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
RIN3_chr14_92508781_92693994	92561044	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0252 a0006c0005t0001g0252	1	334	0.0030	32	c.249 others(49): Show c.249+5090_249+5091insAAAATATATATATATATATATATATATA TATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIOK3_chr18_23448287_23488140	23469304	C C	CCTCTCTC others(25): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG02896.hp1 others(1): Show HG02451.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 others(1): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0003g0239	4	402	0.0100	32	c.815 others(49): Show c.815+1780_815+1811dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
RIOX2_chr3_97936818_97977431	97946586	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0174 a0003c0003t0001g0174	1	370	0.0027	32	c.115 others(49): Show c.1150-700_1150-699insTATATATATATATATATATATATATATA TATA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding	8/9			chr3	TogoVar
RIPK1_chr6_3063494_3120187	3070717	C C	CGACCAAA others(25): Show CGACCAAAGTGCTGGGATTACAGGCATGAGATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02451.hp2 others(12): Show HG01891.hp1 HG02145.hp2 HG02451.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0022 a0001c0002t0025	a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0003g0334 others(12): Show a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0003g0334 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0011g0327 a0001c0001t0011g0328 a0001c0001t0012g0209 a0001c0001t0012g0330 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0228 a0001c0002t0022g0208 a0001c0002t0025g0045	15	340	0.0441	32	c.-61 others(49): Show c.-61+2056_-61+2057insGACCAAAGTGCTGGGATTACAGGCATGA GATA	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	1/10			chr6	TogoVar
RIPK1_chr6_3063494_3120187	3076699	C C	CATACATA others(25): Show CATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0120 a0001c0001t0009g0120	1	340	0.0029	32	c.-60 others(45): Show c.-60-62_-60-61insCATATATATATATATATATATATATATATATA	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3076699	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18977.hp2 HG02486.hp1 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0135 a0001c0002t0004g0205 a0001c0002t0002g0135 a0001c0002t0004g0205	2	340	0.0059	32	c.-60 others(45): Show c.-60-38_-60-37insTATATATATATATATATATATATATATATATA	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK2_chr8_89752816_89796064	89753834	T T	TTATATAT others(25): Show TTATATATTTAAAATATATATTTAAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02523.hp2 HG03688.hp1 others(3): Show HG01106.hp1 HG02523.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0075 a0001c0001t0001g0083 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0086	6	380	0.0158	32	c.-42 others(43): Show c.-4227_-4226insTATATATTTAAAATATATATTTAAAATAAATA	RIPK2	ENSG00000104312.8	transcript	ENST00000220751.5	protein_coding		3981		chr8	TogoVar
RIPOR3_chr20_50581108_50696542	50682612	A A	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	280	0.0036	32	c.3+8 others(45): Show c.3+8513_3+8514insCACACACACACACACACACACACACACACACA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIT2_chr18_42738227_43120685	43105457	G G	GGAGGAAG others(25): Show GGAGGAAGGGAGGAAGAGAGGAAGGGAGGAAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01109.hp1 others(23): Show HG00280.hp1 HG00323.hp2 HG01109.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG02056.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 NA18906.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(23): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0206 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0003g0004	26	240	0.1083	32	c.103 others(49): Show c.103+9959_103+9960insTCTTCCTCCCTTCCTCTCTTCCTCCCTT CCTC	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	1/4			chr18	TogoVar
RLF_chr1_40156387_40245921	40224623	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	338	0.0030	32	c.947 others(49): Show c.947+1944_947+1945insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RMDN2_chr2_37920287_38022744	38003546	T T	TGATAGAT others(25): Show TGATAGATAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	328	0.0031	32	c.104 others(49): Show c.1045-419_1045-388dupATAGATAGATAGATAGATAGATAGATAG ATAG	RMDN2	ENSG00000115841.21	transcript	ENST00000354545.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
