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
STAU2_chr8_73415369_73751840	73436568	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01261.hp1 others(10): Show HG00140.hp1 HG00738.hp1 HG01261.hp1 HG01433.hp2 HG01884.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG03225.hp2 NA18956.hp2 NA19000.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0039 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0158 a0001c0001t0002g0011 a0001c0001t0005g0053	13	240	0.0542	16	c.153 others(37): Show c.1531-13882_1531-13867dupTAAATAAATAAATAAA	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	13/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73479472	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(16): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00735.hp2 HG01243.hp1 HG02027.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02886.hp1 HG03130.hp2 HG03516.hp2 HG03654.hp1 NA18942.hp1 NA18943.hp2 NA19004.hp2 NA19070.hp2 NA19084.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0069 a0001c0001t0001g0082 others(16): Show a0001c0001t0001g0051 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0183 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0003t0001g0004 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0173	19	240	0.0792	16	c.153 others(37): Show c.1531-56786_1531-56771dupTGTGTGTGTGTGTGTG	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	13/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73479712	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	240	0.0042	16	c.153 others(37): Show c.1531-57026_1531-57011dupACACACACACACACAC	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	13/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73495662	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp2 HG02056.hp1 others(7): Show HG01071.hp1 HG01167.hp2 HG02056.hp1 HG02083.hp1 HG02145.hp1 HG02622.hp1 HG02723.hp2 NA19011.hp1 NA19057.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0093 a0001c0001t0001g0125 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0093 a0001c0001t0001g0125 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0197 a0001c0001t0002g0011 a0001c0001t0007g0240 a0001c0003t0001g0028 a0002c0002t0001g0062	10	240	0.0417	16	c.153 others(37): Show c.1530+56334_1530+56349dupATATATATATATATAT	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	13/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73627205	C C	CAGCGGGG others(9): Show CAGCGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	240	0.0042	16	c.411 others(33): Show c.411-9755_411-9754insCCCCCCCCCCCCCGCT	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	6/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73635908	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	240	0.0042	16	c.411 others(35): Show c.411-18473_411-18458dupTGTGTGTGTGTGTGTG	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	6/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73654637	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01069.hp1 HG01071.hp2 others(9): Show HG00673.hp1 HG01069.hp1 HG01071.hp2 HG01167.hp2 HG01169.hp1 HG01258.hp2 HG02148.hp2 HG02896.hp2 HG03491.hp2 NA18906.hp1 NA18963.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0003c0004t0002 a0004c0005t0002	a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0091 others(9): Show a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0003t0001g0117 a0001c0008t0001g0092 a0003c0004t0002g0162 a0004c0005t0002g0227	12	240	0.0500	16	c.410 others(35): Show c.410+18454_410+18469dupTTTTTTTTTTTTTTTT	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	6/14			chr8	TogoVar
STAU2_chr8_73415369_73751840	73720499	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01175.hp2 others(5): Show HG00642.hp1 HG00673.hp1 HG01175.hp2 HG01261.hp2 HG01891.hp1 HG02148.hp1 HG02922.hp1 HG03139.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0003c0004t0002	a0001c0001t0001g0088 a0001c0001t0002g0072 a0001c0003t0001g0176 others(5): Show a0001c0001t0001g0088 a0001c0001t0002g0072 a0001c0003t0001g0176 a0002c0002t0001g0165 a0003c0004t0002g0162 a0003c0004t0002g0167 a0003c0004t0002g0170 a0003c0004t0002g0175	8	240	0.0333	16	c.-17 others(35): Show c.-17-11353_-17-11338dupAAAAAAAAAAAAAAAA	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	3/14			chr8	TogoVar
