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.

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
RGS7_chr1_240770514_241362205	240793611	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	112	0.0089	25	c.6+ others(40): Show c.6+7029_*6+7030insAAATATATATATATATATATATATA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240793611	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	112	0.0089	25	c.6+ others(40): Show c.6+7029_*6+7030insAAAAAAAAAAATATATATATATATA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240793611	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	112	0.0089	25	c.6+ others(40): Show c.6+7029_*6+7030insAAAAAAAAAAAAATATATATATATA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	18/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	240842199	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	112	0.0089	25	c.610 others(44): Show c.610-15028_610-15027insAAAAAAAAAAAAAAAAAAAAAAAAA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	9/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241259667	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	112	0.0089	25	c.78+ others(42): Show c.78+96031_78+96032insATATATATATATATATTTTTTTTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHD_chr1_25267509_25335445	25276532	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0017 a0008c0008t0017	a0008c0008t0017g0203 a0008c0008t0017g0203	1	214	0.0047	25	c.148 others(42): Show c.148+3860_148+3861insAAAAAAAAAAAAAAAAAAAAAAAAA	RHD	ENSG00000187010.21	transcript	ENST00000328664.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHD_chr1_25267509_25335445	25321674	T T	TAAATAAA others(18): Show TAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp2 HG01981.hp2 others(9): Show HG01255.hp2 HG01358.hp2 HG01981.hp2 HG02040.hp2 HG02083.hp1 HG02622.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp1 NA18939.hp2 NA18968.hp2 NA18978.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0007c0009t0003	a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0092 others(9): Show a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0003g0078 a0001c0001t0004g0114 a0001c0001t0004g0125 a0001c0001t0012g0118 a0007c0009t0003g0093	12	214	0.0561	25	c.115 others(42): Show c.1154-204_1154-180dupAAATAAAATAAAATAAAATAAAATA	RHD	ENSG00000187010.21	transcript	ENST00000328664.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHEBL1_chr12_49059676_49074979	49072126	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 NA18947.hp2 HG00738.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0006 a0001c0001t0001g0030	2	374	0.0054	25	c.-23 others(36): Show c.-2342_-2341insATATATATATATATATATTTTTTTT	RHEBL1	ENSG00000167550.11	transcript	ENST00000301068.11	protein_coding		2148		chr12	TogoVar
RHNO1_chr12_2872223_2894524	2883511	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0285 a0001c0002t0001g0285	1	426	0.0024	25	c.-84 others(42): Show c.-84-1771_-84-1770insATATATATATATATATATATATTTT	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RHNO1_chr12_2872223_2894524	2883511	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	426	0.0024	25	c.-84 others(42): Show c.-84-1771_-84-1770insATATATATATATATATATATTTTTT	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RHOA_chr3_49354145_49416976	49399054	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19079.hp1 HG00642.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0229 a0001c0001t0001g0186 a0001c0001t0001g0229	2	264	0.0076	25	c.-3+ others(42): Show c.-3+12741_-3+12765dupTTTTTTTTTTTTTTTTTTTTTTTTT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOA_chr3_49354145_49416976	49404458	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	264	0.0038	25	c.-3+ others(40): Show c.-3+7361_-3+7362insGTGTGTGTGTGTGTGTGTGTGTGTG	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOB_chr2_20442074_20454440	20442568	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02735.hp1 HG02976.hp2 others(2): Show HG02698.hp1 HG02735.hp1 HG02976.hp2 NA18942.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	5	368	0.0136	25	c.-48 others(36): Show c.-4898_-4897insTTTTTTTTTTTTTTTTTTTTTTTTT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		4505		chr2	TogoVar
