Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEMA3E_chr7_83358238_83654139	83389701	C C	CACATATA others(22): Show CACATATATACACGTATATATTACATGTAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG01261.hp2 others(12): Show HG00408.hp1 HG00597.hp2 HG01261.hp2 HG01934.hp1 HG02056.hp2 HG02129.hp1 HG02523.hp2 HG03195.hp1 HG03654.hp2 NA18939.hp1 NA18946.hp1 NA18961.hp1 NA19060.hp1 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0015 a0001c0003 a0001c0005 a0001c0015	a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 a0001c0003t0016 a0001c0005t0013 a0001c0015t0005	a0001c0003t0001g0077 a0001c0003t0001g0108 a0001c0003t0001g0117 others(12): Show a0001c0003t0001g0077 a0001c0003t0001g0108 a0001c0003t0001g0117 a0001c0003t0001g0140 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0002g0096 a0001c0003t0002g0152 a0001c0003t0005g0022 a0001c0003t0010g0208 a0001c0003t0010g0222 a0001c0003t0016g0204 a0001c0005t0013g0054 a0001c0005t0013g0057 a0001c0015t0005g0027	15	226	0.0664	29	c.166 others(48): Show c.1668-2680_1668-2652dupATACATGTAATATATACGTGTATATA TGT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83389744	T T	TATATATT others(22): Show TATATATTACATGTATACATATATACACGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0120 a0001c0002t0014g0120	1	226	0.0044	29	c.166 others(48): Show c.1668-2695_1668-2694insGCGTGTATATATGTATACATGTAATA TAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83389773	T T	TATATATT others(22): Show TATATATTACATGTATACATATATACACGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0110 a0001c0002t0008g0110	1	226	0.0044	29	c.166 others(48): Show c.1668-2724_1668-2723insGCGTGTATATATGTATACATGTAATA TAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89450660	G G	GGAAAAAA others(22): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0096 a0001c0001t0010g0096	1	370	0.0027	29	c.-24 others(48): Show c.-244+5227_-244+5228insTTTTTTTTTTTTTTTTTTTTTTTTTT TTC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89461700	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0174 a0001c0003t0001g0175	2	370	0.0054	29	c.-30 others(48): Show c.-309-5748_-309-5747insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5B_chr3_122904082_123032763	122935686	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	290	0.0035	29	c.474 others(46): Show c.474+3738_474+3739insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	5/22			chr3	TogoVar
SEMA6D_chr15_47712505_47779228	47758419	T T	TTTCAGAA others(22): Show TTTCAGAACTGCAAGTGACTTGCAGTTCAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0170 a0001c0001t0009g0170	1	388	0.0026	29	c.-54 others(46): Show c.-54-1326_-54-1325insTTCAGAACTGCAAGTGACTTGCAGTTCA G	SEMA6D	ENSG00000137872.17	transcript	ENST00000536845.7	protein_coding	1/18			chr15	TogoVar
SENP1_chr12_48037897_48111079	48078317	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	394	0.0025	29	c.553 others(46): Show c.553-3525_553-3524insTATATATATATATATATATATATATATA T	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0048 a0001c0001t0074g0048	1	306	0.0033	29	c.188 others(48): Show c.1885-8827_1885-8826insAAAAAAAAATATATATATATATATAT ATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0053 a0001c0001t0047g0053	1	306	0.0033	29	c.188 others(48): Show c.1885-8827_1885-8826insAAATATATATATATATATATATATAT ATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP6_chr6_75596880_75723281	75705924	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0044 a0002c0003t0003g0044	1	362	0.0028	29	c.271 others(48): Show c.2716+2852_2716+2853insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	19/23			chr6	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03041.hp1 HG02109.hp2 HG03041.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0013 a0003c0007t0006 a0001c0001t0013 a0003c0007t0006	a0001c0001t0013g0184 a0003c0007t0006g0167 a0001c0001t0013g0184 a0003c0007t0006g0167	2	362	0.0055	29	c.43 others(40): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding		1678		chr6	TogoVar
