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
SSX2_chrX_52691896_52712178	52708950	C C	CAAGAGCA others(23): Show CAAGAGCAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0061 a0001c0001t0005g0061	1	98	0.0102	30	c.-18 others(41): Show c.-1860_-1859insTCTTTCTTTCTTTCTTTCTTTCTTGCTCTT	SSX2	ENSG00000241476.9	transcript	ENST00000337502.6	protein_coding		1773		chrX	TogoVar
SSX4_chrX_48378539_48398347	48381415	T T	TTTCCCTT others(23): Show TTTCCCTTCCCTTCCCTTCCCTTCCTTTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	76	0.0132	30	c.-21 others(41): Show c.-2170_-2169insTTCCCTTCCCTTCCCTTCCCTTCCTTTCCC	SSX4	ENSG00000268009.6	transcript	ENST00000595689.3	protein_coding		2123		chrX	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 NA18989.hp1 HG01071.hp1 NA18989.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0134 a0003c0003t0001g0032 a0001c0001t0001g0134 a0003c0003t0001g0032	2	146	0.0137	30	c.58 others(41): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST13_chr22_40819535_40861639	40821758	A A	ATATATAT others(23): Show ATATATATATATATACGTATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	331	0.0030	30	c.47 others(41): Show c.4779_*4780insCGTATATATATATACGTATATATATATATA	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		2776		chr22	TogoVar
ST13_chr22_40819535_40861639	40821813	T T	TACGTATA others(23): Show TACGTATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03098.hp2 HG03453.hp1 others(1): Show HG02145.hp1 HG03098.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0015g0197	4	233	0.0172	30	c.47 others(41): Show c.4724_*4725insGTGTGTATATATATATATATATATATACGT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		2721		chr22	TogoVar
ST3GAL1_chr8_133449848_133576887	133452834	G G	GCCACCCC others(23): Show GCCACCCCCACCCCCACCCCCACCCCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	77	0.0130	30	c.69 others(41): Show c.6929_*6930insGGGTGGGGGTGGGGGTGGGGGTGGGGGTGG	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding		2013		chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133540874	T T	TATAGACA others(23): Show TATAGACATATATATAGACACATATATAGAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0034 a0001c0008t0034	a0001c0008t0034g0132 a0001c0008t0034g0132	1	329	0.0030	30	c.-42 others(49): Show c.-429+4899_-429+4900insGTCTATATATGTGTCTATATATATGT CTAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133540924	T T	TATATAGA others(23): Show TATATAGACATATATATAGACATATATAGAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	295	0.0034	30	c.-42 others(49): Show c.-429+4849_-429+4850insGTCTATATATGTCTATATATATGTCT ATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541060	T T	TATAGACA others(23): Show TATAGACATATATATAGACATATATATAGAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0073 a0003c0006t0073	a0003c0006t0073g0139 a0003c0006t0073g0139	1	169	0.0059	30	c.-42 others(49): Show c.-429+4713_-429+4714insGTCTATATATATGTCTATATATATGT CTAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATAGA others(23): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0253 a0001c0002t0010g0253	1	45	0.0222	30	c.-42 others(49): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTCTCTCTCTCT ATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0294 a0001c0002t0010g0294	1	45	0.0222	30	c.-42 others(49): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTATATATATAT ATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATATA others(23): Show TATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0023 a0001c0011t0023	a0001c0011t0023g0069 a0001c0011t0023g0069	1	45	0.0222	30	c.-42 others(49): Show c.-429+4653_-429+4654insCTCTCTCTCTCTATATATATATATAT ATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133562841	C C	CCTTCCTT others(23): Show CCTTCCTTCCTTCCTTCCTTTCTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0024 a0001c0003t0013g0024	1	156	0.0064	30	c.-58 others(49): Show c.-582+8851_-582+8852insAAAGAAAAAGAAAGGAAGGAAGGAAG GAAG	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	1/9			chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18947.hp2 NA18951.hp2 others(1): Show HG02165.hp2 NA18947.hp2 NA18951.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0047 a0001c0001t0004 a0001c0001t0016 a0001c0001t0047	a0001c0001t0004g0019 a0001c0001t0004g0034 a0001c0001t0016g0008 others(1): Show a0001c0001t0004g0019 a0001c0001t0004g0034 a0001c0001t0016g0008 a0001c0001t0047g0038	4	95	0.0421	30	c.-10 others(53): Show c.