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
PUDP_chrX_7043920_7153153	7106636	A A	ATAGAACT others(8): Show ATAGAACTACTACATC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	260	0.0039	15	c.62- others(28): Show c.62-799_62-798insGATGTAGTAGTTCTA	PUDP	ENSG00000130021.15	transcript	ENST00000381077.10	protein_coding	1/3			chrX	TogoVar
PUF60_chr8_143811344_143834315	143815721	T T	TGCCCCGC others(8): Show TGCCCCGCCGACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG02895.hp1 others(1): Show HG02280.hp1 HG02809.hp1 HG02895.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	4	397	0.0101	15	c.78 others(24): Show c.784_*798dupGGGTGTCGGCGGGGC	PUF60	ENSG00000179950.15	transcript	ENST00000526683.6	protein_coding		622		chr8	TogoVar
PUM1_chr1_30926506_31070717	30933485	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0332 a0001c0001t0025g0332	1	334	0.0030	15	c.343 others(32): Show c.3436-144_3436-143insTGTGTGTGTGTGTGT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	21/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30942191	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18947.hp1 NA19012.hp1 HG03041.hp2 NA18947.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0055 a0001c0001t0002g0070 a0001c0001t0012g0260 a0001c0001t0002g0055 a0001c0001t0002g0070 a0001c0001t0012g0260	3	334	0.0090	15	c.299 others(30): Show c.2995-69_2995-68insTATATATATATATAT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	18/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972269	A A	AAGGGGAG others(8): Show AAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	334	0.0030	15	c.150 others(34): Show c.1506+2381_1506+2382insCCCCTCCCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972274	A A	AAGGGGAG others(8): Show AAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	334	0.0030	15	c.150 others(34): Show c.1506+2376_1506+2377insCCCCTCCCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972279	A A	AAGGGGAG others(8): Show AAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	334	0.0030	15	c.150 others(34): Show c.1506+2371_1506+2372insCCCCTCCCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972284	A A	AAGGGGAG others(8): Show AAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01517.hp2 HG01167.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0093 a0001c0001t0009g0088 a0001c0001t0003g0093 a0001c0001t0009g0088	2	334	0.0060	15	c.150 others(34): Show c.1506+2352_1506+2366dupCCCCTCCCCTCCCCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30989571	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp2 HG03225.hp1 others(1): Show HG01069.hp1 HG02055.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0010 a0001c0005t0010 a0001c0002t0010 a0001c0005t0010	a0001c0002t0010g0032 a0001c0005t0010g0033 a0001c0005t0010g0034 others(1): Show a0001c0002t0010g0032 a0001c0005t0010g0033 a0001c0005t0010g0034 a0001c0005t0010g0174	4	334	0.0120	15	c.115 others(34): Show c.1158+2804_1158+2818dupTTTTTTTTTTTTTTT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	7/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0206 a0001c0002t0016g0206	1	334	0.0030	15	c.364 others(34): Show c.364-10121_364-10120insATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	334	0.0030	15	c.364 others(34): Show c.364-10121_364-10120insAAATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	334	0.0030	15	c.364 others(34): Show c.364-10121_364-10120insAAAAAAAAAAAAATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038985	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	334	0.0030	15	c.364 others(34): Show c.364-10122_364-10121insTATATATATATATAT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31063234	A A	ACCTGTTT others(8): Show ACCTGTTTCCTCATCT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0304 a0001c0002t0004g0304	1	334	0.0030	15	c.-12 others(32): Show c.-12+2367_-12+2381dupAGATGAGGAAACAGG	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	1/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20261394	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02965.hp1 HG00280.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0007g0172 a0001c0001t0001g0002 a0001c0001t0007g0172	2	358	0.0056	15	c.222 others(32): Show c.2226-943_2226-929dupTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	14/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20264363	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19083.hp2 HG01109.