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
KCNH5_chr14_62694464_63050458	62853458	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATCATATATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	224	0.0045	52	c.137 others(71): Show c.1370-3607_1370-3606insCATATATATATATATATATATATGAT ATATATATATATATATATATATATAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNIP1_chr5_170499020_170741632	170592444	T T	TTTTGTCA others(45): Show TTTTGTCATGTATTGAAACATGATGTATTGAAACATCATGTATTGAAAGC TGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG02040.hp2 others(34): Show HG00621.hp1 HG01109.hp1 HG02040.hp2 HG02055.hp2 HG02132.hp2 HG02145.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA18950.hp1 NA18961.hp1 NA19002.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022	a0001c0001t0001g0007 a0001c0001t0001g0123 a0001c0001t0001g0128 others(34): Show a0001c0001t0001g0007 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0127 a0001c0001t0002g0176 a0001c0001t0002g0199 a0001c0001t0002g0212 a0001c0001t0002g0216 a0001c0001t0003g0098 a0001c0001t0003g0111 a0001c0001t0003g0119 a0001c0001t0003g0138 a0001c0001t0003g0155 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0210 a0001c0001t0004g0036 a0001c0001t0004g0112 a0001c0001t0005g0028 a0001c0001t0006g0144 a0001c0001t0006g0147 a0001c0001t0006g0208 a0001c0001t0006g0211 a0001c0001t0009g0002 a0001c0001t0014g0014 a0001c0001t0019g0035 a0001c0001t0022g0100	37	218	0.1697	52	c.61+ others(69): Show c.61+87812_61+87813insTTGTCATGTATTGAAACATGATGTATTG AAACATCATGTATTGAAAGCTGAT	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNJ10_chr1_160032467_160075160	160049673	A A	ATTTATAT others(45): Show ATTTATATATATATATATATATATATATATATATATATATATATATATAT ATT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	408	0.0025	52	c.1-7 others(65): Show c.1-7142_1-7141insAATATATATATATATATATATATATATATATA TATATATATATATATATAAA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049675	T T	TTATATAT others(45): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT TTA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0230 a0001c0001t0004g0230	1	408	0.0025	52	c.1-7 others(65): Show c.1-7144_1-7143insTAAATATATATATATATATATATATATATATA TATATATATATATATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049675	T T	TTATATAT others(45): Show TTATATATATATATATATATATATATATATATATATATATATATATATTT TTA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0228 a0001c0001t0009g0228	1	408	0.0025	52	c.1-7 others(65): Show c.1-7144_1-7143insTAAAAATATATATATATATATATATATATATA TATATATATATATATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNJ6_chr21_37602373_37921457	37616587	G G	GTACATAT others(45): Show GTACATATATATATATATATATATATATATATATATATATATATATATAT ACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0190 a0001c0001t0190	a0001c0001t0190g0198 a0001c0001t0190g0198	1	198	0.0051	52	c.85 others(63): Show c.8571_*8572insTGTATATATATATATATATATATATATATATATA TATATATATATATATGTA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8571		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(45): Show CATATATATATATATATATATATATATATATATATATATATATATACATA TAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01978.hp2 NA19001.hp2 HG01978.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0083 a0001c0001t0049 a0001c0001t0083	a0001c0001t0049g0030 a0001c0001t0083g0010 a0001c0001t0049g0030 a0001c0001t0083g0010	2	198	0.0101	52	c.85 others(63): Show c.8568_*8569insATATATGTATATATATATATATATATATATATAT ATATATATATATATATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(45): Show CATATATATATATATATATATATATATATATATATATATATATATATACA CAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0060 a0001c0001t0053g0060	1	198	0.0051	52	c.85 others(63): Show c.8568_*8569insATGTGTATATATATATATATATATATATATATAT ATATATATATATATATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(45): Show CATATATATATATATATATATATATATATATATATATATATATATATATA CAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0173 a0001c0001t0052g0173	1	198	0.0051	52	c.85 others(63): Show c.8568_*8569insATGTATATATATATATATATATATATATATATAT ATATATATATATATATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37677787	T T	TCCATCCA others(45): Show TCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATC CAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01168.hp1 HG01978.hp1 others(1): Show HG00735.hp1 HG01168.hp1 HG01978.