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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
H2AZ2_chr7_44826978_44853087	44846024	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	406	0.0025	-16	c.3+1 others(29): Show c.3+1929_3+1944delGTGTGTGTGTGTGTGT		H2AZ2	ENSG00000105968.19	transcript	ENST00000308153.9	protein_coding	1/4						chr7	TogoVar
H2AZ2_chr7_44826978_44853087	44846048	CACACACA others(9): Show CACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 NA18522.hp1 HG01109.hp1 HG02257.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0009 a0001c0001t0017	a0001c0001t0009g0174 a0001c0001t0017g0046 a0001c0001t0009g0174 a0001c0001t0017g0046	3	406	0.0074	-16	c.3+1 others(29): Show c.3+1905_3+1920delCTGTGTGTGTGTGTGT		H2AZ2	ENSG00000105968.19	transcript	ENST00000308153.9	protein_coding	1/4						chr7	TogoVar
H2BC12_chr6_27141361_27151855	27145295	TACACACA others(9): Show TACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03516.hp2 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	384	0.0052	-16	c.11 others(27): Show c.1107_*1122delGTGTGTGTGTGTGTGT		H2BC12	ENSG00000197903.8	transcript	ENST00000356950.2	protein_coding					1065		chr6	TogoVar
H2BC15_chr6_27833569_27844110	27840742	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	-16	c.17 others(27): Show c.1701_*1716delAAATAAATAAATAAAT		H2BC15	ENSG00000233822.6	transcript	ENST00000612898.2	protein_coding					1633		chr6	TogoVar
H2BN1_chr17_32890433_32911586	32895549	GAGAAAGA others(9): Show GAGAAAGAAGAGGAGGA	G G	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	1	426	0.0024	-16	c.120 others(23): Show c.120_135delAAAGAAGAGGAGGAAG	p.Lys others(4): Show p.Lys42fs	H2BN1	ENSG00000290320.1	transcript	ENST00000704639.1	protein_coding	1/2	120/570	120/357	40/118		INFO_REALIGN_3_PRIME	chr17	TogoVar
H3C11_chr6_27866845_27877346	27876576	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02572.hp1 HG02602.hp2 others(8): Show HG00733.hp2 HG02572.hp1 HG02602.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG03139.hp1 NA18948.hp1 NA18959.hp1 NA19005.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	11	374	0.0294	-16	c.-42 others(27): Show c.-4277_-4262delTTTTTTTTTTTTTTTT		H3C11	ENSG00000275379.2	transcript	ENST00000616365.2	protein_coding					4231		chr6	TogoVar
H3C15_chr1_149847608_149858125	149855384	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG03579.hp1 HG01515.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	332	0.0060	-16	c.23 others(27): Show c.2320_*2335delGTGTGTGTGTGTGTGT		H3C15	ENSG00000203852.4	transcript	ENST00000403683.2	protein_coding					2260		chr1	TogoVar
H3C6_chr6_26220135_26230616	26226361	CTTATTTA others(9): Show CTTATTTATTTATTTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18990.hp1 NA18975.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	354	0.0057	-16	c.79 others(25): Show c.797_*812delTTATTTATTTATTTAT		H3C6	ENSG00000274750.3	transcript	ENST00000614911.3	protein_coding					746		chr6	TogoVar
H4C13_chr6_27868148_27878534	27876576	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02572.hp1 HG02602.hp2 others(9): Show HG00733.hp2 HG02572.hp1 HG02602.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG03139.hp2 NA18939.hp1 NA18948.hp1 NA18959.hp1 NA19005.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	12	384	0.0313	-16	c.-30 others(27): Show c.-3082_-3067delTTTTTTTTTTTTTTTT		H4C13	ENSG00000275126.2	transcript	ENST00000618305.2	protein_coding					3043		chr6	TogoVar
H4C15_chr1_149855764_149866159	149865950	AGAAAGAA others(9): Show AGAAAGAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-16	c.-48 others(27): Show c.-4835_-4820delCTTTCTTTCTTCTTTC		H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding					4792		chr1	TogoVar
H4C15_chr1_149855764_149866159	149865951	GAAAGAAG others(9): Show GAAAGAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	206	0.0049	-16	c.-48 others(27): Show c.-4836_-4821delTCTTTCTTTCTTCTTT		H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding					4793		chr1	TogoVar
H4C15_chr1_149855764_149866159	149865955	GAAGAAAG others(9): Show GAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG03239.hp2 others(3): Show HG01884.hp1 HG02109.hp2 HG03239.hp2 HG03834.hp2 HG06807.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	206	0.0291	-16	c.-48 others(27): Show c.-4840_-4825delTCTTTCTTTCTTTCTT		H4C15	ENSG00000270276.3	transcript	ENST00000579512.3	protein_coding					4797		chr1	TogoVar