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0241 a0001c0001t0010g0351 a0001c0001t0003g0241 a0001c0001t0010g0351	2	358	0.0056	15	c.195 others(32): Show c.1958-904_1958-903insATATATATATATATA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20264365	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	358	0.0028	15	c.195 others(32): Show c.1958-906_1958-905insATATATATATATATA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19043.hp1 HG02572.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0236 a0001c0001t0005g0254 a0001c0001t0005g0236 a0001c0001t0005g0254	2	358	0.0056	15	c.195 others(32): Show c.1958-908_1958-907insATATATATATATTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0350 a0001c0001t0010g0350	1	358	0.0028	15	c.195 others(32): Show c.1958-908_1958-907insATATATATATATATT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20264367	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	358	0.0028	15	c.195 others(32): Show c.1958-908_1958-907insATATATATATATATA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20267026	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0330 a0001c0001t0001g0331	2	358	0.0056	15	c.195 others(34): Show c.1958-3581_1958-3567dupAAAAAAAAAAAAAAA	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01099.hp2 others(19): Show HG01069.hp1 HG01070.hp2 HG01099.hp2 HG01168.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01981.hp2 HG02602.hp1 HG02602.hp2 HG02809.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp1 HG03490.hp2 NA18906.hp2 NA18973.hp1 NA18984.hp2 NA19005.hp2 NA19010.hp2 NA19078.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016	a0001c0001t0001g0028 a0001c0001t0002g0033 a0001c0001t0002g0046 others(19): Show a0001c0001t0001g0028 a0001c0001t0002g0033 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0067 a0001c0001t0002g0076 a0001c0001t0002g0095 a0001c0001t0002g0278 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0298 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0054 a0001c0001t0004g0073 a0001c0001t0005g0179 a0001c0001t0005g0199 a0001c0001t0005g0205 a0001c0001t0006g0346 a0001c0001t0014g0031 a0001c0001t0016g0057 a0001c0001t0016g0058	22	358	0.0615	15	c.195 others(34): Show c.1957+3611_1957+3625dupTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM3_chr9_2799152_2849095	2821443	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19079.hp1 HG02615.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0252 a0001c0005t0001g0074 a0001c0001t0001g0252 a0001c0005t0001g0074	2	420	0.0048	15	c.118 others(34): Show c.1189-1360_1189-1346dupTTTTTTTTTTTTTTT	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	12/17			chr9	TogoVar
PUS7L_chr12_43713992_43763790	43718776	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	306	0.0033	15	c.11 others(28): Show c.11599_*11600insTTTTTTTTTTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		215		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAATAT others(8): Show AAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0174 a0002c0002t0003g0174	1	306	0.0033	15	c.11 others(28): Show c.11568_*11569insATATATATATATTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0125 a0002c0003t0017g0125	1	306	0.0033	15	c.11 others(28): Show c.11568_*11569insATATATATATATATA	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43760197	A A	ATGCCAAA others(8): Show ATGCCAAAAACCTTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00738.hp1 others(98): Show HG00408.hp1 HG00597.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18953.hp1 NA18962.hp1 NA18963.hp2 NA18968.hp1 NA18984.hp1 NA19006.hp2 NA19043.hp1 NA19068.hp2 NA19072.hp2 NA19078.hp2 NA19080.hp1 NA19082.