Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
COL4A2_chr13_110302284_110518209	110385858	T T	TTACAGTG others(305): Show TTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTAC AGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGCTGCAGTG TGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTG TGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01943.hp2 NA18953.hp2 HG01516.hp2 HG01943.hp2 NA18953.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0015 a0002c0007 a0003c0122 a0001c0015 a0002c0007 a0003c0122	a0001c0015t0002 a0002c0007t0005 a0003c0122t0006 a0001c0015t0002 a0002c0007t0005 a0003c0122t0006	a0001c0015t0002g0343 a0002c0007t0005g0157 a0003c0122t0006g0068 a0001c0015t0002g0343 a0002c0007t0005g0157 a0003c0122t0006g0068	3	372	0.0081	312	c.180 others(331): Show c.180+28307_180+28308insACAGTGTGTGGATAGGCCGTGGTTAC AGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTG TGGATGGGCCGTGGCTGCAGTGTGTGGATGGGCCGTGGTTACAGTGTGTG GATGGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGA TGGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A2_chr21_46093112_46134801	46134683	G G	GAGGGTCA others(305): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGTTTA GGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGG GTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAGGGT GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCA GGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGG TTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGGTGAGGGT CAGGGTGAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0010 a0010	a0010c0040 a0010c0040	a0010c0040t0006 a0010c0040t0006	a0010c0040t0006g0229 a0010c0040t0006g0229	1	372	0.0027	312	c.51 others(323): Show c.5192_*5193insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGT TTAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT AGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAG GTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TGAGGGTGAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGTTT AGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAG GGTCAGGGTGAGGGTCAGGGTGAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4883		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134683	G G	GAGGGTCA others(305): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGTTTA GGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGG GTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAGGGT GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCA GGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGG TTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGGTGAGGGT CAGGGTGAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0013 a0013	a0013c0055 a0013c0055	a0013c0055t0001 a0013c0055t0001	a0013c0055t0001g0225 a0013c0055t0001g0225	1	364	0.0028	312	c.21 others(323): Show c.2131_*2132insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGT TTAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT AGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAG GTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TGAGGGTGAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGTTT AGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGGTGAG GGTCAGGGTGAGGGTCAGGGTGAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1836		chr21	TogoVar
COL9A3_chr20_62812050_62846159	62825106	A A	AGGGAGGG others(305): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0318 a0001c0012t0002g0318	1	412	0.0024	312	c.630 others(327): Show c.630+131_630+132insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGG GCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825106	A A	AGGGAGGG others(305): Show AGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGG GCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0002 a0001c0073t0002	a0001c0073t0002g0157 a0001c0073t0002g0157	1	412	0.0024	312	c.630 others(327): Show c.630+107_630+108insTGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGG GGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCT GGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(305): Show AGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19056.hp1 HG00609.hp2 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0001 a0001c0012t0002 a0001c0003t0001 a0001c0012t0002	a0001c0003t0001g0324 a0001c0012t0002g0322 a0001c0003t0001g0324 a0001c0012t0002g0322	2	412	0.0049	312	c.630 others(327): Show c.630+131_630+132insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(305): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19080.hp1 NA19067.hp2 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0083 a0001c0003 a0001c0083	a0001c0003t0001 a0001c0083t0001 a0001c0003t0001 a0001c0083t0001	a0001c0003t0001g0277 a0001c0083t0001g0319 a0001c0003t0001g0277 a0001c0083t0001g0319	2	412	0.0049	312	c.630 others(327): Show c.630+155_630+156insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGG GCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(305): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0336 a0001c0012t0002g0336	1	412	0.0024	312	c.630 others(327): Show c.630+155_630+156insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGG GCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(305): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0303 a0001c0008t0002g0303	1	412	0.0024	312	c.630 others(327): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGG GCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(305): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0284 a0001c0003t0001g0284	1	412	0.0024	312	c.630 others(327): Show c.630+179_630+180insGGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGG GCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(305): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02040.hp1 HG00621.