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
ACAP3_chr1_1287391_1312930	1289225	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	273	0.0037	34	c.43 others(45): Show c.4338_*4339insACGGGGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3165		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289225	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	273	0.0037	34	c.43 others(45): Show c.4338_*4339insACGGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3165		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289225	C C	CCGTGTCT others(27): Show CCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	273	0.0037	34	c.43 others(45): Show c.4338_*4339insACGGAGCAGAGACACGGGGGACGGAGCAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3165		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	260	0.0038	34	c.43 others(45): Show c.4300_*4301insACGGGGCAGAGACACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	260	0.0038	34	c.43 others(45): Show c.4300_*4301insACGGGGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02155.hp1 HG00639.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0022 a0001c0001t0001g0040	2	261	0.0077	34	c.43 others(45): Show c.4300_*4301insACGGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	270	0.0037	34	c.42 others(45): Show c.4206_*4207insACGGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3033		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289395	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02155.hp1 HG01934.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0022 a0001c0001t0001g0036	2	274	0.0073	34	c.41 others(45): Show c.4168_*4169insACGGAGCAGGGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2995		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289395	C C	CCGTGTCT others(27): Show CCGTGTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	273	0.0037	34	c.41 others(45): Show c.4168_*4169insACGGGGCAGAGACACGGGGGACGGAGCAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2995		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289671	C C	CCCCGTGT others(27): Show CCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	270	0.0037	34	c.38 others(45): Show c.3892_*3893insACGGAGCAGAGACACGGGACGGAGCAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2719		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289727	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0190 a0001c0010t0001g0190	1	266	0.0038	34	c.38 others(45): Show c.3836_*3837insACGGAGCAGGGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2663		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289747	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	275	0.0036	34	c.38 others(45): Show c.3816_*3817insACGGGGCAGAGACACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2643		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	253	0.0040	34	c.37 others(45): Show c.3778_*3779insACGGAGCAGGGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2605		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	253	0.0040	34	c.37 others(45): Show c.3778_*3779insACGGAGCAGAGACACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2605		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	253	0.0040	34	c.37 others(45): Show c.3778_*3779insACGGAGCAGACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2605		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289785	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	253	0.0040	34	c.37 others(45): Show c.3778_*3779insACGGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2605		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289854	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0027 a0001c0005t0002g0027	1	232	0.0043	34	c.37 others(45): Show c.3709_*3710insACGGAGCAGACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2536		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289854	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	232	0.0043	34	c.37 others(45): Show c.3709_*3710insACGGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2536		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289928	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0154 a0001c0022t0001g0154	1	263	0.0038	34	c.36 others(45): Show c.3635_*3636insACGGAGCAGAGACACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2462		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	228	0.0044	34	c.34 others(45): Show c.3435_*3436insACGGAGCAGGGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	228	0.0044	34	c.34 others(45): Show c.3435_*3436insATGGAGCAGAGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG03209.hp2 HG02155.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0103 a0001c0001t0001g0022 a0001c0001t0001g0103	2	229	0.0087	34	c.34 others(45): Show c.3435_*3436insACGGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	13	0.0769	34	c.73- others(47): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074750	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0177 a0002c0018t0001g0177	1	235	0.0043	34	c.489 others(47): Show c.489+94_489+95insCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77025392	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0140 a0001c0003t0140	a0001c0003t0140g0332 a0001c0003t0140g0332	1	108	0.0093	34	c.50 others(45): Show c.5084_*5085insATATATATATATATATATATATATATATATATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11	5085	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACLY_chr17_41861918_41923951	41900069	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0261 a0002c0002t0003g0261	1	22	0.0455	34	c.118 others(53): Show c.1184-1285_1184-1284insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	11/28			chr17	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 NA19012.hp2 NA19080.hp2 HG02630.hp2 NA19012.