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 (≤).

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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	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02523.hp1 NA18747.hp2 others(1): Show HG01255.hp2 HG02523.hp1 NA18747.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0145	4	268	0.0149	27	c.782 others(42): Show c.782+449_782+450insATATATATATATATATATATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18962.hp2 HG01496.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0188 a0001c0001t0001g0138 a0001c0001t0001g0188	2	268	0.0075	27	c.782 others(42): Show c.782+449_782+450insATATATATATATATATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02273.hp2 HG02818.hp1 others(2): Show HG01255.hp1 HG02273.hp2 HG02818.hp1 NA18968.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0185 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0185 a0001c0001t0001g0222 a0001c0001t0001g0241	5	268	0.0187	27	c.782 others(42): Show c.782+449_782+450insATATATATATATATATATATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02080.hp2 HG02698.hp1 others(3): Show HG01169.hp1 HG02080.hp2 HG02698.hp1 HG02698.hp2 HG02976.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0178	6	268	0.0224	27	c.782 others(42): Show c.782+449_782+450insATATATATATATATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56363211	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02615.hp1 HG03453.hp1 HG02055.hp1 HG02615.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0047	3	268	0.0112	27	c.-31 others(38): Show c.-3162_-3161insATATATATATATATATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding		3105		chr12	TogoVar
STAT4_chr2_191024576_191155994	191125476	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01257.hp1 HG01257.hp2 others(1): Show HG00733.hp2 HG01257.hp1 HG01257.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0077 a0001c0001t0001g0078 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0137	4	290	0.0138	27	c.273 others(46): Show c.273+21110_273+21136dupTAATAATAATAATAATAATAATAATA A	STAT4	ENSG00000138378.19	transcript	ENST00000392320.7	protein_coding	3/23			chr2	TogoVar
STAT5B_chr17_42194177_42281391	42265377	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02004.hp1 HG02040.hp2 others(9): Show HG00558.hp1 HG02004.hp1 HG02040.hp2 HG02723.hp1 HG02735.hp1 HG02896.hp2 HG03098.hp1 HG04184.hp1 HG04204.hp2 NA18970.hp2 NA19056.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0163 others(9): Show a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0002g0189 a0001c0001t0014g0191	12	260	0.0462	27	c.-11 others(46): Show c.-11+10870_-11+10871insAAAAAAAAAAAAAAAAAAAAAAAAAA A	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STAU1_chr20_49108339_49193334	49126588	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAACAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0328 a0001c0001t0008g0328	1	366	0.0027	27	c.610 others(44): Show c.610-2002_610-2001insTTGTTTTTTTTTTGTTTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU1_chr20_49108339_49193334	49126588	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAACAAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	366	0.0027	27	c.610 others(44): Show c.610-2002_610-2001insTTGTTTTTTTTTTTGTTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU1_chr20_49108339_49193334	49126588	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAACAAAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA20805.hp1 HG04184.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0294 a0001c0001t0002g0215 a0001c0001t0002g0294	2	366	0.0055	27	c.610 others(44): Show c.610-2002_610-2001insTTTGTTTTTTTTTTGTTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU1_chr20_49108339_49193334	49126588	C C	CAAAAAAA others(20): Show CAAAAAAAAAAACAAAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	366	0.0027	27	c.610 others(44): Show c.610-2002_610-2001insTTGTTTTTTTTTTTTGTTTTTTTTTTT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	6/13			chr20	TogoVar
STAU2_chr8_73415369_73751840	73479709	A A	ACAATATA others(20): Show ACAATATACGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG03704.hp1 others(1): Show HG02615.hp2 HG02630.hp2 HG03704.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0068 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0068 a0001c0001t0001g0080 a0002c0002t0001g0042	4	240	0.0167	27	c.153 others(48): Show c.1531-57008_1531-57007insCACACACACACACACACACGTATA TTG	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	13/14			chr8	TogoVar
