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
SLA2_chr20_36607318_36651196	36642163	C C	CTCTCAAA others(469): Show CTCTCAAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGC AGGCTTGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGT TATTGGTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTT GCTGAGATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAG CACTTAATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTT TAGGAGTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAA AAGAAACCACAAAAATTAGCCGGCTGTGGTGGCGCACACCTGTAATCCCA GCTATTCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGG AGATGGAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCAC TCCAGCCCAGGCAAGAGTGAGACGCTG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	134	0.0075	476	c.-43 others(491): Show c.-43-786_-43-785insCAGCGTCTCACTCTTGCCTGGGCTGGAGTG CAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCATCTCCC AAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATAGCTGG GATTACAGGTGTGCGCCACCACAGCCGGCTAATTTTTGTGGTTTCTTTTG TAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCCTAAAC TCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAGTGCTC GGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCAGCAAC TCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAATAACA GTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGCCTGCT CAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTTTGAGA	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLA2_chr20_36607318_36651196	36642167	C C	CAAAAAAA others(469): Show CAAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGC TTGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTATT GGTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTG AGATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACT TAATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGG AGTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGA AACCACAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCTAT TCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGATG GAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCAG CCCAGGCAAGAGTGAGACGCTGTCTCA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	245	0.0041	476	c.-43 others(491): Show c.-43-790_-43-789insTGAGACAGCGTCTCACTCTTGCCTGGGCTG GAGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCAT CTCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATA GCTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTGTGGTTTCT TTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCCT AAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAGT GCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCAG CAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAAT AACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGCC TGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLA2_chr20_36607318_36651196	36642167	C C	CAAAAAAA others(469): Show CAAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAGAGGGATCTGAGCAGGCT TGAGAGCTGGTGTCACAGCAAGCCAAGTGACACAGATACACTGTTATTGG TGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTGAG ATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGGCCAAGCACTT AATCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGGAG TTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGAAA CCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCTATT CGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGATGG AGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCAGC CCAGGCAAGAGTGAGACGCTGTCTCAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	245	0.0041	476	c.-43 others(491): Show c.-43-790_-43-789insTTGAGACAGCGTCTCACTCTTGCCTGGGCT GGAGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCA TCTCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAAT AGCTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTT CTTTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTC CTAAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGATTAAG TGCTTGGCCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTC AGCAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCA ATAACAGTGTATCTGTGTCACTTGGCTTGCTGTGACACCAGCTCTCAAGC CTGCTCAGATCCCTCTGCAGACTTTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLA2_chr20_36607318_36651196	36642168	A A	AAAAAAAA others(469): Show AAAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGC TTGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTATT GGTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTG AGATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACT TAATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGG AGTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGA AACCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCTA TTCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGAT GGAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCA GCCCAGGCAAGAGTGAGACGCTGTCTC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	352	0.0028	476	c.-43 others(491): Show c.-43-791_-43-790insGAGACAGCGTCTCACTCTTGCCTGGGCTGG AGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCATC TCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATAG CTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTTCT TTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCCT AAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAGT GCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCAG CAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAAT AACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGCC TGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLA2_chr20_36607318_36651196	36642168	A A	AAAAAAAA others(469): Show AAAAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGC TTGAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTATT GGTGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTG AGATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACT TAATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGG AGTTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGA AACCACAAAAATTAGCCGGCTGCGGTGGCGCACCCCTGTAATCCCAGCTA TTCGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGAT GGAGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCA GCCCAGGCAAGAGTGAGACGCTGTCTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03195.hp2 HG02895.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0166 a0001c0001t0001g0167	2	353	0.0057	476	c.-43 others(491): Show c.