Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DEPDC5_chr22_31749019_31913033	31902408	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0181 a0001c0002t0003g0181	1	204	0.0049	36	c.443 others(53): Show c.4436+634_4436+635insTATATATATATATATATATATATATATA TATATATA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPTOR_chr8_119868722_120055918	119980453	T T	TTTTTTCT others(29): Show TTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0004 a0002c0001t0013g0004	1	198	0.0051	36	c.604 others(55): Show c.604+15047_604+15048insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0156 a0001c0003t0003g0156	1	198	0.0051	36	c.791 others(51): Show c.791-185_791-184insAAAAAATATATATATATATATATATATATA TATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0143 a0003c0004t0002g0143	1	198	0.0051	36	c.791 others(51): Show c.791-185_791-184insAAAATATATATATATATATATATATATATA TATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19011.hp2 HG03669.hp1 NA19011.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0168 a0003c0004t0002g0176 a0003c0004t0002g0168 a0003c0004t0002g0176	2	198	0.0101	36	c.791 others(51): Show c.791-185_791-184insAATATATATATATATATATATATATATATA TATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0175 a0001c0003t0004g0175	1	198	0.0051	36	c.791 others(51): Show c.791-165_791-164insTATATATATATATATATATATATATATATA TATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(29): Show GGGTGGGGGGGTGGGGGGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	308	0.0033	36	c.67 others(47): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCCCCCCACCCCCCCA CC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DGCR2_chr22_19031286_19127412	19062775	G G	GCTCTCTC others(29): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0140 a0002c0002t0018g0140	1	344	0.0029	36	c.625 others(51): Show c.625+426_625+427insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR2_chr22_19031286_19127412	19062779	A A	ACTCTCTC others(29): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0165 a0002c0002t0002g0165	1	344	0.0029	36	c.625 others(51): Show c.625+422_625+423insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(29): Show TGTGTGTGTGCGCGCGCGCGCGTGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	36	c.-28 others(47): Show c.-2845_-2844insGCGTGCGCGCGCGCACGCGCGCGCGCGCACACAC AC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03654.hp2 NA19065.hp1 HG03130.hp1 HG03654.hp2 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	3	392	0.0077	36	c.-28 others(47): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCGCACACACAC AC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02738.hp2 NA19000.hp2 HG01106.hp1 HG02738.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0047 a0001c0002t0002g0002 a0001c0002t0002g0047	3	392	0.0077	36	c.-28 others(47): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCACACACACAC AC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	392	0.0026	36	c.-28 others(47): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCACACACACACAC AC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 NA18944.hp1 NA20905.hp2 HG02135.hp1 NA18944.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	392	0.0077	36	c.-28 others(47): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCGCACACACACACAC AC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18993.hp2 NA18967.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0005 a0001c0002t0002g0002 a0001c0001t0003g0005 a0001c0002t0002g0002	2	392	0.0051	36	c.-28 others(47): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCACACACACACACAC AC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01433.hp1 HG01943.hp2 others(10): Show HG00673.hp2 HG01433.hp1 HG01943.hp2 HG02015.hp2 HG02647.hp1 HG03669.hp1 HG04115.hp1 NA18960.hp2 NA18975.hp1 NA18975.hp2 NA19007.hp2 NA19057.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0033 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0002g0003 a0001c0002t0002g0002	13	392	0.0332	36	c.-28 others(47): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCACACACACACACAC AC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGCGCGCGTGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	36	c.-28 others(47): Show c.