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
STX11_chr6_144145517_144196939	144195657	A A	AAACAAAC others(10): Show AAACAAACAAAAAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	376	0.0027	17	c.81 others(28): Show c.8166_*8167insAACAAACAAAAAAACAC	STX11	ENSG00000135604.11	transcript	ENST00000367568.5	protein_coding		3719		chr6	TogoVar
STX12_chr1_27768219_27829443	27799477	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG03453.hp1 HG02145.hp2 HG02572.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0042 a0001c0001t0003g0052 a0001c0001t0004g0018 a0001c0001t0003g0042 a0001c0001t0003g0052 a0001c0001t0004g0018	3	123	0.0244	17	c.289 others(34): Show c.289-2190_289-2189insTTTTTTTTTTTTTTTTT	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
STX17_chr9_99901654_99979534	99904413	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG02145.hp1 others(9): Show HG00642.hp2 HG01192.hp1 HG02145.hp1 HG02486.hp1 HG02602.hp1 HG03540.hp2 NA18945.hp1 NA18994.hp2 NA19062.hp1 NA19077.hp2 NA19079.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0002c0002t0003	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0075 others(8): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0001t0002g0107 a0001c0001t0003g0009 a0001c0001t0003g0020 a0001c0001t0003g0064 a0001c0001t0003g0093 a0001c0001t0022g0001 a0002c0002t0003g0066	12	30	0.4000	17	c.-23 others(28): Show c.-2356_-2355insTTTTTTTTTTTTTTTTT	STX17	ENSG00000136874.11	transcript	ENST00000259400.11	protein_coding		2240		chr9	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	213	0.0047	17	c.205 others(34): Show c.205+3503_205+3504insATATATATATTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	213	0.0047	17	c.205 others(34): Show c.205+3503_205+3504insATATATATATATTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0296 a0002c0002t0002g0296	1	213	0.0047	17	c.205 others(34): Show c.205+3503_205+3504insATATATATATATATTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX3_chr11_59750376_59810878	59772974	A A	AAACACAC others(10): Show AAACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01361.hp1 others(2): Show HG00639.hp2 HG01243.hp1 HG01361.hp1 HG01993.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0163 a0001c0001t0002g0168 others(1): Show a0001c0001t0002g0025 a0001c0001t0002g0163 a0001c0001t0002g0168 a0001c0001t0002g0173	5	75	0.0667	17	c.31- others(30): Show c.31-236_31-235insACACACACACACACACA	STX3	ENSG00000166900.17	transcript	ENST00000337979.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
STX4_chr16_31028558_31045164	31043033	T T	TGTGCAGC others(10): Show TGTGCAGCGGGGGGCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	260	0.0038	17	c.31 others(28): Show c.3137_*3138insGTGCAGCGGGGGGCCAC	STX4	ENSG00000103496.15	transcript	ENST00000313843.8	protein_coding		2870		chr16	TogoVar
STX6_chr1_180967725_181027870	181021726	T T	TACAAAGT others(10): Show TACAAAGTGCAGTTGAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0311 a0001c0002t0002g0311	1	348	0.0029	17	c.35+ others(30): Show c.35+896_35+912dupCTTCAACTGCACTTTGT	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding	1/7			chr1	TogoVar
STX6_chr1_180967725_181027870	181023050	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03492.hp1 HG03139.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0043 a0001c0002t0002g0013 a0001c0001t0001g0043 a0001c0002t0002g0013	2	259	0.0077	17	c.-37 others(26): Show c.-378_-377insAGAGAGAGAGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		181		chr1	TogoVar
STX8_chr17_9245471_9580820	9288675	A A	AAAATAAA others(10): Show AAAATAAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0131 a0001c0004t0001g0131	1	177	0.0056	17	c.644 others(36): Show c.644-38031_644-38030insATTTATTTATTTTATTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9356960	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA20129.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0041 a0001c0003t0001g0004 a0001c0003t0001g0041	2	31	0.0645	17	c.643 others(36): Show c.643+21575_643+21591dupAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9429961	A A	ATTATATA others(10): Show ATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	179	0.0056	17	c.542 others(36): Show c.542-51309_542-51308insATATATAATATATATAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9471031	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp2 HG02109.hp2 HG01255.hp1 HG01255.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0001t0001 a0001c0001t0002 a0001c0004t0002	a0001c0001t0001g0163 a0001c0001t0002g0098 a0001c0004t0002g0111 a0001c0001t0001g0163 a0001c0001t0002g0098 a0001c0004t0002g0111	3	26	0.1154	17	c.541 others(36): Show c.541+20781_541+20797dupAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9504973	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03239.hp1 HG03704.hp2 HG02258.hp1 HG03239.