-1003-10708_-1003-10707insAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76183851	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0054 a0001c0003t0005g0054	1	25	0.0400	30	c.18+ others(49): Show c.18+108989_18+108990insATATATATATATATATATATATATAT ATAT	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC4_chr9_127902886_127922041	127913595	C C	CAAATAAA others(23): Show CAAATAAAAATATAAATACAAAAAAAAGAAA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	426	0.0023	30	c.199 others(45): Show c.199-945_199-916dupTTTCTTTTTTTTGTATTTATATTTTTATTT	ST6GALNAC4	ENSG00000136840.19	transcript	ENST00000335791.10	protein_coding	3/5			chr9	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0197 a0002c0002t0019g0197	1	88	0.0114	30	c.75 others(41): Show c.7568_*7569insTATATATATATATATATATATATATATATT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	88	0.0114	30	c.75 others(41): Show c.7568_*7569insTATATATATATATATATATATATATATTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	88	0.0114	30	c.75 others(41): Show c.7568_*7569insTATATATATATATATATATATATATTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0191 a0002c0006t0010g0191	1	88	0.0114	30	c.75 others(41): Show c.7568_*7569insTATATATATATATATATATATTTTTTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST7_chr7_116948501_117235176	117027463	A A	AAAAGTAA others(23): Show AAAAGTAAAGTAAAGTAAAGTAAAGTAAAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(15): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00642.hp2 HG01081.hp1 HG01358.hp2 HG01943.hp2 HG02071.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02965.hp1 HG03453.hp2 HG04228.hp1 NA18747.hp1 NA19004.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0103 a0001c0001t0001g0105 others(15): Show a0001c0001t0001g0074 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0180 a0001c0001t0001g0184	18	31	0.5806	30	c.152 others(49): Show c.152-72291_152-72262dupAGTAAAGTAAAGTAAAGTAAAGTAAA GTAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117097880	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	129	0.0078	30	c.152 others(47): Show c.152-1853_152-1852insATATATATATATATATATATATATATAT AT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46710411	C C	CTTTCTGT others(23): Show CTTTCTGTCTTTTTCTTTCTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18951.hp2 NA19012.hp2 others(1): Show HG02155.hp2 NA18951.hp2 NA19012.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0115 others(1): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0115 a0001c0001t0125	a0001c0001t0006g0054 a0001c0001t0009g0308 a0001c0001t0115g0329 others(1): Show a0001c0001t0006g0054 a0001c0001t0009g0308 a0001c0001t0115g0329 a0001c0001t0125g0335	4	301	0.0133	30	c.132 others(47): Show c.132-5748_132-5747insAAGAAAGAGAGAGAAAGAAAAAGACAGA AA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46710413	T T	TTCTGTCT others(23): Show TTCTGTCTTTTTCTTTCTCTCTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp2 HG01975.hp1 others(9): Show HG00673.hp2 HG01109.hp2 HG01975.hp1 HG02074.hp2 HG02132.hp1 NA18942.hp2 NA18945.hp2 NA18980.hp1 NA18990.hp1 NA18990.hp2 NA19068.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0009 a0001c0001t0029 others(5): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0029 a0001c0001t0034 a0001c0001t0036 a0001c0001t0045 a0001c0001t0087 a0001c0002t0005	a0001c0001t0006g0030 a0001c0001t0006g0154 a0001c0001t0006g0182 others(9): Show a0001c0001t0006g0030 a0001c0001t0006g0154 a0001c0001t0006g0182 a0001c0001t0009g0314 a0001c0001t0009g0337 a0001c0001t0029g0147 a0001c0001t0034g0175 a0001c0001t0036g0197 a0001c0001t0036g0219 a0001c0001t0045g0316 a0001c0001t0087g0049 a0001c0002t0005g0186	12	224	0.0536	30	c.132 others(47): Show c.132-5750_132-5749insAAAAGAAAGAGAGAGAAAGAAAAAGACA GA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17374764	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02572.hp2 HG02630.hp2 others(4): Show HG02083.hp2 HG02572.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp1 NA19060.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0190 others(4): Show a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0190 a0001c0001t0001g0239 a0001c0001t0002g0281 a0001c0001t0004g0126 a0001c0001t0013g0201	7	200	0.0350	30	c.291 others(49): Show c.291-15165_291-15164insGTGTATATATATATATATATATATAT ATAT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
