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
VPS35L_chr16_19550703_19706163	19666919	T T	TCTTCCTT others(37): Show TCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	284	0.0035	44	c.222 others(63): Show c.2222-2238_2222-2237insCCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTTCCTTTCTTCCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS35L_chr16_19550703_19706163	19666927	T T	TCTTCCTT others(37): Show TCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp1 HG02109.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0002g0079 a0001c0001t0001g0015 a0001c0001t0002g0079	2	284	0.0070	44	c.222 others(63): Show c.2222-2230_2222-2229insCCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTTCCTTTCTTCCTT	VPS35L	ENSG00000103544.17	transcript	ENST00000417362.7	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS53_chr17_503668_719839	662834	A A	AAAGAGAA others(37): Show AAAGAGAAAGAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0046 a0001c0005t0046	a0001c0005t0046g0011 a0001c0005t0046g0011	1	232	0.0043	44	c.286 others(59): Show c.286-940_286-939insCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC TTTCTCTTTCTCTT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	4/21			chr17	TogoVar
VPS8_chr3_184807166_185057604	184842186	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	274	0.0037	44	c.536 others(61): Show c.536-1031_536-1030insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VSIR_chr10_71742556_71778520	71760104	T T	TATATATA others(37): Show TATATATACACACACACATATATACACACACACACACATATACAC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	462	0.0022	44	c.568 others(59): Show c.568+763_568+764insGTGTATATGTGTGTGTGTGTGTATATATGT GTGTGTGTATATAT	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6			chr10	TogoVar
VTI1A_chr10_112442215_112823744	112455224	T T	TCCCTCCC others(37): Show TCCCTCCCCCCCCTCCCCTCACCTCCCTCCCCTCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	168	0.0060	44	c.95- others(59): Show c.95-5299_95-5298insCCTCCCCCCCCTCCCCTCACCTCCCTCCCC TCCCTCCCCTCCCC	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VTI1A_chr10_112442215_112823744	112618524	T T	TATATAGA others(37): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	168	0.0060	44	c.428 others(63): Show c.428-49693_428-49692insTATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGA	VTI1A	ENSG00000151532.15	transcript	ENST00000393077.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWC2_chr7_49768638_49926950	49877481	A A	AAAAAATA others(37): Show AAAAAATATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	256	0.0039	44	c.827 others(63): Show c.827-34552_827-34551insAAAATATACATATATATATATATATA TATATATATATATATATA	VWC2	ENSG00000188730.5	transcript	ENST00000340652.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VWF_chr12_5943877_6129670	5964234	A A	ACATGCAT others(37): Show ACATGCATGCATGCATGCATACATACATACATGCATGCATGCATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG03540.hp2 HG02451.hp2 HG02922.hp1 HG03540.hp2	a0033 a0042 a0033 a0042	a0033c0025 a0042c0059 a0033c0025 a0042c0059	a0033c0025t0001 a0042c0059t0001 a0033c0025t0001 a0042c0059t0001	a0033c0025t0001g0178 a0033c0025t0001g0180 a0042c0059t0001g0129 a0033c0025t0001g0178 a0033c0025t0001g0180 a0042c0059t0001g0129	3	288	0.0104	44	c.788 others(63): Show c.7887+3251_7887+3252insCATGCATGCATGCATGTATGTATGTA TGCATGCATGCATGCATG	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	47/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092618	A A	AGTGAGAG others(37): Show AGTGAGAGTGAGAGTGAGAGTGAGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0050 a0050	a0050c0050 a0050c0050	a0050c0050t0001 a0050c0050t0001	a0050c0050t0001g0008 a0050c0050t0001g0008	1	288	0.0035	44	c.657 others(61): Show c.657+2841_657+2842insACACTCTCTCTCTCTCTCTCTCTCACTC TCACTCTCACTCTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092618	A A	AGTGAGAG others(37): Show AGTGAGAGTGAGAGTGAGAGTGAGAGAGAGAGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0068 a0068	a0068c0146 a0068c0146	a0068c0146t0001 a0068c0146t0001	a0068c0146t0001g0206 a0068c0146t0001g0206	1	288	0.0035	44	c.657 others(61): Show c.657+2841_657+2842insACACACACACTCTCTCTCTCTCTCACTC TCACTCTCACTCTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6092618	A A	AGTGAGAG others(37): Show AGTGAGAGTGAGAGTGAGAGTGAGAGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0018 a0018	a0018c0058 a0018c0058	a0018c0058t0001 a0018c0058t0001	a0018c0058t0001g0018 a0018c0058t0001g0018	1	288	0.0035	44	c.657 others(61): Show c.657+2841_657+2842insACACACACACACTCTCTCTCTCTCACTC TCACTCTCACTCTCAC	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	6/51			chr12	TogoVar