STEAP1B_chr7_22414444_22505188	22454865	A A	AAATATAA others(20): Show AAATATAAATATATATATGTATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp2 others(51): Show HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG01074.hp2 HG01175.hp2 HG01261.hp1 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02258.hp1 HG02683.hp1 HG02738.hp1 HG03195.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp1 HG04228.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18961.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18978.hp2 NA18981.hp1 NA18987.hp2 NA18989.hp2 NA18997.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp1 NA19012.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0007 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0053 a0001c0001t0001g0093 a0001c0001t0001g0130 others(51): Show a0001c0001t0001g0053 a0001c0001t0001g0093 a0001c0001t0001g0130 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0040 a0001c0001t0002g0079 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0124 a0001c0001t0002g0142 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0002c0002t0002g0013 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0002t0002g0241 a0002c0002t0002g0250 a0002c0002t0002g0255 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0275 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0295 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0307 a0002c0002t0002g0313 a0002c0002t0002g0320 a0002c0002t0002g0333 a0002c0002t0007g0381 a0003c0003t0001g0184 a0003c0003t0002g0183	54	384	0.1406	27	c.763 others(46): Show c.763-35030_763-35029insATATATATACATATATATATTTATAT T	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0216 a0003c0003t0001g0216	1	384	0.0026	27	c.762 others(46): Show c.762+35592_762+35593insAAATATATATATATATATATATATAT A	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP2_chr7_90206740_90242683	90208375	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA19057.hp1 NA18747.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0001 a0001c0001t0001g0017	2	390	0.0051	27	c.-38 others(38): Show c.-3817_-3816insAGGAAGGAAGGAAGGAAGGAAGGAAGG	STEAP2	ENSG00000157214.14	transcript	ENST00000394621.7	protein_coding		3364		chr7	TogoVar
STEAP2_chr7_90206740_90242683	90208377	G G	GGAAGGAA others(20): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA19030.hp1 NA19062.hp2 others(1): Show NA18960.hp2 NA19030.hp1 NA19062.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0060 a0001c0001t0001 a0001c0001t0060	a0001c0001t0001g0001 a0001c0001t0060g0108 a0001c0001t0001g0001 a0001c0001t0060g0108	4	390	0.0103	27	c.-38 others(38): Show c.-3815_-3814insGAAGGAAGGAAGGAAGGAAGGAAGGAA	STEAP2	ENSG00000157214.14	transcript	ENST00000394621.7	protein_coding		3362		chr7	TogoVar
STEEP1_chrX_119533149_119570409	119536967	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	293	0.0034	27	c.27 others(38): Show c.2759_*2760insTTTTTTTTTTTTTTTTTTTTTTTTTTT	STEEP1	ENSG00000018610.15	transcript	ENST00000644802.2	protein_coding		1181		chrX	TogoVar
STIM2_chr4_26855841_27030381	26860795	C C	CGCGGCGG others(20): Show CGCGGCGGCGGCGGCGGCGGCGGTGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02559.hp1 others(5): Show HG02145.hp1 HG02280.hp1 HG02559.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0025 a0001c0001t0012 a0001c0001t0013 a0001c0001t0025	a0001c0001t0012g0215 a0001c0001t0012g0221 a0001c0001t0012g0222 others(5): Show a0001c0001t0012g0215 a0001c0001t0012g0221 a0001c0001t0012g0222 a0001c0001t0012g0223 a0001c0001t0013g0217 a0001c0001t0013g0218 a0001c0001t0013g0219 a0001c0001t0025g0220	8	336	0.0238	27	c.-42 others(36): Show c.-424_-423insGCGGCGGCGGCGGCGGCGGCGGTGGCG	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding		45		chr4	TogoVar
STK17B_chr2_196128583_196176578	196173988	T T	TGAGGGAC others(20): Show TGAGGGACGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	27	c.-27 others(38): Show c.-2701_-2700insCCCCCCCCCCCCCCCCCCCCGTCCCTC	STK17B	ENSG00000081320.11	transcript	ENST00000263955.9	protein_coding		2411		chr2	TogoVar
STK24_chr13_98440185_98582107	98494412	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19055.hp1 HG02886.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0027 a0001c0001t0011g0146 a0001c0001t0002g0027 a0001c0001t0011g0146	2	322	0.0062	27	c.274 others(46): Show c.274-12092_274-12091insTTTTTTTTTTTTTTTTTTTTTTTTTT T	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	2/10			chr13	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0142 a0003c0003t0001g0142	1	404	0.0025	27	c.483 others(44): Show c.483+1630_483+1631insATATATATATATATATATATATATTTT	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(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02622.hp2 NA18963.hp2 HG01261.hp1 HG02622.hp2 NA18963.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0010 a0003c0003 a0008c0010	a0003c0003t0001 a0008c0010t0001 a0003c0003t0001 a0008c0010t0001	a0003c0003t0001g0013 a0003c0003t0001g0098 a0008c0010t0001g0210 a0003c0003t0001g0013 a0003c0003t0001g0098 a0008c0010t0001g0210	3	404	0.0074	27	c.483 others(44): Show c.483+1630_483+1631insATATATATATATATATATATATTTTTT	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(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0001 a0014c0013t0001	a0014c0013t0001g0092 a0014c0013t0001g0092	1	404	0.0025	27	c.483 others(44): Show c.483+1630_483+1631insATATATATATATATATATTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32B_chr4_5046480_5505989	5051371	A A	AGGGCCGA others(20): Show AGGGCCGAGCAGGGATTCAGATTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02451.hp1 others(4): Show HG01243.hp2 HG01884.hp1 HG02451.hp1 HG02647.hp1 HG02647.hp2 HG03209.