HAAO_chr2_42762089_42797583	42780826	GGGAGGCC others(9): Show GGGAGGCCAAGGCGGGT	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0382 a0002c0002t0001g0382	1	410	0.0024	-16	c.350 others(33): Show c.350+2472_350+2487delACCCGCCTTGGCCTCC		HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding	4/9						chr2	TogoVar
HABP4_chr9_96445169_96496336	96456780	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18969.hp2 HG02451.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0212 a0001c0003t0003g0037 a0001c0001t0001g0212 a0001c0003t0003g0037	2	306	0.0065	-16	c.350 others(33): Show c.350-1572_350-1557delATATATATATATATAT		HABP4	ENSG00000130956.14	transcript	ENST00000375249.5	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
HACD1_chr10_17584032_17622374	17613097	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0246 a0001c0005t0017g0246	1	410	0.0024	-16	c.257 others(33): Show c.257+3970_257+3985delACACACACACACACAC		HACD1	ENSG00000165996.14	transcript	ENST00000361271.8	protein_coding	1/6						chr10	TogoVar
HACD2_chr3_123486554_123590053	123563642	TATACACA others(9): Show TATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00735.hp1 others(4): Show HG00099.hp1 HG00642.hp2 HG00735.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0305 a0001c0003t0007g0306 a0001c0003t0007g0307 others(4): Show a0001c0003t0007g0305 a0001c0003t0007g0306 a0001c0003t0007g0307 a0001c0003t0007g0308 a0001c0003t0007g0309 a0001c0003t0007g0310 a0001c0003t0007g0311	7	350	0.0200	-16	c.292 others(33): Show c.292+4104_292+4119delGTGTGTGTGTGTGTAT		HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6						chr3	TogoVar
HACD2_chr3_123486554_123590053	123569988	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18970.hp1 HG01433.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0191 a0001c0002t0004g0099 a0001c0001t0002g0191 a0001c0002t0004g0099	2	350	0.0057	-16	c.274 others(33): Show c.274-2224_274-2209delTTTTTTTTTTTTTTTT		HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	2/6						chr3	TogoVar
HACD3_chr15_65525463_65583349	65537950	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0184 a0001c0001t0007g0184	1	328	0.0031	-16	c.87+ others(31): Show c.87+7234_87+7249delAAAAAAAATATATATA		HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
HACE1_chr6_104723094_104864919	104831980	GAGGAAGG others(9): Show GAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	346	0.0029	-16	c.534 others(33): Show c.534+1046_534+1061delTCCTTCCTTCCTTCCT		HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23						chr6	TogoVar
HADH_chr4_107984889_108040171	108039253	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0151 a0001c0001t0001g0012 a0001c0001t0001g0151	2	304	0.0066	-16	c.48 others(27): Show c.4897_*4912delTTTATTTATTTATTTA		HADH	ENSG00000138796.18	transcript	ENST00000309522.8	protein_coding					4083		chr4	TogoVar
HAGH_chr16_1802629_1831825	1804246	CTATATAT others(9): Show CTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	436	0.0023	-16	c.50 others(27): Show c.5021_*5036delTATATATATATATATA		HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding					3382		chr16	TogoVar
HAO1_chr20_7877985_7945458	7929059	TTTTGTTT others(9): Show TTTTGTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02602.hp2 others(1): Show HG02109.hp2 HG02145.hp1 HG02602.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 others(1): Show a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193	4	348	0.0115	-16	c.289 others(33): Show c.289+5409_289+5424delCAAACAAACAAACAAA		HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	2/7						chr20	TogoVar
HAO1_chr20_7877985_7945458	7936503	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	348	0.0029	-16	c.138 others(33): Show c.138-1884_138-1869delACACACACACACACAC		HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	1/7						chr20	TogoVar
HAP1_chr17_41717640_41739643	41733028	GTTTTTTT others(9): Show GTTTTTTTTGGTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0168 a0004c0004t0002g0168	1	374	0.0027	-16	c.470 others(31): Show c.470-246_470-231delAAAAAACCAAAAAAAA		HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	1/10						chr17	TogoVar
