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
CTTNBP2NL_chr1_112391214_112466164	112449372	G G	GCCAGACA others(311): Show GCCAGACACGTTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp1 NA18944.hp1 others(1): Show HG02965.hp2 HG03453.hp1 NA18944.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0258 a0001c0002t0004g0047 a0001c0002t0004g0119 others(1): Show a0001c0002t0002g0258 a0001c0002t0004g0047 a0001c0002t0004g0119 a0001c0002t0004g0293	4	324	0.0124	318	c.330 others(333): Show c.330+215_330+216insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCAGACACGTTATTT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CXorf51A_chrX_146809106_146819744	146812146	C C	CATGTGTA others(311): Show CATGTGTATATATGTATATATATACACATATATACACACATATATGTGTA TATACGTATATACACATATATGTATATACACACACATATACACACATATA TATGTGTATATATGTATATACACATATATGTATATACACACACATATACA CACATATATATGTGTATATATGTATATACACATATATGTATATACACACA TATACACACATATATGTACACATATATGTGTATATACGTATATACACATA TATGTATATACACACACATATACACACATATATGTACACATATATATGTG TATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	318	c.20 others(329): Show c.2060_*2061insATGTGTATATACGTATATACACATATATATGTGT ACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATACGT ATATACACATATATGTGTACATATATGTGTGTATATGTGTGTATATACAT ATATGTGTATATACATATATACACATATATATGTGTGTATATGTGTGTGT ATATACATATATGTGTATATACATATATACACATATATATGTGTGTATAT GTGTGTGTATATACATATATGTGTATATACGTATATACACATATATGTGT GTATATATGTGTATATATATACATATATACACAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1959		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812368	C C	CATGTGTA others(311): Show CATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTGTA TATGTGTGTGTATATACATATATGTGTATATACGTATATACACATATATG TGTACATATATGTGTGTATATGTGTGTATATACATATATGTGTATATACA TATATACACATATATATGTGTGTATATGTGTGTGTATATACATATATGTG TATATACATATATACACATATATATGTGTGTATATGTGTGTGTATATACA TATATGTGTATATACGTATATACACATATATGTGTGTATATATGTGTATA TATATACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA19065.hp2 NA18944.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	264	0.0076	318	c.18 others(329): Show c.1838_*1839insATGTGTATATATGTATATATATACACATATATAC ACACATATATGTGTATATACGTATATACACATATATGTATATACACACAC ATATACACACATATATATGTGTATATATGTATATACACATATATGTATAT ACACACACATATACACACATATATATGTGTATATATGTATATACACATAT ATGTATATACACACATATACACACATATATGTACACATATATGTGTATAT ACGTATATACACATATATGTATATACACACACATATACACACATATATGT ACACATATATATGTGTATATACGTATATACACAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1737		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146816232	C C	CCTATATA others(311): Show CCTATATAATTTTATTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA19011.hp2 NA18951.hp1 NA19011.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0002	a0000c0002t0002g0004 a0000c0002t0002g0004	2	264	0.0076	318	c.-15 others(329): Show c.-1510_-1509insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AATAAAAAAAAAAAAAAAAAATAAAATTATATAG	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1489		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146816232	C C	CCTATATA others(311): Show CCTATATAATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG03834.hp1 HG02698.hp1 HG03834.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0002	a0000c0002t0002g0004 a0000c0002t0002g0004	2	264	0.0076	318	c.-15 others(329): Show c.-1510_-1509insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAATAAAATTATATAG	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1489		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146808267	T T	TAATAAAA others(311): Show TAATAAAATTATATAGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 NA18981.hp1 NA18992.hp2 others(2): Show HG01070.hp1 NA18981.hp1 NA18992.hp2 NA19054.hp1 NA19057.hp2	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0000c0003 a0001c0001	a0000c0003t0002 a0001c0001t0001 a0000c0003t0002 a0001c0001t0001	a0000c0003t0002g0000 a0001c0001t0001g0001 a0000c0003t0002g0000 a0001c0001t0001g0001	5	272	0.0184	318	c.-15 others(329): Show c.-1525_-1524insAATAAAATTATATAGTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1503		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146808267	T T	TAATAAAA others(311): Show TAATAAAATTATATAGTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AATAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	318	c.-15 others(329): Show c.-1525_-1524insAATAAAATTATATAGTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAATAAAAAAAAAAAAAAAA	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1503		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812146	C C	CATGTGTA others(311): Show CATGTGTATATATGTATATATATACACATATATACACACATATATGTGTA TATACGTATATACACATATATGTATATACACACACATATACACACATATA TATGTGTATATATGTATATACACATATATGTATATACACACACATATACA CACATATATATGTGTATATATGTATATACACATATATGTATATACACACA TATACACACATATATGTACACATATATGTGTATATACGTATATACACATA TATGTATATACACACACATATACACACATATATGTACACATATATATGTG TATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19007.hp1 NA19006.