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0003t0002 a0002c0004t0016	a0001c0001t0001g0113 a0001c0001t0007g0114 a0001c0003t0001g0018 others(4): Show a0001c0001t0001g0113 a0001c0001t0007g0114 a0001c0003t0001g0018 a0001c0003t0001g0115 a0001c0003t0002g0108 a0001c0003t0002g0120 a0002c0004t0016g0121	7	170	0.0412	27	c.-49 others(36): Show c.-493_-492insGGGCCGAGCAGGGATTCAGATTCTTCC	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding		108		chr4	TogoVar
STK32B_chr4_5046480_5505989	5064469	T T	TATATAAA others(20): Show TATATAAATATATACTTATATACATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0112 a0001c0003t0001g0112	1	170	0.0059	27	c.52+ others(44): Show c.52+12572_52+12573insATACATATAATATAAATATATACTTAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5311915	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01516.hp2 HG01257.hp1 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0078 a0002c0002t0002g0064 a0002c0002t0001g0078 a0002c0002t0002g0064	2	170	0.0118	27	c.261 others(46): Show c.261-19305_261-19304insATATATATATATATATATATATATAT A	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11			chr4	TogoVar
STK32B_chr4_5046480_5505989	5489621	A A	ATTTATTT others(20): Show ATTTATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0028 a0002c0004t0003g0028	1	170	0.0059	27	c.110 others(46): Show c.1107-9321_1107-9320insATTTTTTTTTTTTTTTTTTTTTTTTT T	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK33_chr11_8386870_8599228	8553174	A A	ATATATAT others(20): Show ATATATATATATATATATATATATGGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02004.hp1 HG02155.hp2 others(7): Show HG00280.hp2 HG02004.hp1 HG02155.hp2 HG02735.hp1 HG02922.hp1 HG03017.hp2 NA18940.hp1 NA18979.hp1 NA19077.hp1 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0003c0005t0002	a0001c0001t0002g0005 a0001c0001t0002g0035 a0001c0001t0002g0040 others(7): Show a0001c0001t0002g0005 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0075 a0001c0001t0002g0110 a0001c0001t0003g0026 a0001c0001t0018g0107 a0003c0005t0002g0008 a0003c0005t0002g0031 a0003c0005t0002g0099	10	334	0.0299	27	c.-46 others(48): Show c.-466+40882_-466+40908dupCACCATATATATATATATATATAT ATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK33_chr11_8386870_8599228	8553203	A A	ATATATAT others(20): Show ATATATATATATATATATATATATGGTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	334	0.0030	27	c.-46 others(48): Show c.-466+40879_-466+40880insCACCATATATATATATATATATAT ATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK38L_chr12_27239286_27330959	27241347	A A	ATATATTA others(20): Show ATATATTACATATATGACTCTGTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	374	0.0027	27	c.-29 others(38): Show c.-2997_-2996insTATATTACATATATGACTCTGTATAGT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2938		chr12	TogoVar
STK38L_chr12_27239286_27330959	27241378	A A	ATATATTA others(20): Show ATATATTACATATATGACTCTGTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	374	0.0027	27	c.-29 others(38): Show c.-2966_-2965insTATATTACATATATGACTCTGTATAGT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2907		chr12	TogoVar
STK38L_chr12_27239286_27330959	27306712	T T	TCACACAC others(20): Show TCACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	374	0.0027	27	c.187 others(44): Show c.187-1627_187-1626insCACACACACACACACACACACACACAC	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding	3/13			chr12	TogoVar
STK38L_chr12_27239286_27330959	27306714	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0295 a0001c0001t0012g0295	1	374	0.0027	27	c.187 others(44): Show c.187-1625_187-1624insCACACACACACACACACACACACACAC	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding	3/13			chr12	TogoVar
STK39_chr2_167949022_168252595	167951616	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0008 a0001c0010t0008	a0001c0010t0008g0152 a0001c0010t0008g0152	1	270	0.0037	27	c.38 others(38): Show c.3879_*3880insTTTTTTTTTTTTTTTTTTTTTTTTTTT	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding		2405		chr2	TogoVar
STK39_chr2_167949022_168252595	168247544	C C	CCCGCCGC others(20): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02630.hp2 NA19062.hp2 others(1): Show HG02572.hp1 HG02630.hp2 NA19062.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 others(1): Show a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022	a0001c0001t0019g0002 a0001c0001t0020g0003 a0001c0001t0021g0004 others(1): Show a0001c0001t0019g0002 a0001c0001t0020g0003 a0001c0001t0021g0004 a0001c0001t0022g0005	4	270	0.0148	27	c.-11 others(36): Show c.-110_-109insCGGCGGCGGCGGCGGCGGCGGCGGCGG	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/18	110		chr2	TogoVar
