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
HOMER1_chr5_79367636_79519134	79368112	C C	CCGAGTAG others(19): Show CCGAGTAGCTGGGATTGTAGGGGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(44): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00558.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01167.hp1 HG01175.hp1 HG01261.hp2 HG01361.hp1 HG02004.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02735.hp1 HG02809.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 NA18952.hp2 NA18985.hp2 NA19080.hp2 NA19082.hp2 NA19240.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0030 a0001c0001t0042 a0001c0001t0043 a0001c0003t0028	a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 others(44): Show a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0150 a0001c0001t0005g0152 a0001c0001t0005g0169 a0001c0001t0005g0172 a0001c0001t0005g0206 a0001c0001t0005g0208 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0251 a0001c0001t0005g0263 a0001c0001t0006g0050 a0001c0001t0006g0055 a0001c0001t0008g0103 a0001c0001t0008g0108 a0001c0001t0008g0135 a0001c0001t0008g0182 a0001c0001t0008g0183 a0001c0001t0008g0186 a0001c0001t0008g0199 a0001c0001t0008g0232 a0001c0001t0008g0237 a0001c0001t0008g0238 a0001c0001t0008g0243 a0001c0001t0010g0143 a0001c0001t0010g0245 a0001c0001t0010g0268 a0001c0001t0011g0059 a0001c0001t0011g0068 a0001c0001t0014g0157 a0001c0001t0014g0230 a0001c0001t0014g0244 a0001c0001t0018g0053 a0001c0001t0018g0069 a0001c0001t0020g0209 a0001c0001t0020g0233 a0001c0001t0025g0066 a0001c0001t0030g0078 a0001c0001t0042g0283 a0001c0001t0043g0287 a0001c0003t0028g0077	47	290	0.1621	26	c.78 others(37): Show c.7896_*7897insTGGGCCCCTACAATCCCAGCTACTCG	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding		4523		chr5	TogoVar
HOMER2_chr15_82843983_82957720	82860956	T T	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01257.hp2 HG01934.hp1 others(5): Show HG01099.hp1 HG01257.hp2 HG01934.hp1 HG01943.hp2 HG02145.hp1 HG02630.hp2 HG02976.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0136 a0001c0001t0001g0147 others(5): Show a0001c0001t0001g0067 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0310 a0001c0001t0001g0322	8	348	0.0230	26	c.388 others(43): Show c.388-1847_388-1822dupTCTCTCTCTCTCTCTCTCTCTCTCTC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868521	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03927.hp2 HG04115.hp1 HG02698.hp1 HG03927.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0002g0326 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0002g0326	3	348	0.0086	26	c.295 others(43): Show c.295-4263_295-4262insTATATATATATATATATATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868523	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02735.hp2 HG03486.hp2 others(2): Show HG02015.hp2 HG02735.hp2 HG03486.hp2 NA18941.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0199 a0001c0001t0001g0251 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0199 a0001c0001t0001g0251 a0001c0001t0001g0274 a0001c0001t0001g0332	5	348	0.0144	26	c.295 others(43): Show c.295-4265_295-4264insTATATATATATATATATATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	348	0.0029	26	c.295 others(43): Show c.295-4283_295-4282insAAAAAATATATATATATATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82928940	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01261.hp1 HG01928.hp1 others(1): Show HG00609.hp1 HG01261.hp1 HG01928.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0001g0158 a0001c0001t0001g0238 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0158 a0001c0001t0001g0238 a0001c0001t0002g0231	4	348	0.0115	26	c.5+2 others(41): Show c.5+23590_5+23591insTTTTTTTTTTTTTTTTTTTTTTTTTT	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	1/8			chr15	TogoVar
HOMER3_chr19_18924203_18946217	18926200	A A	AGCATCTC others(19): Show AGCATCTCCAGGACCCCTGAGCTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	412	0.0024	26	c.32 others(37): Show c.3217_*3242dupACACAGCTCAGGGGTCCTGGAGATGC	HOMER3	ENSG00000051128.19	transcript	ENST00000392351.8	protein_coding		3002		chr19	TogoVar
HOOK3_chr8_42891978_43035535	42903350	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG02451.hp1 HG02895.hp1 HG02897.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0019 a0001c0002t0007g0020 a0001c0002t0007g0021 others(1): Show a0001c0002t0007g0019 a0001c0002t0007g0020 a0001c0002t0007g0021 a0001c0002t0007g0022	4	162	0.0247	26	c.58- others(41): Show c.58-2811_58-2810insTTTTTTTTTTTTTCTTTTTTTTTTTT	HOOK3	ENSG00000168172.9	transcript	ENST00000307602.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