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0287 a0001c0003t0001g0316 a0001c0003t0001g0287 a0001c0003t0001g0316	2	412	0.0049	312	c.630 others(327): Show c.630+156_630+157insGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGG GCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGG CTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCT CCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD10_chr5_116080025_116298287	116163180	T T	TAGAATGT others(305): Show TAGAATGTATTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19080.hp2 HG03516.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0333 a0002c0003t0001g0017 a0001c0001t0001g0333 a0002c0003t0001g0017	2	350	0.0057	312	c.510 others(331): Show c.510+29016_510+29017insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAGAATGTATTTCTT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPB1_chr11_14452512_14504811	14478464	T T	TTTTTTTT others(305): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTGCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18945.hp2 NA18954.hp1 HG00408.hp2 NA18945.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0312 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0312	3	386	0.0078	312	c.135 others(331): Show c.1358+1104_1358+1105insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	11/21			chr11	TogoVar
COX16_chr14_70320081_70364683	70327324	T T	TGAAAAGG others(305): Show TGAAAAGGTTGGACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCACGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03453.hp2 HG02896.hp2 HG02897.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0012g0279 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0012g0279	3	376	0.0080	312	c.205 others(327): Show c.205-876_205-875insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCGTGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGGTCCAACCTTTTC	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	3/3			chr14	TogoVar
CREB1_chr2_207524962_207610988	207607677	T T	TATCATAC others(305): Show TATCATACATACATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAATGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01516.hp1 HG01358.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0099 a0001c0001t0001g0100	2	308	0.0065	312	c.10 others(325): Show c.10619_*10620insATCATACATACATTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAATGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCCC	CREB1	ENSG00000118260.15	transcript	ENST00000353267.8	protein_coding		1690		chr2	TogoVar
CREB3L3_chr19_4148631_4178054	4158201	C C	CAAAACTG others(305): Show CAAAACTGAGGCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	404	0.0025	312	c.457 others(327): Show c.457+918_457+919insTGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAACTGAGGCT	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRLF2_chrX_1185490_1217649	1198193	C C	CAGGACAC others(305): Show CAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCC ACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGG ACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTTCCA GGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCA GGACAGCCTCCCTCCCACCTCCCGGGAAGATAGGACACCCTCCCTCCCAC CTCCCGGGAAGAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0058 a0002c0005t0001g0058	1	167	0.0060	312	c.646 others(327): Show c.646+368_646+369insATCTTCCCGGGAGGTGGGAGGGAGGGTGTC CTATCTTCCCGGGAGGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC CTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGAAGGTGGGAGGGAG GGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGG TGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCT GCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCT	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CRLF2_chrX_1185490_1217649	1198352	G G	GCCTCCCT others(305): Show GCCTCCCTCCCACCTCCCGGGAAGATAGGACACCCTCCCTCCCACCTCCC AGGAAGGCAGGACACCCTCCCTCCCACCTCCTAGGAAGGCAGGACACCCT CCCTCCCACCTCCCGGGAAGACAGGACACCCTCCCTCCCACCTCGAAGGC AGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCA CCTCCTAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAACGCAGGA CACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCGG GAAGATAGGACAC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0069 a0002c0006t0002g0069	1	167	0.0060	312	c.646 others(327): Show c.646+209_646+210insGTGTCCTATCTTCCCGGGAGGTGGGAGGGA GGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCGTTCCTGGGAG GTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGGTGGGAGGGAGGGTGTCC TGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGG GAGGGTGTCCTGTCTTCCCGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCC TAGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGG GTGTCCTATCTTCCCGGGAGGTGGGAGGGAGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240924065	C C	CCACACTA others(305): Show CCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCGGCC CCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCG GCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACT AACCCAGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACAC TAACCCGGCCCCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0199 a0006c0007t0001g0199	1	350	0.0029	312	c.488 others(329): Show c.488+1438_488+1439insACACTGACCCGGCCCCCACACTAACCCG GCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAAC CCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACT AACCCAGCCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCA CACTAACCCGGCCCCTCACACTAACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(305): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGA GGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGA GAGGGAGGGGAGGGGGAGGGGAGGGAGAGGGGAGGGAGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGG GGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0016 a0002c0030t0016	a0002c0030t0016g0122 a0002c0030t0016g0122	1	126	0.0079	312	c.416 others(333): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCCCCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCTCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCC TCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CTNNA3_chr10_65907523_67701195	66577000	T T	TCTTAACT others(305): Show TCTTAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0019 a0001c0001t0019g0019	1	46	0.0217	312	c.137 others(333): Show c.1374+44691_1374+44692insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAA AATACAAAAAATTAGCCGGGCGCGGTGGTGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACA GAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAGTTAAG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	10/17			chr10	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(305): Show ATATATATGTGTATATATATATATATATATATATATATATGTGTATATAT ATATATATATATATATATATGTGTGTATATATATATATATATATGTGTGT ATATATATATATATATATGTGTATATATATATATATATATATATGTGTAT ATATATATATATATGTGTGTGTATATATATATATATATGTGTATATATAT ATATATATATATATGTGTATATATATATATATATATATGTGTATATATAT ATATATATATATGTGTATATATATATATATATATATATGTGTATATATAT ATATATATATATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0266 a0002c0002t0003g0266	1	334	0.0030	312	c.290 others(327): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATATATGTGTATATATATATATATATATATATATATGTGTGTATATATA TATATATATATGTGTGTATATATATATATATATATGTGTATATATATATA TATATATATATGTGTATATATATATATATATGTGTGTGTATATATATATA TATATGTGTATATATATATATATATATATATGTGTATATATATATATATA TATATGTGTATATATATATATATATATATGTGTATATATATATATATATA TATATGTGTATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(305): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCCTCTCCCCTCCC CCCTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCC CCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCT CCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCCTC CCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCC TCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTC CCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	292	0.0034	312	c.165 others(327): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGG GGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGAGGGGGG AGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGG GGAGGGGGAGAGGAGAGGAGGGGAGGGGAAGGGGGGAGGGGAGAGGGGGA GGGGGAGGGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(305): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAACACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02055.hp2 HG02145.hp2 others(10): Show HG01975.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp1 HG02572.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0102 a0001c0001t0005g0020 a0001c0001t0005g0096 others(9): Show a0001c0001t0001g0102 a0001c0001t0005g0020 a0001c0001t0005g0096 a0001c0001t0005g0097 a0001c0001t0005g0099 a0001c0001t0005g0100 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0297	13	416	0.0313	312	c.500 others(329): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(305): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03486.hp2 others(1): Show HG01167.hp1 HG01169.hp2 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0156 a0001c0001t0001g0179 a0001c0001t0001g0028 a0001c0001t0001g0156 a0001c0001t0001g0179	4	416	0.0096	312	c.500 others(329): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(305): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19030.hp2 HG01884.