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
PDE9A_chr21_42648621_42780509	42704433	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0202 a0001c0003t0001g0202	1	324	0.0031	22	c.262 others(39): Show c.262+5438_262+5459dupCACACACACACACACACACACA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0305 a0001c0002t0001g0305	1	324	0.0031	22	c.263 others(39): Show c.263-5145_263-5144insATATATATATATATATTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	324	0.0031	22	c.263 others(39): Show c.263-5145_263-5144insATATATATATATTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	324	0.0031	22	c.263 others(39): Show c.263-5145_263-5144insATATATATATTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	324	0.0031	22	c.263 others(39): Show c.263-5145_263-5144insATATATATTTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCACC others(15): Show TCCCCACCCCCCCCCCACCCCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0291 a0001c0001t0040g0291	1	302	0.0033	22	c.581 others(39): Show c.581-1147_581-1146insGGGGGGTGGGGGGGGGGTGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCCCC others(15): Show TCCCCCCCCACCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0058 a0004c0006t0058	a0004c0006t0058g0058 a0004c0006t0058g0058	1	302	0.0033	22	c.581 others(39): Show c.581-1147_581-1146insGGGGGGGGGGGGGTGGGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFA_chr7_492258_524846	499720	T T	TCCCCCCC others(15): Show TCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0037 a0001c0002t0003g0037	1	302	0.0033	22	c.581 others(39): Show c.581-1147_581-1146insGGGGGGGGGGGGGGGGGGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	5/5			chr7	TogoVar
PDGFA_chr7_492258_524846	510707	G G	GGGGAGGG others(15): Show GGGGAGGGGAGGGGAGGGGGAGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0117 a0001c0001t0024g0117	1	302	0.0033	22	c.453 others(37): Show c.453+101_453+102insTCTCCCCCTCCCCTCCCCTCCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDGFC_chr4_156755454_156976799	156824325	T T	TATATATA others(15): Show TATATATATATACACATATACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0122 a0001c0002t0005g0122	1	208	0.0048	22	c.315 others(41): Show c.315-13309_315-13308insGTGTATATGTGTATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156824327	T T	TATATATA others(15): Show TATATATACACACATACACATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0091 a0001c0001t0011g0091	1	208	0.0048	22	c.315 others(41): Show c.315-13311_315-13310insGTATGTGTATGTGTGTATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156824327	T T	TATATATA others(15): Show TATATATACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA18989.hp1 HG03492.hp2 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0075 a0001c0002t0002g0068 a0001c0002t0002g0075	2	208	0.0096	22	c.315 others(41): Show c.315-13311_315-13310insGTATGTGTATATGTGTATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156824327	T T	TATATATA others(15): Show TATATATATATACACATATACAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	208	0.0048	22	c.315 others(41): Show c.315-13311_315-13310insGTGTATATGTGTATATATATAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156851930	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	208	0.0048	22	c.119 others(39): Show c.119-1536_119-1515dupTTTTTTTTTTTTTTTTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156960252	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03486.hp1 HG01884.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0174 a0001c0001t0005g0175 a0001c0001t0001g0174 a0001c0001t0005g0175	2	208	0.0096	22	c.118 others(41): Show c.118+10512_118+10533dupTATATATATATATATATATATA	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFC_chr4_156755454_156976799	156960254	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0184 a0001c0001t0016g0184	1	208	0.0048	22	c.118 others(41): Show c.118+10531_118+10532insCATATATATATATATATATATA	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	103925716	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	200	0.0050	22	c.987 others(39): Show c.987+1195_987+1196insATATATATATATATATATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	6/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104082133	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG06807.hp1 others(2): Show HG01891.hp1 HG02559.hp2 HG06807.hp1 NA19002.