RHOG_chr11_3821978_3845959	3836902	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	468	0.0021	25	c.-69 others(42): Show c.-69+3967_-69+3991dupTTTTTTTTTTTTTTTTTTTTTTTTT	RHOG	ENSG00000177105.10	transcript	ENST00000351018.5	protein_coding	1/1			chr11	TogoVar
RHPN2_chr19_32973592_33069888	33031210	T T	TTTCTATT others(18): Show TTTCTATTCTATTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18961.hp2 HG03471.hp2 NA18961.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0005c0011 a0001c0005 a0005c0011	a0001c0005t0001 a0005c0011t0001 a0001c0005t0001 a0005c0011t0001	a0001c0005t0001g0227 a0005c0011t0001g0171 a0001c0005t0001g0227 a0005c0011t0001g0171	2	326	0.0061	25	c.186 others(42): Show c.186-4603_186-4579dupTAGAATAGAATAGAATAGAATAGAA	RHPN2	ENSG00000131941.8	transcript	ENST00000254260.8	protein_coding	2/14			chr19	TogoVar
RICTOR_chr5_38932920_39079399	38990684	C C	CATATCTG others(18): Show CATATCTGATATATATCATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0218 a0002c0002t0003g0218	1	338	0.0030	25	c.583 others(40): Show c.583+264_583+265insCATATATATGATATATATCAGATAT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
RIF1_chr2_151404902_151487172	151408164	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0074 a0001c0004t0006g0074	1	380	0.0026	25	c.-18 others(36): Show c.-1880_-1879insAATATATATATATATATATATATAT	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding		1737		chr2	TogoVar
RIF1_chr2_151404902_151487172	151442048	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18998.hp2 NA19081.hp2 others(1): Show HG00544.hp2 NA18998.hp2 NA19081.hp2 NA19091.hp1	a0001 a0025 a0001 a0025	a0001c0004 a0025c0030 a0001c0004 a0025c0030	a0001c0004t0006 a0025c0030t0006 a0001c0004t0006 a0025c0030t0006	a0001c0004t0006g0070 a0001c0004t0006g0074 a0001c0004t0006g0077 others(1): Show a0001c0004t0006g0070 a0001c0004t0006g0074 a0001c0004t0006g0077 a0025c0030t0006g0073	4	380	0.0105	25	c.173 others(40): Show c.1734+71_1734+95dupTATTTTATTTTATTTTATTTTATTT	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding	16/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
RIGI_chr9_32450302_32531196	32504068	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0009 a0002c0012t0009	a0002c0012t0009g0290 a0002c0012t0009g0290	1	344	0.0029	25	c.107 others(42): Show c.107-3130_107-3129insTGTGTGTGTGTGTGTGTGTGTGTGT	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RIGI_chr9_32450302_32531196	32508239	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01106.hp2 others(21): Show HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01496.hp2 HG01884.hp1 HG02071.hp2 HG02074.hp2 HG02258.hp1 HG02630.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03831.hp2 NA18954.hp1 NA18970.hp1 NA18984.hp2 NA18995.hp1 NA19007.hp2 NA19009.hp2 NA19079.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0002c0004 a0002c0007 a0006c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0026 a0001c0003t0002 a0001c0006t0006 a0001c0010t0002 a0002c0004t0002 a0002c0004t0005 a0002c0007t0001 a0006c0013t0001	a0001c0001t0001g0174 a0001c0001t0003g0204 a0001c0001t0004g0169 others(21): Show a0001c0001t0001g0174 a0001c0001t0003g0204 a0001c0001t0004g0169 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0002t0026g0217 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0144 a0001c0006t0006g0113 a0001c0010t0002g0142 a0002c0004t0002g0307 a0002c0004t0002g0310 a0002c0004t0002g0312 a0002c0004t0005g0291 a0002c0004t0005g0299 a0002c0004t0005g0306 a0002c0007t0001g0311 a0002c0007t0001g0317 a0002c0007t0001g0322 a0002c0007t0001g0325 a0002c0007t0001g0327 a0002c0007t0001g0328 a0006c0013t0001g0330	24	344	0.0698	25	c.107 others(42): Show c.107-7301_107-7300insAAAAAAAAAAAAAAAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RIMBP3B_chr22_21378751_21394478	21381775	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01168.hp1 HG01978.hp1 others(9): Show HG00741.hp2 HG01168.hp1 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02083.hp2 NA18747.hp1 NA18944.hp1 NA18979.