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
UNC13B_chr9_35157009_35410335	35157648	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0192 a0002c0003t0001g0192	1	224	0.0045	25	c.-46 others(36): Show c.-4636_-4635insTTTTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		4360		chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0017 a0002c0010t0001g0017	1	224	0.0045	25	c.152 others(40): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35257370	T T	TAAAAATA others(18): Show TAAAAATATTTATATAAATATTTATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0179 a0002c0011t0001g0179	1	224	0.0045	25	c.469 others(42): Show c.469-1619_469-1618insATATTTATATAAATATTTATAAAAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATAAAAAT others(18): Show ATAAAAATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp2 HG02615.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0035 a0001c0001 a0001c0035	a0001c0001t0001 a0001c0035t0001 a0001c0001t0001 a0001c0035t0001	a0001c0001t0001g0003 a0001c0035t0001g0001 a0001c0001t0001g0003 a0001c0035t0001g0001	2	158	0.0127	25	c.298 others(46): Show c.2983+22239_2983+22240insAAAAATTTTTTTTTTTTTTTTTTT T	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATATAAAA others(18): Show ATATAAAAATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0004 a0001c0001t0025g0004	1	158	0.0063	25	c.298 others(46): Show c.2983+22239_2983+22240insATAAAAATTTTTTTTTTTTTTTTT T	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54138953	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18964.hp1 HG02630.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0020 a0001c0020t0001 a0001c0002t0020 a0001c0020t0001	a0001c0002t0020g0020 a0001c0020t0001g0043 a0001c0002t0020g0020 a0001c0020t0001g0043	2	158	0.0127	25	c.298 others(44): Show c.2984-4064_2984-4040dupTTTTTTTTTTTTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54172701	C C	CACACAGA others(18): Show CACACAGATTATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0106	1	158	0.0063	25	c.307 others(46): Show c.3071+29018_3071+29019insCACAGATTATATATATATATATAA A	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54370898	T T	TGACATGA others(18): Show TGACATGAAATCACATGTTAGTGTAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03225.hp1 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0059 a0001c0002t0002 a0001c0001t0059 a0001c0002t0002	a0001c0001t0059g0147 a0001c0002t0002g0063 a0001c0001t0059g0147 a0001c0002t0002g0063	2	158	0.0127	25	c.471 others(46): Show c.4714-22149_4714-22125dupGACATGAAATCACATGTTAGTGTA C	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	17/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54516799	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0070 a0001c0001t0015g0070	1	158	0.0063	25	c.545 others(44): Show c.5457+4982_5457+4983insAAAAAAAAAAAAAAAAAAAAAAAAA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02257.hp2 HG02965.hp1 others(2): Show HG01981.hp1 HG02257.hp2 HG02965.hp1 HG03017.hp1 NA18906.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0025 a0001c0001 a0016c0025	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0016c0025t0015	a0001c0001t0002g0263 a0001c0001t0005g0213 a0001c0001t0005g0280 others(2): Show a0001c0001t0002g0263 a0001c0001t0005g0213 a0001c0001t0005g0280 a0001c0001t0018g0256 a0016c0025t0015g0349	5	434	0.0115	25	c.115 others(44): Show c.1151+1921_1151+1945dupAAAAAAAAAAAAAAAAAAAAAAAAA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC45B_chr17_35142817_35194343	35166086	T T	TGAAAAAA others(18): Show TGAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0214	1	434	0.0023	25	c.115 others(44): Show c.1151+1920_1151+1921insGAAAAAAAAAAAAAAAAAAAAAAAA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	9/19			chr17	TogoVar