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0105 a0001c0001t0106 others(1): Show a0001c0001t0088 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107	a0001c0001t0088g0055 a0001c0001t0105g0084 a0001c0001t0106g0092 others(1): Show a0001c0001t0088g0055 a0001c0001t0105g0084 a0001c0001t0106g0092 a0001c0001t0107g0087	4	198	0.0202	52	c.946 others(71): Show c.946+36423_946+36424insGTGGATGGATGGGTGGGTGGGTGGGT GGATGGATGGATGGATGGATGGATGG	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK2_chr1_215077737_215242090	215209640	A A	AACATATA others(45): Show AACATATATAATATATATAAATATATATTATATATAACATATATAATATA TAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0172 a0001c0002t0018g0172	1	260	0.0039	52	c.963 others(71): Show c.963+14549_963+14550insCATATATAATATATATAAATATATAT TATATATAACATATATAATATATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209789	T T	TATATATA others(45): Show TATATATAAATATATAATATATATAAATATATATTATATATAAAATATAT ATC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0072 a0001c0002t0072	a0001c0002t0072g0247 a0001c0002t0072g0247	1	260	0.0039	52	c.963 others(71): Show c.963+14706_963+14707insTATATAATATATATAAATATATATTA TATATAAAATATATATCATATATAAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209814	A A	AAATATAT others(45): Show AAATATATATTATATATAAAATATATATCATATATAAAATATATAATATA TAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	260	0.0039	52	c.963 others(71): Show c.963+14749_963+14750insCATATATAAAATATATAATATATATA ATATATATTATATATAAAATATATAT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK6_chr19_38314845_38337076	38328878	G G	GAGAAAGA others(45): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG03834.hp1 HG04115.hp1 HG01099.hp1 HG03834.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0053 a0002c0002t0026 a0002c0002t0053	a0002c0002t0026g0002 a0002c0002t0053g0002 a0002c0002t0026g0002 a0002c0002t0053g0002	3	398	0.0075	52	c.14 others(63): Show c.1497_*1498insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAG	KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding	3/3	1498	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNK6_chr19_38314845_38337076	38328878	G G	GAGAGAGA others(45): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0075 a0001c0005t0075	a0001c0005t0075g0053 a0001c0005t0075g0053	1	398	0.0025	52	c.14 others(63): Show c.1478_*1479insGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA	KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding	3/3	1479	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNK9_chr8_139612121_139708123	139687575	T T	TATATGTA others(45): Show TATATGTATACATATATTCATATATATGTATACATATATATTCATATGTA TAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0121 a0001c0002t0001g0121	1	322	0.0031	52	c.283 others(71): Show c.283+15134_283+15135insGTATACATATGAATATATATGTATAC ATATATATGAATATATGTATACATAT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNMA1_chr10_76879882_77642808	76969287	A A	AAGGAAGG others(45): Show AAGGAAGGAAGAAGGGAAGGAAGGAAGGAGGGAAGGAAGGAAGGAAGGAA GGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18747.hp2 HG02559.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0002g0078 a0001c0001t0001g0038 a0001c0001t0002g0078	2	106	0.0189	52	c.236 others(69): Show c.2360+686_2360+687insCCCTTCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTTCTTCCTTCCT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	20/27			chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178758141	T T	TATATATA others(45): Show TATATATATATATAAATCCAAGAGGATATATATATATATATATATCCAAG GGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	232	0.0043	52	c.-67 others(71): Show c.-67-49189_-67-49188insAATCCAAGAGGATATATATATATATA TATATCCAAGGGGATATATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758353	T T	TATATATA others(45): Show TATATATATATCTCCAAGGGGATATATATATATATATATATATCTCCAAG GGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	232	0.0043	52	c.-67 others(71): Show c.-67-48980_-67-48979insCTCCAAGGGGATATATATATATATAT ATATATCTCCAAGGGGATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758393	T T	TATATATA others(45): Show TATATATATATATATCCAAGGGGATATATATATATATATATATCTCCAAG GGG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	232	0.0043	52	c.-67 others(71): Show c.-67-48936_-67-48935insCCAAGGGGATATATATATATATATAT ATCTCCAAGGGGATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758397	T T	TATATATA others(45): Show TATATATATCTCCAAGGGGATATATATATATATATATATATCTCCAAGAG GGG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	232	0.0043	52	c.-67 others(71): Show c.