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	272	0.0074	318	c.18 others(329): Show c.1838_*1839insATGTGTATATATGTATATATATACACATATATAC ACACATATATGTGTATATACGTATATACACATATATGTATATACACACAC ATATACACACATATATATGTGTATATATGTATATACACATATATGTATAT ACACACACATATACACACATATATATGTGTATATATGTATATACACATAT ATGTATATACACACATATACACACATATATGTACACATATATGTGTATAT ACGTATATACACATATATGTATATACACACACATATACACACATATATGT ACACATATATATGTGTATATACGTATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1736		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812368	C C	CATGTGTA others(311): Show CATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTGTA TATGTGTGTGTATATACATATATGTGTATATACGTATATACACATATATG TGTACATATATGTGTGTATATGTGTGTATATACATATATGTGTATATACA TATATACACATATATATGTGTGTATATGTGTGTGTATATACATATATGTG TATATACATATATACACATATATATGTGTGTATATGTGTGTGTATATACA TATATGTGTATATACGTATATACACATATATGTGTGTATATATGTGTATA TATATACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA19065.hp2 NA18944.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	272	0.0074	318	c.20 others(329): Show c.2060_*2061insATGTGTATATACGTATATACACATATATATGTGT ACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATACGT ATATACACATATATGTGTACATATATGTGTGTATATGTGTGTATATACAT ATATGTGTATATACATATATACACATATATATGTGTGTATATGTGTGTGT ATATACATATATGTGTATATACATATATACACATATATATGTGTGTATAT GTGTGTGTATATACATATATGTGTATATACGTATATACACATATATGTGT GTATATATGTGTATATATATACATATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1958		chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(311): Show ATATATATGTGTATATATATATATATATATATATATATGTGTATATATAT ATATATATATATATATATGTGTGTATATATATATATATATATATGTGTGT ATATATATATATATATATATGTGTATATATATATATATATATATATGTGT ATATATATATATATATATGTGTGTGTATATATATATATATATATGTGTAT ATATATATATATATATATATATGTGTATATATATATATATATATATGTGT ATATATATATATATATATATATGTGTATATATATATATATATATGTGTAT ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0132 a0002c0002t0132	a0002c0002t0132g0272 a0002c0002t0132g0272	1	334	0.0030	318	c.290 others(333): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATATGTGTATATATATATATATATATATATATATGTGTGTATATATATA TATATATATATGTGTGTATATATATATATATATATATGTGTATATATATA TATATATATATATGTGTATATATATATATATATATGTGTGTGTATATATA TATATATATATGTGTATATATATATATATATATATATATGTGTATATATA TATATATATATATGTGTATATATATATATATATATATATGTGTATATATA TATATATATATGTGTATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(311): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	320	0.0031	318	c.546 others(335): Show c.546+3884_546+3885insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar
DAZAP1_chr19_1402586_1440684	1420023	A A	AGTCACGG others(311): Show AGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCCC GAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCAC CCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAAC CACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGA AACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCA TGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACAC TCATGAAACCACCCCGAAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	374	0.0027	318	c.304 others(335): Show c.304-1080_304-1079insCCCCGAACGTCACGGCGGCGAGCACTCA CCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCAC TCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAG CACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGC GAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGC GGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCAC GGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCA	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420069	T T	TCCTGAAC others(311): Show TCCTGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATG AAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACA CTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGC ACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACG CGCACACTCATGAAACCAC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	374	0.0027	318	c.304 others(335): Show c.304-1077_304-1076insTGAACGTCACGGCGGCGAGCACTCACCC CACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCA CCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCAC TCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAG CACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGC GAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGC GGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCC	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420072	C C	TGAACGTC others(311): Show TGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCA CCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATG AAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACA CTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGC ACACTCATGAAACCACCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01261.hp2 others(13): Show HG00423.hp2 HG00597.hp1 HG01261.hp2 HG02523.hp2 HG04115.hp2 NA18973.hp1 NA18988.hp1 NA18995.