-43-791_-43-790insGAGACAGCGTCTCACTCTTGCCTGGGCTGG AGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCATC TCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAATAG CTGGGATTACAGGGGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTTCT TTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTCCT AAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAAGT GCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTCAG CAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCAAT AACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAGCC TGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLA2_chr20_36607318_36651196	36642169	A A	AAAAAAAA others(469): Show AAAAAAAAAAAAAAAAAAAAAAAGTCTGCAAGAGGGATCTGAGCAGGCTT GAGAGCTGGTGTCACAGCAAGCCAAGGTGACACAGATACACTGTTATTGG TGTCACAGGGCCAAGTAAGAGTACTTGTCTCAGCCTCCTGAGTTGCTGAG ATTACAGGCATGAGCCACCAGGCCCGATACTTTAAGAGGCCGAGCACTTA ATCCCAGCACTTGAAGCGGCTGAGAAGGGTGGATTGCTTGAGTTTAGGAG TTCTAGACCAGCCTGGCCAGCATGGCAAAATCTAGTCTCTACAAAAGAAA CCACAAAAATTAGCCGGCTGCGGTGGCGCACACCTGTAATCCCAGCTATT CGGGAGGCTGAGGTGGGAGGGCGGGAGGATTGCTTGAGCTTGGGAGATGG AGTTCACAGTGAGCCAAGATCATACCACAGTTAGTCAACTGCACTCCAGC CCAGGCAACAGAGTGAGACGCTGTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp1 NA21309.hp2 HG01884.hp2 HG02970.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353	3	356	0.0084	476	c.-43 others(491): Show c.-43-792_-43-791insGAGACAGCGTCTCACTCTGTTGCCTGGGCT GGAGTGCAGTTGACTAACTGTGGTATGATCTTGGCTCACTGTGAACTCCA TCTCCCAAGCTCAAGCAATCCTCCCGCCCTCCCACCTCAGCCTCCCGAAT AGCTGGGATTACAGGTGTGCGCCACCGCAGCCGGCTAATTTTTGTGGTTT CTTTTGTAGAGACTAGATTTTGCCATGCTGGCCAGGCTGGTCTAGAACTC CTAAACTCAAGCAATCCACCCTTCTCAGCCGCTTCAAGTGCTGGGATTAA GTGCTCGGCCTCTTAAAGTATCGGGCCTGGTGGCTCATGCCTGTAATCTC AGCAACTCAGGAGGCTGAGACAAGTACTCTTACTTGGCCCTGTGACACCA ATAACAGTGTATCTGTGTCACCTTGGCTTGCTGTGACACCAGCTCTCAAG CCTGCTCAGATCCCTCTTGCAGACTTTTTTTTTTTTTTTTTTTTTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	1/7			chr20	TogoVar
SLC12A7_chr5_1045384_1117063	1073173	G G	GAGCCCCC others(469): Show GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCC CCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCA CACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATG CAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCC CCCAGCACACGGGCATCACACTTATGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0112 a0001c0032t0001g0112	1	98	0.0102	476	c.224 others(493): Show c.2241+459_2241+460insGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGG GGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCAC TGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGCTGC ATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGT GATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCG TGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGG GCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACT GGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SNTG2_chr2_945849_1372613	1221580	G G	GTCTCTCT others(469): Show GTCTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCT GCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCT GTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCT CTCTGTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCT TTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCT CTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCT CTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCT CTCTCTGTCCCTTTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCT GTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCT CTGTTTCTCTCTGTCTCTGTCTCTATC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0116 a0003c0007t0001g0116	1	151	0.0066	476	c.719 others(495): Show c.719+12353_719+12354insCTCTGTCACTGTCTCTGCCTCTGTCT CTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCT CAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCT CTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTCTCTGT CTCTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGT CTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCT CTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCT CTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTGT CTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCT GTCTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTATCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(469): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATACAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0089 a0001c0005t0002g0089	1	111	0.0090	476	c.-11 others(497): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TACAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(469): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02148.hp1 NA19002.hp2 others(2): Show HG02027.hp1 HG02148.hp1 NA19002.hp2 NA19065.hp1 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0008c0017	a0001c0001t0004 a0001c0001t0022 a0001c0002t0009 others(2): Show a0001c0001t0004 a0001c0001t0022 a0001c0002t0009 a0001c0009t0007 a0008c0017t0042	a0001c0001t0004g0128 a0001c0001t0022g0256 a0001c0002t0009g0319 others(2): Show a0001c0001t0004g0128 a0001c0001t0022g0256 a0001c0002t0009g0319 a0001c0009t0007g0115 a0008c0017t0042g0095	5	115	0.0435	476	c.-11 others(497): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(469): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATATAACATATG	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19009.hp1 NA19010.hp2 others(1): Show HG03710.hp2 NA19009.hp1 NA19010.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0002t0016 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0016 a0001c0004t0013	a0001c0001t0002g0117 a0001c0001t0006g0006 a0001c0002t0016g0182 others(1): Show a0001c0001t0002g0117 a0001c0001t0006g0006 a0001c0002t0016g0182 a0001c0004t0013g0305	4	57	0.0702	476	c.-11 others(497): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATATAACATATGA TA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPOCK3_chr4_166728384_167239494	167109041	C C	CTTATATA others(469): Show CTTATATAAAAATATATATAAATATATACTTATATAAAAATATATATAAA TATATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATA TATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAA AATATATATAAATATATATTTATATAAAAATATATATAAATATATATTTA TATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATA TATTTATATAAAAATATATATAAATATATATTTATATAAAAATATATATA AATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATA TATATAAATATATATTTATATAAAAATATATATAAATATATATTTATATA AAAATATATATAAATATATATTTATATAAAAATATATATAAATATATATT TATATAAAAATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	69	0.0145	476	c.190 others(495): Show c.190-46505_190-46504insATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTTTATATAAATATATATTTATAT ATATTTTTATATAAATATATATTTATATATATTTTTATATAAATATATAT TTATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAAT ATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTAT ATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATAT TTTTATATAAATATATATTTATATATATTTTTATATAAATATATATTTAT ATATATTTTTATATAAATATATATTTATATATATTTTTATATAAGTATAT ATTTATATATATTTTTATATAAGTATATATTTATATATATTTTTATATAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(469): Show GATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCATA TATAATATATGATTATAAAATATAATCATATATTATATATGATTATAAAA TATAATCATATATTATATATGATTATAAAATATAATCATATATTATATAT GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATTATATATGATTATAA AATATAATTATATATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	9	0.1111	476	c.75 others(487): Show c.7501_*7502insATTATAAAATATAATCATATATAATATATGATTA TAAAATATAATCATATATAATATATGATTATAAAATATAATCATATATTA TATATGATTATAAAATATAATCATATATTATATATGATTATAAAATATAA TCATATATTATATATGATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(469): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTAT ATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATAT ATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATAT ACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	87	0.0115	476	c.271 others(493): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACACACGTATATATATACACGTGTATATATACACACA CGTATATATATACACGTGTATATATACACACACGTATATATATACACGTG TATATATACACACACGTATATATATACACGTGTATATATACACGTATATA TATACACGTATATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(469): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCA CCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTA TCCACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCATCTGCCA TCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATC ATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATC ATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCAT CCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTA CCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTA CCCATCCATCCTATCCATCCACCCATC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp1 HG02257.hp2 others(7): Show HG00639.hp1 HG02145.hp1 HG02257.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0036	a0001c0001t0001g0004 a0001c0001t0001g0153 a0001c0001t0002g0015 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0153 a0001c0001t0002g0015 a0001c0001t0002g0025 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0001t0002g0191 a0001c0001t0004g0189 a0001c0001t0014g0052 a0001c0001t0036g0190	10	37	0.2703	476	c.113 others(495): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCAC CCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCCA CCCACCAACCCACCATCTGCCATCCTATCCACCCACCCACCCACCATCCA CCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACAC CCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCAC TATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTC ACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCC ATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46772316	T T	TACACATA others(469): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACACACATATATATGTATACACACACATATATATGTATA CACACATACATATATATGTATACACACACATATATATGTATACACACACA TATATATGTATACACACATACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0101 a0001c0001t0004g0101	1	96	0.0104	476	c.62+ others(491): Show c.62+9469_62+9470insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACATACACATATATATGTATACACACACACATATATATGTATACA CACACATATATATGTATACACACATACATATATATGTATACACACACATA TATATGTATACACACACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82905749	T T	TCGTCCGT others(469): Show TCGTCCGTGTGTGCACGCCGTCGCCTGCCCTCCCGGCCCTGTGTGGGTGC GTGTGGGCTTCCCACAGGTCGTCCGTGTGTGCACGCCGTCGCCTGCCCTC CCGGCCCTGTGTGGGTGCGTGTGGGCTTCCCACAGGTCGTCCGTGTGTGC ACGCCGTCGCCTGCCCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTTCCCA CAGGTCGTCCGTGTGTGCACGCCGTCGCCTGCCCTCCCGGCCCTGTGTGG GTGCGTGTGGGCTTCCCACAGGTCGTCCGTGTGTGCACGCCGTCGCCTGC CCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTTCCCACAGGTCGTCCGTGT GTGCACGCCGTCGCCTGCCCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTT CCCACAGGTCGTCCGTGTGTGCACGCCGTCGCCTGCCCTCCCGGCCCTGT GTGGGTGCGTGTGGGCTTCCCACAGGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02145.hp1 others(3): Show HG01168.hp1 HG01169.hp1 HG02145.hp1 HG02965.hp1 HG02970.hp2 NA19030.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0038 a0002c0010t0009 a0002c0010t0038	a0002c0010t0009g0148 a0002c0010t0009g0149 a0002c0010t0009g0150 others(3): Show a0002c0010t0009g0148 a0002c0010t0009g0149 a0002c0010t0009g0150 a0002c0010t0009g0151 a0002c0010t0009g0166 a0002c0010t0038g0291	6	277	0.0217	476	c.180 others(493): Show c.1805-120_1805-119insTCGTCCGTGTGTGCACGCCGTCGCCTGC CCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTTCCCACAGGTCGTCCGTGT GTGCACGCCGTCGCCTGCCCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTT CCCACAGGTCGTCCGTGTGTGCACGCCGTCGCCTGCCCTCCCGGCCCTGT GTGGGTGCGTGTGGGCTTCCCACAGGTCGTCCGTGTGTGCACGCCGTCGC CTGCCCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTTCCCACAGGTCGTCC GTGTGTGCACGCCGTCGCCTGCCCTCCCGGCCCTGTGTGGGTGCGTGTGG GCTTCCCACAGGTCGTCCGTGTGTGCACGCCGTCGCCTGCCCTCCCGGCC CTGTGTGGGTGCGTGTGGGCTTCCCACAGGCCGTCCGTGTGTGCACGCCG TCGCCTGCCCTCCCGGCCCTGTGTGGGTGCGTGTGGGCTTCCCACAGG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	19/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
THSD4_chr15_71110471_71788383	71199783	G G	GGTGTGTG others(469): Show GGTGTGTGCTGTGTGTGTGCTGTGTGTGTGCTGTGTGTGTGTGATGCACG TGTGGGGTGTGTGTGTGTGTGCTGTGTGTGATGCATGTGTGGGGTGTGTG TGTGTGTGTGGGGTGTGTGTGGGGTGTGTGGTGTGTGTATGTGTGGTGTG TGTATGTGGTGTGTGTGTAGTGTGTGTGTGTGGGTGTGTGTGATGTATGG TGTGTGTGGTGTGTGGGTGTGTGGTGTGTGTGGTGTGTGTGTGGTGTGTG TGTGTGATGCATGTGTGGAGGGTGTGTGTGTGTGTGGTGTGTGTGTGGTG CATGTGTGGTATGTGTGTGTGATGCATGTGTGTGTGGTGTGTGTGGGTGT GTGTGATGTGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGGGTGTGTGGTG TGTGTGTGTAGTGTGTGTGTAGTGTGTGTGGGTGTGTGTGATGTGTGTGG TGTGTGTGGTGTGTGGGTGTGTGCTGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0085 a0001c0001t0009g0085	1	79	0.0127	476	c.100 others(495): Show c.100-15223_100-15222insCTGTGTGTGTGTGATGCACGTGTGGG GTGTGTGTGTGTGTGCTGTGTGTGATGCATGTGTGGGGTGTGTGTGTGTG TGTGGGGTGTGTGTGGGGTGTGTGGTGTGTGTATGTGTGGTGTGTGTATG TGGTGTGTGTGTAGTGTGTGTGTGTGGGTGTGTGTGATGTATGGTGTGTG TGGTGTGTGGGTGTGTGGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGTG ATGCATGTGTGGAGGGTGTGTGTGTGTGTGGTGTGTGTGTGGTGCATGTG TGGTATGTGTGTGTGATGCATGTGTGTGTGGTGTGTGTGGGTGTGTGTGA TGTGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGGGTGTGTGGTGTGTGTG TGTAGTGTGTGTGTAGTGTGTGTGGGTGTGTGTGATGTGTGTGGTGTGTG TGGTGTGTGGGTGTGTGCTGTGTGTGTGCTGTGTGTGTGCTGTGTGTGTG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMEM242_chr6_157284025_157328519	157310941	T T	TGTCCCAG others(469): Show TGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTGCCAGTGTGCACT CACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCAT AGTGCCCCAGTGTGCACTCACCTGACCTAATCATAGTGTCCCAGTGAGCA CTCACCTGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCATC ATAGTGGCCCAGTATCCGATCACCTAGATTCATCATACTGCCCCAGTGTG TGCTCACCTAGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTCA TCACAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTG TACACACACCTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCCT CATCAGAGTGCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCAG TGTGCACTCACCCGGCCTCATCATAGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0175 a0002c0002t0005g0175	1	205	0.0049	476	c.327 others(493): Show c.327+7840_327+7841insCCTATGATGAGGCCGGGTGAGTGCACAC