VWF_chr12_5943877_6129670	6103422	G G	GTATACAC others(37): Show GTATACACGTGTGTATATACACACGTGTGTGTATACACGTGTGTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp1 HG03516.hp2 HG02717.hp1 HG03130.hp1 HG03516.hp2	a0019 a0098 a0099 a0019 a0098 a0099	a0019c0019 a0098c0171 a0099c0170 a0019c0019 a0098c0171 a0099c0170	a0019c0019t0001 a0098c0171t0001 a0099c0170t0001 a0019c0019t0001 a0098c0171t0001 a0099c0170t0001	a0019c0019t0001g0153 a0098c0171t0001g0161 a0099c0170t0001g0162 a0019c0019t0001g0153 a0098c0171t0001g0161 a0099c0170t0001g0162	3	288	0.0104	44	c.532 others(61): Show c.532+6951_532+6952insTACACACGTGTATACACACACGTGTGTA TATACACACGTGTATA	VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	5/51			chr12	TogoVar
WASHC2C_chr10_45722266_45797964	45749836	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19030.hp2 HG03098.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0263 a0001c0001t0011g0264 a0001c0001t0001g0263 a0001c0001t0011g0264	2	380	0.0053	44	c.733 others(59): Show c.733-259_733-258insAAAAAAAAAATATATATATATATATATATA TATATATATATATA	WASHC2C	ENSG00000172661.20	transcript	ENST00000623400.4	protein_coding	8/30		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDFY4_chr10_48679873_48987956	48923506	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	202	0.0050	44	c.758 others(65): Show c.7587-18293_7587-18292insATATATATATATATATATATATAT ATATATATGTATGTATATAT	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	47/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDHD1_chr14_54933949_55032099	55003587	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	286	0.0035	44	c.601 others(61): Show c.601-1403_601-1402insTATATATATATATATATATATATATATA TATATATATATATATA	WDHD1	ENSG00000198554.12	transcript	ENST00000360586.8	protein_coding	7/25			chr14	TogoVar
WDR27_chr6_169452212_169707029	169462490	G G	GAGAGAGA others(37): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0059 a0003c0002t0005g0059	1	294	0.0034	44	c.264 others(63): Show c.2646-4857_2646-4856insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTCT	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	25/25			chr6	TogoVar
WDR33_chr2_127696027_127816171	127711780	A A	AGATATAT others(37): Show AGATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0024 a0001c0001t0017g0024	1	318	0.0031	44	c.330 others(63): Show c.3308+1802_3308+1803insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATC	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	18/21			chr2	TogoVar
WDR37_chr10_1051385_1137372	1069389	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	362	0.0028	44	c.-40 others(61): Show c.-40-2726_-40-2725insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR37_chr10_1051385_1137372	1069389	A A	ATATATAT others(37): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0180 a0001c0005t0008g0180	1	362	0.0028	44	c.-40 others(61): Show c.-40-2726_-40-2725insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTT	WDR37	ENSG00000047056.18	transcript	ENST00000263150.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR44_chrX_118341106_118454961	118368459	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0217 a0001c0003t0003g0217	1	293	0.0034	44	c.78- others(59): Show c.78-9938_78-9937insTATATATATATATATATATATATATATATA TATATATATATATA	WDR44	ENSG00000131725.14	transcript	ENST00000254029.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chrX	TogoVar
