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
ESYT2_chr7_158725997_158834509	158729701	G G	GGGGGGGA others(20): Show GGGGGGGAGGAGCAAGTGTGGAGGTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG06807.hp1 HG02970.hp2 HG03195.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0181 a0003c0003t0004g0186 a0003c0003t0004g0187 a0003c0003t0004g0181 a0003c0003t0004g0186 a0003c0003t0004g0187	3	345	0.0087	27	c.45 others(38): Show c.4505_*4506insAGCACCTCCACACTTGCTCCTCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1295		chr7	TogoVar
ESYT2_chr7_158725997_158834509	158729712	A A	AGCAAGTG others(20): Show AGCAAGTGTGGAGGTGCTGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0218 a0004c0005t0001g0218	1	244	0.0041	27	c.44 others(38): Show c.4494_*4495insCCCTCCCCCCAGCACCTCCACACTTGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1284		chr7	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	17	0.0588	27	c.40- others(40): Show c.40-200_40-199insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76310068	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG02004.hp1 HG00438.hp2 HG00621.hp2 HG02004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0210 a0002c0002t0004g0261 a0002c0002t0004g0262 a0001c0001t0002g0210 a0002c0002t0004g0261 a0002c0002t0004g0262	3	23	0.1304	27	c.39+ others(42): Show c.39+1255_39+1281dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02735.hp2 HG02622.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0227 a0001c0001t0002g0214 a0001c0001t0002g0227	2	12	0.1667	27	c.-54 others(36): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(20): Show GATATATATATTTTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0061	1	250	0.0040	27	c.701 others(42): Show c.701+321_701+322insATATATATATATATAAAATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(20): Show GATATATATTTTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0285 a0005c0008t0002g0285	1	250	0.0040	27	c.701 others(42): Show c.701+321_701+322insATATATATATATATATAAAATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108753800	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	335	0.0030	27	c.502 others(42): Show c.502-790_502-789insTCTTTTCTTTTCTTTCTTTCTTTCTTT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	5/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128585087	A A	AAAGGAAA others(20): Show AAAGGAAAGAAAGAAAGGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	283	0.0035	27	c.-15 others(44): Show c.-15+2400_-15+2401insCCTTCTTCTTCCTTTCTTTCTTTCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 NA18998.hp1 HG01943.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	5	0.4000	27	c.-32 others(38): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
ETV6_chr12_11644674_11900377	11887064	G G	GGTAACTT others(20): Show GGTAACTTAGGAATAGTAAAAGCAATTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0069 a0001c0001t0020g0069	1	260	0.0038	27	c.125 others(46): Show c.1253+1039_1253+1065dupGTAACTTAGGAATAGTAAAAGCAATT A	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19088.hp2 NA20805.hp1 HG00621.hp1 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0294 a0001c0001t0002g0345 a0001c0001t0004g0235 a0001c0001t0002g0294 a0001c0001t0002g0345 a0001c0001t0004g0235	3	289	0.0104	27	c.-19 others(46): Show c.-192+5343_-192+5344insGAGAGAGAGAGAGAGAGAGAGAGAGA G	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVC2_chr4_5557439_5713559	5662474	A A	AATATTAA others(20): Show AATATTAAATATAATATTAATATTAAAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0045 a0002c0045	a0002c0045t0001 a0002c0045t0001	a0002c0045t0001g0081 a0002c0045t0001g0081	1	250	0.0040	27	c.114 others(44): Show c.1145+606_1145+632dupATTTAATATTAATATTATATTTAATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVI5_chr1_92503696_92790108	92751656	T T	TGTGAAAA others(20): Show TGTGAAAATGCTTTTTCTACTGTTACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02280.hp1 others(7): Show HG01891.hp1 HG02055.hp1 HG02280.hp1 HG03139.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0065 others(7): Show a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072	10	166	0.0602	27	c.-81 others(46): Show c.-81-15056_-81-15030dupGTGTAACAGTAGAAAAAGCATTTTCA C	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	1/19			chr1	TogoVar
EVX2_chr2_176072472_176088962	176084420	G G	GTTTGTTT others(20): Show GTTTGTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	413	0.0024	27	c.-64 others(36): Show c.-645_-644insAAAAAAAAAAAAAAAAAAAAAAACAAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		459		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03209.hp2 HG03041.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0003 a0001c0001t0010g0018 a0001c0001t0001g0003 a0001c0001t0010g0018	2	107	0.0187	27	c.-64 others(36): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAAAAAAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EXD3_chr9_137301896_137428162	137346238	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0024 a0024	a0024c0036 a0024c0036	a0024c0036t0001 a0024c0036t0001	a0024c0036t0001g0003 a0024c0036t0001g0003	1	37	0.0270	27	c.199 others(46): Show c.1998+1806_1998+1832dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501140	A A	ATATATTA others(20): Show ATATATTATATATTATATTATATATATC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 NA18981.hp2 HG00738.hp1 HG01175.