SEPTIN10_chr2_109537799_109618966	109610095	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02280.hp1 HG00639.hp1 HG02280.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0004 a0005c0005t0004 a0001c0001t0004 a0005c0005t0004	a0001c0001t0004g0239 a0005c0005t0004g0219 a0001c0001t0004g0239 a0005c0005t0004g0219	2	404	0.0050	29	c.30+ others(44): Show c.30+3702_30+3703insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	1/10			chr2	TogoVar
SEPTIN12_chr16_4772606_4793345	4784600	A A	ACTCTACA others(22): Show ACTCTACAAAAAATACACGGAAACGCCAAC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0177	1	422	0.0024	29	c.375 others(44): Show c.375-533_375-532insGTTGGCGTTTCCGTGTATTTTTTGTAGAG	SEPTIN12	ENSG00000140623.14	transcript	ENST00000268231.13	protein_coding	4/9			chr16	TogoVar
SEPTIN2_chr2_241310925_241359027	241338771	T T	TATTATAT others(22): Show TATTATATTTATATTATTTATATATAATAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	408	0.0025	29	c.594 others(44): Show c.594+983_594+984insTATATTTATATTATTTATATATAATACAT	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SERAC1_chr6_158104519_158173262	158169437	T T	TATTATAT others(22): Show TATTATATATAATATATTGTATATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0188 a0001c0003t0009g0188	1	366	0.0027	29	c.-13 others(40): Show c.-1300_-1299insTATATAATATACAATATATTATATATAAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1176		chr6	TogoVar
SERHL2_chr22_42548956_42579382	42559229	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0331 a0002c0002t0001g0331	1	432	0.0023	29	c.533 others(44): Show c.533+799_533+800insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	366	0.0027	29	c.37 others(40): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18957.hp2 HG01168.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0055 a0001c0001t0002g0069	2	366	0.0055	29	c.760 others(42): Show c.760-23_760-22insATATATATATATATATTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01496.hp2 NA20805.hp1 others(1): Show HG01256.hp1 HG01496.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0063 others(1): Show a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0078	4	366	0.0109	29	c.760 others(42): Show c.760-23_760-22insATATATATATATATATATTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	366	0.0027	29	c.760 others(42): Show c.760-23_760-22insATATATATATATATATATATATTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC2_chr1_31408213_31439678	31414421	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0365 a0002c0002t0001g0365	1	376	0.0027	29	c.39+ others(44): Show c.39+1117_39+1118insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9			chr1	TogoVar
SERINC5_chr5_80133727_80261048	80139594	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0260 a0001c0001t0046g0260	1	286	0.0035	29	c.40 others(40): Show c.4068_*4069insCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	12/12	4068		chr5	TogoVar
SERPINB12_chr18_63537369_63574329	63559043	T T	TTTCTTTC others(22): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	402	0.0025	29	c.304 others(44): Show c.304-519_304-518insTTCTTTCTTTCTCTTCTTTCTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101136404	A A	AAGAAAGA others(22): Show AAGAAAGAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	436	0.0023	29	c.108 others(46): Show c.1088-596_1088-595insGAAAGAAGAAAGAAAGAAAGAAAGAAAG A	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINF2_chr17_1737871_1760265	1752860	C C	CTGGCAGT others(22): Show CTGGCAGTGGAGCTGAGTCAGAGCTGTCCT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	445	0.0023	29	c.106 others(44): Show c.1063+71_1063+99dupTGGCAGTGGAGCTGAGTCAGAGCTGTCCT	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SETBP1_chr18_44675888_45073510	44787860	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	140	0.0071	29	c.487 others(48): Show c.487-81350_487-81349insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD3_chr14_99392748_99485859	99417988	T T	TCTCTACC others(22): Show TCTCTACCCAGACTGATTTTTACTTAAAGA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	290	0.0035	29	c.676 others(46): Show c.676-4083_676-4055dupTCTTTAAGTAAAAATCAGTCTGGGTAGA G	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	290	0.0035	29	c.676 others(46): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETDB2_chr13_49439274_49500003	49441226	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0275 a0001c0002t0020g0275	1	406	0.0025	29	c.-39 others(40): Show c.-3973_-3972insATATATATATATATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3047		chr13	TogoVar
