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
PDE8A_chr15_84976856_85144142	84978085	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0326 a0001c0002t0001g0326	1	344	0.0029	26	c.-40 others(37): Show c.-4078_-4077insGTGTGTGTGTGTGTGTGTGTGTGTGT	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding		3770		chr15	TogoVar
PDE8A_chr15_84976856_85144142	85119468	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01255.hp1 others(12): Show HG00558.hp2 HG00673.hp2 HG01255.hp1 HG02027.hp1 HG02074.hp2 HG02080.hp1 HG02165.hp2 HG02622.hp2 HG02723.hp2 HG02922.hp1 HG03139.hp2 HG03834.hp2 NA18949.hp1 NA18988.hp1 NA20300.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0013 a0001c0001 a0001c0002 a0008c0013	a0001c0001t0001 a0001c0002t0001 a0008c0013t0001 a0001c0001t0001 a0001c0002t0001 a0008c0013t0001	a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0121 others(12): Show a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0002t0001g0300 a0001c0002t0001g0314 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0322 a0001c0002t0001g0331 a0008c0013t0001g0078	15	344	0.0436	26	c.173 others(45): Show c.1735-1316_1735-1315insAAAAAAAAAAAAAAAAAAAAAAAAAA	PDE8A	ENSG00000073417.15	transcript	ENST00000394553.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
PDE8B_chr5_77205680_77433256	77378049	C C	CACACACA others(19): Show CACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0133 a0001c0003t0008g0133	1	314	0.0032	26	c.116 others(47): Show c.1168-22199_1168-22198insACACACACACACACACACACACAC AT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21			chr5	TogoVar
PDE8B_chr5_77205680_77433256	77388138	C C	CTTTGGAG others(19): Show CTTTGGAGGAGAAGAGGTGTTCTGGTT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19088.hp2 NA19080.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0281 a0001c0001t0002g0252 a0001c0001t0002g0281	2	314	0.0064	26	c.116 others(47): Show c.1168-12103_1168-12078dupGGAGAAGAGGTGTTCTGGTTTTTG GA	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE8B_chr5_77205680_77433256	77397026	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0238 a0001c0001t0006g0238	1	314	0.0032	26	c.116 others(45): Show c.1168-3198_1168-3197insTTTTTTTTTTTTTTTTTTTTTTTTTT	PDE8B	ENSG00000113231.14	transcript	ENST00000264917.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0141 a0001c0004t0001g0141	1	324	0.0031	26	c.263 others(43): Show c.263-5145_263-5144insATATATATATATATATATTTTTTTTT	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(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	324	0.0031	26	c.263 others(43): Show c.263-5145_263-5144insATATATATATATATATTTTTTTTTTT	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(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	324	0.0031	26	c.263 others(43): Show c.263-5145_263-5144insATATATATATATATTTTTTTTTTTTT	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(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	324	0.0031	26	c.263 others(43): Show c.263-5145_263-5144insATATATATATATTTTTTTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFA_chr7_492258_524846	519896	T T	TCCCCCGC others(19): Show TCCCCCGCCCCCGCCCCCGCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0236 a0001c0001t0037g0236	1	302	0.0033	26	c.-92 others(35): Show c.-921_-896dupGGGGGGGGCGGGGGCGGGGGCGGGGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding		51		chr7	TogoVar
PDGFC_chr4_156755454_156976799	156851930	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	208	0.0048	26	c.119 others(43): Show c.119-1540_119-1515dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	1/5			chr4	TogoVar
PDGFD_chr11_103902189_104169147	103925716	C C	CACATATA others(19): Show CACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0199 a0001c0001t0021g0199	1	200	0.0050	26	c.987 others(43): Show c.987+1195_987+1196insATATATATATATATATATATATATGT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	6/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	103925716	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	200	0.0050	26	c.987 others(43): Show c.987+1195_987+1196insATATATATATATATATATATATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	6/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104082133	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01255.hp1 others(21): Show HG00323.hp2 HG00738.hp1 HG01255.hp1 HG01496.hp2 HG01978.hp2 HG02055.hp2 HG02273.hp2 HG02559.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18950.hp1 NA18953.hp1 NA18966.hp2 NA18980.hp1 NA18985.hp1 NA18992.hp1 NA19068.hp1 NA19076.