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0099 a0001c0001t0002g0166 a0001c0002t0001g0010 a0001c0001t0001g0099 a0001c0001t0002g0166 a0001c0002t0001g0010	3	11	0.2727	17	c.448 others(30): Show c.448+48_448+64dupTTTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9535424	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18966.hp2 HG00323.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0169 a0001c0003t0001g0066 a0001c0001t0001g0169 a0001c0003t0001g0066	2	3	0.6667	17	c.323 others(34): Show c.323+9731_323+9747dupAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9546590	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01167.hp2 HG02572.hp1 others(9): Show HG01081.hp2 HG01167.hp2 HG02572.hp1 HG02615.hp2 HG02735.hp1 HG02738.hp2 HG03704.hp2 HG03942.hp2 NA18957.hp1 NA19004.hp2 NA19007.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0161 a0001c0001t0002g0166 a0001c0002t0001g0044 others(9): Show a0001c0001t0001g0161 a0001c0001t0002g0166 a0001c0002t0001g0044 a0001c0002t0002g0022 a0001c0003t0001g0001 a0001c0003t0001g0006 a0001c0003t0002g0019 a0001c0004t0001g0080 a0001c0004t0001g0082 a0001c0004t0001g0084 a0001c0004t0001g0155 a0001c0004t0002g0088	12	127	0.0945	17	c.213 others(34): Show c.213-1309_213-1308insAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01255.hp2 others(2): Show HG01074.hp2 HG01167.hp1 HG01255.hp2 HG02074.hp1 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0109 a0001c0001t0001g0163 a0001c0001t0002g0085 others(2): Show a0001c0001t0001g0109 a0001c0001t0001g0163 a0001c0001t0002g0085 a0001c0001t0002g0159 a0001c0004t0001g0162	5	11	0.4545	17	c.118 others(34): Show c.118-2233_118-2232insAAAAATATATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03017.hp2 HG01515.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0014 a0001c0004t0002g0180 a0001c0001t0001g0014 a0001c0004t0002g0180	2	8	0.2500	17	c.118 others(34): Show c.118-2233_118-2232insAAAAAAATATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108771594	C C	CATATATA others(10): Show CATATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0259 a0001c0002t0001g0259	1	251	0.0040	17	c.439 others(34): Show c.439-1063_439-1047dupAATATATATGATATATA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771664	C C	CATATATA others(10): Show CATATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0253	1	261	0.0038	17	c.439 others(32): Show c.439-996_439-980dupATAAATATATATGATAT	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0273 a0004c0004t0005g0273	1	106	0.0094	17	c.287 others(36): Show c.287+29601_287+29617dupTTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121312446	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03225.hp2 HG01928.hp2 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0005 a0001c0001t0001 a0004c0004t0005	a0001c0001t0001g0048 a0004c0004t0005g0273 a0001c0001t0001g0048 a0004c0004t0005g0273	2	55	0.0364	17	c.211 others(36): Show c.2111-6013_2111-5997dupTTTTTTTTTTTTTTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121421361	A A	ATTAGCTG others(10): Show ATTAGCTGAAAGTCTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG01255.hp2 others(4): Show HG00639.hp1 HG01123.hp2 HG01255.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0027 a0001c0001t0007 a0001c0001t0027	a0001c0001t0007g0262 a0001c0001t0007g0266 a0001c0001t0007g0267 others(4): Show a0001c0001t0007g0262 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0007g0283 a0001c0001t0027g0276	7	288	0.0243	17	c.22 others(28): Show c.2267_*2283dupAGCTGAAAGTCTTTGTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	27/27	2284	INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5_chr6_147199417_147395473	147273195	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	122	0.0082	17	c.715 others(34): Show c.715-4873_715-4872insAAAAAAAAAAAAAAAAA	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP6_chr14_24804454_25055147	24882378	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01169.hp1 HG01169.hp2 HG00741.hp2 HG01169.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0087 a0001c0001t0002 a0001c0001t0087	a0001c0001t0002g0022 a0001c0001t0002g0109 a0001c0001t0087g0157 a0001c0001t0002g0022 a0001c0001t0002g0109 a0001c0001t0087g0157	3	11	0.2727	17	c.155 others(36): Show c.155-25238_155-25222dupTTTTTTTTTTTTTTTTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24931134	A A	AAAAAAAA others(10): Show AAAAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0175 a0001c0001t0089g0175	1	175	0.0057	17	c.154 others(36): Show c.154+43530_154+43531insGTTTTTGTTTTTTTTTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24931134	A A	AAACAAAA others(10): Show AAACAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02145.hp1 HG02559.hp1 others(11): Show HG02135.hp1 HG02145.hp1 HG02559.hp1 HG02572.