UNC5C_chr4_95157504_95553973	95267949	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0084 a0001c0014t0004g0084	1	204	0.0049	25	c.594 others(44): Show c.594+10309_594+10310insAAAAAAAAAAAAAAAAAAAAAAAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95275025	C C	CAAACAAA others(18): Show CAAACAAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02280.hp2 HG02896.hp1 others(8): Show HG01346.hp1 HG02280.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03486.hp2 HG03688.hp2 NA18942.hp1 NA18957.hp2 NA18962.hp2 NA18964.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0005 others(4): Show a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0002c0002 a0002c0008 a0003c0013	a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 others(6): Show a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0010t0004 a0002c0002t0001 a0002c0002t0002 a0002c0008t0002 a0003c0013t0009	a0001c0003t0013g0078 a0001c0004t0001g0148 a0001c0004t0003g0014 others(8): Show a0001c0003t0013g0078 a0001c0004t0001g0148 a0001c0004t0003g0014 a0001c0005t0001g0077 a0001c0010t0004g0192 a0001c0010t0004g0193 a0002c0002t0001g0069 a0002c0002t0002g0008 a0002c0002t0002g0017 a0002c0008t0002g0052 a0003c0013t0009g0098	11	204	0.0539	25	c.594 others(42): Show c.594+3209_594+3233dupTGTTTTGTTTTGTTTTGTTTTGTTT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03710.hp2 HG02896.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0018 a0002c0007t0002 a0001c0004t0018 a0002c0007t0002	a0001c0004t0018g0159 a0002c0007t0002g0096 a0001c0004t0018g0159 a0002c0007t0002g0096	2	204	0.0098	25	c.125 others(44): Show c.125-18849_125-18848insAAATATATATATATATATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(18): Show CACACACACACACACACACACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 NA18983.hp1 HG03927.hp2 NA18983.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0003c0007t0002 a0001c0001t0002 a0003c0007t0002	a0001c0001t0002g0044 a0003c0007t0002g0007 a0001c0001t0002g0044 a0003c0007t0002g0007	2	64	0.0313	25	c.-52 others(36): Show c.-5273_-5272insACACACACACACACACACACAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35230513	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0030 a0002c0005t0017g0030	1	64	0.0156	25	c.-52 others(36): Show c.-5272_-5271insCACACACACACACACACACACACAC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4961		chr8	TogoVar
UNC79_chr14_93425939_93712876	93695890	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18968.hp2 HG02293.hp2 NA18968.hp2	a0002 a0002	a0002c0003 a0002c0008 a0002c0003 a0002c0008	a0002c0003t0001 a0002c0008t0001 a0002c0003t0001 a0002c0008t0001	a0002c0003t0001g0114 a0002c0008t0001g0139 a0002c0003t0001g0114 a0002c0008t0001g0139	2	193	0.0104	25	c.788 others(44): Show c.7881+1498_7881+1499insAAAAAAAAAAAAAAAAAAAAAAAAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	50/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC93B1_chr11_67986100_68009097	67987215	G G	GTAAAATA others(18): Show GTAAAATAAAATAAAATAAAATAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG01192.hp2 others(13): Show HG00438.hp1 HG00544.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp2 HG01934.hp1 HG02040.hp2 HG03704.hp2 NA18942.hp1 NA18959.hp2 NA18962.hp1 NA18989.hp1 NA18993.hp1 NA19003.hp2 NA19011.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0106	16	370	0.0432	25	c.43 others(36): Show c.4330_*4331insTTTTATTTTATTTTATTTTATTTTA	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3884		chr11	TogoVar
UNC93B1_chr11_67986100_68009097	67987276	T T	TAAAATAA others(18): Show TAAAATAAAATAAAATAAAATAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG01123.hp2 others(18): Show HG00099.hp1 HG00423.hp1 HG01123.hp2 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02818.hp1 HG02922.hp1 HG04199.hp2 HG04204.hp1 NA18906.hp1 NA18952.hp2 NA18970.hp1 NA19002.hp1 NA19054.hp2 NA19085.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0015	a0001c0001t0005 a0001c0002t0002 a0001c0003t0003 others(2): Show a0001c0001t0005 a0001c0002t0002 a0001c0003t0003 a0001c0006t0005 a0001c0015t0005	a0001c0001t0005g0103 a0001c0002t0002g0003 a0001c0002t0002g0005 others(10): Show a0001c0001t0005g0103 a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0013 a0001c0002t0002g0049 a0001c0002t0002g0053 a0001c0002t0002g0060 a0001c0002t0002g0175 a0001c0002t0002g0179 a0001c0003t0003g0033 a0001c0003t0003g0072 a0001c0006t0005g0111 a0001c0015t0005g0105	21	370	0.0568	25	c.42 others(36): Show c.4269_*4270insTTTTTATTTTATTTTATTTTATTTT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3823		chr11	TogoVar
