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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CCDC47_chr17_63740255_63778597	63771041	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG02970.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0233 a0001c0002t0003g0234	2	352	0.0057	32	c.-20 others(49): Show c.-20+2370_-20+2371insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	1/12			chr17	TogoVar
CCDC47_chr17_63740255_63778597	63771045	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	352	0.0028	32	c.-20 others(49): Show c.-20+2366_-20+2367insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	1/12			chr17	TogoVar
CCDC47_chr17_63740255_63778597	63771045	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp2 NA19000.hp1 others(2): Show HG03704.hp1 HG03704.hp2 NA19000.hp1 NA19056.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0058 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	5	352	0.0142	32	c.-20 others(49): Show c.-20+2366_-20+2367insTCTTTCTTTCTTCCTTCCTTCCTTCCTT CCTT	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	1/12			chr17	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGGG others(25): Show GGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0039 a0002c0002t0002g0039	1	372	0.0027	32	c.-40 others(41): Show c.-401_-400insGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGGG others(25): Show GGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	372	0.0027	32	c.-40 others(41): Show c.-401_-400insGGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGGGTG others(25): Show GGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG04204.hp2 HG01261.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0176 a0002c0002t0002g0043 a0001c0001t0001g0176 a0002c0002t0002g0043	2	372	0.0054	32	c.-40 others(41): Show c.-401_-400insGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56556842	G G	GGGGTGTG others(25): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00438.hp2 HG00558.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0113 a0002c0002t0002g0280 a0001c0001t0001g0113 a0002c0002t0002g0280	2	372	0.0054	32	c.-40 others(41): Show c.-401_-400insGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding		332		chr3	TogoVar
CCDC66_chr3_56552175_56626837	56596483	G G	GATATTCA others(25): Show GATATTCAAACTACTGAATATGCAAGCTATTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02080.hp2 HG02129.hp2 others(9): Show HG00408.hp1 HG02080.hp2 HG02129.hp2 HG02683.hp2 HG02922.hp2 HG03017.hp2 HG03239.hp2 HG04228.hp1 NA18946.hp1 NA18998.hp2 NA19054.hp2 NA20905.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0021 a0001c0005t0003g0101 a0001c0005t0003g0206 others(8): Show a0001c0005t0003g0021 a0001c0005t0003g0101 a0001c0005t0003g0206 a0001c0005t0003g0207 a0001c0005t0003g0208 a0001c0005t0003g0209 a0001c0005t0003g0210 a0001c0005t0003g0211 a0001c0005t0003g0212 a0001c0005t0003g0213 a0001c0005t0003g0214	12	372	0.0323	32	c.140 others(51): Show c.1404+2476_1404+2507dupGCAAGCTATTGAATATTCAAACTACT GAATAT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC66_chr3_56552175_56626837	56597777	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18949.hp2 NA19043.hp1 HG04199.hp2 NA18949.hp2 NA19043.hp1	a0002 a0004 a0012 a0002 a0004 a0012	a0002c0002 a0004c0011 a0012c0022 a0002c0002 a0004c0011 a0012c0022	a0002c0002t0005 a0004c0011t0003 a0012c0022t0002 a0002c0002t0005 a0004c0011t0003 a0012c0022t0002	a0002c0002t0005g0277 a0004c0011t0003g0234 a0012c0022t0002g0254 a0002c0002t0005g0277 a0004c0011t0003g0234 a0012c0022t0002g0254	3	372	0.0081	32	c.140 others(51): Show c.1404+3764_1404+3765insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC68_chr18_54896509_54964461	54905409	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01081.hp2 others(25): Show HG00099.hp1 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG02257.hp1 HG02300.hp2 HG02451.hp1 HG02602.hp1 HG02683.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03688.hp1 HG03834.hp2 HG04199.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0026 a0001c0001t0032 a0001c0003t0022	a0001c0001t0001g0241 a0001c0001t0004g0001 a0001c0001t0004g0233 others(23): Show a0001c0001t0001g0241 a0001c0001t0004g0001 a0001c0001t0004g0233 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0056 a0001c0001t0005g0068 a0001c0001t0005g0074 a0001c0001t0005g0091 a0001c0001t0005g0093 a0001c0001t0005g0097 a0001c0001t0005g0098 a0001c0001t0007g0064 a0001c0001t0007g0083 a0001c0001t0012g0023 a0001c0001t0012g0026 a0001c0001t0012g0027 a0001c0001t0012g0038 a0001c0001t0026g0017 a0001c0001t0032g0121 a0001c0003t0022g0082 a0001c0003t0022g0101	28	326	0.0859	32	c.951 others(47): Show c.951-995_951-994insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	CCDC68	ENSG00000166510.14	transcript	ENST00000591504.6	protein_coding	11/11			chr18	TogoVar
