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
PAGE2B_chrX_55070030_55083909	55082068	C C	CAGCACAC others(39): Show CAGCACACTGTTTCCTACAATGGTTGAACTAATTTAAGTTCTACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	323	0.0031	46	c.32 others(57): Show c.3270_*3271insAGCACACTGTTTCCTACAATGGTTGAACTAATTT AAGTTCTACCAA	PAGE2B	ENSG00000238269.9	transcript	ENST00000374971.2	protein_coding		3160		chrX	TogoVar
PAK2_chr3_196734857_196837647	196811293	C C	CTCCCTTC others(39): Show CTCCCTTCCTTCCCTTCCTTTCCTTCCCTTCCCTTCCTTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp2 HG02622.hp1 others(2): Show HG01255.hp1 HG02055.hp2 HG02622.hp1 HG02647.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017	a0001c0001t0005g0059 a0001c0001t0007g0071 a0001c0001t0017g0100 others(2): Show a0001c0001t0005g0059 a0001c0001t0007g0071 a0001c0001t0017g0100 a0001c0001t0017g0101 a0001c0001t0017g0103	5	88	0.0568	46	c.773 others(61): Show c.773+645_773+646insTCCTTCCCTTCCTTTCCTTCCCTTCCCTTC CTTCCTTCCCTTCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATAGATA others(39): Show GATAGATAGATAGATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	84	0.0119	46	c.909 others(65): Show c.909-42685_909-42684insGATAGATAGATATATATATATATATA TATATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793140	T T	TATATATG others(39): Show TATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0118 a0001c0004t0002g0118	1	153	0.0065	46	c.196 others(67): Show c.1964+81224_1964+81269dupGTGTGCATATATATACATATATAT GTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168875042	T T	TCATACTA others(39): Show TCATACTATTTGGAAATACATAGTATTTCCAAAATACTATGGAAATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02258.hp2 HG02486.hp2 others(6): Show HG01123.hp1 HG02258.hp2 HG02486.hp2 HG02922.hp2 HG03139.hp1 HG03486.hp1 HG03516.hp1 NA19030.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0007 a0001c0002t0010 a0002c0006t0007 a0001c0002t0007 a0001c0002t0010 a0002c0006t0007	a0001c0002t0007g0005 a0001c0002t0007g0050 a0001c0002t0007g0056 others(6): Show a0001c0002t0007g0005 a0001c0002t0007g0050 a0001c0002t0007g0056 a0001c0002t0010g0093 a0001c0002t0010g0094 a0001c0002t0010g0099 a0001c0002t0010g0106 a0002c0006t0007g0033 a0002c0006t0007g0043	9	154	0.0584	46	c.196 others(67): Show c.1965-15826_1965-15781dupTTTGGAAATACATAGTATTTCCAA AATACTATGGAAATACATACTA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02895.hp1 HG01433.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0006t0002 a0001c0001t0005 a0001c0006t0002	a0001c0001t0005g0107 a0001c0006t0002g0171 a0001c0001t0005g0107 a0001c0006t0002g0171	2	62	0.0323	46	c.583 others(65): Show c.583-59616_583-59615insTATATATATATATATATATATATATA TATATATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0204 a0001c0001t0036g0204	1	129	0.0078	46	c.583 others(61): Show c.583-962_583-961insAAAAAAAAAAAATATATATATATATATATA TATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(39): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0017 a0001c0001t0010g0017	1	129	0.0078	46	c.583 others(61): Show c.583-962_583-961insAAAAAAAAAATATATATATATATATATATA TATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(39): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	129	0.0078	46	c.583 others(61): Show c.583-962_583-961insAAAAAAAATATATATATATATATATATATA TATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	194	0.0052	46	c.28- others(61): Show c.28-3087_28-3086insATATATATATATATATATATATATATATAT ATATATGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0096 a0001c0002t0006g0096	1	194	0.0052	46	c.28- others(61): Show c.28-3087_28-3086insATATATATATATATATATATATATATATAT ATGTGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp1 HG02451.hp1 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0020 a0002c0004t0064 a0001c0001t0020 a0002c0004t0064	a0001c0001t0020g0162 a0002c0004t0064g0173 a0001c0001t0020g0162 a0002c0004t0064g0173	2	195	0.0103	46	c.28- others(61): Show c.28-3087_28-3086insATATATATATATATATATATATATGTGTGT GTGTGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300937	C C	CTTCCTCT others(39): Show CTTCCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0199 a0002c0002t0024g0199	1	170	0.0059	46	c.