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 a0001c0002t0005 a0003c0005t0002	a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0086 others(21): Show a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0163 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0097 a0001c0001t0003g0152 a0001c0001t0009g0192 a0001c0002t0001g0004 a0001c0002t0001g0014 a0001c0002t0001g0028 a0001c0002t0001g0076 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0179 a0001c0002t0005g0002 a0001c0002t0005g0191 a0003c0005t0002g0187	24	200	0.1200	26	c.124 others(45): Show c.124+81670_124+81671insATATATATATATATATATATATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104082137	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	200	0.0050	26	c.124 others(45): Show c.124+81666_124+81667insATATATATATATATATATATATATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFRL_chr8_17572216_17648144	17577082	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	400	0.0025	26	c.-17 others(35): Show c.-171_-170insAAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding		133		chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17590236	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG00733.hp1 others(26): Show HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01934.hp2 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp2 HG02300.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG03491.hp2 NA18952.hp2 NA18955.hp1 NA18961.hp1 NA18979.hp2 NA18988.hp2 NA18997.hp2 NA19004.hp2 NA19074.hp2 NA19079.hp1 NA19088.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0007t0001 a0002c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0078 a0001c0001t0001g0120 others(26): Show a0001c0001t0001g0008 a0001c0001t0001g0078 a0001c0001t0001g0120 a0001c0001t0001g0221 a0001c0001t0001g0256 a0001c0001t0001g0268 a0001c0001t0001g0281 a0001c0001t0001g0300 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0002t0001g0055 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0160 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0200 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0369 a0001c0002t0005g0302 a0001c0007t0001g0118 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263	29	400	0.0725	26	c.353 others(41): Show c.353+491_353+492insAAAAAAAAAAAAAAAAAAAAAAAAAA	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(19): Show TCCCCGCCCCCCCCACCCCCCCCCACC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	400	0.0025	26	c.940 others(41): Show c.940-710_940-709insCCCCCCACCCCCCCCCACCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641896	T T	TCCCCGCC others(19): Show TCCCCGCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	400	0.0025	26	c.940 others(41): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCCCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDGFRL_chr8_17572216_17648144	17641898	C C	CCCGCCCC others(19): Show CCCGCCCCCCCCCCCCCCCCCCCCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02109.hp2 HG02451.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0263 a0002c0003t0001g0293 a0002c0003t0001g0263 a0002c0003t0001g0293	2	400	0.0050	26	c.940 others(41): Show c.940-710_940-709insCCCCCCCCCCCCCCCCCCCCTCCGCC	PDGFRL	ENSG00000104213.13	transcript	ENST00000251630.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PDIA5_chr3_123062025_123167104	123072912	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp2 NA18906.hp1 others(2): Show HG02451.hp2 HG03225.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0017 others(1): Show a0001c0001 a0001c0003 a0001c0017 a0002c0007	a0001c0001t0001 a0001c0003t0001 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0017t0001 a0002c0007t0001	a0001c0001t0001g0256 a0001c0001t0001g0324 a0001c0003t0001g0012 others(2): Show a0001c0001t0001g0256 a0001c0001t0001g0324 a0001c0003t0001g0012 a0001c0017t0001g0284 a0002c0007t0001g0289	5	332	0.0151	26	c.42+ others(41): Show c.42+5712_42+5737dupGTGTGTGTGTGTGTGTGTGTGTGTGT	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(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02630.hp2 HG03942.hp1 others(5): Show HG02155.hp2 HG02630.hp2 HG03942.hp1 HG04115.hp2 NA18522.hp1 NA18962.hp2 NA18980.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0073 a0001c0001t0001g0181 a0001c0001t0001g0212 others(5): Show a0001c0001t0001g0073 a0001c0001t0001g0181 a0001c0001t0001g0212 a0001c0001t0001g0226 a0001c0002t0001g0131 a0001c0002t0001g0292 a0001c0003t0001g0101 a0001c0004t0001g0177	8	332	0.0241	26	c.609 others(43): Show c.609+1101_609+1102insATATATATATATATATATATATATAT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDK1_chr2_172551090_172613669	172587664	G G	GTGGGGGC others(19): Show GTGGGGGCCTGCTTTTATTCACTTATC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03490.hp1 HG01175.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0140 a0001c0001t0033g0175 a0001c0001t0033g0140 a0001c0001t0033g0175	2	342	0.0059	26	c.105 others(45): Show c.1056+1280_1056+1305dupGGGCCTGCTTTTATTCACTTATCTGG	PDK1	ENSG00000152256.14	transcript	ENST00000282077.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