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp2	a0002 a0004 a0008 others(5): Show a0002 a0004 a0008 a0052 a0053 a0059 a0062 a0063	a0002c0001 a0004c0004 a0008c0009 others(5): Show a0002c0001 a0004c0004 a0008c0009 a0052c0040 a0053c0039 a0059c0034 a0062c0030 a0063c0026	a0002c0001t0003 a0002c0001t0009 a0004c0004t0003 others(7): Show a0002c0001t0003 a0002c0001t0009 a0004c0004t0003 a0004c0004t0006 a0008c0009t0001 a0052c0040t0003 a0053c0039t0006 a0059c0034t0001 a0062c0030t0003 a0063c0026t0003	a0002c0001t0003g0000 a0002c0001t0009g0000 a0004c0004t0003g0000 others(7): Show a0002c0001t0003g0000 a0002c0001t0009g0000 a0004c0004t0003g0000 a0004c0004t0006g0000 a0008c0009t0001g0000 a0052c0040t0003g0000 a0053c0039t0006g0000 a0059c0034t0001g0000 a0062c0030t0003g0000 a0063c0026t0003g0000	12	118	0.1017	25	c.-20 others(36): Show c.-2084_-2083insAAAATAAAATAAAATAAAATAAAAT	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		1975		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21382968	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp2 NA18998.hp1 HG02071.hp1 HG02071.hp2 NA18998.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0004 a0002c0001 a0004c0004	a0002c0001t0003 a0004c0004t0003 a0002c0001t0003 a0004c0004t0003	a0002c0001t0003g0000 a0004c0004t0003g0000 a0002c0001t0003g0000 a0004c0004t0003g0000	3	118	0.0254	25	c.-89 others(34): Show c.-891_-890insGTGTGTGTGTGTGTGTGTGTGTGTG	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding		782		chr22	TogoVar
RIMBP3_chr22_18600815_18616919	18613372	A A	AGATGGGG others(18): Show AGATGGGGTTTCACCATGTTAACCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02280.hp2 HG02622.hp1 others(7): Show HG01243.hp1 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03225.hp2	a0003 a0004 a0005 others(3): Show a0003 a0004 a0005 a0007 a0016 a0017	a0003c0002 a0004c0005 a0005c0004 others(3): Show a0003c0002 a0004c0005 a0005c0004 a0007c0017 a0016c0016 a0017c0015	a0003c0002t0003 a0004c0005t0002 a0005c0004t0004 others(3): Show a0003c0002t0003 a0004c0005t0002 a0005c0004t0004 a0007c0017t0002 a0016c0016t0001 a0017c0015t0006	a0003c0002t0003g0000 a0004c0005t0002g0000 a0005c0004t0004g0000 others(3): Show a0003c0002t0003g0000 a0004c0005t0002g0000 a0005c0004t0004g0000 a0007c0017t0002g0000 a0016c0016t0001g0000 a0017c0015t0006g0000	10	30	0.3333	25	c.-19 others(36): Show c.-1939_-1938insCTGGTTAACATGGTGAAACCCCATC	RIMBP3	ENSG00000275793.1	transcript	ENST00000619918.1	protein_coding		1454		chr22	TogoVar
RIMOC1_chr5_41899344_41926636	41901253	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00735.hp1 others(4): Show HG00597.hp2 HG00642.hp1 HG00735.hp1 HG01255.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011	7	318	0.0220	25	c.-31 others(36): Show c.-3115_-3114insTTTTTTTTTTTTTTTTTTTTTTTTT	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding		3090		chr5	TogoVar
RIMS1_chr6_71881550_72408145	72196580	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp1 HG02451.hp1 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0016 a0001c0006 a0004c0016	a0001c0006t0002 a0004c0016t0002 a0001c0006t0002 a0004c0016t0002	a0001c0006t0002g0070 a0004c0016t0002g0068 a0001c0006t0002g0070 a0004c0016t0002g0068	2	140	0.0143	25	c.167 others(46): Show c.1678+13454_1678+13455insTTTTTTTTTTTTTTTTTTTTTTTT T	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	6/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS2_chr8_103495610_104259430	104248912	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	172	0.0058	25	c.436 others(41): Show c.4363+99_4363+100insCTCTCTCTCTCTCTCTCTCTCTCTC	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	27/29			chr8	TogoVar
RIMS3_chr1_40615680_40670682	40617239	A A	ATCCTTTT others(18): Show ATCCTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA18950.hp2 NA18960.hp1 HG00544.hp2 NA18950.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0083 a0001c0001t0003g0013 a0001c0001t0003g0126 a0001c0001t0001g0083 a0001c0001t0003g0013 a0001c0001t0003g0126	3	376	0.0080	25	c.92 others(36): Show c.9277_*9278insAAAAAAAAAAAAAAAAAAAAAAGGA	RIMS3	ENSG00000117016.10	transcript	ENST00000372684.8	protein_coding		3440		chr1	TogoVar
