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
RHOB_chr2_20442074_20454440	20442568	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG03130.hp2 HG01952.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	2	368	0.0054	36	c.-48 others(47): Show c.-4898_-4897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		4505		chr2	TogoVar
RHOB_chr2_20442074_20454440	20446087	A A	AATAGTGT others(29): Show AATAGTGTATATTCTATTGTACATTCTATTGTACAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02698.hp1 HG03486.hp2 others(10): Show HG02145.hp2 HG02698.hp1 HG03486.hp2 NA18949.hp1 NA18966.hp2 NA18978.hp1 NA18980.hp1 NA18985.hp1 NA18990.hp1 NA18991.hp1 NA19030.hp1 NA19074.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0009g0000 others(1): Show a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0009g0000 a0001c0001t0012g0000	13	368	0.0353	36	c.-13 others(47): Show c.-1379_-1378insATAGTGTATATTCTATTGTACATTCTATTGTACA AT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		986		chr2	TogoVar
RHOC_chr1_112696131_112712127	112706478	A A	ACACACAC others(29): Show ACACACACACCACACACACACACACACACCCCCACAC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	428	0.0023	36	c.-77 others(51): Show c.-77+599_-77+600insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTG TGTGTG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOQ_chr2_46537490_46589688	46546451	C C	CATATATA others(29): Show CATATATATATATATATATATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	332	0.0030	36	c.201 others(53): Show c.201+2663_201+2664insATATATATATATATATATATATATATAT ATATATGT	RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
RHO_chr3_129523639_129540344	129538495	T T	TTCCCTCC others(29): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	1	404	0.0025	36	c.47 others(47): Show c.4777_*4778insTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CC	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		3152		chr3	TogoVar
RHO_chr3_129523639_129540344	129538525	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	404	0.0025	36	c.48 others(47): Show c.4807_*4808insCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TT	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		3182		chr3	TogoVar
RHO_chr3_129523639_129540344	129538525	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01123.hp1 HG01361.hp1 others(5): Show HG00140.hp1 HG01123.hp1 HG01361.hp1 HG01515.hp2 HG02145.hp2 HG02258.hp1 HG03041.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0021 a0001c0001t0006g0030 others(2): Show a0001c0001t0006g0004 a0001c0001t0006g0021 a0001c0001t0006g0030 a0001c0001t0006g0061 a0001c0001t0006g0072	8	404	0.0198	36	c.48 others(47): Show c.4807_*4808insCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCC TT	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		3182		chr3	TogoVar
RHO_chr3_129523639_129540344	129538525	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01243.hp1 NA18997.hp2 others(6): Show HG00735.hp1 HG01243.hp1 NA18997.hp2 NA19000.hp2 NA19005.hp2 NA19058.hp1 NA19091.hp1 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020	a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0012 others(4): Show a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0005g0074 a0001c0001t0005g0076 a0001c0001t0020g0080	9	404	0.0223	36	c.48 others(47): Show c.4807_*4808insCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCC TT	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		3182		chr3	TogoVar
RHO_chr3_129523639_129540344	129538525	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02523.hp1 NA18962.hp1 others(5): Show HG02080.hp1 HG02523.hp1 NA18962.hp1 NA18971.hp1 NA18990.hp2 NA19011.hp1 NA19079.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0014 others(3): Show a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0053	8	404	0.0198	36	c.48 others(47): Show c.4807_*4808insCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCC TT	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		3182		chr3	TogoVar