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0002t0001 a0001c0006t0002 a0001c0001t0002 a0001c0002t0001 a0001c0006t0002	a0001c0001t0002g0073 a0001c0002t0001g0066 a0001c0002t0001g0121 others(2): Show a0001c0001t0002g0073 a0001c0002t0001g0066 a0001c0002t0001g0121 a0001c0002t0001g0161 a0001c0006t0002g0159	5	200	0.0250	22	c.124 others(41): Show c.124+81670_124+81671insATATATATATATATATATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104082137	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG02886.hp2 HG02055.hp1 HG02630.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0002t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0005	a0001c0001t0009g0154 a0001c0002t0001g0164 a0001c0002t0005g0180 a0001c0001t0009g0154 a0001c0002t0001g0164 a0001c0002t0005g0180	3	200	0.0150	22	c.124 others(41): Show c.124+81666_124+81667insATATATATATATATATATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119629	T T	TTAATATA others(15): Show TTAATATATAATATATTAATAGA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	200	0.0050	22	c.124 others(41): Show c.124+44153_124+44174dupTCTATTAATATATTATATATTA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRA_chr4_54224293_54303245	54284564	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	300	0.0033	22	c.232 others(39): Show c.2324-794_2324-773dupAGAGAGAGAGAGAGAGAGAGAG	PDGFRA	ENSG00000134853.12	transcript	ENST00000257290.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02897.hp2 HG01993.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0002t0001g0231 a0001c0001t0001g0010 a0001c0002t0001g0231	2	400	0.0050	22	c.-17 others(31): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	400	0.0025	22	c.353 others(37): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17638786	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0389 a0001c0001t0001g0389	1	400	0.0025	22	c.940 others(39): Show c.940-3826_940-3825insTATATATATATATATATATAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDHA1_chrX_19338927_19366718	19339563	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02055.hp1 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0041 a0001c0002t0006g0049 a0001c0002t0002g0041 a0001c0002t0006g0049	2	247	0.0081	22	c.-44 others(33): Show c.-4475_-4474insTGTGTGTGTGTGTGTGTGTGTG	PDHA1	ENSG00000131828.14	transcript	ENST00000422285.7	protein_coding		4363		chrX	TogoVar
PDHX_chr11_34911618_35001128	34964773	A A	ATATTAGC others(15): Show ATATTAGCATAACTAATATTAGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp1 HG01496.hp2 others(26): Show HG01192.hp2 HG01361.hp1 HG01496.hp2 HG01943.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02717.hp1 HG02738.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03654.hp1 HG03710.hp1 HG04184.hp1 HG04204.hp2 NA18980.hp2 NA19043.hp2 NA19054.hp2 NA19078.hp2 NA19085.hp2 NA19091.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0014 a0001c0023 others(3): Show a0001c0002 a0001c0014 a0001c0023 a0002c0004 a0002c0007 a0007c0015	a0001c0002t0002 a0001c0014t0009 a0001c0023t0009 others(3): Show a0001c0002t0002 a0001c0014t0009 a0001c0023t0009 a0002c0004t0004 a0002c0007t0004 a0007c0015t0004	a0001c0002t0002g0005 a0001c0014t0009g0109 a0001c0014t0009g0110 others(23): Show a0001c0002t0002g0005 a0001c0014t0009g0109 a0001c0014t0009g0110 a0001c0023t0009g0199 a0002c0004t0004g0222 a0002c0004t0004g0224 a0002c0004t0004g0232 a0002c0004t0004g0233 a0002c0004t0004g0234 a0002c0004t0004g0235 a0002c0004t0004g0236 a0002c0004t0004g0237 a0002c0004t0004g0238 a0002c0004t0004g0239 a0002c0004t0004g0240 a0002c0004t0004g0265 a0002c0004t0004g0266 a0002c0007t0004g0022 a0002c0007t0004g0223 a0002c0007t0004g0226 a0002c0007t0004g0228 a0002c0007t0004g0229 a0002c0007t0004g0230 a0002c0007t0004g0231 a0007c0015t0004g0225 a0007c0015t0004g0227	29	314	0.0924	22	c.642 others(39): Show c.642-1820_642-1799dupTTAGCATAACTAATATTAGCTA	PDHX	ENSG00000110435.13	transcript	ENST00000227868.