-2845_-2844insGCATGCGCGCGCACGCGCGCACACACACACACAC AC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGCGCGCTGCGGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	392	0.0026	36	c.-28 others(47): Show c.-2845_-2844insGCATGCGCGCCGCAGCGCGCACACACACACACAC AC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	392	0.0026	36	c.-28 others(47): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCACACACACACACACAC AC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG01516.hp2 others(12): Show HG00280.hp2 HG00408.hp2 HG01516.hp2 HG02300.hp2 HG02886.hp1 HG03834.hp2 HG04228.hp2 NA18747.hp2 NA18959.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA19003.hp1 NA19076.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0042 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0002g0003 a0001c0002t0002g0002	15	392	0.0383	36	c.-28 others(47): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACACACACACACACAC AC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	392	0.0026	36	c.-28 others(47): Show c.-2845_-2844insGCATGCGCGCGCGCGCACACACACACACACACAC AC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14418377	A A	ATACACAC others(29): Show ATACACACACACACATATATTCACATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02630.hp1 others(5): Show HG02280.hp2 HG02486.hp1 HG02630.hp1 HG02717.hp1 HG02818.hp1 HG02897.hp1 HG03471.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0006 others(2): Show a0001c0002 a0001c0003 a0001c0006 a0001c0013 a0002c0005	a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0001c0003t0035 a0001c0006t0004 a0001c0013t0017 a0002c0005t0011	a0001c0002t0001g0017 a0001c0002t0003g0058 a0001c0002t0003g0081 others(5): Show a0001c0002t0001g0017 a0001c0002t0003g0058 a0001c0002t0003g0081 a0001c0002t0013g0104 a0001c0003t0035g0126 a0001c0006t0004g0145 a0001c0013t0017g0084 a0002c0005t0011g0079	8	148	0.0541	36	c.183 others(57): Show c.1835+59783_1835+59784insCACACATATATATGTGAATATATG TGTGTGTGTGTA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14418377	A A	ATATACAC others(29): Show ATATACACACACACATATATTCACATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp1 others(29): Show HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG01074.hp2 HG01255.hp1 HG01952.hp2 HG01978.hp1 HG02056.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02523.hp2 HG02622.hp1 HG02735.hp1 HG03453.hp1 HG04115.hp2 HG04204.hp1 NA18612.hp2 NA18951.hp1 NA18951.hp2 NA18968.hp1 NA18988.hp1 NA19002.hp1 NA19002.hp2 NA19057.hp2 NA19081.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0001c0016 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0021 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0003t0001 a0001c0003t0003 a0001c0003t0015 a0001c0004t0001 a0001c0004t0010 a0001c0014t0001 a0001c0016t0001 a0002c0005t0006	a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0098 others(29): Show a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0002g0048 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0007g0132 a0001c0001t0008g0123 a0001c0001t0016g0042 a0001c0001t0021g0029 a0001c0001t0028g0095 a0001c0002t0001g0070 a0001c0002t0001g0090 a0001c0002t0001g0096 a0001c0002t0002g0074 a0001c0002t0002g0137 a0001c0002t0012g0120 a0001c0003t0001g0136 a0001c0003t0003g0056 a0001c0003t0015g0086 a0001c0004t0001g0032 a0001c0004t0001g0035 a0001c0004t0001g0108 a0001c0004t0010g0100 a0001c0014t0001g0018 a0001c0016t0001g0039 a0002c0005t0006g0139	32	148	0.2162	36	c.183 others(57): Show c.1835+59783_1835+59784insCACACATATATATGTGAATATATG TGTGTGTGTATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14567345	A A	ATATATAA others(29): Show ATATATAATATATTATATATATTATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	148	0.0068	36	c.177 others(55): Show c.1770+6866_1770+6867insATATATAAATATATAATATATATAAT ATATTATATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	20/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186223011	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01978.hp2 HG02300.hp1 others(6): Show HG00140.hp2 HG01978.hp2 HG02300.hp1 HG02523.hp1 HG02809.hp2 HG03491.hp1 HG03710.hp1 NA18957.hp2 NA18977.