HORMAD2_chr22_30075464_30182075	30088159	G G	GTATACCT others(19): Show GTATACCTATGTATACATATATACATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	350	0.0029	26	c.-37 others(43): Show c.-37-5725_-37-5700dupCTATGTATACATATATACATATATAC	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30088166	T T	TATGTATA others(19): Show TATGTATACATATATACATATATACCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG02055.hp1 others(1): Show HG01496.hp2 HG01891.hp2 HG02055.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0152	4	350	0.0114	26	c.-37 others(43): Show c.-37-5725_-37-5724insCATGTATACATATATACATATATACC	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30125216	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	350	0.0029	26	c.819 others(43): Show c.819+3003_819+3028dupTTTTTTTTTTTTTTTTTTTTTTTTTT	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXA13_chr7_27189364_27205091	27202822	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG03927.hp1 NA19057.hp2 HG01175.hp1 HG03927.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	416	0.0072	26	c.-27 others(37): Show c.-2746_-2745insTTTTTTTTTTTTTTTTTTTTTTTTTT	HOXA13	ENSG00000106031.9	transcript	ENST00000649031.1	protein_coding		2732		chr7	TogoVar
HOXA3_chr7_27102010_27157583	27111485	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	326	0.0031	26	c.-12 others(43): Show c.-120-751_-120-726dupACACACACACACACACACACACACAC	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03098.hp1 NA18999.hp2 others(1): Show HG01934.hp2 HG03098.hp1 NA18999.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0209 a0001c0001t0002g0257 a0001c0001t0002g0270 others(1): Show a0001c0001t0002g0209 a0001c0001t0002g0257 a0001c0001t0002g0270 a0001c0001t0013g0022	4	326	0.0123	26	c.-39 others(41): Show c.-390+56_-390+81dupCTCTCTCTCTCTCTCTCTCTCTCTCT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG03098.hp2 NA18999.hp1 others(1): Show HG01934.hp1 HG03098.hp2 NA18999.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0003g0003 a0001c0001t0004g0006 a0001c0001t0005g0021 a0001c0001t0003g0003 a0001c0001t0004g0006 a0001c0001t0005g0021	4	398	0.0101	26	c.18 others(37): Show c.1808_*1833dupCTCTCTCTCTCTCTCTCTCTCTCTCT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HOXB3_chr17_48543870_48595241	48561183	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19080.hp2 HG00423.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0059 a0001c0001t0009g0046 a0001c0001t0001g0059 a0001c0001t0009g0046	2	374	0.0054	26	c.-24 others(45): Show c.-246-5591_-246-5566dupGTGTGTGTGTGTGTGTGTGTGTGTGT	HOXB3	ENSG00000120093.12	transcript	ENST00000498678.6	protein_coding	2/4			chr17	TogoVar
HOXC4_chr12_54048835_54061030	54058950	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01934.hp2 HG03654.hp1 others(3): Show HG00597.hp1 HG01934.hp2 HG03654.hp1 NA18985.hp1 NA19000.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	6	400	0.0150	26	c.37 others(37): Show c.3745_*3746insGTGTGTGTGTGTGTGTGTGTGTGTGT	HOXC4	ENSG00000198353.8	transcript	ENST00000430889.3	protein_coding		2921		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014003	T T	TCTTCTCT others(19): Show TCTTCTCTTCTCTTCTCTTCTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01192.hp2 others(1): Show HG00323.hp1 HG00642.hp1 HG01192.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0039 a0001c0001t0001 a0001c0001t0007 a0001c0001t0039	a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0001t0039g0001 a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0001t0039g0001	4	306	0.0131	26	c.26 others(37): Show c.2622_*2623insCTTCTCTTCTCTTCTCTTCTCTTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1235		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014004	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	306	0.0033	26	c.26 others(37): Show c.2623_*2624insTCTCTCTCTCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1236		chr12	TogoVar
HOXD10_chr2_176111778_176124937	176119435	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0004 a0001c0001t0055g0004	1	428	0.0023	26	c.20 others(35): Show c.209_*234dupTATATATATATATATATATATATATA	HOXD10	ENSG00000128710.6	transcript	ENST00000249501.5	protein_coding	2/2	235	INFO_REALIGN_3_PRIME	chr2	TogoVar
HOXD9_chr2_176117719_176129937	176119435	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	404	0.0025	26	c.-33 others(37): Show c.-3334_-3333insTATATATATATATATATATATATATA	HOXD9	ENSG00000128709.13	transcript	ENST00000249499.8	protein_coding		3283		chr2	TogoVar
HP1BP3_chr1_20735266_20792307	20746186	A A	ATATGTGT others(19): Show ATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	378	0.0027	26	c.125 others(43): Show c.1254-531_1254-530insCACACACACACACACACACACACATA	HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	11/12			chr1	TogoVar
HPCAL4_chr1_39673648_39696433	39684299	G G	GCACCCCG others(19): Show GCACCCCGGGTGCCTCGCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0103 a0001c0003t0003g0103	1	420	0.0024	26	c.162 others(41): Show c.162+117_162+142dupGGAGGGGAGGCGAGGCACCCGGGGTG	HPCAL4	ENSG00000116983.13	transcript	ENST00000372844.8	protein_coding	2/3			chr1	TogoVar
