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 (≤).

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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
SLC12A7_chr5_1045384_1117063	1073286	C C	CATCACAC others(35): Show CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18984.hp1 HG01106.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0049 a0001c0001t0001g0053	2	118	0.0170	42	c.224 others(59): Show c.2241+346_2241+347insACCCGTGTGCTGGGGGCTCACTGGGGGC TGCATAAGTGTGAT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1115869	T T	TGGGAAGG others(35): Show TGGGAAGGGAGGAGAGGGAAGGGAGGAGAGGGAAGGGAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0020 a0001c0018t0020	a0001c0018t0020g0076 a0001c0018t0020g0076	1	118	0.0085	42	c.-38 others(53): Show c.-3879_-3878insTCTCCTCCCTTCCCTCTCCTCCCTTCCCTCTCCT CCCTTCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		3807		chr5	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(35): Show ATATATACATATATATATATATATACATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02145.hp2 others(6): Show HG01243.hp1 HG01891.hp2 HG02145.hp2 HG02572.hp2 HG02717.hp2 HG03098.hp2 HG03486.hp1 HG03540.hp2 NA18906.hp2	a0001 a0003 a0015 others(1): Show a0001 a0003 a0015 a0022	a0001c0002 a0003c0005 a0015c0017 others(1): Show a0001c0002 a0003c0005 a0015c0017 a0022c0031	a0001c0002t0003 a0003c0005t0008 a0015c0017t0002 others(1): Show a0001c0002t0003 a0003c0005t0008 a0015c0017t0002 a0022c0031t0003	a0001c0002t0003g0011 a0001c0002t0003g0279 a0001c0002t0003g0281 others(5): Show a0001c0002t0003g0011 a0001c0002t0003g0279 a0001c0002t0003g0281 a0001c0002t0003g0284 a0001c0002t0003g0322 a0003c0005t0008g0285 a0015c0017t0002g0286 a0022c0031t0003g0283	9	402	0.0224	42	c.135 others(61): Show c.1351+1463_1351+1464insTACATATATATATATATATACATATA TATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC15A3_chr11_60932084_60957176	60949404	A A	AGAGAAAA others(35): Show AGAGAAAAGAAGAAGGAAAGAAGAAGAAGAAAGAAGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	382	0.0026	42	c.558 others(59): Show c.558+1589_558+1590insCTTTCTTCTTCTTTCTTCTTCTTCTTTC CTTCTTCTTTTCTC	SLC15A3	ENSG00000110446.12	transcript	ENST00000227880.8	protein_coding	1/7			chr11	TogoVar
SLC15A5_chr12_16183485_16282685	16235258	A A	ATATATAT others(35): Show ATATATATGTATATATGTATATGTATATATGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0239 a0004c0004t0001g0239	1	324	0.0031	42	c.116 others(61): Show c.1162+4422_1162+4423insCATATATATACACATATATACATATA CATATATACATATATA	SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	5/8			chr12	TogoVar
SLC16A4_chr1_110357857_110396026	110380058	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18979.hp1 homoSapiens_chm13v2.hp1 HG01928.hp1 NA18979.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0004 a0001c0001t0001 a0002c0003t0001 a0002c0003t0004	a0001c0001t0001g0101 a0002c0003t0001g0088 a0002c0003t0004g0080 a0001c0001t0001g0101 a0002c0003t0001g0088 a0002c0003t0004g0080	3	432	0.0069	42	c.527 others(57): Show c.527-703_527-702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	5/8			chr1	TogoVar
SLC16A9_chr10_59645764_59714850	59694801	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18979.hp2 NA18959.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0002g0139 a0001c0001t0002g0144	2	352	0.0057	42	c.-36 others(61): Show c.-36-10475_-36-10474insATATATATATATATATATATATATAT ATATATATATATATAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59694817	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	352	0.0028	42	c.-36 others(61): Show c.-36-10491_-36-10490insGTGTGTGTATATATATATATATATAT ATATATATATATATAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59694817	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0014 a0001c0001t0017g0014	1	352	0.0028	42	c.-36 others(61): Show c.-36-10491_-36-10490insGTGTGTATATATATATATATATATAT ATATATATATATATAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59694817	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02809.hp2 HG02922.hp2 HG00140.hp2 HG02809.hp2 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0010 a0001c0001t0003 a0003c0003t0010	a0001c0001t0003g0083 a0003c0003t0010g0127 a0003c0003t0010g0174 a0001c0001t0003g0083 a0003c0003t0010g0127 a0003c0003t0010g0174	3	352	0.0085	42	c.-36 others(61): Show c.-36-10491_-36-10490insGTGTATATATATATATATATATATAT ATATATATATATATAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC16A9_chr10_59645764_59714850	59694817	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG03704.hp2 others(1): Show HG02630.hp1 HG02818.hp2 HG03704.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014	a0001c0001t0002g0068 a0001c0001t0002g0301 a0001c0001t0003g0311 others(1): Show a0001c0001t0002g0068 a0001c0001t0002g0301 a0001c0001t0003g0311 a0001c0001t0014g0261	4	352	0.0114	42	c.-36 others(61): Show c.-36-10491_-36-10490insGTATATATATATATATATATATATAT ATATATATATATATAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	1/5			chr10	TogoVar