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDIA5_chr3_123062025_123167104	123072912	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02630.hp1 others(6): Show HG01109.hp2 HG02486.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp1 HG03139.hp2 HG03209.hp1 HG03516.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0011 others(2): Show a0001c0001 a0001c0004 a0001c0011 a0002c0007 a0002c0008	a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0011t0001 a0002c0007t0001 a0002c0008t0001	a0001c0001t0001g0011 a0001c0001t0001g0282 a0001c0001t0001g0299 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0282 a0001c0001t0001g0299 a0001c0001t0001g0323 a0001c0004t0001g0257 a0001c0011t0001g0283 a0002c0007t0001g0286 a0002c0007t0001g0287 a0002c0008t0001g0288	9	332	0.0271	22	c.42+ others(37): Show c.42+5716_42+5737dupGTGTGTGTGTGTGTGTGTGTGT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00733.hp1 others(3): Show HG00423.hp1 HG00597.hp1 HG00733.hp1 HG01175.hp1 HG01257.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0069 a0001c0001t0001g0225 a0001c0002t0001g0296 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0225 a0001c0002t0001g0296 a0001c0003t0001g0064 a0001c0004t0001g0013 a0001c0004t0001g0100	6	332	0.0181	22	c.609 others(39): Show c.609+1080_609+1101dupATATATATATATATATATATAT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDK1_chr2_172551090_172613669	172583281	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0271 a0001c0001t0040g0271	1	342	0.0029	22	c.946 others(39): Show c.946-2987_946-2966dupTTTTTTTTTTTTTTTTTTTTTT	PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19010.hp2 NA18979.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0115 a0001c0001t0003g0122 a0001c0001t0002g0115 a0001c0001t0003g0122	2	258	0.0078	22	c.248 others(39): Show c.248+1687_248+1708dupTTTTTTTTTTTTTTTTTTTTTT	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDLIM1_chr10_95232572_95296003	95257001	A A	AAGAAAAG others(15): Show AAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02965.hp2 HG01243.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	2	338	0.0059	22	c.533 others(39): Show c.533+6862_533+6863insCTTTTCTTTTCTTTTCTTTTCT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM3_chr4_185495660_185540507	185504990	T T	TACCCATG others(15): Show TACCCATGAAACAGTAACTCCCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	412	0.0024	22	c.794 others(37): Show c.794-426_794-405dupGGGGAGTTACTGTTTCATGGGT	PDLIM3	ENSG00000154553.17	transcript	ENST00000284767.12	protein_coding	6/7			chr4	TogoVar
PDLIM5_chr4_94446942_94673223	94530510	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0043 a0001c0006t0006g0043	1	218	0.0046	22	c.248 others(39): Show c.248+6651_248+6672dupTATATATATATATATATATATA	PDLIM5	ENSG00000163110.15	transcript	ENST00000317968.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDPK1_chr16_2533021_2608188	2533430	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA19010.hp2 NA19240.hp1 HG00438.hp2 NA19010.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0056 a0001c0001t0001g0138 a0001c0003t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0138 a0001c0003t0001g0052	3	184	0.0163	22	c.-46 others(33): Show c.-4683_-4682insTTTTTTTTTTTTTTTTTTTTTT	PDPK1	ENSG00000140992.19	transcript	ENST00000342085.9	protein_coding		4590		chr16	TogoVar