CCDC68_chr18_54896509_54964461	54950788	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA19057.hp2 NA21309.hp2 HG03239.hp2 NA19057.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015	a0001c0001t0002g0177 a0001c0001t0003g0184 a0001c0001t0015g0207 a0001c0001t0002g0177 a0001c0001t0003g0184 a0001c0001t0015g0207	3	326	0.0092	32	c.-10 others(51): Show c.-102-5312_-102-5311insTATATATATATATATATATATATATA TATATA	CCDC68	ENSG00000166510.14	transcript	ENST00000591504.6	protein_coding	1/11			chr18	TogoVar
CCDC68_chr18_54896509_54964461	54950788	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0105 a0001c0001t0028g0105	1	326	0.0031	32	c.-10 others(51): Show c.-102-5312_-102-5311insTATATATATATATATATATATATATA TATACA	CCDC68	ENSG00000166510.14	transcript	ENST00000591504.6	protein_coding	1/11			chr18	TogoVar
CCDC6_chr10_59783747_59911556	59862501	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01943.hp1 HG01361.hp1 HG01943.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0006 a0003c0008t0002g0007 a0003c0008t0002g0006 a0003c0008t0002g0007	2	288	0.0069	32	c.304 others(49): Show c.304-9800_304-9799insTATATATATATATATATATATATATATA TATA	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC7_chr10_32441140_32887864	32830121	G G	GATATATA others(25): Show GATATATATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01943.hp1 HG02027.hp2 others(7): Show HG00558.hp2 HG01943.hp1 HG02027.hp2 HG02135.hp2 HG02293.hp1 HG03017.hp2 NA18971.hp2 NA18982.hp1 NA19068.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0172 a0001c0002t0001g0181 others(7): Show a0001c0002t0001g0163 a0001c0002t0001g0172 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0187 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0198 a0001c0002t0001g0199	10	368	0.0272	32	c.326 others(51): Show c.3269-4683_3269-4682insCATATATATATATATATATATATATA TATATA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32830121	G G	GATATATA others(25): Show GATATATATATATATATATATATATAGATATAT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19083.hp2 NA19077.hp2 NA19083.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0067 a0003c0004t0001g0100 a0003c0004t0001g0067 a0003c0004t0001g0100	2	368	0.0054	32	c.326 others(51): Show c.3269-4674_3269-4673insATATAGATATATATATATATATATAT ATATAT	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32830121	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02004.hp1 NA19002.hp1 others(1): Show HG00423.hp2 HG02004.hp1 NA19002.hp1 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0200 a0003c0004t0001g0071 a0003c0004t0001g0090 others(1): Show a0001c0001t0001g0200 a0003c0004t0001g0071 a0003c0004t0001g0090 a0003c0004t0001g0092	4	368	0.0109	32	c.326 others(51): Show c.3269-4674_3269-4673insATATATATATATATATATATATATAT ATATAT	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32830130	A A	ATACATAT others(25): Show ATACATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	368	0.0027	32	c.326 others(51): Show c.3269-4683_3269-4682insCATATATATATATATATATATATATA TATGTA	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC82_chr11_96347773_96394912	96372714	A A	ATATATTT others(25): Show ATATATTTATATATATAAATATATAAATATACG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	382	0.0026	32	c.108 others(49): Show c.1084+629_1084+660dupCGTATATTTATATATTTATATATATAAA TATA	CCDC82	ENSG00000149231.16	transcript	ENST00000646818.2	protein_coding	6/9			chr11	TogoVar
