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
RRAGC_chr1_38833198_38864772	38833389	A A	AGCCTGCC others(27): Show AGCCTGCCTGCCTTTCTCAATTGTCCCGTTCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	418	0.0024	34	c.61 others(45): Show c.6163_*6164insATGGGAACGGGACAATTGAGAAAGGCAGGCAGGC	RRAGC	ENSG00000116954.8	transcript	ENST00000373001.4	protein_coding		4808		chr1	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18964.hp1 NA19076.hp1 HG02132.hp1 NA18964.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0033g0030 a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0033g0030	3	372	0.0081	34	c.445 others(51): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT ATATAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RRAS2_chr11_14272922_14364183	14293124	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	279	0.0036	34	c.408 others(51): Show c.408+1313_408+1346dupATATATATATATATATATATATATATAT ATATAT	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	4/5			chr11	TogoVar
RRM1_chr11_4089799_4143932	4130066	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA20300.hp1 NA18992.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0305 a0001c0003t0002g0303 a0001c0001t0001g0305 a0001c0003t0002g0303	2	368	0.0054	34	c.176 others(51): Show c.1769+937_1769+938insATATATATATATATATATATATATATAT ATATAT	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RRP7A_chr22_42503344_42524796	42509848	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02293.hp2 others(3): Show HG01516.hp1 HG01517.hp1 HG02293.hp2 NA18612.hp1 NA18959.hp2 NA19087.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0016 a0003c0004t0044 a0003c0004t0129 a0002c0001t0016 a0003c0004t0044 a0003c0004t0129	a0002c0001t0016g0015 a0003c0004t0044g0046 a0003c0004t0129g0223 a0002c0001t0016g0015 a0003c0004t0044g0046 a0003c0004t0129g0223	6	388	0.0155	34	c.30 others(45): Show c.3061_*3062insACACACACACACACACACACACACACACACACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3061		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp2 HG03041.hp1 HG02895.hp2 HG03041.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0024 a0004c0005t0024	a0004c0005t0024g0048 a0004c0005t0024g0048	2	388	0.0052	34	c.30 others(45): Show c.3059_*3060insACACACACACACACACACACACACACACACACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSPH14_chr22_23054415_23146990	23130496	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00673.hp2 others(18): Show HG00544.hp2 HG00597.hp1 HG00673.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01975.hp1 HG02027.hp1 HG02280.hp2 HG02602.hp1 HG02738.hp1 HG03704.hp1 HG04228.hp1 NA18747.hp1 NA18957.hp2 NA18970.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0127 a0001c0001t0001g0174 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0127 a0001c0001t0001g0174 a0001c0001t0001g0242 a0001c0001t0001g0279 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0305 a0001c0002t0001g0024 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0001g0129 a0001c0002t0001g0144 a0002c0003t0001g0113 a0002c0003t0001g0122 a0002c0003t0001g0125	21	314	0.0669	34	c.421 others(51): Show c.421+3529_421+3530insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPRY1_chr16_57181329_57245469	57202878	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0319 a0001c0001t0013g0319	1	358	0.0028	34	c.-15 others(53): Show c.-155-1597_-155-1596insATATATATATATATATATATATATAT ATATATAT	RSPRY1	ENSG00000159579.14	transcript	ENST00000394420.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03195.hp1 HG03491.hp1 others(1): Show HG01258.hp2 HG03195.hp1 HG03491.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0004g0269 a0001c0001t0006g0067 a0001c0001t0007g0044 others(1): Show a0001c0001t0004g0269 a0001c0001t0006g0067 a0001c0001t0007g0044 a0001c0001t0007g0194	4	276	0.0145	34	c.321 others(49): Show c.321-491_321-490insATATATATATATATATATATATATATATAT ATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02109.hp2 HG02523.hp1 others(5): Show HG01358.hp1 HG02109.hp2 HG02523.hp1 HG03490.hp2 HG03654.hp2 NA18945.hp2 NA18969.