-27 others(65): Show c.-277+1882_-277+1883insTCCTCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	204553663	T T	TATATATA others(39): Show TATATATATATATATACATATATATGGATATATATTTATATATATCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0021 a0002c0004t0021	a0002c0004t0021g0051 a0002c0004t0021g0051	1	54	0.0185	46	c.120 others(63): Show c.120+7559_120+7560insCATATATATGGATATATATTTATATATA TCCATATATATATATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARP16_chr15_65253099_65291883	65289672	C C	CTCGATTT others(39): Show CTCGATTTTCTTCCTTACTAATAAGTGTCTTTTGTGGCATCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	314	0.0032	46	c.-32 others(57): Show c.-3247_-3246insAAAGAAGATGCCACAAAAGACACTTATTAGTAAG GAAGAAAATCGA	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding		2790		chr15	TogoVar
PATJ_chr1_61737480_62168915	61952253	T T	TGAGAGAG others(39): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0020 a0001c0022t0020	a0001c0022t0020g0068 a0001c0022t0020g0068	1	42	0.0238	46	c.367 others(67): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAWR_chr12_79579879_79695964	79639879	C C	CCCATTCC others(39): Show CCCATTCCCATTCCCATTCCCATTCCCATTCCCATTCCTATTCCATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0242 a0002c0002t0005g0242	1	238	0.0042	46	c.517 others(65): Show c.517-18673_517-18672insAATGGAATAGGAATGGGAATGGGAAT GGGAATGGGAATGGGAATGG	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79639881	T T	TATTCCTA others(39): Show TATTCCTATTCCTATTCCTATTCCTATTCCTATTCCCATTCCATTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	153	0.0065	46	c.517 others(65): Show c.517-18675_517-18674insGGAATGGAATGGGAATAGGAATAGGA ATAGGAATAGGAATAGGAAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PCBP3_chr21_45638725_45947450	45815226	A A	ATGAGTGG others(39): Show ATGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGGTGAGTGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	81	0.0123	46	c.-12 others(67): Show c.-125-34722_-125-34721insGTGAGTGAGTGGTGAGTGGTGAGT GGTGAGTGGTGAGTGGTGAGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45871080	A A	AGTGCAGC others(39): Show AGTGCAGCCCAGTGCCCAGGAGAGATGGGAACCCCCCAGGGAAGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	288	0.0035	46	c.10+ others(63): Show c.10+21047_10+21092dupCAGGAGAGATGGGAACCCCCCAGGGAAG GCCGTGCAGCCCAGTGCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTATAT others(39): Show GTGTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	234	0.0043	46	c.543 others(63): Show c.543+2376_543+2377insGTATATATATATATATATATATATATAT ATATATATATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTGTAT others(39): Show GTGTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	234	0.0043	46	c.543 others(63): Show c.543+2376_543+2377insGTGTATATATATATATATATATATATAT ATATATATATATATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH10_chr4_133144294_133199700	133197662	T T	TGTCCTTT others(39): Show TGTCCTTTCTGGGGTGGGGGTGGGAGTAGGGGTGGTGACTTAAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	380	0.0026	46	c.75 others(57): Show c.7502_*7503insGTCCTTTCTGGGGTGGGGGTGGGAGTAGGGGTGG TGACTTAAGGAG	PCDH10	ENSG00000138650.9	transcript	ENST00000264360.7	protein_coding		2963		chr4	TogoVar