STC1_chr8_23836929_23859806	23853035	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG01074.hp2 others(13): Show HG00280.hp1 HG00544.hp1 HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01516.hp2 HG01891.hp1 HG01981.hp2 HG02055.hp2 HG02451.hp1 HG02647.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0027 a0001c0001t0003 a0001c0001t0011 a0001c0001t0027	a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0034 others(5): Show a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0034 a0001c0001t0003g0068 a0001c0001t0011g0041 a0001c0001t0011g0107 a0001c0001t0011g0108 a0001c0001t0027g0066	16	444	0.0360	16	c.119 others(31): Show c.119-667_119-652dupCTTTCTTTCTTTCTTT	STC1	ENSG00000159167.12	transcript	ENST00000290271.7	protein_coding	1/3			chr8	TogoVar
STC1_chr8_23836929_23859806	23858358	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG03209.hp2 HG01099.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0040	2	444	0.0045	16	c.-38 others(27): Show c.-3836_-3835insGCACACACACACACAC	STC1	ENSG00000159167.12	transcript	ENST00000290271.7	protein_coding		3553		chr8	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATTTTT others(9): Show ATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	384	0.0026	16	c.762 others(35): Show c.762+35592_762+35593insAAAAAAAAAAAAAATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1_chr7_90149469_90169827	90153160	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	422	0.0024	16	c.-14 others(27): Show c.-1415_-1414insAAAAAAAAAAAAAAAA	STEAP1	ENSG00000164647.9	transcript	ENST00000297205.7	protein_coding		1308		chr7	TogoVar
STEAP2_chr7_90206740_90242683	90208413	G G	GGGAAGGA others(9): Show GGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	390	0.0026	16	c.-37 others(27): Show c.-3779_-3778insGGAAGGAAGGAAGGAA	STEAP2	ENSG00000157214.14	transcript	ENST00000394621.7	protein_coding		3326		chr7	TogoVar
STEAP3_chr2_119218834_119270652	119227810	G G	GTATTTAT others(9): Show GTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00733.hp1 others(22): Show HG00323.hp2 HG00423.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp2 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02809.hp1 HG03195.hp1 NA18944.hp1 NA18945.hp1 NA18954.hp1 NA18962.hp1 NA18963.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp2 NA19011.hp2 NA19060.hp2 NA19062.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0006 others(1): Show a0001c0001 a0002c0002 a0003c0006 a0006c0015	a0001c0001t0002 a0001c0001t0005 a0001c0001t0029 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0029 a0001c0001t0036 a0002c0002t0003 a0002c0002t0035 a0003c0006t0002 a0006c0015t0002	a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0187 others(17): Show a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0005g0023 a0001c0001t0029g0190 a0001c0001t0036g0183 a0002c0002t0003g0181 a0002c0002t0035g0186 a0003c0006t0002g0011 a0003c0006t0002g0184 a0003c0006t0002g0185 a0006c0015t0002g0182	25	348	0.0718	16	c.-39 others(35): Show c.-393-2792_-393-2777dupATTTATTTATTTATTT	STEAP3	ENSG00000115107.20	transcript	ENST00000393110.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
STEAP3_chr2_119218834_119270652	119231342	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02602.hp1 NA19058.hp2 HG00609.hp2 HG02602.hp1 NA19058.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0002 a0006c0015t0002 a0001c0001t0002 a0006c0015t0002	a0001c0001t0002g0028 a0006c0015t0002g0182 a0001c0001t0002g0028 a0006c0015t0002g0182	3	348	0.0086	16	c.22+ others(29): Show c.22+335_22+350dupGTGTGTGTGTGTGTGT	STEAP3	ENSG00000115107.20	transcript	ENST00000393110.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
STEAP4_chr7_88265892_88311894	88298466	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	318	0.0031	16	c.-3+ others(31): Show c.-3+8310_-3+8325dupGTGTGTGTGTGTGTGT	STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding	1/4			chr7	TogoVar
STH_chr17_45994250_46004694	46002378	G G	GGCGAAGA others(9): Show GGCGAAGAGAGAGTAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	419	0.0024	16	c.27 others(27): Show c.2712_*2713insGCGAAGAGAGAGTAGT	STH	ENSG00000256762.1	transcript	ENST00000537309.1	protein_coding		2685		chr17	TogoVar
STIL_chr1_47245139_47319147	47248278	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0043 a0002c0001t0002g0043	1	392	0.0026	16	c.28 others(27): Show c.2857_*2858insTTTTTTTTTTTTTTTT	STIL	ENSG00000123473.17	transcript	ENST00000371877.8	protein_coding		1860		chr1	TogoVar