SLC17A2_chr6_25907754_25935691	25932367	A A	AAAAGAAA others(35): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01496.hp1 HG02080.hp1 others(6): Show HG01074.hp2 HG01496.hp1 HG02080.hp1 HG02165.hp2 NA18956.hp1 NA18977.hp2 NA19077.hp1 NA19083.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0007 a0001c0001t0001 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0113 a0001c0002t0002g0011 a0001c0002t0002g0017 others(6): Show a0001c0001t0001g0113 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0043 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0188 a0001c0002t0002g0223 a0001c0002t0007g0177	9	380	0.0237	42	c.-21 others(53): Show c.-2175_-2174insCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTCTTT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1677		chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25932367	A A	AAAAGAAA others(35): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00673.hp1 HG00735.hp1 others(7): Show HG00140.hp2 HG00673.hp1 HG00735.hp1 HG01109.hp2 HG01981.hp1 HG02622.hp1 NA18956.hp2 NA19080.hp2 NA19090.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0049 others(6): Show a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0212	10	380	0.0263	42	c.-21 others(53): Show c.-2175_-2174insCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1677		chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25932367	A A	AAAAGAAA others(35): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02723.hp1 HG03239.hp1 others(2): Show HG02145.hp1 HG02723.hp1 HG03239.hp1 HG03491.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0050 a0001c0002t0002g0211 others(1): Show a0001c0002t0002g0018 a0001c0002t0002g0050 a0001c0002t0002g0211 a0001c0002t0002g0213	5	380	0.0132	42	c.-21 others(53): Show c.-2175_-2174insCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1677		chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25932409	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	380	0.0026	42	c.-22 others(53): Show c.-2217_-2216insCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1719		chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792288	A A	AAAGAAAG others(35): Show AAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	304	0.0033	42	c.184 others(59): Show c.184-2017_184-2016insCCTTTCTTTCTTTCTTTCTTTCTCTTTC TTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC1A6_chr19_14945033_14984864	14948945	A A	ACGTGTGT others(35): Show ACGTGTGTGTATATATATATATATATATATATATACGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0069 a0001c0003t0003g0069	1	408	0.0025	42	c.12 others(53): Show c.1249_*1250insCACACACGTATATATATATATATATATATATATA CACACACG	SLC1A6	ENSG00000105143.13	transcript	ENST00000594383.2	protein_coding		1087		chr19	TogoVar
SLC22A14_chr3_38277294_38323575	38313685	T T	TGTGCGCG others(35): Show TGTGCGCGCGCGCGCGCGCGCGCGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0087 a0003c0003t0002g0087	1	406	0.0025	42	c.116 others(57): Show c.1164-41_1164-40insTGCGCGCGCGCGCGCGCGCGCGTGTGTGTG TGTGTGCGCGCG	SLC22A14	ENSG00000144671.11	transcript	ENST00000448498.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC22A14_chr3_38277294_38323575	38313685	T T	TGTGCGCG others(35): Show TGTGCGCGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02293.hp2 NA18947.hp2 others(6): Show HG02280.hp1 HG02293.hp2 NA18947.hp2 NA18960.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18991.hp2	a0003 a0005 a0011 others(2): Show a0003 a0005 a0011 a0016 a0031	a0003c0003 a0005c0005 a0011c0010 others(2): Show a0003c0003 a0005c0005 a0011c0010 a0016c0016 a0031c0034	a0003c0003t0002 a0005c0005t0002 a0011c0010t0002 others(2): Show a0003c0003t0002 a0005c0005t0002 a0011c0010t0002 a0016c0016t0001 a0031c0034t0002	a0003c0003t0002g0081 a0003c0003t0002g0103 a0003c0003t0002g0148 others(6): Show a0003c0003t0002g0081 a0003c0003t0002g0103 a0003c0003t0002g0148 a0003c0003t0002g0203 a0003c0003t0002g0215 a0005c0005t0002g0281 a0011c0010t0002g0180 a0016c0016t0001g0300 a0031c0034t0002g0066	9	406	0.0222	42	c.116 others(57): Show c.1164-41_1164-40insTGCGCGCGCGCGCGCGCGCGTGTGTGTGTG TGTGTGCGCGCG	SLC22A14	ENSG00000144671.11	transcript	ENST00000448498.