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(4): Show a0002 a0003 a0006 a0009 a0011 a0015 a0016	a0002c0002 a0002c0003 a0003c0004 others(5): Show a0002c0002 a0002c0003 a0003c0004 a0006c0008 a0009c0016 a0011c0015 a0015c0017 a0016c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(30): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0010 a0002c0002t0014 a0002c0002t0019 a0002c0002t0020 a0002c0002t0023 a0002c0002t0026 a0002c0002t0028 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0034 a0002c0002t0048 a0002c0002t0049 a0002c0002t0050 a0002c0002t0052 a0002c0002t0058 a0002c0002t0059 a0002c0002t0060 a0002c0002t0071 a0002c0003t0008 a0002c0003t0017 a0003c0004t0024 a0003c0004t0035 a0006c0008t0029 a0009c0016t0005 a0011c0015t0036 a0015c0017t0003 a0016c0018t0067	a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0002g0178 others(78): Show a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0002g0178 a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0028 a0002c0002t0003g0114 a0002c0002t0003g0118 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0208 a0002c0002t0003g0237 a0002c0002t0003g0246 a0002c0002t0004g0005 a0002c0002t0004g0011 a0002c0002t0004g0036 a0002c0002t0004g0038 a0002c0002t0004g0167 a0002c0002t0004g0205 a0002c0002t0004g0206 a0002c0002t0004g0209 a0002c0002t0005g0027 a0002c0002t0005g0062 a0002c0002t0005g0107 a0002c0002t0005g0108 a0002c0002t0005g0111 a0002c0002t0005g0113 a0002c0002t0005g0115 a0002c0002t0005g0116 a0002c0002t0005g0162 a0002c0002t0010g0021 a0002c0002t0010g0022 a0002c0002t0010g0068 a0002c0002t0010g0122 a0002c0002t0014g0016 a0002c0002t0014g0103 a0002c0002t0014g0105 a0002c0002t0019g0042 a0002c0002t0019g0043 a0002c0002t0019g0046 a0002c0002t0019g0053 a0002c0002t0020g0101 a0002c0002t0020g0104 a0002c0002t0020g0110 a0002c0002t0023g0193 a0002c0002t0023g0200 a0002c0002t0026g0117 a0002c0002t0026g0245 a0002c0002t0028g0033 a0002c0002t0031g0197 a0002c0002t0031g0198 a0002c0002t0032g0244 a0002c0002t0033g0169 a0002c0002t0034g0061 a0002c0002t0048g0177 a0002c0002t0049g0109 a0002c0002t0050g0173 a0002c0002t0052g0170 a0002c0002t0058g0211 a0002c0002t0059g0064 a0002c0002t0060g0228 a0002c0002t0071g0204 a0002c0003t0008g0192 a0002c0003t0017g0125 a0002c0003t0017g0154 a0002c0003t0017g0199 a0002c0003t0017g0248 a0003c0004t0024g0106 a0003c0004t0024g0152 a0003c0004t0035g0153 a0006c0008t0029g0119 a0006c0008t0029g0120 a0009c0016t0005g0112 a0011c0015t0036g0102 a0015c0017t0003g0168 a0016c0018t0067g0210	101	306	0.3301	15	c.-14 others(26): Show c.-1485_-1484insCCAAGGTTTTTGGCA	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		1408		chr12	TogoVar
PUS7_chr7_105451503_105527271	105456070	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	350	0.0029	15	c.17 others(26): Show c.1719_*1720insATATATATATATATA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		432		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAATATAT others(8): Show AAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02818.hp2 NA18980.hp2 HG00673.hp1 HG02818.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0134 a0001c0001t0001g0275 a0001c0001t0003g0205 a0001c0001t0001g0134 a0001c0001t0001g0275 a0001c0001t0003g0205	3	350	0.0086	15	c.17 others(26): Show c.1713_*1714insATATATATATATATT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	350	0.0029	15	c.17 others(26): Show c.1713_*1714insATATATATATATATA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105496257	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18980.hp1 NA18955.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0020 a0001c0001t0001g0026	2	350	0.0057	15	c.731 others(32): Show c.731-1005_731-1004insCTCTCTCTCTCTCTC	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	5/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105508871	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03710.hp1 HG03831.hp1 others(1): Show HG02145.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0302 a0001c0001t0002g0308 a0001c0001t0002g0325 others(1): Show a0001c0001t0002g0302 a0001c0001t0002g0308 a0001c0001t0002g0325 a0001c0001t0017g0330	4	350	0.0114	15	c.-32 others(30): Show c.-32-342_-32-328dupTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19004.hp2 NA19079.hp2 HG01891.hp2 NA19004.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0015 a0001c0001t0001g0264 a0001c0003t0003g0268 a0001c0001t0001g0015 a0001c0001t0001g0264 a0001c0003t0003g0268	3	350	0.0086	15	c.-32 others(30): Show c.-32-655_-32-641dupTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105515791	T T	TTTATTTA others(8): Show TTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02280.hp2 HG02572.hp2 others(8): Show HG01261.hp1 HG02280.hp2 HG02572.hp2 HG03453.hp1 HG03540.hp2 NA18960.hp1 NA18970.hp1 NA19000.hp2 NA19003.hp2 NA19086.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0004t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0097 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0003g0064 a0001c0001t0005g0055 a0001c0004t0001g0093	11	350	0.0314	15	c.-33 others(32): Show c.-33+6260_-33+6261insTAAATAAATAAATAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PUSL1_chr1_1303597_1316677	1315094	G G	GTGGTTTA others(8): Show GTGGTTTATATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	352	0.0028	15	c.37 others(26): Show c.3715_*3716insTGGTTTATATTTATT	PUSL1	ENSG00000169972.13	transcript	ENST00000379031.10	protein_coding		3418		chr1	TogoVar