-67-48938_-67-48937insCTCCAAGGGGATATATATATATATAT ATATATCTCCAAGAGGGGATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758537	T T	TACACACA others(45): Show TACACACACAAGAGGTGATATATATACATATATATATCTCCAAGAGGTGA TTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01261.hp2 HG01884.hp2 others(2): Show HG01192.hp1 HG01261.hp2 HG01884.hp2 HG02647.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0215 others(2): Show a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0002t0001g0148	5	232	0.0216	52	c.-67 others(71): Show c.-67-48805_-67-48804insCACACACAAGAGGTGATATATATACA TATATATATCTCCAAGAGGTGATTGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758782	T T	TATATATA others(45): Show TATATATATATCCAAGGGGATATATATATATATATATATATATCTCCAAG GGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0226 a0001c0002t0001g0226	1	232	0.0043	52	c.-67 others(71): Show c.-67-48551_-67-48550insCCAAGGGGATATATATATATATATAT ATATATCTCCAAGGGGATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178817218	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01943.hp1 HG01952.hp2 others(4): Show HG01891.hp1 HG01943.hp1 HG01952.hp2 HG03491.hp1 HG03492.hp1 NA18960.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0082 a0001c0001t0002g0170 a0001c0001t0003g0024 others(4): Show a0001c0001t0002g0082 a0001c0001t0002g0170 a0001c0001t0003g0024 a0001c0001t0003g0058 a0001c0001t0003g0145 a0001c0001t0003g0230 a0001c0001t0003g0231	7	232	0.0302	52	c.57- others(67): Show c.57-8361_57-8360insTATATATATATATATATATATATATATATA TATATATATATACATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114373640	T T	TTATATAT others(45): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01433.hp1 HG02109.hp2 others(5): Show HG01070.hp1 HG01433.hp1 HG02109.hp2 HG03704.hp1 HG03831.hp1 NA19000.hp1 NA19060.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0012 a0001c0001 a0002c0002 a0004c0012	a0001c0001t0001 a0002c0002t0001 a0004c0012t0001 a0001c0001t0001 a0002c0002t0001 a0004c0012t0001	a0001c0001t0001g0050 a0002c0002t0001g0116 a0002c0002t0001g0136 others(5): Show a0001c0001t0001g0050 a0002c0002t0001g0116 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0004c0012t0001g0143	8	250	0.0320	52	c.121 others(71): Show c.1218+9657_1218+9658insTATATATATATATATATATATATATA TATATATATATATATATATATATATA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114373640	T T	TTTTATAT others(45): Show TTTTATATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0196 a0003c0003t0001g0196	1	250	0.0040	52	c.121 others(71): Show c.1218+9640_1218+9641insTTATATATATATATATATATATATAT ATATATATATATATATATATATATAT	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNQ1_chr11_2440008_2854105	2733814	A A	ACACACAC others(45): Show ACACACACACACACACACACTCACACACTCTCTCTCTCTCACTCTCTCTC TCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0198 a0001c0001t0005g0198	1	208	0.0048	52	c.151 others(73): Show c.1515-35029_1515-35028insACACACACACACACACACTCACAC ACTCTCTCTCTCTCACTCTCTCTCTCTC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ3_chr8_132115861_132486095	132200387	C C	CTCTCTAT others(45): Show CTCTCTATTATATATATATATATATTATATTATATATATATATATATATA TTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0092 a0001c0001t0024g0092	1	176	0.0057	52	c.387 others(71): Show c.387-14207_387-14206insTAATATATATATATATATATATAATA TAATATATATATATATATAATAGAGA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ5_chr6_72617064_73203853	72852640	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0058 a0001c0002t0020g0058	1	80	0.0125	52	c.399 others(73): Show c.399-151247_399-151246insTATATATATATATATATATATATA TATATATATATATATATATATATATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT2_chr1_196220779_196613440	196342424	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATGTATATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	136	0.0074	52	c.140 others(69): Show c.1404-197_1404-196insCATATATATATATATATATATACATATA TATATATATATATATATATATATA	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	14/27			chr1	TogoVar
