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
ABTB3_chr12_107313434_107664642	107366419	AAAGGAAA others(19): Show AAAGGAAAAAACCTAACACCAGGAAAC	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0129 a0003c0006t0002g0129	1	186	0.0054	-26	c.113 others(47): Show c.1135+46347_1135+46372delGGAAAAAACCTAACACCAGGAAAC AA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469980	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp2 HG01081.hp1 HG02109.hp2	a0001 a0012 a0001 a0012	a0001c0012 a0012c0025 a0001c0012 a0012c0025	a0001c0012t0027 a0012c0025t0002 a0001c0012t0027 a0012c0025t0002	a0001c0012t0027g0023 a0012c0025t0002g0079 a0001c0012t0027g0023 a0012c0025t0002g0079	2	186	0.0108	-26	c.113 others(47): Show c.1136-50505_1136-50480delTTCTTTCTTTCTTTCTTTCTTTCT TT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37119589	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19076.hp2 NA19011.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0204 a0001c0001t0016g0235 a0001c0001t0016g0204 a0001c0001t0016g0235	2	299	0.0067	-26	c.627 others(45): Show c.6274+1740_6274+1765delGTGTGTGTGTGTGTGTGTGTGTGTGT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	50/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260274	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	299	0.0033	-26	c.133 others(43): Show c.1330-770_1330-745delAAAATATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37260276	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	299	0.0033	-26	c.133 others(43): Show c.1330-772_1330-747delAAAAAATATATATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	11/55			chr17	TogoVar
ACADM_chr1_75719709_75768679	75737279	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	364	0.0028	-26	c.468 others(43): Show c.468+2431_468+2456delATATATATATATATATATATATATAT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACER1_chr19_6301142_6338612	6337639	CTTTTCTT others(19): Show CTTTTCTTTTCTTTCTTTCTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02717.hp2 HG02818.hp1 others(5): Show HG02145.hp2 HG02717.hp2 HG02818.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 others(5): Show a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0004g0150	8	396	0.0202	-26	c.-41 others(37): Show c.-4114_-4089delAAAAGAAAGAAAGAAAGAAAAGAAAA	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding		4028		chr19	TogoVar
ACER3_chr11_76855918_77031797	76950352	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02895.hp1 HG02897.hp1 HG01167.hp2 HG02895.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0046 a0002c0004t0006 a0002c0002t0046 a0002c0004t0006	a0002c0002t0046g0330 a0002c0002t0046g0331 a0002c0004t0006g0305 a0002c0002t0046g0330 a0002c0002t0046g0331 a0002c0004t0006g0305	3	346	0.0087	-26	c.215 others(43): Show c.215-8593_215-8568delTATATATATATATATATATATATATA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACOT11_chr1_54543228_54615329	54562764	AGATGGGG others(19): Show AGATGGGGCGGCGGGGCAGAGGCGCTC	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	388	0.0026	-26	c.33+ others(43): Show c.33+14423_33+14448delGATGGGGCGGCGGGGCAGAGGCGCTC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15			chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599171	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0321 a0001c0006t0008g0321	1	388	0.0026	-26	c.765 others(40): Show c.765-123_765-98delAAAAAAAAAATATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599177	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0005 a0001c0006t0008g0005	1	388	0.0026	-26	c.765 others(40): Show c.765-117_765-92delAAAATATATATATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOX1_chr17_75936507_75984166	75956910	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	344	0.0029	-26	c.538 others(41): Show c.538+523_538+548delAGAGAGAGAGAGAGAGAGAGAGAGAG	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956947	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18981.hp2 HG02280.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0012 a0001c0001t0002 a0001c0003t0012	a0001c0001t0002g0055 a0001c0003t0012g0011 a0001c0001t0002g0055 a0001c0003t0012g0011	2	344	0.0058	-26	c.538 others(41): Show c.538+486_538+511delTAGAGAGAGAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956949	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19058.hp2 HG02572.