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 others(12): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0002g0011 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0080 a0001c0001t0003g0039 a0001c0001t0004g0057 a0001c0001t0004g0068 a0001c0001t0004g0073 a0001c0001t0005g0045 a0001c0001t0005g0069 a0001c0001t0015g0079	16	374	0.0428	318	c.304 others(335): Show c.304-1077_304-1076insTGAACGTCACGGCGGCGAGCACTCACCC CACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCA CCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCAC TCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAG CACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGC GAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGC GGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCC	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11			chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420122	T T	TCCCGAAC others(311): Show TCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCATCCCTACAGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATG AAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACA CTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGC ACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACG CGCACACTCATGAAACCAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0077 a0001c0001t0018g0077	1	374	0.0027	318	c.304 others(333): Show c.304-974_304-973insTCCCTACAGTCACGGCGGCGAGCACTCACC CCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTC ACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCA CTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGA GCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGG CGAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGG CGGCGAGCACTCACCCCACGCGCACACTCATGAAACCA	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420285	G G	GAACGTCA others(311): Show GAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCAC CCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAAC CACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGA AACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCA TGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACAC TCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCA CACTCATGAAACCACCCCA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	374	0.0027	318	c.304 others(333): Show c.304-762_304-761insCCCCGAACGTCACGGCGGCGAGCACTCACC CCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTC ACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCA CTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGA GCACTCACCCCACGCGCACACTCATGAAACCACCCCAAACGTCACGGCGG CGAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGG CGGCGAGCACTCACCCCACGCGCACACTCATGAAACCA	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420334	C C	CCCCGAAC others(311): Show CCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATG AAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACA CTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGC ACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACG CGCACACTCATGAAACCAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0117 a0001c0002t0015g0117	1	374	0.0027	318	c.304 others(333): Show c.304-762_304-761insCCCCGAACGTCACGGCGGCGAGCACTCACC CCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTC ACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCA CTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGA GCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGG CGAGCACTCACCCCACGCGCACACTCATGAAACCATCCCGAACGTCACGG CGGCGAGCACTCACCCCACGCGCACACTCATGAAACCA	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(311): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(40): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02071.hp1 HG02132.hp2 HG02523.hp1 HG03491.hp1 HG04184.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp2 NA18950.hp1 NA18954.hp2 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18975.hp1 NA18982.hp2 NA18989.hp1 NA18993.hp2 NA18999.hp1 NA19003.hp2 NA19005.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19068.hp1 NA19082.hp1 NA19088.hp1 NA19089.