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0096 others(5): Show a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0096 a0001c0001t0001g0206 a0001c0001t0001g0221 a0001c0001t0002g0054 a0001c0001t0010g0187 a0001c0001t0010g0210	8	276	0.0290	34	c.321 others(49): Show c.321-509_321-508insTTATATATATATATATATATATATATATAT ATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477795	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	276	0.0036	34	c.652 others(53): Show c.652+16794_652+16795insATATATATATATATATATATATATAT ATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	276	0.0036	34	c.652 others(53): Show c.652+16824_652+16825insATATATATATATATATATATATATAT ATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG02273.hp2 others(5): Show HG00323.hp1 HG00642.hp2 HG02273.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 NA18983.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0020 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0020 a0001c0001t0026	a0001c0001t0002g0028 a0001c0001t0002g0082 a0001c0001t0002g0234 others(5): Show a0001c0001t0002g0028 a0001c0001t0002g0082 a0001c0001t0002g0234 a0001c0001t0002g0243 a0001c0001t0006g0212 a0001c0001t0006g0232 a0001c0001t0020g0140 a0001c0001t0026g0107	8	276	0.0290	34	c.652 others(53): Show c.652+16796_652+16797insTTATATATATATATATATATATATAT ATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSU1_chr10_16585611_16822424	16683160	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA19088.hp2 HG03492.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0054 a0001c0001t0001 a0001c0002t0054	a0001c0001t0001g0086 a0001c0002t0054g0092 a0001c0001t0001g0086 a0001c0002t0054g0092	2	190	0.0105	34	c.731 others(53): Show c.731+11862_731+11863insACACACACACACACACACACACACAC ACACACAC	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
RTL4_chrX_112078016_112462514	112117146	C C	CATACACT others(27): Show CATACACTATTTACCACATAATCGTTATATGGTAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04199.hp1 HG02602.hp1 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0015 a0002c0001t0001 a0002c0001t0015	a0002c0001t0001g0119 a0002c0001t0015g0062 a0002c0001t0001g0119 a0002c0001t0015g0062	2	134	0.0149	34	c.-56 others(55): Show c.-563-13753_-563-13720dupCATAATCGTTATATGGTAAATACA CTATTTACCA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL4_chrX_112078016_112462514	112190172	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0122 a0002c0001t0013g0122	1	134	0.0075	34	c.-44 others(55): Show c.-445+59075_-445+59108dupCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL6_chr22_44487583_44503233	44491386	C C	CCAAGTCA others(27): Show CCAAGTCAGCTAAAATAGGGAAGTACTGGGCAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	402	0.0025	34	c.54 others(45): Show c.5450_*5451insTCTTGCCCAGTACTTCCCTATTTTAGCTGACTTG	RTL6	ENSG00000188636.4	transcript	ENST00000341255.4	protein_coding		1196		chr22	TogoVar
RTN1_chr14_59590983_59875776	59606125	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0001g0053 a0001c0001t0001g0077	2	172	0.0116	34	c.197 others(51): Show c.1974-620_1974-619insTTATATATATATATATATATATATATAT ATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0035 a0002c0002t0002g0035	1	170	0.0059	34	c.142 others(51): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTP5_chr2_241864729_241878823	241866265	G G	GGCTGAGC others(27): Show GGCTGAGCTGCGCGGGATGCTGAGCTGCGCGGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(48): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00621.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01517.hp1 HG01891.hp1 HG01975.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02165.hp1 HG02273.hp1 HG02572.hp1 HG02602.hp1 HG02683.hp1 HG02738.hp1 HG02818.hp2 HG03017.hp2 HG03239.hp2 HG03453.hp1 HG03704.