Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STAT2_chr12_56336597_56365107	56354016	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00621.hp2 HG00642.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0118 a0004c0005t0001g0062 a0001c0001t0001g0118 a0004c0005t0001g0062	2	268	0.0075	31	c.782 others(46): Show c.782+449_782+450insATATATATATATATATATATATATATATAT A	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354041	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0050 a0006c0008t0001g0050	1	268	0.0037	31	c.782 others(46): Show c.782+424_782+425insATATATATATATATATATATATATATATAT A	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT5B_chr17_42194177_42281391	42265377	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	260	0.0039	31	c.-11 others(50): Show c.-11+10870_-11+10871insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAU2_chr8_73415369_73751840	73687284	A A	AAATTTAT others(24): Show AAATTTATATTTATATTTATATTTATAAATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(66): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01071.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01891.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02300.hp1 HG02523.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03927.hp1 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp2 NA18963.hp2 NA18964.hp2 NA18979.hp1 NA18989.hp2 NA19000.hp2 NA19002.hp1 NA19030.hp2 NA19043.hp2 NA19070.hp1 NA19087.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0008t0001 a0002c0002t0001 a0003c0004t0002 a0004c0005t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(66): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0002g0010 a0001c0001t0002g0106 a0001c0003t0001g0057 a0001c0003t0001g0084 a0001c0003t0001g0117 a0001c0008t0001g0092 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0089 a0002c0002t0001g0094 a0002c0002t0001g0161 a0002c0002t0001g0178 a0003c0004t0002g0162 a0004c0005t0002g0227	69	240	0.2875	31	c.274 others(48): Show c.274+1369_274+1370insATATTTATAAATATAAATATAAATATAA ATT	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	5/14			chr8	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	384	0.0026	31	c.762 others(50): Show c.762+35592_762+35593insAAAAAAAAAAATATATATATATATAT ATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18984.hp1 NA18954.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0018 a0001c0001t0002g0020	2	384	0.0052	31	c.762 others(50): Show c.762+35592_762+35593insAAAAAAAAAAAAATATATATATATAT ATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456973	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18967.hp1 NA18939.hp2 NA18967.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0161 a0004c0004t0001g0178 a0004c0004t0001g0161 a0004c0004t0001g0178	2	384	0.0052	31	c.762 others(50): Show c.762+35591_762+35592insTATATATATATATATATATATATATA TATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP2_chr7_90206740_90242683	90208377	G G	GGAAGGAA others(24): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	390	0.0026	31	c.-38 others(42): Show c.-3815_-3814insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	STEAP2	ENSG00000157214.14	transcript	ENST00000394621.7	protein_coding		3362		chr7	TogoVar
STIM2_chr4_26855841_27030381	26885859	A A	ATATATGT others(24): Show ATATATGTATATATATATATAATATATATATG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	336	0.0030	31	c.151 others(50): Show c.151+24495_151+24496insGTATATATATATATAATATATATATG TATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK24_chr13_98440185_98582107	98494412	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0235 a0001c0001t0011g0235	1	322	0.0031	31	c.274 others(50): Show c.274-12092_274-12091insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	2/10			chr13	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19058.hp2 HG03239.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0001t0001g0179 a0001c0001t0001g0193	2	404	0.0050	31	c.483 others(48): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT TTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	404	0.0025	31	c.483 others(48): Show c.483+1630_483+1631insATATATATATATATATATATATATATTT TTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23826705	A A	ACAATTTG others(24): Show ACAATTTGGCATGTTTTTGCAGTGGCTGGTAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0012 a0003c0003t0001g0012	1	404	0.0025	31	c.283 others(50): Show c.2830-5429_2830-5399dupAATTTGGCATGTTTTTGCAGTGGCTG GTACC	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32B_chr4_5046480_5505989	5064488	G G	GTTATATA others(24): Show GTTATATACATATATAATATATAAATATATAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02145.hp1 HG02559.hp1 others(4): Show HG01928.hp1 HG02145.hp1 HG02559.hp1 HG02572.