HPN_chr19_35036721_35071573	35048082	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAAAAGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01258.hp1 HG01361.hp1 others(7): Show HG00741.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG02165.hp1 NA18983.hp1 NA18983.hp2 NA19054.hp2 NA19080.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0097 others(7): Show a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0224 a0001c0001t0001g0253 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0322	10	384	0.0260	26	c.17- others(41): Show c.17-1207_17-1206insGAAAGAAAGAAAGAAAGAAAAAAGGA	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPSE2_chr10_98452077_99240852	98512812	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0021 a0002c0002t0010g0021	1	142	0.0070	26	c.132 others(47): Show c.1321-22642_1321-22617dupGTGTGTGTGTGTGTGTGTGTGTGT GT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98580836	A A	ATATATAT others(19): Show ATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp2 NA21309.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0003 a0006c0006t0001 a0001c0001t0003 a0006c0006t0001	a0001c0001t0003g0125 a0006c0006t0001g0085 a0001c0001t0003g0125 a0006c0006t0001g0085	2	142	0.0141	26	c.132 others(47): Show c.1320+34067_1320+34068insCACACACACACACATATATATATA TA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(19): Show TATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	142	0.0070	26	c.611 others(43): Show c.611-5892_611-5891insGTGTGTGTGTGTGTATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG04184.hp1 others(1): Show HG00597.hp2 HG00639.hp1 HG04184.hp1 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0029 a0002c0002t0002 a0001c0001t0001 a0001c0001t0029 a0002c0002t0002	a0001c0001t0001g0034 a0001c0001t0029g0083 a0002c0002t0002g0121 others(1): Show a0001c0001t0001g0034 a0001c0001t0029g0083 a0002c0002t0002g0121 a0002c0002t0002g0123	4	142	0.0282	26	c.611 others(43): Show c.611-5892_611-5891insGTGTGTGTATATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	142	0.0070	26	c.611 others(43): Show c.611-5892_611-5891insGTGTGTATATATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	142	0.0070	26	c.611 others(43): Show c.611-5892_611-5891insGTGTATATATATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98749947	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02809.hp2 HG03130.hp2 HG02129.hp1 HG02809.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0009 a0002c0002t0002 a0001c0001t0006 a0001c0001t0009 a0002c0002t0002	a0001c0001t0006g0008 a0001c0001t0009g0103 a0002c0002t0002g0037 a0001c0001t0006g0008 a0001c0001t0009g0103 a0002c0002t0002g0037	3	142	0.0211	26	c.611 others(43): Show c.611-5892_611-5891insGTATATATATATATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98778264	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	142	0.0070	26	c.611 others(45): Show c.611-34234_611-34209dupCTCTCTCTCTCTCTCTCTCTCTCTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132191	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0073 a0003c0003t0001g0073	1	142	0.0070	26	c.610 others(45): Show c.610+12046_610+12047insCTTTCTCTCTCTCTTTCTTTCTTTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132241	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18968.hp1 HG00423.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0071 a0001c0001t0003g0135 a0001c0001t0001g0071 a0001c0001t0003g0135	2	142	0.0141	26	c.610 others(45): Show c.610+11996_610+11997insTTCTTTCTTTCTTTCTTTCTTTCTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132241	G G	GAGAGAAA others(19): Show GAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0099 a0002c0002t0021g0099	1	142	0.0070	26	c.610 others(45): Show c.610+11996_610+11997insTTCTTTCTTTCTTTCTTTCTTTCTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99184819	T T	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	142	0.0070	26	c.449 others(45): Show c.449-40421_449-40420insCTCTCTCTCTCTATATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HRAS_chr11_527242_540576	530696	G G	GGCCAGTG others(19): Show GGCCAGTGTGGCGTCCCCTGGAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00741.hp2 others(11): Show HG00099.hp1 HG00639.hp1 HG00741.hp2 HG01099.hp2 HG01175.hp1 HG01258.hp1 HG01346.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0013 a0001c0002t0003g0007 a0001c0002t0003g0043 a0001c0002t0001g0013 a0001c0002t0003g0007 a0001c0002t0003g0043	14	397	0.0353	26	c.18 others(37): Show c.1831_*1832insTTCTCTCCAGGGGACGCCACACTGGC	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1545		chr11	TogoVar
