCCCAGAGTATCCCACAGCCCAGGGCA CTGCATGGCCCAGCATACTCCAAGACCCAGGGCACCCCAGTTCCAGGGCA CCCCAAAGCCCAGGGTACCCCAGAGCCCCAAAGCACTGCATGGCCCAGCA CACCCCAAGGTCCAGGGCACCTTAAAGCCCAGGGTACCCCAGGTCCAGGG CACCCCAAAGCCCAGAGTATCCCACAGCCCAGGGCACTGCATGGCCCAGC ATACTCCAAGACCCAGGGCACCCCAGTTCCAGGGCACCCCAAAGCCCAGG GTACCCCAGAGCCCCAAAGCACTGCATGGCCCAGCACACCCCAAGGTCCA GGGCACCTTAAAGCCCAGGGTACCCCAGGTCCAGGGCACCCCAAAGCCCA GAGTATCCCACAGCCCAGGGCACTGCATGGCCCAGCATACTCCAAGACCC AGGGCACCCCAGTTCCAGGGCACCCCAAAGCCCAGGGTACCCCAGAGCCC CAAAGCACTGCATGGCCCAGCACACCCCAAGGTCCAGGGCACCTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp2 NA18986.hp1 HG02970.hp1 HG03209.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0051 a0001c0001 a0001c0009 a0001c0051	a0001c0001t0001 a0001c0009t0001 a0001c0051t0001 a0001c0001t0001 a0001c0009t0001 a0001c0051t0001	a0001c0001t0001g0208 a0001c0009t0001g0206 a0001c0051t0001g0207 a0001c0001t0001g0208 a0001c0009t0001g0206 a0001c0051t0001g0207	3	364	0.0082	744	c.418 others(761): Show c.418-4712_418-4711insAAGGTGCCCTGGACCTTGGGGTGTGCTG GGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCC TGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCC TGGGCTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCC TGGGCTTTAAGGTGCCCTGGACCTTGGGGTGTGCTGGGCCATGCAGTGCT TTGGGGCTCTGGGGTACCCTGGGCTTTGGGGTGCCCTGGAACTGGGGTGC CCTGGGTCTTGGAGTATGCTGGGCCATGCAGTGCCCTGGGCTGTGGGATA CTCTGGGCTTTGGGGTGCCCTGGACCTGGGGTACCCTGGGCTTTAAGGTG CCCTGGACCTTGGGGTGTGCTGGGCCATGCAGTGCTTTGGGGCTCTGGGG TACCCTGGGCTTTGGGGTGCCCTGGAACTGGGGTGCCCTGGGTCTTGGAG TATGCTGGGCCATGCAGTGCCCTGGGCTGTGGGATACTCTGGGCTTTGGG GTGCCCTGGACCTGGGGTACCCTGGGCTTTAAGGTGCCCTGGACCTTGGG GTGTGCTGGGCCATGCAGTGCTTTGGGGCTCTGGGGTACCCTGGGCTTTG GGGTGCCCTGGAACTGGGGTGCCCTGGGTCTTGGAGTATGCTGGGCCATG CAGTGCCCTGGGCTGTGGGATACTCTGGGCTTTGGGGTGCCCTGGACCTG GGGTACCCTGGGCTTT	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
KDM2B_chr12_121424096_121586023	121514897	C C	CACCCCCA others(737): Show CACCCCCAATCACACTCCCCACCCCCTCTAATCACACTCCCCACCCCCTA ATCACACTCCCCACCCCAGTCACACTCCCCATCCCCTCTAATCACACTCC CCACCCCCAATCACACTCCCCACCCCCCAATCACACTCCTCACCCCCTCT AATCACACTCCCCATCCCCTAATCACACTCCCCACCCCAATCACACTCCC CATCCCCTCTAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCCA ATCACACTCCTCACCCCCTCTAATCACACTCCCCACCCCCTAATCACACT CCCCACCCCAATCACACTCCCCATCCCCTCTAATCACACTCCCCACCCCC AATCACACTCCCCACCCCCCAATCACACTCCCCACCCCCTCTAATCACAC TCCCCACCCCCTAATCACACTCCCCACCCCAATCACACTCTCCATCCCCT CTAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAATCACA CTCCCCACCCCCTAATCACACTCCCCACCCCAATCACACTCCCCATCCCC TCTAATCACACTCCCCACCCCCAATCACACTCCCCACCCCCTCTAATCAC ACTCCCCACCCCCCAATCACAGTCCCCATCCCCCAATCACACTCCCCATC CCCCCATCACTCCCCACCCCCAATCACATTCCCCATCCCCCGAATCACAC CCCCCACCCCCTAATCACACTCCCCACCCCCTAATCACACTCCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0262 a0001c0001t0010g0262	1	270	0.0037	744	c.104 others(763): Show c.1048-1496_1048-1495insAGGGAGTGTGATTAGGGGGTGGGGAG TGTGATTAGGGGGTGGGGGGTGTGATTCGGGGGATGGGGAATGTGATTGG GGGTGGGGAGTGATGGGGGGATGGGGAGTGTGATTGGGGGATGGGGACTG TGATTGGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGGG GGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAGT GTGATTAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTGG GGGTGGGGAGTGTGATTAGAGGGGATGGAGAGTGTGATTGGGGTGGGGAG TGTGATTAGGGGGTGGGGAGTGTGATTAGAGGGGGTGGGGAGTGTGATTG GGGGGTGGGGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGATGGG GAGTGTGATTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGTGTGATTAG AGGGGGTGAGGAGTGTGATTGGGGGGTGGGGAGTGTGATTGGGGGTGGGG AGTGTGATTAGAGGGGATGGGGAGTGTGATTGGGGTGGGGAGTGTGATTA GGGGATGGGGAGTGTGATTAGAGGGGGTGAGGAGTGTGATTGGGGGGTGG GGAGTGTGATTGGGGGTGGGGAGTGTGATTAGAGGGGATGGGGAGTGTGA CTGGGGTGGGGAGTGTGATTAGGGGGTGGGGAGTGTGATTAGAGGGGGTG GGGAGTGTGATTGGGGGT	KDM2B	ENSG00000089094.20	transcript	ENST00000377071.9	protein_coding	9/22			chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(737): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	744	c.-27 others(755): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(737): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	744	c.-27 others(755): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(737): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA18979.hp2 NA19063.hp2 HG02056.hp2 NA18979.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	370	0.0081	744	c.-27 others(755): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(737): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	744	c.-27 others(755): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(737): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTGTCCCTCCTCTCCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	370	0.0027	744	c.