RMND5A_chr2_86715291_86783041	86737574	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0102 a0001c0001t0006g0102	1	304	0.0033	32	c.143 others(49): Show c.143-3333_143-3332insATATATATATATATATATATATATATAT ATAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNASE2_chr14_20950487_20961436	20951851	T T	TGAAAGAA others(25): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	32	c.-36 others(43): Show c.-3691_-3690insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3635		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	32	c.-36 others(43): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18950.hp2 NA18957.hp2 others(3): Show NA18945.hp1 NA18950.hp2 NA18957.hp2 NA18960.hp1 NA18973.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	410	0.0146	32	c.-36 others(43): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	32	c.-36 others(43): Show c.-3657_-3656insAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	32	c.-36 others(43): Show c.-3657_-3656insAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(25): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	32	c.-36 others(43): Show c.-3657_-3656insAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951921	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	32	c.-36 others(43): Show c.-3621_-3620insAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3565		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21057618	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG00735.hp2 others(5): Show HG00140.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01257.hp2 HG02280.hp2 HG02451.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	8	448	0.0179	32	c.-27 others(41): Show c.-275_-274insATATATATATATATATATATATATATATATAT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		203		chr14	TogoVar
RNASE8_chr14_21052822_21063455	21062708	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA18974.hp1 NA18978.hp2 others(1): Show HG02165.hp2 NA18974.hp1 NA18978.hp2 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0000 a0004c0006t0001g0000 a0001c0001t0001g0000 a0004c0006t0001g0000	4	448	0.0089	32	c.43 others(43): Show c.4351_*4352insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RNASE8	ENSG00000173431.2	transcript	ENST00000308227.2	protein_coding		4254		chr14	TogoVar
RNASEH1_chr2_3536430_3563333	3540233	T T	TATATCAT others(25): Show TATATCATTGTTAAGTTTCTAAAGATATAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0166 a0001c0001t0059g0166	1	408	0.0025	32	c.55 others(43): Show c.5551_*5552insTTTTTATATCTTTAGAAACTTAACAATGATAT	RNASEH1	ENSG00000171865.10	transcript	ENST00000315212.4	protein_coding		1196		chr2	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	420	0.0024	32	c.-38 others(45): Show c.-38-20_-38-19insATATATATATATATATATATATATATATATTT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RNF11_chr1_51231273_51278447	51234283	T T	TTCTTTTT others(25): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02486.hp1 HG02965.hp2 others(3): Show HG02132.hp2 HG02486.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011	a0001c0001t0003g0112 a0001c0001t0004g0007 a0001c0001t0008g0021 others(3): Show a0001c0001t0003g0112 a0001c0001t0004g0007 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0011g0025	6	274	0.0219	32	c.-24 others(43): Show c.-2474_-2473insTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	RNF11	ENSG00000123091.5	transcript	ENST00000242719.4	protein_coding		1989		chr1	TogoVar
RNF121_chr11_71924046_72002597	71942803	T T	TATATATA others(25): Show TATATATAGATATAGATATATATATGTACACAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0222 a0001c0002t0006g0222	1	254	0.0039	32	c.63+ others(49): Show c.63+13680_63+13681insTATATAGATATAGATATATATATGTACA CAAA	RNF121	ENSG00000137522.18	transcript	ENST00000361756.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF121_chr11_71924046_72002597	71942803	T T	TATATATA others(25): Show TATATATATATATAGATATATATATGTACACAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0235 a0001c0002t0006g0235	1	254	0.0039	32	c.63+ others(49): Show c.63+13680_63+13681insTATATATATATAGATATATATATGTACA CAAA	RNF121	ENSG00000137522.18	transcript	ENST00000361756.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF126_chr19_642526_668214	646389	C C	CTTCCAAC others(25): Show CTTCCAACAGGAAAACGGCTCGAAGCTCTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	434	0.0023	32	c.17 others(43): Show c.1738_*1739insAGACAGAGCTTCGAGCCGTTTTCCTGTTGGAA	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		1136		chr19	TogoVar
RNF126_chr19_642526_668214	667346	G G	GTCCCAGG others(25): Show GTCCCAGGCGGACCAAGCCCAGGCGGACCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02148.hp1 NA18952.hp2 HG00735.hp1 HG02148.hp1 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0252 a0001c0002t0001g0276 a0002c0003t0001g0216 a0001c0002t0001g0252 a0001c0002t0001g0276 a0002c0003t0001g0216	3	434	0.0069	32	c.-42 others(43): Show c.-4226_-4225insACGTGGTCCGCCTGGGCTTGGTCCGCCTGGGA	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4133		chr19	TogoVar
