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
EPB41L4B_chr9_109166974_109326059	109290722	T T	TATATATA others(37): Show TATATATATATATATATATACACACACACACATACATATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0078 a0002c0005t0016g0078	1	318	0.0031	44	c.307 others(63): Show c.307-10802_307-10801insGTATATATATGTATGTGTGTGTGTGT ATATATATATATATATAT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41_chr1_28909569_29125041	28990296	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0032 a0001c0002t0007 a0001c0002t0032	a0001c0002t0007g0200 a0001c0002t0032g0204 a0001c0002t0007g0200 a0001c0002t0032g0204	2	312	0.0064	44	c.468 others(61): Show c.468+2410_468+2411insTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	200	0.0050	44	c.154 others(61): Show c.154-1434_154-1433insGAAGGAAGGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0193 a0002c0002t0004g0193	1	200	0.0050	44	c.154 others(61): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA20905.hp1 HG01109.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0003 a0002c0002t0004	a0002c0002t0003g0187 a0002c0002t0004g0151 a0002c0002t0003g0187 a0002c0002t0004g0151	2	200	0.0100	44	c.154 others(61): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGAAAGAAAG AAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02004.hp1 HG01106.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0004 a0002c0005t0005 a0002c0002t0004 a0002c0005t0005	a0002c0002t0004g0191 a0002c0005t0005g0083 a0002c0002t0004g0191 a0002c0005t0005g0083	2	200	0.0100	44	c.154 others(61): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0180 a0002c0002t0004g0180	1	200	0.0050	44	c.154 others(61): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA5_chr4_65314567_65675489	65576113	G G	GAAAAGAA others(37): Show GAAAAGAAAAGAAAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0192 a0001c0001t0022g0192	1	234	0.0043	44	c.910 others(63): Show c.910+25527_910+25528insTCTTTTCTTTTCTTTTCTTTTCTTTT TTTCTTTTCTTTTCTTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	358	0.0028	44	c.432 others(61): Show c.4323+273_4323+274insGTGTGTGTATATATATATATATATATAT ATATATATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04228.hp2 NA18981.hp2 HG02738.hp1 HG04228.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0236 a0001c0001t0002g0260 a0001c0001t0002g0118 a0001c0001t0002g0236 a0001c0001t0002g0260	3	358	0.0084	44	c.432 others(61): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATATATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPS8L2_chr11_701231_732727	720958	C C	CCCGGCAG others(37): Show CCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGAGGGAGGGGAGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0055 a0001c0004t0005g0055	1	406	0.0025	44	c.557 others(57): Show c.557+71_557+72insCGGCAGGGAGGGAGGGGAGGAGCCGGCAGGGG AGGGGAGGAGCC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	720985	G G	GGGGAGGG others(37): Show GGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0314 a0001c0002t0001g0314	1	406	0.0025	44	c.558 others(57): Show c.558-64_558-63insGGCAGGGGAGGGGAGGAGCCCGGCAGGGAGGG AGGGGAGGAGCC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42926041	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19003.hp1 NA19075.hp2 others(1): Show HG01099.hp1 NA19003.hp1 NA19075.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 others(1): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0002t0026	a0001c0001t0008g0094 a0001c0001t0012g0213 a0001c0001t0013g0140 others(1): Show a0001c0001t0008g0094 a0001c0001t0012g0213 a0001c0001t0013g0140 a0001c0002t0026g0076	4	352	0.0114	44	c.657 others(59): Show c.657+294_657+295insACCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
