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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AURKB_chr17_8199734_8215575	8214607	T T	TATACACA others(7): Show TATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	428	0.0023	14	c.-41 others(25): Show c.-4104_-4103insGTGTGTGTGTGTAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATACA others(7): Show TATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	428	0.0023	14	c.-41 others(25): Show c.-4104_-4103insGTGTGTGTGTATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(7): Show TATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0073 a0005c0007t0001g0073	1	428	0.0023	14	c.-41 others(25): Show c.-4104_-4103insGTGTGTGTATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(7): Show TATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	428	0.0023	14	c.-41 others(25): Show c.-4104_-4103insGTGTATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(7): Show TAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03225.hp2 NA18998.hp1 HG03098.hp1 HG03225.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0001t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0003g0037 a0001c0004t0001g0015 a0001c0001t0001g0001 a0001c0001t0003g0037 a0001c0004t0001g0015	3	410	0.0073	14	c.41 others(25): Show c.4170_*4171insAGAGAGAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	69870447	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02647.hp2 others(6): Show HG01081.hp2 HG02055.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03139.hp2 HG03540.hp2 HG04199.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 others(4): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0003t0027 a0002c0002t0031	a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0009g0006 others(6): Show a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0028g0021 a0001c0001t0032g0016 a0001c0001t0035g0019 a0001c0003t0027g0009 a0002c0002t0031g0007	9	76	0.1184	14	c.310 others(33): Show c.310-28839_310-28838insTATATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69870448	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG02165.hp2 others(1): Show HG00280.hp1 HG00597.hp1 HG02165.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 a0001c0001t0001 a0001c0001t0003 a0001c0001t0022	a0001c0001t0001g0033 a0001c0001t0001g0071 a0001c0001t0003g0068 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0022g0032	4	76	0.0526	14	c.310 others(33): Show c.310-28833_310-28820dupATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69872834	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG02717.hp2 others(1): Show HG01081.hp2 HG01175.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0029 a0001c0001t0032 others(1): Show a0001c0001t0005 a0001c0001t0029 a0001c0001t0032 a0001c0003t0027	a0001c0001t0005g0015 a0001c0001t0029g0022 a0001c0001t0032g0016 others(1): Show a0001c0001t0005g0015 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0003t0027g0009	4	76	0.0526	14	c.310 others(33): Show c.310-26439_310-26426dupTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876349	A A	AAAAAAAA others(7): Show AAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	76	0.0132	14	c.310 others(33): Show c.310-22936_310-22935insAAAAAATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876349	A A	AAAATATA others(7): Show AAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	76	0.0132	14	c.310 others(33): Show c.310-22936_310-22935insAATATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69888540	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01952.hp2 others(5): Show HG00099.hp2 HG01081.hp2 HG01952.hp2 HG02647.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0005 a0001c0001t0009 a0001c0001t0034 others(3): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0034 a0001c0001t0035 a0001c0003t0027 a0001c0005t0030	a0001c0001t0005g0005 a0001c0001t0005g0015 a0001c0001t0005g0020 others(5): Show a0001c0001t0005g0005 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0009g0023 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0027g0009 a0001c0005t0030g0013	8	76	0.1053	14	c.310 others(33): Show c.310-10727_310-10714dupATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69914356	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0019 a0001c0001t0035g0019	1	76	0.0132	14	c.522 others(33): Show c.522+14884_522+14897dupCACACACACACACA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69978859	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01934.hp1 NA20752.hp2 HG00280.hp2 HG01934.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0004 a0001c0001t0021 a0004c0009t0001 a0001c0001t0004 a0001c0001t0021 a0004c0009t0001	a0001c0001t0004g0042 a0001c0001t0021g0060 a0004c0009t0001g0043 a0001c0001t0004g0042 a0001c0001t0021g0060 a0004c0009t0001g0043	3	76	0.0395	14	c.522 others(33): Show c.522+79390_522+79403dupACACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69996946	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03579.hp1 HG02622.hp1 HG02647.