RHO_chr3_129523639_129540344	129538525	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0028 a0002c0002t0009g0028	1	404	0.0025	36	c.48 others(47): Show c.4807_*4808insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		3182		chr3	TogoVar
RIC1_chr9_5624107_5781557	5673535	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03486.hp2 HG01099.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0165 a0001c0001t0029g0060 a0001c0001t0001g0165 a0001c0001t0029g0060	2	328	0.0061	36	c.253 others(55): Show c.253-16401_253-16400insTATATATATATATATATATATATATA TATATATATA	RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RIC8B_chr12_106769682_106894316	106785785	G G	GTCTCTCT others(29): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0307 a0001c0002t0009g0307	1	318	0.0031	36	c.132 others(53): Show c.132+1770_132+1771insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	RIC8B	ENSG00000111785.21	transcript	ENST00000392837.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
RICTOR_chr5_38932920_39079399	39075284	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	338	0.0030	36	c.-90 others(45): Show c.-908_-907insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		886		chr5	TogoVar
RIMBP2_chr12_130391133_130721299	130646058	A A	ACCACCTC others(29): Show ACCACCTCCCTCACCACTTCCCTCACCACCTGCCTCT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	180	0.0056	36	c.-35 others(57): Show c.-351-17603_-351-17602insAGAGGCAGGTGGTGAGGGAAGTGG TGAGGGAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646142	A A	ACCACTTC others(29): Show ACCACTTCCCTCACCACTTCCCTCACCACCTGCCTCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0081 a0001c0006t0001g0081	1	180	0.0056	36	c.-35 others(57): Show c.-351-17687_-351-17686insAGAGGCAGGTGGTGAGGGAAGTGG TGAGGGAAGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646209	C C	CCCTCACC others(29): Show CCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0081 a0001c0006t0001g0081	1	180	0.0056	36	c.-35 others(57): Show c.-351-17754_-351-17753insCAGGTGGTGAGGGAGGTGGAGAGG GAGGTGGTGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646287	C C	CCACCTCC others(29): Show CCACCTCCCTCACCACCTCCCTCACCACCTGCCTCAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0050 a0001c0008t0001g0050	1	180	0.0056	36	c.-35 others(57): Show c.-351-17832_-351-17831insATGAGGCAGGTGGTGAGGGAGGTG GTGAGGGAGGTG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646346	A A	ACCACCTG others(29): Show ACCACCTGCCTCGCCACCTGCCTCGCCACCTCCCTCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0057 a0001c0027t0001g0057	1	180	0.0056	36	c.-35 others(57): Show c.-351-17891_-351-17890insCGAGGGAGGTGGCGAGGCAGGTGG CGAGGCAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646346	A A	ACCACCTG others(29): Show ACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0026 a0001c0032t0001g0026	1	180	0.0056	36	c.-35 others(57): Show c.-351-17891_-351-17890insAGAGGGAAGTGGTGAGGGAGGTGG AGAGGCAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646425	C C	CCCTCTCC others(29): Show CCCTCTCCACCTCCCTCATCACCTCCCTCACCACCTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0101 a0001c0022t0001g0101	1	180	0.0056	36	c.-35 others(57): Show c.-351-17970_-351-17969insCAGGTGGTGAGGGAGGTGATGAGG GAGGTGGAGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646443	C C	CCACTTCC others(29): Show CCACTTCCCTCTCCACCTCCCTCACCACCTGCCTCAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0115 a0001c0004t0002g0115	1	180	0.0056	36	c.-35 others(57): Show c.-351-17988_-351-17987insATGAGGCAGGTGGTGAGGGAGGTG GAGAGGGAAGTG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646454	G G	GCCACCTC others(29): Show GCCACCTCCCTCACTACCTGCCTCTCCACCTCCCTCA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0176 a0001c0008t0001g0176	1	180	0.0056	36	c.-35 others(57): Show c.