-27 others(755): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGACAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(737): Show CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACGCTTAC ACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACGCTTACACCCACCCTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTAC ATCTACCTCCACACCCACAATTACACCCACGCTTACATCTACCTCCACAC CCACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC ACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACAATTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	290	0.0035	744	c.129 others(761): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACCCACGCTTACACCCACCCTTACATCTACCTCCACACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACGCTT ACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACAC TTACACCCACACTTACATCTACCTCCACACCCACAATTACACCCACGCTT ACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACAC TTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACAATTACACCCACGCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGAGAGGG others(737): Show GGAGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGAGAGGGGGAGAGGGGGG AGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGA GGGGGAGAGGGGGGGAGGGGGAGGGGGGGAGAGGGGGAGAGGGGGGGAGG GGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGAGGGGGGG AGGGGGGAGGGGGGGAGGGGGGAGGGGGGGAGGGGGGAGGGGGGGAGGGG GAGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGG GGGAGAGGGGGGAGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGA GAGGGGGGAGAGGGGGGAGGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGA GAGGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAG AGGGGGAGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGA GGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGG GGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGAGGG GGAGAGAGGGGGAGAGAGGGGGGAGAGAGGGGGAGAGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	163	0.0061	744	c.525 others(761): Show c.525+8360_525+8361insTCCCCCCTCTCTCCCCCTCTCTCCCCCC TCTCTCCCCCTCTCTCCCCCTCTCTCCCCCCTCCCCCCTCCCCCCTCCCC CCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTC CCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCC CCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCT CTCCCCCCTCTCCCCCTCTCTCCCCCCTCTCCCCCTCTCTCCCCCCTCTC CCCCTCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCCT CCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCT CCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCC CCCCTCCCCCCTCTCTCCCCCTCCCCCCCTCCCCCCTCCCCCCCTCCCCC CTCCCCCCCTCCCCCCTCCCCCCCTCTCTCCCCCCTCCCCCCCTCTCCCC CCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCTCTCCCCCCCTCCCC CTCCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCCTCC CCCTCTCCCCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(737): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCA CCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTC CCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCC TCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCT TCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCC CCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTC CCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCC TCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCC CCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCC CACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCC TGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0037 a0001c0067t0037	a0001c0067t0037g0179 a0001c0067t0037g0179	1	278	0.0036	744	c.115 others(761): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTC TTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTC CCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCAT CCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGC CTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTC CCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCT CCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCT CCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTC TCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCC CTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(737): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCCCTCC ACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCAC CCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTCC CCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCT CCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTT CCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCC CTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCC CCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCCT CACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCC CTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCC ACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCT GTCCCCACTCCTCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0103 a0002c0005t0001g0103	1	278	0.0036	744	c.115 others(761): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCCC TCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCT TCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCC CCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCC CTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATC CCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCC TCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCC CCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTC CCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTC CCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCT CCTGTCCCCACTCCTCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCACCC CTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(737): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCT CCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTC CCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	140	0.0071	744	c.114 others(763): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCC CCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTC CTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCC CCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(737): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAG GGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGG AGGAGAGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGAGGGAGGAGGG ACGGAGGAGGGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGG GAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAG AGGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGA GGGAGGAAGGAGGGAAGAGAGAGGGAGGGAAGGAGGGAAGAGGAAGGAGG GAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAGGGAGGAG GGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAG GAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGGAGAG AGGAGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0044 a0001c0040t0044	a0001c0040t0044g0020 a0001c0040t0044g0020	1	348	0.0029	744	c.887 others(761): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCT GCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCC TCCCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCT CTTCCCTCCTTCCTCCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCT CCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCC CTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCCTCCTCCCTC CCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCCTCCCCCCTCCTC CCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCC TCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCCTCC CTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTCCCTCCTTCCTCCCT CCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NEU4_chr2_241804193_241822413	241807888	T T	TCCCTCCC others(737): Show TCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACTCTCCCTCC CCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	319	0.0031	744	c.-13 others(755): Show c.-1390_-1389insCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCA GGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC GGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1304		chr2	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(737): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATAGT TTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTT AAACTATATAGTTTAAACTATATAGTTTTAAACTATATAGTTTAAACTAT ATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAG TTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTA GTTTTAAACTAGTTTATATTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03710.hp2 HG02602.hp1 HG03710.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0222 a0001c0005t0001g0226 a0001c0005t0001g0222 a0001c0005t0001g0226	2	244	0.0082	744	c.342 others(763): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAACTATAT AGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTATATAGT TTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAACTATAT AGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTTAAACTA TATAAACTATATAGTTTAAACTATATAAACTATATAGTTTAAAACTATAT ATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTAT AAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(737): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATAATATATATTATATATATAAAGTATATATATAATATATATTATA TATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGT ATATATATAATATATATAATATATATTATATATATAAAGTATATATATTA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATTATATATAAAGTATATATATAATAT ATATTATATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0273 a0001c0001t0004g0273	1	308	0.0033	744	c.730 others(761): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATAATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATACTTTATATATA TAATATATATTATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATATATTATATATATAC TTTATATATATAATATATATTATATATATTATATATATACTTTATATATA TAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(737): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCCCTCCCACCCTCCCCCCCTCCCCTCCCACCCT CCCCCCCTCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCC CCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTC CCCCTTCCCCTTCCCTCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCC CTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	326	0.0031	744	c.433 others(761): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGGGGAGGGTGGGAGGG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTM_chr11_131365615_132341822	131680627	C C	CTGTGTGT others(737): Show CTGTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGA TCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGTGTCTGT GTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGT GTCTGTGAGTGCCTGTGTGTGTGTGCATATGTTTGCATAGGCATGTGTGC CTCTGTGTCTGTGTGTGAGATCATGCCTATGTCTATGTGAGTGCCTGTGT GTGTGTGTGTGTCTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGT GTGTCAGATCATGGCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGCGTCT GTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCT GTGTCTGTGAGTGCCTGTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCT CTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGT GTGTGTGCACGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGAGATC ATGGCTGTGTTTGTGTCTGTGAGTCCCTGTGTGTGTGTCTGTGTAGGCAT GTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGA GTGCCTGTGTGTGTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCT GTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG03041.hp2 others(3): Show HG02055.hp2 HG02615.hp2 HG03041.hp2 HG03098.hp1 HG03540.