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
ST7_chr7_116948501_117235176	116961555	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	188	0.0053	18	c.151 others(35): Show c.151+7886_151+7903dupTGTGTGTGTGTGTGTGTG	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117031672	A A	ATACACGC others(11): Show ATACACGCATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	188	0.0053	18	c.152 others(37): Show c.152-68088_152-68087insCACGCATATATGTGTGTA	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(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01978.hp1 HG02257.hp1 others(4): Show HG00642.hp2 HG01978.hp1 HG02257.hp1 HG02622.hp2 HG03453.hp2 HG03486.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0055 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0055 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0128	7	188	0.0372	18	c.152 others(35): Show c.152-1870_152-1853dupATATATATATATATATAT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	188	0.0053	18	c.152 others(35): Show c.152-1853_152-1852insATATATATATATATATTT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	188	0.0053	18	c.152 others(35): Show c.152-1853_152-1852insATATATATATATATTTTT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	188	0.0053	18	c.152 others(35): Show c.152-1853_152-1852insATATATATATATTTTTTT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117099046	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	188	0.0053	18	c.152 others(33): Show c.152-714_152-697dupAAAAAAAAAAAAAAAAAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117193150	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02717.hp1 others(4): Show HG02055.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0054 a0001c0001t0001g0059 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0122 a0001c0001t0001g0140	7	188	0.0372	18	c.125 others(37): Show c.1254+2229_1254+2246dupACACACACACACACACAC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA1_chr12_22188391_22339707	22320929	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0153 a0001c0001t0153	a0001c0001t0153g0074 a0001c0001t0153g0074	1	282	0.0036	18	c.236 others(37): Show c.236+13050_236+13067dupTTCTTTCTTTCTTTCTTT	ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	1/4			chr12	TogoVar
ST8SIA3_chr18_57347557_57373931	57356814	G G	GCCTAAGA others(11): Show GCCTAAGATTCCCTCTGAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0007 a0003c0008t0007	a0003c0008t0007g0052 a0003c0008t0007g0052	1	424	0.0024	18	c.303 others(31): Show c.303-98_303-81dupCCTAAGATTCCCTCTGAA	ST8SIA3	ENSG00000177511.6	transcript	ENST00000324000.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46726015	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18962.hp1 NA19063.hp1 others(1): Show NA18944.hp1 NA18962.hp1 NA19063.hp1 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0001c0001t0008 a0001c0001t0114 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0114 a0003c0005t0001	a0001c0001t0004g0328 a0001c0001t0008g0324 a0001c0001t0114g0329 others(1): Show a0001c0001t0004g0328 a0001c0001t0008g0324 a0001c0001t0114g0329 a0003c0005t0001g0053	4	362	0.0111	18	c.132 others(37): Show c.132-21352_132-21351insATATATATATATATATAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17347953	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0277 a0001c0003t0003g0277	1	296	0.0034	18	c.377 others(37): Show c.377+11543_377+11560dupTTTTTTTTTTTTTTTTTT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17374764	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	296	0.0034	18	c.291 others(37): Show c.291-15165_291-15164insGTGTATATATATATATAT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
STAB2_chr12_103582273_103771719	103607461	T T	TGTGCCAT others(11): Show TGTGCCATGTTGGTGTGTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG01071.hp2 others(15): Show HG00544.hp2 HG00558.hp2 HG01071.hp2 HG01978.hp1 HG02129.hp1 HG02148.hp1 HG02300.hp2 HG02683.hp1 HG02683.hp2 HG03834.hp2 NA18965.hp1 NA18982.hp2 NA18989.hp1 NA19000.hp2 NA19054.hp2 NA19070.hp2 NA19085.hp1 NA19088.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0024 a0025 a0042	a0001c0002 a0001c0012 a0001c0015 others(12): Show a0001c0002 a0001c0012 a0001c0015 a0001c0093 a0001c0117 a0002c0005 a0002c0007 a0002c0008 a0002c0017 a0002c0079 a0002c0123 a0007c0010 a0024c0068 a0025c0109 a0042c0090	a0001c0002t0001 a0001c0012t0001 a0001c0015t0001 others(12): Show a0001c0002t0001 a0001c0012t0001 a0001c0015t0001 a0001c0093t0001 a0001c0117t0001 a0002c0005t0001 a0002c0007t0001 a0002c0008t0001 a0002c0017t0001 a0002c0079t0001 a0002c0123t0001 a0007c0010t0001 a0024c0068t0001 a0025c0109t0001 a0042c0090t0001	a0001c0002t0001g0236 a0001c0012t0001g0221 a0001c0015t0001g0230 others(15): Show a0001c0002t0001g0236 a0001c0012t0001g0221 a0001c0015t0001g0230 a0001c0015t0001g0231 a0001c0093t0001g0227 a0001c0117t0001g0232 a0002c0005t0001g0235 a0002c0007t0001g0226 a0002c0008t0001g0220 a0002c0008t0001g0234 a0002c0017t0001g0225 a0002c0079t0001g0233 a0002c0123t0001g0228 a0007c0010t0001g0223 a0007c0010t0001g0224 a0024c0068t0001g0219 a0025c0109t0001g0229 a0042c0090t0001g0222	18	256	0.0703	18	c.331 others(37): Show c.331+12968_331+12969insCGTGCCATGTTGGTGTGT	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	3/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAB2_chr12_103582273_103771719	103756996	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp2 HG03130.