PVALB_chr22_36795703_36822035	36803678	T T	TGGATGGA others(8): Show TGGATGGATGGATTGG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	421	0.0024	15	c.305 others(32): Show c.305-2761_305-2760insCCAATCCATCCATCC	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding	3/3			chr22	TogoVar
PVALB_chr22_36795703_36822035	36821788	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02300.hp2 HG01361.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0028 a0001c0001t0002g0017 a0001c0001t0002g0028	2	421	0.0048	15	c.-47 others(26): Show c.-4784_-4783insAAAAAAAAAAAAAAA	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding		4754		chr22	TogoVar
PVR_chr19_44638910_44671162	44645443	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp2 HG01496.hp1 HG00741.hp1 HG01192.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0023 a0001c0001t0024	a0001c0001t0023g0115 a0001c0001t0023g0116 a0001c0001t0024g0114 a0001c0001t0023g0115 a0001c0001t0023g0116 a0001c0001t0024g0114	3	412	0.0073	15	c.79+ others(30): Show c.79+1270_79+1271insTATATATATATATTA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PVR_chr19_44638910_44671162	44648652	C C	CTGTTTTG others(8): Show CTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0085 a0002c0002t0085	a0002c0002t0085g0064 a0002c0002t0085g0064	1	412	0.0024	15	c.427 others(32): Show c.427+1094_427+1108dupGTTTTGTTTTGTTTT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PWWP2A_chr5_160086339_160124450	160109772	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	384	0.0026	15	c.584 others(32): Show c.584+9032_584+9033insATATATATATATATA	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109774	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0337 a0002c0002t0001g0337	1	384	0.0026	15	c.584 others(32): Show c.584+9030_584+9031insATATATATATATATT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(8): Show AATGGTGATGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA19004.hp2 NA18966.hp1 NA19004.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0048 a0001c0012t0001g0048	2	374	0.0054	15	c.-46 others(26): Show c.-4667_-4666insATGGTGATGATGGTG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4639		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132397163	C C	CCGGCGGC others(8): Show CCGGCGGCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	374	0.0027	15	c.-64 others(22): Show c.-64_-63insCGGCGGCGGCGGCGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		36		chr10	TogoVar
PWWP3A_chr19_1349959_1383429	1354984	A A	AGCGGCGG others(8): Show AGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0126 a0002c0003t0017g0126	1	412	0.0024	15	c.-21 others(24): Show c.-210_-196dupCGGCGGCGGCGGCGG	PWWP3A	ENSG00000160953.17	transcript	ENST00000591337.7	protein_coding	1/14	1383	INFO_REALIGN_3_PRIME	chr19	TogoVar
PXDNL_chr8_51314577_51814445	51455131	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	122	0.0082	15	c.983 others(32): Show c.983-1347_983-1346insCTTTTTTTTTTTTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	9/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51541461	G G	GGAACACA others(8): Show GGAACACAAATACTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG02109.hp1 others(10): Show HG00741.hp2 HG01884.hp2 HG02109.hp1 HG02145.hp2 HG02615.hp1 HG02630.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03669.hp2 NA18522.hp1 NA18956.hp2 NA19240.