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0012 a0001c0003 a0004c0012	a0001c0003t0003 a0001c0003t0004 a0004c0012t0003 a0001c0003t0003 a0001c0003t0004 a0004c0012t0003	a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0315 others(37): Show a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0315 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0003g0318 a0001c0003t0003g0319 a0001c0003t0003g0321 a0001c0003t0003g0322 a0001c0003t0003g0323 a0001c0003t0003g0324 a0001c0003t0003g0326 a0001c0003t0003g0327 a0001c0003t0003g0328 a0001c0003t0003g0329 a0001c0003t0003g0330 a0001c0003t0003g0331 a0001c0003t0003g0332 a0001c0003t0003g0333 a0001c0003t0003g0335 a0001c0003t0003g0336 a0001c0003t0003g0337 a0001c0003t0003g0339 a0001c0003t0003g0340 a0001c0003t0003g0341 a0001c0003t0004g0041 a0001c0003t0004g0300 a0001c0003t0004g0301 a0001c0003t0004g0302 a0001c0003t0004g0303 a0001c0003t0004g0304 a0001c0003t0004g0305 a0001c0003t0004g0306 a0001c0003t0004g0307 a0001c0003t0004g0309 a0001c0003t0004g0311 a0001c0003t0004g0312 a0001c0003t0004g0314 a0001c0003t0004g0334 a0004c0012t0003g0342	43	416	0.1034	318	c.500 others(335): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DCC_chr18_52335197_53540899	52405375	T T	TCTCATTG others(311): Show TCTCATTGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0050 a0001c0002t0005g0050	1	114	0.0088	318	c.91+ others(335): Show c.91+64511_91+64512insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCTCATTGTGGTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	52925884	T T	TAAAGAGA others(311): Show TAAAGAGATTTAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0078 a0002c0001t0005g0078	1	114	0.0088	318	c.985 others(333): Show c.985+517_985+518insGAGATTTAAGGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDR2_chr1_162627464_162792405	162791518	G G	GCATTTGG others(311): Show GCATTTGGCATTTTTTTTTTTTTTTTTTTTATTTTGGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGT GAGCCACCGCGCCCGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0051 a0001c0002t0016g0051	1	302	0.0033	318	c.11 others(331): Show c.11272_*11273insCATTTGGCATTTTTTTTTTTTTTTTTTTTATT TTGGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCGGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding		4114		chr1	TogoVar
DDR2_chr1_162627464_162792405	162791518	G G	GCATTTGG others(311): Show GCATTTGGCATTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGT GAGCCACCGCGCCCGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00558.hp1 others(83): Show HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02300.hp2 HG02486.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18948.hp2 NA18951.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19030.hp1 NA19060.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 others(16): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 a0001c0002t0010 a0001c0002t0016 a0001c0002t0017 a0001c0002t0019 a0001c0002t0025 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0032 a0001c0002t0033 a0001c0002t0051 a0001c0003t0001 a0001c0005t0011 a0001c0006t0018	a0001c0001t0001g0216 a0001c0002t0001g0032 a0001c0002t0001g0040 others(83): Show a0001c0001t0001g0216 a0001c0002t0001g0032 a0001c0002t0001g0040 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0170 a0001c0002t0001g0181 a0001c0002t0001g0185 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0220 a0001c0002t0001g0223 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0264 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0288 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0293 a0001c0002t0009g0255 a0001c0002t0009g0256 a0001c0002t0009g0261 a0001c0002t0009g0262 a0001c0002t0010g0184 a0001c0002t0010g0188 a0001c0002t0010g0192 a0001c0002t0016g0061 a0001c0002t0017g0104 a0001c0002t0019g0241 a0001c0002t0019g0243 a0001c0002t0025g0145 a0001c0002t0027g0217 a0001c0002t0028g0222 a0001c0002t0029g0270 a0001c0002t0030g0237 a0001c0002t0031g0275 a0001c0002t0032g0074 a0001c0002t0033g0221 a0001c0002t0051g0090 a0001c0003t0001g0210 a0001c0003t0001g0224 a0001c0005t0011g0078 a0001c0006t0018g0202	86	302	0.2848	318	c.11 others(331): Show c.11272_*11273insCATTTGGCATTTTTTTTTTTTTTTTTTTTTTT TTGGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCGGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding		4114		chr1	TogoVar