PDPR_chr16_70109332_70167537	70122854	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00741.hp2 others(37): Show HG00323.hp1 HG00597.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02040.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02559.hp2 HG02647.hp2 HG02738.hp2 HG03490.hp2 HG03704.hp1 HG03710.hp2 NA18747.hp1 NA18940.hp1 NA18945.hp2 NA18964.hp1 NA18972.hp2 NA18977.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19057.hp2 NA19065.hp1 NA19090.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0055 a0002c0002t0001 a0002c0002t0006 others(12): Show a0001c0001t0055 a0002c0002t0001 a0002c0002t0006 a0002c0002t0013 a0002c0002t0014 a0002c0002t0023 a0002c0002t0025 a0002c0002t0060 a0002c0002t0061 a0002c0002t0062 a0002c0002t0069 a0002c0002t0070 a0002c0002t0071 a0002c0002t0072 a0002c0002t0073	a0001c0001t0055g0262 a0002c0002t0001g0031 a0002c0002t0001g0038 others(37): Show a0001c0001t0055g0262 a0002c0002t0001g0031 a0002c0002t0001g0038 a0002c0002t0001g0043 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0079 a0002c0002t0001g0084 a0002c0002t0001g0087 a0002c0002t0001g0093 a0002c0002t0001g0096 a0002c0002t0006g0039 a0002c0002t0006g0064 a0002c0002t0006g0067 a0002c0002t0006g0073 a0002c0002t0006g0075 a0002c0002t0006g0077 a0002c0002t0006g0085 a0002c0002t0006g0091 a0002c0002t0006g0092 a0002c0002t0006g0097 a0002c0002t0013g0040 a0002c0002t0013g0062 a0002c0002t0013g0086 a0002c0002t0014g0065 a0002c0002t0014g0068 a0002c0002t0014g0083 a0002c0002t0023g0070 a0002c0002t0025g0063 a0002c0002t0025g0072 a0002c0002t0060g0071 a0002c0002t0061g0098 a0002c0002t0062g0099 a0002c0002t0069g0078 a0002c0002t0070g0042 a0002c0002t0071g0089 a0002c0002t0072g0037 a0002c0002t0073g0090	40	289	0.1384	22	c.227 others(39): Show c.227+2149_227+2150insACACACACACACACACACACAC	PDPR	ENSG00000090857.14	transcript	ENST00000288050.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDS5A_chr4_39817863_39982911	39831875	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19054.hp2 NA18992.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0323 a0001c0002t0004g0325 a0001c0002t0004g0323 a0001c0002t0004g0325	2	356	0.0056	22	c.401 others(41): Show c.4010+5959_4010+5980dupTTTTTTTTTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	32/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842903	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18747.hp2 NA18940.hp1 others(3): Show HG02698.hp1 NA18747.hp2 NA18940.hp1 NA18952.hp1 NA19012.hp2 NA19054.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0008 a0001c0002 a0001c0007 a0001c0008	a0001c0002t0004 a0001c0007t0004 a0001c0008t0004 a0001c0002t0004 a0001c0007t0004 a0001c0008t0004	a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0332 others(3): Show a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0004g0332 a0001c0002t0004g0342 a0001c0007t0004g0330 a0001c0008t0004g0350	6	356	0.0169	22	c.354 others(39): Show c.3549-848_3549-847insTATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG01192.hp2 others(15): Show HG00609.hp1 HG00642.hp1 HG01192.hp2 HG01433.hp1 HG02132.hp2 HG02257.hp2 HG02486.hp2 HG02886.hp2 HG03704.hp2 HG03834.hp2 HG04199.hp2 NA18939.hp1 NA18947.hp2 NA18967.hp2 NA18968.hp2 NA19055.hp1 NA19080.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 others(15): Show a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0006g0234 a0001c0001t0006g0237 a0001c0001t0007g0108 a0001c0002t0002g0256 a0001c0002t0002g0296	18	356	0.0506	22	c.354 others(39): Show c.3549-875_3549-854dupTATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842935	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0317 a0001c0002t0004g0317	1	356	0.0028	22	c.354 others(39): Show c.3549-880_3549-879insCATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39923638	A A	AACACACA others(15): Show AACACACACACACAAACACACAC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18962.hp2 NA18998.hp1 HG02080.hp1 NA18962.hp2 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0022 a0001c0002t0005 a0001c0002t0022	a0001c0002t0005g0264 a0001c0002t0005g0293 a0001c0002t0022g0298 a0001c0002t0005g0264 a0001c0002t0005g0293 a0001c0002t0022g0298	3	356	0.0084	22	c.528 others(37): Show c.528-891_528-890insGTGTGTGTTTGTGTGTGTGTGT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	5/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39923638	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG01433.hp2 others(4): Show HG00438.hp1 HG00642.hp2 HG01433.hp2 HG01975.hp2 HG02293.hp2 HG02300.