SETMAR_chr3_4298369_4322265	4300420	G G	GAAAGTTT others(22): Show GAAAGTTTTTATATCAGATGTGTACTCAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG03540.hp1 HG02145.hp2 HG02630.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0055 a0001c0003t0001g0019 a0001c0003t0001g0055	3	448	0.0067	29	c.-29 others(40): Show c.-2951_-2950insAAAGTTTTTATATCAGATGTGTACTCAAA	SETMAR	ENSG00000170364.13	transcript	ENST00000358065.5	protein_coding		2948		chr3	TogoVar
SEZ6L_chr22_26164462_26388596	26211804	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0205 a0002c0005t0005g0205	1	240	0.0042	29	c.94+ others(46): Show c.94+42066_94+42067insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03139.hp2 HG02717.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0005 a0001c0006 a0002c0005	a0001c0006t0002 a0002c0005t0001 a0001c0006t0002 a0002c0005t0001	a0001c0006t0002g0094 a0002c0005t0001g0235 a0001c0006t0002g0094 a0002c0005t0001g0235	2	240	0.0083	29	c.279 others(48): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	344	0.0029	29	c.495 others(44): Show c.495+246_495+274dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SF3B3_chr16_70518816_70582668	70532357	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	342	0.0029	29	c.571 others(44): Show c.571-112_571-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SFI1_chr22_31491536_31623588	31612388	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	322	0.0031	29	c.249 others(46): Show c.2490+548_2490+549insTATATATATATATATATATATATATATA T	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612396	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	322	0.0031	29	c.249 others(46): Show c.2490+556_2490+557insTATATATATATATATATATATATATATA T	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19005.hp1 NA19011.hp2 others(1): Show HG03225.hp2 NA19005.hp1 NA19011.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0220 a0001c0001t0001g0227 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0243	4	328	0.0122	29	c.124 others(46): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	328	0.0031	29	c.-13 others(48): Show c.-131+4819_-131+4847dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131795997	G G	GGGGGAGG others(22): Show GGGGGAGGGGAGGGGAGGGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	318	0.0031	29	c.253 others(48): Show c.2535-1160_2535-1159insGAGGGGGAGGGGAGGGGAGGGGAGGG GAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131795997	G G	GGGGGGAG others(22): Show GGGGGGAGGGGAGGGGAGGGGAGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0006 a0006	a0006c0024 a0006c0024	a0006c0024t0001 a0006c0024t0001	a0006c0024t0001g0131 a0006c0024t0001g0131	1	318	0.0031	29	c.253 others(48): Show c.2535-1177_2535-1176insGAGGGGAGGGGAGGGGAGAGGGGGAG GGG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131796019	A A	AGGGGGAG others(22): Show AGGGGGAGGGGAGGGGAGGGGAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02056.hp2 NA19084.hp2 HG00673.hp2 HG02056.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0165 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0165	3	318	0.0094	29	c.253 others(48): Show c.2535-1137_2535-1136insGGGAGAGGGGGGAGGGGAGGGGAGGG GAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131796025	A A	AGGGGAGG others(22): Show AGGGGAGGGGAGGGGAGGGGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0001 a0000c0005t0001	a0000c0005t0001g0199 a0000c0005t0001g0199	1	318	0.0031	29	c.253 others(48): Show c.2535-1137_2535-1136insGGGAGAGGGGGAGGGGGAGGGGAGGG GAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131796047	A A	AGGGGGAG others(22): Show AGGGGGAGGGGAGGGGAGGGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18993.hp2 HG03927.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0146 a0001c0001t0001g0154	2	318	0.0063	29	c.253 others(48): Show c.2535-1112_2535-1111insGAGAGGAGAGGGGGGAGGGGAGGGGA GGG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFXN5_chr2_72937036_73076712	73032162	T T	TCATCCTA others(22): Show TCATCCTAGGGTGTCAAGAGTTCGACGGGA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02451.hp1 HG02723.hp1 others(5): Show HG01169.hp1 HG02451.hp1 HG02723.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0170 a0001c0001t0002g0175 others(4): Show a0001c0001t0002g0001 a0001c0001t0002g0170 a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185	8	250	0.0320	29	c.249 others(46): Show c.249+8663_249+8691dupTCCCGTCGAACTCTTGACACCCTAGGAT G	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	3/13			chr2	TogoVar