STIL_chr1_47245139_47319147	47258992	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02622.hp2 HG02922.hp1 others(5): Show HG01069.hp2 HG02622.hp2 HG02922.hp1 HG03130.hp2 HG03453.hp1 NA18522.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0009 a0001c0002t0003g0013 others(5): Show a0001c0002t0003g0007 a0001c0002t0003g0009 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0020 a0001c0002t0003g0021	8	392	0.0204	16	c.308 others(35): Show c.3080+1296_3080+1297insAAAAAAAAAAAAAAAA	STIL	ENSG00000123473.17	transcript	ENST00000371877.8	protein_coding	16/16			chr1	TogoVar
STIL_chr1_47245139_47319147	47265237	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0039 a0002c0001t0002g0039	1	392	0.0026	16	c.261 others(35): Show c.2616-2137_2616-2122dupTTTTTTTTTTTTTTTT	STIL	ENSG00000123473.17	transcript	ENST00000371877.8	protein_coding	14/16			chr1	TogoVar
STIM1_chr11_3850664_4098208	3895683	C C	CTTCCTTC others(9): Show CTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0078 a0001c0001t0009g0078	1	300	0.0033	16	c.139 others(35): Show c.139+39277_139+39278insCTTCCTTCTTTCTTTC	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3941673	T T	TATATAGA others(9): Show TATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02071.hp1 HG02300.hp2 others(1): Show HG01192.hp2 HG02071.hp1 HG02300.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0026 a0001c0001t0007 a0001c0001t0026	a0001c0001t0007g0228 a0001c0001t0007g0271 a0001c0001t0007g0277 others(1): Show a0001c0001t0007g0228 a0001c0001t0007g0271 a0001c0001t0007g0277 a0001c0001t0026g0279	4	300	0.0133	16	c.140 others(35): Show c.140-25878_140-25877insTATAGAGAGAGAGAGA	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3941673	T T	TATATATA others(9): Show TATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0230 a0001c0001t0007g0230	1	300	0.0033	16	c.140 others(35): Show c.140-25878_140-25877insTATATAGAGAGAGAGA	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3941673	T T	TATATATA others(9): Show TATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0217 a0001c0001t0007g0217	1	300	0.0033	16	c.140 others(35): Show c.140-25878_140-25877insTATATATAGAGAGAGA	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3941696	A A	AGAGAGAG others(9): Show AGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0123 a0001c0001t0008g0123	1	300	0.0033	16	c.140 others(35): Show c.140-25855_140-25854insAGAGAGAGAGAGTGTG	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM2_chr4_26855841_27030381	26885821	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0264 a0001c0001t0004g0264	1	336	0.0030	16	c.151 others(35): Show c.151+24490_151+24505dupATATATATATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIMATE_chr3_52831733_52902548	52834652	G G	GCACACAC others(9): Show GCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG03704.hp2 HG01256.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0258 a0001c0001t0013g0065 a0001c0001t0002g0258 a0001c0001t0013g0065	2	334	0.0060	16	c.58 others(27): Show c.5841_*5842insTGTGTGTGTGTGTGTG	STIMATE	ENSG00000213533.13	transcript	ENST00000355083.11	protein_coding		2080		chr3	TogoVar
STIMATE_chr3_52831733_52902548	52834654	G G	GCACACAC others(9): Show GCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0230 a0001c0001t0023g0230	1	334	0.0030	16	c.58 others(27): Show c.5824_*5839dupTGTGTGTGTGTGTGTG	STIMATE	ENSG00000213533.13	transcript	ENST00000355083.11	protein_coding		2078		chr3	TogoVar
STK10_chr5_172037079_172193224	172037432	C C	CATAAATA others(9): Show CATAAATAAATAAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02258.hp1 HG02723.hp2 others(2): Show HG01167.hp2 HG02258.hp1 HG02723.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 others(1): Show a0001c0002 a0001c0004 a0001c0007 a0001c0010	a0001c0002t0023 a0001c0004t0013 a0001c0004t0038 others(2): Show a0001c0002t0023 a0001c0004t0013 a0001c0004t0038 a0001c0007t0040 a0001c0010t0022	a0001c0002t0023g0137 a0001c0004t0013g0075 a0001c0004t0038g0216 others(2): Show a0001c0002t0023g0137 a0001c0004t0013g0075 a0001c0004t0038g0216 a0001c0007t0040g0112 a0001c0010t0022g0081	5	232	0.0216	16	c.74 others(27): Show c.7449_*7450insTTATTTATTTATTTAT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding		4646		chr5	TogoVar