DECR2_chr16_396885_417482	397740	G G	GGGGGTGT others(311): Show GGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGGTGAGGGAGTCGGGG GGGTGGGGGTGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGG GGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	367	0.0027	318	c.-42 others(329): Show c.-4224_-4223insGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGG TGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGG GTGAGGGAGTCGGGGGGGTGGGGGTGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGGTGGGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4144		chr16	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(311): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATACATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATACATATATTATATGCATATAATATATACATATATTAT ATGCATATAATATATGCATATATTATATGCATATAATATATGCATATATT ATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	280	0.0036	318	c.126 others(335): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGC ATATATTATATGCATATAATATATGCATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATGTATATATTATATGCATATAATAT ATGTATATATTATATGCATATAATATATGTATATATTATATGCATATAAT ATATGTATATATTATATGTATATAATATATATGTATATCATATAATATAT AATATATAATTATATATTATATATCATAATATGTAATATATAATTATATA TTACATATATATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(311): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATACATATATTATATGCATATAATATATACATATATTAT ATGCATATAATATATACATATATTATATGCATATAATATATACATATATT ATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02886.hp2 others(5): Show HG02109.hp1 HG02630.hp2 HG02886.hp2 HG02895.hp2 HG02970.hp2 HG03471.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019	a0001c0001t0005g0011 a0001c0001t0007g0018 a0001c0001t0007g0261 others(5): Show a0001c0001t0005g0011 a0001c0001t0007g0018 a0001c0001t0007g0261 a0001c0001t0007g0266 a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0019g0156	8	280	0.0286	318	c.126 others(335): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATGTATATATTATATGCATATAATAT ATGTATATATTATATGCATATAATATATGTATATATTATATGCATATAAT ATATGTATATATTATATGCATATAATATATATGTATATCATATAATATAT AATATATAATTATATATTATATATCATAATATGTAATATATAATTATATA TTACATATATATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(311): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATACATATATTATATGCATATAATATATACATATATTAT ATGCATATAATATATACATATATTATATGCATATAATATATGTATATATT ATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp1 HG02897.hp2 others(3): Show HG02145.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0013 a0001c0001t0020 a0001c0007t0005 a0001c0001t0013 a0001c0001t0020 a0001c0007t0005	a0001c0001t0013g0256 a0001c0001t0013g0257 a0001c0001t0013g0268 others(3): Show a0001c0001t0013g0256 a0001c0001t0013g0257 a0001c0001t0013g0268 a0001c0001t0020g0155 a0001c0001t0020g0255 a0001c0007t0005g0154	6	280	0.0214	318	c.126 others(335): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATAC ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATGTATATATTATATGCATATAATAT ATGTATATATTATATGCATATAATATATGTATATATTATATGCATATAAT ATATGTATATATTATATGCATATAATATATATGTATATCATATAATATAT AATATATAATTATATATTATATATCATAATATGTAATATATAATTATATA TTACATATATATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND2A_chr7_140513420_140645813	140637146	G G	GGCCAATT others(311): Show GGCCAATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01255.hp2 HG01261.hp2 others(3): Show HG00733.hp1 HG01255.hp2 HG01261.hp2 HG03139.hp1 HG03654.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0003c0013	a0001c0001t0001 a0001c0003t0002 a0003c0004t0008 others(1): Show a0001c0001t0001 a0001c0003t0002 a0003c0004t0008 a0003c0013t0002	a0001c0001t0001g0065 a0001c0003t0002g0066 a0001c0003t0002g0067 others(3): Show a0001c0001t0001g0065 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0222 a0003c0004t0008g0221 a0003c0013t0002g0223	6	254	0.0236	318	c.-24 others(337): Show c.-248+3357_-248+3358insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAATTGGC	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	1/19			chr7	TogoVar
DENND2A_chr7_140513420_140645813	140637151	A A	ATTTCTTT others(311): Show ATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGCCAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp1 HG01358.hp1 others(5): Show HG01123.hp2 HG01346.hp1 HG01358.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0007t0003	a0001c0001t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 others(5): Show a0001c0001t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0007t0001g0206 a0001c0007t0003g0205 a0001c0007t0003g0207 a0001c0007t0003g0208 a0001c0007t0003g0209	8	254	0.0315	318	c.-24 others(337): Show c.-248+3352_-248+3353insCTGGCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAA	DENND2A	ENSG00000146966.13	transcript	ENST00000496613.6	protein_coding	1/19			chr7	TogoVar
DENND3_chr8_141123589_141200804	141181769	T T	TTGTGTAT others(311): Show TTGTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp1 HG02615.hp1 HG02922.hp1	a0002 a0002	a0002c0022 a0002c0025 a0002c0022 a0002c0025	a0002c0022t0001 a0002c0025t0001 a0002c0022t0001 a0002c0025t0001	a0002c0022t0001g0302 a0002c0025t0001g0361 a0002c0022t0001g0302 a0002c0025t0001g0361	2	390	0.0051	318	c.294 others(335): Show c.2944+927_2944+928insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTGTGTATTTTTT	DENND3	ENSG00000105339.11	transcript	ENST00000519811.6	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