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0004 a0001c0004t0001 a0001c0001t0001 a0001c0002t0004 a0001c0004t0001	a0001c0001t0001g0249 a0001c0002t0004g0018 a0001c0004t0001g0213 a0001c0001t0001g0249 a0001c0002t0004g0018 a0001c0004t0001g0213	3	173	0.0173	27	c.238 others(46): Show c.2381-1441_2381-1440insGATATATATAATATAATATATAATAT A	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501147	T T	TTATATAT others(20): Show TTATATATATCTATATATCATATATATC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	264	0.0038	27	c.238 others(46): Show c.2381-1448_2381-1447insGATATATATGATATATAGATATATAT A	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501147	T T	TTATATAT others(20): Show TTATATATATCTATATATTATATATATC	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	264	0.0038	27	c.238 others(46): Show c.2381-1448_2381-1447insGATATATATAATATATAGATATATAT A	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	658629	A A	AATATATA others(20): Show AATATATATATATATTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0178 a0001c0003t0002g0178	1	257	0.0039	27	c.-43 others(46): Show c.-43-20795_-43-20769dupATATATATATAAAATATATATATATA T	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC2_chr6_480154_698139	658645	T T	TTATATAT others(20): Show TTATATATATATATATATATATATTTTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0175 a0001c0002t0008g0175	1	226	0.0044	27	c.-43 others(46): Show c.-43-20785_-43-20784insTAAAATATATATATATATATATATAT A	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC3_chr5_438176_472290	443229	G G	GGGCGGCG others(20): Show GGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	78	0.0128	27	c.-95 others(34): Show c.-95_-69dupGCGGCGGCGGCGGCGGCGGCGGCGGCG	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding	1/13	2927	INFO_REALIGN_3_PRIME	chr5	TogoVar
EXOC4_chr7_133248078_134070761	133604710	C C	CCTTCCTT others(20): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	21	0.0476	27	c.141 others(48): Show c.1418-25335_1418-25334insCTTCCTTCCTTCCTTCCTTCCTTC TTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17			chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72397660	T T	TAAAATAA others(20): Show TAAAATAAAATAAAATAAAATAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01884.hp1 others(9): Show HG00323.hp1 HG00735.hp1 HG01884.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03486.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0058 a0001c0001t0002g0009 a0001c0001t0002g0010 others(9): Show a0001c0001t0001g0058 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0003g0056 a0001c0001t0006g0053 a0001c0001t0008g0012 a0001c0001t0012g0027 a0001c0001t0012g0050 a0001c0002t0001g0014 a0001c0002t0001g0015	12	70	0.1714	27	c.198 others(48): Show c.1981-17791_1981-17790insTTTTTTTATTTTATTTTATTTTAT TTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOSC1_chr10_97430909_97451006	97449861	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG03098.hp2 others(1): Show HG01884.hp2 HG02280.hp1 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0135 a0001c0001t0001g0001 a0001c0001t0001g0135	4	180	0.0222	27	c.-38 others(38): Show c.-3877_-3876insAAAAAAAAAAAAAAAAAAAAAAAAAAA	EXOSC1	ENSG00000171311.13	transcript	ENST00000370902.8	protein_coding		3856		chr10	TogoVar
EXPH5_chr11_108500435_108598768	108532366	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0101 a0008c0009t0001g0101	1	258	0.0039	27	c.444 others(44): Show c.444-4183_444-4182insAAAAATATATATATATATATATATATA	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108532367	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	242	0.0041	27	c.444 others(44): Show c.444-4184_444-4183insTATATATATATATATATATATATATAT	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5			chr11	TogoVar
EXT1_chr8_117789490_118116826	117827784	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0088 a0001c0001t0055g0088	1	70	0.0143	27	c.128 others(46): Show c.1284+2419_1284+2445dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	4/10			chr8	TogoVar
EXTL1_chr1_26016775_26041464	26027693	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0071 a0002c0002t0003g0071	1	335	0.0030	27	c.780 others(44): Show c.780-1485_780-1484insAAAAAAAAAAAGAAAAAAAAAAAAAAA	EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EYA2_chr20_46889843_47193844	46986403	G G	GATCTATA others(20): Show GATCTATATATCTATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	148	0.0068	27	c.-10 others(44): Show c.-10-3589_-10-3588insTCTATATATAATATATAAATCTATATA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYA2_chr20_46889843_47193844	47182628	T T	TCAAAAAA others(20): Show TCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18906.hp1 NA19240.hp2 HG03516.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0131 a0001c0002t0001g0236 a0001c0002t0001g0033 a0001c0002t0001g0131 a0001c0002t0001g0236	3	70	0.0429	27	c.143 others(44): Show c.1436-663_1436-662insCAAAAAAAAAAAAAAAAAAAAAAAAAA	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	14/15			chr20	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	98	0.0102	27	c.-68 others(46): Show c.-68-15034_-68-15033insATATATATATATATATATATATATAT A	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 NA18993.hp1 HG01256.hp2 HG01258.