PDK3_chrX_24460286_24539422	24496568	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03669.hp2 NA18969.hp2 HG02273.hp1 HG03669.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103	3	258	0.0116	26	c.248 others(43): Show c.248+1708_248+1709insTTTTTTTTTTTTTTTTTTTTTTTTTT	PDK3	ENSG00000067992.17	transcript	ENST00000379162.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PDLIM1_chr10_95232572_95296003	95256986	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0240 a0002c0003t0003g0240	1	338	0.0030	26	c.533 others(43): Show c.533+6877_533+6878insCTTTCTTTCTTTCTTTCTTTCTTTCT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDLIM2_chr8_22575475_22599298	22598903	C C	CGGGGGCC others(19): Show CGGGGGCCCCGGGTCCCTCGCAGACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	380	0.0026	26	c.49 others(37): Show c.4993_*4994insGGGGGCCCCGGGTCCCTCGCAGACCG	PDLIM2	ENSG00000120913.24	transcript	ENST00000409417.6	protein_coding		4606		chr8	TogoVar
PDLIM7_chr5_177478394_177502604	177497008	G G	GGGGGAGG others(19): Show GGGGGAGGGGAGGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0015 a0015	a0015c0011 a0015c0011	a0015c0011t0001 a0015c0011t0001	a0015c0011t0001g0158 a0015c0011t0001g0158	1	440	0.0023	26	c.-11 others(41): Show c.-11-486_-11-485insTCCCCTCCCCTCCCCCTCCCCTCCCC	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding	1/12			chr5	TogoVar
PDPR_chr16_70109332_70167537	70122854	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp1 NA18966.hp1 others(1): Show HG00423.hp2 HG02027.hp1 NA18966.hp1 NA18970.hp1	a0002 a0015 a0002 a0015	a0002c0002 a0015c0009 a0002c0002 a0015c0009	a0002c0002t0001 a0015c0009t0001 a0002c0002t0001 a0015c0009t0001	a0002c0002t0001g0032 a0002c0002t0001g0048 a0002c0002t0001g0051 others(1): Show a0002c0002t0001g0032 a0002c0002t0001g0048 a0002c0002t0001g0051 a0015c0009t0001g0088	4	289	0.0138	26	c.227 others(43): Show c.227+2149_227+2150insACACACACACACACACACACACACAC	PDPR	ENSG00000090857.14	transcript	ENST00000288050.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDS5A_chr4_39817863_39982911	39817880	C C	CTATATAT others(19): Show CTATATATATATACATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA19058.hp1 HG02071.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0023 a0001c0001t0016g0021 a0001c0001t0001g0023 a0001c0001t0016g0021	2	356	0.0056	26	c.76 others(37): Show c.7604_*7605insTATATATATATATGTATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding		4982		chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842903	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04184.hp2 NA20905.hp1 HG03831.hp1 HG04184.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0043 a0001c0002t0001g0082 a0001c0002t0001g0083	3	356	0.0084	26	c.354 others(43): Show c.3549-848_3549-847insTATATATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842907	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG03098.hp1 HG03139.hp2 HG01168.hp1 HG03098.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0015t0003 a0001c0001t0001 a0001c0001t0003 a0001c0015t0003	a0001c0001t0001g0102 a0001c0001t0003g0171 a0001c0015t0003g0157 a0001c0001t0001g0102 a0001c0001t0003g0171 a0001c0015t0003g0157	3	356	0.0084	26	c.354 others(43): Show c.3549-852_3549-851insTATATATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01943.hp1 HG02040.hp2 others(4): Show HG01257.hp1 HG01943.hp1 HG02040.hp2 HG02922.hp2 HG03239.hp2 HG03579.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0013t0001	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0046 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0002g0248 a0001c0001t0007g0110 a0001c0013t0001g0060	7	356	0.0197	26	c.354 others(43): Show c.3549-879_3549-854dupTATATATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19240.hp2 HG03139.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0081 a0001c0001t0001g0003 a0001c0001t0001g0081	2	356	0.0056	26	c.354 others(43): Show c.3549-854_3549-853insCATATATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842911	A A	ATATATAT others(19): Show ATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	356	0.0028	26	c.354 others(43): Show c.3549-856_3549-855insCACATATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39923638	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01109.hp2 NA20805.hp2 HG01069.hp2 HG01109.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0268 a0001c0001t0002g0276 a0001c0001t0002g0174 a0001c0001t0002g0268 a0001c0001t0002g0276	3	356	0.0084	26	c.528 others(41): Show c.528-916_528-891dupGTGTGTGTGTGTGTGTGTGTGTGTGT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	5/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39929519	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	356	0.0028	26	c.139 others(43): Show c.139-1381_139-1356dupTATATATATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAGTTTTGT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18973.hp2 NA18949.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0123 a0001c0002t0003g0143 a0001c0002t0003g0123 a0001c0002t0003g0143	2	356	0.0056	26	c.139 others(43): Show c.139-2083_139-2082insACAAAACTTTTTTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAGTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0140 a0001c0002t0010g0164 a0001c0002t0010g0140 a0001c0002t0010g0164	2	356	0.0056	26	c.139 others(43): Show c.139-2083_139-2082insAAAAAACTTTTTTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655359	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04184.hp1 NA18971.hp2 others(2): Show HG02698.hp2 HG04184.hp1 NA18971.hp2 NA18978.