UNC93B1_chr11_67986100_68009097	67987276	T T	TAAAATAA others(18): Show TAAAATAAAATAAAATAAAATAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	370	0.0027	25	c.42 others(36): Show c.4269_*4270insGTTTTATTTTATTTTATTTTATTTT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3823		chr11	TogoVar
UPF2_chr10_11915022_12047809	11938842	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0304 a0001c0002t0001g0304	1	334	0.0030	25	c.337 others(44): Show c.3379-2131_3379-2130insAAAAAAAAAAAAAAAAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF3B_chrX_119829022_119857963	119851748	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	282	0.0036	25	c.263 others(38): Show c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAA	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	2/10			chrX	TogoVar
UPK1A_chr19_35661517_35683481	35661784	G G	GTTTTTGG others(18): Show GTTTTTGGAGATGGAGTCTCTCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0004 a0003c0005t0002g0004	1	420	0.0024	25	c.-47 others(36): Show c.-4759_-4758insTTTTTGGAGATGGAGTCTCTCTGTC	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		4732		chr19	TogoVar
UPK3BL1_chr7_102632025_102647791	102643253	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0108 a0001c0001t0008g0108	1	140	0.0071	25	c.-51 others(34): Show c.-513_-512insCTTTTTTTTTTTTTTTTTTTTTTTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		463		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GAGAAAAG others(18): Show GAGAAAAGAAAGAAAGGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0005 a0002c0002t0012g0005	1	182	0.0055	25	c.-41 others(36): Show c.-4197_-4196insTCTTTCTTTCCTTTCTTTCTTTTCT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UQCC1_chr20_35297578_35416973	35338888	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	256	0.0039	25	c.573 others(42): Show c.573+8275_573+8276insATATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338890	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18969.hp1 HG02055.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0179 a0001c0001t0001g0157 a0001c0001t0001g0179	2	256	0.0078	25	c.573 others(42): Show c.573+8273_573+8274insATATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	256	0.0039	25	c.573 others(42): Show c.573+8271_573+8272insATATATATATATATATATATTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	256	0.0039	25	c.573 others(42): Show c.573+8271_573+8272insATATATATATATATATATATATTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18951.hp1 HG01261.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0177 a0001c0001t0001g0162 a0001c0001t0001g0177	2	256	0.0078	25	c.573 others(42): Show c.573+8271_573+8272insATATATATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410704	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02602.hp2 HG03041.hp1 others(7): Show HG02055.hp1 HG02602.hp2 HG03041.hp1 HG03130.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG04115.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 others(7): Show a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0002c0002t0001g0087	10	256	0.0391	25	c.24+ others(40): Show c.24+1235_24+1236insTTTTTTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC6_chr12_103945194_103962215	103958007	T T	TTATATAT others(18): Show TTATATATTTTTAATATATATTTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	462	0.0022	25	c.-95 others(34): Show c.-950_-949insTATAAATATATATTAAAAATATATA	UQCC6	ENSG00000204954.10	transcript	ENST00000378090.9	protein_coding		793		chr12	TogoVar
