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
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01981.hp1 HG01243.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0054 a0001c0001t0002 a0001c0003t0054	a0001c0001t0002g0092 a0001c0003t0054g0131 a0001c0001t0002g0092 a0001c0003t0054g0131	2	306	0.0065	20	c.231 others(39): Show c.231-12896_231-12895insGTGTACACACACACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125046196	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp2 HG02056.hp1 others(8): Show HG00639.hp2 HG01175.hp2 HG02056.hp1 HG02083.hp2 HG02129.hp1 HG02165.hp1 HG02922.hp1 NA18980.hp1 NA18981.hp1 NA18995.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0015 a0001c0001t0061 others(5): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0061 a0001c0003t0002 a0001c0003t0004 a0001c0003t0025 a0002c0002t0001 a0002c0002t0007	a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0015g0203 others(8): Show a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0015g0203 a0001c0001t0061g0104 a0001c0003t0002g0051 a0001c0003t0004g0073 a0001c0003t0004g0124 a0001c0003t0025g0127 a0002c0002t0001g0238 a0002c0002t0001g0273 a0002c0002t0007g0259	11	306	0.0360	20	c.230 others(37): Show c.230+9660_230+9679dupATATATATATATATATATAT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125046196	G G	GATATATA others(13): Show GATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0233 a0002c0002t0001g0233	1	306	0.0033	20	c.230 others(37): Show c.230+9679_230+9680insACATATATATATATATATAT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125092131	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0101 a0001c0001t0026g0101	1	306	0.0033	20	c.99- others(37): Show c.99-36144_99-36125dupTTTTTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106096	C C	CACAAAAA others(13): Show CACAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19054.hp2 NA19091.hp1 NA18999.hp1 NA19054.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0075 a0001c0001t0003 a0001c0001t0013 a0001c0001t0075	a0001c0001t0003g0162 a0001c0001t0013g0160 a0001c0001t0075g0150 a0001c0001t0003g0162 a0001c0001t0013g0160 a0001c0001t0075g0150	3	306	0.0098	20	c.98+ others(37): Show c.98+36536_98+36537insTTTTTTTTTTTTTTTTTTGT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0149 a0001c0001t0021g0149	1	306	0.0033	20	c.98+ others(37): Show c.98+36510_98+36511insATATATTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18987.hp2 NA19000.hp2 others(1): Show NA18977.hp1 NA18987.hp2 NA19000.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0080 a0001c0001t0003 a0002c0002t0001 a0002c0002t0080	a0001c0001t0003g0153 a0001c0001t0003g0174 a0002c0002t0001g0271 others(1): Show a0001c0001t0003g0153 a0001c0001t0003g0174 a0002c0002t0001g0271 a0002c0002t0080g0278	4	306	0.0131	20	c.98+ others(37): Show c.98+36510_98+36511insATATATATTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0272 a0002c0002t0001g0272	1	306	0.0033	20	c.98+ others(37): Show c.98+36510_98+36511insATATATATATTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP2_chr15_74838730_74878365	74865950	C C	CGAAGGAA others(13): Show CGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp1 NA18959.hp2 HG00741.hp1 HG01256.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0084 a0001c0001t0001g0361 a0001c0001t0030g0083 a0001c0001t0001g0084 a0001c0001t0001g0361 a0001c0001t0030g0083	3	386	0.0078	20	c.57+ others(35): Show c.57+7229_57+7248dupCTTCCTTCCTTCCTTCCTTC	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding	1/8			chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74873426	G G	GCCCCCCC others(13): Show GCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 NA18946.hp2 HG02148.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0013 a0001c0001t0017g0305 a0001c0001t0006g0013 a0001c0001t0017g0305	2	386	0.0052	20	c.-17 others(29): Show c.-172_-171insGGGGGGGGGGGGGGGGGGGG	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		62		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74873448	C C	CCCCCCCC others(13): Show CCCCCCCCCCCCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0335 a0001c0001t0004g0335	1	386	0.0026	20	c.-19 others(29): Show c.-194_-193insCGGGGGGGGGGGGGGGGGGG	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		84		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	386	0.0026	20	c.-14 others(31): Show c.-1407_-1406insATATTTTTTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0363 a0001c0001t0006g0363	1	386	0.0026	20	c.-14 others(31): Show c.-1407_-1406insATATATTTTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0356 a0001c0001t0003g0356	1	386	0.0026	20	c.-14 others(31): Show c.-1407_-1406insATATATATTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	386	0.0026	20	c.