HAPLN1_chr5_83632805_83725855	83648395	CTATATAT others(9): Show CTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0049 a0005c0006t0049	a0005c0006t0049g0369 a0005c0006t0049g0369	1	372	0.0027	-16	c.473 others(33): Show c.473-3746_473-3731delTATATATATATATATA		HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	3/4						chr5	TogoVar
HARBI1_chr11_46597861_46622227	46622076	CATATATA others(9): Show CATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02559.hp2 HG03139.hp1 others(5): Show HG00738.hp2 HG02559.hp2 HG03139.hp1 HG04184.hp1 HG04184.hp2 NA18983.hp1 NA19030.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0088 a0001c0001t0001g0144	8	258	0.0310	-16	c.-51 others(27): Show c.-5113_-5098delATATATATATATATAT		HARBI1	ENSG00000180423.4	transcript	ENST00000326737.3	protein_coding					4850		chr11	TogoVar
HAS3_chr16_69100653_69122660	69104992	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA19000.hp1 NA18953.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0103 a0001c0001t0001g0004 a0001c0001t0001g0103	2	410	0.0049	-16	c.-79 others(25): Show c.-795_-780delTTTTTTTTTTTTTTTT		HAS3	ENSG00000103044.11	transcript	ENST00000569188.6	protein_coding					660		chr16	TogoVar
HAS3_chr16_69100653_69122660	69111157	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01943.hp2 others(5): Show HG00642.hp1 HG01070.hp1 HG01943.hp2 NA18954.hp2 NA18983.hp1 NA18989.hp2 NA19057.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0071 a0001c0002t0002g0008 a0001c0002t0002g0071	8	410	0.0195	-16	c.636 others(33): Show c.636+1143_636+1158delTTTTTTTTTTTTTTTT		HAS3	ENSG00000103044.11	transcript	ENST00000569188.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
HAT1_chr2_171917461_171988686	171938024	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp1 HG02145.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0319 a0001c0001t0001g0248 a0001c0001t0001g0319	2	326	0.0061	-16	c.113 others(33): Show c.113-8648_113-8633delCTCTCTCTCTCTCTCT		HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171938060	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	326	0.0031	-16	c.113 others(33): Show c.113-8646_113-8631delCTCTCTCTCTCTCTTT		HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171970496	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	326	0.0031	-16	c.823 others(33): Show c.823+3573_823+3588delTTTTTTTTTTTTTTTT		HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS1_chr18_46099385_46133333	46126801	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp1 HG03540.hp1 HG02723.hp2 HG02809.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067	3	372	0.0081	-16	c.786 others(33): Show c.786+1041_786+1056delTATTTATTTATTTATT		HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS2_chr15_42543838_42574994	42565387	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG00735.hp2 others(36): Show HG00639.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01243.hp1 HG01361.hp1 HG01516.hp2 HG01891.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp1 HG02602.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18990.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 others(4): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0004t0003	a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 others(32): Show a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0034 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0123 a0001c0001t0006g0009 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0016g0060 a0001c0001t0016g0068 a0001c0001t0020g0053 a0001c0001t0020g0054 a0001c0001t0024g0052 a0001c0001t0025g0036 a0001c0004t0003g0035	39	350	0.1114	-16	c.499 others(33): Show c.499-1190_499-1175delGTGTGTGTGTGTGTGT		HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
HAUS2_chr15_42543838_42574994	42574020	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	350	0.0029	-16	c.72 others(27): Show c.7205_*7220delAAAAAAAAAAAAAAAA		HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding					4027		chr15	TogoVar
HAUS8_chr19_17044729_17080452	17055137	AAAAAAAA others(9): Show AAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0365 a0001c0003t0002g0365	1	400	0.0025	-16	c.787 others(31): Show c.787+708_787+723delATATATATATTTTTTT		HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10						chr19	TogoVar