CCDC83_chr11_85850383_85925013	85917192	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	334	0.0030	32	c.108 others(49): Show c.1080+960_1080+961insAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAA	CCDC83	ENSG00000150676.13	transcript	ENST00000342404.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC83_chr11_85850383_85925013	85917192	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	334	0.0030	32	c.108 others(49): Show c.1080+960_1080+961insAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAAA	CCDC83	ENSG00000150676.13	transcript	ENST00000342404.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC83_chr11_85850383_85925013	85917192	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAGGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	334	0.0030	32	c.108 others(49): Show c.1080+960_1080+961insAAGAAAGAAAGAAAGAAAGAAGGAGAAA GAAA	CCDC83	ENSG00000150676.13	transcript	ENST00000342404.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCDC88A_chr2_55282842_55424856	55367528	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG01891.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0197 a0001c0001t0015g0198 a0001c0001t0015g0197 a0001c0001t0015g0198	2	316	0.0063	32	c.403 others(49): Show c.403-3496_403-3495insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	5/32			chr2	TogoVar
CCDC88B_chr11_64335204_64362534	64336083	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 NA18965.hp1 HG04115.hp2 NA18965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0016 a0003c0003t0001g0025 a0003c0003t0001g0016 a0003c0003t0001g0025	2	400	0.0050	32	c.-41 others(43): Show c.-4184_-4183insATATATATATATATATATATATATATATATAT	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding		4120		chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64336087	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG03831.hp2 others(1): Show HG00323.hp1 HG00609.hp2 HG03831.hp2 NA19064.hp2	a0001 a0008 a0009 others(1): Show a0001 a0008 a0009 a0012	a0001c0001 a0008c0013 a0009c0014 others(1): Show a0001c0001 a0008c0013 a0009c0014 a0012c0021	a0001c0001t0001 a0008c0013t0001 a0009c0014t0001 others(1): Show a0001c0001t0001 a0008c0013t0001 a0009c0014t0001 a0012c0021t0001	a0001c0001t0001g0007 a0008c0013t0001g0016 a0009c0014t0001g0038 others(1): Show a0001c0001t0001g0007 a0008c0013t0001g0016 a0009c0014t0001g0038 a0012c0021t0001g0003	4	400	0.0100	32	c.-41 others(43): Show c.-4180_-4179insATATATATATATATATATATATATATATATAT	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding		4116		chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64336089	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG02559.hp1 HG01256.hp2 HG02559.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0043 a0001c0001 a0021c0043	a0001c0001t0001 a0021c0043t0001 a0001c0001t0001 a0021c0043t0001	a0001c0001t0001g0019 a0021c0043t0001g0016 a0001c0001t0001g0019 a0021c0043t0001g0016	2	400	0.0050	32	c.-41 others(43): Show c.-4178_-4177insATATATATATATATATATATATATATATATAT	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding		4114		chr11	TogoVar
CCDC88B_chr11_64335204_64362534	64336091	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 NA18974.hp2 NA20752.hp1 HG01891.hp1 NA18974.hp2 NA20752.hp1	a0007 a0012 a0014 a0007 a0012 a0014	a0007c0018 a0012c0021 a0014c0025 a0007c0018 a0012c0021 a0014c0025	a0007c0018t0001 a0012c0021t0001 a0014c0025t0001 a0007c0018t0001 a0012c0021t0001 a0014c0025t0001	a0007c0018t0001g0051 a0012c0021t0001g0003 a0014c0025t0001g0054 a0007c0018t0001g0051 a0012c0021t0001g0003 a0014c0025t0001g0054	3	400	0.0075	32	c.-41 others(43): Show c.-4176_-4175insATATATATATATATATATATATATATATATAT	CCDC88B	ENSG00000168071.22	transcript	ENST00000356786.10	protein_coding		4112		chr11	TogoVar
CCDC88C_chr14_91266323_91422820	91293462	C C	CTGCCCCC others(25): Show CTGCCCCCTCGCCTGCCACGGCCCACCTTCCTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0007 a0007	a0007c0052 a0007c0052	a0007c0052t0011 a0007c0052t0011	a0007c0052t0011g0166 a0007c0052t0011g0166	1	284	0.0035	32	c.411 others(49): Show c.4112+710_4112+711insCAGGAAGGTGGGCCGTGGCAGGCGAGGG GGCA	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91401236	T T	TTATATAT others(25): Show TTATATATTATATATTATATAATATATACATTA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01978.hp1 HG01993.hp1 others(10): Show HG01433.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02148.hp1 HG02559.hp1 HG02630.hp1 HG02970.hp1 NA18951.hp1 NA18973.hp2 NA19055.hp2 NA19076.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0020	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0002c0062 a0003c0003 a0003c0015 a0004c0008 a0020c0041	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(5): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0002c0062t0001 a0003c0003t0002 a0003c0015t0002 a0004c0008t0002 a0020c0041t0001	a0001c0001t0001g0190 a0001c0004t0001g0026 a0001c0006t0001g0189 others(10): Show a0001c0001t0001g0190 a0001c0004t0001g0026 a0001c0006t0001g0189 a0001c0006t0001g0191 a0001c0006t0001g0236 a0002c0062t0001g0266 a0003c0003t0002g0119 a0003c0003t0002g0178 a0003c0003t0002g0188 a0003c0015t0002g0216 a0004c0008t0002g0114 a0004c0008t0002g0115 a0020c0041t0001g0179	13	284	0.0458	32	c.270 others(49): Show c.270+7391_270+7422dupTAATGTATATATTATATAATATATAATA TATA	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	3/29			chr14	TogoVar