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0034 a0001c0001t0035 a0002c0010t0033 a0001c0001t0034 a0001c0001t0035 a0002c0010t0033	a0001c0001t0034g0018 a0001c0001t0035g0019 a0002c0010t0033g0014 a0001c0001t0034g0018 a0001c0001t0035g0019 a0002c0010t0033g0014	3	76	0.0395	14	c.522 others(33): Show c.522+97453_522+97466dupAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70053544	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG03225.hp1 others(1): Show HG02258.hp1 HG03041.hp1 HG03225.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0018 a0001c0003t0008 a0001c0005t0030 others(1): Show a0001c0001t0018 a0001c0003t0008 a0001c0005t0030 a0002c0002t0036	a0001c0001t0018g0003 a0001c0003t0008g0039 a0001c0005t0030g0013 others(1): Show a0001c0001t0018g0003 a0001c0003t0008g0039 a0001c0005t0030g0013 a0002c0002t0036g0017	4	76	0.0526	14	c.523 others(33): Show c.523-64576_523-64575insTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70245169	T T	TATATATA others(7): Show TATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0027 a0001c0007t0006g0027	1	76	0.0132	14	c.660 others(35): Show c.660+110599_660+110600insTATATATATATAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303434	G G	GCACACAC others(7): Show GCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	76	0.0132	14	c.661 others(35): Show c.661-132314_661-132313insCACACACACACACA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303434	G G	GCGCACAC others(7): Show GCGCACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp1 HG02622.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0034 a0002c0010t0033 a0001c0001t0034 a0002c0010t0033	a0001c0001t0034g0018 a0002c0010t0033g0014 a0001c0001t0034g0018 a0002c0010t0033g0014	2	76	0.0263	14	c.661 others(35): Show c.661-132317_661-132316insGCACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70303434	G G	GCGCGCGC others(7): Show GCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	76	0.0132	14	c.661 others(35): Show c.661-132317_661-132316insGCGCGCACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70340163	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02165.hp2 HG02258.hp2 others(12): Show HG01175.hp2 HG02165.hp2 HG02258.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG04199.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0010 a0001c0001 a0002c0002 a0002c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0002c0002t0024 a0002c0002t0036 a0002c0010t0033	a0001c0001t0001g0074 a0001c0001t0003g0076 a0001c0001t0005g0020 others(12): Show a0001c0001t0001g0074 a0001c0001t0003g0076 a0001c0001t0005g0020 a0001c0001t0015g0001 a0001c0001t0016g0002 a0001c0001t0019g0075 a0001c0001t0022g0032 a0001c0001t0023g0072 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0002c0002t0024g0059 a0002c0002t0036g0017 a0002c0010t0033g0014	15	76	0.1974	14	c.661 others(33): Show c.661-95570_661-95557dupACACACACACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70377325	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp2 HG02615.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0008 a0001c0001t0014 a0001c0003t0008	a0001c0001t0014g0070 a0001c0003t0008g0069 a0001c0001t0014g0070 a0001c0003t0008g0069	2	76	0.0263	14	c.661 others(33): Show c.661-58391_661-58378dupTATATATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70444373	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0050 a0001c0001t0025g0050	1	76	0.0132	14	c.690 others(31): Show c.690+8593_690+8594insTGTGTGTGTGAGAG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01884.hp1 others(5): Show HG00099.hp2 HG00280.hp1 HG01884.hp1 HG01934.hp1 HG02647.hp2 HG03239.hp1 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0035	a0001c0001t0003g0035 a0001c0001t0003g0068 a0001c0001t0004g0042 others(5): Show a0001c0001t0003g0035 a0001c0001t0003g0068 a0001c0001t0004g0042 a0001c0001t0006g0038 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0035g0019	8	76	0.1053	14	c.691 others(35): Show c.691-119320_691-119307dupAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70721279	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01884.hp1 others(4): Show HG00280.hp1 HG00597.hp1 HG01884.hp1 HG01934.hp2 HG02630.hp2 HG03041.hp1 NA18612.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0003t0008 a0001c0005t0030 a0005c0011t0007	a0001c0001t0001g0033 a0001c0001t0001g0071 a0001c0001t0003g0068 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0006g0038 a0001c0003t0008g0069 a0001c0005t0030g0013 a0005c0011t0007g0004	7	76	0.0921	14	c.742 others(33): Show c.742+22680_742+22693dupGTGTGTGTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33871774	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19056.hp2 HG02572.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0201 a0001c0001t0002g0109 a0001c0001t0001g0201 a0001c0001t0002g0109	2	266	0.0075	14	c.517 others(29): Show c.517-758_517-745dupTTTTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	3/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0246 a0002c0002t0001g0246	1	266	0.0038	14	c.446 others(33): Show c.446-23479_446-23466dupAAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33904706	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	266	0.0038	14	c.446 others(33): Show c.446-28712_446-28711insGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33904708	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG00741.hp1 others(16): Show HG00099.