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0009 a0010 a0027	a0001c0010 a0003c0003 a0004c0004 others(3): Show a0001c0010 a0003c0003 a0004c0004 a0009c0008 a0010c0011 a0027c0023	a0001c0010t0002 a0003c0003t0001 a0004c0004t0001 others(5): Show a0001c0010t0002 a0003c0003t0001 a0004c0004t0001 a0004c0004t0003 a0009c0008t0001 a0009c0008t0003 a0010c0011t0003 a0027c0023t0003	a0001c0010t0002g0100 a0003c0003t0001g0021 a0004c0004t0001g0037 others(10): Show a0001c0010t0002g0100 a0003c0003t0001g0021 a0004c0004t0001g0037 a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0065 a0004c0004t0001g0076 a0004c0004t0003g0001 a0009c0008t0001g0059 a0009c0008t0001g0064 a0009c0008t0003g0007 a0010c0011t0003g0012 a0027c0023t0003g0004	13	122	0.1066	15	c.380 others(34): Show c.380+15378_380+15379insAAAGTATTTGTGTTC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51711122	A A	ATTACGCC others(8): Show ATTACGCCAAAAACTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp1 HG02258.hp2 others(12): Show HG01192.hp2 HG02109.hp1 HG02258.hp2 HG02630.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0009 a0012 a0024 a0028 a0034	a0001c0001 a0001c0010 a0002c0002 others(8): Show a0001c0001 a0001c0010 a0002c0002 a0003c0005 a0004c0004 a0006c0025 a0009c0008 a0012c0013 a0024c0044 a0028c0027 a0034c0036	a0001c0001t0002 a0001c0001t0003 a0001c0010t0003 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0010t0003 a0002c0002t0003 a0002c0002t0004 a0003c0005t0003 a0004c0004t0003 a0006c0025t0003 a0009c0008t0003 a0012c0013t0003 a0024c0044t0003 a0028c0027t0003 a0034c0036t0003	a0001c0001t0002g0110 a0001c0001t0003g0013 a0001c0010t0003g0008 others(12): Show a0001c0001t0002g0110 a0001c0001t0003g0013 a0001c0010t0003g0008 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0004g0015 a0003c0005t0003g0006 a0003c0005t0003g0010 a0004c0004t0003g0001 a0006c0025t0003g0009 a0009c0008t0003g0007 a0012c0013t0003g0018 a0024c0044t0003g0005 a0028c0027t0003g0002 a0034c0036t0003g0011	15	122	0.1230	15	c.165 others(34): Show c.165-56363_165-56362insCAGTTTTTGGCGTAA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1629040	C C	CTCACTTG others(8): Show CTCACTTGAAATCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG01516.hp1 others(21): Show HG00323.hp2 HG01106.hp2 HG01516.hp1 HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02622.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0023 a0001c0024 a0001c0046	a0001c0001t0004 a0001c0004t0004 a0001c0005t0004 others(6): Show a0001c0001t0004 a0001c0004t0004 a0001c0005t0004 a0001c0006t0004 a0001c0006t0027 a0001c0011t0004 a0001c0023t0004 a0001c0024t0004 a0001c0046t0025	a0001c0001t0004g0301 a0001c0004t0004g0029 a0001c0004t0004g0121 others(21): Show a0001c0001t0004g0301 a0001c0004t0004g0029 a0001c0004t0004g0121 a0001c0004t0004g0151 a0001c0004t0004g0153 a0001c0004t0004g0163 a0001c0004t0004g0203 a0001c0004t0004g0206 a0001c0004t0004g0208 a0001c0004t0004g0244 a0001c0004t0004g0305 a0001c0004t0004g0310 a0001c0004t0004g0311 a0001c0005t0004g0246 a0001c0006t0004g0231 a0001c0006t0004g0283 a0001c0006t0004g0285 a0001c0006t0027g0303 a0001c0011t0004g0003 a0001c0011t0004g0041 a0001c0011t0004g0043 a0001c0023t0004g0230 a0001c0024t0004g0017 a0001c0046t0025g0209	24	322	0.0745	15	c.51 others(26): Show c.5163_*5164insTTTGATTTCAAGTGA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding		2846		chr2	TogoVar
PXDN_chr2_1626887_1749515	1680117	A A	AGATGGTG others(8): Show AGATGGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG01071.hp1 others(17): Show HG00323.hp2 HG00558.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp2 HG01928.hp1 HG02004.hp2 HG02056.hp2 HG02273.hp1 HG02818.hp1 HG02965.hp1 HG03195.hp2 HG03540.hp1 NA18955.hp1 NA18985.hp1 NA19010.hp2 NA19074.hp1 NA19087.hp1 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0003 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0006t0027 a0001c0011t0004 a0001c0042t0030	a0001c0001t0001g0034 a0001c0001t0001g0136 a0001c0001t0001g0138 others(17): Show a0001c0001t0001g0034 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0002g0292 a0001c0001t0003g0007 a0001c0001t0009g0177 a0001c0002t0003g0083 a0001c0002t0003g0229 a0001c0003t0002g0023 a0001c0003t0002g0038 a0001c0003t0002g0279 a0001c0003t0008g0304 a0001c0003t0012g0254 a0001c0006t0027g0303 a0001c0011t0004g0003 a0001c0011t0004g0041 a0001c0011t0004g0043 a0001c0042t0030g0088	20	322	0.0621	15	c.730 others(28): Show c.730+61_730+75dupCACACACACACCATC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	7/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1710793	A A	TCTCCACC others(8): Show TCTCCACCAGCACCCA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0068 a0001c0001t0009g0068	1	322	0.0031	15	c.201 others(34): Show c.201-17659_201-17658insGGGTGCTGGTGGAGA	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar

Search by Variant

Search

Search Results