Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RNFT2_chr12_116733315_116858631	116785275	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0220 a0001c0001t0057g0220	1	190	0.0053	23	c.882 others(40): Show c.882+5927_882+5928insTGTGTGTGTGTGTGTGTGTGTGT	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
RNFT2_chr12_116733315_116858631	116832148	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0083 a0001c0004t0001g0083	1	24	0.0417	23	c.883 others(40): Show c.883-1644_883-1643insTATATATATATATATATATATAT	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10			chr12	TogoVar
RNGTT_chr6_88604897_88968618	88647701	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19001.hp1 HG01496.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0009 a0001c0001t0002 a0001c0002t0009	a0001c0001t0002g0176 a0001c0002t0009g0133 a0001c0001t0002g0176 a0001c0002t0009g0133	2	107	0.0187	23	c.150 others(44): Show c.1506+30651_1506+30652insTTTTTTTTTTTTTTTTTTTTTTT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNGTT_chr6_88604897_88968618	88647715	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	200	0.0050	23	c.150 others(44): Show c.1506+30637_1506+30638insCTTTTTTTTTTTTTTTTTTTTTT	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15			chr6	TogoVar
RNLS_chr10_88279102_88588318	88310814	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	232	0.0043	23	c.876 others(40): Show c.876+3651_876+3652insCTTTTTTTTTTTTTTTTTTTTTT	RNLS	ENSG00000184719.13	transcript	ENST00000331772.9	protein_coding	6/6			chr10	TogoVar
RNMT_chr18_13721673_13769556	13744156	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0117 a0001c0001t0038g0117	1	371	0.0027	23	c.113 others(42): Show c.1139+1506_1139+1507insTTTTTTTTTTTTTTTTTTTTTTT	RNMT	ENSG00000101654.18	transcript	ENST00000383314.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ROBO1_chr3_78592239_79772998	78860326	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0034 a0001c0001t0010g0034	1	11	0.0909	23	c.499 others(42): Show c.499+78274_499+78275insAAATATATATATATATATATATA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	4/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79395340	A A	AAAAAAAG others(16): Show AAAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0038 a0001c0011t0001g0038	1	25	0.0400	23	c.88+ others(42): Show c.88+194483_88+194484insCTTTCTTTCTTTCTTTCTTTTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79575490	A A	AATATATA others(16): Show AATATATAAATATATATAACAAAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 HG03225.hp2 HG02451.hp2 HG02922.hp2 HG03225.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0010 a0001c0001 a0001c0007 a0004c0010	a0001c0001t0001 a0001c0007t0003 a0004c0010t0002 a0001c0001t0001 a0001c0007t0003 a0004c0010t0002	a0001c0001t0001g0012 a0001c0007t0003g0032 a0004c0010t0002g0031 a0001c0001t0001g0012 a0001c0007t0003g0032 a0004c0010t0002g0031	3	44	0.0682	23	c.88+ others(40): Show c.88+14311_88+14333dupATTTGTTATATATATTTATATAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79625423	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0029 a0001c0005t0002g0029	1	5	0.2000	23	c.-50 others(42): Show c.-50-35463_-50-35462insTTTTTTTTTTTTTTTTTTTTTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79711928	T T	TGGGGGGG others(16): Show TGGGGGGGGGAGCACTATGAACGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0031 a0004c0010t0002g0031	1	33	0.0303	23	c.-51 others(42): Show c.-51+55823_-51+55824insCCGTTCATAGTGCTCCCCCCCCC	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77252825	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0096 a0001c0001t0027g0096	1	129	0.0078	23	c.388 others(44): Show c.388+154485_388+154486insTATATATATATATATATATATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77386603	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03654.hp2 HG01258.