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC22A14_chr3_38277294_38323575	38313685	T T	TGTGCGCG others(35): Show TGTGCGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19055.hp2 NA19090.hp2 HG02083.hp2 NA19055.hp2 NA19090.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0008 a0003c0003 a0008c0008	a0003c0003t0002 a0008c0008t0002 a0003c0003t0002 a0008c0008t0002	a0003c0003t0002g0069 a0003c0003t0002g0216 a0008c0008t0002g0274 a0003c0003t0002g0069 a0003c0003t0002g0216 a0008c0008t0002g0274	3	406	0.0074	42	c.116 others(57): Show c.1164-41_1164-40insTGCGCGCGCGCGCGCGCGTGTGTGTGTGTG TGTGCGCGCGCG	SLC22A14	ENSG00000144671.11	transcript	ENST00000448498.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC22A14_chr3_38277294_38323575	38313685	T T	TGTGCGCG others(35): Show TGTGCGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18985.hp1 NA18952.hp2 NA18985.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0002 a0005c0005t0002 a0003c0003t0002 a0005c0005t0002	a0003c0003t0002g0366 a0005c0005t0002g0294 a0003c0003t0002g0366 a0005c0005t0002g0294	2	406	0.0049	42	c.116 others(57): Show c.1164-41_1164-40insTGCGCGCGCGCGCGCGCGTGTGTGTGTGTG TGTGTGCGCGCG	SLC22A14	ENSG00000144671.11	transcript	ENST00000448498.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC22A16_chr6_110419687_110481613	110454811	T T	TATATATG others(35): Show TATATATGTTATATTATATAATATATATATTATAATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	416	0.0024	42	c.533 others(59): Show c.533+1685_533+1726dupTATATATATTATAATATATATATTATAT AATATAACATATAT	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC22A16_chr6_110419687_110481613	110454824	T T	TTATATAA others(35): Show TTATATAATATATATTATAATATATATAATATATGTTATATTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03486.hp1 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0039 a0001c0001t0001g0040	2	416	0.0048	42	c.533 others(59): Show c.533+1713_533+1714insTAATATAACATATATTATATATATTATA ATATATATTATATA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC22A16_chr6_110419687_110481613	110454853	A A	AATATATG others(35): Show AATATATGTTATATTATATATAATATATATAATAATATATATT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0274 a0002c0015t0001g0274	1	416	0.0024	42	c.533 others(59): Show c.533+1684_533+1685insAATATATATTATTATATATATTATATAT AATATAACATATAT	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC22A16_chr6_110419687_110481613	110454943	T T	TATATGTT others(35): Show TATATGTTATATTATATATAATATATATATTATAATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	416	0.0024	42	c.533 others(59): Show c.533+1594_533+1595insTATATATATTATAATATATATATTATAT ATAATATAACATAT	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC23A3_chr2_219156465_219175029	219159526	C C	CATATATA others(35): Show CATATATATATATGCATATATATATGCATATATATATATGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	434	0.0046	42	c.23 others(53): Show c.2382_*2383insATGCATATATATATATGCATATATATATGCATAT ATATATAT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1938		chr2	TogoVar
SLC23A3_chr2_219156465_219175029	219159552	C C	CATATATA others(35): Show CATATATATATATGCATATATATATATGCATATATATATGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA19066.hp2 NA18953.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	434	0.0046	42	c.23 others(53): Show c.2356_*2357insATGCATATATATATGCATATATATATATGCATAT ATATATAT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1912		chr2	TogoVar
SLC23A3_chr2_219156465_219175029	219159578	T T	TATATATG others(35): Show TATATATGCATATATATATATGCATATATATGCATATATATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02155.hp1 HG01123.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	434	0.0046	42	c.23 others(53): Show c.2330_*2331insGCATATATATGCATATATATGCATATATATATAT GCATATAT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1886		chr2	TogoVar
SLC23A3_chr2_219156465_219175029	219159590	T T	TATATATG others(35): Show TATATATGCATATATATATGCATATATATATGCATATATATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	434	0.0023	42	c.23 others(53): Show c.2318_*2319insGCATATATATGCATATATATATGCATATATATAT GCATATAT	SLC23A3	ENSG00000213901.11	transcript	ENST00000409878.8	protein_coding		1874		chr2	TogoVar
SLC25A13_chr7_96115220_96327098	96134793	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA19003.hp1 NA19084.hp1 HG01975.hp1 NA19003.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0170 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0170	3	276	0.0109	42	c.145 others(61): Show c.1453-2913_1453-2912insTATATATATATATATATATATATATA TATATATATATATATA	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	14/17			chr7	TogoVar