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0002c0005 others(1): Show a0001c0002 a0002c0001 a0002c0005 a0004c0008	a0001c0002t0001 a0001c0002t0007 a0002c0001t0001 others(3): Show a0001c0002t0001 a0001c0002t0007 a0002c0001t0001 a0002c0005t0001 a0002c0005t0005 a0004c0008t0005	a0001c0002t0001g0050 a0001c0002t0001g0134 a0001c0002t0007g0049 others(6): Show a0001c0002t0001g0050 a0001c0002t0001g0134 a0001c0002t0007g0049 a0002c0001t0001g0075 a0002c0001t0001g0127 a0002c0001t0001g0153 a0002c0005t0001g0158 a0002c0005t0005g0010 a0004c0008t0005g0027	9	234	0.0385	36	c.182 others(57): Show c.1827-11127_1827-11126insTATATATATATATATATATATATA TATATATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186302476	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATACATATGTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0052 a0002c0001t0005g0052	1	234	0.0043	36	c.145 others(53): Show c.145-4248_145-4247insCACATATGTATATATATATATATATATA TATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186326397	T T	TCAAAAAA others(29): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0234 a0001c0002t0038g0234	1	234	0.0043	36	c.-24 others(55): Show c.-248-5691_-248-5690insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0013 a0001c0008t0013	a0001c0008t0013g0207 a0001c0008t0013g0207	1	316	0.0032	36	c.623 others(47): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137448566	A A	AGAAGGAG others(29): Show AGAAGGAGGAGGGAGGGAAGGAAGGGAGGGAGGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03225.hp2 HG01243.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0009 a0001c0004 a0001c0009	a0001c0004t0038 a0001c0009t0050 a0001c0004t0038 a0001c0009t0050	a0001c0004t0038g0069 a0001c0009t0050g0080 a0001c0004t0038g0069 a0001c0009t0050g0080	2	94	0.0213	36	c.273 others(55): Show c.2736-4500_2736-4465dupCCTTCCTCCCTCCCTTCCTTCCCTCC CTCCTCCTTC	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	27/32			chr7	TogoVar
DGKQ_chr4_953887_978569	956067	G G	GGCGGCCC others(29): Show GGCGGCCCCTCCCTTCCCGGCGGCCCCTCCCTTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG04184.hp2 HG04204.hp1 HG03239.hp1 HG04184.hp2 HG04204.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0014 a0003c0008t0014	a0003c0008t0014g0115 a0003c0008t0014g0116 a0003c0008t0014g0118 a0003c0008t0014g0115 a0003c0008t0014g0116 a0003c0008t0014g0118	3	438	0.0069	36	c.45 others(47): Show c.4552_*4553insTGGGAAGGGAGGGGCCGCCGGGAAGGGAGGGGCC GC	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding		2819		chr4	TogoVar
DGLUCY_chr14_91109073_91230632	91205754	C C	CTCTTCTT others(29): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0165 a0003c0003t0001g0165	1	216	0.0046	36	c.156 others(53): Show c.1564+936_1564+971dupTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHODH_chr16_72003744_72032659	72020331	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0157 a0001c0001t0010g0157	1	414	0.0024	36	c.518 others(51): Show c.518-770_518-769insATATATATATGTGTATATATATATATATAT ATATAT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHODH_chr16_72003744_72032659	72020333	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0162 a0001c0001t0038g0162	1	414	0.0024	36	c.518 others(51): Show c.518-770_518-769insATATATATATATGTGTATATATATATATAT ATATAT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHODH_chr16_72003744_72032659	72020337	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0156 a0001c0001t0010g0156	1	414	0.0024	36	c.518 others(51): Show c.518-770_518-769insATATATATATATGTGTGTGTATATATATAT ATATAT	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHRS4L2_chr14_23983929_24011403	24001957	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	32	0.0313	36	c.665 others(51): Show c.665+456_665+457insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DHRS4L2	ENSG00000187630.18	transcript	ENST00000335125.11	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRS9_chr2_169064563_169101167	169073765	T T	TGAGGCCA others(29): Show TGAGGCCATTAAAAAAAGAAACTCATCAATGTGATAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	398	0.0025	36	c.-60 others(53): Show c.