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0274 a0001c0001t0001g0275	2	416	0.0048	312	c.500 others(329): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DCUN1D4_chr4_51838153_51921837	51897576	T T	TAAAAATA others(305): Show TAAAAATAACCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0113 a0001c0001t0006g0113	1	262	0.0038	312	c.507 others(329): Show c.507-1682_507-1681insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAATAACCAA	DCUN1D4	ENSG00000109184.15	transcript	ENST00000334635.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDI1_chr11_104031640_104044196	104041415	C C	CAAAAATC others(305): Show CAAAAATCCTCCTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGCAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0000 a0001c0005t0017g0000	1	448	0.0022	312	c.34 others(323): Show c.3402_*3403insAAAAATCCTCCTCTTGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGCAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCAGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAA	DDI1	ENSG00000170967.5	transcript	ENST00000302259.5	protein_coding		2220		chr11	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(305): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC GCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCC GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	312	c.27 others(323): Show c.2765_*2766insAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG CGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGG CGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGC GGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAG GCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGG CGCGGGGAGGCGGCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(305): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCAC CCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCAC CCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCC CCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0095 a0013c0018t0001g0095	1	320	0.0031	312	c.39 others(323): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIP2C_chr10_269201_694668	608582	C C	CCACACAC others(305): Show CCACACACACACCCCCCCCCACACACACACCCCCCCCCCACACACACACC CCCCCCCCCACACACACACCCCCCCCCACACACACACACCCCCCCCCCCC ACACACACACCCCCCCCCACACACACACACACACACCCCCACACACACAC ACACACCCCCCCCCACACACACACCCCCCCCACACACACACACACCCCCC CCACACACACACACATCCCCCCCCACACACACACACATCCCCCCCCACAC ACACACACATCCCCCCCCACACACACACACATCCCCCCCCACACACACAC ACATCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	88	0.0114	312	c.85+ others(329): Show c.85+80911_85+80912insTGGGGGGGGATGTGTGTGTGTGTGGGGG GGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATG TGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGTGTGTGTGT GTGTGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGTGGGGG TGTGTGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGGGGGGGGGGGGTGT GTGTGTGTGGGGGGGGGTGTGTGTGTGGGGGGGGGGGTGTGTGTGTGGGG GGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	894845	G G	GCTGGCAG others(305): Show GCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGC GGCTGGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGCTGGCAGGGGCGG GGTGGGGAGAGCGGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGA GTGGTGACTGGCAGGGGTAGCGGCCGGCAGGGGCGGGGTGGGGGGAGTGG AGTGGCGGTTGGCAGGGGCGGGGTGGGGAAAGTGGGGTGGTGGATGGCAG GGGTGGCATGGGAAGAGCAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAG AGCGGAGTGGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	312	c.19- others(329): Show c.19-13015_19-13014insTGGCAGGGGCGGGGTGGGGGGAGTGGAG TGGCGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGGCTGGCAGGG GCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCCGGCAGG GGCGGGGTGGGGGGAGTGGAGTGGCGGTTGGCAGGGGCGGGGTGGGGAAA GTGGGGTGGTGGATGGCAGGGGTGGCATGGGAAGAGCAGAGTGGTGGCTG GCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGCGGGGTGG GGAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF5_chr7_721699_791475	746324	T T	TCATGCCT others(305): Show TCATGCCTAGGGCCTGTGACGCCCTCCTTACCGTCCTGCTGCCCCCCACC CAACATGCCCAGGGCCTGTGACGCCCTCCTTACCGTCCTGCTGCCCCCCG CCCGTCATGCCTAGGGCCTGTGACGCCCTCCTTACCGTCCTGCTGCCCCC CACCCAACATGCCCAGGGTTTGTGACGCCCTCCTTACCGTCCTGCTGCCC CCCACCCAACATGCCCAGGGCCTGTGACGCCCTCCTTACCGTCCTGCTGC CCCCCACCCAACATGCCCAGGGCCTGTGACGCCCTCCTTACCGTCCTGCT GCCCCCCACCCAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	378	0.0027	312	c.102 others(331): Show c.1024+4865_1024+4866insTAGGGCCTGTGACGCCCTCCTTACCG TCCTGCTGCCCCCCACCCAACATGCCCAGGGCCTGTGACGCCCTCCTTAC CGTCCTGCTGCCCCCCGCCCGTCATGCCTAGGGCCTGTGACGCCCTCCTT ACCGTCCTGCTGCCCCCCACCCAACATGCCCAGGGTTTGTGACGCCCTCC TTACCGTCCTGCTGCCCCCCACCCAACATGCCCAGGGCCTGTGACGCCCT CCTTACCGTCCTGCTGCCCCCCACCCAACATGCCCAGGGCCTGTGACGCC CTCCTTACCGTCCTGCTGCCCCCCACCCAACATGCC	DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAAF9_chr20_3244306_3412669	3261761	T T	TAAGATTT others(305): Show TAAGATTTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03486.hp1 HG02080.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0013 a0001c0003t0006 a0001c0003t0013	a0001c0003t0006g0350 a0001c0003t0013g0361 a0001c0003t0006g0350 a0001c0003t0013g0361	2	362	0.0055	312	c.287 others(331): Show c.2874-1734_2874-1733insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGCAAAAATCTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	31/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3261761	T T	TAAGATTT others(305): Show TAAGATTTTTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19000.hp2 HG02572.hp1 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0012 a0001c0003t0005 a0001c0003t0012	a0001c0003t0005g0333 a0001c0003t0012g0031 a0001c0003t0005g0333 a0001c0003t0012g0031	2	362	0.0055	312	c.287 others(331): Show c.2874-1734_2874-1733insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGCAAAAATCTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	31/36			chr20	TogoVar