CCDC91_chr12_28185456_28555166	28362280	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0238 a0003c0003t0001g0238	1	242	0.0041	32	c.577 others(47): Show c.577-143_577-142insATATATATATATATATATATATATATATAT AT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28394711	G G	GCTCTCTC others(25): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18948.hp1 NA19087.hp1 HG01517.hp1 NA18948.hp1 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0209 a0003c0003t0001g0223 a0003c0003t0001g0236 a0003c0003t0001g0209 a0003c0003t0001g0223 a0003c0003t0001g0236	3	242	0.0124	32	c.762 others(49): Show c.762+3321_762+3322insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC91_chr12_28185456_28555166	28510236	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0228 a0003c0003t0001g0228	1	242	0.0041	32	c.121 others(53): Show c.1215+26071_1215+26072insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	CCDC91	ENSG00000123106.11	transcript	ENST00000536442.6	protein_coding	12/12			chr12	TogoVar
CCDC92B_chr17_2715801_2754652	2717043	T T	TCCACCTC others(25): Show TCCACCTCCCTCAACCCCAAAACTGCATGGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0365 a0001c0001t0004g0365	1	418	0.0024	32	c.73 others(43): Show c.7367_*7368insTGCCCATGCAGTTTTGGGGTTGAGGGAGGTGG	CCDC92B	ENSG00000277200.2	transcript	ENST00000614400.2	protein_coding		3757		chr17	TogoVar
CCL4_chr17_36098827_36110614	36101028	G G	GACATATA others(25): Show GACATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03491.hp1 HG03927.hp1 HG02486.hp1 HG03491.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0003 a0001c0001t0001g0013	3	413	0.0073	32	c.-28 others(43): Show c.-2878_-2877insACATATATATATATATATATATATATATATAT	CCL4	ENSG00000275302.2	transcript	ENST00000615863.2	protein_coding		2798		chr17	TogoVar
CCN4_chr8_133186039_133236690	133186887	C C	CACCTGCT others(25): Show CACCTGCTCCCCCCCCCTCGGCCTCATCTGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	396	0.0025	32	c.-42 others(43): Show c.-4258_-4257insACCTGCTCCCCCCCCCTCGGCCTCATCTGCGG	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding		4151		chr8	TogoVar
CCN5_chr20_44710369_44732811	44728246	C C	CAATTAAT others(25): Show CAATTAATATGCGATCCACATCCTCCGGCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0002 a0007c0010t0002g0002	1	446	0.0022	32	c.93 others(41): Show c.939_*940insAATTAATATGCGATCCACATCCTCCGGCCCTT	CCN5	ENSG00000064205.11	transcript	ENST00000190983.5	protein_coding		436		chr20	TogoVar
CCNB1_chr5_69162150_69183245	69164026	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	420	0.0024	32	c.-32 others(43): Show c.-3237_-3236insAAAAAAAAAAATATATATATATATATATATAT	CCNB1	ENSG00000134057.15	transcript	ENST00000256442.10	protein_coding		3123		chr5	TogoVar
CCNB1_chr5_69162150_69183245	69175982	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18961.hp1 NA18993.hp2 others(1): Show HG03225.hp1 NA18961.hp1 NA18993.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0140 a0001c0001t0001g0034 a0001c0001t0001g0140	4	420	0.0095	32	c.108 others(49): Show c.1083+447_1083+478dupTATATATATATATATATATATATATATA TATA	CCNB1	ENSG00000134057.15	transcript	ENST00000256442.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCNI2_chr5_132742426_132759403	132742992	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCATCCCTCCTTTCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0007 a0003c0003t0009g0007	1	362	0.0028	32	c.-45 others(43): Show c.-4504_-4503insTCCCTCCCTCCATCCCTCCTTTCTTCCTTCCT	CCNI2	ENSG00000205089.8	transcript	ENST00000378731.6	protein_coding		4433		chr5	TogoVar
CCNJL_chr5_160244083_160317564	160282966	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18968.hp1 HG02273.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0093 a0001c0001t0039g0162 a0001c0001t0001g0093 a0001c0001t0039g0162	2	338	0.0059	32	c.67- others(47): Show c.67-2260_67-2229dupATATATATATATATATATATATATATATAT AT	CCNJL	ENSG00000135083.17	transcript	ENST00000257536.13	protein_coding	2/5			chr5	TogoVar