-60+4049_-60+4084dupGAGGCCATTAAAAAAAGAAACTCATCAA TGTGATAC	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2228018	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0018 a0003c0003t0002g0018	1	50	0.0200	36	c.805 others(53): Show c.805-6790_805-6789insTCCCCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2228046	G G	GAGGGAGG others(29): Show GAGGGAGGGGGGAAGGGAGGGAGGGAGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02293.hp2 HG01496.hp1 HG02293.hp2	a0003 a0003	a0003c0003 a0003c0016 a0003c0003 a0003c0016	a0003c0003t0002 a0003c0016t0002 a0003c0003t0002 a0003c0016t0002	a0003c0003t0002g0014 a0003c0016t0002g0040 a0003c0003t0002g0014 a0003c0016t0002g0040	2	50	0.0400	36	c.805 others(53): Show c.805-6818_805-6817insTCCCCCCTCCCTCCCTCCCTCCCTTCCC CCCTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314415	A A	AAGGAAGG others(29): Show AAGGAAGGGGAGAAGGGAGGAAGGAAGGGGAGAAGGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0015 a0006c0013t0015	a0006c0013t0015g0011 a0006c0013t0015g0011	1	50	0.0200	36	c.287 others(55): Show c.287-22813_287-22812insCCCTTCTCCCCTTCCTTCCTCCCTTC TCCCCTTCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314469	A A	AGAAGGGA others(29): Show AGAAGGGAGGAAGGAAGGGGAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	50	0.0200	36	c.287 others(55): Show c.287-22867_287-22866insCTTCCTTCCTTCCTTCTCCCCTTCCT TCCTCCCTTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHX33_chr17_5435917_5473982	5459940	C C	CCTGGCCA others(29): Show CCTGGCCAGAAGCAGTGTTTCATAGACCTATTTCAGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02818.hp2 others(4): Show HG02257.hp1 HG02451.hp2 HG02818.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0028 others(3): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0028 a0001c0001t0032 a0001c0001t0037 a0001c0001t0058	a0001c0001t0003g0051 a0001c0001t0013g0048 a0001c0001t0013g0049 others(4): Show a0001c0001t0003g0051 a0001c0001t0013g0048 a0001c0001t0013g0049 a0001c0001t0028g0047 a0001c0001t0032g0050 a0001c0001t0037g0157 a0001c0001t0058g0052	7	366	0.0191	36	c.849 others(51): Show c.849+963_849+998dupACTGAAATAGGTCTATGAAACACTGCTTCT GGCCAG	DHX33	ENSG00000005100.13	transcript	ENST00000225296.8	protein_coding	4/11			chr17	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	336	0.0030	36	c.118 others(53): Show c.118-3463_118-3462insAATATATATAAATATATATATATATATA TATATATA	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp1 HG03942.hp1 others(1): Show HG00621.hp1 HG01081.hp1 HG03942.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0048 a0001c0001t0001g0133 a0001c0001t0002g0032 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0133 a0001c0001t0002g0032 a0001c0001t0008g0041	4	147	0.0272	36	c.132 others(53): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185413	A A	ATATATAT others(29): Show ATATATATGTATATATATATGTGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	147	0.0068	36	c.271 others(57): Show c.2719+43626_2719+43627insGTATATATATATGTGTATATATAT ATATGTATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185425	A A	ATATATAT others(29): Show ATATATATATGTGTATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	147	0.0068	36	c.271 others(57): Show c.2719+43656_2719+43657insATATATATATGTATATATATGTGT ATATATATATGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185427	A A	ATATATAT others(29): Show ATATATATGTGTATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp2 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0026 a0001c0001t0001g0035	2	147	0.0136	36	c.271 others(57): Show c.2719+43654_2719+43655insATGTATATATATATGTATATATGT GTATATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185439	A A	ATATATAT others(29): Show ATATATATATATGTATATATATATGTATATATATGTG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	147	0.0068	36	c.271 others(57): Show c.2719+43654_2719+43655insATGTATATATATATGTATATATAT GTGTATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97187281	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0076 a0001c0002t0021g0076	1	147	0.0068	36	c.271 others(57): Show c.2719+45510_2719+45511insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97349006	G G	GTGTGTAT others(29): Show GTGTGTATATATATGTGTATATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG01081.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0139 a0001c0001t0018g0083 a0001c0001t0002g0139 a0001c0001t0018g0083	2	147	0.0136	36	c.300 others(53): Show c.3009+755_3009+756insATATATATGTGTATATATATGTGTATAT ATATGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	24/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0037 a0002c0003t0002g0037	1	208	0.0048	36	c.180 others(53): Show c.180+6647_180+6648insAAAAAAAAAATATATATATATATATATA TATATATA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar

Search by Variant

Search

Search Results (Total: 8848 hits)