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
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(466): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATATAACATATAATGATAT ATAATATATATCATATAACATATG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18966.hp1 NA18960.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0181 a0001c0002t0007g0173 a0001c0002t0001g0181 a0001c0002t0007g0173	2	55	0.0364	473	c.-11 others(494): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATATAACATATAATGATATATAATATATATCATATAACATATGATA	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(466): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATGATAT ATAATATATATCATATAACATATG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	54	0.0185	473	c.-11 others(494): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATGATATATAATATATATCATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SRXN1_chr20_641615_658200	642005	G G	GGGGGGGG others(466): Show GGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCG GGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGG GGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTG GGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGTGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	419	0.0024	473	c.67 others(484): Show c.6708_*6709insAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCACCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCT GGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CTCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCA ACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4609		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(466): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGTGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA19077.hp1 NA18984.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	81	0.0247	473	c.64 others(484): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCC CCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCC CGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAG GCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCTCCACCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAG GCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SYT2_chr1_202585596_202715454	202672792	A A	AGGGGGAG others(466): Show AGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGA GAGAAGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGAGGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGA GGGGGGGAGGGAGGGGGGAGAGAGAGGGGGGGGAGAGGGGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGCGGAGAGAGAGGGGGGCGGGCGGGGGG TGCGAGAGGGGGAGGCGGGCGGGGGGCGCGCCGGGGGCGGGGCCGGGACG GGTGGCGCGAGAGGGGCGTCGCGCGGCGGGGGCGTGCGGGGGGCCGGGCT CTGGGGCGGCGGGCTCGCGAGTCGGGGGAGGGAGGGCGGGGGCGTGAGTG GGGCGAGGGCGGTGGGCGCGCGGGGGGCGCGGAGGGTGCGGGGTGGGGGA GGCGGCGAGGGCGAGCGCTCGAGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0177	1	274	0.0036	473	c.-18 others(492): Show c.-18+37465_-18+37466insGCTCGAGCGCTCGCCCTCGCCGCCTC CCCCACCCCGCACCCTCCGCGCCCCCCGCGCGCCCACCGCCCTCGCCCCA CTCACGCCCCCGCCCTCCCTCCCCCGACTCGCGAGCCCGCCGCCCCAGAG CCCGGCCCCCCGCACGCCCCCGCCGCGCGACGCCCCTCTCGCGCCACCCG TCCCGGCCCCGCCCCCGGCGCGCCCCCCGCCCGCCTCCCCCTCTCGCACC CCCCGCCCGCCCCCCTCTCTCTCCGCCCTCCCTCCCCCTCTCTCTCCCCC CTCCCTCCCCCCTCTCCCCCCCCTCTCTCTCCCCCCTCCCTCCCCCCCTC TCCCCCCTCCCTCCCCCTCTCTCCCCCCCTCCCCCTCTCTCCCCCTCCCT CCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTC TCTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(466): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCT ACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCT ATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCC TATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATC CACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATC CACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCA CCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCT ACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCC ATCCATCCTATCCATCCACCCATC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG06807.hp2 HG01884.hp2 HG02976.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0010 a0001c0001t0002g0238 a0001c0001t0007g0050 a0001c0001t0002g0010 a0001c0001t0002g0238 a0001c0001t0007g0050	3	30	0.1000	473	c.113 others(492): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCA CCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCA CCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTA TCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCA TCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCA TCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTAT CCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACC CACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATC ATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89885103	G G	GCCCTCTC others(466): Show GCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTC CCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCT GACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCT CCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGC CTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCT CTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCT GCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACG CCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCC CTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTG ACGCCCTCTCCCTCTGCCTGATGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	241	0.0041	473	c.429 others(488): Show c.429+468_429+469insCCCTCTCCCTCTGCCTGACGCCCCTCTCCC TCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGA CGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCTCC CTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCT GACGCCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCTCT CCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGC CTGACGCCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGACGCC CCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCT CTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCCTCTGCCTGAC GCCCTCTCCCTCTGCCTGATGCCCCTCTCCCTCTGCCTGACGC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TEX29_chr13_111315642_111349248	111340261	A A	AATCATAA others(466): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCCTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCATCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	394	0.0025	473	c.239 others(488): Show c.239+382_239+383insATGTTTAGTGAGCACCTGTGCTTGTTGATG AAAATCATAACCCCTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCA TAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCG TGTTTAGTGAGCATCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAG TGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCAC CTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCT TGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGAT GAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATC ATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCC GTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCC	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111340304	A A	AATCATAA others(466): Show AATCATAACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCCTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCATCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA ACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	319	0.0031	473	c.239 others(488): Show c.239+382_239+383insATGTTTAGTGAGCACCTGTGCTTGTTGATG AAAATCATAACCCCTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCA TAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCG TGTTTAGTGAGCATCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAG TGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCAC CTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCT TGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGAT GAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATC ATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCC GTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCC	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMPRSS2_chr21_41459305_41513158	41474393	G G	GTGATGTG others(466): Show GTGATGTGCTAGTTGGGGGTTGAGGGGGGGGGTGGAGTTAGGAGTGGTTG TGGTAATTGGTTTATGGCGTATGGGTGAGGGGTGGGTGAGGTGGTGAGTG AGGGGGTGAGGGGTGAGTAAGGAGGTGAGGGGGTGAGTGAGGGGGTGGGT GAGGGGTGGGTGAGGGGATGAGGGAGTGATTCAGAGGGTGAAGGGGTGAG TGAGGGAGTGAAGGCATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGTG ACTGAGGGGTGAAGGGGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCAT GAGTGAGGGGGTGAATGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGGA TGAATGAGGGGGTAAGTAAGGGGTTGAGGGGGTGAGGGGGTGAGTGAGGA GGTGAAGGGTGAGTGAGGGCGTGAGGGGGTGAGGGAGTGAGGGATTAGTG AGGGGGTGAGGGGTTGAGTGAGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0224 a0001c0002t0009g0224	1	380	0.0026	473	c.728 others(488): Show c.728-898_728-897insTCCTCACTCAACCCCTCACCCCCTCACTAA TCCCTCACTCCCTCACCCCCTCACGCCCTCACTCACCCTTCACCTCCTCA CTCACCCCCTCACCCCCTCAACCCCTTACTTACCCCCTCATTCATCCCTT CACCCCTCACTCACCCCGTCTCTCACCCATTCACCCCCTCACTCATGCCT TCACCCCCTCACTCTCCTCCTCACTCCCCCCTTCACCCCTCAGTCACCCC CTCACTCACCCCTTCACCCCCTCAATCATGCCTTCACTCCCTCACTCACC CCTTCACCCTCTGAATCACTCCCTCATCCCCTCACCCACCCCTCACCCAC CCCCTCACTCACCCCCTCACCTCCTTACTCACCCCTCACCCCCTCACTCA CCACCTCACCCACCCCTCACCCATACGCCATAAACCAATTACCACAACCA CTCCTAACTCCACCCCCCCCCTCAACCCCCAACTAGCACATCA	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTCAGGG others(466): Show GGTCAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCGGGGTTA GGGAGGCCGGGGGTCAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCAGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCC GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGT TAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTCAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG ACCAAGGGTCAGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	166	0.0060	473	c.49 others(484): Show c.4905_*4906insACCCCGGCCTCCCTGACCCTTGGTCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTGACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCTGG CCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTA ACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCTGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTGACCCCCGGCCTCCCTAACCCCGGT CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTGAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TRPM7_chr15_50552158_50691797	50564248	A A	AAAAATAA others(466): Show AAAAATAAAATAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	121	0.0083	473	c.546 others(492): Show c.5468-2441_5468-2440insATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTATTTTATTTTATTTTATTTTATTTATTTTATTTT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870126	A A	ACACACAC others(466): Show ACACACACCACACACACCACACACACCACACACACCACACACACCACACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACAAACCACACACACCACACACACCACA CCCCACACACACCGCACCCCACACACACCACACACCCCCCACACACCACA CCCCATACACACCACACACCTCACACACACCACACCCCACACACCACACC CCACACACACCACACCCCACACACCCCACACACACCACACCCCATACACA CCACACACCCCACACACACCACACCCCACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG06807.hp2 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0100 a0001c0001t0002g0246 a0001c0001t0001g0100 a0001c0001t0002g0246	2	291	0.0069	473	c.35 others(492): Show c.35+21400_*35+21401insCACACACACCACACACACCACACACA CCACACACACCACACACACCACACCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACAAACCACACA CACCACACACACCACACCCCACACACACCGCACCCCACACACACCACACA CCCCCCACACACCACACCCCATACACACCACACACCTCACACACACCACA CCCCACACACCACACCCCACACACACCACACCCCACACACCCCACACACA CCACACCCCATACACACCACACACCCCACACACACCACACCCCACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCATACACACCACACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCCCACACACACCACACCCCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870633	C C	CCACACAC others(466): Show CCACACACACCACACCCCACACACACCACACCCCAAACACACCACACCCC ACACACACCACACACCCAACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCATACACACCACA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	