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
STX2_chr12_130784600_130844250	130818185	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00597.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0082 a0002c0002t0002g0008 a0002c0002t0002g0082	2	214	0.0093	24	c.205 others(41): Show c.205+3503_205+3504insATATATATATATATATATATATTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	213	0.0047	24	c.205 others(41): Show c.205+3480_205+3503dupATATATATATATATATATATATAT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX8_chr17_9245471_9580820	9339070	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	130	0.0077	24	c.643 others(43): Show c.643+39481_643+39482insTTTTTTTTTTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9445517	T T	TGGGGGGG others(17): Show TGGGGGGGGTGGGGGAGGGGGTTGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03098.hp1 HG02683.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0147 a0001c0003t0001g0033 a0001c0001t0002g0147 a0001c0003t0001g0033	2	3	0.6667	24	c.541 others(43): Show c.541+46311_541+46312insCCAACCCCCTCCCCCACCCCCCCC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9504973	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0123 a0001c0004t0001g0123	1	9	0.1111	24	c.448 others(37): Show c.448+64_448+65insTTTTTTTTTTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9527185	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0042 a0001c0003t0001g0042	1	2	0.5000	24	c.323 others(43): Show c.323+17986_323+17987insTTTTTTTTTTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9535424	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01346.hp2 HG01981.hp1 others(8): Show HG01258.hp1 HG01346.hp2 HG01981.hp1 HG02145.hp1 HG02148.hp2 HG02273.hp2 HG03471.hp1 HG03942.hp2 HG04228.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001	a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0055 others(8): Show a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0002g0045 a0001c0002t0002g0058 a0001c0003t0001g0004 a0001c0003t0001g0053 a0001c0003t0001g0060 a0001c0004t0001g0155	11	12	0.9167	24	c.323 others(41): Show c.323+9724_323+9747dupAAAAAAAAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108771796	A A	ATCATATA others(17): Show ATCATATATAAATATATATGATATC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	330	0.0030	24	c.439 others(39): Show c.439-868_439-867insCATATATAAATATATATGATATCT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5L_chr3_120903205_121429761	120984632	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	106	0.0094	24	c.287 others(43): Show c.287+29617_287+29618insTTTTTTTTTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121105395	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01069.hp1 others(21): Show HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG02559.hp1 HG02683.hp1 HG02886.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp2 HG04228.hp1 NA18954.hp2 NA18980.hp2 NA18991.hp2 NA19007.hp1 NA19030.hp2 NA19056.hp2 NA19065.hp2 NA19066.hp2 NA19078.hp2 NA20129.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0017 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0004c0004t0005	a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0255 others(21): Show a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0288 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0290 a0001c0001t0017g0284 a0001c0001t0017g0285 a0001c0001t0026g0265 a0001c0001t0030g0254 a0001c0001t0031g0286 a0004c0004t0005g0270 a0004c0004t0005g0273 a0004c0004t0005g0274 a0004c0004t0005g0275	24	269	0.0892	24	c.471 others(41): Show c.471-9526_471-9503dupTAAATAAATAAATAAATAAATAAA	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121218086	A A	ATATATAG others(17): Show ATATATAGTATAATATATAATATAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0129 a0001c0006t0003g0129	1	288	0.0035	24	c.957 others(41): Show c.957-4900_957-4877dupTAATATACTATATAGTATAATATA	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121312446	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0278 a0001c0001t0007g0278	1	54	0.0185	24	c.211 others(43): Show c.2111-6020_2111-5997dupTTTTTTTTTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0142 a0002c0002t0008g0142	1	174	0.0057	24	c.248 others(41): Show c.248+7410_248+7411insTGTGTGTGTGTGTGTGTGCGCGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0015 a0003c0005t0015	a0003c0005t0015g0183 a0003c0005t0015g0183	1	174	0.0057	24	c.248 others(41): Show c.248+7410_248+7411insTGTGTGTGTGTGTGTGTGTGCGCG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147337192	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18983.hp2 HG02965.