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01433.hp2 HG02056.hp1 HG02109.hp2 HG02300.hp1 HG02602.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 NA18969.hp1 NA19060.hp1 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0003c0003 a0001c0001 a0001c0012 a0003c0003	a0001c0001t0001 a0001c0012t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0012t0001 a0003c0003t0001 a0003c0003t0003	a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0038 others(16): Show a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0112 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0012t0001g0164 a0003c0003t0001g0263 a0003c0003t0003g0007	19	266	0.0714	14	c.446 others(33): Show c.446-28714_446-28713insGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33904710	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02015.hp1 HG02132.hp1 others(14): Show HG00597.hp1 HG02015.hp1 HG02132.hp1 HG02280.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 NA18612.hp2 NA18980.hp1 NA18981.hp2 NA19007.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0096 a0001c0001t0001g0155 a0001c0001t0001g0186 others(14): Show a0001c0001t0001g0096 a0001c0001t0001g0155 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0002g0043 a0001c0001t0002g0090 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0192	17	266	0.0639	14	c.446 others(33): Show c.446-28716_446-28715insGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933491	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01346.hp1 HG01433.hp1 others(3): Show HG01169.hp1 HG01346.hp1 HG01433.hp1 HG02647.hp1 HG02723.hp2 NA18960.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0040 a0001c0001t0001g0162 a0001c0001t0004g0143 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0162 a0001c0001t0004g0143 a0001c0001t0004g0150 a0002c0002t0001g0092 a0003c0003t0003g0012	6	266	0.0226	14	c.446 others(33): Show c.446-57510_446-57497dupTGTGTGTGTGTGTG	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(7): Show CACACACACACAGAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	266	0.0038	14	c.446 others(33): Show c.446-57530_446-57529insCTCTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933524	C C	CACACACA others(7): Show CACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	266	0.0038	14	c.446 others(33): Show c.446-57530_446-57529insCTCTCTCTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33983140	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	266	0.0038	14	c.445 others(33): Show c.445+19891_445+19892insTACACACACACACA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33983164	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0022 a0009c0010t0001g0022	1	266	0.0038	14	c.445 others(33): Show c.445+19867_445+19868insTACACACACACACA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19083.hp1 NA19078.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0074 a0001c0001t0001g0075	2	372	0.0054	14	c.-20 others(29): Show c.-20+433_-20+446dupAAAAAAAAAAAAAA	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19			chr12	TogoVar
AVL9_chr7_32490489_32593726	32503319	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0085 a0001c0004t0085	a0001c0004t0085g0158 a0001c0004t0085g0158	1	330	0.0030	14	c.93+ others(29): Show c.93+7518_93+7531dupATATATATATATAT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32503365	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG04184.hp1 HG01433.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0097 a0001c0001t0028 a0001c0001t0097	a0001c0001t0028g0111 a0001c0001t0097g0271 a0001c0001t0028g0111 a0001c0001t0097g0271	2	330	0.0061	14	c.93+ others(29): Show c.93+7564_93+7565insCACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02258.hp1 NA19075.hp2 HG00099.hp2 HG02258.hp1 NA19075.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0043 a0001c0001t0103 a0003c0005t0023 a0001c0001t0043 a0001c0001t0103 a0003c0005t0023	a0001c0001t0043g0247 a0001c0001t0103g0246 a0003c0005t0023g0317 a0001c0001t0043g0247 a0001c0001t0103g0246 a0003c0005t0023g0317	3	330	0.0091	14	c.93+ others(29): Show c.93+7566_93+7567insCACACACACACACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32551605	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02895.hp1 HG03540.hp2 HG01106.hp2 HG02895.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0024 a0001c0008t0117 a0001c0008t0118 a0001c0001t0024 a0001c0008t0117 a0001c0008t0118	a0001c0001t0024g0284 a0001c0008t0117g0052 a0001c0008t0118g0053 a0001c0001t0024g0284 a0001c0008t0117g0052 a0001c0008t0118g0053	3	330	0.0091	14	c.462 others(29): Show c.462+188_462+201dupTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32572801	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp2 HG01192.hp2 others(15): Show HG00621.hp2 HG01074.hp2 HG01192.hp2 HG01433.hp2 HG02080.hp2 HG02145.hp2 HG02257.hp2 HG02738.hp2 HG03516.hp1 HG04115.hp1 HG04228.hp2 NA18984.hp2 NA19005.hp2 NA19057.hp1 NA19063.hp2 NA19077.hp1 NA19082.