SFXN5_chr2_72937036_73076712	73047243	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	250	0.0040	29	c.172 others(46): Show c.172-6313_172-6312insGTATATATATATATATATATATATATAT A	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCD_chr5_156322164_156772788	156604726	A A	ATATATGT others(22): Show ATATATGTATATATACATATATACACATTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG01070.hp1 others(68): Show HG00558.hp1 HG00639.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01169.hp1 HG01258.hp2 HG01261.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18953.hp2 NA18964.hp1 NA18966.hp2 NA18985.hp1 NA18990.hp1 NA19002.hp2 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19057.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0033 a0001c0001t0038 a0001c0001t0039 a0001c0001t0042 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0015 a0001c0002t0022 a0001c0002t0023 a0001c0002t0028 a0001c0002t0054 a0001c0002t0056 a0001c0002t0060 a0001c0002t0061 a0001c0004t0001 a0001c0004t0017 a0001c0006t0018 a0002c0003t0003 a0002c0003t0017	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0023 others(68): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0003g0013 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0056 a0001c0001t0003g0119 a0001c0001t0003g0136 a0001c0001t0005g0047 a0001c0001t0006g0038 a0001c0001t0006g0066 a0001c0001t0009g0036 a0001c0001t0009g0049 a0001c0001t0009g0142 a0001c0001t0012g0010 a0001c0001t0014g0048 a0001c0001t0014g0055 a0001c0001t0014g0132 a0001c0001t0016g0120 a0001c0001t0020g0017 a0001c0001t0022g0064 a0001c0001t0033g0141 a0001c0001t0038g0044 a0001c0001t0039g0004 a0001c0001t0042g0065 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0087 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0098 a0001c0002t0002g0102 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0004g0079 a0001c0002t0004g0088 a0001c0002t0004g0104 a0001c0002t0004g0106 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0008g0076 a0001c0002t0011g0051 a0001c0002t0011g0090 a0001c0002t0015g0078 a0001c0002t0015g0081 a0001c0002t0015g0086 a0001c0002t0022g0029 a0001c0002t0023g0071 a0001c0002t0028g0034 a0001c0002t0054g0073 a0001c0002t0056g0096 a0001c0002t0060g0074 a0001c0002t0061g0103 a0001c0004t0001g0009 a0001c0004t0017g0007 a0001c0006t0018g0145 a0002c0003t0003g0140 a0002c0003t0017g0014	71	150	0.4733	29	c.502 others(46): Show c.502+9715_502+9743dupTATACATATATACACATTTTATATGTAT A	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCZ_chr8_14079845_15243431	14146890	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0058 a0001c0001t0054g0058	1	102	0.0098	29	c.547 others(48): Show c.547+17689_547+17690insATTATTATTTTTTTTTTTTTTTTTTT TTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14146890	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0027 a0002c0002t0004g0027	1	102	0.0098	29	c.547 others(48): Show c.547+17689_547+17690insATTATTATTATTATTTTTTTTTTTTT TTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	5/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14427041	T T	TGAATGAA others(22): Show TGAATGAATGAATGAATGGAGTGAATGAAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19043.hp1 NA19240.hp1 HG04204.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0060 a0001c0001t0061 a0001c0001t0021 a0001c0001t0060 a0001c0001t0061	a0001c0001t0021g0015 a0001c0001t0060g0071 a0001c0001t0061g0049 a0001c0001t0021g0015 a0001c0001t0060g0071 a0001c0001t0061g0049	3	102	0.0294	29	c.235 others(50): Show c.235-102838_235-102837insCTTCATTCACTCCATTCATTCATT CATTC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar

Search by Variant

Search

Search Results (Total: 6085 hits)