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0021 a0001c0003t0007	a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0003g0062 others(4): Show a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0003g0062 a0001c0001t0005g0133 a0001c0001t0008g0069 a0001c0001t0021g0134 a0001c0003t0007g0074	7	170	0.0412	31	c.52+ others(48): Show c.52+12857_52+12887dupATACATATATAATATATAAATATATACT TAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5230178	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	170	0.0059	31	c.260 others(50): Show c.260+61729_260+61759dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32C_chr10_132202492_132312950	132205982	G G	GGCCCCCC others(24): Show GGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0241 a0001c0002t0003g0241	1	368	0.0027	31	c.20 others(42): Show c.2027_*2028insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding		1509		chr10	TogoVar
STK33_chr11_8386870_8599228	8501798	G G	GTTGCAAA others(24): Show GTTGCAAAAATGCCCATCAGCTGATGAATAAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0269 a0002c0003t0006g0269	1	334	0.0030	31	c.-46 others(52): Show c.-465-21185_-465-21184insATTATTCATCAGCTGATGGGCATT TTTGCAA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8553174	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATGGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp2 HG01070.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0036 a0001c0001t0002g0037	2	334	0.0060	31	c.-46 others(52): Show c.-466+40908_-466+40909insCACCATATATATATATATATATAT ATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8553201	G G	GTATATAT others(24): Show GTATATATATATATATATATATATGGTGTATA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18964.hp2 NA18965.hp1 NA18941.hp2 NA18964.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0064 a0001c0001t0002g0082 a0001c0001t0002g0034 a0001c0001t0002g0064 a0001c0001t0002g0082	3	334	0.0090	31	c.-46 others(52): Show c.-466+40881_-466+40882insTATACACCATATATATATATATAT ATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK38L_chr12_27239286_27330959	27241029	A A	ATGTATAG others(24): Show ATGTATAGTTATATATATTACATATATGACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01943.hp2 HG01993.hp1 others(2): Show HG01517.hp1 HG01943.hp2 HG01993.hp1 HG02723.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0257 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0257 a0001c0001t0004g0260 a0001c0001t0004g0267	5	374	0.0134	31	c.-33 others(42): Show c.-3315_-3314insTGTATAGTTATATATATTACATATATGACTC	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3256		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241316	T T	TTATATAT others(24): Show TTATATATTACATATATGACTCTGTATAGTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	374	0.0027	31	c.-30 others(42): Show c.-3028_-3027insTATATATTACATATATGACTCTGTATAGTTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2969		chr12	TogoVar
STK38L_chr12_27239286_27330959	27308897	T T	TAAATATA others(24): Show TAAATATATATAAATATATATTAATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	374	0.0027	31	c.310 others(46): Show c.310-196_310-166dupTAATATATATAAAATATATATAAATATATA T	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
STK38_chr6_36488892_36552479	36527207	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	398	0.0025	31	c.132 others(48): Show c.132-1566_132-1565insAAATATATATATATATATATATATATAT ATA	STK38	ENSG00000112079.9	transcript	ENST00000229812.8	protein_coding	2/13			chr6	TogoVar
STK39_chr2_167949022_168252595	168242560	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19057.hp2 NA18953.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	270	0.0074	31	c.208 others(48): Show c.208+4667_208+4668insATATATATATATATATATATTTTTTTTT TTT	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/17			chr2	TogoVar
STK39_chr2_167949022_168252595	168242560	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	270	0.0037	31	c.208 others(48): Show c.208+4667_208+4668insATATATATATATATATATATATTTTTTT TTT	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/17			chr2	TogoVar