KDM4C_chr9_6752973_7180648	6919223	C C	CTTTCTTT others(45): Show CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTT TCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp2 NA20129.hp2 NA18906.hp1 NA18906.hp2 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0002 a0001c0002t0002 a0006c0009t0003 a0001c0001t0002 a0001c0002t0002 a0006c0009t0003	a0001c0001t0002g0155 a0001c0002t0002g0121 a0006c0009t0003g0257 a0001c0001t0002g0155 a0001c0002t0002g0121 a0006c0009t0003g0257	3	266	0.0113	52	c.921 others(71): Show c.921+25993_921+25994insTCTTTCTTTCTTTTTCTTTCTTTCTT TCTTTCTTTCTTTTCTTTCTTTCTTT	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KDM7A_chr7_140079746_140181983	140100713	T T	TATATATA others(45): Show TATATATATATATATATATACACATATATATATATATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	344	0.0029	52	c.163 others(69): Show c.1639-691_1639-690insGTGTATATATATATATATATATATATAT ATGTGTATATATATATATATATAT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KDM7A_chr7_140079746_140181983	140100715	T T	TATATATA others(45): Show TATATATATATATATATATATATACACACATATATATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	344	0.0029	52	c.163 others(69): Show c.1639-693_1639-692insGTGTATATATATATATATATATATGTGT GTATATATATATATATATATATAT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar
KHDRBS2_chr6_61674961_62291225	61954349	A A	ATATGCAT others(45): Show ATATGCATGCATACATATATACGTATGTATGCATGCATACATATATACGT ATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG02523.hp2 others(5): Show HG00738.hp1 HG01099.hp2 HG02523.hp2 HG02886.hp1 HG02922.hp2 HG03927.hp1 NA18962.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0004 a0001c0003t0002 a0001c0004t0001 a0001c0002t0004 a0001c0003t0002 a0001c0004t0001	a0001c0002t0004g0190 a0001c0002t0004g0205 a0001c0002t0004g0208 others(5): Show a0001c0002t0004g0190 a0001c0002t0004g0205 a0001c0002t0004g0208 a0001c0002t0004g0213 a0001c0002t0004g0215 a0001c0003t0002g0015 a0001c0003t0002g0098 a0001c0004t0001g0110	8	244	0.0328	52	c.483 others(71): Show c.483+23716_483+23717insCATACGTATATATGTATGCATGCATA CATACGTATATATGTATGCATGCATA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KHDRBS2_chr6_61674961_62291225	61954354	T T	TATGCATA others(45): Show TATGCATACATATATACGTATGTATGCATGCATACATATATACGTATGTA TGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18612.hp1 NA18989.hp1 others(2): Show HG02922.hp1 NA18612.hp1 NA18989.hp1 NA19003.hp1 NA19086.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0002 a0005c0010t0005 a0001c0001t0002 a0005c0010t0005	a0001c0001t0002g0066 a0001c0001t0002g0088 a0001c0001t0002g0089 others(2): Show a0001c0001t0002g0066 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0104 a0005c0010t0005g0020	5	244	0.0205	52	c.483 others(71): Show c.483+23660_483+23711dupGCATACATACGTATATATGTATGCAT GCATACATACGTATATATGTATGCAT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KHSRP_chr19_6408102_6429811	6429164	A A	ATAATATA others(45): Show ATAATATATTATATGTTATATAGTATATATATATATTATATATATGTTAG TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	386	0.0026	52	c.-44 others(63): Show c.-4464_-4463insATACTAACATATATATAATATATATATATACTAT ATAACATATAATATATTA	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4354		chr19	TogoVar
KICS2_chr12_64186080_64227296	64205779	A A	AGGAAGGA others(45): Show AGGAAGGAAAAAGGGAAGGAAGGAAAAAGGGAAGGAAGGAAGGAAGGAAA AAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	408	0.0025	52	c.521 others(69): Show c.521+9898_521+9899insCTTTTTCCTTCCTTCCTTCCTTCCCTTT TTCCTTCCTTCCCTTTTTCCTTCC	KICS2	ENSG00000174206.13	transcript	ENST00000398055.8	protein_coding	2/2			chr12	TogoVar
KIF16B_chr20_16267104_16578448	16410056	T T	TATATATA others(45): Show TATATATATGTTGGTACATATATATATGTAGGTACATATATATATGTAGG TAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	250	0.0040	52	c.161 others(71): Show c.1613-3601_1613-3600insGTACCTACATATATATATGTACCTAC ATATATATATGTACCAACATATATAT	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	15/25			chr20	TogoVar
KIF16B_chr20_16267104_16578448	16410076	T T	TATATATA others(45): Show TATATATATGTAGGTACATATATATATGTAGGTACATATATATATGTTGG TAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	250	0.0040	52	c.161 others(71): Show c.1613-3621_1613-3620insGTACCAACATATATATATGTACCTAC ATATATATATGTACCTACATATATAT	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	15/25			chr20	TogoVar
KIF16B_chr20_16267104_16578448	16501260	C C	CACCAAGA others(45): Show CACCAAGAATTGAATTCTTGGTTCAATACCAAGAATTGAATTCTTGGTTC AAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01346.hp2 HG01884.hp2 others(9): Show HG00323.hp1 HG01346.hp2 HG01884.hp2 HG02451.hp1 HG02809.hp1 HG02976.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 NA18906.hp1 NA19030.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0004c0007 a0008c0019	a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 others(3): Show a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 a0003c0004t0001 a0004c0007t0001 a0008c0019t0003	a0001c0001t0002g0086 a0001c0001t0002g0094 a0001c0001t0002g0095 others(9): Show a0001c0001t0002g0086 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0003g0017 a0001c0001t0003g0168 a0001c0001t0003g0203 a0002c0003t0001g0192 a0002c0003t0001g0198 a0003c0004t0001g0089 a0003c0004t0001g0183 a0004c0007t0001g0093 a0008c0019t0003g0151	12	250	0.0480	52	c.117 others(71): Show c.1176+3060_1176+3111dupATTGAACCAAGAATTCAATTCTTGGT ATTGAACCAAGAATTCAATTCTTGGT	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	10/25			chr20	TogoVar