RNF126_chr19_642526_668214	667393	G G	GTCCCAGG others(25): Show GTCCCAGGCGGACCAAGCCCAGGTGGACCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03225.hp1 HG03579.hp1 HG02257.hp2 HG03225.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0003 a0002c0005t0001 a0001c0002t0003 a0002c0005t0001	a0001c0002t0003g0380 a0001c0002t0003g0406 a0002c0005t0001g0059 a0001c0002t0003g0380 a0001c0002t0003g0406 a0002c0005t0001g0059	3	434	0.0069	32	c.-42 others(43): Show c.-4273_-4272insACGTGGTCCACCTGGGCTTGGTCCGCCTGGGA	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4180		chr19	TogoVar
RNF126_chr19_642526_668214	667440	G G	GTCCCAGG others(25): Show GTCCCAGGCGGACCAAGCCCAGGCGGACCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	434	0.0023	32	c.-43 others(43): Show c.-4320_-4319insACGTGGTCCGCCTGGGCTTGGTCCGCCTGGGA	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4227		chr19	TogoVar
RNF130_chr5_179950067_180076759	179998857	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18939.hp1 HG00408.hp2 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0179 a0001c0003t0001g0152 a0001c0003t0001g0179	2	340	0.0059	32	c.693 others(51): Show c.693+14203_693+14204insTATATATATATATATATATATATATA TATATA	RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8			chr5	TogoVar
RNF139_chr8_124469880_124493618	124482958	A A	AATATATA others(25): Show AATATATATATATTATTTAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	408	0.0025	32	c.182 others(49): Show c.182-2872_182-2841dupATATATATATATTATTTAAATATATATA TATT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF141_chr11_10506673_10546187	10539691	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18952.hp2 NA18986.hp1 others(2): Show NA18940.hp2 NA18952.hp2 NA18986.hp1 NA19006.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0017 a0001c0001t0002g0266 a0001c0001t0003g0265 a0001c0001t0002g0017 a0001c0001t0002g0266 a0001c0001t0003g0265	5	374	0.0134	32	c.-48 others(49): Show c.-48+1430_-48+1431insATATATATATATATATATATATATATAT ATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF150_chr4_140854807_141138469	140899974	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0029 a0001c0001t0012g0029	1	184	0.0054	32	c.119 others(53): Show c.1198+11169_1198+11170insCAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	6/6			chr4	TogoVar
RNF157_chr17_76137474_76245493	76182760	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp1 HG02965.hp2 others(2): Show HG01884.hp1 HG02818.hp1 HG02965.hp2 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0006t0007	a0001c0001t0001g0148 a0001c0001t0002g0149 a0001c0001t0003g0125 others(2): Show a0001c0001t0001g0148 a0001c0001t0002g0149 a0001c0001t0003g0125 a0001c0006t0007g0014 a0001c0006t0007g0016	5	234	0.0214	32	c.208 others(49): Show c.208-8971_208-8970insATATATATATATATATATATATATATAT ATAT	RNF157	ENSG00000141576.16	transcript	ENST00000269391.11	protein_coding	2/18			chr17	TogoVar
RNF17_chr13_24759169_24884921	24797705	A A	AGTGTGTG others(25): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0342 a0002c0003t0001g0342	1	426	0.0024	32	c.139 others(51): Show c.1399+1419_1399+1450dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF17_chr13_24759169_24884921	24797705	A A	AGTTTGTG others(25): Show AGTTTGTGTGTCTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18970.hp2 NA19057.hp1 HG06807.hp2 NA18970.hp2 NA19057.hp1	a0003 a0005 a0003 a0005	a0003c0007 a0005c0005 a0003c0007 a0005c0005	a0003c0007t0001 a0005c0005t0001 a0003c0007t0001 a0005c0005t0001	a0003c0007t0001g0004 a0005c0005t0001g0096 a0005c0005t0001g0399 a0003c0007t0001g0004 a0005c0005t0001g0096 a0005c0005t0001g0399	3	426	0.0070	32	c.139 others(51): Show c.1399+1412_1399+1413insTTGTGTGTCTGTGTGTGTGTGTGTGT GTGTGT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF17_chr13_24759169_24884921	24882089	T T	TATAGATA others(25): Show TATAGATACATCTATATAGATACATCTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA19086.hp1 NA18995.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0257 a0001c0001t0001g0262	2	426	0.0047	32	c.23 others(43): Show c.2363_*2364insATAGATACATCTATATAGATACATCTATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2169		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882151	G G	GATACATC others(25): Show GATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03130.hp1 HG02970.hp2 HG03130.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0118 a0010c0015t0002g0119 a0010c0015t0002g0118 a0010c0015t0002g0119	2	426	0.0047	32	c.24 others(43): Show c.2425_*2426insATACATCTATATAGATATATAGATACATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2231		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882169	G G	GATACATC others(25): Show GATACATCTATATAGATATATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0120 a0010c0015t0002g0120	1	426	0.0024	32	c.24 others(43): Show c.2443_*2444insATACATCTATATAGATATATAGATACATCTAT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2249		chr13	TogoVar