UQCRH_chr1_46298698_46321776	46315376	A A	AGAGGTTG others(18): Show AGAGGTTGCGGTGAGCCGAGATTGCG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	434	0.0023	25	c.244 others(42): Show c.244-1160_244-1159insGAGATTGCGGAGGTTGCGGTGAGCC	UQCRH	ENSG00000173660.12	transcript	ENST00000311672.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAAAAGAA others(18): Show AAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	338	0.0030	25	c.164 others(40): Show c.1640-37_1640-36insCTTTCTTTCTTTCTTTCTTTCTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02897.hp2 NA18969.hp1 HG02109.hp1 HG02897.hp2 NA18969.hp1	a0001 a0013 a0021 a0001 a0013 a0021	a0001c0002 a0013c0023 a0021c0047 a0001c0002 a0013c0023 a0021c0047	a0001c0002t0021 a0013c0023t0003 a0021c0047t0017 a0001c0002t0021 a0013c0023t0003 a0021c0047t0017	a0001c0002t0021g0187 a0013c0023t0003g0245 a0021c0047t0017g0091 a0001c0002t0021g0187 a0013c0023t0003g0245 a0021c0047t0017g0091	3	338	0.0089	25	c.164 others(40): Show c.1640-37_1640-36insCTTTCTTTCTTTCTTTCTTTCTTTC	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
URI1_chr19_29937239_30021612	29964485	A A	ACGGAGTT others(18): Show ACGGAGTTTTGCTCTCGTTGCCCAGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	328	0.0031	25	c.118 others(42): Show c.118-6706_118-6682dupGGAGTTTTGCTCTCGTTGCCCAGGC	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
USF3_chr3_113643385_113701642	113683347	A A	AAACTATT others(18): Show AAACTATTATCTAGTTTTTAATCTAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0202 a0001c0001t0066g0202	1	342	0.0029	25	c.-13 others(44): Show c.-134-5951_-134-5950insATAGATTAAAAACTAGATAATAGTT	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	1/6			chr3	TogoVar
USH2A_chr1_215617891_216428448	216050607	T T	TCTTTCTT others(18): Show TCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0024 a0024	a0024c0063 a0024c0063	a0024c0063t0001 a0024c0063t0001	a0024c0063t0001g0056 a0024c0063t0001g0056	1	74	0.0135	25	c.605 others(44): Show c.6050-1961_6050-1960insGAAAGAAAGAAAGAAAGAAAGAAAG	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	30/71			chr1	TogoVar
USP10_chr16_84695000_84784922	84702993	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0006 a0001c0007t0015g0006	1	430	0.0023	25	c.21+ others(40): Show c.21+2902_21+2903insAAAAAAAAAAAAAAAAAAAAAAAAA	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP10_chr16_84695000_84784922	84720576	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19003.hp2 NA19054.hp1 others(2): Show HG02698.hp1 NA19003.hp2 NA19054.hp1 NA19085.hp1 NA19087.hp1	a0002 a0002	a0002c0004 a0002c0016 a0002c0004 a0002c0016	a0002c0004t0001 a0002c0016t0001 a0002c0004t0001 a0002c0016t0001	a0002c0004t0001g0058 a0002c0004t0001g0076 a0002c0004t0001g0077 others(2): Show a0002c0004t0001g0058 a0002c0004t0001g0076 a0002c0004t0001g0077 a0002c0004t0001g0088 a0002c0016t0001g0307	5	430	0.0116	25	c.22- others(42): Show c.22-12836_22-12835insTTTTTTTTTTTTTTTTTTTTTTTTT	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP13_chr3_179648040_179794401	179687659	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18943.hp1 NA20752.hp1 HG03239.hp2 NA18943.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0012 a0001c0001t0002g0060 a0001c0001t0012g0070 a0001c0001t0002g0012 a0001c0001t0002g0060 a0001c0001t0012g0070	3	300	0.0100	25	c.295 others(42): Show c.295-2580_295-2556dupAAAAAAAAAAAAAAAAAAAAAAAAA	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP14_chr18_153557_219629	171025	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	380	0.0026	25	c.195 others(42): Show c.195+4207_195+4208insATATATATATATATATATATATATA	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
