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
CTNS_chr17_3631760_3668103	3635236	A A	AGGAAGGA others(39): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01433.hp1 NA21309.hp2 HG00408.hp2 HG01433.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0021 a0002c0002t0007 a0002c0002t0073 a0001c0001t0021 a0002c0002t0007 a0002c0002t0073	a0001c0001t0021g0252 a0002c0002t0007g0033 a0002c0002t0073g0034 a0001c0001t0021g0252 a0002c0002t0007g0033 a0002c0002t0073g0034	3	372	0.0081	46	c.-18 others(57): Show c.-1825_-1824insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGG GAAGGAAGGAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1523		chr17	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(39): Show TGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02965.hp1 HG03490.hp2 others(2): Show HG02071.hp2 HG02965.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0130 a0001c0001t0001g0211	5	434	0.0115	46	c.24 others(57): Show c.2436_*2437insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTSD_chr11_1747755_1768927	1765170	G G	GTATATAT others(39): Show GTATATATATACATGTATATGTGTATATATATACATGTATATGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	386	0.0026	46	c.-13 others(57): Show c.-1312_-1311insTACACATATACATGTATATATATACACATATACA TGTATATATATA	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		1244		chr11	TogoVar
CUL1_chr7_148693903_148806110	148725219	G G	GCGCGCAC others(39): Show GCGCGCACGCGCGCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	338	0.0030	46	c.-16 others(65): Show c.-161-4742_-161-4741insGCGCACGCGCGCACACACACACACAC ACACACACACACACACACAC	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX2_chr12_111029165_111355554	111328972	T T	TCTCTCTC others(39): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20129.hp1 HG03209.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0082 a0001c0008t0001g0003 a0001c0001t0001g0082 a0001c0008t0001g0003	2	100	0.0200	46	c.292 others(65): Show c.2927-5466_2927-5465insTCTCTCTCTCTCTCTCTCTCTCTCCC CCTCTCTCCCTCTCTCCCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CWC27_chr5_64763930_65023750	64799602	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0008 a0002c0006t0002g0008	1	260	0.0039	46	c.670 others(61): Show c.670-646_670-645insTATATATATATATATATATATATATATATA TATATATATATATATG	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13			chr5	TogoVar
CWH43_chr4_48981275_49067079	49039320	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATACTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18940.hp1 HG01192.hp2 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0105 a0002c0002t0001g0060 a0002c0002t0001g0105	2	296	0.0068	46	c.180 others(65): Show c.1803+1153_1803+1154insTATATATATATATATATATATATATA TATACTGATATATATATATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYFIP1_chr15_22862052_22985368	22875885	C C	CATACATA others(39): Show CATACATACATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0005	a0002c0008t0005g0304 a0002c0008t0005g0304	1	342	0.0029	46	c.304 others(63): Show c.3043-615_3043-614insATATATATATATATATATATATATATAT ATATATATATGTATGTAT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	26/30			chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22963496	T T	TAACATAA others(39): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	342	0.0029	46	c.-6- others(63): Show c.-6-16251_-6-16206dupTATGTTATGTTATGTTATGTTATGTTAT GTTATGTTATGTTATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYP26B1_chr2_72124238_72152862	72144520	G G	GCCCCCAC others(39): Show GCCCCCACCCCCACCCCCACACCCCCACCCCCACCCCCACCCCCACA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp1 HG02895.hp1 others(2): Show HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0022 a0001c0001t0039 a0001c0001t0021 a0001c0001t0022 a0001c0001t0039	a0001c0001t0021g0132 a0001c0001t0021g0133 a0001c0001t0022g0039 others(1): Show a0001c0001t0021g0132 a0001c0001t0021g0133 a0001c0001t0022g0039 a0001c0001t0039g0131	5	312	0.0160	46	c.205 others(61): Show c.205-308_205-307insTGTGGGGGTGGGGGTGGGGGTGGGGGTGTG GGGGTGGGGGTGGGGG	CYP26B1	ENSG00000003137.9	transcript	ENST00000001146.7	protein_coding	1/5			chr2	TogoVar