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0130 a0001c0002 a0001c0130	a0001c0002t0001 a0001c0130t0001 a0001c0002t0001 a0001c0130t0001	a0001c0002t0001g0138 a0001c0130t0001g0137 a0001c0002t0001g0138 a0001c0130t0001g0137	2	256	0.0078	18	c.698 others(37): Show c.6988-1156_6988-1139dupTATATATATATATATATA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding	63/68		INFO_REALIGN_3_PRIME	chr12	TogoVar
STAC_chr3_36375504_36553007	36437931	G G	GTTATTAT others(11): Show GTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18977.hp1 HG02129.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0170 a0001c0002t0003g0019 a0001c0001t0002g0170 a0001c0002t0003g0019	2	316	0.0063	18	c.112 others(35): Show c.112-5415_112-5398dupATTATTATTATTATTATT	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492027	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 NA19043.hp1 HG00735.hp2 HG01175.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0187 a0001c0001t0001g0205 a0001c0001t0001g0208	3	316	0.0095	18	c.688 others(35): Show c.688-1123_688-1122insTATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492029	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG04184.hp2 HG02886.hp2 HG04184.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0143 a0003c0004t0001g0069 a0001c0001t0001g0143 a0003c0004t0001g0069	2	316	0.0063	18	c.688 others(35): Show c.688-1121_688-1120insTATATATATATATATATA	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(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	316	0.0032	18	c.688 others(35): Show c.688-1119_688-1118insAAAAAAAAAATATATATA	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(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	316	0.0032	18	c.688 others(35): Show c.688-1119_688-1118insAAAAAAAATATATATATA	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(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	316	0.0032	18	c.688 others(35): Show c.688-1119_688-1118insAAAAAATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0012 a0001c0002t0003g0012	1	316	0.0032	18	c.688 others(35): Show c.688-1119_688-1118insAATATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	316	0.0032	18	c.688 others(35): Show c.688-1101_688-1084dupATATATATATATATATAT	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136354754	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02135.hp1 HG03471.hp2 others(1): Show HG01123.hp2 HG02135.hp1 HG03471.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0009 a0001c0001t0002g0158 a0001c0002t0002g0128 others(1): Show a0001c0001t0002g0009 a0001c0001t0002g0158 a0001c0002t0002g0128 a0001c0002t0002g0136	4	240	0.0167	18	c.306 others(37): Show c.3065+2965_3065+2966insTTTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	28/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136377386	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03579.hp2 HG06807.hp1 HG02055.hp2 HG03579.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0006 a0003c0004t0006 a0001c0001t0006 a0003c0004t0006	a0001c0001t0006g0091 a0001c0001t0006g0092 a0003c0004t0006g0095 a0001c0001t0006g0091 a0001c0001t0006g0092 a0003c0004t0006g0095	3	240	0.0125	18	c.237 others(35): Show c.2370+256_2370+273dupTTTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	23/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0213	1	240	0.0042	18	c.227 others(37): Show c.2277+2211_2277+2228dupAAAAAAAAAAAAAAAAAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136439389	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	240	0.0042	18	c.154 others(37): Show c.1546+3880_1546+3897dupGTGTGTGTGTGTGTGTGT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	15/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498210	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18945.hp2 NA18975.hp1 HG03491.hp2 NA18945.