HRH3_chr20_62209960_62225278	62213500	G G	GGTGGGGG others(19): Show GGTGGGGGAAGGAGAGTGGGGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	368	0.0027	26	c.25 others(37): Show c.2505_*2506insACCCATCCCCACTCTCCTTCCCCCAC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1459		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213737	G G	GGGGGGGA others(19): Show GGGGGGGAAGGAGAGTGGGGATGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG01243.hp2 others(17): Show HG00738.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG02055.hp1 HG02071.hp2 HG02273.hp2 HG02559.hp1 HG02717.hp2 HG02818.hp2 HG02965.hp2 HG03130.hp1 HG03453.hp1 HG03540.hp1 NA18522.hp1 NA18747.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18973.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0018 a0001c0001 a0001c0002 a0007c0018	a0001c0001t0001 a0001c0002t0001 a0007c0018t0001 a0001c0001t0001 a0001c0002t0001 a0007c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0002t0001g0002 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0059 a0007c0018t0001g0049	20	368	0.0544	26	c.22 others(37): Show c.2268_*2269insAACCCATCCCCACTCTCCTTCCCCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1222		chr20	TogoVar
HS2ST1_chr1_86909635_87114982	86976704	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02698.hp2 HG02895.hp1 others(2): Show HG02145.hp1 HG02698.hp2 HG02895.hp1 HG02897.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0072 a0001c0001t0001g0090 a0001c0001t0001g0100 others(2): Show a0001c0001t0001g0072 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0018g0103 a0001c0001t0018g0104	5	154	0.0325	26	c.124 others(45): Show c.124+61561_124+61562insATATATATATATATATATATATATAT	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	87018132	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	154	0.0065	26	c.125 others(45): Show c.125-54795_125-54770dupCACACACACACACACACACACACACA	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST1_chr4_11388150_11433894	11429643	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG03239.hp1 HG01074.hp2 HG01167.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0001 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0222 a0001c0001t0007g0253 a0001c0001t0012g0320 a0001c0001t0001g0222 a0001c0001t0007g0253 a0001c0001t0012g0320	3	440	0.0068	26	c.-10 others(37): Show c.-1054_-1053insAAAAAAAAAAAAAAAAAAAAAAAAAA	HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding		750		chr4	TogoVar
HS3ST2_chr16_22809162_22921338	22918377	G G	GGTGTGTG others(19): Show GGTGTGTGTATGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0021	1	350	0.0029	26	c.28 others(37): Show c.2815_*2816insGTGTGTGTATGTGTGTGTGTGTGTGT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding		2040		chr16	TogoVar
HS3ST3A1_chr17_13489032_13606929	13585186	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18945.hp2 HG04184.hp1 NA18945.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0282 a0002c0003t0007g0292 a0002c0003t0007g0282 a0002c0003t0007g0292	2	338	0.0059	26	c.599 others(45): Show c.599+15319_599+15344dupAAAAAAAAAAAAAAAAAAAAAAAAAA	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329364	A A	AAGGAAGG others(19): Show AAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02148.hp2 NA19068.hp1 HG01981.hp2 HG02148.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0047 a0001c0001t0061 a0001c0002t0001 a0001c0001t0047 a0001c0001t0061 a0001c0002t0001	a0001c0001t0047g0147 a0001c0001t0061g0323 a0001c0002t0001g0271 a0001c0001t0047g0147 a0001c0001t0061g0323 a0001c0002t0001g0271	3	432	0.0069	26	c.555 others(45): Show c.555-15664_555-15663insAGGAAGGAAGGAAGGAAGGAAGGAAG	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1			chr17	TogoVar
HS3ST4_chr16_25686959_26142685	26054269	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	164	0.0061	26	c.735 others(45): Show c.735-81338_735-81313dupGAGAGAGAGAGAGAGAGAGAGAGAGA	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS6ST2_chrX_132621015_132963629	132811685	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	201	0.0050	26	c.948 others(47): Show c.948-103217_948-103192dupATATATATATATATATATATATAT AT	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
HS6ST2_chrX_132621015_132963629	132829199	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01515.hp1 others(2): Show HG00280.hp1 HG00738.hp1 HG01515.hp1 HG01517.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0051 a0001c0001t0003g0089 a0001c0001t0004g0033 others(2): Show a0001c0001t0002g0051 a0001c0001t0003g0089 a0001c0001t0004g0033 a0001c0001t0004g0048 a0001c0001t0004g0049	5	201	0.0249	26	c.948 others(47): Show c.948-120706_948-120705insGTGTATATATATATATATATATAT AT	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96112578	A A	AATATACA others(19): Show AATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19090.hp2 NA18999.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0045 a0001c0001t0003g0099 a0001c0001t0002g0045 a0001c0001t0003g0099	2	116	0.0172	26	c.707 others(45): Show c.707+21014_707+21015insCATATATATATATATATATATATATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96304711	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	116	0.0086	26	c.707 others(47): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT TT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar

Search by Variant

Search

Search Results