WDR45B_chr17_82609562_82653444	82648833	A A	AGGCGGGG others(37): Show AGGCGGGGCGGGGGGGAGGGGGAGGGGCGGGGGGGGAGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG04228.hp2 NA19066.hp1 HG00673.hp1 HG04228.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0041 a0001c0002t0002g0054 a0001c0002t0002g0066 a0001c0001t0002g0041 a0001c0002t0002g0054 a0001c0002t0002g0066	3	382	0.0079	44	c.-49 others(53): Show c.-494_-493insCCTCCCCCTCCCCCCCCGCCCCTCCCCCTCCCCCCC GCCCCGCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		390		chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648833	A A	AGGCGGGG others(37): Show AGGCGGGGCGGGGGGGGAGGGGGAGGGGCGGGGGGGAGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01123.hp2 NA19002.hp2 others(2): Show HG00140.hp2 HG01123.hp2 NA19002.hp2 NA19083.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0058 a0001c0002t0002g0079 others(2): Show a0001c0002t0002g0031 a0001c0002t0002g0058 a0001c0002t0002g0079 a0001c0002t0002g0082 a0001c0002t0002g0223	5	382	0.0131	44	c.-49 others(53): Show c.-494_-493insCCTCCCCCTCCCCCCCGCCCCTCCCCCTCCCCCCCC GCCCCGCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		390		chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648849	A A	AGGGGGAG others(37): Show AGGGGGAGGGGCGGGGCGGGGAGGAGGGGGAGGGGCGGGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01109.hp1 HG00408.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0338 a0001c0001t0001g0318 a0001c0001t0001g0338	2	382	0.0052	44	c.-51 others(53): Show c.-510_-509insCTCCTCCCCGCCCCTCCCCCTCCTCCCCGCCCCGCC CCTCCCCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		406		chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648855	A A	AGGGGCGG others(37): Show AGGGGCGGGGCGGGGAGGAGGGGGAGGGGCGGGGAGGAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	382	0.0026	44	c.-51 others(53): Show c.-516_-515insCTCCCCCTCCTCCCCGCCCCTCCCCCTCCTCCCCGC CCCGCCCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		412		chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648862	G G	GGGAGAGG others(37): Show GGGAGAGGAGGGGGGAGGGGCGGGGGAGGAGGGGGAGGGCGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	382	0.0026	44	c.-52 others(53): Show c.-523_-522insACCGCGCCCTCCCCCTCCTCCCCCGCCCCTCCCCCC TCCTCTCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		419		chr17	TogoVar
WDR59_chr16_74866362_74990123	74906313	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0118 a0001c0001t0058g0118	1	294	0.0034	44	c.171 others(63): Show c.1713-2214_1713-2213insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	WDR59	ENSG00000103091.15	transcript	ENST00000262144.11	protein_coding	17/25			chr16	TogoVar
WDR70_chr5_37374318_37758435	37514356	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	242	0.0041	44	c.841 others(61): Show c.841-2155_841-2154insATATATATATATATATATATATATATAT ATATATATATATGTAT	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR72_chr15_53508741_53764663	53515015	A A	ATATATAT others(37): Show ATATATATATATATACACACATATATATGTGTATATATATGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02976.hp2 HG03041.hp2 others(1): Show HG02572.hp1 HG02976.hp2 HG03041.hp2 HG03453.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0015 a0009c0012t0015	a0009c0012t0015g0003 a0009c0012t0015g0264 a0009c0012t0015g0265 others(1): Show a0009c0012t0015g0003 a0009c0012t0015g0264 a0009c0012t0015g0265 a0009c0012t0015g0266	4	316	0.0127	44	c.26 others(55): Show c.2683_*2684insCACACATATATATACACATATATATGTGTGTATA TATATATATA	WDR72	ENSG00000166415.15	transcript	ENST00000360509.10	protein_coding	20/20	2683		chr15	TogoVar
WDR72_chr15_53508741_53764663	53515049	A A	ATATGTGT others(37): Show ATATGTGTGTATATATATACACACATATATATGTGTATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0069 a0002c0001t0069	a0002c0001t0069g0212 a0002c0001t0069g0212	1	316	0.0032	44	c.26 others(55): Show c.2649_*2650insCATATATATACACATATATATGTGTGTATATATA TACACACATA	WDR72	ENSG00000166415.15	transcript	ENST00000360509.10	protein_coding	20/20	2649		chr15	TogoVar
WDR81_chr17_1719704_1743585	1740341	G G	GGGAAGGG others(37): Show GGGAAGGGCCTGATGCAGGGTAGTGAGGCGCAGGACAGTGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0016 a0016	a0016c0051 a0016c0051	a0016c0051t0011 a0016c0051t0011	a0016c0051t0011g0015 a0016c0051t0011g0015	1	431	0.0023	44	c.26 others(55): Show c.2656_*2657insGGAAGGGCCTGATGCAGGGTAGTGAGGCGCAGGA CAGTGAGGGT	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1757		chr17	TogoVar
WDR86_chr7_151376124_151415038	151402070	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0290	1	458	0.0022	44	c.164 others(61): Show c.164-1830_164-1829insATATATATATATATATATATATATATAT ATATATTTTTTTTTTT	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	1/5			chr7	TogoVar