91	0.0110	473	c.35 others(492): Show c.35+21901_*35+21902insACACACACCACACCCCACACACACCA CACCCCAAACACACCACACCCCACACACACCACACACCCAACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCATACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX2_chrX_8164944_8176267	8169109	C C	CCTCCCCA others(466): Show CCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCT CCCTCCCTCCCCACACACCTCCTCTCCCTCCCTCCCTCCCTCCCCACACA CCTCCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCC TCCCTCCCTCCCCACACACCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0006	1	87	0.0115	473	c.92 others(482): Show c.922_*923insAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGG GAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		834		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169438	C C	CCCTCCCT others(466): Show CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCCTCCCCTCACACCACCTCTTCCTCCCTCCCTCCCT CCCCTCACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCT TCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCT CCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCACCTCT TCCCCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCTCACAC ACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACTTCTTCCTCCCTCCC TCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCCACACACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0023 a0006c0007t0002g0023	1	109	0.0092	473	c.59 others(482): Show c.593_*594insAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAA GAAGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		505		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253208	T T	TCCCCCTC others(466): Show TCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCC TCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCC CTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTC CTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTTTCCCCCCTCC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0065 a0004c0004t0004g0065	1	228	0.0044	473	c.53- others(486): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR64_chr1_241647281_241807777	241675073	G G	GCCTCCCT others(466): Show GCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCT CCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTTCTTTCCTTCCTT TTCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCCTCCTCCCTCCCT CCTTCCCTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCC CTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTTCTTCCTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0047 a0017c0027t0001g0047	1	177	0.0056	473	c.483 others(488): Show c.483+337_483+338insCCTTCCCTCCTCCCTCCCTCCTTCCCTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTTCTTT CCTTCCTTTTCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCCTCCT CCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGC CTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCT	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(467): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATG AGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTG GGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGT GGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGA TGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAA TGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGGTGGG TGGGATGGATAAATGGGTGGGTGGAATGGATAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	90	0.0111	474	c.278 others(491): Show c.2787+965_2787+966insTTATCCATCCCACCCACTCATTTATCCA TCCCACCCACTCATTTATCCATTCCACCCACCCATTTATCCATCCCACCC ACCCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTT ATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCC CACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACC CATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATC CATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCAT TTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCATTTATCCA TCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(467): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATG AGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTG GGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGT GGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGA TGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAA TGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGCTAAATGGGTGGG TGGGATGGATAAATGGGTGGGTGGAATGGATAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0027 a0005c0012t0001g0027	1	90	0.0111	474	c.278 others(491): Show c.2787+965_2787+966insTTATCCATCCCACCCACTCATTTATCCA TCCCACCCACTCATTTATCCATTCCACCCACCCATTTATCCATCCCACCC ACCCATTTAGCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTT ATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCC CACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACC CATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATC CATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCAC CCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCAT TTATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCATTTATCCA TCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1289928	C C	CCGTGTCC others(467): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	263	0.0038	474	c.36 others(485): Show c.3635_*3636insACGGAGCAGAGACACGGGGGACGGAGCAGAGACT CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACTCGGGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGG ACGGAGCAGGGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACTCGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACTCGGGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2462		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(467): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0173 a0001c0015t0001g0173	1	228	0.0044	474	c.34 others(485): Show c.3435_*3436insACGGAGCAGGGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAG CAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1558668	A A	ATGCCCCA others(467): Show ATGCCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTGTGGGTGCTC AGCCCCCACGCACCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTG TGGGTGCTCAGCCCCTGCATGCTCCGTCTAAACTCGAATCCCACCTCTGC CCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAACTCGAATCC CACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAA CTCGAATCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCT CCATCTAAACTCGAATCCCACCTCTGCCCCCCCTCCATGGGTGCTCAGCC CCCGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCCTCCATGG GTGCTCAGCCCCCGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCC CCTCCGTGGGTGCTCAGCCCCCCCG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0039 a0004c0005t0002g0039	1	2	0.5000	474	c.100 others(495): Show c.100+178382_100+178383insCGGGGGGGCTGAGCACCCACGGAG GGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCA CCCATGGAGGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGG GGGCTGAGCACCCATGGAGGGGGGGCAGAGGTGGGATTCGAGTTTAGATG GAGCATGCGGGGGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGA GTTTAGATGGAGCATGCGGGGGCTGAGCACCCATGGAGGGGGGCAGAGGT GGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCACCCATGGAGGGG GGCAGAGGTGGGATTCGAGTTTAGACGGAGCATGCAGGGGCTGAGCACCC ACAGAAGGGGACAGAGGTGGGATGCAGATTTAGATGGGGTGCGTGGGGGC TGAGCACCCACAGAAGGGGACAGAGGTGGGATGCAGATTTAGATGGGGCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(467): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CACGTATACGTATACACACATATACACGTATACGTATACACACATATACA CGTATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTA CACACATATACACGTATATACGTATACGTGTACACACATATACACGTATA TACGTATACGTGTACACACATATATATACACGTATATATACGTATACGTG TACACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACACGT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19083.hp1 NA19007.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0006 a0001c0001t0028g0051 a0001c0001t0002g0006 a0001c0001t0028g0051	2	113	0.0177	474	c.48- others(491): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACACGTATACGTATACACACATATACACGTATACGTATACACAC ATATACACGTATACGTATACGTGTACACACATATACACGTATATACGTAT ACGTGTACACACATATACACGTATATACGTATACGTGTACACACATATAC ACGTATATACGTATACGTGTACACACATATATATACACGTATATATACGT ATACGTGTACACACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACAC GTATATACGTATACGTGTACACACACACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGAG others(467): Show TGAGGGAGGGGAGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGAGAGGGGGAGGGGA GGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGGG AGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGG GGAGGATGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGG AGGGGAAGGTGAGAGAAGGGGGAGGGGGAAGGCGAGGGGAAGGCGAGGGG AGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	137	0.0073	474	c.248 others(489): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCGCCTTCCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCT CCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCC CCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCT CCCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCC TCCCCCTCTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCTCCTC CCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCC TCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCC CTCCCACCCTTCCACTCCCCTCACCTCCTCCTCTCCCCTCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(467): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGG AGGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGA GGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGG AAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGA GGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGA GGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02129.hp1 HG02132.hp2 others(6): Show HG01884.hp1 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02615.hp1 HG03486.hp1 HG03704.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0114 others(6): Show a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0267 a0001c0001t0001g0314 a0001c0001t0001g0321 a0005c0005t0001g0027	9	145	0.0621	474	c.248 others(489): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCT CCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCC TCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCT CCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCACTCGTCGACTCCC CTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTC CCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCC TCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCC CTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(467): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGG GGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGA GTCGACGAGTGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGG AGGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGA GGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGG AAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGA GGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGA GGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0033 a0005c0005t0001g0033	1	137	0.0073	474	c.248 others(489): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCT CCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCC TCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCT CCCACCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCACTCGTCGACTCCCC TCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCC CCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCCTCCCCCTCCCCC TCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCC CTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
