Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC16A4_chr1_110357857_110396026	110380058	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0064 a0002c0003t0004g0064	1	167	0.0060	43	c.527 others(58): Show c.527-703_527-702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	5/8			chr1	TogoVar
SLC17A2_chr6_25907754_25935691	25932367	A A	AAAAGAAA others(36): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0180 a0001c0002t0002g0180	1	177	0.0056	43	c.-21 others(54): Show c.-2175_-2174insCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1677		chr6	TogoVar
SLC17A2_chr6_25907754_25935691	25932408	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	378	0.0026	43	c.-22 others(54): Show c.-2216_-2215insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	SLC17A2	ENSG00000112337.11	transcript	ENST00000377850.8	protein_coding		1718		chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792280	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	240	0.0042	43	c.184 others(60): Show c.184-2009_184-2008insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792288	A A	AAAGAAAG others(36): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	146	0.0068	43	c.184 others(60): Show c.184-2017_184-2016insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792291	G G	GAAAGAAA others(36): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	265	0.0038	43	c.184 others(60): Show c.184-2020_184-2019insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792291	G G	GAAAGAAA others(36): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0007 a0002c0004t0011g0007	1	265	0.0038	43	c.184 others(60): Show c.184-2020_184-2019insTTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC22A14_chr3_38277294_38323575	38313685	T T	TGTGCGCG others(36): Show TGTGCGCGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGCGCGCA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0305 a0016c0016t0001g0305	1	60	0.0167	43	c.116 others(58): Show c.1164-41_1164-40insTGCGCGCGCGCGCGCGCGCGTGTGTGTGTG TGTGTGCGCGCAG	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(36): Show TGTGCGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGCGCGCGCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0339 a0016c0016t0001g0339	1	60	0.0167	43	c.116 others(58): Show c.1164-41_1164-40insTGCGCGCGCGCGCGCGCGTGTGTGTGTGTG TGTGCGCGCGCCG	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(36): Show TGTGCGCGCGCGCGCGCGCGTGTGTGTGTGTGTGTGCTGCGCGC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0199 a0003c0003t0002g0199	1	60	0.0167	43	c.116 others(58): Show c.1164-41_1164-40insTGCGCGCGCGCGCGCGCGTGTGTGTGTGTG TGTGCTGCGCGCG	SLC22A14	ENSG00000144671.11	transcript	ENST00000448498.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC22A16_chr6_110419687_110481613	110454844	A A	AATATATA others(36): Show AATATATATAATATATGTTATATTATATATAATATATATATTAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	414	0.0024	43	c.533 others(60): Show c.533+1651_533+1693dupATAATATATATATTATATATAATATAAC ATATATTATATATAT	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC22A18_chr11_2897278_2930246	2921548	G G	GGCCGAGC others(36): Show GGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0100 a0010c0022t0001g0100	1	404	0.0025	43	c.865 others(58): Show c.865-551_865-550insGAGCCTGTCCCACCGAGCCCATCCCCGGGA GCAGCCTGCAGCC	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(36): Show AAGCCTGTCCCACCGAATCCATCCCCGGGAGCAGCCTGCGGCCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG02723.hp1 HG00609.hp2 HG00673.hp2 HG02723.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0007 a0003c0007t0001g0053 a0001c0001t0001g0007 a0003c0007t0001g0053	3	83	0.0361	43	c.865 others(58): Show c.865-535_865-534insATCCATCCCCGGGAGCAGCCTGCGGCCGAG CCTGTCCCACCGA	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(36): Show AAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp1 HG02647.hp2 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0037	2	82	0.0244	43	c.865 others(58): Show c.865-307_865-265dupGAGCAGCCTGCGGCCGAGCCTGTCCCACCG AGCCCATCCCCGG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921568	G G	GTCCATCC others(36): Show GTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0176 a0003c0016t0001g0176	1	352	0.0028	43	c.865 others(58): Show c.865-534_865-533insTCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAA	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10			chr11	TogoVar