DGKD_chr2_233349494_233477098	233396927	T T	TGGGGGGG others(311): Show TGGGGGGGGCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGG GGGCGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGG CCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGA GTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAG AGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGAC ACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAG AGGGGACCAGGGTGGCTGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0091 a0001c0004t0013g0091	1	336	0.0030	318	c.348 others(335): Show c.348+6453_348+6454insAGAGCGAGAGGACTCCAGAGGGGACCAG GGTGGCTGGGGGGGGCGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGT GGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTG GCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGA GGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTG AGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2B_chr12_50499985_50753657	50593784	C C	CCTCCCCT others(311): Show CCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCTCTTCTCCCCTCTCCTCCCCTCCCCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19043.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0192 a0001c0006t0009g0193 a0001c0006t0009g0192 a0001c0006t0009g0193	2	284	0.0070	318	c.101 others(337): Show c.101-32191_101-32190insTCCCCTCCCCTCTCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTTCTCCCCTCTCCTCCCCT CCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLC1_chr8_13078361_13519851	13099051	A A	ACCATTTT others(311): Show ACCATTTTCACCATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00099.hp2 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0130 a0002c0002t0002g0103 a0002c0002t0002g0130	2	212	0.0094	318	c.299 others(335): Show c.2990+295_2990+296insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAATGGTGAAAATGG	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	9/17			chr8	TogoVar
DMD_chrX_31114222_33216549	31982955	T T	TTCAGAGC others(311): Show TTCAGAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTAACTACA AGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAACCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCATCACACCCAGCACATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCACCTGGCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01433.hp1 HG02698.hp1 others(5): Show HG00673.hp1 HG01433.hp1 HG02698.hp1 HG03492.hp1 NA18747.hp1 NA18943.hp1 NA18984.hp1 NA19062.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0013 a0014 a0024 a0031	a0001c0001 a0003c0014 a0004c0004 others(4): Show a0001c0001 a0003c0014 a0004c0004 a0013c0015 a0014c0017 a0024c0038 a0031c0047	a0001c0001t0001 a0003c0014t0001 a0004c0004t0001 others(5): Show a0001c0001t0001 a0003c0014t0001 a0004c0004t0001 a0004c0004t0002 a0013c0015t0001 a0014c0017t0001 a0024c0038t0001 a0031c0047t0005	a0001c0001t0001g0090 a0003c0014t0001g0059 a0004c0004t0001g0041 others(5): Show a0001c0001t0001g0090 a0003c0014t0001g0059 a0004c0004t0001g0041 a0004c0004t0002g0086 a0013c0015t0001g0030 a0014c0017t0001g0114 a0024c0038t0001g0053 a0031c0047t0005g0081	8	126	0.0635	318	c.643 others(339): Show c.6439-14442_6439-14441insGGCCAGGTGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATGTGCTGGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGTTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGTAG TTAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTCTGA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMXL2_chr15_51442791_51627771	51576515	T T	TAAAAGCT others(311): Show TAAAAGCTCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18984.hp1 HG02155.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0068 a0001c0001t0001g0069	2	346	0.0058	318	c.88- others(331): Show c.88-335_88-334insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGGAGCTTTT	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	1/43			chr15	TogoVar
DNAH10_chr12_123757301_123940714	123872645	T T	TAAAAAAA others(311): Show TAAAAAAAATACCCTAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03041.hp2 NA18944.hp1 HG02027.hp2 HG03041.hp2 NA18944.hp1	a0006 a0045 a0006 a0045	a0006c0026 a0006c0027 a0045c0049 a0006c0026 a0006c0027 a0045c0049	a0006c0026t0002 a0006c0027t0001 a0045c0049t0001 a0006c0026t0002 a0006c0027t0001 a0045c0049t0001	a0006c0026t0002g0081 a0006c0027t0001g0145 a0045c0049t0001g0078 a0006c0026t0002g0081 a0006c0027t0001g0145 a0045c0049t0001g0078	3	170	0.0177	318	c.778 others(335): Show c.7786-906_7786-905insATACCCTAGAGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	45/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21584948	T T	TAAAAAAA others(311): Show TAAAAAAAATGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0177 