AP3D1_chr19_2095988_2156566	2128633	C C	CGCTCCGA others(467): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCC GCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGC TCCGACACTGCACCCCGTGGAGCCAGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGA GCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCC CCCGCCGCTCCGACACTGCACCCCGTGGAGCCAGCCCGCCCCCGCCGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCA CCCCGTGGAGCCGGCCCGCCCCACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	261	0.0038	474	c.806 others(489): Show c.806+456_806+457insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCG GCGGGGGCGGGCTGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGG GCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCAC GGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTG TCGGAGCGGCGGGGGCGGGCTGGCTCCACGGGGTGCAGTGTCGGAGCGGC GGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCC GGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGG GTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCG GAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGEF10_chr8_1818926_1963641	1833001	C C	CAGAGGCA others(467): Show CAGAGGCAGAAAGAGACAGAGACGGAGAGAGAGACAGAGGCAGAGAGAGA CAGACAGAGGCAGAGGCAGAGACAGAAATAGACAGAGGCAGAGAGAGACA CAGGCAGAGACAGAGAGAGACAGAGACAGAGACAGGCAGAGAGACAGAGG CAGAGACAGAGACAGGCAGAGACAGAGGCAGAGAGAGACAGAGACAGAGG CAGAGAGAGACAGAGGGAGGCAGAGACAGAGGCAGAGGCAGAGACAGAAG CAGAGGGAGGCAGAGGGAGACAGACAGAGGCAGAGACAGAAGCAGAGGGA GGCAGAGGGAGACAGACAGAGGCAGAGACAGAGGCAGAGAGAGACAGGCA GAGACAGAGGCAGAGGCAGAGACAGAGATAGAGGCAGAGAGAGATACAGG CAGAGACAGAGACAGAGAGACAGAGACAGGCAGAGAGATACAGAGAGACA GAGGCAGAGAGACAGACAGAGACAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0089 a0001c0004t0003g0089	1	227	0.0044	474	c.-48 others(491): Show c.-48+8890_-48+8891insAGGCAGAAAGAGACAGAGACGGAGAGAG AGACAGAGGCAGAGAGAGACAGACAGAGGCAGAGGCAGAGACAGAAATAG ACAGAGGCAGAGAGAGACACAGGCAGAGACAGAGAGAGACAGAGACAGAG ACAGGCAGAGAGACAGAGGCAGAGACAGAGACAGGCAGAGACAGAGGCAG AGAGAGACAGAGACAGAGGCAGAGAGAGACAGAGGGAGGCAGAGACAGAG GCAGAGGCAGAGACAGAAGCAGAGGGAGGCAGAGGGAGACAGACAGAGGC AGAGACAGAAGCAGAGGGAGGCAGAGGGAGACAGACAGAGGCAGAGACAG AGGCAGAGAGAGACAGGCAGAGACAGAGGCAGAGGCAGAGACAGAGATAG AGGCAGAGAGAGATACAGGCAGAGACAGAGACAGAGAGACAGAGACAGGC AGAGAGATACAGAGAGACAGAGGCAGAGAGACAGACAGAGACAGAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112766788	G G	GGATGTGG others(467): Show GGATGTGGGAGTGCCTGGGGCCACTGTGGGAAGGTGGGGAGGATGTGGGG GTGTTGGGGGCCCCTGTGGAAAGGTGGGGAGATGTGGGGGTGTTGGGGGC CACTGTGGGAAGGTGGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGA AGGTGGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGAAAGGTGGGGAG ATGTGGGGGTGTTGGGGGCCACTGTGGGAAGGTGGGGAGATGTGGGGGTG TTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCC CTGTGGGAAGGTGGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGAAAG GTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGAT GTGGGGGTGTTGGGGGCCCCTGTGGAAAGGTGGGGAGATGTGGGGGTGTT GGGGGCCACTGTGGGAAGGTGGGGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0216 a0001c0040t0001g0216	1	243	0.0041	474	c.40- others(491): Show c.40-18339_40-18338insAGTGCCTGGGGCCACTGTGGGAAGGTGG GGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGAAAGGTGGGGAGATGTGG GGGTGTTGGGGGCCACTGTGGGAAGGTGGGGAGGATGTGGGGGTGTTGGG GGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTG GAAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCACTGTGGGAAGGTGGGG AGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGG GCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGTGTTGGGGG CCCCTGTGGAAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGA AGGTGGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGAAAGGTGGGGAG ATGTGGGGGTGTTGGGGGCCACTGTGGGAAGGTGGGGAGATGTGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(467): Show ATATATAGTTTATATATATATAGTTTATATATATATACTATATATATAGT TTATATATACTATATATATAGTTTATATATATATACTATATATAGTTTAT ATATATATACTATATATAGTATATATATACTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATATATACTATAT ATATAGTATATATATATATAAACTATATATATAGTTTATATATATATATA CTATATATATAGTTTATATATATATATACTATATATATAGTTTATATATA TATATACTATATATATAGTTTATATATATATACTATATATATAGTTTATA TATATATACTATATATATAGTTTATATATATATACTATATATATTTTATA TATATATATACTATATATATAGTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0224 a0001c0005t0001g0224	1	164	0.0061	474	c.331 others(493): Show c.3314-1170_3314-1169insAAACTATATATATAGTATATATATAT ATAAAATATATATAGTATATATATATAAACTATATATATAGTATATATAT ATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATAT ATATATAAACTATATATATAGTATATATATATATAAACTATATATATAGT ATATATATATATAAACTATATATATAGTTTATATATATATATACTATATA TATAGTATATATATATATAAACTATATATATAGTATATATATATAAACTA TATATATAGTATATATATAAACTATATATATAGTATATATATATAAACTA TATATATAGTATATATATAGTATATATATACTATATATAGTATATATATA TAAACTATATATAGTATATATATATAAACTATATATATAGTATATATAAA CTATATATATAGTATATATATATAAACTATATATATATAAACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(467): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT TTATATATATATACTATATATAGTATATATATACTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATATATACT ATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATA TAAACTATATATATAGTTTATATATATATATACTATATATATAGTATATA TATATACTATATATATAGTTTATATATATATACTATATATATAGTTTATA TATATATACTATATATATAGTTTATATATATATACTATATATATTTTATA TATATATATACTATATATATAGTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	164	0.0061	474	c.331 others(493): Show c.3314-1170_3314-1169insAAACTATATATATAGTATATATATAT ATAAAATATATATAGTATATATATATAAACTATATATATAGTATATATAT ATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATAT ATATACTATATATATAGTATATATATATATAAACTATATATATAGTTTAT ATATATATAAACTATATATATAGTTTATATATATATAAACTATATATATA GTATATATATATATAAACTATATATATAGTATATATATATAAACTATATA TATAGTATATATATAAACTATATATATAGTATATATATATAAACTATATA TATAGTATATATATAGTATATATATACTATATATAGTATATATATATAAA CTATATATAGTATATATATATAAACTATATATATAGTATATATAAACTAT ATATATAGTATATATATATAAACTATATATATATAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79327515	G G	GTTAGCGT others(467): Show GTTAGCGTGTTCTCCGTGGTTAACGTGCCCTCCGTGGTTAACGTGCTCTC CGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGCGTGC CCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGC ATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGT TAGTGTGCTCTCTCCATGGTTAGCGTGTTCTCCGTGGTTAACGTGCCCTC CGTGGTTAGCGTGCCCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGT GTTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCTCTCCGTGGTTA GTGTGCTCTCTCCATGGTTAGCGTGTTCTCCGTGGTTAACGTGCCCTCCG TGGTTAGCGTGCCCTCCGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTC TCCGTGTTTAGCGTGCTCTCCGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0284 a0003c0007t0004g0284	1	289	0.0035	474	c.177 others(493): Show c.1774-1618_1774-1617insTTCTCCGTGGTTAACGTGCCCTCCGT GGTTAACGTGCTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCT CCGTGGTTAGCGTGCCCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTG CTCTCCGTGTTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAG CGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGTTCTCCGT GGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGTGTGCTCT CTCCATGGTTAGCGTGTTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGCG TGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGTTCTCCGTGG TTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGTGTGCCCTCC CTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGTTTAGCGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327745	T T	TCCGTGGT others(467): Show TCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGC GTGCTCGCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTGTGGT TAACGTGCTCTCCGTGGTTAGTGTGCTCTCCGTGGTTAGCGTGTTCTCCG TGGTTAGTGTGTTCTCCGTGGTTAGCGTGCTCTCCATGGTTAGCGTGCTC TCCATGGATAGTGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAACGT GCTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGTGTGCCCTCCCTGGTTA GCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTG GTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGTGCTC GCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGT GCTCTCTCCATGGTTAGCGTGCTCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0005 a0002c0032t0005	a0002c0032t0005g0189 a0002c0032t0005g0189	1	236	0.0042	474	c.177 others(493): Show c.1774-1377_1774-1376insCGTGGTTAGTGTGCTCTCTCCATGGT TAGCGTGCTCGCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTG TGGTTAACGTGCTCTCCGTGGTTAGTGTGCTCTCCGTGGTTAGCGTGTTC TCCGTGGTTAGTGTGTTCTCCGTGGTTAGCGTGCTCTCCATGGTTAGCGT GCTCTCCATGGATAGTGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTA ACGTGCTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGTGTGCCCTCCCTG GTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTC CGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAGCGT GCTCGCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTA GTGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAGCGTGCTCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	83002957	T T	TCTCCGCA others(467): Show TCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGC GTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGG ATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGC CCTCCCGCCCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCG CCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCG CGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCT GAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCC GCCCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCC GCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCCGCAGTCCGCGTGTG GGATTCCTGAGCCCGCCCTCCCGCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0243 a0001c0001t0022g0243	1	260	0.0038	474	c.459 others(491): Show c.459+2157_459+2158insGGCGGGAGGGCGGGCTCAGGAATCCCAC ACGCGGACTGCGGAGAGTGGGAGGGCGGGCTCAGGAATCCCACACGCGGA GGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGGACTGCGGAGGGCGGG AGGGCGGGCTCAGGAATCCCACACGCGGAGGGCGGGAGGGCGGGCTCAGG AATCCCACACGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGG ACTGCAGAGAGTGGGAGGGCGAGCTCAGGAATCCCACACGCGGAGGGCGG GAGGGCGGGCTCAGGAATCCCACACGCGGACTGCGGAGGGCGGGAGGGCG GGCTCAGGAATCCCACACGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCC ACACGCGGACTGCAGAGAGTGGGAGGGCGAGCTCAGGAATCCCACACGCG GAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGCGGACTGCGGAG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAIAP2L2_chr22_38079900_38115684	38110149	G G	GAGAGAGA others(467): Show GAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGGGATAGAGAGAGAGAGA GAGAGAGGGAGAGGGAGAGAGGGAGAGGGAGAGAGAGAGGGAGAGAGAGA GAGAGAGAGAGGGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGAGAGAGGGATAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGGGAGA GGGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGG GAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGGGAGAGAGAGA GAGAGAGAGAGGGGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAG AGAGAGAGAGACAGGGAGAGAGAGACAGAGAGAGAGAGAGGGAGGGAGAG AGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0013 a0004c0004t0001g0013	1	16	0.0625	474	c.51+ others(487): Show c.51+325_51+326insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCC TCCCTCTCTCTCTCTCTGTCTCTCTCTCCCTGTCTCTCTCTCTCTCTCCC TCTCCCTCTCTCTCTCTCTCTCTCTCTCTCCCCTCTCTCTCTCTCTCTCT CTCCCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCCCTCTCT CTCTCCCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCCCTCTCCCT CTCTCCCTCTCCCTCTCTCTCTCTCTCTCTATCCCTCTCTCTCTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCT CTCCCTCTCTCTCTCCCTCTCCCTCTCTCCCTCTCCCTCTCTCTCTCTCT CTCTCTATCCCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTCCCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	1/13			chr22	TogoVar
C10orf90_chr10_126419997_126675693	126672462	C C	CCAGGACT others(467): Show CCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCA GCTACCCCGAGACCAGGACTGGTCATCAGCTACCCGAGACCAGGACTGGT CATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGG ACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAG ACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTAC CCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATC AGCTACCCCGAGACCAGGACTGGTCATCAGGCTACCCCGAGACCAGGACT GGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACC AGGACTGGTCATCAGCACCCCGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	216	0.0046	474	c.-19 others(485): Show c.-1983_-1982insTCTCGGGGTGCTGATGACCAGTCCTGGTCTCGGG GTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGT CTCGGGGTAGCCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAG TCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGAT GACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTA GCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTC GGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCT GGTCTCGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGA TGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1770		chr10	TogoVar