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0027 a0001c0002t0001g0004 a0001c0002t0001g0027	3	97	0.0309	34	c.-43 others(45): Show c.-4302_-4301insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT9_chrX_23696055_23748276	23742209	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0065 a0001c0001t0012g0065	1	128	0.0078	34	c.20+ others(47): Show c.20+915_20+916insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOXL_chr2_110727573_111123548	110745727	C C	CGTGCAAG others(27): Show CGTGCAAGGAACCAATGTCTGACTAAAGAGATGAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	148	0.0068	34	c.-23 others(53): Show c.-23+12957_-23+12990dupCAAGGAACCAATGTCTGACTAAAGAG ATGAAGTG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110950810	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19011.hp1 HG04115.hp1 NA19011.hp1	a0002 a0012 a0002 a0012	a0002c0017 a0012c0014 a0002c0017 a0012c0014	a0002c0017t0001 a0012c0014t0001 a0002c0017t0001 a0012c0014t0001	a0002c0017t0001g0094 a0012c0014t0001g0111 a0002c0017t0001g0094 a0012c0014t0001g0111	2	69	0.0290	34	c.105 others(55): Show c.1059+17193_1059+17194insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP3_chr3_132312407_132363841	132325595	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 NA19004.hp2 others(3): Show HG01433.hp2 HG02145.hp1 NA19004.hp2 NA19079.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0001t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0092 a0001c0002t0003g0091 a0001c0002t0003g0122 others(3): Show a0001c0001t0001g0092 a0001c0002t0003g0091 a0001c0002t0003g0122 a0001c0002t0004g0123 a0001c0002t0004g0128 a0001c0002t0004g0170	6	139	0.0432	34	c.121 others(51): Show c.121-2648_121-2647insACACACACACACACACACACACACACAC ACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132348999	T T	TCACACAC others(27): Show TCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG01192.hp2 others(13): Show HG00738.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01433.hp2 HG01515.hp2 HG02004.hp1 HG02293.hp2 HG03490.hp2 HG03579.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011	a0001c0002t0003g0054 a0001c0002t0003g0122 a0001c0002t0003g0141 others(13): Show a0001c0002t0003g0054 a0001c0002t0003g0122 a0001c0002t0003g0141 a0001c0002t0003g0200 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0268 a0001c0002t0003g0286 a0001c0002t0004g0063 a0001c0002t0004g0123 a0001c0002t0004g0125 a0001c0002t0004g0126 a0001c0002t0004g0127 a0001c0002t0004g0140 a0001c0002t0011g0258 a0001c0002t0011g0281	16	274	0.0584	34	c.782 others(49): Show c.782-906_782-905insACACACACACACACACACACACACACACAC ACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP5_chr19_11569660_11582645	11576006	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	218	0.0046	34	c.735 others(49): Show c.735+236_735+237insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/4			chr19	TogoVar
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02698.hp1 HG03471.hp2 others(9): Show HG01981.hp2 HG02698.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp2 NA18979.hp2 NA19072.hp2 NA19084.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0003c0014	a0001c0001t0001 a0001c0001t0006 a0001c0006t0010 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0006t0010 a0001c0007t0006 a0003c0014t0001	a0001c0001t0001g0087 a0001c0001t0001g0322 a0001c0001t0001g0363 others(9): Show a0001c0001t0001g0087 a0001c0001t0001g0322 a0001c0001t0001g0363 a0001c0001t0001g0367 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0006t0010g0205 a0001c0006t0010g0206 a0001c0006t0010g0209 a0001c0007t0006g0038 a0001c0007t0006g0109 a0003c0014t0001g0361	12	175	0.0686	34	c.122 others(51): Show c.122-5285_122-5284insTTCTTTCTTTCTTTCCTTCCTTCCTTCC TTCCTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSF3_chr16_89088852_89161233	89158290	T T	TCACGCCT others(27): Show TCACGCCTGCATATGTCACATGTATGTGTATCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(30): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00673.hp1 HG01243.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02155.hp1 HG02523.hp2 HG02965.hp1 HG02976.hp2 HG03453.hp2 HG03486.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18961.hp1 NA18968.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0003c0006 a0003c0007 a0003c0008 a0012c0022	a0001c0001t0001 a0001c0001t0031 a0002c0002t0007 others(8): Show a0001c0001t0001 a0001c0001t0031 a0002c0002t0007 a0002c0003t0005 a0002c0003t0050 a0003c0006t0007 a0003c0006t0046 a0003c0006t0057 a0003c0007t0007 a0003c0008t0047 a0012c0022t0007	a0001c0001t0001g0266 a0001c0001t0031g0265 a0002c0002t0007g0114 others(29): Show a0001c0001t0001g0266 a0001c0001t0031g0265 a0002c0002t0007g0114 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0005g0080 a0002c0003t0050g0235 a0003c0006t0007g0005 a0003c0006t0007g0022 a0003c0006t0007g0049 a0003c0006t0007g0055 a0003c0006t0007g0056 a0003c0006t0007g0058 a0003c0006t0007g0059 a0003c0006t0007g0060 a0003c0006t0007g0062 a0003c0006t0007g0072 a0003c0006t0007g0073 a0003c0006t0007g0074 a0003c0006t0007g0111 a0003c0006t0046g0061 a0003c0006t0057g0338 a0003c0007t0007g0050 a0003c0007t0007g0053 a0003c0007t0007g0054 a0003c0007t0007g0069 a0003c0007t0007g0097 a0003c0007t0007g0098 a0003c0007t0007g0099 a0003c0008t0047g0057 a0012c0022t0007g0068	33	231	0.1429	34	c.40 others(45): Show c.4083_*4084insCACGCCTGCATATGTCACATGTATGTGTATCTCA	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		2058		chr16	TogoVar