SLC25A17_chr22_40764630_40824346	40821760	A A	ATATACGT others(35): Show ATATACGTATATATATATACATATATACGTATATATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0038 a0002c0004t0004g0038	1	326	0.0031	42	c.-25 others(53): Show c.-2513_-2512insCGTATATATATATACGTATATATGTATATATATA TACGTATA	SLC25A17	ENSG00000100372.15	transcript	ENST00000435456.7	protein_coding		2415		chr22	TogoVar
SLC25A21_chr14_36672921_37177606	36764066	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	164	0.0061	42	c.204 others(61): Show c.204-29494_204-29493insCTCTCTCTCTCTCTCTCTCTCTTTCT TTCTTTCTTTCTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A21_chr14_36672921_37177606	36789794	A A	AATACATT others(35): Show AATACATTTTATATATTTATATATAATATATTTTATATATTAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0010 a0001c0001t0011	a0001c0001t0010g0024 a0001c0001t0011g0162 a0001c0001t0010g0024 a0001c0001t0011g0162	2	164	0.0122	42	c.203 others(61): Show c.203+24123_203+24124insATAATATATAAAATATATTATATATA AATATATAAAATGTAT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC25A33_chr1_9534465_9590173	9564739	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18960.hp1 NA19084.hp2 NA18956.hp1 NA18960.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0317 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0317	3	362	0.0083	42	c.237 others(59): Show c.237-2544_237-2543insAAAATATATATATATATATATATATATA TATATATATATATA	SLC25A33	ENSG00000171612.7	transcript	ENST00000302692.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC25A33_chr1_9534465_9590173	9564765	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	362	0.0028	42	c.237 others(59): Show c.237-2518_237-2517insTATATATATATATATATATATATATATA TATATATACACACA	SLC25A33	ENSG00000171612.7	transcript	ENST00000302692.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC25A36_chr3_140936836_140985995	140983539	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0151 a0001c0001t0046g0151	1	270	0.0037	42	c.70 others(53): Show c.7086_*7087insAAAAAAAAAAAAAAAATATATATATATATATATA TATATATG	SLC25A36	ENSG00000114120.14	transcript	ENST00000324194.12	protein_coding		2545		chr3	TogoVar
SLC2A11_chr22_23852875_23891312	23857508	C C	CCGTCTCA others(35): Show CCGTCTCAGTGCCTGCGGCAGAGGCGGATGGAGATGAACTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0044 a0001c0001t0028g0044	1	415	0.0024	42	c.-49 others(51): Show c.-492_-491insCGTCTCAGTGCCTGCGGCAGAGGCGGATGGAGATGA ACTGAG	SLC2A11	ENSG00000133460.20	transcript	ENST00000316185.9	protein_coding		366		chr22	TogoVar
SLC2A13_chr12_39750025_40111081	39760953	A A	AACACACA others(35): Show AACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01981.hp1 HG03834.hp1 HG00280.hp2 HG01981.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0107 a0001c0001t0003g0207 a0001c0001t0004g0001 a0001c0001t0001g0107 a0001c0001t0003g0207 a0001c0001t0004g0001	3	214	0.0140	42	c.172 others(59): Show c.1721-702_1721-701insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	9/9			chr12	TogoVar
SLC2A13_chr12_39750025_40111081	39855819	G G	GTCTTCTA others(35): Show GTCTTCTAATTTAATCAATATACAATCAATATACAATACAATC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19080.hp1 NA19010.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0185 a0001c0001t0002g0163 a0001c0001t0002g0185	2	214	0.0094	42	c.131 others(61): Show c.1319+8942_1319+8943insGATTGTATTGTATATTGATTGTATAT TGATTAAATTAGAAGA	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	6/9			chr12	TogoVar
SLC2A13_chr12_39750025_40111081	39972084	T T	TTATATAT others(35): Show TTATATATAATTTATATATATAGAATTCATATTTATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00621.hp1 others(31): Show HG00280.hp2 HG00408.hp1 HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01496.hp2 HG02004.hp2 HG02080.hp2 HG02132.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03669.hp1 HG04184.hp1 NA18939.hp2 NA18943.hp1 NA18951.hp1 NA18960.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18985.hp1 NA18992.hp2 NA18999.hp1 NA19011.hp1 NA19068.