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18970.hp1 NA18980.hp1 NA18985.hp1 NA18991.hp2 NA19010.hp2 NA19030.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20805.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0015	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0015c0016	a0001c0001t0032 a0003c0003t0002 a0003c0003t0003 others(5): Show a0001c0001t0032 a0003c0003t0002 a0003c0003t0003 a0003c0003t0014 a0003c0003t0023 a0003c0003t0039 a0004c0004t0001 a0015c0016t0003	a0001c0001t0032g0006 a0003c0003t0002g0020 a0003c0003t0003g0001 others(9): Show a0001c0001t0032g0006 a0003c0003t0002g0020 a0003c0003t0003g0001 a0003c0003t0003g0019 a0003c0003t0003g0034 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0014g0033 a0003c0003t0023g0001 a0003c0003t0039g0001 a0004c0004t0001g0003 a0015c0016t0003g0001	51	365	0.1397	34	c.-34 others(45): Show c.-3492_-3491insGCTGAGCTGCGCGGGATGCTGAGCTGCGCGGGAT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3463		chr2	TogoVar
RTP5_chr2_241864729_241878823	241866310	G G	GGGGGGAT others(27): Show GGGGGGATGCTGAGCTGCGGGGGATGCTGAGCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03041.hp2 HG02451.hp2 HG03041.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0006 a0008c0008t0006	a0008c0008t0006g0011 a0008c0008t0006g0011	2	365	0.0055	34	c.-34 others(45): Show c.-3447_-3446insGGGGGATGCTGAGCTGCGGGGGATGCTGAGCTGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3418		chr2	TogoVar
RUBCN_chr3_197663867_197741904	197678724	T T	TCAGACTG others(27): Show TCAGACTGTCCTACGCTCTAACTGACAACTGGCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01169.hp2 HG01496.hp1 others(4): Show HG00438.hp2 HG01169.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01981.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088	7	186	0.0376	34	c.243 others(53): Show c.2431-1217_2431-1184dupGAGCCAGTTGTCAGTTAGAGCGTAGG ACAGTCTG	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	16/19			chr3	TogoVar
RUBCN_chr3_197663867_197741904	197679482	T T	TCTGACAA others(27): Show TCTGACAACTGGCTCCAGACTGTCCTACGCTCTAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG01934.hp1 others(12): Show HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02109.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03516.hp2 NA19030.hp1 NA19043.hp2	a0002 a0013 a0002 a0013	a0002c0003 a0013c0019 a0002c0003 a0013c0019	a0002c0003t0003 a0002c0003t0045 a0002c0003t0046 others(1): Show a0002c0003t0003 a0002c0003t0045 a0002c0003t0046 a0013c0019t0003	a0002c0003t0003g0001 a0002c0003t0003g0003 a0002c0003t0003g0009 others(8): Show a0002c0003t0003g0001 a0002c0003t0003g0003 a0002c0003t0003g0009 a0002c0003t0003g0010 a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0003g0015 a0002c0003t0045g0016 a0002c0003t0046g0011 a0013c0019t0003g0017	15	186	0.0807	34	c.243 others(53): Show c.2430+1613_2430+1646dupTTAGAGCGTAGGACAGTCTGGAGCCA GTTGTCAG	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	16/19			chr3	TogoVar
RUBCN_chr3_197663867_197741904	197680520	C C	CTACGCTC others(27): Show CTACGCTCTAACTGACAACTGGCTTCAGACTGTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	186	0.0054	34	c.243 others(51): Show c.2430+575_2430+608dupAGACAGTCTGAAGCCAGTTGTCAGTTAG AGCGTA	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	16/19			chr3	TogoVar
RUFY3_chr4_70716964_70813619	70765209	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	254	0.0039	34	c.572 others(49): Show c.572+634_572+635insGTGTATATATATATATACATATATATATAT ATAT	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUFY3_chr4_70716964_70813619	70774644	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0241 a0001c0001t0008g0241	1	254	0.0039	34	c.759 others(49): Show c.759-523_759-522insAAAAAAAAAAAAAAAAAAAAAAAAAATATA TATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(27): Show ATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0042 a0001c0002t0025g0042	1	132	0.0076	34	c.88+ others(51): Show c.88+15411_88+15412insCACACACACACATATATATATATATATA TATATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(27): Show ATATATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	132	0.0076	34	c.88+ others(51): Show c.88+15411_88+15412insCACACACACACACACACATATATATATA TATATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34849346	T T	TATAGTAT others(27): Show TATAGTATATATAATATATTATATATACTATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	170	0.0059	34	c.613 others(53): Show c.613+10094_613+10127dupGTATATAGTATATATAATATATTATA TATACTAT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	170	0.0059	34	c.59- others(51): Show c.59-37308_59-37307insTATATATATATATATATATATATACACA CACACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0068 a0001c0001t0020g0068	1	170	0.0059	34	c.59- others(51): Show c.59-74357_59-74356insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUVBL1_chr3_128075810_128128812	128126226	T T	TGCTAAAT others(27): Show TGCTAAATAACAGTTCAAACATCACTGATGGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02647.hp1 HG00639.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	2	360	0.0056	34	c.-25 others(45): Show c.-2503_-2502insTGGCCCATCAGTGATGTTTGAACTGTTATTTAGC	RUVBL1	ENSG00000175792.12	transcript	ENST00000322623.10	protein_coding		2415		chr3	TogoVar
RUVBL2_chr19_48988887_49020970	48990202	C C	CTGCCGCC others(27): Show CTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	412	0.0024	34	c.-37 others(45): Show c.-3710_-3709insTGCCGCCTGATGGCTTTCTCCTTGGACAACAGCG	RUVBL2	ENSG00000183207.15	transcript	ENST00000595090.6	protein_coding		3684		chr19	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18612.hp2 HG02965.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0404 a0001c0001t0001g0091 a0001c0001t0001g0404	2	480	0.0042	34	c.535 others(51): Show c.535-1948_535-1947insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	210	0.0048	34	c.49+ others(51): Show c.49+20085_49+20086insATATATATATATATATATATATATATAT TTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0100 a0002c0002t0001g0101	2	210	0.0095	34	c.49+ others(51): Show c.49+20085_49+20086insATATATATATATATATATATATATATTT TTTTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP4_chr1_155936638_155948087	155937054	A A	AGGGGGGG others(27): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	312	0.0032	34	c.-46 others(45): Show c.-4656_-4655insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	RXFP4	ENSG00000173080.6	transcript	ENST00000368318.5	protein_coding		4583		chr1	TogoVar
RYR2_chr1_237037184_237838988	237082524	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0093 a0001c0004t0020g0093	1	100	0.0100	34	c.48+ others(51): Show c.48+39988_48+39989insTATATATATATATATATATATATATATA TATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237284505	A A	AAATATAT others(27): Show AAATATATAAATATATATAATATGTAAATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp1 HG01109.hp2 others(32): Show HG00609.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01981.hp1 HG02055.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0015 a0001c0018 a0001c0019 a0001c0022 a0001c0028 a0001c0029 a0001c0040 a0001c0045 a0002c0012 a0002c0025 a0002c0035 a0002c0038 a0004c0034 a0006c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0002t0031 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0005t0006 a0001c0007t0016 a0001c0008t0027 a0001c0008t0028 a0001c0008t0042 a0001c0010t0004 a0001c0011t0044 a0001c0015t0006 a0001c0018t0032 a0001c0019t0022 a0001c0022t0014 a0001c0028t0007 a0001c0029t0008 a0001c0040t0039 a0001c0045t0001 a0002c0012t0023 a0002c0025t0040 a0002c0035t0021 a0002c0038t0043 a0004c0034t0011 a0006c0020t0001	a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0004g0036 others(32): Show a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0004g0036 a0001c0001t0006g0025 a0001c0001t0007g0011 a0001c0001t0041g0001 a0001c0002t0001g0070 a0001c0002t0002g0022 a0001c0002t0003g0008 a0001c0002t0013g0017 a0001c0002t0031g0033 a0001c0003t0004g0016 