ERBB4_chr2_211370717_212543802	211515912	A A	ATATATAT others(37): Show ATATATATATATATATATATATACATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	56	0.0179	44	c.248 others(65): Show c.2487+45990_2487+45991insAAAAAAAAAAAAAATATATATGTA TATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1121779	A A	ATCTCTAT others(37): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02615.hp2 HG02922.hp2 others(1): Show HG01106.hp2 HG02615.hp2 HG02922.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0049 a0001c0003t0088 a0002c0002t0036 others(1): Show a0001c0001t0049 a0001c0003t0088 a0002c0002t0036 a0002c0002t0105	a0001c0001t0049g0157 a0001c0003t0088g0021 a0002c0002t0036g0158 others(1): Show a0001c0001t0049g0157 a0001c0003t0088g0021 a0002c0002t0036g0158 a0002c0002t0105g0148	4	162	0.0247	44	c.156 others(63): Show c.1569+5749_1569+5750insCTATCTGTGTCTCTATCTCTATCTCT ATCTCTATCTGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121895	A A	ATCTGTGT others(37): Show ATCTGTGTCTCTATCTCTATATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0114 a0001c0003t0022g0114	1	162	0.0062	44	c.156 others(63): Show c.1569+5865_1569+5866insGTGTCTCTATCTCTATATCTCTATCT CTATCTCTATCTGTGTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122071	A A	ATCTCTAT others(37): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTATCTCTATCTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0019 a0001c0001t0095g0019	1	162	0.0062	44	c.156 others(63): Show c.1569+6039_1569+6040insCTCTATCTGTGTCTCTATCTCTATCT CTATCTATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122222	T T	TATCTCTA others(37): Show TATCTCTATCTGTGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0059 a0002c0007t0059	a0002c0007t0059g0071 a0002c0007t0059g0071	1	162	0.0062	44	c.156 others(63): Show c.1569+6199_1569+6200insGTGCCTATTGATATATCTGTATATAT CTATCTAAATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122270	T T	TATCTCTA others(37): Show TATCTCTATCTGTGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0089 a0002c0002t0089	a0002c0002t0089g0037 a0002c0002t0089g0037	1	162	0.0062	44	c.156 others(63): Show c.1569+6241_1569+6242insCTATCTGTGCCTATTGATATATCTGT ATATATCTATCTAAATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122475	G G	GCCTATTG others(37): Show GCCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0059 a0002c0007t0059	a0002c0007t0059g0071 a0002c0007t0059g0071	1	162	0.0062	44	c.156 others(63): Show c.1569+6442_1569+6443insCCTATTGATATATCTGTATATATCTA TCTAAATCTCTATCTCTA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122601	G G	GCCTATTG others(37): Show GCCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19030.hp1 HG01175.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0056 a0002c0002t0089 a0001c0001t0056 a0002c0002t0089	a0001c0001t0056g0085 a0002c0002t0089g0037 a0001c0001t0056g0085 a0002c0002t0089g0037	2	162	0.0124	44	c.156 others(63): Show c.1569+6568_1569+6569insCCTATTGATATATCTGTATATATCTA TCTAAATCTCTATCTCTA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC2_chr3_55503311_56473467	55714676	T T	TGTATATA others(37): Show TGTATATATATATGTGTGTATATATATATGTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	74	0.0135	44	c.271 others(65): Show c.2713-15165_2713-15164insGTGTATATATATATACATATATAT ATACACACATATATATATAC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGGGGAGG others(37): Show AGGGGAGGGGGGGAGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	334	0.0030	44	c.156 others(61): Show c.156-1325_156-1324insGAGGGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGGGGAGG others(37): Show AGGGGAGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	334	0.0030	44	c.156 others(61): Show c.156-1325_156-1324insGGGAGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(37): Show AGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	334	0.0030	44	c.156 others(61): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGAGGGGG AGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(37): Show AGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG02523.hp2 others(5): Show HG01169.hp1 HG01169.hp2 HG02523.hp2 HG06807.hp1 NA18943.hp1 NA18986.hp1 NA18986.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0167 others(5): Show a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0167 a0001c0001t0001g0270 a0001c0001t0001g0280 a0001c0001t0002g0011 a0001c0001t0002g0135 a0001c0001t0006g0006	8	334	0.0240	44	c.156 others(61): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(37): Show AGGGGGGGGAGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	334	0.0030	44	c.156 others(61): Show c.156-1332_156-1331insGAGGGGGGGAGGGGGGGGAGAGAGGGGA GGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GAGGGGGG others(37): Show GAGGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	334	0.0030	44	c.156 others(61): Show