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0036 a0001c0001t0040g0057 a0001c0001t0001g0036 a0001c0001t0040g0057	2	18	0.1111	23	c.389 others(42): Show c.389-90794_389-90793insTTTTTTTTTTTTTTTTTTTTTTT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK1_chr18_20941906_21116813	20959130	T T	TTATATAT others(16): Show TTATATATAATATATATAATATTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02976.hp1 NA19043.hp2 HG02257.hp2 HG02976.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203	3	140	0.0214	23	c.351 others(40): Show c.3512+709_3512+710insTAATATTATATATATTATATATA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	20959132	A A	ATATATAT others(16): Show ATATATATTATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp2 HG01891.hp2 others(3): Show HG01071.hp2 HG01496.hp2 HG01891.hp2 HG02486.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 others(3): Show a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0017g0211 a0001c0001t0017g0212	6	203	0.0296	23	c.351 others(40): Show c.3512+707_3512+708insATATATATATTATATAATATATA	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	29/32			chr18	TogoVar
ROCK1_chr18_20941906_21116813	21033854	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp2 NA18612.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0021 a0001c0001t0015 a0001c0001t0021	a0001c0001t0015g0127 a0001c0001t0021g0065 a0001c0001t0015g0127 a0001c0001t0021g0065	2	28	0.0714	23	c.105 others(42): Show c.1052-4942_1052-4920dupTTTTTTTTTTTTTTTTTTTTTTT	ROCK1	ENSG00000067900.9	transcript	ENST00000399799.3	protein_coding	9/32			chr18	TogoVar
ROCK2_chr2_11174759_11349636	11248708	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03579.hp2 HG02280.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0055 a0002c0002t0002 a0001c0001t0055 a0002c0002t0002	a0001c0001t0055g0261 a0002c0002t0002g0079 a0001c0001t0055g0261 a0002c0002t0002g0079	2	32	0.0625	23	c.462 others(38): Show c.462+930_462+952dupTTTTTTTTTTTTTTTTTTTTTTT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295989	A A	AGAGAGAG others(16): Show AGAGAGAGGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	290	0.0034	23	c.142 others(40): Show c.142-8254_142-8253insCCTCTCTCTCTCTCTCCTCTCTC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGAGAGAG others(16): Show GGAGAGAGAGAGAGAGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA18957.hp1 NA19066.hp1 HG01928.hp2 NA18957.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0002 a0002c0002t0002 a0002c0004t0002	a0002c0002t0002g0016 a0002c0002t0002g0067 a0002c0004t0002g0070 a0002c0002t0002g0016 a0002c0002t0002g0067 a0002c0004t0002g0070	3	48	0.0625	23	c.142 others(40): Show c.142-8270_142-8269insTCTCTCCCCTCTCTCTCTCTCTC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02258.hp2 HG00733.hp1 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0046 a0002c0002t0003g0066 a0002c0002t0002g0046 a0002c0002t0003g0066	2	67	0.0299	23	c.141 others(42): Show c.141+26383_141+26384insAAAAATATATATATATATATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19081.hp2 NA19043.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0076 a0002c0002t0002 a0002c0002t0076	a0002c0002t0002g0019 a0002c0002t0076g0228 a0002c0002t0002g0019 a0002c0002t0076g0228	2	67	0.0299	23	c.141 others(42): Show c.141+26383_141+26384insAAAAAAATATATATATATATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03540.hp2 HG01255.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0079 a0001c0001t0001 a0002c0002t0079	a0001c0001t0001g0181 a0002c0002t0079g0318 a0001c0001t0001g0181 a0002c0002t0079g0318	2	67	0.0299	23	c.141 others(42): Show c.141+26383_141+26384insAAAAAAAAAAATATATATATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11317612	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03098.hp2 HG02818.hp1 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0007 a0002c0002t0015g0008 a0002c0002t0015g0007 a0002c0002t0015g0008	2	67	0.0299	23	c.141 others(42): Show c.141+26383_141+26384insAAAAAAAAAAAAATATATATATA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROPN1_chr3_123964015_123997124	123985992	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02615.hp2 HG02818.hp1 HG01243.hp1 HG02615.hp2 HG02818.