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0221 a0001c0001t0003g0230 a0001c0001t0003g0197 a0001c0001t0003g0221 a0001c0001t0003g0230	3	240	0.0125	18	c.902 others(35): Show c.902+1995_902+2012dupTATATATATATATATATA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	240	0.0042	18	c.902 others(35): Show c.902+1989_902+1990insGTGTATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	240	0.0042	18	c.902 others(35): Show c.902+1989_902+1990insGTATATATATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498257	C C	CACACACA others(11): Show CACACACATACATATACAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp1 NA19240.hp2 others(1): Show HG00735.hp2 HG02109.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0005 a0002c0003t0002 a0002c0003t0008 a0001c0002t0005 a0002c0003t0002 a0002c0003t0008	a0001c0002t0005g0235 a0001c0002t0005g0237 a0002c0003t0002g0148 others(1): Show a0001c0002t0005g0235 a0001c0002t0005g0237 a0002c0003t0002g0148 a0002c0003t0008g0151	4	240	0.0167	18	c.902 others(35): Show c.902+1965_902+1966insATGTATATGTATGTGTGT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136540822	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19010.hp1 HG03834.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0213 a0001c0002t0002g0162 a0001c0001t0003g0213 a0001c0002t0002g0162	2	240	0.0083	18	c.471 others(35): Show c.471+1279_471+1296dupTTTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136540836	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	240	0.0042	18	c.471 others(35): Show c.471+1282_471+1283insGTTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136541537	T T	TTCACACA others(11): Show TTCACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG06807.hp2 HG01109.hp1 HG02055.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0002 a0001c0002t0009 a0003c0008t0009 a0001c0002t0002 a0001c0002t0009 a0003c0008t0009	a0001c0002t0002g0170 a0001c0002t0009g0002 a0003c0008t0009g0001 a0001c0002t0002g0170 a0001c0002t0009g0002 a0003c0008t0009g0001	3	240	0.0125	18	c.471 others(33): Show c.471+564_471+581dupGTGTGTGTGTGTGTGTGA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136579958	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0181 a0001c0002t0012g0181	1	240	0.0042	18	c.298 others(37): Show c.298-11115_298-11098dupAAAAAAAAAAAAAAAAAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	4/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136633962	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	240	0.0042	18	c.-83 others(35): Show c.-83-2999_-83-2982dupTTTTTTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136656617	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp2 HG01070.hp1 others(27): Show HG00544.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp1 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02486.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03486.hp2 HG03540.hp2 HG03927.hp1 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18954.hp1 NA18984.hp2 NA19043.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0002t0005 a0001c0007t0005 a0002c0003t0002 a0003c0004t0006	a0001c0001t0002g0015 a0001c0001t0002g0089 a0001c0001t0002g0125 others(27): Show a0001c0001t0002g0015 a0001c0001t0002g0089 a0001c0001t0002g0125 a0001c0001t0002g0158 a0001c0001t0002g0239 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0004g0016 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0096 a0001c0001t0006g0126 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0133 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0005g0175 a0001c0002t0005g0177 a0001c0002t0005g0179 a0001c0002t0005g0180 a0001c0007t0005g0178 a0002c0003t0002g0139 a0002c0003t0002g0140 a0002c0003t0002g0142 a0002c0003t0002g0154 a0003c0004t0006g0095	30	240	0.1250	18	c.-83 others(37): Show c.-83-25654_-83-25637dupCACACACACACACACACA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136702075	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0139 a0002c0003t0002g0139	1	240	0.0042	18	c.-84 others(37): Show c.-84+50102_-84+50119dupCTCTCTCTCTCTCTCTCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAG2_chrX_123956706_124107656	123983974	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp2 HG02280.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0171 a0001c0001t0004g0174 a0001c0001t0001g0171 a0001c0001t0004g0174	2	276	0.0073	18	c.-16 others(39): Show c.-163+22122_-163+22139dupTTTTTTTTTTTTTTTTTT	STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chrX	TogoVar
STAG2_chrX_123956706_124107656	124026128	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	276	0.0036	18	c.123 others(33): Show c.123+236_123+253dupATAATAATAATAATAATA	STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	4/34		INFO_REALIGN_3_PRIME	chrX	TogoVar