DNAH11_chr7_21538039_21906839	21584948	T T	TAAAAAAA others(305): Show TAAAAAAAATGTAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0028 a0028	a0028c0013 a0028c0013	a0028c0013t0001 a0028c0013t0001	a0028c0013t0001g0101 a0028c0013t0001g0101	1	298	0.0034	312	c.171 others(331): Show c.1710+2940_1710+2941insTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCC GGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTAG	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	9/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNM2_chr19_10713079_10836903	10758435	C C	CTCCCTCC others(305): Show CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC TTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCT CCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCC TTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG04115.hp1 HG02074.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0247 a0001c0002t0001g0002 a0001c0002t0001g0247	2	278	0.0072	312	c.162 others(329): Show c.162-1292_162-1291insCTCCCTCCTTCCTTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCT CCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCT CCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOCK1_chr10_126900428_127457516	127392028	A A	AGCATCTG others(305): Show AGCATCTGGCCTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0039 a0004c0039	a0004c0039t0003 a0004c0039t0003	a0004c0039t0003g0006 a0004c0039t0003g0006	1	136	0.0074	312	c.392 others(331): Show c.3927+7133_3927+7134insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGCATCTGGCCTTCT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK5_chr8_25179689_25420711	25315130	A A	AATATAAA others(305): Show AATATAAAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACA GAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0027 a0003c0019t0027	a0003c0019t0027g0143 a0003c0019t0027g0143	1	210	0.0048	312	c.131 others(331): Show c.1319-1873_1319-1872insAAAAATTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTT TTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	13/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH6_chr15_35365880_35551165	35457361	T T	TCAATAAT others(305): Show TCAATAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT GTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCC GCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18956.hp1 NA19082.hp2 others(1): Show NA18747.hp1 NA18956.hp1 NA19082.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011	4	228	0.0175	312	c.313 others(329): Show c.313-2542_313-2541insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAATTATTG	DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8			chr15	TogoVar
DPP6_chr7_154047398_154899285	154268951	T T	TAAAAATG others(305): Show TAAAAATGCCCATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01071.hp2 HG01952.hp1 others(7): Show HG00673.hp1 HG01071.hp2 HG01952.hp1 HG01978.hp1 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02559.hp1 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0016 others(4): Show a0001c0001 a0001c0006 a0001c0016 a0001c0025 a0001c0027 a0002c0013 a0002c0019	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0006t0002 a0001c0006t0003 a0001c0016t0013 a0001c0025t0001 a0001c0027t0027 a0002c0013t0018 a0002c0019t0001	a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 others(7): Show a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0006t0002g0015 a0001c0006t0003g0013 a0001c0016t0013g0014 a0001c0025t0001g0018 a0001c0027t0027g0007 a0002c0013t0018g0026 a0002c0019t0001g0021	10	38	0.2632	312	c.244 others(333): Show c.244-177249_244-177248insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAATGCCCATCT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154268951	T T	TAAAAATG others(305): Show TAAAAATGCCCATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02559.hp2 HG02922.hp2 others(1): Show HG01978.hp2 HG02559.hp2 HG02922.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0010 a0001c0021 others(1): Show a0001c0007 a0001c0010 a0001c0021 a0002c0005	a0001c0007t0019 a0001c0010t0010 a0001c0021t0011 others(1): Show a0001c0007t0019 a0001c0010t0010 a0001c0021t0011 a0002c0005t0015	a0001c0007t0019g0037 a0001c0010t0010g0009 a0001c0021t0011g0022 others(1): Show a0001c0007t0019g0037 a0001c0010t0010g0009 a0001c0021t0011g0022 a0002c0005t0015g0011	4	38	0.1053	312	c.244 others(333): Show c.244-177249_244-177248insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAATGCCCATCT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPY19L4_chr8_94714900_94798836	94782492	T T	TTACTGTG others(305): Show TTACTGTGGCCATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCG CCCCCTGGGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03041.