STOM_chr9_121333987_121375250	121357444	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	386	0.0026	31	c.62- others(46): Show c.62-1289_62-1288insTATATATATATATATATATATATATATATA T	STOM	ENSG00000148175.13	transcript	ENST00000286713.7	protein_coding	1/6			chr9	TogoVar
STRBP_chr9_123116617_123273586	123200734	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	236	0.0042	31	c.-16 others(52): Show c.-164-16437_-164-16436insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	STRBP	ENSG00000165209.19	transcript	ENST00000348403.10	protein_coding	2/18			chr9	TogoVar
STRIT1_chr3_155285227_155298683	155298036	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	444	0.0023	31	c.-44 others(42): Show c.-4405_-4404insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4354		chr3	TogoVar
STRN_chr2_36832698_36971536	36923507	T T	TCTTTCCA others(24): Show TCTTTCCATGTCCCTAATACAGCTTTTCATCA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0127 a0001c0001t0090g0127	1	302	0.0033	31	c.338 others(48): Show c.338+1567_338+1597dupTGATGAAAAGCTGTATTAGGGACATGGA AAG	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding	2/17			chr2	TogoVar
STT3B_chr3_31527925_31642616	31572056	A A	ATATTAAT others(24): Show ATATTAATATATTAAATATATTAATATATAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02486.hp1 others(5): Show HG01884.hp2 HG02109.hp2 HG02486.hp1 HG02922.hp1 HG02970.hp2 HG03209.hp1 HG03225.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0325 a0001c0001t0005g0219 a0001c0002t0001g0216 others(5): Show a0001c0001t0001g0325 a0001c0001t0005g0219 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222	8	342	0.0234	31	c.315 others(48): Show c.315-4333_315-4303dupTATATTAAATATATTAATATATAAGTAT TAA	STT3B	ENSG00000163527.10	transcript	ENST00000295770.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0049 a0003c0003t0011g0049	1	380	0.0026	31	c.205 others(48): Show c.205+3503_205+3504insATATATATATATATTTTTTTTTTTTTTT TTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp1 HG02572.hp1 HG03041.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0035 a0003c0003t0003g0036	2	380	0.0053	31	c.205 others(48): Show c.205+3503_205+3504insATATATATATATATATTTTTTTTTTTTT TTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130843780	T T	TGTATATA others(24): Show TGTATATATAGTATATATTGTATGTATACTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01071.hp2 HG01081.hp2 others(15): Show HG00738.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01891.hp2 HG01981.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02809.hp1 HG02965.hp1 HG03195.hp2 HG03516.hp1 NA18955.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0002 a0002c0002t0020 others(2): Show a0001c0001t0010 a0002c0002t0002 a0002c0002t0020 a0002c0002t0028 a0002c0002t0032	a0001c0001t0010g0032 a0001c0001t0010g0033 a0001c0001t0010g0034 others(14): Show a0001c0001t0010g0032 a0001c0001t0010g0033 a0001c0001t0010g0034 a0002c0002t0002g0007 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0289 a0002c0002t0002g0293 a0002c0002t0002g0339 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0020g0018 a0002c0002t0028g0340 a0002c0002t0032g0075	18	380	0.0474	31	c.-46 others(42): Show c.-4682_-4681insGTAGTATACATACAATATATACTATATATAC	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		4531		chr12	TogoVar
STX2_chr12_130784600_130844250	130843904	C C	CGTATATA others(24): Show CGTATATATAGTATATATTGTATGTATACTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	380	0.0026	31	c.-48 others(42): Show c.-4806_-4805insATAGTATACATACAATATATACTATATATAC	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		4655		chr12	TogoVar
STX6_chr1_180967725_181027870	181023050	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 NA18981.hp1 HG01255.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0076 a0001c0001t0004g0077 a0001c0001t0001g0076 a0001c0001t0004g0077	2	350	0.0057	31	c.-37 others(40): Show c.-378_-377insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		181		chr1	TogoVar
STX6_chr1_180967725_181027870	181023068	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0284 a0001c0002t0002g0284	1	350	0.0029	31	c.-39 others(40): Show c.-396_-395insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		199		chr1	TogoVar