a0001c0004t0001g0058 a0001c0004t0002g0092 a0001c0005t0006g0029 a0001c0007t0016g0042 a0001c0008t0027g0081 a0001c0008t0028g0039 a0001c0008t0042g0002 a0001c0010t0004g0097 a0001c0011t0044g0054 a0001c0015t0006g0034 a0001c0018t0032g0041 a0001c0019t0022g0035 a0001c0022t0014g0066 a0001c0028t0007g0062 a0001c0029t0008g0090 a0001c0040t0039g0095 a0001c0045t0001g0073 a0002c0012t0023g0074 a0002c0025t0040g0003 a0002c0035t0021g0010 a0002c0038t0043g0096 a0004c0034t0011g0043 a0006c0020t0001g0015	35	100	0.3500	34	c.168 others(53): Show c.168+13897_168+13898insAATATATATAATATGTAAATATATAT AATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0005 a0001c0030t0005	a0001c0030t0005g0053 a0001c0030t0005g0053	1	100	0.0100	34	c.774 others(51): Show c.774-8643_774-8642insTATATATATATATATATATATATATATA TATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473431	C C	CTCTCTTT others(27): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0052 a0001c0002t0003g0052	1	100	0.0100	34	c.170 others(53): Show c.1708+4247_1708+4248insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473431	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0034 a0001c0005t0034	a0001c0005t0034g0028 a0001c0005t0034g0028	1	100	0.0100	34	c.170 others(53): Show c.1708+4245_1708+4246insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473442	T T	TTTCTTTC others(27): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0020 a0001c0007t0001g0020	1	100	0.0100	34	c.170 others(53): Show c.1708+4275_1708+4276insTTCTTTCTTTCTTCTTCTTTCTTTCT TTCTTTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237565173	T T	TTCTTCCT others(27): Show TTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0087 a0001c0003t0002g0087	1	100	0.0100	34	c.321 others(53): Show c.3215-1390_3215-1389insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTCTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	27/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237789505	C C	CCATGGCT others(27): Show CCATGGCTGCAGGTATAGTTCTATTAATTATAGGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0023 a0002c0012t0023	a0002c0012t0023g0074 a0002c0012t0023g0074	1	100	0.0100	34	c.134 others(55): Show c.13476+1395_13476+1396insATTATAGGTCATGGCTGCAGGTAT AGTTCTATTA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	92/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237789517	G G	GTATAGTT others(27): Show GTATAGTTCTATTAATTATAGGTCATGGCTGCAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03453.hp2 HG00408.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0016 a0001c0005 a0001c0016	a0001c0005t0011 a0001c0016t0033 a0001c0005t0011 a0001c0016t0033	a0001c0005t0011g0061 a0001c0016t0033g0024 a0001c0005t0011g0061 a0001c0016t0033g0024	2	100	0.0200	34	c.134 others(55): Show c.13476+1395_13476+1396insATTATAGGTCATGGCTGCAGATAT AGTTCTATTA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	92/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0039 a0001 a0039	a0001c0010 a0039c0064 a0001c0010 a0039c0064	a0001c0010t0001 a0039c0064t0003 a0001c0010t0001 a0039c0064t0003	a0001c0010t0001g0051 a0039c0064t0003g0052 a0001c0010t0001g0051 a0039c0064t0003g0052	2	154	0.0130	34	c.51+ others(51): Show c.51+68592_51+68593insCTCTCTCTCTATATATATATATATATAT ATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0148 a0001c0002t0005g0148	1	354	0.0028	34	c.-28 others(45): Show c.-2803_-2802insTATATATATATATATATATATTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 NA18970.hp2 HG00673.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	2	354	0.0057	34	c.-28 others(45): Show c.-2803_-2802insTATATATATATATATATATTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(27): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0016 a0001c0002t0006g0016	1	354	0.0028	34	c.-28 others(45): Show c.-2803_-2802insTATATATATATATATTTTTTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar

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Search Results (Total: 7994 hits)