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0024 a0001c0005t0006	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 others(31): Show a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0148 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0003g0030 a0001c0001t0003g0193 a0001c0001t0005g0034 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0006g0205 a0001c0001t0024g0042 a0001c0005t0006g0067	34	214	0.1589	42	c.926 others(61): Show c.926-20720_926-20719insTATATATATAAATATGAATTCTATAT ATATAAATTATATATA	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	3/9			chr12	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747425	G G	GGGGGCAG others(35): Show GGGGGCAGGGGGTGAGGCAGGGCCTGGTGGAGGTGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	416	0.0024	42	c.44 others(53): Show c.4435_*4436insGGGGCAGGGGGTGAGGCAGGGCCTGGTGGAGGTG GGGGGGGC	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3376		chr20	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747505	G G	GGGGGCCA others(35): Show GGGGGCCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01167.hp2 NA21309.hp2 HG01099.hp1 HG01167.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0001 a0001c0001t0001g0026	3	416	0.0072	42	c.45 others(53): Show c.4515_*4516insGGGGCCAGGGGGTGAGCAGGGCCTGGTGGAGGTG GGGGGGGC	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3456		chr20	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747505	G G	GGGGGGCA others(35): Show GGGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	42	c.45 others(53): Show c.4515_*4516insGGGGGCAGGGGGTGAGCAGGGCCTGGTGGAGGTG GGGGGGGC	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3456		chr20	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747510	C C	CCAGGGGG others(35): Show CCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01175.hp1 HG01243.hp1 others(18): Show HG00280.hp1 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG01496.hp1 HG01934.hp1 HG01981.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp2 HG02970.hp2 HG03669.hp2 HG03831.hp2 HG04204.hp2 NA18959.hp2 NA18966.hp1 NA18998.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0022 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0003g0001 a0002c0002t0002g0002 a0002c0002t0004g0002	21	416	0.0505	42	c.45 others(53): Show c.4520_*4521insCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGG GGGCGGGG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3461		chr20	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747512	A A	AGGGGGTG others(35): Show AGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGCGGGGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02735.hp1 HG01978.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0001 a0001c0001t0021g0001 a0001c0001t0001g0001 a0001c0001t0021g0001	2	416	0.0048	42	c.45 others(53): Show c.4522_*4523insGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGG CGGGGCAG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3463		chr20	TogoVar
SLC2A8_chr9_127392169_127412898	127409313	G G	GGAGGTGG others(35): Show GGAGGTGGAGGAAGATGATGGGGAGGTGGGGGGAGATGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01255.hp1 HG02698.hp2 HG01081.hp1 HG01255.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	3	418	0.0072	42	c.20 others(53): Show c.2064_*2065insGAGGTGGAGGAAGATGATGGGGAGGTGGGGGGAG ATGATGGA	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		1416		chr9	TogoVar
SLC2A9_chr4_9821224_10026497	9931918	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04228.hp2 HG03704.hp2 HG04228.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0179 a0002c0006t0001g0180 a0002c0006t0001g0179 a0002c0006t0001g0180	2	336	0.0060	42	c.814 others(59): Show c.814+9994_814+9995insTTGAGAGAGAGAGAGATTGAGAGAGAGA GAGAGAGAGAGAGA	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9931920	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG00738.hp1 HG01069.hp2	a0002 a0016 a0002 a0016	a0002c0006 a0016c0041 a0002c0006 a0016c0041	a0002c0006t0001 a0016c0041t0001 a0002c0006t0001 a0016c0041t0001	a0002c0006t0001g0191 a0016c0041t0001g0185 a0002c0006t0001g0191 a0016c0041t0001g0185	2	336	0.0060	42	c.814 others(59): Show c.814+9992_814+9993insTTGAGAGAGAGAGAGATTGAGAGAGAGA GAGAGAGAGAGAGA	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9931926	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCTCAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0272 a0002c0008t0001g0272	1	336	0.0030	42	c.814 others(59): Show c.814+9986_814+9987insTTGAGAGAGAGAGAGATTGAGAGAGAGA GAGAGAGAGAGAGA	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9931962	C C	CAATCTCT others(35): Show CAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0273 a0001c0025t0001g0273	1	336	0.0030	42	c.814 others(59): Show c.814+9950_814+9951insTATAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGATT	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	6/11			chr4	TogoVar

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Search Results (Total: 5093 hits)