CCNJ_chr10_96038583_96065870	96040815	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	1	418	0.0024	32	c.-29 others(43): Show c.-2946_-2945insATATATATATATATATATATATATATATACAC	CCNJ	ENSG00000107443.16	transcript	ENST00000465148.3	protein_coding		2767		chr10	TogoVar
CCNL1_chr3_157142553_157165147	157145437	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	426	0.0024	32	c.28 others(43): Show c.2803_*2804insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CCNL1	ENSG00000163660.12	transcript	ENST00000295926.8	protein_coding		2115		chr3	TogoVar
CCNQ_chrX_153582925_153604139	153584577	A A	AAGGGAGG others(25): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03453.hp1 HG02723.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0003 a0001c0001t0001g0037	2	302	0.0066	32	c.37 others(43): Show c.3787_*3788insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		3347		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153584581	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	302	0.0033	32	c.37 others(43): Show c.3783_*3784insCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		3343		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153584581	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	302	0.0033	32	c.37 others(43): Show c.3783_*3784insCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		3343		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153584581	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	302	0.0033	32	c.37 others(43): Show c.3783_*3784insCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		3343		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153584581	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA18980.hp2 HG02257.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0084 a0001c0001t0001g0005 a0001c0001t0001g0084	2	302	0.0066	32	c.37 others(43): Show c.3783_*3784insCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		3343		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153584581	A A	AAGGAAGG others(25): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02280.hp1 HG02572.hp1 others(10): Show HG02074.hp1 HG02280.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02818.hp1 HG03017.hp1 HG03225.hp1 HG03704.hp2 NA18950.hp2 NA18991.hp2 NA19068.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074	13	302	0.0431	32	c.37 others(43): Show c.3783_*3784insCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		3343		chrX	TogoVar
CCNQ_chrX_153582925_153604139	153584581	A A	AAGGGAGG others(25): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02896.hp2 others(5): Show HG02615.hp1 HG02630.hp1 HG02896.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0088 a0001c0001t0001g0089	8	302	0.0265	32	c.37 others(43): Show c.3783_*3784insCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT	CCNQ	ENSG00000262919.8	transcript	ENST00000576892.8	protein_coding		3343		chrX	TogoVar
CCNT2_chr2_134913822_134964342	134928274	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0269 a0001c0001t0004g0269	1	404	0.0025	32	c.240 others(49): Show c.240+8402_240+8403insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CCNT2	ENSG00000082258.13	transcript	ENST00000264157.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCNT2_chr2_134913822_134964342	134929613	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01243.hp2 HG02071.hp2 others(12): Show HG01168.hp1 HG01243.hp2 HG02071.hp2 HG02109.hp1 HG02559.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG03195.hp2 HG03471.hp2 NA18943.hp2 NA18961.hp1 NA19043.hp1 NA19060.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018 a0003c0009t0004	a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0005g0309 others(12): Show a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0315 a0001c0001t0005g0317 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0329 a0001c0001t0007g0283 a0001c0001t0007g0286 a0001c0001t0007g0330 a0001c0001t0011g0249 a0001c0001t0018g0180 a0003c0009t0004g0245	15	404	0.0371	32	c.241 others(49): Show c.241-7205_241-7204insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	CCNT2	ENSG00000082258.13	transcript	ENST00000264157.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)