HAUS8_chr19_17044729_17080452	17055139	AAAAAATA others(9): Show AAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0144 a0002c0001t0001g0144	1	400	0.0025	-16	c.787 others(31): Show c.787+706_787+721delATATATATATATTTTT		HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10						chr19	TogoVar
HAUS8_chr19_17044729_17080452	17055141	AAAATATA others(9): Show AAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0290 a0002c0001t0001g0290	1	400	0.0025	-16	c.787 others(31): Show c.787+704_787+719delATATATATATATATTT		HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10						chr19	TogoVar
HAUS8_chr19_17044729_17080452	17055143	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02818.hp1 HG03540.hp2 others(1): Show HG02135.hp2 HG02818.hp1 HG03540.hp2 NA19240.hp1	a0002 a0005 a0002 a0005	a0002c0001 a0005c0008 a0002c0001 a0005c0008	a0002c0001t0001 a0005c0008t0002 a0002c0001t0001 a0005c0008t0002	a0002c0001t0001g0234 a0005c0008t0002g0022 a0005c0008t0002g0370 a0002c0001t0001g0234 a0005c0008t0002g0022 a0005c0008t0002g0370	4	400	0.0100	-16	c.787 others(31): Show c.787+702_787+717delATATATATATATATAT		HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10						chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044368	CGAAGGAA others(9): Show CGAAGGAAGGAAGGAAG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02615.hp2 HG02886.hp2 others(7): Show HG01981.hp1 HG02615.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0262 a0001c0001t0001g0263 a0002c0002t0001g0196 others(7): Show a0001c0001t0001g0262 a0001c0001t0001g0263 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204	10	352	0.0284	-16	c.782 others(33): Show c.782-1702_782-1687delCTTCCTTCCTTCCTTC		HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8						chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044468	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01256.hp2 others(15): Show HG00639.hp2 HG00741.hp2 HG01256.hp2 HG01258.hp1 HG01928.hp2 HG01943.hp1 HG02040.hp1 HG02080.hp2 HG02148.hp2 HG02258.hp1 HG02630.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp2 HG03927.hp2 NA18939.hp2 NA18960.hp1 NA18985.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0011 a0003c0003 others(1): Show a0002c0002 a0002c0011 a0003c0003 a0004c0007	a0002c0002t0001 a0002c0011t0002 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0011t0002 a0003c0003t0001 a0004c0007t0001	a0002c0002t0001g0059 a0002c0002t0001g0065 a0002c0002t0001g0090 others(14): Show a0002c0002t0001g0059 a0002c0002t0001g0065 a0002c0002t0001g0090 a0002c0002t0001g0253 a0002c0011t0002g0002 a0003c0003t0001g0105 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0270 a0003c0003t0001g0274 a0003c0003t0001g0288 a0003c0003t0001g0292 a0003c0003t0001g0297 a0003c0003t0001g0304 a0003c0003t0001g0318 a0003c0003t0001g0330 a0004c0007t0001g0268	18	352	0.0511	-16	c.782 others(33): Show c.782-1802_782-1787delCCTTCCTTCCTTCCTT		HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8						chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044607	GAAAGAAA others(9): Show GAAAGAAAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0212 a0006c0006t0005g0212	1	352	0.0028	-16	c.782 others(33): Show c.782-1941_782-1926delTTCTTTCTCTTTCTTT		HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8						chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044611	GAAAGAGA others(9): Show GAAAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01981.hp2 HG02074.hp2 others(2): Show HG01109.hp1 HG01981.hp2 HG02074.hp2 NA19007.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0269 a0003c0003t0001g0273 a0003c0003t0001g0295 others(2): Show a0003c0003t0001g0269 a0003c0003t0001g0273 a0003c0003t0001g0295 a0003c0003t0001g0307 a0003c0003t0001g0308	5	352	0.0142	-16	c.782 others(33): Show c.782-1945_782-1930delTTCTTTCTTTCTCTTT		HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8						chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044615	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0017 a0004c0004t0002g0017	1	352	0.0028	-16	c.782 others(33): Show c.782-1949_782-1934delTTCTTTCTTTCTTTCT		HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8						chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157057382	GAGAGGAA others(9): Show GAGAGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0046 a0006c0006t0003g0046	1	352	0.0028	-16	c.46+ others(29): Show c.46+500_46+515delTTTCTTTCTTTCCTCT		HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	2/8						chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157057386	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp1 others(57): Show HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01123.