TGGGACCCTATGATGAGGCCGGGTGAGTGCACACTGGGGCACTCTGATGA GGCTAGGTGAGCGCACACTGGGACACCATGATGAGGCCAGGTGTGTGTAC ACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGGCACTGTGAT GAGGCTAGGTGAGTGCACACTGGGACACTGTGATGAGGCTAGGTGAGCAC ACACTGGGGCAGTATGATGAATCTAGGTGATCGGATACTGGGCCACTATG ATGAGGCTAGGTAAGCGGACACTGGGACACTATGATTAGGCCAGGTGAGT GCTCACTGGGACACTATGATTAGGTCAGGTGAGTGCACACTGGGGCACTA TGATGAGGCCAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGA GTGCACACTGGCACACTATGATGAGGCTAGGTTAGCGCATACTGGGAC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157310941	T T	TGTCCCAG others(469): Show TGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTGCCAGTGTGCACT CACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCAT AGTGCCCCAGTGTGCACTCACCTGGCCTAATCATAGTGTCCCAGTGAGCA CTCACCTGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCATC ATAGTGGCCCAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGTG TGCTCACCTAGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTCA TCACAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTG TACACACACCTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCCT CATCAGAGTGCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCAG TGTGCACTCACCCGGCCTCATCATAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp2 others(95): Show HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG01167.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG03041.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18990.hp1 NA18994.hp1 NA18997.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19062.hp1 NA19064.hp1 NA19068.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0007 a0001c0001 a0003c0006 a0004c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(10): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0003c0006t0002 a0004c0007t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(89): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0182 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0011g0193 a0001c0001t0011g0203 a0001c0001t0011g0216 a0001c0001t0011g0223 a0001c0001t0014g0184 a0001c0001t0014g0185 a0001c0001t0014g0247 a0001c0001t0015g0253 a0001c0001t0015g0254 a0001c0001t0015g0255 a0001c0001t0018g0271 a0001c0001t0019g0252 a0001c0001t0019g0257 a0001c0001t0033g0221 a0001c0001t0034g0200 a0001c0001t0035g0228 a0001c0001t0036g0188 a0003c0006t0002g0266 a0004c0007t0002g0325	98	302	0.3245	476	c.327 others(493): Show c.327+7840_327+7841insCCTATGATGAGGCCGGGTGAGTGCACAC TGGGACCCTATGATGAGGCCGGGTGAGTGCACACTGGGGCACTCTGATGA GGCTAGGTGAGCGCACACTGGGACACCATGATGAGGCCAGGTGTGTGTAC ACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGGCACTGTGAT GAGGCTAGGTGAGTGCACACTGGGACACTGTGATGAGGCTAGGTGAGCAC ACACTGGGGCACTATGATGAATCTAGGTGATCGGATACTGGGCCACTATG ATGAGGCTAGGTAAGCGGACACTGGGACACTATGATTAGGCCAGGTGAGT GCTCACTGGGACACTATGATTAGGCCAGGTGAGTGCACACTGGGGCACTA TGATGAGGCCAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGA GTGCACACTGGCACACTATGATGAGGCTAGGTTAGCGCATACTGGGAC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157310941	T T	TGTCCCAG others(469): Show TGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTGCCAGTGTGCACT CACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCAT AGTGCCCCAGTGTGCACTCACCTGGCCTAATCATAGTGTCCCAGTGAGCA CTCACCTGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCATC ATAGTGGCCCAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGTG TGCTCACCTAGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTCA TCACAGTGCCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTG TACACACACCTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCCT CATCAGAGTGCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCAG TGTGCACTCACCCGGCTTCATCATAGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp1 NA20300.hp1 HG02630.hp1 HG03540.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308	3	207	0.0145	476	c.327 others(493): Show c.327+7840_327+7841insCCTATGATGAAGCCGGGTGAGTGCACAC TGGGACCCTATGATGAGGCCGGGTGAGTGCACACTGGGGCACTCTGATGA GGCTAGGTGAGCGCACACTGGGACACCATGATGAGGCCAGGTGTGTGTAC ACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGGCACTGTGAT GAGGCTAGGTGAGTGCACACTGGGACACTGTGATGAGGCTAGGTGAGCAC ACACTGGGGCACTATGATGAATCTAGGTGATCGGATACTGGGCCACTATG ATGAGGCTAGGTAAGCGGACACTGGGACACTATGATTAGGCCAGGTGAGT GCTCACTGGGACACTATGATTAGGCCAGGTGAGTGCACACTGGGGCACTA TGATGAGGCCAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGA GTGCACACTGGCACACTATGATGAGGCTAGGTTAGCGCATACTGGGAC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157310941	T T	TGTCCCAG others(469): Show TGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTGCCAGTGTGCACT CACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCAT AGTGCCCCAGTGTGCACTCACCTGGCCTAATCATAGTGTCCCAGTGAGCA CTCACCTGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCATC ATAGTGGCCCAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGTG TGCTCACCTAGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTCA TCACAGTGCCCCAGTGTGCGCTCACCTGGCCTCATCATAGTGTCCCAGTG TACACACACCTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCCT CATCAGAGTGCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCAG TGTGCACTCACCCGGCCTCATCATAGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03516.hp2 HG03942.hp2 HG01258.hp2 HG03516.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0012g0115 a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0012g0115	3	207	0.0145	476	c.327 others(493): Show c.327+7840_327+7841insCCTATGATGAGGCCGGGTGAGTGCACAC TGGGACCCTATGATGAGGCCGGGTGAGTGCACACTGGGGCACTCTGATGA GGCTAGGTGAGCGCACACTGGGACACCATGATGAGGCCAGGTGTGTGTAC ACTGGGACACTATGATGAGGCCAGGTGAGCGCACACTGGGGCACTGTGAT GAGGCTAGGTGAGTGCACACTGGGACACTGTGATGAGGCTAGGTGAGCAC ACACTGGGGCACTATGATGAATCTAGGTGATCGGATACTGGGCCACTATG ATGAGGCTAGGTAAGCGGACACTGGGACACTATGATTAGGCCAGGTGAGT GCTCACTGGGACACTATGATTAGGCCAGGTGAGTGCACACTGGGGCACTA TGATGAGGCCAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGA GTGCACACTGGCACACTATGATGAGGCTAGGTTAGCGCATACTGGGAC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157310941	T T	TGTCCCAG others(469): Show TGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTGCCAGTGTGCACT CACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCAT AGTGCCCCAGTGTGCACTCACCTGGCCTAATCATAGTGTCCCAGTGAGCA CTCACCTGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCATC ATAGTGGCCCAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGTG TGCTCACCTAGCCTCATCACAGTGTCCCAGTGTGCACTCACCTAGCCTCA TCACAGTGCCCCAGTGTGCGCTCACCTGGCCTCATCATAGTGTCCCAGTG TACACACACCTGGCCTCATCATGGTGTCCCAGTGTGCGCTCACCTAGCCT CATCATAGTGCCCCAGTGTGCACTCACCCGGCCTCATCATAGGGTCCCAG TGTGCACTCACCCGGCCTCATCATAGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(28): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG01070.hp1 HG01071.hp1 HG02027.hp1 HG02145.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02896.hp1 HG03831.hp2 HG03834.hp1 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18974.hp2 NA18980.hp1 NA18998.hp1 NA19000.hp2 NA19009.hp2 NA19062.