STK10_chr5_172037079_172193224	172048414	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01167.hp2 others(17): Show HG01106.hp2 HG01109.hp2 HG01167.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02723.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03927.hp2 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0024 a0001c0030	a0001c0002t0001 a0001c0002t0018 a0001c0002t0039 others(15): Show a0001c0002t0001 a0001c0002t0018 a0001c0002t0039 a0001c0003t0001 a0001c0003t0011 a0001c0003t0020 a0001c0004t0001 a0001c0004t0013 a0001c0004t0030 a0001c0005t0001 a0001c0005t0004 a0001c0006t0002 a0001c0006t0003 a0001c0006t0004 a0001c0008t0009 a0001c0008t0029 a0001c0024t0001 a0001c0030t0004	a0001c0002t0001g0094 a0001c0002t0018g0005 a0001c0002t0039g0028 others(17): Show a0001c0002t0001g0094 a0001c0002t0018g0005 a0001c0002t0039g0028 a0001c0003t0001g0130 a0001c0003t0011g0055 a0001c0003t0020g0003 a0001c0004t0001g0101 a0001c0004t0013g0075 a0001c0004t0030g0147 a0001c0005t0001g0205 a0001c0005t0001g0230 a0001c0005t0004g0212 a0001c0006t0002g0092 a0001c0006t0003g0062 a0001c0006t0004g0054 a0001c0008t0009g0012 a0001c0008t0009g0057 a0001c0008t0029g0013 a0001c0024t0001g0153 a0001c0030t0004g0109	20	232	0.0862	16	c.276 others(35): Show c.2767-3408_2767-3393dupGTGTGTGTGTGTGTGT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	18/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056935	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0212 a0001c0005t0004g0212	1	232	0.0043	16	c.233 others(33): Show c.2337+413_2337+414insCCTTCTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056954	G G	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0069 a0001c0003t0001g0207 a0001c0005t0001g0123 a0001c0001t0001g0069 a0001c0003t0001g0207 a0001c0005t0001g0123	3	232	0.0129	16	c.233 others(33): Show c.2337+379_2337+394dupTTTCTTTCTTTCTTTC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056995	G G	GAAAGAAA others(9): Show GAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0230 a0001c0005t0001g0230	1	232	0.0043	16	c.233 others(33): Show c.2337+353_2337+354insTTCTCTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056995	G G	GAAAGAAA others(9): Show GAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02895.hp1 HG03195.hp1 HG02155.hp2 HG02895.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0019 a0001c0001 a0001c0006 a0002c0019	a0001c0001t0001 a0001c0006t0004 a0002c0019t0017 a0001c0001t0001 a0001c0006t0004 a0002c0019t0017	a0001c0001t0001g0154 a0001c0006t0004g0054 a0002c0019t0017g0072 a0001c0001t0001g0154 a0001c0006t0004g0054 a0002c0019t0017g0072	3	232	0.0129	16	c.233 others(33): Show c.2337+353_2337+354insTTCTTTCTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056995	G G	GAAAGAGA others(9): Show GAAAGAGAAAGAAGGAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	232	0.0043	16	c.233 others(33): Show c.2337+353_2337+354insTTCCTTCTTTCTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172056995	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0209 a0001c0005t0001g0209	1	232	0.0043	16	c.233 others(33): Show c.2337+353_2337+354insTTCTTTCTTTCTTTCT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	15/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172087107	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19010.hp1 HG02523.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0004 a0001c0002t0004 a0001c0004t0004	a0001c0002t0004g0148 a0001c0004t0004g0124 a0001c0002t0004g0148 a0001c0004t0004g0124	2	232	0.0086	16	c.168 others(35): Show c.1685+3109_1685+3124dupACACACACACACACAC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	10/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172106401	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01361.hp1 NA20752.hp1 HG00642.hp1 HG01361.hp1 NA20752.hp1	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0005 a0005c0022 a0009c0017 a0001c0005 a0005c0022 a0009c0017	a0001c0005t0001 a0005c0022t0001 a0009c0017t0001 a0001c0005t0001 a0005c0022t0001 a0009c0017t0001	a0001c0005t0001g0199 a0005c0022t0001g0184 a0009c0017t0001g0172 a0001c0005t0001g0199 a0005c0022t0001g0184 a0009c0017t0001g0172	3	232	0.0129	16	c.788 others(31): Show c.788+203_788+218dupTTTTTTTTTTTTTTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	6/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172114473	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	232	0.0043	16	c.520 