C2CD4C_chr19_400445_414147	404540	T T	TGGGGGGG others(467): Show TGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTGAGGGG GGGACAGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGCCCTGA GGGGTGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACG GGTCCTGCCTTGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGG TGTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTC CTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTGAGG GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCC TGAGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGA CGGGGTCCTGCCCTGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0098 a0001c0001t0019g0098	1	227	0.0044	474	c.25 others(485): Show c.2555_*2556insTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCT CACACCCCTCAGGGCAGGACCCGTCCCCCCCACACCCCTCAGGGCAGGAC CCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCACACC CCTCAGGGCAGGACCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTC CCCCCCTCACACCCCTCAGGGCAGGACCCGTCCCCCCCACACCCCTCAGG GCAGGACCCCGTCCCCCCCTCACACCCCTCAAGGCAGGACCCGTCCCCCC CACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCACACCCCTCAGGGCAG GACCCGTCCCCCCCACACCCCTCAGGGCAGGACCCTGTCCCCCCCTCACA CCCCTCAGGGCAGGACCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCG TCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		904		chr19	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(467): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACAGATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACAGATCTGTATAC ATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	282	0.0035	474	c.366 others(491): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATCTGTATACACATATGTATACAGATCTGTATACACATATGTATA CAGATCTGTATACACATATGTATACAGATCTGTATACATATGTATACAGA TCTGTATACACATATGTATACAGATATGTATACATATGTATACAGATATG TATACAGATATGTATACACATATGTATACAGATATGTATACACATATGTA TACAGATATGTATACACATATGTATATACAGATATGTATACACATATGTA TATACAGATATGTATACACATATGTATACAGATATGTATACATATGTATA CAGATATGTATATACATATGTATACAGATATGTATATACATATGTATACA GATATGTATACATATGTATACAGATATGTATATACATATGTATACAGATA TGTATATACAGATATGTATACAGATATGTATATACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(467): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACAGATCTGTATAC ATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01496.hp1 HG01346.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0162 a0001c0001t0001g0092 a0001c0001t0001g0162	2	283	0.0071	474	c.366 others(491): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATCTGTATACACATATGTATACAGATCTGTATACACATATGTATA CAGATATGTATACACATATGTATACAGATCTGTATACATATGTATACAGA TCTGTATACACATATGTATACAGATATGTATACATATGTATACAGATATG TATACAGATATGTATACACATATGTATACAGATATGTATACACATATGTA TACAGATATGTATACACATATGTATATACAGATATGTATACACATATGTA TATACAGATATGTATACACATATGTATACAGATATGTATACATATGTATA CAGATATGTATATACATATGTATACAGATATGTATATACATATGTATACA GATATGTATACATATGTATACAGATATGTATATACATATGTATACAGATA TGTATATACAGATATGTATACAGATATGTATATACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(467): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATCTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCT GTATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTAT ACATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG03491.hp2 HG00140.hp1 HG01099.hp1 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0054 a0002c0002t0001g0140 a0002c0002t0001g0009 a0002c0002t0001g0054 a0002c0002t0001g0140	3	284	0.0106	474	c.366 others(491): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACACATATGTATACAGATCTGTATACACATATGTATA CAGATATGTATACACATATGTATACAGATCTGTATACATATGTATACAGA TCTGTATACACATATGTATACAGATATGTATACATATGTATACAGATATG TATACAGATATGTATACACATATGTATACAGATATGTATACACATATGTA TACAGATATGTATACACATATGTATATACAGATATGTATACACATATGTA TATACAGATATGTATACACATATGTATACAGATATGTATACATATGTATA CAGATATGTATATACATATGTATACAGATATGTATATACATATGTATACA GATATGTATACATATGTATACAGATATGTATATACATATGTATACAGATA TGTATATACAGATATGTATACAGATATGTATATACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(467): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGG GGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGGGGATCCTC ACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCC TCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGAT CCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGTG GATCCTCACGGGGAGGGGATCCTCATGGGGAGGGGGGATCCTCAGAGGGA GGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCA CAGGGAGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	5	0.2000	474	c.234 others(495): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAG GGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCTC CTCACAGGGAGGGGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGG ATCCTCACGGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAG GATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGA GGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGATCCTCATGGG GAGGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCT CACAGGGTGGGGGGATCCTCACAGGGAGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC178_chr18_32932406_33445721	33116804	A A	ATTAGGTC others(467): Show ATTAGGTCAGATTCACTCCGGATAATGTCCTCATCCTAAAAATCAACTGA TTTGGGACTTTAATTACATGTGCAAAATTCCTTCACAGCAACTCCTCAGC AAATGTTAATTGAATGACTGGAAAATGTGTGTGTGTGTATATATATATAT ATATATATACACATATGTCCTGGAATCAATCCGCAAAGCAGAATCAGTAG GATGCAGAGCTAGATAACAGGTGATGATGATGATAGATAGATAGATGCAT AGACAGACATAGATATAGACTATCTATCTATCTATCTAAAGTAATTAACT TTTGCAATTGTCAGGGAGGCTAAGTAAATTCAAAGTCTATCATCAGGAAG GATCACAGGAAGGCTAGAAACCGTGAGTATGGGCTAAAACTGTTGTCCAC AGATAGAAGTTAGAATGTCTTCTTTCTCTCAGTCCACTCCTGTGTTCTCA TAGGAGTTCTCCTACAACCTGGTTG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	29	0.0345	474	c.223 others(495): Show c.2239-23895_2239-23894insCAACCAGGTTGTAGGAGAACTCCT ATGAGAACACAGGAGTGGACTGAGAGAAAGAAGACATTCTAACTTCTATC TGTGGACAACAGTTTTAGCCCATACTCACGGTTTCTAGCCTTCCTGTGAT CCTTCCTGATGATAGACTTTGAATTTACTTAGCCTCCCTGACAATTGCAA AAGTTAATTACTTTAGATAGATAGATAGATAGTCTATATCTATGTCTGTC TATGCATCTATCTATCTATCATCATCATCACCTGTTATCTAGCTCTGCAT CCTACTGATTCTGCTTTGCGGATTGATTCCAGGACATATGTGTATATATA TATATATATATATACACACACACACATTTTCCAGTCATTCAATTAACATT TGCTGAGGAGTTGCTGTGAAGGAATTTTGCACATGTAATTAAAGTCCCAA ATCAGTTGATTTTTAGGATGAGGACATTATCCGGAGTGAATCTGACCTAA	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	20/22			chr18	TogoVar