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0006 a0001c0001t0030 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0030 a0001c0003t0010 a0001c0003t0026	a0001c0001t0004g0078 a0001c0001t0004g0080 a0001c0001t0004g0081 others(28): Show a0001c0001t0004g0078 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0097 a0001c0001t0004g0099 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0006g0075 a0001c0001t0006g0079 a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0084 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0098 a0001c0001t0030g0076 a0001c0003t0010g0065 a0001c0003t0026g0066	31	235	0.1319	476	c.327 others(493): Show c.327+7840_327+7841insCCTATGATGAGGCCGGGTGAGTGCACAC TGGGACCCTATGATGAGGCCGGGTGAGTGCACACTGGGGCACTATGATGA GGCTAGGTGAGCGCACACTGGGACACCATGATGAGGCCAGGTGTGTGTAC ACTGGGACACTATGATGAGGCCAGGTGAGCGCACACTGGGGCACTGTGAT GAGGCTAGGTGAGTGCACACTGGGACACTGTGATGAGGCTAGGTGAGCAC ACACTGGGGCACTATGATGAATCTAGGTGATCGGATACTGGGCCACTATG ATGAGGCTAGGTAAGCGGACACTGGGACACTATGATTAGGCCAGGTGAGT GCTCACTGGGACACTATGATTAGGCCAGGTGAGTGCACACTGGGGCACTA TGATGAGGCCAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGA GTGCACACTGGCACACTATGATGAGGCTAGGTTAGCGCATACTGGGAC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311788	G G	GGGTGCGC others(469): Show GGGTGCGCTCATCTGGCCTCATGATAGTGTCGCAGTGTGCACTCACCTAA CGTCATCATAGTGTCCCAGTGTGCAATCACCTAGCCTCATCATAGTGCGC CAGTGTCCGCTCACCTAGCCTCAAGAAAGTGTCCCAGTGTGTGCTCACCT AGCCTCATCACAGTGCCCCAGTCGGCGCTCACCTAGCCTCATCATAGTGC CCCATTGTTCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCAC CTGGCCTCATAATAGTGTCCCAGTGTGCGCTCACCGTGCTTCATCATAGT GAACCAGTGTGCGCTCACCTAGCCTCATTATAGTGTCCCAGTGTGCGCTC ACCCGGCCTCATCATAGTGTCACAGTGTACACTCACCTAGACTCATCATA ATGCCCCAGTATCCGCTCACCTAGCCTCATCATAGTGTCCCAGGGAGCGC TCACCCGGCCTCATCATAGTGCCCCAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG04184.hp1 HG02132.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0180 a0001c0001t0001g0138 a0001c0001t0001g0180	2	292	0.0068	476	c.327 others(493): Show c.327+6993_327+6994insGTGGGGCACTATGATGAGGCCGGGTGAG CGCTCCCTGGGACACTATGATGAGGCTAGGTGAGCGGATACTGGGGCATT ATGATGAGTCTAGGTGAGTGTACACTGTGACACTATGATGAGGCCGGGTG AGCGCACACTGGGACACTATAATGAGGCTAGGTGAGCGCACACTGGTTCA CTATGATGAAGCACGGTGAGCGCACACTGGGACACTATTATGAGGCCAGG TGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGCGAACAATGGGG CACTATGATGAGGCTAGGTGAGCGCCGACTGGGGCACTGTGATGAGGCTA GGTGAGCACACACTGGGACACTTTCTTGAGGCTAGGTGAGCGGACACTGG CGCACTATGATGAGGCTAGGTGATTGCACACTGGGACACTATGATGACGT TAGGTGAGTGCACACTGCGACACTATCATGAGGCCAGATGAGCGCACC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TOLLIP_chr11_1269371_1314632	1287395	G G	GCCTCCCC others(469): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0110 a0001c0002t0012g0110	1	323	0.0031	476	c.519 others(493): Show c.519+1228_519+1229insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCCCAC others(469): Show CGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCAGCCTCCCCG CCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCC GCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTC CCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGC AGCCTCCCCGCCGCACCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCTC TGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCG CCGCACCCTCCCTGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19007.hp2 NA19090.hp2 NA18962.hp2 NA19007.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0145 a0001c0002t0002g0018 a0001c0002t0002g0145	3	164	0.0183	476	c.519 others(491): Show c.519+787_519+788insAGAGAGGGTGCGGCAGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCAGAG AGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGGTGCGGCGGGGAGGCTGCG GCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAG GGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGC GGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGG TGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287848	C C	CCCGCCGC others(469): Show CCCGCCGCACCCTCCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCG CACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCG CCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCC GCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTC TCTGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGC AGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCC CGCCGCACCCTCCCTGCCGCACCCTCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	317	0.0032	476	c.519 others(491): Show c.519+775_519+776insAGAGGGTGCGGCAGGGAGGGTGCGGCGGGG AGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCG GCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCAGAGAG GGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGC GGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGG TGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGG GGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTG CGGCGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGG CGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGGAGGGTGCGGCGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287848	C C	CCCGCCGC others(469): Show CCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGC ACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCC CGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCG CCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCC GCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTC TCTGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGC AGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCC CGCCGCACCCTCCCTGCCGCACCCTCT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	317	0.0032	476	c.519 others(491): Show c.519+775_519+776insAGAGGGTGCGGCAGGGAGGGTGCGGCGGGG AGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCG GCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCAGAGAG GGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGC GGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGG TGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGG GGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTG CGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGG AGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCG GCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930701	T T	TAGGGAGG others(469): Show TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGAC CAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTC AGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAG AGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGG CCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAG GGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGA AGGCCGGGGTTAGGGAGACCAAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA19054.hp2 NA19089.hp1 NA18949.hp1 NA19054.