-351-17999_-351-17998insTGAGGGAGGTGGAGAGGCAGGTAG TGAGGGAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713215	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0039 a0004c0039	a0004c0039t0001 a0004c0039t0001	a0004c0039t0001g0132 a0004c0039t0001g0132	1	180	0.0056	36	c.-35 others(55): Show c.-352+3006_-352+3007insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713219	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01243.hp2 others(7): Show HG00741.hp1 HG00741.hp2 HG01243.hp2 HG01256.hp1 HG01433.hp2 HG01496.hp1 HG02071.hp2 HG03834.hp2 NA18980.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0028	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0028t0001	a0001c0001t0001g0005 a0001c0001t0001g0113 a0001c0001t0005g0006 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0113 a0001c0001t0005g0006 a0001c0002t0001g0168 a0001c0002t0002g0007 a0001c0003t0001g0116 a0001c0004t0001g0004 a0001c0004t0001g0112 a0001c0004t0002g0115 a0001c0028t0001g0114	10	180	0.0556	36	c.-35 others(55): Show c.-352+3002_-352+3003insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713223	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02622.hp1 HG04228.hp1 others(3): Show HG01515.hp2 HG02622.hp1 HG04228.hp1 NA18906.hp2 NA18950.hp2 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0011 a0001c0043 a0002c0014	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0011t0001 a0001c0043t0001 a0002c0014t0002	a0001c0001t0001g0106 a0001c0002t0001g0107 a0001c0007t0001g0164 others(3): Show a0001c0001t0001g0106 a0001c0002t0001g0107 a0001c0007t0001g0164 a0001c0011t0001g0109 a0001c0043t0001g0108 a0002c0014t0002g0105	6	180	0.0333	36	c.-35 others(55): Show c.-352+2998_-352+2999insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP3C_chr22_21540666_21556461	21542037	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 NA18975.hp2 HG02896.hp2 NA18975.hp2	a0003 a0040 a0003 a0040	a0003c0003 a0040c0097 a0003c0003 a0040c0097	a0003c0003t0001 a0040c0097t0001 a0003c0003t0001 a0040c0097t0001	a0003c0003t0001g0000 a0040c0097t0001g0000 a0003c0003t0001g0000 a0040c0097t0001g0000	2	200	0.0100	36	c.40 others(47): Show c.4019_*4020insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AA	RIMBP3C	ENSG00000183246.8	transcript	ENST00000433039.2	protein_coding		3628		chr22	TogoVar
RIMKLA_chr1_42375792_42429232	42384481	G G	GTGTGTGT others(29): Show GTGTGTGTATATATATATACATGTATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03490.hp1 others(3): Show HG02896.hp2 HG02897.hp1 HG03490.hp1 HG03491.hp1 HG03834.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0036 a0001c0001t0089 others(1): Show a0001c0001t0008 a0001c0001t0036 a0001c0001t0089 a0001c0002t0005	a0001c0001t0008g0083 a0001c0001t0036g0018 a0001c0001t0089g0157 others(2): Show a0001c0001t0008g0083 a0001c0001t0036g0018 a0001c0001t0089g0157 a0001c0002t0005g0319 a0001c0002t0005g0320	6	356	0.0169	36	c.163 others(53): Show c.163+3399_163+3434dupTATACATGTATATATGTATATATGTGTG TATATATA	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMKLA_chr1_42375792_42429232	42385891	T T	TTTCCTTC others(29): Show TTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0100 a0001c0001t0009g0100	1	356	0.0028	36	c.163 others(53): Show c.163+4797_163+4798insCTTCTTTCCTTCTTTCCTTCTTTCCTTC TTTCCTTC	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMKLA_chr1_42375792_42429232	42385891	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0104 a0001c0001t0009g0104	1	356	0.0028	36	c.163 others(53): Show c.163+4801_163+4802insTTTCTTTCTTTCCTTCTTTCCTTCTTTC CTTCTTTC	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMS1_chr6_71881550_72408145	72092291	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01496.hp1 others(7): Show HG00099.hp1 HG00140.hp1 HG01496.hp1 HG02486.hp1 HG02683.hp1 HG03490.hp2 HG03492.