WDR90_chr16_644365_672830	660998	C C	CCCGCCCG others(37): Show CCCGCCCGGCCTCAGGCCCCGCCCCCTGTTCGGCCCCTCCCCAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG03209.hp2 others(5): Show HG02559.hp1 HG02559.hp2 HG03209.hp2 HG03225.hp1 NA18945.hp1 NA18994.hp2 NA19064.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0007 others(2): Show a0002c0002 a0002c0005 a0002c0007 a0002c0010 a0002c0011	a0002c0002t0001 a0002c0005t0001 a0002c0007t0001 others(2): Show a0002c0002t0001 a0002c0005t0001 a0002c0007t0001 a0002c0010t0001 a0002c0011t0001	a0002c0002t0001g0069 a0002c0002t0001g0097 a0002c0002t0001g0105 others(5): Show a0002c0002t0001g0069 a0002c0002t0001g0097 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0005t0001g0260 a0002c0007t0001g0164 a0002c0010t0001g0128 a0002c0011t0001g0106	8	376	0.0213	44	c.339 others(59): Show c.3392-52_3392-51insCGCCCGGCCTCAGGCCCCGCCCCCTGTTCG GCCCCTCCCCAGGC	WDR90	ENSG00000161996.19	transcript	ENST00000293879.9	protein_coding	28/40		INFO_REALIGN_3_PRIME	chr16	TogoVar
WDR90_chr16_644365_672830	660999	C C	CCCGCCCG others(37): Show CCCGCCCGGCCTCAGGCCCCGCCCCCTGTTCGGCCCCTCCCCAGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02080.hp1 HG02145.hp2 others(3): Show HG01106.hp1 HG02080.hp1 HG02145.hp2 HG02896.hp1 NA19057.hp1 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0011 a0002c0002 a0002c0005 a0002c0011	a0002c0002t0001 a0002c0005t0001 a0002c0011t0001 a0002c0002t0001 a0002c0005t0001 a0002c0011t0001	a0002c0002t0001g0023 a0002c0002t0001g0102 a0002c0002t0001g0137 others(3): Show a0002c0002t0001g0023 a0002c0002t0001g0102 a0002c0002t0001g0137 a0002c0002t0001g0142 a0002c0005t0001g0263 a0002c0011t0001g0023	6	376	0.0160	44	c.339 others(59): Show c.3392-52_3392-51insCCGCCCGGCCTCAGGCCCCGCCCCCTGTTC GGCCCCTCCCCAGG	WDR90	ENSG00000161996.19	transcript	ENST00000293879.9	protein_coding	28/40			chr16	TogoVar
WDR90_chr16_644365_672830	661000	G G	GCCCGGCC others(37): Show GCCCGGCCTCAGGCCCCGCCCCCTGTTCGGCCCCTCCCCAGGCCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03579.hp1 NA20300.hp1 HG01106.hp2 HG03579.hp1 NA20300.hp1	a0002 a0048 a0002 a0048	a0002c0002 a0002c0004 a0048c0039 a0002c0002 a0002c0004 a0048c0039	a0002c0002t0001 a0002c0004t0001 a0048c0039t0001 a0002c0002t0001 a0002c0004t0001 a0048c0039t0001	a0002c0002t0001g0133 a0002c0004t0001g0087 a0048c0039t0001g0085 a0002c0002t0001g0133 a0002c0004t0001g0087 a0048c0039t0001g0085	3	376	0.0080	44	c.339 others(59): Show c.3392-48_3392-47insGGCCTCAGGCCCCGCCCCCTGTTCGGCCCC TCCCCAGGCCCCCC	WDR90	ENSG00000161996.19	transcript	ENST00000293879.9	protein_coding	28/40		INFO_REALIGN_3_PRIME	chr16	TogoVar
WFDC5_chr20_45104463_45120174	45116613	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02976.hp1 HG02976.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0063 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0063	3	428	0.0070	44	c.-15 others(55): Show c.-1531_-1530insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	WFDC5	ENSG00000175121.12	transcript	ENST00000372789.6	protein_coding		1440		chr20	TogoVar
WNK3_chrX_54187823_54363046	54347667	T T	TATATATA others(37): Show TATATATATATACACATATATATATATACACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG06807.hp2 HG02809.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0153 a0002c0002t0002g0154	2	156	0.0128	44	c.-12 others(64): Show c.-120+9975_-120+10018dupGTGTATATATATATGTGTATATATA TATATGTGTATATATATAT	WNK3	ENSG00000196632.12	transcript	ENST00000354646.7	protein_coding	1/23			chrX	TogoVar
WRN_chr8_31028810_31181138	31174795	C C	CCCTTCCT others(37): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp2 HG02258.hp2 HG03239.hp2 HG02165.hp2 HG02258.hp2 HG03239.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0005c0012 a0001c0001 a0005c0008 a0005c0012	a0001c0001t0060 a0005c0008t0062 a0005c0012t0076 a0001c0001t0060 a0005c0008t0062 a0005c0012t0076	a0001c0001t0060g0210 a0005c0008t0062g0213 a0005c0012t0076g0257 a0001c0001t0060g0210 a0005c0008t0062g0213 a0005c0012t0076g0257	3	264	0.0114	44	c.17 others(55): Show c.1720_*1721insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	WRN	ENSG00000165392.11	transcript	ENST00000298139.7	protein_coding	35/35	1721	INFO_REALIGN_3_PRIME	chr8	TogoVar