a0177	a0177c0246 a0177c0246	a0177c0246t0001 a0177c0246t0001	a0177c0246t0001g0231 a0177c0246t0001g0231	1	298	0.0034	318	c.171 others(337): Show c.1710+2940_1710+2941insTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCC GGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTAG	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	9/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAATATA others(311): Show AAAATATATATATATATATATATACACATACATATACATATATACACATA CATATACATATATACACATACATATACATATATACACATACATATATATA TACATATATATATACATATATATATACGTATATATATATACGTGTATATA TATATACATATATATATATACGTGTGTATATATATACACATATATATATA CACGTATATATATACACATATATATATATACACATATATATATATACACA CATATATATATACACATATATATATATACACATATATATATATATACACA CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0056 a0056	a0056c0077 a0056c0077	a0056c0077t0001 a0056c0077t0001	a0056c0077t0001g0263 a0056c0077t0001g0263	1	266	0.0038	318	c.730 others(337): Show c.7305+1447_7305+1448insATATATATATATATATATGTGTGTAT ATATATATATATGTGTATATATATATATGTGTATATATATATGTGTGTAT ATATATATATGTGTATATATATATATGTGTATATATATACGTGTATATAT ATATGTGTATATATATACACACGTATATATATATATGTATATATATATAC ACGTATATATATATACGTATATATATATGTATATATATATGTATATATAT ATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGT ATATATGTATATGTATGTGTATATATATATATATATATATTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AATATATA others(311): Show AATATATATATATATATATATATACACATACATATACATATATACACATA CATATACATATATACACATACATATACATATATACACATACATATATATA TACATATATATATACATATATATATACGTATATATATATACGTGTATATA TATATACATATATATATATACGTGTGTATATATATACACATATATATATA CACGTATATATATACACATATATATATATACACATATATATATATACACA CATATATATATATACACATATATATATATACACATATATATATATATACA CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0155 a0002c0002t0001g0155	1	266	0.0038	318	c.730 others(337): Show c.7305+1447_7305+1448insATATATATATATATATATGTGTATAT ATATATATATGTGTATATATATATATGTGTATATATATATATGTGTGTAT ATATATATATGTGTATATATATATATGTGTATATATATACGTGTATATAT ATATGTGTATATATATACACACGTATATATATATATGTATATATATATAC ACGTATATATATATACGTATATATATATGTATATATATATGTATATATAT ATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGT ATATATGTATATGTATGTGTATATATATATATATATATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH9_chr17_11593470_11974748	11843988	T T	TATGAATC others(311): Show TATGAATCTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19030.hp2 HG01243.hp2 NA19030.hp2	a0025 a0070 a0025 a0070	a0025c0032 a0070c0137 a0025c0032 a0070c0137	a0025c0032t0001 a0070c0137t0001 a0025c0032t0001 a0070c0137t0001	a0025c0032t0001g0100 a0070c0137t0001g0136 a0025c0032t0001g0100 a0070c0137t0001g0136	2	178	0.0112	318	c.950 others(337): Show c.9507+9106_9507+9107insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCATGAATCTTGTTTTTT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAJC17_chr15_40760161_40812473	40808120	G G	GCAAAGCT others(311): Show GCAAAGCTACTCTTTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT TTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACTG CAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGTG TAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01169.hp1 HG01496.hp1 others(17): Show HG01074.hp2 HG01169.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG02155.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02738.hp1 HG02976.hp1 HG03486.hp2 NA18967.hp1 NA18979.hp2 NA18991.hp2 NA19004.hp2 NA19030.hp1 NA19085.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0032 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0004g0053 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0103 a0001c0001t0022g0057 a0001c0001t0024g0102 a0001c0001t0028g0031 a0003c0003t0001g0082	20	358	0.0559	318	c.-67 others(327): Show c.-675_-674insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGCA GGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATTGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAATTAAAGAGTAGCTTTG	DNAJC17	ENSG00000104129.10	transcript	ENST00000220496.9	protein_coding		648		chr15	TogoVar
DNAJC17_chr15_40760161_40812473	40808120	G G	GCAAAGCT others(311): Show GCAAAGCTACTCTTTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT TTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACTG CAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGTG TAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0104 a0001c0001t0021g0104	1	358	0.0028	318	c.-67 others(327): Show c.-675_-674insGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGCA GGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATTGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAATTAAAGAGTAGCTTTG	DNAJC17	ENSG00000104129.10	transcript	ENST00000220496.9	protein_coding		648		chr15	TogoVar