SLC22A18_chr11_2897278_2930246	2921835	C C	CGGGAGCA others(36): Show CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02809.hp1 others(9): Show HG00639.hp2 HG02109.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0032 a0002c0020 a0003c0004 others(1): Show a0001c0032 a0002c0020 a0003c0004 a0003c0007	a0001c0032t0001 a0002c0020t0001 a0003c0004t0001 others(1): Show a0001c0032t0001 a0002c0020t0001 a0003c0004t0001 a0003c0007t0001	a0001c0032t0001g0096 a0002c0020t0001g0159 a0002c0020t0001g0274 others(4): Show a0001c0032t0001g0096 a0002c0020t0001g0159 a0002c0020t0001g0274 a0003c0004t0001g0003 a0003c0004t0001g0025 a0003c0007t0001g0003 a0003c0007t0001g0073	12	393	0.0305	43	c.865 others(58): Show c.865-265_865-264insGAGCAGCCTGCGGCCGAGCCTGTCCCACCG AGCCCATCCCTGG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC24A2_chr9_19502455_19794037	19636315	T T	TTTTCTTT others(36): Show TTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0093 a0001c0002t0093	a0001c0002t0093g0183 a0001c0002t0093g0183	1	112	0.0089	43	c.931 others(62): Show c.931-14017_931-14016insGAAAGAAAGAAAGAAAGAAAGAAAGA AAAGAAAAGAAAAGAAA	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC24A2_chr9_19502455_19794037	19636315	T T	TTTTCTTT others(36): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0052 a0001c0015t0052	a0001c0015t0052g0097 a0001c0015t0052g0097	1	112	0.0089	43	c.931 others(62): Show c.931-14017_931-14016insGAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAA	SLC24A2	ENSG00000155886.12	transcript	ENST00000341998.7	protein_coding	2/10			chr9	TogoVar
SLC25A6_chrX_1381152_1397113	1382269	C C	CGTGAGCC others(36): Show CGTGAGCCACCGCGCCTGGTCCCAAAGTGCCGGGATGACAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	194	0.0052	43	c.43 others(54): Show c.4332_*4333insAGCCTGTCATCCCGGCACTTTGGGACCAGGCGCG GTGGCTCAC	SLC25A6	ENSG00000169100.14	transcript	ENST00000381401.11	protein_coding		3882		chrX	TogoVar
SLC26A4_chr7_107655828_107722809	107686405	T T	TTTTCTTT others(36): Show TTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	233	0.0043	43	c.100 others(62): Show c.1002-2626_1002-2625insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	SLC26A4	ENSG00000091137.14	transcript	ENST00000644269.2	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
SLC2A13_chr12_39750025_40111081	39812996	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	8	0.1250	43	c.144 others(64): Show c.1445+17106_1445+17107insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	7/9			chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7826853	C C	CCTTCCTT others(36): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp2 HG02647.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0188 a0001c0003t0001g0329 a0001c0003t0001g0188 a0001c0003t0001g0329	2	221	0.0090	43	c.864 others(58): Show c.864+641_864+642insAAAAAAGAAAGAAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAG	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10			chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7826854	C C	CTTCCTTC others(36): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp1 HG02451.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0192 a0001c0003t0001g0317 a0001c0003t0001g0192 a0001c0003t0001g0317	2	322	0.0062	43	c.864 others(58): Show c.864+640_864+641insAAAGAAAGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAA	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10			chr12	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747505	G G	GGGGGCCA others(36): Show GGGGGCCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	43	c.45 others(54): Show c.4515_*4516insGGGGCCAGGGGGTGAGCAGGGCCTGGTGGAGGTG GGGGGGGGC	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3456		chr20	TogoVar
SLC2A4RG_chr20_63734776_63749050	63747510	C C	CCAGGGGG others(36): Show CCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGGGGGCGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	179	0.0056	43	c.45 others(54): Show c.4520_*4521insCAGGGGGTGAGCAGGGCCTGGTGGAGGTGGGGGG GGGCGGGGG	SLC2A4RG	ENSG00000125520.14	transcript	ENST00000266077.5	protein_coding		3461		chr20	TogoVar
SLC35F3_chr1_233899676_234329511	234325948	A A	AAAGAGGA others(36): Show AAAGAGGAAGAAGAAAGAAGAAGAAGAGGAAGAGGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	158	0.0063	43	c.27 others(54): Show c.2705_*2706insAAGAGGAAGAAGAAAGAAGAAGAAGAGGAAGAGG AAGAAGAAG	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding		1438		chr1	TogoVar