CYP2C9_chr10_94933658_94995091	94934656	A A	ATATATGT others(39): Show ATATATGTATATATATATATATATATACGTGTGTGTATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00621.hp2 others(50): Show HG00423.hp2 HG00438.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp2 HG01071.hp1 HG01192.hp2 HG01496.hp2 HG02027.hp2 HG02040.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02698.hp2 HG03654.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19080.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0009 others(39): Show a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0020 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0133	53	374	0.1417	46	c.-40 others(57): Show c.-4027_-4026insTATATGTATATATATATATATATATACGTGTGTG TATATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4001		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934656	A A	ATATATGT others(39): Show ATATATGTATATATGTATATATATATACGTGTGTGTATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	374	0.0027	46	c.-40 others(57): Show c.-4027_-4026insTATATGTATATATGTATATATATATACGTGTGTG TATATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4001		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934656	A A	ATATATGT others(39): Show ATATATGTGTATATATATATATATATACGTGTGTGTATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	374	0.0027	46	c.-40 others(57): Show c.-4027_-4026insTATATGTGTATATATATATATATATACGTGTGTG TATATATATATG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		4001		chr10	TogoVar
CYP2C9_chr10_94933658_94995091	94934658	A A	ATATGTAT others(39): Show ATATGTATATATATATATATATATACGTGTGTGTATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	374	0.0027	46	c.-40 others(57): Show c.-4025_-4024insTATGTATATATATATATATATATACGTGTGTGTA TATATATATGTG	CYP2C9	ENSG00000138109.11	transcript	ENST00000260682.8	protein_coding		3999		chr10	TogoVar
CYP2E1_chr10_133522363_133544123	133528217	A A	AGTCCGCG others(39): Show AGTCCGCGGAGTTGCCGCGGAGTTGTCCGCGGAGTTGCCGCGGAGTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG06807.hp2 HG02258.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0105 a0001c0002t0001g0106	2	414	0.0048	46	c.178 others(61): Show c.178-230_178-229insTGCCGCGGAGTTGTCCGCGGAGTTGCCGCG GAGTTGTCCGCGGAGT	CYP2E1	ENSG00000130649.10	transcript	ENST00000252945.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATACATA others(39): Show CATACATACATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0108 a0001c0001t0006g0108	1	382	0.0026	46	c.491 others(61): Show c.491-128_491-127insCATACATACATATATATATATATATATATA TATATATATATATATA	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	382	0.0026	46	c.491 others(61): Show c.491-119_491-118insATATATATATATATATATATATATATATAT ATATATATATATATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP4F3_chr19_15635897_15667825	15650799	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTCTCTCTTCTT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	424	0.0024	46	c.918 others(61): Show c.918+617_918+618insTTCTTTCTTTCTTTCTTCTTTCTTTCTTTC TTTCTCTCTCTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP7B1_chr8_64585851_64803737	64643088	T T	TGTATATA others(39): Show TGTATATATATACACATATATATACATATATATACACATATATATAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02818.hp2 HG02976.hp1 others(2): Show HG02027.hp2 HG02818.hp2 HG02976.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010	a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0008g0069 others(2): Show a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0008g0069 a0001c0001t0008g0071 a0001c0001t0010g0240	5	258	0.0194	46	c.123 others(65): Show c.123-18550_123-18549insGTATATATATGTGTATATATATGTAT ATATATGTGTATATATATAC	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03017.hp2 NA19011.hp1 HG02056.hp1 HG03017.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0051 a0001c0001t0001g0171 a0001c0001t0029g0288 a0001c0001t0001g0051 a0001c0001t0001g0171 a0001c0001t0029g0288	3	288	0.0104	46	c.-13 others(67): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATATATATATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
DACH2_chrX_86143451_86837602	86411020	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	166	0.0060	46	c.527 others(65): Show c.527+34177_527+34178insATATATATATATATATATATATATAT ATATATATATATATATATAT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546394	T T	TCTTCTTC others(39): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	166	0.0060	46	c.640 others(65): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCTTCTTCCTCTT CTTCTTCTTCCTTCTTCTTC	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(39): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCCTTCTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	166	0.0060	46	c.640 others(65): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCCTTCTTCTTCCTTCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11			chrX	TogoVar