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0046 a0001c0001t0002 a0001c0003t0046	a0001c0001t0002g0072 a0001c0003t0046g0012 a0001c0001t0002g0072 a0001c0003t0046g0012	2	344	0.0058	-26	c.538 others(41): Show c.538+484_538+509delTATAGAGAGAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956951	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03831.hp2 NA18949.hp2 others(4): Show HG03098.hp2 HG03831.hp2 NA18949.hp2 NA18985.hp1 NA19004.hp2 NA19057.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0026 others(3): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0026 a0001c0001t0031 a0001c0001t0060 a0001c0001t0061	a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0018g0084 others(4): Show a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0018g0084 a0001c0001t0026g0106 a0001c0001t0031g0019 a0001c0001t0060g0076 a0001c0001t0061g0069	7	344	0.0204	-26	c.538 others(41): Show c.538+482_538+507delTATATAGAGAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956953	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp2 HG03471.hp1 others(3): Show HG01891.hp2 HG02622.hp2 HG03471.hp1 HG03540.hp2 NA19086.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0002g0057 a0001c0001t0002g0314 a0001c0001t0003g0155 others(3): Show a0001c0001t0002g0057 a0001c0001t0002g0314 a0001c0001t0003g0155 a0001c0001t0011g0018 a0001c0001t0011g0020 a0001c0001t0011g0128	6	344	0.0174	-26	c.538 others(41): Show c.538+480_538+505delTATATATAGAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956955	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 NA18612.hp1 HG00609.hp1 HG00639.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0044 a0001c0001t0002 a0001c0003t0044	a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0003t0044g0137 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0003t0044g0137	3	344	0.0087	-26	c.538 others(41): Show c.538+478_538+503delTATATATATAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956957	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02738.hp1 NA18959.hp2 HG02735.hp2 HG02738.hp1 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0059 a0002c0002t0001 a0001c0001t0059 a0002c0002t0001	a0001c0001t0059g0073 a0002c0002t0001g0145 a0002c0002t0001g0301 a0001c0001t0059g0073 a0002c0002t0001g0145 a0002c0002t0001g0301	3	344	0.0087	-26	c.538 others(41): Show c.538+476_538+501delTATATATATATAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956959	CTCTCTCT others(19): Show CTCTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01169.hp1 HG01106.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0299 a0002c0002t0001g0265 a0002c0002t0001g0299	2	344	0.0058	-26	c.538 others(41): Show c.538+474_538+499delTATATATATATATAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956961	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02273.hp2 NA18983.hp2 others(1): Show HG01169.hp2 HG02273.hp2 NA18983.hp2 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0070 a0002c0002t0001 a0002c0002t0070	a0002c0002t0001g0171 a0002c0002t0001g0210 a0002c0002t0001g0220 others(1): Show a0002c0002t0001g0171 a0002c0002t0001g0210 a0002c0002t0001g0220 a0002c0002t0070g0174	4	344	0.0116	-26	c.538 others(41): Show c.538+472_538+497delTATATATATATATATAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956963	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02132.hp1 HG02523.hp1 others(1): Show HG01928.hp1 HG02132.hp1 HG02523.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0065 a0002c0002t0001 a0002c0002t0065	a0002c0002t0001g0164 a0002c0002t0001g0273 a0002c0002t0001g0278 others(1): Show a0002c0002t0001g0164 a0002c0002t0001g0273 a0002c0002t0001g0278 a0002c0002t0065g0184	4	344	0.0116	-26	c.538 others(41): Show c.538+470_538+495delTATATATATATATATATAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956965	CTCTCTCT others(19): Show CTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03491.hp2 NA18993.hp2 HG01981.hp1 HG03491.