-14 others(31): Show c.-1407_-1406insATATATATATTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0354 a0001c0001t0031g0354	1	386	0.0026	20	c.-14 others(31): Show c.-1407_-1406insATATATATATATATATTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP3_chr1_155250981_155267360	155252690	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	375	0.0027	20	c.35 others(31): Show c.3582_*3583insTATATATATATATATATACA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3290		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252690	G G	GTGTATGT others(13): Show GTGTATGTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	375	0.0027	20	c.35 others(31): Show c.3582_*3583insTATATATATATATACATACA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3290		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252690	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 NA18978.hp1 NA18978.hp2 HG01257.hp2 NA18978.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	3	375	0.0080	20	c.35 others(31): Show c.3582_*3583insTATATATATATATATACACA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3290		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	20	c.35 others(31): Show c.3550_*3551insAAAATATATATATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	20	c.35 others(31): Show c.3550_*3551insAAAAAAAAAATATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(13): Show ATATATATATTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	20	c.35 others(31): Show c.3550_*3551insATATATATATAATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155265566	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01891.hp1 others(2): Show HG00099.hp1 HG01109.hp1 HG01891.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0007g0038	5	375	0.0133	20	c.-34 others(31): Show c.-3435_-3416dupATTTATTTATTTATTTATTT	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3207		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155265592	A A	AATAAATA others(13): Show AATAAATAAATAAATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01257.hp2 others(15): Show HG01099.hp1 HG01167.hp1 HG01257.hp2 HG01433.hp2 HG01516.hp2 HG01978.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp1 NA19030.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0019 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0053	18	375	0.0480	20	c.-34 others(31): Show c.-3442_-3441insATATTTATTTATTTATTTAT	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3233		chr1	TogoVar
SCAMP4_chr19_1900399_1931013	1906866	T T	TGGTGTGT others(13): Show TGGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01346.hp1 HG01952.hp2 others(12): Show HG00544.hp2 HG01346.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02071.hp1 HG02148.hp2 HG02559.hp2 NA18941.hp1 NA18956.hp1 NA18990.hp2 NA18999.hp2 NA19043.hp2 NA19057.hp1 NA19080.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0036 a0001c0001t0037 a0005c0010t0004	a0001c0001t0004g0015 a0001c0001t0004g0158 a0001c0001t0004g0161 others(12): Show a0001c0001t0004g0015 a0001c0001t0004g0158 a0001c0001t0004g0161 a0001c0001t0004g0165 a0001c0001t0005g0160 a0001c0001t0005g0162 a0001c0001t0005g0164 a0001c0001t0005g0166 a0001c0001t0006g0159 a0001c0001t0006g0163 a0001c0001t0006g0169 a0001c0001t0014g0167 a0001c0001t0036g0157 a0001c0001t0037g0015 a0005c0010t0004g0168	15	442	0.0339	20	c.-42 others(37): Show c.-42+1427_-42+1428insGGTGTGTGTGTGTGTGTGTG	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6			chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1906866	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00738.hp2 others(32): Show HG00408.hp1 HG00609.hp1 HG00738.hp2 HG01069.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp2 HG01943.hp2 HG02074.hp2 HG02258.hp1 HG02273.hp1 HG02809.hp1 HG02922.hp2 HG03098.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18972.hp1 NA18973.hp2 NA18981.hp2 NA19000.hp2 NA19012.hp1 NA19058.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19081.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0029	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0070 others(28): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0196 a0001c0001t0002g0011 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0003g0396 a0001c0001t0010g0008 a0001c0001t0010g0081 a0001c0001t0011g0071 a0001c0001t0017g0066 a0001c0001t0017g0079 a0001c0001t0018g0067 a0001c0001t0029g0065	35	442	0.0792	20	c.-42 others(37): Show c.-42+1431_-42+1450dupGTGTGTGTGTGTGTGTGTGT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1906888	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	442	0.0023	20	c.-42 others(37): Show c.-42+1450_-42+1451insGTGTGTGTGTGTGTGTGTAT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02280.hp2 HG02602.hp1 others(2): Show HG02071.hp1 HG02280.hp2 HG02602.hp1 HG03041.