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02293.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03927.hp1 NA18747.hp1 NA18747.hp2 NA18964.hp2 NA18966.hp1 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18995.hp1 NA18997.hp1 NA19001.hp1 NA19007.hp2 NA19058.hp1 NA19062.hp2 NA19083.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0013	a0001c0001 a0002c0002 a0002c0011 others(5): Show a0001c0001 a0002c0002 a0002c0011 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0011t0002 a0003c0003t0001 a0004c0004t0002 a0005c0005t0001 a0006c0006t0005 a0013c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0109 a0001c0001t0001g0112 others(51): Show a0001c0001t0001g0006 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0002g0034 a0002c0002t0001g0005 a0002c0002t0001g0048 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0193 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0213 a0002c0002t0001g0334 a0002c0011t0002g0002 a0003c0003t0001g0008 a0003c0003t0001g0056 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0120 a0003c0003t0001g0123 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0291 a0003c0003t0001g0292 a0004c0004t0002g0017 a0004c0004t0002g0018 a0005c0005t0001g0001 a0005c0005t0001g0097 a0005c0005t0001g0290 a0006c0006t0005g0212 a0013c0014t0001g0289	60	352	0.1705	-16	c.46+ others(29): Show c.46+496_46+511delTTTCTTTCTTTCTTTC		HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	2/8						chr5	TogoVar
HAVCR2_chr5_157080832_157114044	157092878	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02738.hp2 NA18978.hp1 others(4): Show HG00438.hp1 HG02738.hp2 NA18978.hp1 NA18989.hp1 NA18998.hp2 NA19055.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0106 a0001c0001t0001g0112 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0164 a0001c0001t0001g0270	7	380	0.0184	-16	c.676 others(33): Show c.676+2412_676+2427delTTTTTTTTTTTTTTTT		HAVCR2	ENSG00000135077.10	transcript	ENST00000307851.9	protein_coding	5/6						chr5	TogoVar
HBG1_chr11_5243269_5254857	5248764	ACACACAC others(9): Show ACACACACGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02698.hp2 HG04199.hp2 others(8): Show HG02056.hp1 HG02698.hp2 HG04199.hp2 NA18945.hp2 NA18961.hp1 NA18966.hp1 NA18973.hp2 NA18977.hp2 NA18995.hp2 NA19001.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0035 a0001c0001t0003g0005 a0001c0001t0001g0035 a0001c0001t0003g0005	11	433	0.0254	-16	c.316 others(31): Show c.316-293_316-278delCGCGCGCGCGTGTGTG		HBG1	ENSG00000213934.9	transcript	ENST00000330597.5	protein_coding	2/2						chr11	TogoVar
HBG2_chr11_5248188_5259781	5248764	ACACACAC others(9): Show ACACACACGCGCGCGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02698.hp2 HG04199.hp2 others(8): Show HG02056.hp1 HG02698.hp2 HG04199.hp2 NA18945.hp1 NA18961.hp1 NA18966.hp1 NA18973.hp2 NA18977.hp2 NA18995.hp2 NA19001.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0002g0002 a0001c0001t0001g0015 a0001c0001t0002g0002	11	430	0.0256	-16	c.44 others(27): Show c.4497_*4512delCGCGCGCGCGTGTGTG		HBG2	ENSG00000196565.15	transcript	ENST00000336906.6	protein_coding					4423		chr11	TogoVar
HBM_chr16_160978_171764	164819	GGGCGGGC others(9): Show GGGCGGGCGGGGCGGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA18965.hp2 HG03486.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	370	0.0054	-16	c.-11 others(27): Show c.-1178_-1163delGGCGGGCGGGGCGGCC		HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding					1158		chr16	TogoVar
HBS1L_chr6_134955378_135059822	135027187	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19240.hp1 NA19240.hp2 HG03453.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0008 a0001c0001t0006 a0001c0002t0008	a0001c0001t0006g0022 a0001c0002t0008g0197 a0001c0002t0008g0202 a0001c0001t0006g0022 a0001c0002t0008g0197 a0001c0002t0008g0202	3	348	0.0086	-16	c.430 others(35): Show c.430+12370_430+12385delTTTTTTTTTTTTTTTT		HBS1L	ENSG00000112339.15	transcript	ENST00000367837.10	protein_coding	4/17						chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)