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0053 a0002c0005t0001g0224 a0002c0005t0001g0053 a0002c0005t0001g0224	3	355	0.0085	23	c.-12 others(40): Show c.-12-5522_-12-5500dupTTTTTTTTTTTTTTTTTTTTTTT	ROPN1	ENSG00000065371.18	transcript	ENST00000405845.8	protein_coding	1/5			chr3	TogoVar
ROPN1_chr3_123964015_123997124	123986018	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18946.hp2 HG03490.hp1 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0091 a0001c0002t0001g0092	2	18	0.1111	23	c.-12 others(40): Show c.-12-5526_-12-5525insATTTTTTTTTTTTTTTTTTTTTT	ROPN1	ENSG00000065371.18	transcript	ENST00000405845.8	protein_coding	1/5			chr3	TogoVar
ROR1_chr1_63769017_64186498	64053965	A A	ATTTTATT others(16): Show ATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02723.hp2 others(1): Show HG02109.hp2 HG02615.hp2 HG02723.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0013t0004	a0001c0001t0001g0023 a0001c0002t0001g0063 a0001c0002t0005g0047 others(1): Show a0001c0001t0001g0023 a0001c0002t0001g0063 a0001c0002t0005g0047 a0001c0013t0004g0085	4	90	0.0444	23	c.482 others(40): Show c.482+3253_482+3254insATTTTATTTTATTTTATTTTTTT	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR2_chr9_91717601_91955228	91937029	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0148 a0001c0005t0003g0148	1	62	0.0161	23	c.97+ others(40): Show c.97+12837_97+12838insTTTTTTTTTTTTTTTTTTTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60517110	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp2 HG03139.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0024 a0001c0005t0004g0027 a0001c0005t0004g0024 a0001c0005t0004g0027	2	24	0.0833	23	c.283 others(40): Show c.283-2354_283-2353insAAAAAAAAAAAAAAAAAAAAAAA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60611559	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02723.hp1 HG01358.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0050 a0001c0002t0003 a0001c0001t0050 a0001c0002t0003	a0001c0001t0050g0062 a0001c0002t0003g0017 a0001c0001t0050g0062 a0001c0002t0003g0017	2	11	0.1818	23	c.196 others(42): Show c.196+67075_196+67097dupTTTTTTTTTTTTTTTTTTTTTTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60943916	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19003.hp1 HG00438.hp1 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0002c0009t0007 a0001c0001t0001 a0002c0009t0007	a0001c0001t0001g0046 a0002c0009t0007g0118 a0001c0001t0001g0046 a0002c0009t0007g0118	2	8	0.2500	23	c.167 others(44): Show c.167-265253_167-265231dupTTTTTTTTTTTTTTTTTTTTTTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
ROS1_chr6_117282353_117430942	117406239	T T	TTATGTTA others(16): Show TTATGTTATTAGCTATTTATTTAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02976.hp2 HG02809.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0051 a0001c0001 a0001c0051	a0001c0001t0022 a0001c0051t0006 a0001c0001t0022 a0001c0051t0006	a0001c0001t0022g0013 a0001c0051t0006g0014 a0001c0001t0022g0013 a0001c0051t0006g0014	2	320	0.0063	23	c.317 others(40): Show c.317-1834_317-1812dupTTAAATAAATAGCTAATAACATA	ROS1	ENSG00000047936.11	transcript	ENST00000368507.8	protein_coding	5/43			chr6	TogoVar
RP9_chr7_33089797_33114404	33089886	A A	AATGGATG others(16): Show AATGGATGAGATCACAGAAGAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	23	c.53 others(34): Show c.5347_*5348insCACTCTTCTGTGATCTCATCCAT	RP9	ENSG00000164610.10	transcript	ENST00000297157.8	protein_coding		4910		chr7	TogoVar