others(33): Show c.520+3007_520+3008insAATATATATATATATA	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	4/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172114473	A A	ATATATAT others(9): Show ATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0226 a0001c0007t0002g0226	1	232	0.0043	16	c.520 others(33): Show c.520+3007_520+3008insAAAAAAAATATATATA	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	4/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172118878	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0073 a0001c0006t0007g0073	1	232	0.0043	16	c.371 others(33): Show c.371-1264_371-1249dupTTTTTTTTTTTTTTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	3/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172153288	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	232	0.0043	16	c.321 others(33): Show c.321+3320_321+3335dupCTTTCTTTCTTTCTTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	2/18			chr5	TogoVar
STK16_chr2_219240479_219255337	219241434	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 NA19057.hp2 HG02896.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0003 a0001c0001t0002 a0001c0004t0003	a0001c0001t0002g0001 a0001c0004t0003g0001 a0001c0001t0002g0001 a0001c0004t0003g0001	2	410	0.0049	16	c.-44 others(27): Show c.-4467_-4466insTATATATATATATATA	STK16	ENSG00000115661.14	transcript	ENST00000396738.7	protein_coding		4044		chr2	TogoVar
STK16_chr2_219240479_219255337	219241436	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01257.hp2 NA18962.hp1 others(1): Show HG00609.hp2 HG01257.hp2 NA18962.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0001g0001 a0001c0001t0003g0001	4	410	0.0098	16	c.-44 others(27): Show c.-4465_-4464insTATATATATATATATA	STK16	ENSG00000115661.14	transcript	ENST00000396738.7	protein_coding		4042		chr2	TogoVar
STK16_chr2_219240479_219255337	219241438	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	410	0.0024	16	c.-44 others(27): Show c.-4463_-4462insTATATATATATATATA	STK16	ENSG00000115661.14	transcript	ENST00000396738.7	protein_coding		4040		chr2	TogoVar
STK17A_chr7_43578108_43632379	43625753	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG03654.hp1 HG01256.hp2 HG01258.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0027 a0001c0003t0013g0234 a0001c0003t0013g0240 a0001c0003t0013g0027 a0001c0003t0013g0234 a0001c0003t0013g0240	3	392	0.0077	16	c.92 others(25): Show c.920_*935dupAGAGAGAGAGAGAGAG	STK17A	ENSG00000164543.7	transcript	ENST00000319357.6	protein_coding	7/7	936	INFO_REALIGN_3_PRIME	chr7	TogoVar
STK17B_chr2_196128583_196176578	196164038	C C	CAATAAAT others(9): Show CAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01891.hp1 HG02622.hp2 others(1): Show HG01123.hp1 HG01891.hp1 HG02622.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0014 a0001c0003t0004 a0001c0002t0003 a0001c0002t0014 a0001c0003t0004	a0001c0002t0003g0059 a0001c0002t0014g0057 a0001c0003t0004g0241 others(1): Show a0001c0002t0003g0059 a0001c0002t0014g0057 a0001c0003t0004g0241 a0001c0003t0004g0242	4	360	0.0111	16	c.-44 others(31): Show c.-44-627_-44-612dupTATTTATTTATTTATT	STK17B	ENSG00000081320.11	transcript	ENST00000263955.9	protein_coding	1/7			chr2	TogoVar
STK24_chr13_98440185_98582107	98494412	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0008 a0001c0001t0071g0008	1	322	0.0031	16	c.274 others(35): Show c.274-12107_274-12092dupTTTTTTTTTTTTTTTT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	2/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98548861	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0094 a0001c0001t0074g0094	1	322	0.0031	16	c.42+ others(33): Show c.42+27868_42+27883dupTTTTTTTTTTTTTTTT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	1/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98580992	A A	ATTATTTA others(9): Show ATTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA18995.hp1 NA19058.hp1 HG00423.hp2 NA18995.hp1 NA19058.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0006 a0006c0010t0006 a0001c0001t0006 a0006c0010t0006	a0001c0001t0006g0276 a0001c0001t0006g0277 a0006c0010t0006g0274 a0001c0001t0006g0276 a0001c0001t0006g0277 a0006c0010t0006g0274	3	322	0.0093	16	c.-42 others(27): Show c.-4207_-4206insATAAATAAATAAATAA	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding		3886		chr13	TogoVar

Search by Variant

Search

Search Results