STAM2_chr2_152111801_152180763	152159094	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0033 a0001c0001t0014g0033	1	360	0.0028	18	c.41- others(33): Show c.41-8866_41-8865insATATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	360	0.0028	18	c.41- others(33): Show c.41-8882_41-8881insGTGTATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp1 others(51): Show HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG01167.hp2 HG01978.hp2 HG02027.hp1 HG02074.hp1 HG02135.hp1 HG02135.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG04228.hp2 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18948.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18966.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18994.hp1 NA18998.hp1 NA19004.hp2 NA19007.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19067.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19088.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0032 a0001c0001t0037 a0001c0001t0040 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0013 others(39): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0128 a0001c0001t0005g0002 a0001c0001t0005g0011 a0001c0001t0005g0079 a0001c0001t0005g0082 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0109 a0001c0001t0005g0126 a0001c0001t0010g0010 a0001c0001t0010g0056 a0001c0001t0010g0063 a0001c0001t0010g0084 a0001c0001t0010g0085 a0001c0001t0010g0110 a0001c0001t0014g0035 a0001c0001t0014g0036 a0001c0001t0032g0105 a0001c0001t0037g0077 a0001c0001t0040g0094 a0001c0001t0052g0083 a0001c0001t0053g0097 a0001c0001t0054g0098	54	360	0.1500	18	c.41- others(33): Show c.41-8882_41-8881insGTATATATATATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0340 a0001c0001t0003g0340	1	368	0.0027	18	c.203 others(35): Show c.203+1050_203+1051insTATATATATACACACACA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	368	0.0027	18	c.203 others(35): Show c.203+1050_203+1051insTATATATATATATACACA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG00741.hp1 others(42): Show HG00597.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01346.hp2 HG01361.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG02015.hp1 HG02056.hp2 HG02165.hp1 HG02572.hp2 HG02630.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03486.hp2 HG03669.hp1 HG03831.hp2 HG04228.hp2 NA18948.hp1 NA18952.hp1 NA18962.hp1 NA18974.hp2 NA18983.hp2 NA18988.hp2 NA19007.hp2 NA19009.hp2 NA19043.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19086.hp1 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0002t0006 a0001c0002t0025 a0001c0003t0010	a0001c0001t0002g0006 a0001c0001t0002g0075 a0001c0001t0002g0076 others(39): Show a0001c0001t0002g0006 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0241 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0004g0014 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0266 a0001c0001t0007g0251 a0001c0001t0007g0258 a0001c0001t0007g0269 a0001c0001t0013g0244 a0001c0001t0013g0256 a0001c0001t0016g0267 a0001c0002t0006g0005 a0001c0002t0006g0038 a0001c0002t0006g0039 a0001c0002t0006g0040 a0001c0002t0025g0073 a0001c0003t0010g0037	45	368	0.1223	18	c.203 others(35): Show c.203+1050_203+1051insTATATATATATATATACA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73843406	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0334 a0001c0001t0008g0334	1	368	0.0027	18	c.204 others(35): Show c.204-1394_204-1393insATATATATATATATATAT	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAM_chr10_17639151_17721824	17639402	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG01168.hp2 others(5): Show HG00323.hp2 HG00609.hp2 HG01168.hp2 HG01169.hp2 HG01433.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0003	a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0002g0248 others(5): Show a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0002g0248 a0001c0001t0005g0054 a0001c0001t0008g0039 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0161	8	426	0.0188	18	c.-49 others(29): Show c.-4938_-4937insTTTTTTTTTTTTTTTTTT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding		4748		chr10	TogoVar
STAP2_chr19_4319043_4343827	4340027	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02280.hp2 HG01257.hp1 HG01258.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0034 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0001t0001g0034 a0001c0003t0001g0177 a0001c0003t0001g0178	3	388	0.0077	18	c.-12 others(29): Show c.-1292_-1275dupAAAAAAAAAAAAAAAAAA	STAP2	ENSG00000178078.12	transcript	ENST00000594605.6	protein_coding		1201		chr19	TogoVar
STARD10_chr11_72749729_72799047	72755306	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02293.hp2 HG03834.hp2 others(2): Show HG00099.hp2 HG02293.hp2 HG03834.hp2 NA18964.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0194 a0001c0001t0003g0198 others(2): Show a0001c0001t0003g0185 a0001c0001t0003g0194 a0001c0001t0003g0198 a0001c0001t0003g0278 a0001c0001t0003g0288	5	376	0.0133	18	c.631 others(33): Show c.631-182_631-165dupAAAAAAAAAAAAAAAAAA	STARD10	ENSG00000214530.10	transcript	ENST00000334805.11	protein_coding	6/6			chr11	TogoVar

Search by Variant

Search

Search Results