RPA2_chr1_27886524_27919575	27916990	T T	TCCTTCCT others(16): Show TCCTTCCTCCTTCCTTCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(97): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02074.hp2 HG02080.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02602.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18946.hp2 NA18952.hp2 NA18957.hp1 NA18961.hp2 NA18969.hp2 NA18974.hp1 NA18980.hp1 NA18982.hp1 NA18989.hp1 NA18989.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19058.hp1 NA19060.hp1 NA19068.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp1 NA19088.hp1 NA19089.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0002g0029 a0001c0001t0008g0185 a0001c0001t0010g0053	100	332	0.3012	23	c.-25 others(34): Show c.-2548_-2547insGAGGGAGGAAGGAAGGAGGAAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2416		chr1	TogoVar
RPA3_chr7_7631518_7723607	7678724	T T	TATATTTA others(16): Show TATATTTATATATTTAGTTTATAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02895.hp2 others(3): Show HG02559.hp1 HG02630.hp2 HG02895.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0059 a0001c0001t0002g0236 a0001c0001t0005g0004 others(3): Show a0001c0001t0001g0059 a0001c0001t0002g0236 a0001c0001t0005g0004 a0001c0001t0005g0058 a0001c0001t0005g0060 a0001c0001t0005g0061	6	301	0.0199	23	c.-75 others(42): Show c.-758+7105_-758+7106insTTATAAACTAAATATATAAATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0008 a0002c0004t0011g0008	1	51	0.0196	23	c.399 others(40): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPAP3_chr12_47656249_47711030	47695094	A A	AGAAAGAA others(16): Show AGAAAGAAAGAGGGACAGAAGGAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03195.hp1 HG02280.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	2	412	0.0049	23	c.545 others(40): Show c.545+1159_545+1181dupCTCCTTCTGTCCCTCTTTCTTTC	RPAP3	ENSG00000005175.10	transcript	ENST00000005386.8	protein_coding	5/16			chr12	TogoVar
RPGRIP1L_chr16_53593153_53708859	53617073	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0071 a0008c0012t0001g0071	1	82	0.0122	23	c.361 others(42): Show c.3616+1929_3616+1951dupTTTTTTTTTTTTTTTTTTTTTTT	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	24/26			chr16	TogoVar
RPGRIP1_chr14_21275083_21356301	21275949	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03486.hp1 NA20129.hp1 HG02976.hp1 HG03486.hp1 NA20129.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0004 a0003c0003 a0008c0009 a0001c0004 a0003c0003 a0008c0009	a0001c0004t0001 a0003c0003t0001 a0008c0009t0001 a0001c0004t0001 a0003c0003t0001 a0008c0009t0001	a0001c0004t0001g0129 a0003c0003t0001g0248 a0008c0009t0001g0252 a0001c0004t0001g0129 a0003c0003t0001g0248 a0008c0009t0001g0252	3	12	0.2500	23	c.-42 others(34): Show c.-4249_-4248insTTTTTTTTTTTTTTTTTTTTTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding		4133		chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297878	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp2 NA18963.hp1 HG03195.hp1 HG03195.hp2 NA18963.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0004 a0014c0019 a0001c0001 a0001c0004 a0014c0019	a0001c0001t0001 a0001c0004t0001 a0014c0019t0001 a0001c0001t0001 a0001c0004t0001 a0014c0019t0001	a0001c0001t0001g0203 a0001c0004t0001g0193 a0014c0019t0001g0192 a0001c0001t0001g0203 a0001c0004t0001g0193 a0014c0019t0001g0192	3	323	0.0093	23	c.218 others(40): Show c.218+3071_218+3072insCTTTCTTTCTTTCTTTCTTTCTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01943.hp1 HG02615.hp2 others(3): Show HG01109.hp2 HG01943.hp1 HG02615.hp2 HG02717.hp2 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0013 a0001c0001t0056 a0001c0002t0053 others(2): Show a0001c0001t0013 a0001c0001t0056 a0001c0002t0053 a0001c0003t0054 a0001c0003t0055	a0001c0001t0013g0080 a0001c0001t0013g0252 a0001c0001t0056g0052 others(3): Show a0001c0001t0013g0080 a0001c0001t0013g0252 a0001c0001t0056g0052 a0001c0002t0053g0036 a0001c0003t0054g0043 a0001c0003t0055g0211	6	12	0.5000	23	c.-28 others(32): Show c.-285_-284insAGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36451		chr12	TogoVar