STAC_chr3_36375504_36553007	36448157	A A	AATTTTAT others(23): Show AATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	277	0.0036	30	c.388 others(47): Show c.388+4519_388+4548dupTTTTATTTTATTTTATTTTATTTTATTT TA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	84	0.0119	30	c.688 others(47): Show c.688-1119_688-1118insAAAAAAAAAATATATATATATATATATA TA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0033 a0001c0002t0008g0033	1	84	0.0119	30	c.688 others(47): Show c.688-1119_688-1118insAAAAAATATATATATATATATATATATA TA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136376016	C C	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG02135.hp2 others(9): Show HG00099.hp1 HG00639.hp1 HG02135.hp2 HG02145.hp2 HG02615.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG03239.hp2 HG03834.hp2 HG04199.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0017 a0001c0001t0001 a0001c0001t0015 a0001c0001t0017	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0024 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0015g0069 a0001c0001t0017g0041	12	19	0.6316	30	c.237 others(49): Show c.2370+1614_2370+1643dupATTTTATTTTATTTTATTTTATTTTA TTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	23/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136463832	C C	CATATATA others(23): Show CATATATACATACATATATAAATATATATTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0111 a0001c0001t0004g0107 a0001c0001t0004g0111	2	238	0.0084	30	c.131 others(49): Show c.1313+1019_1313+1048dupAAATATATATTTATATATGTATGTAT ATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	13/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02809.hp2 NA18522.hp2 HG02486.hp1 HG02809.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0173 a0002c0003t0002g0184 a0002c0003t0002g0186 a0002c0003t0002g0173 a0002c0003t0002g0184 a0002c0003t0002g0186	3	117	0.0256	30	c.902 others(47): Show c.902+1989_902+1990insGTGTGTGTGTATATATATATATATATAT AT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0154 a0001c0002t0005g0154	1	115	0.0087	30	c.902 others(47): Show c.902+1989_902+1990insGTGTGTGTATATATATATATATATATAT AT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	115	0.0087	30	c.902 others(47): Show c.902+1989_902+1990insGTGTATATATATATATATATATATATAT AT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03927.hp1 NA18964.hp1 others(1): Show HG00140.hp2 HG03927.hp1 NA18964.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0005 a0001c0001t0001 a0001c0006t0005	a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0053 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0006t0005g0155	4	118	0.0339	30	c.902 others(47): Show c.902+1989_902+1990insGTATATATATATATATATATATATATAT AT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136541538	T T	TCACACAC others(23): Show TCACACACACACACACACTCACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	90	0.0111	30	c.471 others(45): Show c.471+580_471+581insTGTGTGTGTGTGAGTGTGTGTGTGTGTGTG	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136705476	A A	AATTGTAG others(23): Show AATTGTAGCTCCCATAATTCCCACGTATTGT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	238	0.0042	30	c.-84 others(49): Show c.-84+46689_-84+46718dupACAATACGTGGGAATTATGGGAGCTA CAAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAG2_chrX_123956706_124107656	124069222	C C	CATGTTCA others(23): Show CATGTTCAATTCTAATTCCCTAATTGAGAGG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	274	0.0036	30	c.235 others(47): Show c.2358+569_2358+598dupGTTCAATTCTAATTCCCTAATTGAGAGG AT	STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	24/34		INFO_REALIGN_3_PRIME	chrX	TogoVar
STAM2_chr2_152111801_152180763	152159094	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01361.hp1 HG01496.hp1 others(18): Show HG01070.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG02071.hp1 HG02145.hp2 HG02155.hp1 HG02572.hp1 HG02622.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03579.hp2 HG03704.hp1 NA18956.hp1 NA18966.hp2 NA18973.hp1 NA19006.hp2 NA19065.hp2 NA19080.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044	a0001c0001t0003g0183 a0001c0001t0003g0234 a0001c0001t0003g0235 others(15): Show a0001c0001t0003g0183 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0249 a0001c0001t0004g0004 a0001c0001t0004g0016 a0001c0001t0004g0207 a0001c0001t0012g0159 a0001c0001t0012g0165 a0001c0001t0021g0171 a0001c0001t0023g0208 a0001c0001t0024g0233 a0001c0001t0027g0158 a0001c0001t0027g0162 a0001c0001t0036g0209 a0001c0001t0042g0161 a0001c0001t0043g0157 a0001c0001t0044g0180	21	215	0.0977	30	c.41- others(45): Show c.41-8866_41-8865insATATATATATATATATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG06807.hp2 HG02622.