USP15_chr12_62255404_62421389	62257164	G G	GTGTGTGT others(18): Show GTGTGTGTATATGTATATATACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00735.hp2 others(40): Show HG00544.hp1 HG00609.hp1 HG00735.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02896.hp2 HG02976.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 NA18522.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp2 NA19043.hp2 NA19064.hp2 NA19081.hp1 NA19086.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(17): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0020 a0001c0001t0029 a0001c0001t0036 a0001c0001t0039 a0001c0002t0001 a0001c0002t0006 a0001c0002t0023 a0001c0002t0055 a0001c0003t0002 a0001c0003t0026 a0001c0003t0044 a0001c0003t0046 a0001c0003t0047 a0001c0008t0064	a0001c0001t0003g0250 a0001c0001t0004g0119 a0001c0001t0004g0126 others(39): Show a0001c0001t0003g0250 a0001c0001t0004g0119 a0001c0001t0004g0126 a0001c0001t0004g0131 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0009g0220 a0001c0001t0009g0221 a0001c0001t0009g0244 a0001c0001t0009g0281 a0001c0001t0010g0096 a0001c0001t0013g0207 a0001c0001t0013g0208 a0001c0001t0018g0108 a0001c0001t0018g0239 a0001c0001t0020g0142 a0001c0001t0029g0016 a0001c0001t0036g0251 a0001c0001t0039g0140 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0006g0314 a0001c0002t0006g0315 a0001c0002t0006g0316 a0001c0002t0006g0317 a0001c0002t0006g0318 a0001c0002t0006g0319 a0001c0002t0006g0320 a0001c0002t0006g0321 a0001c0002t0006g0322 a0001c0002t0023g0020 a0001c0002t0055g0324 a0001c0003t0002g0146 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0202 a0001c0003t0002g0293 a0001c0003t0026g0284 a0001c0003t0044g0166 a0001c0003t0046g0283 a0001c0003t0047g0164 a0001c0008t0064g0214	43	348	0.1236	25	c.-32 others(36): Show c.-3251_-3250insTGTGTGTATATGTATATATACACAA	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding		3239		chr12	TogoVar
USP20_chr9_129830458_129886828	129846247	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04184.hp1 HG03239.hp2 HG04184.hp1	a0001 a0008 a0001 a0008	a0001c0016 a0008c0019 a0001c0016 a0008c0019	a0001c0016t0002 a0008c0019t0002 a0001c0016t0002 a0008c0019t0002	a0001c0016t0002g0256 a0008c0019t0002g0255 a0001c0016t0002g0256 a0008c0019t0002g0255	2	352	0.0057	25	c.-12 others(44): Show c.-128-3565_-128-3564insATATATATATATATATATATTTTTT	USP20	ENSG00000136878.14	transcript	ENST00000372429.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
USP20_chr9_129830458_129886828	129846247	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0258 a0001c0016t0002g0258	1	352	0.0028	25	c.-12 others(44): Show c.-128-3565_-128-3564insATATATATATATATATATTTTTTTT	USP20	ENSG00000136878.14	transcript	ENST00000372429.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
USP22_chr17_20994596_21048011	21027292	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA20752.hp2 NA18949.hp1 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0022 a0001c0003t0004g0173 a0001c0003t0004g0022 a0001c0003t0004g0173	2	356	0.0056	25	c.304 others(42): Show c.304+1249_304+1250insTTTTTTTTTTTTTTTTTTTTTTTTT	USP22	ENSG00000124422.12	transcript	ENST00000261497.9	protein_coding	2/12			chr17	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp1 HG00621.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0065 a0001c0002t0002g0055 a0001c0002t0002g0065	2	252	0.0079	25	c.-77 others(44): Show c.-77+25840_-77+25841insATATATATATATATATATATATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP28_chr11_113792875_113880572	113826337	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	364	0.0028	25	c.118 others(42): Show c.1187+871_1187+895dupAAAAAAAAAAAAAAAAAAAAAAAAA	USP28	ENSG00000048028.12	transcript	ENST00000696973.1	protein_coding	11/25			chr11	TogoVar
USP32_chr17_60172327_60397133	60368991	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	152	0.0066	25	c.58+ others(42): Show c.58+22890_58+22891insAAAAAAAAAAAAAAAAAAAAAAAAA	USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	1/33			chr17	TogoVar
USP33_chr1_77690987_77764852	77702141	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0289	1	318	0.0031	25	c.240 others(42): Show c.2407-695_2407-671dupTTTTTTTTTTTTTTTTTTTTTTTTT	USP33	ENSG00000077254.14	transcript	ENST00000370794.7	protein_coding	21/23			chr1	TogoVar

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Search Results (Total: 8644 hits)