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0029 a0001c0001t0003g0053 a0001c0001t0001g0029 a0001c0001t0003g0053	2	268	0.0075	24	c.214 others(43): Show c.2147-1964_2147-1963insCACACACACACACACACACACACA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147337214	C C	CACACACA others(17): Show CACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02109.hp1 HG02258.hp2 others(6): Show HG02004.hp1 HG02109.hp1 HG02258.hp2 HG02293.hp1 HG02922.hp1 HG03098.hp2 HG03453.hp2 HG03927.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0002 a0002c0002t0008 others(1): Show a0001c0001t0013 a0002c0002t0002 a0002c0002t0008 a0002c0002t0030	a0001c0001t0013g0177 a0002c0002t0002g0147 a0002c0002t0002g0154 others(6): Show a0001c0001t0013g0177 a0002c0002t0002g0147 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0008g0173 a0002c0002t0008g0174 a0002c0002t0008g0181 a0002c0002t0008g0311 a0002c0002t0030g0023	9	199	0.0452	24	c.214 others(43): Show c.2147-1964_2147-1963insCACACACACACACACACACACAAA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0122 a0002c0002t0002g0122	1	127	0.0079	24	c.72 others(35): Show c.7262_*7263insGAGAGAGAGAGAGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP5_chr6_147199417_147395473	147392017	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG00738.hp2 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0134 a0002c0002t0002g0136 a0002c0002t0002g0134 a0002c0002t0002g0136	2	128	0.0156	24	c.72 others(35): Show c.7262_*7263insGAGAGAGAGAGTGTGTGTGTGTGT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding		1545		chr6	TogoVar
STXBP6_chr14_24804454_25055147	24810865	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0218 a0001c0001t0100g0218	1	22	0.0455	24	c.18 others(35): Show c.1820_*1843dupCACACACACACACACACACACACA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	6/6	1843		chr14	TogoVar
STXBP6_chr14_24804454_25055147	24945139	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03540.hp1 HG02818.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0088 a0001c0001t0018 a0001c0001t0088	a0001c0001t0018g0016 a0001c0001t0088g0186 a0001c0001t0018g0016 a0001c0001t0088g0186	2	38	0.0526	24	c.154 others(43): Show c.154+29502_154+29525dupAAAAAAAAAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02896.hp2 HG03195.hp2 others(10): Show HG01928.hp2 HG02896.hp2 HG03195.hp2 NA18939.hp2 NA18952.hp2 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA19004.hp1 NA19085.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0004t0001 a0002c0004t0008	a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 others(10): Show a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0002t0002g0047 a0001c0002t0002g0137 a0002c0004t0001g0189 a0002c0004t0001g0191 a0002c0004t0001g0192 a0002c0004t0001g0197 a0002c0004t0001g0198 a0002c0004t0008g0199	13	25	0.5200	24	c.308 others(41): Show c.308-3980_308-3979insTTTTTTTTTTTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
SUCLA2_chr13_47937656_48006273	47943764	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18747.hp2 NA18945.hp2 others(1): Show HG01943.hp1 NA18747.hp2 NA18945.hp2 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0235 a0002c0002t0001g0237 others(1): Show a0002c0002t0001g0228 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0240	4	106	0.0377	24	c.131 others(41): Show c.1318-320_1318-319insTATATATATATATATATATATATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLA2_chr13_47937656_48006273	47943766	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG02723.hp1 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0246 a0002c0002t0001g0250 a0002c0002t0001g0246 a0002c0002t0001g0250	2	22	0.0909	24	c.131 others(41): Show c.1318-322_1318-321insTATATATATATATATATATATATA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02615.hp1 HG02683.hp1 others(2): Show HG02040.hp1 HG02615.hp1 HG02683.hp1 HG04204.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0001g0158 others(2): Show a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0001g0158 a0001c0001t0002g0136 a0001c0001t0003g0151	5	39	0.1282	24	c.106 others(45): Show c.1063-21646_1063-21623dupTTTTTTTTTTTTTTTTTTTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102518519	G G	GTCTATCT others(17): Show GTCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19090.hp1 HG01175.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0111 a0001c0002t0002g0002 a0001c0001t0001g0111 a0001c0002t0002g0002	2	91	0.0220	24	c.317 others(41): Show c.317+9222_317+9245dupCTATCTATCTATCTATCTATCTAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SUFU_chr10_102498972_102638535	102638106	A A	ATATATGA others(17): Show ATATATGATCATATAAATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	262	0.0038	24	c.79 others(35): Show c.7951_*7952insTATATGATCATATAAATATATATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4572		chr10	TogoVar