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0004 a0001c0001t0001 a0001c0006t0004	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0006t0004g0073 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0006t0004g0073	3	448	0.0067	476	c.48 others(487): Show c.4889_*4890insGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAAC CCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTT GGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAAC CCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4668		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930701	T T	TAGGGAGG others(469): Show TAGGGAGGCTGGGGTTGGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGA CCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGTTAGGGAGGCC GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGACCAAGGGTCAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGAC CAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCGGGGTCA GGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGGTTAGGA AGGCCGGGGTTAGGGAGACCAAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03540.hp1 HG02647.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	2	447	0.0045	476	c.48 others(487): Show c.4889_*4890insGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAAC CCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCC GGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGTCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC CTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCT AACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAAC CCCAGCCTCCCTAACCCCGGCCTCCCCAACCCCAGCCTCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4668		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507456	A A	ATATGTAT others(469): Show ATATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATA TACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTA TACATACGTAAATGTATATATGTATATATACATTATACATACGTAAATGT ATATATGTATATATACATTATACATACGTAAATGTATATATGTATATATA CATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATA TACATTATACATACGTAAATGTATAATGTATATATACATTATACATACGT AAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATA TATACATTATACATACGTAAATGTATGTATATATACATTATACATACGTA AATGTATTATACATAAATGTATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	30	0.0333	476	c.-23 others(493): Show c.-23+2591_-23+2592insCATATATACATTTATGTATAATACATTT ACGTATGTATAATGTATATATACATACATTTACGTATGTATAATGTATAT ATACATTATACATTTACGTATGTATAATGTATATATACATTATACATTTA CGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATTATACATT TACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGT ATATATACATATATACATTTACGTATGTATAATGTATATATACATATATA CATTTACGTATGTATAATGTATATATACATATATACATTTACGTATGTAT AATACATGTATATATACATATATACATTTACGTATGTATAATACATGTAT ATATACATATATACATTTACGTATGTATAATACATGTATATATACATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	AATCACCC others(469): Show AATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATC ACCCCTGGATTAATCCCCCATCACCCCTGGATTAATACCCCATCACCCCT GGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATT AATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATAC CCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAA TCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCAC CCCTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCCATCACCCCTG GATTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATT AATCCCCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATC CCCCCATCAGCCCTGGATTAATACCCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18906.hp1 NA19240.hp2 HG02970.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0020 a0001c0039 a0001c0020 a0001c0039	a0001c0020t0001 a0001c0039t0001 a0001c0020t0001 a0001c0039t0001	a0001c0020t0001g0208 a0001c0020t0001g0219 a0001c0039t0001g0221 a0001c0020t0001g0208 a0001c0020t0001g0219 a0001c0039t0001g0221	3	161	0.0186	476	c.141 others(495): Show c.1418-5688_1418-5687insTGGATTAATCCCCCAATCACCCCTGG ATTAATCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCC CATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATACCCCATCAC CCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCT GGATTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGAT TAATCCCCCCATCAGCCCTGGATTAATACCCCATCACCCCTGGATTAATC CCCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCC AATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATC AGCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(469): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCC TTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTC CCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTC CCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19067.hp2 NA18943.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0194 a0001c0001t0001g0195	2	9	0.2222	476	c.657 others(491): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCC TTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTC CCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTC CTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTN_chr2_178520989_178812423	178757157	A A	ACAGTAAG others(469): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATAC TGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAG TAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0045 a0045	a0045c0063 a0045c0063	a0045c0063t0002 a0045c0063t0002	a0045c0063t0002g0155 a0045c0063t0002g0155	1	218	0.0046	476	c.106 others(495): Show c.10679-361_10679-360insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGT AAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTG CACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTA TTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGT AAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG TACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTA TTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGT AAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178520989_178812423	178757157	A A	ACAGTAAG others(469): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATAC TGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAG TAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19084.hp1 HG02027.hp1 NA19084.hp1	a0065 a0178 a0065 a0178	a0065c0118 a0178c0162 a0065c0118 a0178c0162	a0065c0118t0001 a0178c0162t0002 a0065c0118t0001 a0178c0162t0002	a0065c0118t0001g0218 a0178c0162t0002g0023 a0065c0118t0001g0218 a0178c0162t0002g0023	2	219	0.0091	476	c.106 others(495): Show c.10679-361_10679-360insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGT AAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTG CACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTA TTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGT AAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG TACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTA TTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGT AAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178520989_178812423	178757157	A A	ACAGTAAG