SLC38A1_chr12_46178063_46274043	46210270	T T	TACGGGGC others(36): Show TACGGGGCAACCATGAGGAGATAAACCAGGAGTACAGAATGGTC	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	328	0.0030	43	c.315 others(60): Show c.315-1186_315-1144dupGACCATTCTGTACTCCTGGTTTATCTCC TCATGGTTGCCCCGT	SLC38A1	ENSG00000111371.16	transcript	ENST00000398637.10	protein_coding	5/16			chr12	TogoVar
SLC39A11_chr17_72640949_73097688	72728398	C C	CACCACTG others(36): Show CACCACTGCACTACAGCCTGAGTGACAGAGTGAGACCCTGTCAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02015.hp1 HG02129.hp1 others(1): Show HG00621.hp1 HG02015.hp1 HG02129.hp1 NA19064.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0023 a0001c0001 a0005c0023	a0001c0001t0002 a0001c0001t0003 a0005c0023t0001 a0001c0001t0002 a0001c0001t0003 a0005c0023t0001	a0001c0001t0002g0036 a0001c0001t0002g0147 a0001c0001t0003g0056 others(1): Show a0001c0001t0002g0036 a0001c0001t0002g0147 a0001c0001t0003g0056 a0005c0023t0001g0063	4	178	0.0225	43	c.671 others(60): Show c.671+8209_671+8251dupTTGACAGGGTCTCACTCTGTCACTCAGG CTGTAGTGCAGTGGT	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	7/9			chr17	TogoVar
SLC39A14_chr8_22362278_22427736	22423786	T T	TTCTCTCT others(36): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0098 a0003c0001t0001g0098	1	122	0.0082	43	c.40 others(54): Show c.4088_*4089insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTTC	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding		1051		chr8	TogoVar
SLC39A9_chr14_69393692_69467390	69407302	C C	CCCTTCCT others(36): Show CCCTTCCTTCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	290	0.0034	43	c.96+ others(58): Show c.96+7859_96+7860insCTTCCTTCCCTTCCTTCCCTTCCTTCCTTC CTTCCTTCCTTCC	SLC39A9	ENSG00000029364.12	transcript	ENST00000336643.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
SLC39A9_chr14_69393692_69467390	69409286	G G	GTAGTATA others(36): Show GTAGTATATCATAAGCATTTTCCTTTATTCTTAAAAACTTGTTC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	324	0.0031	43	c.96+ others(58): Show c.96+9826_96+9868dupATATCATAAGCATTTTCCTTTATTCTTAAA AACTTGTTCTAGT	SLC39A9	ENSG00000029364.12	transcript	ENST00000336643.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
SLC45A1_chr1_8313114_8349165	8322331	G G	GGTGGATG others(36): Show GGTGGATGGATGGGTGGTGGGTGGGTGGATGGATGAGTGGGTGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	315	0.0032	43	c.-24 others(60): Show c.-24-1975_-24-1974insGTGGATGGATGGGTGGTGGGTGGGTGGA TGGATGAGTGGGTGA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8			chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8322495	A A	ATTTTCAT others(36): Show ATTTTCATTCTTTATCCTGCTGGGATGTCTCTAGATCCAATCAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0211 a0007c0011t0001g0211	1	386	0.0026	43	c.-24 others(60): Show c.-24-1805_-24-1804insTTCTTTATCCTGCTGGGATGTCTCTAGA TCCAATCATTTTTCA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC5A10_chr17_18947165_19027565	19005528	C C	CAGGCCCA others(36): Show CAGGCCCAGCCCTTCCTCCCATCCCCCATACTTGCTCTGGATCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0144 a0002c0021t0001g0144	1	352	0.0028	43	c.983 others(60): Show c.983-7881_983-7839dupAGGCCCAGCCCTTCCTCCCATCCCCCAT ACTTGCTCTGGATCT	SLC5A10	ENSG00000154025.16	transcript	ENST00000395645.4	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0187 a0002c0003t0001g0187	1	167	0.0060	43	c.-25 others(60): Show c.-25+3156_-25+3157insAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC6A13_chr12_215622_267836	239075	C C	CGTCCACC others(36): Show CGTCCACCCTGTTCCCCTGCCCCTTCAGCCACCTGCTCTACCAT	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	212	0.0047	43	c.479 others(60): Show c.479-1066_479-1065insATGGTAGAGCAGGTGGCTGAAGGGGCAG GGGAACAGGGTGGAC	SLC6A13	ENSG00000010379.16	transcript	ENST00000343164.9	protein_coding	4/14			chr12	TogoVar