SUGCT_chr7_40130005_40865763	40242933	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	2	0.5000	24	c.576 others(41): Show c.576+5208_576+5209insATATATATATATATATATATTTTT	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGCT_chr7_40130005_40865763	40324240	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	8	0.1250	24	c.816 others(41): Show c.816+7388_816+7389insTATATATATATATATATATATATA	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUGP1_chr19_19271033_19325509	19297400	A A	ATTCTGGG others(17): Show ATTCTGGGCAGGAGCACTTCTGGCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0051 a0001c0004t0003g0051	1	293	0.0034	24	c.888 others(37): Show c.888-57_888-56insGGCCAGAAGTGCTCCTGCCCAGAA	SUGP1	ENSG00000105705.16	transcript	ENST00000247001.10	protein_coding	7/13			chr19	TogoVar
SUGP1_chr19_19271033_19325509	19297400	A A	ATTCTGGG others(17): Show ATTCTGGGCAGGAGCAGTTCTGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00741.hp2 others(34): Show HG00099.hp1 HG00642.hp2 HG00741.hp2 HG01099.hp1 HG01109.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02055.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG04184.hp1 HG06807.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0013 a0002c0003 others(1): Show a0001c0004 a0001c0013 a0002c0003 a0002c0014	a0001c0004t0003 a0001c0013t0003 a0002c0003t0003 others(1): Show a0001c0004t0003 a0001c0013t0003 a0002c0003t0003 a0002c0014t0003	a0001c0004t0003g0014 a0001c0004t0003g0050 a0001c0004t0003g0185 others(30): Show a0001c0004t0003g0014 a0001c0004t0003g0050 a0001c0004t0003g0185 a0001c0004t0003g0187 a0001c0004t0003g0188 a0001c0004t0003g0189 a0001c0004t0003g0190 a0001c0004t0003g0192 a0001c0004t0003g0193 a0001c0004t0003g0201 a0001c0004t0003g0202 a0001c0004t0003g0203 a0001c0004t0003g0204 a0001c0004t0003g0205 a0001c0013t0003g0293 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0049 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0184 a0002c0003t0003g0186 a0002c0003t0003g0194 a0002c0003t0003g0195 a0002c0003t0003g0197 a0002c0003t0003g0198 a0002c0003t0003g0199 a0002c0003t0003g0200 a0002c0003t0003g0206 a0002c0003t0003g0207 a0002c0003t0003g0294 a0002c0014t0003g0196	37	329	0.1125	24	c.888 others(37): Show c.888-80_888-57dupGGCCAGAACTGCTCCTGCCCAGAA	SUGP1	ENSG00000105705.16	transcript	ENST00000247001.10	protein_coding	7/13			chr19	TogoVar
SUGT1_chr13_52647836_52705909	52659814	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0085 a0001c0001t0050g0085	1	110	0.0091	24	c.328 others(39): Show c.328+566_328+567insATATATATATATATATATATTTTT	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SUGT1_chr13_52647836_52705909	52701790	T T	TACACACA others(17): Show TACACACACAAAGACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0136 a0001c0001t0049g0136	1	305	0.0033	24	c.13 others(37): Show c.13955_*13956insACACACACAAAGACACACACACAC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		882		chr13	TogoVar
SUGT1_chr13_52647836_52705909	52701802	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00738.hp2 HG01074.hp2 others(27): Show HG00609.hp1 HG00738.hp2 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG02015.hp2 HG02040.hp1 HG02165.hp1 HG02523.hp2 HG02698.hp1 HG02698.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 NA18950.hp1 NA18951.hp1 NA18960.hp2 NA18993.hp2 NA18997.hp1 NA19043.hp1 NA19059.hp1 NA19086.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0031 a0001c0001t0037 a0001c0001t0051 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0068 a0001c0001t0072 a0001c0001t0102	a0001c0001t0002g0006 a0001c0001t0002g0051 a0001c0001t0002g0086 others(25): Show a0001c0001t0002g0006 a0001c0001t0002g0051 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0003g0001 a0001c0001t0003g0106 a0001c0001t0007g0022 a0001c0001t0007g0071 a0001c0001t0013g0007 a0001c0001t0014g0127 a0001c0001t0014g0131 a0001c0001t0031g0014 a0001c0001t0037g0103 a0001c0001t0051g0154 a0001c0001t0058g0123 a0001c0001t0060g0020 a0001c0001t0062g0074 a0001c0001t0068g0047 a0001c0001t0072g0007 a0001c0001t0102g0090	30	40	0.7500	24	c.13 others(37): Show c.13967_*13968insACACACACACACACACACACACAC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		894		chr13	TogoVar
SULF1_chr8_69487847_69665912	69526798	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	75	0.0133	24	c.-13 others(45): Show c.-134+24851_-134+24874dupAAGGAAGGAAGGAAGGAAGGAAGG	SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
SULF2_chr20_47652406_47790481	47731182	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	342	0.0029	24	c.415 others(41): Show c.415+5520_415+5521insAAAAAAAAAAAAAAAAAAAAAAAA	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47731187	C C	CTCTCTCT others(17): Show CTCTCTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	120	0.0083	24	c.415 others(41): Show c.415+5515_415+5516insAAAAAAAAAAAAAAAAAAGAGAGA	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20			chr20	TogoVar