others(469): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATAC TGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAG TAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0006 a0006	a0006c0065 a0006c0065	a0006c0065t0003 a0006c0065t0003	a0006c0065t0003g0151 a0006c0065t0003g0151	1	218	0.0046	476	c.106 others(495): Show c.10679-361_10679-360insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGT AAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTG CACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTA TTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGT AAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTG TACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTA TTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGT AAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178520989_178812423	178757187	A A	ACAGTAAG others(469): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGCAAGTAATACTGTACTTACTTTAAGT ACAGCAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATAC TGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAG TAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0008 a0008	a0008c0003 a0008c0003	a0008c0003t0002 a0008c0003t0002	a0008c0003t0002g0154 a0008c0003t0002g0154	1	236	0.0042	476	c.106 others(495): Show c.10678+354_10678+355insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAAGT AAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTG CACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTA TTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGT AAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTGCTG TACTTAAAGTAAGTACAGTATTACTTGCTGTACTTAAAGTAAGTACAGTA TTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGT AAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178520989_178812423	178757187	A A	ACAGTAAG others(469): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATAC TGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAG TAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0039 a0039	a0039c0161 a0039c0161	a0039c0161t0002 a0039c0161t0002	a0039c0161t0002g0065 a0039c0161t0002g0065	1	236	0.0042	476	c.106 others(495): Show c.10678+354_10678+355insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAAGT AAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTG CACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTA TTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGT AAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG TACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTA TTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGT AAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178739405_178812423	178757157	A A	ACAGTAAG others(469): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATAC TGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAG TAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18977.hp1 NA18986.hp2 others(2): Show HG01099.hp2 NA18977.hp1 NA18986.hp2 NA18995.hp2 NA18998.hp2	a0005 a0007 a0005 a0007	a0005c0005 a0007c0008 a0005c0005 a0007c0008	a0005c0005t0003 a0007c0008t0003 a0005c0005t0003 a0007c0008t0003	a0005c0005t0003g0010 a0007c0008t0003g0063 a0007c0008t0003g0108 a0005c0005t0003g0010 a0007c0008t0003g0063 a0007c0008t0003g0108	5	338	0.0148	476	c.103 others(497): Show c.10303+1826_10303+1827insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAA GTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTAC TGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TTN_chr2_178739405_178812423	178757157	A A	ACAGTAAG others(469): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATAC TGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAG TAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19084.hp1 HG02027.hp2 NA19084.hp1	a0007 a0045 a0007 a0045	a0007c0008 a0045c0062 a0007c0008 a0045c0062	a0007c0008t0003 a0045c0062t0003 a0007c0008t0003 a0045c0062t0003	a0007c0008t0003g0062 a0045c0062t0003g0284 a0007c0008t0003g0062 a0045c0062t0003g0284	2	335	0.0060	476	c.103 others(497): Show c.10303+1826_10303+1827insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAA GTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTAC TGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAG TATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TTN_chr2_178739405_178812423	178757157	A A	ACAGTAAG others(469): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAATAC TGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAG TAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0214 a0005c0005t0003g0214	1	334	0.0030	476	c.103 others(497): Show c.10303+1826_10303+1827insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAA GTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTAC TGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAG TATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAA GTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTAC TGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TTN_chr2_178739405_178812423	178757187	A A	ACAGTAAG others(469): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGCAAGTAATACTGTACTTACTTTAAGT ACAGCAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATAC TGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAG TAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0218 a0005c0005t0003g0218	1	360	0.0028	476	c.103 others(497): Show c.10303+1796_10303+1797insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAA GTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTAC TGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAG TATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTGC TGTACTTAAAGTAAGTACAGTATTACTTGCTGTACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TTN_chr2_178739405_178812423	178757187	A A	ACAGTAAG others(469): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATAC TGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAG TAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0106 a0007c0008t0003g0106	1	360	0.0028	476	c.103 others(497): Show c.10303+1796_10303+1797insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAA GTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTAC TGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAG TATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAG TATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAA GTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTAC TG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(469): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAATAT TTATATATATTTATGTAATATATAATATTTATATATATTTATGTAATATA TAATATTTATATATTATATTTATGTAATATATAATATATATTTATATATT ATATTTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	59	0.0169	476	c.213 others(495): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATT ATATATTACATAAATATATATAAATATTATATATTACATAAATATATATA AATATTATATATTACATAAATATATATAAATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATAATATATAAATATTATAT ATTACATAAATATAATATATAAATATTATATATTACATAAATATAATATA TAAATATTATATATTACATAAATATAATATATAAATATTATATATTACAT AAATATAATATATAAATATTATATATTACATAAATATAATATATAAATAT TATATATTACATAAATATAATATATAATATATATTATATATTACATAAAT ATAATATATAATATATATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(469): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	177	0.0056	476	c.53+ others(491): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(469): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC TCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCT CTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCC CTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCC CCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTC CCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCCCT CACCCTCTCCCCCTCCCCCTCTCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01361.hp1 HG01074.hp2 HG01361.hp1	a0003 a0003	a0003c0003 a0003c0019 a0003c0003 a0003c0019	a0003c0003t0012 a0003c0019t0021 a0003c0003t0012 a0003c0019t0021	a0003c0003t0012g0025 a0003c0019t0021g0024 a0003c0003t0012g0025 a0003c0019t0021g0024	2	34	0.0588	476	c.53- others(489): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCTCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCT CCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCC CTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTC CCCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCT CCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTCT CCCCCTCACCCTCTCCCCCTCCCCCTCTCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR64_chr1_241647281_241807777	241675014	T T	TCCCTCCC others(469): Show TCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCT GCCTCCCTCCCTCCTTCCTTCCTCCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTCCCTCCCTCCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC TCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCT CCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCC CTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTTCCTCCC TCCCTCCCTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0272	1	237	0.0042	476	c.483 others(491): Show c.483+267_483+268insCCCTCCCTCCTGCCTCCCTCCCTCCCTCCT GCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCTCCTTCCTCCC TCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCT CCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCC CTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCC TCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WNK2_chr9_93179139_93325569	93208749	G G	GTGTTTTG others(469): Show GTGTTTTGTGTGTGTTCATGTGTGCATGTTCTTGCATGTGTTCTGTGTGT TCATGTGTGTTCTGTGTATTCTTTGTGTGTGTTCGTGTGTCAGTGTGTTC TGTGTGTTATTCATGTGTCCATGTGTTCTGTGTATGTTCATGTGTGTGTG TTCTGTGTTTTTTTTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTTCTGT GTTTTTGTGTGTGTTCTTCGTGTGTGTGTTCTGTATGTTTTTTGTATGTG CGTGTTCTGTGTTCATGTGTTCTGTGTGTTCTTTGTGTGTGTTCTGTGTG CTCTTCCTGTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTTCGTGTG TGTGTTATTCATGTGTGTGTTCTGTGTGTTCTTTGTATGTGTTCTGTGTT TTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTGTGTTCTGTGTGTTCTTC GTGTGTGTGTTCTGTGTGTTGTCTGCA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	137	0.0073	476	c.682 others(495): Show c.682-20944_682-20943insTTTGTGTGTGTTCATGTGTGCATGTT CTTGCATGTGTTCTGTGTGTTCATGTGTGTTCTGTGTATTCTTTGTGTGT GTTCGTGTGTCAGTGTGTTCTGTGTGTTATTCATGTGTCCATGTGTTCTG TGTATGTTCATGTGTGTGTGTTCTGTGTTTTTTTTGTGTGTGTGTTCTGT GTGTTCTTTGTGTGTTCTGTGTTTTTGTGTGTGTTCTTCGTGTGTGTGTT CTGTATGTTTTTTGTATGTGCGTGTTCTGTGTTCATGTGTTCTGTGTGTT CTTTGTGTGTGTTCTGTGTGCTCTTCCTGTGTGTGTTCTGTGTGTTCTTC GTGTGTGTGTTCTTCGTGTGTGTGTTATTCATGTGTGTGTTCTGTGTGTT CTTTGTATGTGTTCTGTGTTTTGTGTGTGTGTTCTGTGTGTTCTTTGTGT GTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTGTGTGTTGTCTGCATGT	WNK2	ENSG00000165238.17	transcript	ENST00000427277.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr9	TogoVar
WNK2_chr9_93179139_93325569	93208749	G G	GTGTTTTG others(469): Show GTGTTTTGTGTGTGTTCATGTGTGCATGTTCTTGCATGTGTTCTGTGTGT TCATGTGTGTTCTGTGTATTCTTTGTGTGTGTTCGTTTGTCAGTGTGTTC TGTGTGTTATTCATGTGTCCATGTGTTCTGTGTATGTTCATGTGTGTGTG TTCTGTGTGTCTTGTGTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTTCT GTGTTTTTGTGTGTGTTCTTCGTGTGTGTGTTCTGTATGTTTTTTGTATG TGCGTGTTCTGTGTTCATGTGTTCTGTGTGTTCTTTGTGTGTGTTCTGTG TGCTCTTCCTGTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTTCGTG TGTGTGTTATTCATGTGTGTGTTCTGTGTGTTCTTTGTATGTGTTCTGTG TTTTGTGTGTGTTCTGTGTGTTCTTTGTGTGTGTGTTCTGTGTGTTCTTC GTGTGTGTGTTCTGTGTGTTGTCTGCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG01952.hp1 others(6): Show HG01081.hp1 HG01884.hp2 HG01952.hp1 HG02055.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03540.hp2 NA20300.hp2	a0001 a0008 a0019 a0001 a0008 a0019	a0001c0015 a0001c0035 a0001c0036 others(2): Show a0001c0015 a0001c0035 a0001c0036 a0008c0020 a0019c0060	a0001c0015t0001 a0001c0035t0001 a0001c0036t0001 others(2): Show a0001c0015t0001 a0001c0035t0001 a0001c0036t0001 a0008c0020t0001 a0019c0060t0001	a0001c0015t0001g0032 a0001c0015t0001g0033 a0001c0015t0001g0037 others(6): Show a0001c0015t0001g0032 a0001c0015t0001g0033 a0001c0015t0001g0037 a0001c0015t0001g0294 a0001c0035t0001g0215 a0001c0036t0001g0206 a0008c0020t0001g0287 a0008c0020t0001g0288 a0019c0060t0001g0253	9	145	0.0621	476	c.682 others(495): Show c.682-20944_682-20943insTTTGTGTGTGTTCATGTGTGCATGTT CTTGCATGTGTTCTGTGTGTTCATGTGTGTTCTGTGTATTCTTTGTGTGT GTTCGTTTGTCAGTGTGTTCTGTGTGTTATTCATGTGTCCATGTGTTCTG TGTATGTTCATGTGTGTGTGTTCTGTGTGTCTTGTGTGTGTGTGTGTTCT GTGTGTTCTTTGTGTGTTCTGTGTTTTTGTGTGTGTTCTTCGTGTGTGTG TTCTGTATGTTTTTTGTATGTGCGTGTTCTGTGTTCATGTGTTCTGTGTG TTCTTTGTGTGTGTTCTGTGTGCTCTTCCTGTGTGTGTTCTGTGTGTTCT TCGTGTGTGTGTTCTTCGTGTGTGTGTTATTCATGTGTGTGTTCTGTGTG TTCTTTGTATGTGTTCTGTGTTTTGTGTGTGTTCTGTGTGTTCTTTGTGT GTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTGTGTGTTGTCTGCATGT	WNK2	ENSG00000165238.17	transcript	ENST00000427277.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(469): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATCATATGTGATATATATCATATGTGATATATATGGTATATAT GATATATATCATATATATCATATGTGATATATATGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCACATGTGATATATGTCACATAT ATCACATGTGATATATATCATATATATCATATATATGATATATATCATAT ATATCATATATATGATATATATCATATATCATATATATGATATATATCAT ATATCATATATATGATATATATCACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	223	0.0045	476	c.-34 others(487): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATCATATGTGATATATATCATATGTGAT ATATATGGTATATATGATATATATCATATATATCATATGTGATATATATG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCACATGTG ATATATGTCACATATATCACATGTGATATATATCATATATATCATATATA TGATATATATCATATATATCATATATATGATATATATCATATATCATATA TATGATATATATCATATATCATATATATGATATATATCACAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar

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