CCDC183_chr9_136791338_136812741	136802808	G G	GGGGGCCC others(467): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCC AGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0026 a0001c0009t0002g0026	1	393	0.0025	474	c.666 others(487): Show c.666+88_666+89insCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTC CAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803080	G G	GGGGGCCC others(467): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	350	0.0029	474	c.666 others(489): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803235	C C	CCTCTTGG others(467): Show CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGCCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGG GCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCGGGCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	388	0.0026	474	c.666 others(489): Show c.666+495_666+496insCGGGGCCCCCCAGGGCGGGCTCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC TCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCGGGCTCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGCTCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(467): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGT GTATATATACATATATACGTATGTATGTGTATATATACATATATACGTAT GTATGTGTATATATACATATATACGTATGTATGTGTATATATACATATAT ACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATAC ATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTAT ATATACATATATACGTATGTATGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01978.hp1 HG02071.hp1 others(9): Show HG00408.hp1 HG01978.hp1 HG02071.hp1 HG03540.hp1 NA18612.hp2 NA18940.hp2 NA18946.hp2 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18979.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0023	a0001c0001t0001g0210 a0001c0001t0001g0239 a0001c0001t0001g0242 others(9): Show a0001c0001t0001g0210 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0005g0228 a0001c0001t0012g0301 a0001c0001t0012g0303 a0001c0001t0023g0003	12	134	0.0896	474	c.273 others(491): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATATACACA TACATACGTATATATGTATATATACACATACATACGTATATATGTATATA TACACATACATACGTATATATGTATATATACACATACATACGTATATATG TATATATACACATACATACGTATATATGTATATATACACATACATACGTA TATATGTATATATACACATACATACGTATATATGTATATATACACATACA TACGTATATATGTATATATACACATACATACGTATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91293537	G G	GGCCTACC others(467): Show GGCCTACCTTCCTGCCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTT CCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTT CCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	237	0.0042	474	c.411 others(491): Show c.4112+635_4112+636insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGG GGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTG GCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAG GTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGG GGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTG GCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAG GTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGG GGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTAGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD3G_chr11_118339344_118360161	118355861	A A	ATATACGC others(467): Show ATATACGCATATACACACGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT GTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACAT ATGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACAT ATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACAC ATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACAC ACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATAC ACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0016	1	273	0.0037	474	c.27 others(485): Show c.2761_*2762insTATACGCATATACACACGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTA TACGCATACACACATATGTGTGTATACGCATACACACATATGTGTGTGTA TACGCATACACACATATGTGTGTGTATACGCATACACACATATGTGTGTG TATACGCATACACACATATGTGTGTGTATACGCATACACACATATGTGTG TGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATGTG TGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTG	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		701		chr11	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(467): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCCTTCCCCCTC TTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCT TCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCG CCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCT TCTCCCCCCCCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCA CTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACT CCCCACTCCCTCCCTCTTCCCCCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	2	0.5000	474	c.75- others(491): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTC CTACTCCCCCCTTCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACT TTCTACTCTCCCTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCT CCCTACTCCCTCCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTC CCTACTCCCCACTCCCTCCTTCTCCCCCCCCTCCCCACTCCCTCCCTCTC CCCCTCTCCCTCTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCT CCCTCTCCCCCCTCCCCACTCCCCACTCCCTCCCTCTTCCCCCCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar

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