c.156-1323_156-1322insAGGGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGAGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GGGGGGGG others(37): Show GGGGGGGGGAGAGAGGGGAGGGGGGGGAGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	334	0.0030	44	c.156 others(61): Show c.156-1315_156-1314insAGAGAGGGGAGGGGGGGGAGGGGGGGGG AGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	700234	G G	GATCCGCA others(37): Show GATCCGCACACGCGCACAGGGCCGCACAGGCGCACAGGCCCGCAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0291 a0003c0004t0002g0291	1	378	0.0027	44	c.170 others(61): Show c.170-7623_170-7622insGTGCGGGCCTGTGCGCCTGTGCGGCCCT GTGCGCGTGTGCGGAT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714194	T T	TGGGATGT others(37): Show TGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	378	0.0027	44	c.169 others(61): Show c.169+1623_169+1666dupCACCGAGAGATGCCGGAAGAGGCCGCCT GGGTGCAGCACATCCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073438	A A	ATATATAT others(37): Show ATATATATATATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	442	0.0023	44	c.58+ others(59): Show c.58+8728_58+8729insGTATATATATATATATATATATATATGTAT ATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCCTT others(37): Show CTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA20752.hp1 HG01934.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0053 a0001c0001t0001g0065	2	442	0.0045	44	c.101 others(63): Show c.1013-1321_1013-1320insTTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091993	C C	CCCTTCCT others(37): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG01081.hp1 others(29): Show HG00544.hp1 HG00639.hp1 HG01081.hp1 HG01109.hp2 HG02056.hp2 HG02129.hp1 HG02602.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp2 HG03239.hp2 HG03486.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18952.hp2 NA18953.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18991.hp1 NA19057.hp1 NA19060.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0057 a0001c0001t0001g0334 a0001c0001t0002g0060 others(29): Show a0001c0001t0001g0057 a0001c0001t0001g0334 a0001c0001t0002g0060 a0001c0001t0002g0082 a0001c0001t0002g0103 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0158 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0236 a0001c0001t0002g0253 a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0302 a0001c0001t0002g0313 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0340 a0001c0001t0002g0353 a0001c0001t0002g0376 a0001c0001t0002g0391 a0001c0001t0002g0416 a0001c0001t0002g0417 a0001c0001t0003g0032	32	442	0.0724	44	c.101 others(63): Show c.1013-1196_1013-1195insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERO1B_chr1_236210101_236286958	236239839	A A	ATATATAT others(37): Show ATATATATATATATGTGTATATATATATATATGTGTATATATATG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0052 a0001c0009t0052	a0001c0009t0052g0270 a0001c0009t0052g0270	1	396	0.0025	44	c.506 others(61): Show c.506-3442_506-3441insCATATATATACACATATATATATATATA CACATATATATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar
ERP44_chr9_99974185_100104000	100100692	A A	ATATGTAC others(37): Show ATATGTACATATAATATATATATTATATGTATATATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0088 a0001c0001t0010g0088	1	220	0.0046	44	c.-18 others(55): Show c.-1853_-1852insATATATATAATATATACATATAATATATATATTA TATGTACATA	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1693		chr9	TogoVar
ESRP1_chr8_94636174_94712466	94668789	A A	ATGTGTGT others(37): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19054.hp1 NA18974.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0201 a0001c0001t0001g0010 a0001c0001t0001g0201	2	374	0.0054	44	c.123 others(61): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ETDB_chrX_135113955_135125526	135115699	C C	CATCTATT others(37): Show CATCTATTACTATATAATCTATTAATATATATTATTATATACAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	44	c.33 others(55): Show c.3382_*3383insATTGTATATAATAATATATATTAATAGATTATAT AGTAATAGAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3255		chrX	TogoVar
ETDB_chrX_135113955_135125526	135115765	T T	TTATATAT others(37): Show TTATATATTATTATATACAATATCTATTACTATATAATCTATTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02080.hp1 HG06807.hp2 HG00597.hp2 HG02080.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008	3	314	0.0096	44	c.33 others(55): Show c.3316_*3317insTTAATAGATTATATAGTAATAGATATTGTATATA ATAATATATA	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3189		chrX	TogoVar