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0021 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0147 a0001c0001t0001g0185	5	370	0.0135	20	c.-47 others(31): Show c.-4728_-4727insTCTTTCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76357150	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03209.hp1 NA18980.hp2 others(3): Show HG01496.hp2 HG03209.hp1 NA18980.hp2 NA19043.hp1 NA19058.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 a0002c0002t0002	a0001c0001t0001g0050 a0001c0001t0001g0080 a0001c0001t0004g0135 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0080 a0001c0001t0004g0135 a0001c0001t0004g0154 a0001c0007t0001g0026 a0002c0002t0002g0309	6	312	0.0192	20	c.385 others(39): Show c.3856-3030_3856-3011dupTGTGTGTGTGTGTGTGTGTG	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	29/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG02109.hp1 others(13): Show HG01081.hp1 HG01243.hp1 HG02109.hp1 HG02257.hp1 HG02559.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG03017.hp1 HG03098.hp2 NA18906.hp2 NA18946.hp2 NA18970.hp1 NA18984.hp2 NA18993.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0010 others(3): Show a0001c0001 a0001c0004 a0001c0010 a0002c0002 a0002c0003 a0002c0011	a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 a0002c0002t0002 a0002c0003t0002 a0002c0011t0002	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0004t0001g0128 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0004t0001g0128 a0001c0004t0001g0131 a0001c0004t0001g0161 a0001c0010t0001g0168 a0001c0010t0001g0169 a0002c0002t0002g0242 a0002c0002t0002g0288 a0002c0002t0002g0300 a0002c0002t0002g0304 a0002c0003t0002g0188 a0002c0003t0002g0193 a0002c0003t0002g0199 a0002c0003t0002g0208 a0002c0011t0002g0275	16	312	0.0513	20	c.331 others(39): Show c.3311+5192_3311+5211dupTATATATATATATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76431676	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03130.hp1 HG02896.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0004t0001g0128 a0001c0004t0001g0129	2	312	0.0064	20	c.331 others(39): Show c.3311+2382_3311+2401dupTTTTTTTTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA19085.hp1 HG01106.hp2 NA19085.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0002 a0003c0006t0001 a0002c0002t0002 a0003c0006t0001	a0002c0002t0002g0261 a0003c0006t0001g0145 a0002c0002t0002g0261 a0003c0006t0001g0145	2	312	0.0064	20	c.295 others(41): Show c.2954+16125_2954+16144dupAAAAAAAAAAAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76510888	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19240.hp1 HG02572.hp1 NA19240.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0170 a0005c0009t0001g0172 a0005c0009t0001g0170 a0005c0009t0001g0172	2	312	0.0064	20	c.283 others(39): Show c.2839-5915_2839-5914insGCGCACACACACACACACAC	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76568190	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0199 a0002c0003t0002g0199	1	312	0.0032	20	c.283 others(39): Show c.2838+5948_2838+5967dupATATATATATATATATATAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76572915	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0132 a0001c0004t0001g0132	1	312	0.0032	20	c.283 others(39): Show c.2838+1242_2838+1243insTGTGTGTGTGTGTGTGTGTG	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76572917	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG03130.hp1 HG02109.hp2 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0161 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0161	3	312	0.0096	20	c.283 others(39): Show c.2838+1240_2838+1241insTGTGTGTGTGTGTGTGTGTG	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76637742	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0196 a0002c0003t0006g0196	1	312	0.0032	20	c.264 others(41): Show c.2646-15914_2646-15913insCATATATATATATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(13): Show CACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA20752.hp1 NA18973.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0224 a0002c0002t0002g0230 a0002c0002t0002g0224 a0002c0002t0002g0230	2	312	0.0064	20	c.264 others(41): Show c.2645+13281_2645+13282insATATATATATATGTGTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(13): Show CACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19005.hp2 HG00735.