KIF17_chr1_20659014_20723007	20712606	A A	ATATTATA others(45): Show ATATTATATATATAGATAATATTATCTATATATATAATATAGATAATATT ATC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01516.hp1 HG04184.hp2 HG01074.hp1 HG01516.hp1 HG04184.hp2	a0001 a0021 a0032 a0001 a0021 a0032	a0001c0128 a0021c0130 a0032c0129 a0001c0128 a0021c0130 a0032c0129	a0001c0128t0001 a0021c0130t0001 a0032c0129t0001 a0001c0128t0001 a0021c0130t0001 a0032c0129t0001	a0001c0128t0001g0028 a0021c0130t0001g0030 a0032c0129t0001g0029 a0001c0128t0001g0028 a0021c0130t0001g0030 a0032c0129t0001g0029	3	414	0.0073	52	c.480 others(67): Show c.480+847_480+848insGATAATATTATCTATATTATATATATAGAT AATATTATCTATATATATAATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF1A_chr2_240708767_240825219	240780798	C C	CCACACAC others(45): Show CCACACACACACACACACACACACACACAGCTCCACACACACACACAGCT CCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03688.hp1 HG02055.hp1 HG03688.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0254 a0002c0001t0001g0283 a0002c0001t0001g0254 a0002c0001t0001g0283	2	330	0.0061	52	c.882 others(69): Show c.882+1740_882+1791dupTGGAGCTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGTGTGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240780830	C C	CCACACAC others(45): Show CCACACACACACAGCTCCACACACACACACACACACAGCTCCACACACAC ACA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0009 a0001c0017t0009	a0001c0017t0009g0165 a0001c0017t0009g0165	1	330	0.0030	52	c.882 others(69): Show c.882+1759_882+1760insTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240780934	A A	ACACAGCT others(45): Show ACACAGCTCCACACACACACACACACACAGCTCCACACACACACACACAG CTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0010 a0001c0004t0005g0010	1	330	0.0030	52	c.882 others(69): Show c.882+1655_882+1656insGAGCTGTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGTGTGTGTGGAGCTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	167997188	G G	GGTCGGGG others(45): Show GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG CGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03130.hp1 NA18522.hp1 HG02280.hp1 HG03130.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0048 a0005c0007t0020 a0001c0001t0048 a0005c0007t0020	a0001c0001t0048g0026 a0005c0007t0020g0025 a0005c0007t0020g0027 a0001c0001t0048g0026 a0005c0007t0020g0025 a0005c0007t0020g0027	3	375	0.0080	52	c.-22 others(63): Show c.-2281_-2280insGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		482		chr6	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0119 a0001c0001t0037g0119	1	160	0.0063	52	c.209 others(71): Show c.2099-5977_2099-5976insCTCTCTCTCTCTATATATATATATAT ATATATATATATATATATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03471.hp1 HG03516.hp2 HG00609.hp2 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0016 a0001c0001 a0001c0009 a0001c0016	a0001c0001t0064 a0001c0009t0051 a0001c0016t0045 a0001c0001t0064 a0001c0009t0051 a0001c0016t0045	a0001c0001t0064g0042 a0001c0009t0051g0090 a0001c0016t0045g0098 a0001c0001t0064g0042 a0001c0009t0051g0090 a0001c0016t0045g0098	3	160	0.0188	52	c.209 others(71): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATATATATATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	160	0.0063	52	c.209 others(71): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATATATATATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0027 a0001c0057t0027	a0001c0057t0027g0080 a0001c0057t0027g0080	1	160	0.0063	52	c.209 others(71): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATATATATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF27_chr9_83829099_83926432	83848070	G G	GATATATA others(45): Show GATATATATGATATATCATATATATGATATATATGATATATCATATATAT GAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	346	0.0029	52	c.355 others(71): Show c.3556+2028_3556+2029insATCATATATATGATATATCATATATA TCATATATATGATATATCATATATAT	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar

Search by Variant

Search

Search Results