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0013 others(1): Show a0001c0001 a0001c0003 a0001c0013 a0003c0017	a0001c0001t0003 a0001c0003t0004 a0001c0013t0003 others(1): Show a0001c0001t0003 a0001c0003t0004 a0001c0013t0003 a0003c0017t0004	a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0008 others(7): Show a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0003t0004g0007 a0001c0003t0004g0112 a0001c0003t0004g0113 a0001c0003t0004g0114 a0001c0003t0004g0115 a0001c0013t0003g0097 a0003c0017t0004g0066	10	140	0.0714	36	c.246 others(53): Show c.246-4655_246-4654insCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS1_chr6_71881550_72408145	72093210	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	140	0.0071	36	c.246 others(53): Show c.246-3721_246-3720insTATATATATATATATATATATATATATA TATATATA	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS2_chr8_103495610_104259430	103600259	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0127 a0001c0007t0001g0127	1	172	0.0058	36	c.177 others(55): Show c.177-51923_177-51922insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIMS2_chr8_103495610_104259430	103813389	C C	CTTCTTTC others(29): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02135.hp1 HG02622.hp1 others(2): Show HG01884.hp2 HG02135.hp1 HG02622.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0021 a0001c0001 a0001c0003 a0002c0021	a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0003t0001 a0002c0021t0002	a0001c0001t0004g0154 a0001c0001t0006g0170 a0001c0001t0014g0157 others(2): Show a0001c0001t0004g0154 a0001c0001t0006g0170 a0001c0001t0014g0157 a0001c0003t0001g0168 a0002c0021t0002g0163	5	172	0.0291	36	c.830 others(55): Show c.830+46878_830+46879insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIN3_chr14_92508781_92693994	92561042	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02886.hp2 HG03942.hp2 HG01257.hp2 HG02886.hp2 HG03942.hp2	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0005c0006 a0006c0005 a0002c0002 a0005c0006 a0006c0005	a0002c0002t0001 a0005c0006t0001 a0006c0005t0001 a0002c0002t0001 a0005c0006t0001 a0006c0005t0001	a0002c0002t0001g0008 a0005c0006t0001g0033 a0006c0005t0001g0310 a0002c0002t0001g0008 a0005c0006t0001g0033 a0006c0005t0001g0310	3	334	0.0090	36	c.249 others(53): Show c.249+5088_249+5089insTATATATATATATATATATATATATATA TATATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02647.hp2 HG01517.hp2 HG02647.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0001 a0001c0001t0001 a0006c0005t0001	a0001c0001t0001g0328 a0006c0005t0001g0015 a0001c0001t0001g0328 a0006c0005t0001g0015	2	334	0.0060	36	c.249 others(53): Show c.249+5090_249+5091insAAAATATATATATATATATATATATATA TATATATA	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIOX2_chr3_97936818_97977431	97946586	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0179 a0003c0003t0001g0179	1	370	0.0027	36	c.115 others(53): Show c.1150-700_1150-699insTATATATATATATATATATATATATATA TATATATA	RIOX2	ENSG00000170854.18	transcript	ENST00000394198.7	protein_coding	8/9			chr3	TogoVar
RIPK1_chr6_3063494_3120187	3076699	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	340	0.0029	36	c.-60 others(49): Show c.-60-38_-60-37insTATATATATATATATATATATATATATATATA TATA	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(29): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	448	0.0022	36	c.48 others(47): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(29): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	448	0.0022	36	c.47 others(47): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPOR2_chr6_24799284_24940960	24927054	C C	CCAGCACC others(29): Show CCAGCACCACTACAACTACAATCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp2 HG01169.hp1 others(7): Show HG01069.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG02683.hp2 HG02976.hp2 HG03139.