STX8_chr17_9245471_9580820	9504973	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp1 HG03041.hp2 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0182 a0001c0005t0001g0184 a0001c0005t0001g0182 a0001c0005t0001g0184	2	188	0.0106	31	c.448 others(44): Show c.448+64_448+65insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9506405	G G	GCCCCCCC others(24): Show GCCCCCCCCGCCCCCCGCGCCCCCCCCCCCAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0063 a0001c0002t0002g0063	1	188	0.0053	31	c.324 others(48): Show c.324-1244_324-1243insGTGGGGGGGGGGGCGCGGGGGGCGGGGG GGG	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108771535	A A	ATATATAA others(24): Show ATATATAATATATAAATATATAGATATATATC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 NA20129.hp2 HG02723.hp1 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295	3	334	0.0090	31	c.439 others(48): Show c.439-1125_439-1124insAATATATAAATATATAGATATATATCTA TAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5L_chr3_120903205_121429761	121204624	C C	CAATGTAT others(24): Show CAATGTATTGCATAGGTATCTATGTAATAGAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01192.hp2 others(1): Show HG00735.hp2 HG00741.hp1 HG01192.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0021 a0001c0001t0011g0022 a0001c0001t0011g0023 others(1): Show a0001c0001t0011g0021 a0001c0001t0011g0022 a0001c0001t0011g0023 a0001c0001t0011g0024	4	290	0.0138	31	c.878 others(48): Show c.878-1291_878-1290insGCATAGGTATCTATGTAATAGATAATGT ATT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP6_chr14_24804454_25055147	24882378	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0001 a0001c0001t0048g0001	1	242	0.0041	31	c.155 others(50): Show c.155-25252_155-25222dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
STXBP6_chr14_24804454_25055147	24923523	T T	TTGACAAA others(24): Show TTGACAAATGGTTCTCCAAAGTGGTTATATCA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0235 a0001c0001t0106g0235	1	242	0.0041	31	c.154 others(50): Show c.154+51111_154+51141dupTGATATAACCACTTTGGAGAACCATT TGTCA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	2/5			chr14	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0090 a0008c0013t0001g0090	1	280	0.0036	31	c.106 others(52): Show c.1063-21623_1063-21622insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SULF2_chr20_47652406_47790481	47731182	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	364	0.0028	31	c.415 others(48): Show c.415+5520_415+5521insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20			chr20	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(24): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0175 a0001c0001t0001g0101 a0001c0001t0001g0175	2	376	0.0053	31	c.214 others(46): Show c.214+280_214+281insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(24): Show ATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03471.hp1 HG03579.hp2 HG03139.hp2 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0142 a0001c0002t0001g0056 a0001c0002t0001g0142	3	422	0.0071	31	c.-14 others(42): Show c.-1456_-1455insTATATATATATATTTTTTTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(24): Show ATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	422	0.0024	31	c.-14 others(42): Show c.-1456_-1455insTATATATATATTTTTTTTTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19000.hp2 HG03486.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0155 a0001c0003t0001g0154 a0001c0001t0002g0155 a0001c0003t0001g0154	2	236	0.0085	31	c.-32 others(48): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SUSD5_chr3_33145043_33223810	33183930	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	404	0.0025	31	c.410 others(48): Show c.410-8857_410-8856insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding	3/4			chr3	TogoVar
SVEP1_chr9_110360248_110584741	110434666	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG02155.hp1 HG00741.hp2 HG02055.hp1 HG02155.hp1	a0021 a0042 a0046 a0021 a0042 a0046	a0021c0048 a0042c0058 a0046c0102 a0021c0048 a0042c0058 a0046c0102	a0021c0048t0003 a0042c0058t0001 a0046c0102t0001 a0021c0048t0003 a0042c0058t0001 a0046c0102t0001	a0021c0048t0003g0176 a0042c0058t0001g0206 a0046c0102t0001g0154 a0021c0048t0003g0176 a0042c0058t0001g0206 a0046c0102t0001g0154	3	362	0.0083	31	c.488 others(48): Show c.4889-161_4889-160insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	29/47			chr9	TogoVar

Search by Variant

Search

Search Results (Total: 5228 hits)