RNF180_chr5_64160843_64377869	64192903	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0061 a0002c0002t0008g0061	1	250	0.0040	32	c.1-7 others(45): Show c.1-7904_1-7903insGTGTGTGTATATATATATATATATATATATAT	RNF180	ENSG00000164197.12	transcript	ENST00000389100.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
RNF183_chr9_113292093_113308376	113308170	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0049 a0001c0001t0017g0049	1	440	0.0023	32	c.-55 others(43): Show c.-5556_-5555insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	RNF183	ENSG00000165188.14	transcript	ENST00000489339.2	protein_coding		4795		chr9	TogoVar
RNF212_chr4_1066478_1118564	1113632	G G	GGATCTCC others(25): Show GGATCTCCCGCCAGCCACCTCCGCCAACCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0365 a0001c0001t0009g0365	1	406	0.0025	32	c.-16 others(41): Show c.-169_-168insGCGCGGTTGGCGGAGGTGGCTGGCGGGAGATC	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding		69		chr4	TogoVar
RNF213_chr17_80255852_80403794	80281104	T T	TACCCCAC others(25): Show TACCCCACTCACACCACTCACACACACCCCCAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp1 HG03516.hp1 HG02258.hp1 HG03453.hp1 HG03516.hp1	a0028 a0088 a0028 a0088	a0028c0034 a0088c0116 a0028c0034 a0088c0116	a0028c0034t0006 a0028c0034t0012 a0088c0116t0016 a0028c0034t0006 a0028c0034t0012 a0088c0116t0016	a0028c0034t0006g0239 a0028c0034t0012g0237 a0088c0116t0016g0238 a0028c0034t0006g0239 a0028c0034t0012g0237 a0088c0116t0016g0238	3	292	0.0103	32	c.262 others(49): Show c.262-6676_262-6645dupCCCACTCACACCACTCACACACACCCCC ACAC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80286479	G G	GTCATGCC others(25): Show GTCATGCCCTGGGTGGGTGGGAACGCAGCCTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0033 a0033	a0033c0143 a0033c0143	a0033c0143t0013 a0033c0143t0013	a0033c0143t0013g0177 a0033c0143t0013g0177	1	292	0.0034	32	c.262 others(49): Show c.262-1333_262-1302dupATGCCCTGGGTGGGTGGGAACGCAGCCT CCTC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF216_chr7_5615047_5786663	5768346	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01123.hp1 others(8): Show HG00140.hp1 HG00642.hp2 HG01123.hp1 HG01192.hp1 HG02148.hp2 HG02293.hp2 HG03669.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0222 others(8): Show a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0260 a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0004g0235	11	274	0.0402	32	c.-69 others(49): Show c.-69-7240_-69-7209dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	RNF216	ENSG00000011275.19	transcript	ENST00000389902.8	protein_coding	1/16			chr7	TogoVar
RNF24_chr20_3922311_4020558	4008398	G G	GTAATATG others(25): Show GTAATATGTATAATATATATTATATATAATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0032 a0001c0001t0009g0032	1	362	0.0028	32	c.-8+ others(47): Show c.-8+7038_-8+7039insTATATTATATATAATATATATTATACATAT TA	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF24_chr20_3922311_4020558	4008411	T T	TATATATA others(25): Show TATATATATAATATATAATATATAATATGTATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG03098.hp1 others(1): Show HG01884.hp2 HG02257.hp1 HG03098.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0053 a0001c0001t0098 a0001c0001t0051 a0001c0001t0053 a0001c0001t0098	a0001c0001t0051g0352 a0001c0001t0051g0354 a0001c0001t0053g0010 others(1): Show a0001c0001t0051g0352 a0001c0001t0051g0354 a0001c0001t0053g0010 a0001c0001t0098g0353	4	362	0.0111	32	c.-8+ others(47): Show c.-8+7025_-8+7026insTATACATATTATATATTATATATTATATAT AT	RNF24	ENSG00000101236.17	transcript	ENST00000358395.11	protein_coding	1/5			chr20	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19082.hp1 HG02486.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0253 a0001c0001t0013g0136 a0001c0001t0007g0253 a0001c0001t0013g0136	2	350	0.0057	32	c.-2- others(47): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF32_chr7_156635774_156682130	156680403	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03098.hp1 NA18522.hp1 HG02809.hp2 HG03098.hp1 NA18522.hp1	a0004 a0004	a0004c0005 a0004c0012 a0004c0005 a0004c0012	a0004c0005t0002 a0004c0012t0002 a0004c0005t0002 a0004c0012t0002	a0004c0005t0002g0060 a0004c0005t0002g0266 a0004c0012t0002g0265 a0004c0005t0002g0060 a0004c0005t0002g0266 a0004c0012t0002g0265	3	448	0.0067	32	c.37 others(43): Show c.3748_*3749insGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGT	RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding		3274		chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)