SLC6A19_chr5_1196595_1230111	1219296	C C	CCCGGGCG others(36): Show CCCGGGCGTGTGAACAGCTCTGTCCCCGGCCGTGCGTGCAGCCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	455	0.0022	43	c.137 others(60): Show c.1378+196_1379-160dupGTGTGAACAGCTCTGTCCCCGGCCGTGC GTGCAGCCGCCGGGC	SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A5_chr11_20594608_20664285	20647391	A A	ATATATAT others(36): Show ATATATATAACTATATATTCCTATTATATAGTTATATATATAAC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19090.hp2 NA18941.hp1 NA19090.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0046 a0003c0005t0003 a0003c0005t0046	a0003c0005t0003g0034 a0003c0005t0046g0034 a0003c0005t0003g0034 a0003c0005t0046g0034	2	304	0.0066	43	c.207 others(60): Show c.2070+464_2070+465insAACTATATATTCCTATTATATAGTTATA TATATAACTATATAT	SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(36): Show TAGATAGATAGATGATAGATAGATTGATTGATTAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp1 HG01891.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0015 a0001c0001t0007g0183 a0001c0001t0003g0015 a0001c0001t0007g0183	2	97	0.0206	43	c.647 others(62): Show c.647-78627_647-78626insAGATAGATAGATGATAGATAGATTGA TTGATTAGATAGATAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92143375	A A	ATATATAT others(36): Show ATATATATATAAAATATATATATTATATATAATATATGTAATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0058 a0001c0001t0023g0058	1	188	0.0053	43	c.151 others(62): Show c.1513-3601_1513-3600insTAAAATATATATATTATATATAATAT ATGTAATATTATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666118	G G	GCCCCCCC others(36): Show GCCCCCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18946.hp1 NA18952.hp2 others(1): Show NA18941.hp1 NA18946.hp1 NA18952.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0003 a0001c0001t0002 a0001c0001t0003 a0002c0002t0003	a0001c0001t0002g0068 a0001c0001t0002g0087 a0001c0001t0003g0198 others(1): Show a0001c0001t0002g0068 a0001c0001t0002g0087 a0001c0001t0003g0198 a0002c0002t0003g0140	4	142	0.0282	43	c.127 others(60): Show c.1277-261_1277-260insCCCCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLFN14_chr17_35538985_35565819	35561749	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	280	0.0036	43	c.-11 others(54): Show c.-1107_-1106insCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		931		chr17	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(36): Show CTTTTTTTTCTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0004 a0001c0001t0032g0004	1	241	0.0041	43	c.150 others(62): Show c.1502-1576_1502-1575insCTTTTTTTTCTTTTCTTTTTTTTTTT TTTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258292	A A	AGATAGAT others(36): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG04184.hp2 NA19074.hp1 HG00738.hp1 HG04184.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0003 a0001c0001t0001g0009	3	371	0.0081	43	c.-37 others(54): Show c.-3750_-3749insATCTATCTATCTATCTATCTATCTATCTATCTAT CTATCTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3729		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	31	0.0323	43	c.299 others(62): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX9_chr21_44935029_44981973	44973564	T T	TGTGCCCT others(36): Show TGTGCCCTCACCCCGCCCACCCTCTCCAGGGGTTCAGCTCCTGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp2 HG02258.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	286	0.0070	43	c.569 others(58): Show c.569+307_569+308insACCCCGCCCACCCTCTCCAGGGGTTCAGCT CCTGAGTGCCCTC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMAD2_chr18_47803957_47935659	47850451	T T	TTATATAT others(36): Show TTATATATATTATATATTATGTATAATATATATTTTATATATTA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0177 a0001c0001t0177	a0001c0001t0177g0165 a0001c0001t0177g0165	1	275	0.0036	43	c.784 others(58): Show c.784+822_784+823insTAATATATAAAATATATATTATACATAATA TATAATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850643	T T	TATGTATA others(36): Show TATGTATAATATATATTATATATTATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0229 a0001c0001t0229	a0001c0001t0229g0025 a0001c0001t0229g0025	1	290	0.0034	43	c.784 others(58): Show c.784+630_784+631insTATATATATAATATATATATAATATATAAT ATATATTATACAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMARCC1_chr3_47580269_47786893	47671196	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	120	0.0083	43	c.184 others(60): Show c.1840-480_1840-479insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMG6_chr17_2054843_2308785	2114959	T T	TAAAATAA others(36): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0056 a0004c0004t0008g0056	1	94	0.0106	43	c.335 others(64): Show c.3358-29059_3358-29058insTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar

Search by Variant

Search

Search Results