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG04184.hp2 NA18970.hp2 NA18998.hp1 NA19085.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 others(10): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 a0001c0001t0021 a0001c0001t0034 a0001c0001t0038 a0001c0001t0048 a0001c0001t0050 a0001c0001t0063 a0001c0001t0065 a0001c0001t0084 a0001c0001t0090 a0001c0001t0097	a0001c0001t0003g0104 a0001c0001t0010g0129 a0001c0001t0017g0143 others(11): Show a0001c0001t0003g0104 a0001c0001t0010g0129 a0001c0001t0017g0143 a0001c0001t0021g0131 a0001c0001t0034g0152 a0001c0001t0034g0153 a0001c0001t0038g0185 a0001c0001t0048g0001 a0001c0001t0050g0069 a0001c0001t0063g0145 a0001c0001t0065g0144 a0001c0001t0084g0183 a0001c0001t0090g0184 a0001c0001t0097g0203	14	188	0.0745	17	c.154 others(36): Show c.154+43530_154+43531insGTTTTTGTTTTTTTGTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24945139	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19077.hp1 HG02970.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0046 a0001c0001t0010 a0001c0001t0046	a0001c0001t0010g0046 a0001c0001t0046g0233 a0001c0001t0010g0046 a0001c0001t0046g0233	2	38	0.0526	17	c.154 others(36): Show c.154+29509_154+29525dupAAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24976852	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0186 a0001c0001t0088g0186	1	52	0.0192	17	c.-32 others(34): Show c.-32-2019_-32-2003dupAAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	25002359	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18984.hp1 NA18961.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0105 a0001c0001t0012 a0001c0001t0105	a0001c0001t0012g0238 a0001c0001t0105g0240 a0001c0001t0012g0238 a0001c0001t0105g0240	2	144	0.0139	17	c.-32 others(36): Show c.-32-27526_-32-27510dupAAAAAAAAAAAAAAAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar
STYXL1_chr7_75991342_76053000	75993952	A A	ACCCCTCC others(10): Show ACCCCTCCCACCCGTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	353	0.0028	17	c.24 others(28): Show c.2499_*2515dupGGGACGGGTGGGAGGGG	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding		2389		chr7	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01106.hp1 others(19): Show HG00099.hp1 HG00140.hp1 HG01106.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01891.hp1 HG02145.hp2 HG02280.hp1 HG02698.hp1 HG02717.hp1 HG02895.hp2 HG03139.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03704.hp2 HG04228.hp2 NA19065.hp2 NA19074.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0005t0002	a0001c0001t0001g0170 a0001c0001t0003g0004 a0001c0001t0003g0005 others(19): Show a0001c0001t0001g0170 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0002t0002g0064 a0001c0002t0002g0085 a0001c0002t0002g0141 a0001c0002t0006g0163 a0001c0003t0001g0344 a0001c0003t0001g0345 a0001c0005t0002g0129 a0001c0005t0002g0142	22	34	0.6471	17	c.308 others(34): Show c.308-3980_308-3979insTTTTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76026192	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	8	0.1250	17	c.165 others(34): Show c.165+2433_165+2449dupTTTTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	3/8			chr7	TogoVar
STYXL1_chr7_75991342_76053000	76042390	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18951.hp2 HG00609.hp2 NA18951.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0002c0004t0001 a0001c0002t0002 a0002c0004t0001	a0001c0002t0002g0145 a0002c0004t0001g0181 a0001c0002t0002g0145 a0002c0004t0001g0181	2	23	0.0870	17	c.-5+ others(32): Show c.-5+5255_-5+5271dupAAAAAAAAAAAAAAAAA	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	1/8			chr7	TogoVar
SUCLA2_chr13_47937656_48006273	47979324	T T	TCATATCC others(10): Show TCATATCCTTTGCAGGGA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	356	0.0028	17	c.535 others(34): Show c.535-5949_535-5933dupTCCCTGCAAAGGATATG	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	4/10			chr13	TogoVar
SUCLG2_chr3_67369719_67659612	67422472	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	276	0.0036	17	c.106 others(38): Show c.1063-21622_1063-21621insTTTTTTTTTTTTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02300.hp2 HG02723.hp2 others(4): Show HG02027.hp1 HG02300.hp2 HG02723.hp2 HG02738.hp2 NA18990.hp1 NA18993.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0030 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0180 a0001c0001t0001g0229 a0001c0001t0002g0141	7	41	0.1707	17	c.106 others(38): Show c.1063-21639_1063-21623dupTTTTTTTTTTTTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102638196	T T	TATATATG others(10): Show TATATATGATCATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00733.hp2 HG00735.hp1 others(19): Show HG00558.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01169.hp2 HG01175.hp1 HG01258.hp1 HG01358.hp2 HG02056.hp2 HG02135.hp2 HG02886.hp2 HG03139.