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0153 a0001c0001t0002g0168 a0001c0001t0002g0184 others(2): Show a0001c0001t0002g0153 a0001c0001t0002g0168 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0019g0195	5	334	0.0150	26	c.313 others(43): Show c.313-2864_313-2863insATATATATATATATATATATATATAT	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(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp2 HG03471.hp1 others(1): Show HG03098.hp1 HG03130.hp2 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0011 a0001c0001t0008 a0001c0002t0011	a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0306 others(1): Show a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0306 a0001c0002t0011g0220	4	334	0.0120	26	c.224 others(45): Show c.2248-1183_2248-1158dupCACACACACACACACACACACACACA	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(19): Show TTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00642.hp2 others(8): Show HG00099.hp1 HG00323.hp2 HG00642.hp2 HG01074.hp1 HG01109.hp1 HG02074.hp2 HG02451.hp1 HG03130.hp2 NA18906.hp1 NA18990.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0039 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0095 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0207 a0001c0001t0003g0157	11	416	0.0264	26	c.-46 others(37): Show c.-4633_-4632insTATATATATATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01074.hp2 HG02155.hp2 others(14): Show HG00544.hp1 HG01074.hp2 HG02155.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG03017.hp1 NA18945.hp1 NA18946.hp2 NA18982.hp1 NA18982.hp2 NA18993.hp1 NA19009.hp1 NA19010.hp1 NA19068.hp1 NA19075.hp1 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0005 a0006c0007t0001 a0001c0001t0001 a0001c0001t0005 a0006c0007t0001	a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0070 others(13): Show a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0110 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0005g0254 a0001c0001t0005g0386 a0006c0007t0001g0133	17	416	0.0409	26	c.163 others(41): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107173572	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02886.hp1 others(2): Show HG02145.hp1 HG02451.hp1 HG02886.hp1 HG02965.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0149 a0001c0001t0001g0229 a0001c0001t0003g0123 others(2): Show a0001c0001t0001g0149 a0001c0001t0001g0229 a0001c0001t0003g0123 a0001c0001t0007g0157 a0001c0001t0007g0234	5	260	0.0192	26	c.104 others(47): Show c.1042-18796_1042-18795insTTTTTTTTTTTTTTTTTTTTTTTT TT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225153	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0260 a0001c0001t0018g0260	1	260	0.0039	26	c.703 others(45): Show c.703-12872_703-12871insAATATATATATATATATATATATATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18975.hp2 HG02129.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0002g0136 a0001c0001t0001g0135 a0001c0001t0002g0136	2	260	0.0077	26	c.296 others(45): Show c.296+29088_296+29089insATATATATATATATTTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp2 HG02738.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0118 a0001c0001t0002g0074 a0001c0001t0001g0118 a0001c0001t0002g0074	2	260	0.0077	26	c.296 others(45): Show c.296+29088_296+29089insATATATATATATATATATATTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107449576	T T	TAGCATAA others(19): Show TAGCATAATGTCTTCCATATTTCACTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	260	0.0039	26	c.296 others(43): Show c.296+9413_296+9414insGAGTGAAATATGGAAGACATTATGCT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107458412	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	260	0.0039	26	c.296 others(41): Show c.296+577_296+578insTTTTTTTTTTTTTTTTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984476	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03654.hp1 HG03688.hp2 others(8): Show HG02040.hp1 HG03654.hp1 HG03688.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18947.hp1 NA18962.hp1 NA18964.hp2 NA20129.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0019 a0002c0007t0001 a0002c0002t0001 a0002c0002t0019 a0002c0007t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0046 others(8): Show a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0046 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0091 a0002c0002t0001g0174 a0002c0002t0019g0045 a0002c0007t0001g0099	11	279	0.0394	26	c.21+ others(41): Show c.21+9276_21+9277insATATATATATATATATATATATATAT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	216	0.0046	26	c.-36 others(47): Show c.-361+49917_-361+49918insATATATATATATATATTTTTTTTT TT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results