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0075 a0002c0002t0001 a0002c0002t0075	a0002c0002t0001g0268 a0002c0002t0001g0272 a0002c0002t0075g0280 a0002c0002t0001g0268 a0002c0002t0001g0272 a0002c0002t0075g0280	3	344	0.0087	-26	c.538 others(41): Show c.538+468_538+493delTATATATATATATATATATAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956967	CTCTCTAT others(19): Show CTCTCTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp2 HG02155.hp1 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0257 a0002c0002t0001g0172 a0002c0002t0001g0257	2	344	0.0058	-26	c.538 others(41): Show c.538+466_538+491delTATATATATATATATATATATAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX2_chr3_58500136_58542190	58510689	TATATATA others(19): Show TATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18948.hp2 NA18974.hp1 HG02602.hp1 NA18948.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0163 a0001c0001t0001g0208 a0001c0001t0001g0144 a0001c0001t0001g0163 a0001c0001t0001g0208	3	364	0.0082	-26	c.185 others(45): Show c.1851-1690_1851-1665delGTGTGTATATATATATATATATATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510691	TATATATA others(19): Show TATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG00735.hp1 others(24): Show HG00609.hp2 HG00639.hp2 HG00735.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG02056.hp1 HG02135.hp1 HG02257.hp1 HG02523.hp2 HG03017.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 NA18990.hp2 NA18993.hp1 NA19001.hp1 NA19010.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0025 others(19): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0264	27	364	0.0742	-26	c.185 others(45): Show c.1851-1692_1851-1667delGTGTGTGTATATATATATATATATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510693	TATATATA others(19): Show TATATATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	364	0.0028	-26	c.185 others(45): Show c.1851-1694_1851-1669delGTGTGTGTGTATATATATATATATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACR_chr22_50733204_50750339	50748460	CGAGGGGT others(19): Show CGAGGGGTGTGCCCACCTAGACAATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02809.hp1 others(4): Show HG01891.hp2 HG02451.hp1 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG03209.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0141	7	464	0.0151	-26	c.32 others(37): Show c.3254_*3279delGAGGGGTGTGCCCACCTAGACAATCT	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3122		chr22	TogoVar
ACR_chr22_50733204_50750339	50748573	CCACCTAG others(19): Show CCACCTAGACAATCTGAGGGGTGTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02630.hp1 others(6): Show HG02055.hp2 HG02109.hp2 HG02630.hp1 HG02922.hp2 HG02976.hp1 HG03486.hp2 HG03579.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0014 a0001c0001t0001g0067 a0001c0001t0001g0068	9	464	0.0194	-26	c.33 others(37): Show c.3367_*3392delCACCTAGACAATCTGAGGGGTGTGCT	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3235		chr22	TogoVar
ACR_chr22_50733204_50750339	50748584	ATCTGAGG others(19): Show ATCTGAGGGGTGTGCTCACCTAGACAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02965.hp1 others(1): Show HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	4	464	0.0086	-26	c.33 others(37): Show c.3378_*3403delTCTGAGGGGTGTGCTCACCTAGACAT	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3246		chr22	TogoVar
ACR_chr22_50733204_50750339	50748687	CGAGGGGT others(19): Show CGAGGGGTGTGCCCACCTAGACTATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02897.hp1 others(5): Show HG02055.hp1 HG02622.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0016 a0002c0002 a0002c0016	a0002c0002t0001 a0002c0016t0001 a0002c0002t0001 a0002c0016t0001	a0002c0002t0001g0016 a0002c0002t0001g0072 a0002c0002t0001g0108 others(1): Show a0002c0002t0001g0016 a0002c0002t0001g0072 a0002c0002t0001g0108 a0002c0016t0001g0073	8	464	0.0172	-26	c.34 others(37): Show c.3481_*3506delGAGGGGTGTGCCCACCTAGACTATCT	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3349		chr22	TogoVar