ETF1_chr5_138501095_138548236	138510357	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	334	0.0030	44	c.108 others(61): Show c.1083+207_1083+208insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	9/10			chr5	TogoVar
ETV6_chr12_11644674_11900377	11669385	C C	CCATCCCT others(37): Show CCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	262	0.0038	44	c.33+ others(61): Show c.33+19226_33+19227insATCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCTTTC	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXD1_chr15_41177728_41235757	41179536	A A	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0097 a0001c0005t0001g0097	1	318	0.0031	44	c.43 others(55): Show c.4394_*4395insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		3191		chr15	TogoVar
EXD1_chr15_41177728_41235757	41199757	T T	TATATAAT others(37): Show TATATAATATATCATATATGTGATATATAATATATCATATATATG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 HG02976.hp1 HG03540.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0014 a0001c0002 a0006c0014	a0001c0002t0014 a0006c0014t0001 a0001c0002t0014 a0006c0014t0001	a0001c0002t0014g0094 a0006c0014t0001g0194 a0001c0002t0014g0094 a0006c0014t0001g0194	2	318	0.0063	44	c.535 others(61): Show c.535-3721_535-3720insCATATATATGATATATTATATATCACAT ATATGATATATTATAT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
EXD1_chr15_41177728_41235757	41199757	T T	TATATCAT others(37): Show TATATCATATGTGATATATAATATATCATATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp2 HG01891.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0155 a0001c0001t0002g0156	2	318	0.0063	44	c.535 others(61): Show c.535-3721_535-3720insGATATATATCATATATATGATATATTAT ATATCACATATGATAT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
EXD3_chr9_137301896_137428162	137328901	A A	AGCTACAC others(37): Show AGCTACACGGGAGCTACACGGGGCTACACGGGAGCTACACGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0018 a0018	a0018c0022 a0018c0022	a0018c0022t0001 a0018c0022t0001	a0018c0022t0001g0038 a0018c0022t0001g0038	1	82	0.0122	44	c.199 others(63): Show c.1999-4759_1999-4758insCTCCCGTGTAGCTCCCGTGTAGCCCC GTGTAGCTCCCGTGTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355548	A A	AGGAGAAA others(37): Show AGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGGAGGAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18747.hp2 HG00423.hp2 NA18747.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0011 a0003c0003 a0011c0011	a0003c0003t0001 a0011c0011t0001 a0003c0003t0001 a0011c0011t0001	a0003c0003t0001g0073 a0011c0011t0001g0055 a0003c0003t0001g0073 a0011c0011t0001g0055	2	82	0.0244	44	c.757 others(59): Show c.757+719_757+720insATCCTCCCTTCCTCCTTCCTCCTTTCTCCT TCCTCCCTTTCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXOC6B_chr2_72170984_72831033	72773120	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0076 a0001c0002t0009g0076	1	104	0.0096	44	c.114 others(63): Show c.114-31652_114-31651insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92974540	G G	GCTCGTCT others(37): Show GCTCGTCTCCCTCTCCCCACGGTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	288	0.0035	44	c.195 others(61): Show c.1953+324_1953+325insCACGGTCTCCCTCTCCCTCTCCCTCTCC CTCGTCTCCCTCTCCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOSC7_chr3_44971244_45016471	45009642	T T	TGGTTCAA others(37): Show TGGTTCAAGTGATTCTGCCTCAGCTTCCCGAGTAGCTGGGATTGC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	340	0.0029	44	c.772 others(61): Show c.772-1592_772-1549dupGGTTCAAGTGATTCTGCCTCAGCTTCCC GAGTAGCTGGGATTGC	EXOSC7	ENSG00000075914.13	transcript	ENST00000265564.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
EXT1_chr8_117789490_118116826	117955568	A A	ATATATAT others(37): Show ATATATATTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0168 a0001c0001t0023g0168	1	190	0.0053	44	c.963 others(65): Show c.963-118368_963-118367insAAAAAAAAAAAAAAAAAAAAAAAA GAAAGAAAAAGAAATATATA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar

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Search Results (Total: 4475 hits)