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03704.hp1 NA18952.hp2 NA18983.hp2 NA18986.hp1 NA19004.hp2 NA19056.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0031	a0001c0001t0001g0071 a0001c0001t0001g0112 a0001c0001t0001g0199 others(19): Show a0001c0001t0001g0071 a0001c0001t0001g0112 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0233 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0004g0113 a0001c0001t0006g0216 a0001c0001t0006g0225 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0006g0251 a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0006g0261 a0001c0001t0006g0263 a0001c0001t0012g0237 a0001c0001t0012g0262 a0001c0001t0031g0258	22	239	0.0921	17	c.80 others(28): Show c.8041_*8042insATATATGATCATATAAA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4662		chr10	TogoVar
SUFU_chr10_102498972_102638535	102638197	A A	ATATATGA others(10): Show ATATATGATCATATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	266	0.0038	17	c.80 others(28): Show c.8042_*8043insTATATGATCATATAAAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4663		chr10	TogoVar
SUGT1_chr13_52647836_52705909	52659814	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0012 a0001c0001t0010g0012	1	110	0.0091	17	c.328 others(32): Show c.328+566_328+567insATATATATATATATATT	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SULF2_chr20_47652406_47790481	47656887	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0001 a0003c0022t0001	a0003c0022t0001g0336 a0003c0022t0001g0336	1	133	0.0075	17	c.14 others(28): Show c.1458_*1474dupAAAAAAAAAAAAAAAAA	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding		518		chr20	TogoVar
SULF2_chr20_47652406_47790481	47731182	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01981.hp1 HG00738.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0029 a0001c0001t0003g0020 a0001c0001t0003g0029	2	343	0.0058	17	c.415 others(34): Show c.415+5520_415+5521insAAAAAAAAAAAAAAAAA	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47784198	A A	AACAGGCA others(10): Show AACAGGCAGGGGACAGAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03453.hp2 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0356 a0001c0001t0001g0357	2	362	0.0055	17	c.-10 others(36): Show c.-101+1128_-101+1144dupATCTGTCCCCTGCCTGT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	1/20			chr20	TogoVar
SULT2B1_chr19_48547172_48604423	48571211	A A	ATTTATTT others(10): Show ATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02723.hp2 HG02965.hp1 others(2): Show HG02486.hp1 HG02723.hp2 HG02965.hp1 HG03195.hp1 HG03209.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0003 a0001c0006 others(1): Show a0001c0002 a0001c0003 a0001c0006 a0006c0017	a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0006c0017t0001	a0001c0002t0001g0048 a0001c0002t0001g0119 a0001c0003t0001g0047 others(2): Show a0001c0002t0001g0048 a0001c0002t0001g0119 a0001c0003t0001g0047 a0001c0006t0001g0045 a0006c0017t0001g0030	5	182	0.0275	17	c.72- others(32): Show c.72-4727_72-4726insATTTATTTATTTATTTT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(10): Show CTTTTCTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0214 a0001c0005t0001g0214	1	82	0.0122	17	c.214 others(32): Show c.214+280_214+281insCTTTCTTTTTTTTTTTT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48603883	G G	GGTGCAGG others(10): Show GGTGCAGGCGTGCGTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0351 a0008c0015t0001g0351	1	374	0.0027	17	c.44 others(28): Show c.4477_*4478insGTGCAGGCGTGCGTCAC	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding		4461		chr19	TogoVar
SUMF1_chr3_4356146_4472269	4382336	G G	GCACACAC others(10): Show GCACACACACACCACACA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp2 HG02809.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0363 a0001c0001t0005g0135 a0001c0001t0005g0363	2	305	0.0066	17	c.955 others(34): Show c.955-5948_955-5947insTGTGTGGTGTGTGTGTG	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	7/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4420185	C C	CATCAACT others(10): Show CATCAACTCTAGAAAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18522.hp1 NA20300.hp1 HG02572.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0305 a0001c0001t0001g0368 a0001c0001t0004g0304 a0001c0001t0001g0305 a0001c0001t0001g0368 a0001c0001t0004g0304	3	390	0.0077	17	c.520 others(30): Show c.520-56_520-40dupATTTTTCTAGAGTTGAT	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	3/8			chr3	TogoVar
SUMO1_chr2_202201182_202243597	202206056	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	12	0.0833	17	c.11 others(28): Show c.1196_*1197insTTTTTTTTTTTTTTTTT	SUMO1	ENSG00000116030.17	transcript	ENST00000392246.7	protein_coding		125		chr2	TogoVar

Search by Variant

Search

Search Results