DNAJC6_chr1_65304543_65420871	65380636	C C	CAAGAATT others(311): Show CAAGAATTTGCTAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTAGTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0114 a0001c0003t0003g0114	1	326	0.0031	318	c.666 others(335): Show c.666+1123_666+1124insAAGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTAGTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTTGCT	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK1_chr10_126900428_127457516	126947971	T T	TTGGTGGT others(311): Show TTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTAGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTGG TTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0045 a0001c0005t0001g0045	1	136	0.0074	318	c.47- others(335): Show c.47-22655_47-22654insGTGGTGGTAGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	51015961	A A	ATGATATA others(311): Show ATGATATATATCATATATATCATATATATGATATATATCATATATATCAT ATATATCATATATATCATATATATCATATATATCATATATATGATATATA TCATATATATCATATATATGATATATATCATATATATCATATATATCATA TATATCATATATATGATATATATCATATATATCATATATATCATATATAT CATATATATATCATATATATCATATATATGATATATATATCATATATATC ATATATATCATATATATGATATATATATCATATATATCATATATATCATA TATATGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	212	0.0047	318	c.316 others(337): Show c.316-48487_316-48486insTGATATATATCATATATATCATATAT ATGATATATATCATATATATCATATATATCATATATATCATATATATCAT ATATATCATATATATGATATATATCATATATATCATATATATGATATATA TCATATATATCATATATATCATATATATCATATATATGATATATATCATA TATATCATATATATCATATATATCATATATATATCATATATATCATATAT ATGATATATATATCATATATATCATATATATCATATATATGATATATATA TCATATATATCATATATATCATATATATGATATATATATCAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK8_chr9_209865_470255	399997	T T	TCCACCAC others(311): Show TCCACCACCTCCACCATCACCATCACCACCACCACCACCTCCACCACCAG CACTTCCACCATCACCATCACCACCACCTCCACCATCACCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATC ACCACCACCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0135 a0003c0135	a0003c0135t0001 a0003c0135t0001	a0003c0135t0001g0173 a0003c0135t0001g0173	1	256	0.0039	318	c.323 others(335): Show c.3234+759_3234+760insTCACCACCACCACCACCTCCACCACCAG CACTTCCACCATCACCATCACCACCACCTCCACCATCACCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCATCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634737	C C	CCCTTCCT others(311): Show CCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCTTCTCCTTTCCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTT CCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCT CCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	250	0.0040	318	c.105 others(335): Show c.105-1169_105-1168insTTCCTTCCCTTTCCCCTTCCTTCTCCTT TCCCTTCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTT CCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPH7_chr9_137549444_137583925	137567936	T T	TCTGTCTG others(311): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	340	0.0029	318	c.641 others(335): Show c.641-2783_641-2782insTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAGAGTCACCCAGGGGAGCTTCCTCAC AGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGC TTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCC AGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGAC AGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTT CCTCACAGACAGTCACCCCGGGGAGCTTCCTCACAGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP10_chr2_114437641_115850780	115623899	C C	CAAGAATT others(311): Show CAAGAATTGTCAGATGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19240.hp2 HG02818.hp1 NA19240.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0003 a0004c0005t0012 a0003c0003t0003 a0004c0005t0012	a0003c0003t0003g0049 a0004c0005t0012g0031 a0003c0003t0003g0049 a0004c0005t0012g0031	2	56	0.0357	318	c.442 others(337): Show c.442-65771_442-65770insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAGAATTGTCAGATGAA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DROSHA_chr5_31395494_31537093	31509247	T T	TAAAAAAA others(311): Show TAAAAAAAAAATATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0045 a0001c0022t0003g0045	1	322	0.0031	318	c.143 others(335): Show c.1433-473_1433-472insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTATATTTTTTTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	9/35			chr5	TogoVar
DST_chr6_56452996_56959830	56837910	T T	TAAAGGAC others(311): Show TAAAGGACAAGCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0001 a0033c0042t0001	a0033c0042t0001g0053 a0033c0042t0001g0053	1	84	0.0119	318	c.625 others(337): Show c.625+13486_625+13487insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTCTGCTTGTCCTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	4/103			chr6	TogoVar

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