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0009 a0001c0001t0016	a0001c0001t0009g0041 a0001c0001t0016g0029 a0001c0001t0009g0041 a0001c0001t0016g0029	2	244	0.0082	30	c.41- others(45): Show c.41-8882_41-8881insGTATATATATATATATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152173361	C C	CACATATA others(23): Show CACATATATATACATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp1 HG01243.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0046 a0001c0001t0003 a0001c0001t0046	a0001c0001t0003g0179 a0001c0001t0046g0176 a0001c0001t0003g0179 a0001c0001t0046g0176	2	274	0.0073	30	c.40+ others(45): Show c.40+2212_40+2241dupATACATATATATATATATGTATATATATGT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18960.hp1 NA19083.hp1 others(1): Show NA18522.hp2 NA18960.hp1 NA19083.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0041 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0041 a0001c0002t0003 a0001c0003t0010	a0001c0001t0002g0081 a0001c0001t0041g0310 a0001c0002t0003g0061 others(1): Show a0001c0001t0002g0081 a0001c0001t0041g0310 a0001c0002t0003g0061 a0001c0003t0010g0062	4	173	0.0231	30	c.203 others(47): Show c.203+1050_203+1051insTATATATATATATATATATATATATATA CA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STARD13_chr13_33098137_33290755	33163611	T T	TATATATA others(23): Show TATATATATATATAAAACATATATATATAAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0162 a0003c0006t0001g0162	1	298	0.0034	30	c.323 others(47): Show c.323+1696_323+1725dupGTTATATATATATGTTTTATATATATAT AT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	3/13			chr13	TogoVar
STARD13_chr13_33098137_33290755	33163658	C C	CATATATA others(23): Show CATATATATATAACATATATATAAAACATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	200	0.0050	30	c.323 others(47): Show c.323+1649_323+1678dupATATGTTTTATATATATGTTATATATAT AT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	3/13			chr13	TogoVar
STARD7_chr2_96179859_96213827	96197066	C C	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02145.hp2 HG02698.hp1 HG01358.hp1 HG02145.hp2 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0014 a0002c0002t0002 a0001c0001t0001 a0001c0006t0014 a0002c0002t0002	a0001c0001t0001g0085 a0001c0006t0014g0241 a0002c0002t0002g0236 a0001c0001t0001g0085 a0001c0006t0014g0241 a0002c0002t0002g0236	3	140	0.0214	30	c.291 others(47): Show c.291-1547_291-1518dupATTTTATTTTATTTTATTTTATTTTATT TT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD9_chr15_42570606_42725998	42626324	C C	CTCCTCTT others(23): Show CTCCTCTTCCTCTTCTTCCTCTTCCTCTTCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG03516.hp1 others(1): Show HG02922.hp1 HG02965.hp1 HG03516.hp1 NA19240.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0003 a0003c0004t0002 a0002c0003t0003 a0003c0004t0002	a0002c0003t0003g0034 a0002c0003t0003g0037 a0002c0003t0003g0039 others(1): Show a0002c0003t0003g0034 a0002c0003t0003g0037 a0002c0003t0003g0039 a0003c0004t0002g0158	4	146	0.0274	30	c.235 others(47): Show c.235-8511_235-8482dupTTCCTCTTCTTCCTCTTCCTCTTCTTCC TC	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STAR_chr8_38137700_38155952	38142491	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	4	0.2500	30	c.17 others(41): Show c.1752_*1781dupCACACACACACACACACACACACACACACA	STAR	ENSG00000147465.12	transcript	ENST00000276449.9	protein_coding		208		chr8	TogoVar
STAT2_chr12_56336597_56365107	56345522	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	248	0.0040	30	c.210 others(47): Show c.2102+623_2102+624insATATATATATATATATATATATATATAT AT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	31	0.0323	30	c.210 others(47): Show c.2102+621_2102+622insATATATATATATATATATATATTTTTTT TT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp1 HG04184.hp1 others(5): Show HG01243.hp1 HG02970.hp1 HG04184.hp1 NA18966.hp2 NA18984.hp2 NA18988.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0121 others(5): Show a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0163 a0001c0001t0001g0190	8	38	0.2105	30	c.210 others(47): Show c.2102+621_2102+622insATATATATATATATATATATATATTTTT TT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01433.hp2 HG02071.hp1 others(6): Show HG01175.hp2 HG01433.hp2 HG02071.hp1 HG02300.hp1 HG04184.hp2 HG04228.hp1 NA18946.hp1 NA18984.hp1 NA19065.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0008c0011t0001	a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0110 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0001g0110 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0104 a0001c0001t0008g0147 a0008c0011t0001g0094	9	39	0.2308	30	c.210 others(47): Show c.2102+621_2102+622insATATATATATATATATATATATATATTT TT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar

Search by Variant

Search

Search Results