SULT1C4_chr2_108372954_108393989	108382815	C C	CTCGCTTG others(17): Show CTCGCTTGAACACAGGAGGCAGAGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	324	0.0031	24	c.394 others(39): Show c.394-276_394-253dupCGCTTGAACACAGGAGGCAGAGGT	SULT1C4	ENSG00000198075.10	transcript	ENST00000272452.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(17): Show CTTTTCTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02145.hp2 HG02723.hp2 others(3): Show HG01256.hp2 HG02145.hp2 HG02723.hp2 HG03130.hp1 NA19030.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0001c0007 a0001c0010 others(1): Show a0001c0006 a0001c0007 a0001c0010 a0003c0012	a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 others(1): Show a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0003c0012t0001	a0001c0006t0001g0045 a0001c0006t0001g0061 a0001c0007t0001g0057 others(3): Show a0001c0006t0001g0045 a0001c0006t0001g0061 a0001c0007t0001g0057 a0001c0010t0001g0092 a0001c0010t0001g0113 a0003c0012t0001g0014	6	87	0.0690	24	c.214 others(39): Show c.214+280_214+281insCTTTCTTTTTTTTTTTTTTTTTTT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48602704	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	180	0.0056	24	c.32 others(35): Show c.3298_*3299insAAAAAAAAAAAAATATATATATAT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding		3282		chr19	TogoVar
SULT4A1_chr22_43819509_43867513	43831288	C C	CGGCAGCT others(17): Show CGGCAGCTGCCCCCCGAGATGTGTG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	289	0.0035	24	c.604 others(41): Show c.604-2091_604-2090insCACACATCTCGGGGGGCAGCTGCC	SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	5/6			chr22	TogoVar
SULT4A1_chr22_43819509_43867513	43862431	A A	ACGCGCCC others(17): Show ACGCGCCCGCGCCCGCGCCCGCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0047 a0001c0001t0018g0047	1	203	0.0049	24	c.-73 others(31): Show c.-73_-50dupGGCGCGGGCGCGGGCGCGGGCGCG	SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	1/7	50		chr22	TogoVar
SULT6B1_chr2_37162820_37193670	37193643	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03579.hp1 HG03098.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0001 a0002c0013t0001 a0002c0002t0001 a0002c0013t0001	a0002c0002t0001g0028 a0002c0013t0001g0062 a0002c0002t0001g0028 a0002c0013t0001g0062	2	345	0.0058	24	c.-50 others(35): Show c.-5004_-5003insCCTTCTTCTTCTTCTTCTTCTTCT	SULT6B1	ENSG00000138068.12	transcript	ENST00000535679.6	protein_coding		4974		chr2	TogoVar
SUMO2_chr17_75160586_75187959	75162278	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	18	0.0556	24	c.60 others(35): Show c.6037_*6060dupATATATATATATATATATATATAT	SUMO2	ENSG00000188612.12	transcript	ENST00000420826.7	protein_coding		3307		chr17	TogoVar
SUMO3_chr21_44800617_44823062	44811001	T T	TGCACACA others(17): Show TGCACACACCCACATATGCACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02572.hp2 others(1): Show HG02055.hp1 HG02145.hp2 HG02572.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0093 a0001c0001t0006g0090 a0001c0001t0006g0091 others(1): Show a0001c0001t0004g0093 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092	4	390	0.0103	24	c.151 others(41): Show c.151-1907_151-1884dupGTGTGTGCATATGTGGGTGTGTGC	SUMO3	ENSG00000184900.16	transcript	ENST00000332859.11	protein_coding	2/3			chr21	TogoVar
SUN5_chr20_32978775_33009433	33001563	T T	TTTCTTTC others(17): Show TTTCTTTCTTTCTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	376	0.0027	24	c.212 others(39): Show c.212-286_212-285insGAAGAAAGAAAGAGAAAGAAAGAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	214	0.0047	24	c.-14 others(35): Show c.-1456_-1455insTATATATATATATATATTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	214	0.0047	24	c.-14 others(35): Show c.-1456_-1455insTATATATATATATTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATTTTT others(17): Show ATATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	214	0.0047	24	c.-14 others(35): Show c.-1456_-1455insTATTTTTTTTTTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	214	0.0047	24	c.-14 others(35): Show c.-1456_-1455insTTTTTTTTTTTTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT16H_chr14_21346476_21389019	21375226	C C	CTGGTCTT others(17): Show CTGGTCTTGAACTCCTGACCTCAAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	306	0.0033	24	c.67- others(39): Show c.67-1820_67-1797dupCTTGAGGTCAGGAGTTCAAGACCA	SUPT16H	ENSG00000092201.10	transcript	ENST00000216297.7	protein_coding	1/25			chr14	TogoVar

Search by Variant

Search

Search Results