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0192 others(4): Show a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0271	7	356	0.0197	22	c.528 others(37): Show c.528-912_528-891dupGTGTGTGTGTGTGTGTGTGTGT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	5/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39929519	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03471.hp1 HG01952.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0017 a0001c0001t0007g0112 a0001c0001t0001g0017 a0001c0001t0007g0112	2	356	0.0056	22	c.139 others(39): Show c.139-1377_139-1356dupTATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655359	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01928.hp1 HG02683.hp2 HG00597.hp2 HG01928.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0039 a0001c0004t0002 a0001c0001t0002 a0001c0001t0039 a0001c0004t0002	a0001c0001t0002g0178 a0001c0001t0039g0276 a0001c0004t0002g0160 a0001c0001t0002g0178 a0001c0001t0039g0276 a0001c0004t0002g0160	3	334	0.0090	22	c.313 others(39): Show c.313-2864_313-2863insATATATATATATATATATATAT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG01192.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0109 a0001c0001t0010g0332 a0001c0001t0010g0109 a0001c0001t0010g0332	2	334	0.0060	22	c.313 others(39): Show c.313-2864_313-2863insATATATATATATATATATATTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32733985	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02129.hp1 HG02622.hp2 others(2): Show HG01243.hp1 HG02129.hp1 HG02622.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0001t0051 a0001c0002t0011 others(1): Show a0001c0001t0024 a0001c0001t0051 a0001c0002t0011 a0001c0002t0034	a0001c0001t0024g0197 a0001c0001t0024g0198 a0001c0001t0051g0199 others(2): Show a0001c0001t0024g0197 a0001c0001t0024g0198 a0001c0001t0051g0199 a0001c0002t0011g0281 a0001c0002t0034g0210	5	334	0.0150	22	c.224 others(41): Show c.2248-1179_2248-1158dupCACACACACACACACACACACA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01261.hp1 others(20): Show HG00597.hp2 HG00673.hp2 HG01261.hp1 HG02027.hp2 HG02080.hp1 HG02083.hp1 HG02165.hp1 HG02818.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18956.hp2 NA18981.hp2 NA18989.hp2 NA18995.hp2 NA19066.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0071 others(20): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0159 a0001c0001t0002g0115 a0001c0001t0003g0156	23	416	0.0553	22	c.-46 others(33): Show c.-4633_-4632insTATATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA20300.hp1 HG03453.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0248 a0001c0001t0001g0250	2	416	0.0048	22	c.-46 others(33): Show c.-4633_-4632insTTTATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00673.hp1 others(21): Show HG00408.hp2 HG00597.hp1 HG00673.hp1 HG01975.hp1 HG02129.hp2 HG02976.hp2 HG03209.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp2 NA18942.hp2 NA18956.hp1 NA18957.hp1 NA18964.hp2 NA18970.hp1 NA18972.hp1 NA18984.hp2 NA18989.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp2 NA19011.hp1 NA19066.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0085 a0001c0001t0001g0086 others(20): Show a0001c0001t0001g0012 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0276	24	416	0.0577	22	c.163 others(37): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107225123	C C	CTATATAT others(15): Show CTATATATATATTTATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp1 HG01099.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0192 a0001c0001t0007g0157 a0001c0001t0001g0192 a0001c0001t0007g0157	2	260	0.0077	22	c.703 others(41): Show c.703-12842_703-12841insTATATATATAAATATATATATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225135	T T	TTATATAT others(15): Show TTATATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0234 a0001c0001t0007g0234	1	260	0.0039	22	c.703 others(41): Show c.703-12854_703-12853insTAAATATATATATATATATATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar

Search by Variant

Search

Search Results