RIN3_chr14_92508781_92693994	92561040	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 homoSapiens_chm13v2.hp1 HG04115.hp1 homoSapiens_chm13v2.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0016 a0002c0002 a0012c0016	a0002c0002t0001 a0012c0016t0002 a0002c0002t0001 a0012c0016t0002	a0002c0002t0001g0011 a0012c0016t0002g0167 a0002c0002t0001g0011 a0012c0016t0002g0167	2	334	0.0060	25	c.249 others(42): Show c.249+5085_249+5086insTATATATATATATATATATATATAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9			chr14	TogoVar
RIN3_chr14_92508781_92693994	92561042	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02293.hp2 HG03239.hp1 others(2): Show HG01943.hp2 HG02293.hp2 HG03239.hp1 NA18988.hp2 NA19002.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0029	a0001c0001 a0003c0003 a0007c0007 others(1): Show a0001c0001 a0003c0003 a0007c0007 a0029c0028	a0001c0001t0001 a0003c0003t0001 a0007c0007t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0007c0007t0001 a0029c0028t0001	a0001c0001t0001g0229 a0003c0003t0001g0266 a0007c0007t0001g0132 others(2): Show a0001c0001t0001g0229 a0003c0003t0001g0266 a0007c0007t0001g0132 a0007c0007t0001g0238 a0029c0028t0001g0239	5	334	0.0150	25	c.249 others(42): Show c.249+5087_249+5088insTATATATATATATATATATATATAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9			chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0265 a0006c0005t0001g0265	1	334	0.0030	25	c.249 others(42): Show c.249+5090_249+5091insAAATATATATATATATATATATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	334	0.0030	25	c.249 others(42): Show c.249+5090_249+5091insATATATATATATATATATATATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19066.hp2 NA18973.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0141 a0001c0001t0001g0104 a0001c0001t0001g0141	2	334	0.0060	25	c.249 others(42): Show c.249+5089_249+5090insTATATATATATATATATATATATAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9			chr14	TogoVar
RINT1_chr7_105527201_105572677	105570240	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	368	0.0027	25	c.29 others(36): Show c.2929_*2930insAATATATATATATATATATATATAT	RINT1	ENSG00000135249.8	transcript	ENST00000257700.7	protein_coding		2564		chr7	TogoVar
RIOK3_chr18_23448287_23488140	23451472	C C	CAAAAGAA others(18): Show CAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG01243.hp2 others(35): Show HG00621.hp2 HG01070.hp1 HG01243.hp2 HG02055.hp2 HG02074.hp2 HG02129.hp2 HG02451.hp2 HG02486.hp1 HG02809.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03540.hp2 HG03927.hp1 HG04184.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18966.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18981.hp2 NA18992.hp2 NA18993.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19070.hp1 NA19080.hp2 NA19089.hp2 NA19090.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0020	a0001c0001t0001g0010 a0001c0001t0001g0108 a0001c0001t0001g0113 others(34): Show a0001c0001t0001g0010 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0002g0291 a0001c0001t0002g0333 a0001c0001t0004g0161 a0001c0001t0004g0192 a0001c0001t0005g0092 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0009g0089 a0001c0001t0015g0121 a0001c0001t0020g0157	38	402	0.0945	25	c.-19 others(36): Show c.-1968_-1967insAAAAGAAAAGAAAAGAAAAGAAAAG	RIOK3	ENSG00000101782.15	transcript	ENST00000339486.8	protein_coding		1814		chr18	TogoVar
RIOX2_chr3_97936818_97977431	97972611	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	370	0.0027	25	c.-27 others(34): Show c.-271_-270insAAAAAAAAAAAAAAAAAAAAAAAAA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding		181		chr3	TogoVar
RIPK3_chr14_24331025_24344991	24343833	C C	CTTTTTCT others(18): Show CTTTTTCTTAGTGTGTGTGCTGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	25	c.-40 others(36): Show c.-4008_-4007insTCAGCAGCACACACACTAAGAAAAA	RIPK3	ENSG00000129465.16	transcript	ENST00000216274.10	protein_coding		3843		chr14	TogoVar