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0258 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0001g0258 a0001c0001t0003g0018 a0001c0001t0003g0019	3	100	0.0300	27	c.-68 others(46): Show c.-68-15034_-68-15033insAAAAATATATATATATATATATATAT A	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0375 a0001c0001t0004g0375	1	98	0.0102	27	c.-68 others(46): Show c.-68-15034_-68-15033insAAAAAAATATATATATATATATATAT A	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073128	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0365 a0001c0001t0004g0365	1	350	0.0029	27	c.-68 others(46): Show c.-68-15035_-68-15034insTATATATATATATATATATATATATA T	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYS_chr6_63714980_65712226	64864385	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0002 a0006c0017t0001g0002	1	2	0.5000	27	c.299 others(48): Show c.2992+22311_2992+22312insAAAAAAAAAAAAAAAAAAAAAAAA AAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	19/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65306832	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0017 a0009c0013t0001g0017	1	8	0.1250	27	c.176 others(48): Show c.1767-10740_1767-10714dupTTTTTTTTTTTTTTTTTTTTTTTT TTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	11/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65317825	C C	CCTTCCTT others(20): Show CCTTCCTTCCTTCCTTCCTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0001 a0004c0024t0001	a0004c0024t0001g0001 a0004c0024t0001g0001	1	12	0.0833	27	c.176 others(48): Show c.1766+17154_1766+17155insAAAGAAAGAAGGAAGGAAGGAAGG AAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	11/42			chr6	TogoVar
F13A1_chr6_6139084_6325662	6210347	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0070 a0006c0014t0002g0070	1	290	0.0034	27	c.111 others(48): Show c.1112+11685_1112+11686insATATATATATATATATATATATAT ATA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6210348	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	289	0.0035	27	c.111 others(48): Show c.1112+11684_1112+11685insTATATATATATATATATATATATA TAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14			chr6	TogoVar
F7_chr13_113100791_113125685	113105040	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG03540.hp1 others(4): Show HG02109.hp1 HG02622.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0001g0007 a0001c0001t0001g0070	7	77	0.0909	27	c.-80 others(36): Show c.-802_-801insAAAATATATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		750		chr13	TogoVar
FADS2_chr11_61823300_61872354	61824502	G G	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	129	0.0078	27	c.-38 others(38): Show c.-3889_-3888insAAAGAAAGAAAGAAAGAAAGAAAGAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding		3797		chr11	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG02004.hp2 others(8): Show HG00408.hp1 HG00438.hp1 HG02004.hp2 HG02015.hp1 HG02132.hp1 HG03688.hp1 NA18522.hp1 NA18950.hp1 NA18960.hp2 NA18982.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0071 others(8): Show a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0201 a0001c0001t0001g0202	11	119	0.0924	27	c.883 others(44): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAAAAAAAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FADS3_chr11_61868526_61896545	61877356	C C	CACATGTG others(20): Show CACATGTGAGCCACACTGTTGCACGCAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	416	0.0024	27	c.885 others(42): Show c.885+128_885+154dupATGCGTGCAACAGTGTGGCTCACATGT	FADS3	ENSG00000221968.9	transcript	ENST00000278829.7	protein_coding	7/11			chr11	TogoVar
FAF1_chr1_50432028_50965267	50457724	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	51	0.0196	27	c.187 others(48): Show c.1870-16202_1870-16201insTTTTTTTTTTTTTTTTTTTTTTTT TTT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	18/18			chr1	TogoVar
FAHD1_chr16_1822206_1833910	1830944	A A	ACACACAC others(20): Show ACACACACACACACACACCCCACCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01099.hp2 others(1): Show HG00438.hp2 HG00642.hp2 HG01099.hp2 HG01975.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0002 a0002c0005t0002 a0002c0003t0002 a0002c0005t0002	a0002c0003t0002g0000 a0002c0005t0002g0000 a0002c0003t0002g0000 a0002c0005t0002g0000	4	171	0.0234	27	c.30 others(38): Show c.3040_*3041insCACACACACACACACACCCCACCCACC	FAHD1	ENSG00000180185.13	transcript	ENST00000427358.5	protein_coding		2035		chr16	TogoVar
FAHD1_chr16_1822206_1833910	1830944	A A	ACACACAC others(20): Show ACACACACACACACACACCCCACTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0000 a0002c0003t0002g0000	1	168	0.0060	27	c.30 others(38): Show c.3040_*3041insCACACACACACACACACCCCACTCACC	FAHD1	ENSG00000180185.13	transcript	ENST00000427358.5	protein_coding		2035		chr16	TogoVar
FAM107B_chr10_14513557_14779897	14628112	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20129.hp1 HG03139.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0009 a0001c0001t0001g0010	2	89	0.0225	27	c.469 others(46): Show c.469+39521_469+39522insAAAAAAAAAAAAAAAAAAAAAAAAAA A	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FAM107B_chr10_14513557_14779897	14737800	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0264 a0002c0002t0003g0264	1	266	0.0038	27	c.411 others(46): Show c.411+36452_411+36453insAGAGAGAGAGAGAGAGAGAGAGAGAG A	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	1/4			chr10	TogoVar

Search by Variant

Search

Search Results