DACH2_chrX_86143451_86837602	86705063	A A	ATATATCT others(39): Show ATATATCTCACATATATATATATATATATCTCACATATATATATATC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	166	0.0060	46	c.932 others(63): Show c.932-9482_932-9481insATCTCACATATATATATATATATATCTC ACATATATATATATCTAT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT2_chr6_168301904_168324777	168311596	A A	ACTCACAC others(39): Show ACTCACACCCATACACACACACTCACACACAAACACACACACCCATC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19056.hp2 NA19004.hp1 NA19056.hp2	a0001 a0022 a0001 a0022	a0001c0001 a0022c0023 a0001c0001 a0022c0023	a0001c0001t0001 a0022c0023t0001 a0001c0001t0001 a0022c0023t0001	a0001c0001t0001g0243 a0022c0023t0001g0218 a0001c0001t0001g0243 a0022c0023t0001g0218	2	476	0.0042	46	c.247 others(61): Show c.247-313_247-312insGATGGGTGTGTGTGTTTGTGTGTGAGTGTG TGTGTATGGGTGTGAG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DAGLB_chr7_6404129_6452954	6406473	A A	AATTCTAG others(39): Show AATTCTAGGTTGGTGTGAACATCCCTTTTAAGTTATATTTTTGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	380	0.0026	46	c.33 others(57): Show c.3363_*3364insGTCCCAAAAATATAACTTAAAAGGGATGTTCACA CCAACCTAGAAT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding		2655		chr7	TogoVar
DAPK2_chr15_63902036_64051485	64036309	G G	GTATATAT others(39): Show GTATATATATGTATATATATATATATGTATATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA20752.hp1 HG01934.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0158 a0001c0001t0001g0119 a0001c0001t0001g0158	2	214	0.0094	46	c.92+ others(61): Show c.92+3860_92+3861insTATATATGTATATATATATACATATATATA TATATACATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036321	A A	ATATATAT others(39): Show ATATATATATATATGTATATATATATACATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	214	0.0047	46	c.92+ others(61): Show c.92+3848_92+3849insCACATATATATATATATATGTATATATATA TACATATATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DCC_chr18_52335197_53540899	52907307	C C	CATATGTA others(39): Show CATATGTATATGTATATGTATATATCCATATGGATATATACATATGT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18966.hp2 HG02080.hp2 NA18966.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0078 a0002c0001t0005g0088 a0002c0001t0005g0078 a0002c0001t0005g0088	2	114	0.0175	46	c.697 others(61): Show c.697+995_697+996insGTATATATCCATATGGATATATACATATGT ATATGTATATGTATAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53300985	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19057.hp1 NA19065.hp2 NA18979.hp2 NA19057.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0034 a0001c0002t0005 a0001c0002t0034	a0001c0002t0005g0028 a0001c0002t0005g0050 a0001c0002t0034g0091 a0001c0002t0005g0028 a0001c0002t0005g0050 a0001c0002t0034g0091	3	114	0.0263	46	c.191 others(65): Show c.1912-4586_1912-4585insCTTTCTTTCTTTCTTTCTTTCCTTTC TTTCTTTCTTTCTTTTCTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACACATA others(39): Show CACACATATACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0046 a0004c0009t0001g0046	1	152	0.0066	46	c.105 others(65): Show c.1055-8800_1055-8799insATATATATATATATATATATATATAT ATATATATATGTATATGTGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACATATA others(39): Show CACATATACATATACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0124 a0001c0006t0010g0124	1	152	0.0066	46	c.105 others(65): Show c.1055-8800_1055-8799insATATATATATATATATATATATATAT ATATATGTATATGTATATGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCDC1_chr11_30858603_31374739	31250421	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	152	0.0066	46	c.105 others(65): Show c.1055-8806_1055-8805insATATGTATATATATATATATATATAT ATATATATATATATATATAT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCLK1_chr13_35763652_36136382	35826532	A A	AGGAAGGA others(39): Show AGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0140 a0001c0005t0025g0140	1	230	0.0044	46	c.140 others(65): Show c.1407+1102_1407+1103insCCTTCCTTCCTTCCTTCCTTCCTCCC TTCCTTCCTTCCTTCCTTCC	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	10/16			chr13	TogoVar
DCUN1D2_chr13_113450819_113495711	113473062	G G	GCCTCTGT others(39): Show GCCTCTGTCCCCCGTCTCTCTATCCCTCTGTCTCCTGTGCCTCTGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0161 a0001c0001t0020g0161	1	364	0.0028	46	c.520 others(63): Show c.520+1016_520+1061dupGACAGAGGCACAGGAGACAGAGGGATAG AGAGACGGGGGACAGAGG	DCUN1D2	ENSG00000150401.15	transcript	ENST00000478244.6	protein_coding	4/6			chr13	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0106 a0001c0001t0070g0106	1	318	0.0031	46	c.12 others(59): Show c.12593_*12594insTATATATATATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0168 a0001c0001t0052g0168	1	318	0.0031	46	c.12 others(59): Show c.12593_*12594insTATATATATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049791	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATACATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0009 a0001c0001t0014g0009	1	318	0.0031	46	c.12 others(59): Show c.12567_*12568insAAAAAAAAAAAATATGTATATATATATATATA TATATATATATATA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		894		chr11	TogoVar