ACR_chr22_50733204_50750339	50748713	TGAGGGGT others(19): Show TGAGGGGTGTGCCCACCTAGACATCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02809.hp2 HG03139.hp2 others(3): Show HG02486.hp2 HG02809.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0085 a0001c0001t0001g0087 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0085 a0001c0001t0001g0087 a0002c0002t0001g0053 a0002c0002t0001g0086	6	464	0.0129	-26	c.35 others(37): Show c.3507_*3532delGAGGGGTGTGCCCACCTAGACATCCC	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3375		chr22	TogoVar
ACSF3_chr16_89088852_89161233	89105805	TGAGGGCA others(19): Show TGAGGGCAGGTTGGTTCCATCGTCCCG	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0007 a0008c0022t0007	a0008c0022t0007g0063 a0008c0022t0007g0063	1	368	0.0027	-26	c.822 others(43): Show c.822+3067_822+3092delGTCCCGGAGGGCAGGTTGGTTCCATC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSM1_chr16_20618235_20702680	20627869	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01361.hp1 HG02602.hp2 others(2): Show HG00558.hp2 HG01361.hp1 HG02602.hp2 HG03579.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0012 a0001c0002 a0008c0012	a0001c0002t0001 a0008c0012t0001 a0001c0002t0001 a0008c0012t0001	a0001c0002t0001g0054 a0001c0002t0001g0178 a0001c0002t0001g0255 others(2): Show a0001c0002t0001g0054 a0001c0002t0001g0178 a0001c0002t0001g0255 a0001c0002t0001g0273 a0008c0012t0001g0272	5	318	0.0157	-26	c.130 others(43): Show c.1300-579_1300-554delATATATATATATATATATATATATAT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20635594	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03486.hp1 HG03209.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0155 a0001c0001t0002g0102 a0001c0001t0002g0155	2	318	0.0063	-26	c.129 others(45): Show c.1299+1119_1299+1144delGAAAGAAAGAAAGAAAGAAAGAAAGA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSS3_chr12_81073079_81266210	81107503	AATATATA others(19): Show AATATATACATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18906.hp2 NA18944.hp2 HG03669.hp2 NA18906.hp2 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0008 a0001c0001t0001 a0002c0004t0008	a0001c0001t0001g0136 a0001c0001t0001g0239 a0002c0004t0008g0044 a0001c0001t0001g0136 a0001c0001t0001g0239 a0002c0004t0008g0044	3	290	0.0103	-26	c.312 others(43): Show c.312-2049_312-2024delCATATATATATATATATATATATATA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA1_chr1_229426245_229439094	229435458	GTCCCTCT others(19): Show GTCCCTCTCTCTCTCTCTCTCTCTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02976.hp2 others(4): Show HG02559.hp2 HG02630.hp2 HG02976.hp2 HG03041.hp1 HG03486.hp1 HG03486.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0010 a0001c0005t0001g0022 a0001c0002t0001g0010 a0001c0005t0001g0022	7	450	0.0156	-26	c.-14 others(37): Show c.-1493_-1468delGAGAGAGAGAGAGAGAGAGAGAGGGA	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		1365		chr1	TogoVar
ACTA1_chr1_229426245_229439094	229435461	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	450	0.0022	-26	c.-14 others(37): Show c.-1496_-1471delAGAGAGAGAGAGAGAGAGAGAGAGAG	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		1368		chr1	TogoVar
ACTA1_chr1_229426245_229439094	229435487	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG01261.hp1 others(13): Show HG01123.hp1 HG01167.hp1 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02300.hp2 HG02735.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	16	450	0.0356	-26	c.-15 others(37): Show c.-1522_-1497delGGAGAGAGAGAGAGAGAGAGAGAGAG	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		1394		chr1	TogoVar
ACTC1_chr15_34785230_34800549	34797460	GGAAGATA others(19): Show GGAAGATACAAAGCAAATTGTATGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	496	0.0020	-26	c.-20 others(37): Show c.-2003_-1978delACACATACAATTTGCTTTGTATCTTC	ACTC1	ENSG00000159251.9	transcript	ENST00000290378.6	protein_coding		1912		chr15	TogoVar
ACTN3_chr11_66541903_66568334	66552870	TCTCTCTC others(19): Show TCTCTCTCTCTCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0187 a0003c0007t0001g0187	1	400	0.0025	-26	c.383 others(43): Show c.383-1173_383-1148delTCTCTCTCTCACACACACACACACAC	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACTN4_chr19_38642649_38736589	38736015	GGGGGTCT others(19): Show GGGGGTCTCGGGGGTCTCGGGGGTCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0231 a0001c0004t0005g0231	1	314	0.0032	-26	c.65 others(37): Show c.6584_*6609delGGGGTCTCGGGGGTCTCGGGGGTCTC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4427		chr19	TogoVar