WWC1_chr5_168286645_168477303	168339806	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0007 a0002c0014t0007	a0002c0014t0007g0067 a0002c0014t0007g0067	1	254	0.0039	44	c.120 others(63): Show c.120-31591_120-31590insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	WWC1	ENSG00000113645.15	transcript	ENST00000265293.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
WWOX_chr16_78094654_79217667	78144490	C C	CGTATATA others(37): Show CGTATATATATATATATATATATATACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	142	0.0070	44	c.410 others(63): Show c.410-19693_410-19692insGTATATATATATATATATATATATAC ACACATATATATATATAT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	4/8			chr16	TogoVar
WWOX_chr16_78094654_79217667	78859048	A A	ATATATAT others(37): Show ATATATATATATGTATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0102 a0001c0001t0013g0102	1	142	0.0070	44	c.105 others(67): Show c.1057-352559_1057-352558insATATATATATGTATATATATAT ATATATATATATATATATATGT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWOX_chr16_78094654_79217667	78930225	T T	TCCTTCCT others(37): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	142	0.0070	44	c.105 others(67): Show c.1057-281342_1057-281341insTGACCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
WWOX_chr16_78094654_79217667	78930229	T T	TCCTTCCT others(37): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0094 a0013c0015t0001g0094	1	142	0.0070	44	c.105 others(67): Show c.1057-281339_1057-281338insCTGACCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
XDH_chr2_31329321_31419742	31329546	A A	AGGCATGT others(37): Show AGGCATGTCCTTTCCCCTGGATTCTGAGACCAAGATGGAGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	370	0.0027	44	c.64 others(55): Show c.6411_*6412insCATCCCTCCATCTTGGTCTCAGAATCCAGGGGAA AGGACATGCC	XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding		4774		chr2	TogoVar
XG_chrX_2747040_2821500	2817102	A A	AGACAGAG others(37): Show AGACAGAGAGGGAGGGAGGGAGGGAGAGACAGAGAGGGAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	322	0.0031	44	c.27 others(55): Show c.2722_*2723insGACAGAGAGGGAGGGAGGGAGGGAGAGACAGAGA GGGAGGGAGG	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding		603		chrX	TogoVar
XIAP_chrX_123855053_123918972	123899155	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATGATTTTATATATATGATTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0233 a0001c0001t0005g0233	1	286	0.0035	44	c.110 others(63): Show c.1100-1327_1100-1326insATATATATATATATGATTTTATATAT ATGATTTTATATATATAT	XIAP	ENSG00000101966.14	transcript	ENST00000371199.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
XKR4_chr8_55097028_55547054	55247835	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18970.hp1 NA18949.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0122 a0001c0001t0102 a0001c0001t0122	a0001c0001t0102g0055 a0001c0001t0122g0045 a0001c0001t0102g0055 a0001c0001t0122g0045	2	182	0.0110	44	c.807 others(65): Show c.807-109820_807-109819insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	XKR4	ENSG00000206579.10	transcript	ENST00000327381.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
XKR7_chr20_31963151_32008387	31986058	A A	ACACAGAC others(37): Show ACACAGACAGACAGACAGACCACTAAACAGATCCAGTATCCAAGG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG06807.hp2 HG01934.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0097 a0001c0001t0001g0098	2	304	0.0066	44	c.585 others(61): Show c.585-8995_585-8994insAGACCACTAAACAGATCCAGTATCCAAG GCACAGACAGACAGAC	XKR7	ENSG00000260903.3	transcript	ENST00000562532.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
XKRX_chrX_100908445_100933917	100917674	A A	AAAGAAAA others(37): Show AAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	297	0.0034	44	c.605 others(61): Show c.605-2592_605-2591insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTCTT	XKRX	ENSG00000182489.9	transcript	ENST00000372956.3	protein_coding	2/2			chrX	TogoVar
XKRX_chrX_100908445_100933917	100917674	A A	AAAGAAAG others(37): Show AAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	297	0.0034	44	c.605 others(61): Show c.605-2592_605-2591insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCTT	XKRX	ENSG00000182489.9	transcript	ENST00000372956.3	protein_coding	2/2			chrX	TogoVar

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Search Results (Total: 4475 hits)