RPH3A_chr12_112786748_112903881	112841173	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02257.hp2 NA18946.hp2 HG00639.hp1 HG02257.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0001t0155 a0001c0002t0065 a0001c0001t0029 a0001c0001t0155 a0001c0002t0065	a0001c0001t0029g0215 a0001c0001t0155g0168 a0001c0002t0065g0173 a0001c0001t0029g0215 a0001c0001t0155g0168 a0001c0002t0065g0173	3	10	0.3000	23	c.83+ others(38): Show c.83+4692_83+4693insAAAAAAAAAAAAAAAAAAAAAAA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL13A_chr19_49482608_49497308	49493834	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG04184.hp1 others(2): Show HG02970.hp1 HG03516.hp1 HG04184.hp1 NA18947.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0032 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0002g0028	5	22	0.2273	23	c.20 others(34): Show c.2019_*2020insTTTTTTTTTTTTTTTTTTTTTTT	RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding		1527		chr19	TogoVar
RPL23_chr17_38842860_38858721	38842869	C C	CTATCTAT others(16): Show CTATCTATCTATCTATCTATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03710.hp2 HG03831.hp1 HG03139.hp2 HG03710.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0040 a0001c0001t0006g0006 a0001c0001t0006g0040	3	416	0.0072	23	c.72 others(34): Show c.7262_*7263insATAGATAGATAGATAGATAGATA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4990		chr17	TogoVar
RPL23_chr17_38842860_38858721	38845111	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	405	0.0025	23	c.50 others(34): Show c.5020_*5021insAAAAAAAAAAAAAAAAAAAAAAA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		2748		chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19059.hp2 HG03654.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0096 a0001c0001t0001g0080 a0001c0001t0001g0096	2	9	0.2222	23	c.192 others(40): Show c.192+1019_192+1041dupTTTTTTTTTTTTTTTTTTTTTTT	RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5			chr3	TogoVar
RPL26L1_chr5_172954424_172974771	172964281	C C	CCTTTTTT others(16): Show CCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	101	0.0099	23	c.169 others(40): Show c.169-4178_169-4177insCTTTTTTTTTTTTTTTTTTTTTT	RPL26L1	ENSG00000037241.7	transcript	ENST00000265100.6	protein_coding	2/3			chr5	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01175.hp1 HG00609.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0010 a0001c0001t0001g0033	2	63	0.0317	23	c.26 others(34): Show c.2604_*2626dupTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037419	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	439	0.0023	23	c.43 others(34): Show c.4381_*4382insTATATATATATATATATATATAT	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4301		chr8	TogoVar
RPL36_chr19_5685295_5696875	5694638	C C	CGGGCGCG others(16): Show CGGGCGCGGGGGTGGTGGGGTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	377	0.0027	23	c.30 others(34): Show c.3017_*3018insGGGCGCGGGGGTGGTGGGGTGAT	RPL36	ENSG00000130255.13	transcript	ENST00000347512.8	protein_coding		2764		chr19	TogoVar
RPL36_chr19_5685295_5696875	5696635	C C	CGGGTCAG others(16): Show CGGGTCAGGGTTGCCTGGGGCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG02027.hp2 others(6): Show HG01243.hp2 HG01346.hp1 HG02027.hp2 HG03688.hp1 NA18943.hp1 NA18946.hp2 NA18999.hp1 NA19003.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0001 a0001c0001t0001g0001 a0001c0001t0006g0001	9	391	0.0230	23	c.50 others(34): Show c.5014_*5015insGGGTCAGGGTTGCCTGGGGCTCT	RPL36	ENSG00000130255.13	transcript	ENST00000347512.8	protein_coding		4761		chr19	TogoVar

Search by Variant

Search

Search Results