ACTR1B_chr2_97650939_97669044	97665719	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG03669.hp1 HG01168.hp1 HG01169.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	3	398	0.0075	-26	c.-18 others(37): Show c.-1855_-1830delTATATATAGAGAGAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1676		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665721	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	398	0.0025	-26	c.-18 others(37): Show c.-1857_-1832delTATATATATAGAGAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1678		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665723	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	398	0.0025	-26	c.-18 others(37): Show c.-1859_-1834delTATATATATATAGAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1680		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665725	CTCTCTCT others(19): Show CTCTCTCTCTCTCTATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	398	0.0025	-26	c.-18 others(37): Show c.-1861_-1836delTATATATATATATAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1682		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665727	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01358.hp2 HG03710.hp1 HG00280.hp1 HG01358.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0002 a0001c0002t0005g0006 a0001c0002t0002g0002 a0001c0002t0005g0006	3	398	0.0075	-26	c.-18 others(37): Show c.-1863_-1838delTATATATATATATATAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1684		chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152778943	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG02083.hp1 others(3): Show HG01099.hp2 HG01106.hp2 HG02083.hp1 HG02257.hp1 HG03834.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0004t0001g0303	6	310	0.0194	-26	c.45- others(41): Show c.45-4227_45-4202delAAAAAAAAAAAAAAAAAAAAAAAAAA	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTR3B_chr7_152754752_152860378	152829040	GTGTGTAT others(19): Show GTGTGTATATATATATATACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02145.hp1 HG02615.hp1 others(10): Show HG01952.hp1 HG02145.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG03098.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03927.hp1 HG04199.hp1 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0298 others(10): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0005t0001g0301	13	310	0.0419	-26	c.951 others(43): Show c.951+3919_951+3944delTGTGTATATATATATATACACACACA	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	9/11			chr7	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18951.hp2 NA18955.hp2 others(1): Show HG00597.hp1 NA18951.hp2 NA18955.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0071 others(1): Show a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0071 a0001c0001t0002g0125	4	324	0.0124	-26	c.139 others(43): Show c.1393-206_1393-181delAAAAAAAAAAAAAAAAAAAAAAAAAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR2B_chr3_38448890_38498142	38492731	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01109.hp2 others(12): Show HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01255.hp2 HG02055.hp2 HG02486.hp2 HG03490.hp2 HG03704.hp2 HG06807.hp1 NA18522.hp1 NA18944.hp1 NA18945.hp2 NA19007.hp2 NA19065.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0033 a0001c0001t0047 others(6): Show a0001c0001t0032 a0001c0001t0033 a0001c0001t0047 a0001c0001t0048 a0001c0001t0159 a0001c0001t0161 a0001c0001t0165 a0001c0001t0178 a0001c0001t0182	a0001c0001t0032g0002 a0001c0001t0032g0126 a0001c0001t0033g0002 others(8): Show a0001c0001t0032g0002 a0001c0001t0032g0126 a0001c0001t0033g0002 a0001c0001t0047g0024 a0001c0001t0048g0054 a0001c0001t0048g0055 a0001c0001t0159g0007 a0001c0001t0161g0035 a0001c0001t0165g0138 a0001c0001t0178g0002 a0001c0001t0182g0127	15	410	0.0366	-26	c.94 others(37): Show c.9447_*9472delCACACACACACACACACACACACACA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9447	INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 6759 hits)