RIT2_chr18_42738227_43120685	42837153	C C	CTTTTCTT others(18): Show CTTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	240	0.0042	25	c.426 others(44): Show c.426+86418_426+86419insAAAAAAAAAAAAAAAAAAAAGAAAA	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4			chr18	TogoVar
RLBP1_chr15_89204869_89226579	89205128	T T	TTTCTCTC others(18): Show TTTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	414	0.0024	25	c.51 others(36): Show c.5156_*5157insGAGAGAGAGAGAGAGAGAGAGAGAA	RLBP1	ENSG00000140522.12	transcript	ENST00000268125.10	protein_coding		4740		chr15	TogoVar
RLF_chr1_40156387_40245921	40224623	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	338	0.0030	25	c.947 others(42): Show c.947+1920_947+1944dupTTTTTTTTTTTTTTTTTTTTTTTTT	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RMDN3_chr15_40730887_40760254	40741620	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	404	0.0025	25	c.911 others(42): Show c.911-1452_911-1428dupAAAAAAAAAAAAAAAAAAAAAAAAA	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	6/12			chr15	TogoVar
RMND5A_chr2_86715291_86783041	86716899	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0240 a0001c0001t0005g0240	1	304	0.0033	25	c.-37 others(36): Show c.-3769_-3768insAAAAAAAAAAAAAAAAAAAAAAAAA	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding		3391		chr2	TogoVar
RMND5A_chr2_86715291_86783041	86737592	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0249 a0001c0004t0008g0249	1	304	0.0033	25	c.143 others(42): Show c.143-3333_143-3332insATATATATATATATATATATATAAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNASEH1_chr2_3536430_3563333	3552523	C C	CCCCCTCC others(18): Show CCCCCTCCACACCACCTCCACCCCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03471.hp1 HG03471.hp2 HG02622.hp1 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0033 a0001c0001t0022 a0001c0001t0033	a0001c0001t0022g0031 a0001c0001t0033g0173 a0001c0001t0022g0031 a0001c0001t0033g0173	3	408	0.0074	25	c.245 others(40): Show c.245-240_245-216dupAGGGGGTGGAGGTGGTGTGGAGGGG	RNASEH1	ENSG00000171865.10	transcript	ENST00000315212.4	protein_coding	2/7			chr2	TogoVar
RNASEH2A_chr19_12801584_12818640	12805131	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG04204.hp1 HG03239.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	412	0.0049	25	c.-15 others(36): Show c.-1543_-1542insAAAAAAAAAAAAAAAAAAAAAAAAA	RNASEH2A	ENSG00000104889.7	transcript	ENST00000221486.6	protein_coding		1452		chr19	TogoVar
RNASEL_chr1_182568634_182594256	182591935	G G	GTATTGTA others(18): Show GTATTGTAGGCAACAAATCTACAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	434	0.0023	25	c.-29 others(36): Show c.-2934_-2933insTTCTGTAGATTTGTTGCCTACAATA	RNASEL	ENSG00000135828.11	transcript	ENST00000367559.7	protein_coding		2680		chr1	TogoVar
RND1_chr12_48852145_48870870	48870176	G G	GAGGCTGA others(18): Show GAGGCTGAGGTGGGAGGATCACTTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp2 NA18976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	400	0.0025	25	c.-44 others(36): Show c.-4410_-4409insTCAAGTGATCCTCCCACCTCAGCCT	RND1	ENSG00000172602.11	transcript	ENST00000309739.6	protein_coding		4307		chr12	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	420	0.0024	25	c.-38 others(38): Show c.-38-20_-38-19insATATATATATATATATATTTTTTTT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	420	0.0024	25	c.-38 others(38): Show c.-38-20_-38-19insATATATATATATATATATATTTTTT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	420	0.0024	25	c.-38 others(38): Show c.-38-20_-38-19insATATATATATATATATATATATTTT	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar
RND3_chr2_150463195_150492667	150487474	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	420	0.0024	25	c.-38 others(38): Show c.-38-20_-38-19insATATATATATATATATATATATATA	RND3	ENSG00000115963.14	transcript	ENST00000263895.9	protein_coding	1/5			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)