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0009	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0005c0007 a0006c0010 a0009c0012	a0001c0001t0007 a0001c0003t0002 a0001c0004t0006 others(6): Show a0001c0001t0007 a0001c0003t0002 a0001c0004t0006 a0002c0002t0003 a0005c0007t0005 a0006c0010t0010 a0006c0010t0027 a0006c0010t0028 a0009c0012t0022	a0001c0001t0007g0318 a0001c0003t0002g0059 a0001c0004t0006g0315 others(7): Show a0001c0001t0007g0318 a0001c0003t0002g0059 a0001c0004t0006g0315 a0002c0002t0003g0060 a0005c0007t0005g0317 a0006c0010t0010g0013 a0006c0010t0010g0014 a0006c0010t0027g0012 a0006c0010t0028g0011 a0009c0012t0022g0316	10	328	0.0305	36	c.61+ others(51): Show c.61+8783_61+8784insATGGTGATGGTGGTGATTGTAGTTGTAGTG GTGCTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24927176	C C	CCACCACC others(29): Show CCACCACCACCACTACAACTACAGTTACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp1 HG03130.hp2 others(1): Show HG02280.hp2 HG02970.hp1 HG03130.hp2 NA18946.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0007 a0001c0004t0006 a0001c0004t0009 others(1): Show a0001c0001t0007 a0001c0004t0006 a0001c0004t0009 a0002c0002t0003	a0001c0001t0007g0093 a0001c0004t0006g0094 a0001c0004t0009g0095 others(1): Show a0001c0001t0007g0093 a0001c0004t0006g0094 a0001c0004t0009g0095 a0002c0002t0003g0195	4	328	0.0122	36	c.61+ others(51): Show c.61+8661_61+8662insATGGTGGTGGTAACTGTAGTTGTAGTGGTG GTGGTG	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPOR3_chr20_50581108_50696542	50609980	A A	ACCACCCC others(29): Show ACCACCCCTGCCTCCCCTGCCACCCCTGCCTCACCTG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02132.hp1 HG02071.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0016 a0001c0001t0001g0022	2	280	0.0071	36	c.427 others(51): Show c.427-259_427-258insCAGGTGAGGCAGGGGTGGCAGGGGAGGCAG GGGTGG	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	6/21			chr20	TogoVar
RIT2_chr18_42738227_43120685	42940236	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	240	0.0042	36	c.235 others(55): Show c.235-16474_235-16473insTATATATATATATATATATATATATA TATATATATA	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	3/4			chr18	TogoVar
RIT2_chr18_42738227_43120685	43100939	G G	GTGTATGT others(29): Show GTGTATGTGTGTGTATATACACACACATGCACAGACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	240	0.0042	36	c.103 others(55): Show c.103+14442_103+14477dupTGTCTGTGCATGTGTGTGTATATACA CACACATACA	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	1/4			chr18	TogoVar
RMDN2_chr2_37920287_38022744	38003578	A A	AGATAGAT others(29): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0003 a0009c0008t0003	a0009c0008t0003g0118 a0009c0008t0003g0118	1	328	0.0031	36	c.104 others(53): Show c.1045-388_1045-387insATAGATAGATGGATAGATAGATAGATAG ATAGATAG	RMDN2	ENSG00000115841.21	transcript	ENST00000354545.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
RMDN3_chr15_40730887_40760254	40741620	A A	ATTTTTTT others(29): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	404	0.0025	36	c.911 others(53): Show c.911-1428_911-1427insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	6/12			chr15	TogoVar
RMND5A_chr2_86715291_86783041	86737574	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0097 a0001c0001t0016g0097	1	304	0.0033	36	c.143 others(53): Show c.143-3333_143-3332insATATATATATATATATATATATATATAT ATATATAT	RMND5A	ENSG00000153561.13	transcript	ENST00000283632.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(29): Show AAAGAAAGAAAAGAAAGAAAGAAAGAGAAGAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	36	c.-36 others(47): Show c.-3657_-3656insAAGAAAGAAAAGAAAGAAAGAAAGAGAAGAAGAA GG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	36	c.-36 others(47): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	36	c.-36 others(47): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAA GG	RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding		3601		chr14	TogoVar

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Search Results (Total: 8848 hits)