STK40_chr1_36334628_36390924	36345991	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0081 a0001c0005t0005g0081	1	350	0.0029	27	c.740 others(44): Show c.740-1728_740-1727insAAAAATATATATATATATATATATATA	STK40	ENSG00000196182.11	transcript	ENST00000373132.4	protein_coding	7/10			chr1	TogoVar
STK4_chr20_44961512_45085021	45011730	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0140 a0002c0002t0007g0140	1	328	0.0031	27	c.114 others(48): Show c.1147+10377_1147+10378insATATATATATATATATATATATAT ATA	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	9/10			chr20	TogoVar
STMN3_chr20_63634712_63658424	63651979	G G	GGGGCAGG others(20): Show GGGGCAGGAGGGGAGTCCCCTCCGCTGA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	388	0.0026	27	c.19+ others(42): Show c.19+1321_19+1347dupTCAGCGGAGGGGACTCCCCTCCTGCCC	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	1/4			chr20	TogoVar
STPG2_chr4_97553872_98148476	97886180	C C	CCTAGAGT others(20): Show CCTAGAGTGGCAAAATCGGGAAAATCTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0248 a0001c0002t0001g0248	1	266	0.0038	27	c.104 others(48): Show c.1045-45249_1045-45248insAAGATTTTCCCGATTTTGCCACTC TAG	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	8/10			chr4	TogoVar
STRBP_chr9_123116617_123273586	123200734	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	236	0.0042	27	c.-16 others(48): Show c.-164-16463_-164-16437dupAAAAAAAAAAAAAAAAAAAAAAAA AAA	STRBP	ENSG00000165209.19	transcript	ENST00000348403.10	protein_coding	2/18			chr9	TogoVar
STRN3_chr14_30888804_31031379	30929954	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01169.hp1 HG01361.hp1 HG00741.hp1 HG01169.hp1 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0007 a0001c0004t0006 a0001c0004t0007	a0001c0004t0006g0071 a0001c0004t0006g0072 a0001c0004t0007g0074 a0001c0004t0006g0071 a0001c0004t0006g0072 a0001c0004t0007g0074	3	364	0.0082	27	c.989 others(42): Show c.989-644_989-643insTTTTTTTTTTTTTTTTTTTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30929967	A A	AAAAAAAA others(20): Show AAAAAAAAAAAACAAAAAACAAAAAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0211 a0001c0004t0007g0211	1	364	0.0028	27	c.989 others(42): Show c.989-657_989-656insGTTTTTTTGTTTTTTGTTTTTTTTTTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	7/17			chr14	TogoVar
STUB1_chr16_675410_687801	679989	T T	TGCTGGGG others(20): Show TGCTGGGGGCGGGGCCTCTGCGGATGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	356	0.0028	27	c.-53 others(36): Show c.-537_-536insGCTGGGGGCGGGGCCTCTGCGGATGGG	STUB1	ENSG00000103266.11	transcript	ENST00000219548.9	protein_coding		420		chr16	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0319 a0002c0002t0002g0319	1	380	0.0026	27	c.205 others(44): Show c.205+3503_205+3504insATATATATATATATATATATATTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	380	0.0026	27	c.205 others(44): Show c.205+3503_205+3504insATATATATATATATATATATATATATA	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX6_chr1_180967725_181027870	181023050	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	350	0.0029	27	c.-37 others(36): Show c.-378_-377insAGAGAGAGAGAGAGAGAGAGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		181		chr1	TogoVar
STX8_chr17_9245471_9580820	9430062	A A	ATATATAT others(20): Show ATATATATTCTATATAATATATATATTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	188	0.0053	27	c.542 others(46): Show c.542-51410_542-51409insAAATATATATATTATATAGAATATAT A	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9471031	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02647.hp2 HG02683.hp1 others(1): Show HG01496.hp2 HG02647.hp2 HG02683.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0134 a0001c0001t0001g0164 a0001c0003t0001g0042 others(1): Show a0001c0001t0001g0134 a0001c0001t0001g0164 a0001c0003t0001g0042 a0001c0003t0002g0054	4	188	0.0213	27	c.541 others(46): Show c.541+20797_541+20798insAAAAAAAAAAAAAAAAAAAAAAAAAA A	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9480895	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG03098.hp2 others(2): Show HG01243.hp1 HG02258.hp1 HG03098.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0010 a0001c0002t0001g0051 a0001c0003t0001g0004 others(2): Show a0001c0002t0001g0010 a0001c0002t0001g0051 a0001c0003t0001g0004 a0001c0003t0001g0041 a0001c0003t0001g0050	5	188	0.0266	27	c.541 others(46): Show c.541+10933_541+10934insGAAAGAAAGAAAGAAAGAAAGAAAGA A	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9503105	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	188	0.0053	27	c.448 others(44): Show c.448+1932_448+1933insTTTTTTTTTTTTTTTTTTTTTTTTTTT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	5/7			chr17	TogoVar

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Search Results (Total: 7463 hits)