DDX28_chr16_68015916_68028232	68020785	G G	GTATATAT others(39): Show GTATATATATATATACATATATATATATACGTATATATATGTATGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	390	0.0051	46	c.79 others(55): Show c.794_*795insTACATACATATATATACGTATATATATATATGTATA TATATATATA	DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding		130		chr16	TogoVar
DDX31_chr9_132587997_132674983	132632239	T T	TACACACA others(39): Show TACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	402	0.0025	46	c.144 others(63): Show c.1441-149_1441-148insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632252	A A	ACACACAC others(39): Show ACACACACACACACACACACACACACACACACACACACACAGTCCTG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	402	0.0025	46	c.144 others(63): Show c.1441-162_1441-161insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTG	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632254	A A	ACACACAC others(39): Show ACACACACACACACACACACACACACACACACACACACACAGTCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG00639.hp1 HG01361.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0001 a0001c0001t0001 a0008c0010t0001	a0001c0001t0001g0266 a0008c0010t0001g0236 a0001c0001t0001g0266 a0008c0010t0001g0236	2	402	0.0050	46	c.144 others(63): Show c.1441-164_1441-163insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTG	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632256	A A	ACACACAC others(39): Show ACACACACACACACACACACACACACACACACACACACACAGTCCTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	402	0.0025	46	c.144 others(63): Show c.1441-166_1441-165insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTG	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DEAF1_chr11_639233_700222	690317	A A	AGGGCAGG others(39): Show AGGGCAGGGGAGGGGAGGGGAGGGGAGGGCAGGGCAGGGGAGGGCAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0144 a0001c0003t0001g0144	1	345	0.0029	46	c.387 others(63): Show c.387+1183_387+1184insCTGCCCTCCCCTGCCCTGCCCTCCCCTC CCCTCCCCTCCCCTGCCC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEFB124_chr20_31460471_31480127	31466606	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0056 a0002c0003t0002g0056	1	362	0.0028	46	c.59- others(59): Show c.59-944_59-943insATATATATATATATATATATATATATATATAT ATATATATATATAT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DENND1A_chr9_123374658_123935126	123495141	T T	TTCTCTCT others(39): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	162	0.0062	46	c.994 others(65): Show c.994-37245_994-37244insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711486	A A	AAAATATA others(39): Show AAAATATATATATATATGTATATATGTATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0090 a0001c0002t0017g0090	1	162	0.0062	46	c.303 others(65): Show c.303-34698_303-34697insACATATATATATATATATATACATAT ATACATATATATATATATTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711522	T T	TATATATA others(39): Show TATATATATATGTATATATGTATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02258.hp1 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0015 a0001c0006 a0002c0015	a0001c0006t0011 a0002c0015t0011 a0001c0006t0011 a0002c0015t0011	a0001c0006t0011g0162 a0002c0015t0011g0161 a0001c0006t0011g0162 a0002c0015t0011g0161	2	162	0.0124	46	c.303 others(65): Show c.303-34734_303-34733insGTATATATATATATATATATATATAT ACATATATACATATATATAT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND2B_chr11_8688352_8815674	8771566	A A	AGAGAGAG others(39): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0007 a0003c0002t0001g0007	1	352	0.0028	46	c.-25 others(65): Show c.-25-20842_-25-20841insGCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTC	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding	1/19			chr11	TogoVar
DENND2B_chr11_8688352_8815674	8810806	G G	GTCTCTCT others(39): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0004 a0011c0014t0004	a0011c0014t0004g0222 a0011c0014t0004g0222	1	352	0.0028	46	c.-31 others(55): Show c.-316_-315insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	DENND2B	ENSG00000166444.19	transcript	ENST00000313726.11	protein_coding		133		chr11	TogoVar

Search by Variant

Search

Search Results (Total: 3221 hits)