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0071 a0001c0001t0001g0024 a0001c0001t0001g0071	2	290	0.0069	312	c.171 others(331): Show c.1716-1162_1716-1161insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTACTGTGGCCATTTTT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYSF_chr2_71448561_71691763	71617879	G G	GGTGTGTG others(305): Show GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTGTGTG TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTATATGTGTGTGTG TGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAG GTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGTGT GTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTATATGTGTGTGTG GTAGAGATGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02683.hp1 HG02486.hp1 HG02683.hp1	a0001 a0001	a0001c0011 a0001c0017 a0001c0011 a0001c0017	a0001c0011t0001 a0001c0017t0001 a0001c0011t0001 a0001c0017t0001	a0001c0011t0001g0075 a0001c0017t0001g0034 a0001c0011t0001g0075 a0001c0017t0001g0034	2	192	0.0104	312	c.441 others(331): Show c.4410+4478_4410+4479insTGGTAGAGGTGGGGTGTGTGTGTGGT AGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGG TATATGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGAT GGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGGTAGAGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG TATATGTGTGTGTGGTAGAGATGGGGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71617879	G G	GGTGTGTG others(305): Show GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTGTGTG TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTATATGTGTGTGTG TGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTG GTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAG GTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGTGT GTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTATATGTGTGTGTG GTAGAGATGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02683.hp2 HG02486.hp2 HG02683.hp2	a0001 a0001	a0001c0008 a0001c0018 a0001c0008 a0001c0018	a0001c0008t0001 a0001c0018t0001 a0001c0008t0001 a0001c0018t0001	a0001c0008t0001g0126 a0001c0018t0001g0088 a0001c0008t0001g0126 a0001c0018t0001g0088	2	208	0.0096	312	c.446 others(331): Show c.4465-2659_4465-2658insTGGTAGAGGTGGGGTGTGTGTGTGGT AGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGG TATATGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGAT GGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGGTAGAGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG TATATGTGTGTGTGGTAGAGATGGGGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFCAB2_chr1_244964682_245092837	245012486	T T	TGAAAGAT others(305): Show TGAAAGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCACCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCATTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02258.hp1 HG02559.hp1 others(15): Show HG01433.hp1 HG02258.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02895.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 NA19030.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0136 others(15): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0002t0002g0273 a0001c0002t0002g0275 a0001c0002t0002g0276	18	290	0.0621	312	c.26- others(327): Show c.26-4746_26-4745insTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCATTTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGAAAGATTTT	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EML1_chr14_99788413_99947060	99927838	T T	TGGTGGTG others(305): Show TGGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGGTGGGGGTGGGGGTG GGGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0266 a0001c0004t0005g0266	1	288	0.0035	312	c.190 others(331): Show c.1909+6968_1909+6969insGTAGTGGTAGTAGTGGTGGCGGTGGT GGTGGGGGTGGGGGTGGGGGTGGTGGTGGTATTGGTGGTGGTGGTGATGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928122	G G	GTGATGGT others(305): Show GTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGG TGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0187 a0003c0002t0001g0187	1	288	0.0035	312	c.190 others(331): Show c.1909+7245_1909+7246insTGATGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21			chr14	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(305): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp1 HG01517.hp2 HG00741.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	3	428	0.0070	312	c.83+ others(325): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGC CACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPB41_chr1_28909569_29125041	28994950	G G	GCACCCAG others(305): Show GCACCCAGCCTTATTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	312	0.0032	312	c.681 others(329): Show c.681+1426_681+1427insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGAGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCACCCAGCCTTATTTCTT	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results