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0004t0003	a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0020 others(3): Show a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0020 a0001c0001t0002g0053 a0001c0001t0010g0019 a0001c0004t0003g0054	6	86	0.0698	744	c.83- others(763): Show c.83-230847_83-230846insTGTGTCTGTGTAGGCATGTGTGCCTC TGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTG TGTGTGTGCATATGTTTGCATAGGCATGTGTGCCTCTGTGTCTGTGTGTG AGATCATGCCTATGTCTATGTGAGTGCCTGTGTGTGTGTGTGTGTCTGTG TGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTCAGATCATGGCTG TGTCTGTGTCTGTGAGTGCCTGTGTGTGCGTCTGTGTAGGCATGTGTGCC TCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTG TGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAG ATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGCACGTCTGTG TAGGCATGTGTGCCTCTGTGTCTGTGTGAGATCATGGCTGTGTTTGTGTC TGTGAGTCCCTGTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTG TGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTG TGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCC TGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGTGTCTGTGTAGGCA TGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTG AGTGCCTGTGTGTGTGTG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OPCML_chr11_132409981_133537501	133082580	A A	ATCCTCTC others(737): Show ATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCACATCCCCCTTCCCCTCCTCCCCTCCTCATTCTC TCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCATCCTCTCCTCCCCCTC GCCCATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCC CATCCCCCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCAT CCCCCTTCCCCTCCTCTCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCC CCTTCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCT TCCCCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCC CCTCCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCT CCTCCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCT CCCCTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCC CTCCTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCTCCTC CTCATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTC ATCCTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCATC CTCTCCTCCCCCTCGCCCATCCCCCTTCCCCTCCTCCCCTCCTCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp2 HG02976.hp1 HG02451.hp2 HG02965.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022	a0001c0001t0010g0066 a0001c0001t0011g0057 a0001c0001t0022g0014 a0001c0001t0010g0066 a0001c0001t0011g0057 a0001c0001t0022g0014	3	68	0.0441	744	c.62- others(763): Show c.62-139571_62-139570insCGAGGAGGGGAGGAGGGGAAGGGGGA TGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGG GCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCG AGGGGGAGGAGAGGATGAGGAGGAGAGGAGGGGAAGGGGGATGGGCGAGG GGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGG AGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGG AGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGA GGATGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGA TGAGGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGA GGAGGGGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGA GGAGAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGG GAGGAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAG GAGGGGAAGGGGGATGGGCGAGGGGGAGGAGAGGATGAGGAGGGGAAGGG GGATGGGCGAGGGGGAGGAGAGAATGAGGAGGGGAGGAGGGGAAGGGGGA TGTGCGAGGGGGAGGAGAGGATGAGGAGGGGAGGAGGGGAAGGGGGATGG GCGAGGGGGAGGAGAGGA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OSGIN1_chr16_83948240_83971332	83950351	A A	ACACACGT others(737): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACACACACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACACGTACACACACATGC ACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACAT GCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTAC ACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACAC GTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCAC ACACGTACATGCACACATGAGCACATGTGCACACATGCACATACACACTG GCACACACGTACACACACATGCACACATGATCACATGTGCACACATGCAC ATACATACCGGCACACGTACACACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02129.hp2 HG03927.hp1 others(2): Show HG02027.hp1 HG02129.hp2 HG03927.hp1 NA18959.hp2 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0004 a0002c0005t0004 a0001c0001t0001 a0001c0002t0004 a0002c0005t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0004g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0004g0005 a0001c0002t0004g0132 a0002c0005t0004g0001	5	350	0.0143	744	c.-30 others(755): Show c.-3052_-3051insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACACACACATGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACACG CACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTA CATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACA CGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATA CTGGCACACGTACATGCACACATGAGCACATGTGCACACATGCACATACA TACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACA TGCACATACACACTGGCACACACGTACACACACATGCACACATGATCACA TGTGCACACATGCACATACATACCGGCACACGTACACACATGCACACATG AACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2888		chr16	TogoVar

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