ACSF3_chr16_89088852_89161233	89158290	T T	TCACGCCT others(27): Show TCACGCCTGCATATGTCACATGTATGTGTGTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01978.hp1 HG01928.hp1 HG01978.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0051 a0003c0007t0007g0052 a0003c0007t0007g0051 a0003c0007t0007g0052	2	200	0.0100	34	c.40 others(45): Show c.4083_*4084insCACGCCTGCATATGTCACATGTATGTGTGTCTCA	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		2058		chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423217	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	240	0.0042	34	c.159 others(51): Show c.1593+777_1593+778insTATATATATATATATATATATATATATA TATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19054.hp2 NA18954.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0264 a0001c0001t0001g0011 a0001c0001t0001g0264	2	149	0.0134	34	c.159 others(51): Show c.1593+779_1593+780insTATATATATATATATATATATATATATA TATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03130.hp2 HG02080.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0178 a0001c0001t0001g0149 a0001c0001t0001g0178	2	28	0.0714	34	c.159 others(51): Show c.1593+781_1593+782insAATATATATATATATATATATATATATA TATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18964.hp1 NA19057.hp2 HG02572.hp2 NA18964.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0127 a0001c0001t0001g0201 a0001c0001t0001g0213	3	29	0.1034	34	c.159 others(51): Show c.1593+803_1593+804insTATATATATATATATATATATATATATA TATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM2B_chr16_20531226_20581367	20566700	A A	ATATATAC others(27): Show ATATATACTATATATACTATATATAGTATATATAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03927.hp1 HG03704.hp1 HG03927.hp1	a0003 a0003	a0003c0008 a0003c0025 a0003c0008 a0003c0025	a0003c0008t0003 a0003c0025t0003 a0003c0008t0003 a0003c0025t0003	a0003c0008t0003g0125 a0003c0025t0003g0124 a0003c0008t0003g0125 a0003c0025t0003g0124	2	158	0.0127	34	c.-8- others(49): Show c.-8-1848_-8-1847insGTATATATACTATATATAGTATATATAGTA TATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20566723	T T	TATATATC others(27): Show TATATATCTATATATACTATATATACTATATATAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01074.hp1 others(15): Show HG00597.hp2 HG00673.hp2 HG01074.hp1 HG01168.hp2 HG01256.hp2 HG01943.hp2 HG02027.hp1 HG02056.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02602.hp2 NA18947.hp1 NA18966.hp2 NA18990.hp1 NA19007.hp1 NA19062.hp1 NA19067.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0001c0004 a0015c0030 a0001c0001 a0001c0004 a0015c0030	a0001c0001t0003 a0001c0001t0008 a0001c0004t0002 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0004t0002 a0001c0004t0007 a0015c0030t0018	a0001c0001t0003g0127 a0001c0001t0003g0142 a0001c0001t0003g0144 others(13): Show a0001c0001t0003g0127 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0008g0328 a0001c0004t0002g0016 a0001c0004t0002g0130 a0001c0004t0002g0140 a0001c0004t0002g0141 a0001c0004t0002g0143 a0001c0004t0002g0145 a0001c0004t0002g0148 a0001c0004t0002g0149 a0001c0004t0002g0154 a0001c0004t0002g0155 a0001c0004t0007g0017 a0015c0030t0018g0146	18	383	0.0470	34	c.-8- others(49): Show c.-8-1871_-8-1870insGTATATATAGTATATATAGTATATATAGAT ATAT	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACSM5_chr16_20404534_20446336	20430094	A A	ATAATGTA others(27): Show ATAATGTACACTACTCAGCTTACAGATGCACGTAG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0105 a0003c0003t0003g0105	1	432	0.0023	34	c.112 others(51): Show c.1125+323_1125+324insGTAGTAATGTACACTACTCAGCTTACAG ATGCAC	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTCTT others(27): Show TTTCTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02523.hp2 HG03225.hp2 HG01361.hp1 HG02523.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0263 a0001c0001t0001g0293 a0001c0001t0001g0010 a0001c0001t0001g0263 a0001c0001t0001g0293	3	159	0.0189	34	c.375 others(53): Show c.375-13670_375-13669insTCTTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTTTC others(27): Show TTTCTTTCTCTTTCTTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0148 a0002c0004t0001g0148	1	157	0.0064	34	c.375 others(53): Show c.375-13670_375-13669insTTTCTCTTTCTTTCCTTCCTTCCTTC CTTCCTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTCTT others(27): Show TCTCTCTTCTCTTCTCTTCTCTTCTCTCTTCTCTC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0228 a0001c0001t0030g0228	1	139	0.0072	34	c.135 others(53): Show c.1355-3056_1355-3055insTTCTCTTCTCTTCTCTTCTCTCTTCT CTCCTCTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(27): Show TCTCTTCTCTTCTCTTCTCTTCTCTCTCTCCTCTC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0269 a0002c0009t0002g0269	1	139	0.0072	34	c.135 others(53): Show c.1355-3057_1355-3056insTCTCTTCTCTTCTCTTCTCTCTCTCC TCTCCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213976	T T	TTTCTTTC others(27): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	288	0.0035	34	c.135 others(53): Show c.1355-2894_1355-2893insTTCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTG2_chr2_73888008_73924865	73905635	T T	TTTTTTTT others(27): Show TTTTTTTTTTTTTGTGTTTTTTTGGACAAACCCCC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0081 a0001c0002t0002g0081	1	414	0.0024	34	c.256 others(51): Show c.256-3038_256-3037insTTTTTTTTTTTTGTGTTTTTTTGGACAA ACCCCC	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8			chr2	TogoVar
ACTN1_chr14_68869128_68984302	68881936	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	256	0.0039	34	c.195 others(51): Show c.1953+521_1953+522insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar

Search by Variant

Search

Search Results