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0011 a0002c0002t0002g0237 a0001c0001t0001g0011 a0002c0002t0002g0237	2	312	0.0064	20	c.264 others(41): Show c.2645+13281_2645+13282insATATATATATATATGTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACATA others(13): Show CACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0243 a0002c0002t0002g0243	1	312	0.0032	20	c.264 others(41): Show c.2645+13281_2645+13282insATATATATATATATATGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACATATA others(13): Show CACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0242 a0002c0002t0002g0242	1	312	0.0032	20	c.264 others(41): Show c.2645+13281_2645+13282insATATATATATATATATATGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76726124	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01169.hp2 others(14): Show HG00735.hp1 HG01167.hp2 HG01169.hp2 HG02080.hp2 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02602.hp2 HG02922.hp2 HG03579.hp1 NA18945.hp1 NA18963.hp1 NA18969.hp2 NA18993.hp2 NA19043.hp2 NA19062.hp1 NA19085.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0010	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0002c0003 a0005c0009 a0010c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0004t0009 a0001c0005t0001 a0002c0003t0002 a0005c0009t0001 a0010c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0040 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0004g0111 a0001c0001t0004g0142 a0001c0001t0004g0147 a0001c0004t0009g0119 a0001c0005t0001g0060 a0002c0003t0002g0188 a0002c0003t0002g0203 a0005c0009t0001g0170 a0010c0019t0001g0127	17	312	0.0545	20	c.216 others(39): Show c.2165+2451_2165+2470dupATATATATATATATATATAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	17/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76873274	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18970.hp1 HG01361.hp1 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0001 a0002c0011t0002 a0001c0001t0001 a0002c0011t0002	a0001c0001t0001g0073 a0002c0011t0002g0275 a0001c0001t0001g0073 a0002c0011t0002g0275	2	312	0.0064	20	c.6+1 others(35): Show c.6+10518_6+10537dupCCTTCCTTCCTTCCTTCCTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47417901	G G	GGGGGCGG others(13): Show GGGGGCGGGGGAGAAGTGAGA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19001.hp2 NA18972.hp2 NA19001.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0011c0017t0001 a0001c0001t0001 a0011c0017t0001	a0001c0001t0001g0136 a0011c0017t0001g0261 a0001c0001t0001g0136 a0011c0017t0001g0261	2	304	0.0066	20	c.244 others(35): Show c.2448-76_2448-75insTCTCACTTCTCCCCCGCCCC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02155.hp2 HG03486.hp2 others(3): Show HG01975.hp1 HG02155.hp2 HG03486.hp2 HG04204.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0201 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204	6	304	0.0197	20	c.-99 others(37): Show c.-99+2718_-99+2719insTTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47473086	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18954.hp2 NA19079.hp1 others(1): Show NA18951.hp1 NA18954.hp2 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184	4	304	0.0132	20	c.-99 others(37): Show c.-99+2712_-99+2713insGTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47473086	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAACAAAAAAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	304	0.0033	20	c.-99 others(37): Show c.-99+2712_-99+2713insGTTTTTTGTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCAP_chr3_47408681_47480941	47473086	A A	AAAAAAAA others(13): Show AAAAAAAAAAAACAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03516.hp2 HG01168.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0179 a0001c0010t0001g0180 a0001c0001t0001g0179 a0001c0010t0001g0180	2	304	0.0066	20	c.-99 others(37): Show c.-99+2712_-99+2713insGTTTTTTTGTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCARA3_chr8_27628902_27678018	27653570	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18953.hp1 NA19010.hp1 HG01099.hp1 NA18953.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0003g0112 a0001c0001t0005g0044 a0001c0001t0007g0159 a0001c0001t0003g0112 a0001c0001t0005g0044 a0001c0001t0007g0159	3	408	0.0074	20	c.226 others(37): Show c.226+1954_226+1973dupGTGTGTGTGTGTGTGTGTGT	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA3_chr8_27628902_27678018	27660654	A A	AGATAGAT others(13): Show AGATAGATAGATAGATAGATC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03195.hp2 HG03831.hp2 others(1): Show HG00597.hp2 HG03195.hp2 HG03831.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0037 a0001c0001t0003 a0001c0001t0005 a0001c0001t0037	a0001c0001t0003g0121 a0001c0001t0003g0149 a0001c0001t0005g0055 others(1): Show a0001c0001t0003g0121 a0001c0001t0003g0149 a0001c0001t0005g0055 a0001c0001t0037g0155	4	408	0.0098	20	c.136 others(39): Show c.1369+1118_1369+1119insAGATAGATAGATAGATCGAT	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar

Search by Variant

Search

Search Results