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0021 a0001c0004t0031 a0001c0004t0085 others(12): Show a0001c0004t0021 a0001c0004t0031 a0001c0004t0085 a0001c0004t0092 a0001c0004t0109 a0002c0003t0002 a0002c0003t0008 a0002c0003t0012 a0002c0003t0030 a0002c0003t0032 a0002c0003t0081 a0002c0003t0084 a0002c0003t0090 a0002c0003t0116 a0002c0003t0124	a0001c0004t0021g0157 a0001c0004t0031g0168 a0001c0004t0085g0158 others(15): Show a0001c0004t0021g0157 a0001c0004t0031g0168 a0001c0004t0085g0158 a0001c0004t0092g0119 a0001c0004t0109g0161 a0002c0003t0002g0126 a0002c0003t0002g0129 a0002c0003t0002g0141 a0002c0003t0002g0152 a0002c0003t0008g0170 a0002c0003t0012g0120 a0002c0003t0030g0165 a0002c0003t0032g0118 a0002c0003t0081g0164 a0002c0003t0084g0127 a0002c0003t0090g0122 a0002c0003t0116g0166 a0002c0003t0124g0037	18	330	0.0546	14	c.135 others(31): Show c.1351-395_1351-382dupAAAAAAAAAAAAAA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579583	A A	ATGTATAT others(7): Show ATGTATATAATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0128 a0002c0003t0008g0128	1	330	0.0030	14	c.168 others(31): Show c.1689-635_1689-634insGTATATAATATATT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03654.hp1 NA18522.hp1 others(2): Show HG02559.hp1 HG03654.hp1 NA18522.hp1 NA18963.hp2 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0191 a0002c0002t0001g0225 a0002c0002t0002g0078 others(2): Show a0001c0001t0001g0191 a0002c0002t0001g0225 a0002c0002t0002g0078 a0002c0002t0002g0098 a0002c0002t0002g0141	5	446	0.0112	14	c.287 others(29): Show c.287+725_287+738dupACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678940	T T	TGGCGGGG others(7): Show TGGCGGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0121 a0002c0002t0002g0121	1	446	0.0022	14	c.287 others(29): Show c.287+678_287+679insCCCCTCCCCCCGCC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63151507	C C	CCGGCGTC others(7): Show CCGGCGTCCACGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02970.hp2 others(1): Show HG02647.hp1 HG02895.hp1 HG02970.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0018 a0001c0002t0012g0018	4	448	0.0089	14	c.-67 others(23): Show c.-672_-671insATGCGTGGACGCCG	AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding		307		chr12	TogoVar
AXDND1_chr1_179360971_179559735	179488643	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01515.hp1 HG02109.hp1 others(3): Show HG01433.hp1 HG01515.hp1 HG02109.hp1 HG02132.hp2 HG02630.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0001 a0001c0015t0001 a0001c0003t0001 a0001c0015t0001	a0001c0003t0001g0210 a0001c0003t0001g0270 a0001c0003t0001g0276 others(3): Show a0001c0003t0001g0210 a0001c0003t0001g0270 a0001c0003t0001g0276 a0001c0015t0001g0274 a0001c0015t0001g0275 a0001c0015t0001g0284	6	356	0.0169	14	c.209 others(33): Show c.2092-2893_2092-2880dupTTCTTTCTTTCTTT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	320743	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0219 a0001c0003t0012g0219	1	378	0.0027	14	c.879 others(31): Show c.879-6061_879-6060insAATATATATATATA	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN1_chr16_282440_357723	323776	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0048 a0001c0017t0048	a0001c0017t0048g0225 a0001c0017t0048g0225	1	378	0.0027	14	c.879 others(31): Show c.879-9107_879-9094dupTGTGTGTGTGTGTG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN2_chr17_65523563_65566648	65538667	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02132.hp1 HG02486.hp2 others(1): Show HG01517.hp1 HG02132.hp1 HG02486.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0007 a0001c0002 a0001c0005 a0002c0007	a0001c0002t0001 a0001c0002t0007 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0002t0007 a0001c0005t0001 a0002c0007t0001	a0001c0002t0001g0092 a0001c0002t0007g0197 a0001c0005t0001g0188 others(1): Show a0001c0002t0001g0092 a0001c0002t0007g0197 a0001c0005t0001g0188 a0002c0007t0001g0165	4	402	0.0100	14	c.106 others(31): Show c.1060-338_1060-325dupTTTTTTTTTTTTTT	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10			chr17	TogoVar
AXL_chr19_41214223_41266766	41218778	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG02922.hp2 others(2): Show HG02258.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0034 a0001c0001t0008 a0001c0001t0034	a0001c0001t0008g0004 a0001c0001t0008g0007 a0001c0001t0034g0034 a0001c0001t0008g0004 a0001c0001t0008g0007 a0001c0001t0034g0034	5	314	0.0159	14	c.-61 others(23): Show c.-615_-614insGTGTGTGTGTGTGT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding		444		chr19	TogoVar
AXL_chr19_41214223_41266766	41218782	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG03516.hp1 HG02055.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0023 a0001c0002t0009 a0001c0002t0023	a0001c0002t0009g0282 a0001c0002t0023g0283 a0001c0002t0009g0282 a0001c0002t0023g0283	2	314	0.0064	14	c.-61 others(23): Show c.-611_-610insGTGTGTGTGTGTGT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding		440		chr19	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)