PCDH11X_chrX_91774375_92628230	91950589	G G	GATATATA others(39): Show GATATATATATATAAATGTGATATATATATATAAATGTGATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03453.hp2 NA18959.hp1 others(1): Show HG02056.hp1 HG03453.hp2 NA18959.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0004c0007	a0001c0001t0017 a0001c0002t0002 a0001c0008t0002 others(1): Show a0001c0001t0017 a0001c0002t0002 a0001c0008t0002 a0004c0007t0001	a0001c0001t0017g0034 a0001c0002t0002g0012 a0001c0008t0002g0039 others(1): Show a0001c0001t0017g0034 a0001c0002t0002g0012 a0001c0008t0002g0039 a0004c0007t0001g0032	4	116	0.0345	46	c.303 others(67): Show c.3033+71329_3033+71330insAATGTGATATATATATATAAATGT GATATATATATATATATATATA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92147837	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0028 a0001c0009t0028	a0001c0009t0028g0047 a0001c0009t0028g0047	1	143	0.0070	46	c.303 others(67): Show c.3034-53521_3034-53520insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	53855899	G G	GATGTGTA others(39): Show GATGTGTATATATATATGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0034 a0002c0002t0023g0034	1	90	0.0111	46	c.380 others(65): Show c.3806+1275_3806+1276insATATATATATATATATATATATATAT ATACATATATATATACACAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53855904	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0025 a0025	a0025c0027 a0025c0027	a0025c0027t0001 a0025c0027t0001	a0025c0027t0001g0080 a0025c0027t0001g0080	1	22	0.0455	46	c.380 others(65): Show c.3806+1270_3806+1271insTATATATATATATATATATATATATA TATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53855920	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0044 a0006c0006t0006g0044	1	98	0.0102	46	c.380 others(65): Show c.3806+1254_3806+1255insCACACACACATATATATATATATATA TATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	28/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888311	T T	TATATATA others(39): Show TATATATACGTATATATATGTACGTACATATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp1 HG03041.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0009 a0001c0001t0003 a0002c0002t0009	a0001c0001t0003g0098 a0002c0002t0009g0023 a0001c0001t0003g0098 a0002c0002t0009g0023	2	50	0.0400	46	c.350 others(67): Show c.3501+14931_3501+14932insGTATATATACGTATATATATGTAC GTACATATATATACGTATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	53888311	T T	TATATATA others(39): Show TATATATATATGTATATGTATATATATACGTATATATATGTATGTAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02615.hp2 HG02602.hp1 HG02615.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0008 a0005c0005t0002 a0001c0001t0008 a0005c0005t0002	a0001c0001t0008g0003 a0005c0005t0002g0093 a0001c0001t0008g0003 a0005c0005t0002g0093	2	50	0.0400	46	c.350 others(67): Show c.3501+14931_3501+14932insGTACATACATATATATACGTATAT ATATACATATACATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	26/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53855899	G G	GATGTGTA others(39): Show GATGTGTATATATATATGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0031 a0002c0002t0009g0031	1	84	0.0119	46	c.380 others(65): Show c.3806+1275_3806+1276insATATATATATATATATATATATATAT ATACATATATATATACACAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	28/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53855920	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0041 a0006c0008t0001g0041	1	90	0.0111	46	c.380 others(65): Show c.3806+1254_3806+1255insCACACACACATATATATATATATATA TATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	28/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888311	T T	TATATATA others(39): Show TATATATACGTATATATATGTACGTACATATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03041.hp1 HG03209.hp1	a0001 a0021 a0001 a0021	a0001c0007 a0021c0011 a0001c0007 a0021c0011	a0001c0007t0001 a0021c0011t0001 a0001c0007t0001 a0021c0011t0001	a0001c0007t0001g0090 a0021c0011t0001g0078 a0001c0007t0001g0090 a0021c0011t0001g0078	2	44	0.0455	46	c.350 others(67): Show c.3501+14931_3501+14932insGTATATATACGTATATATATGTAC GTACATATATATACGTATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	53888311	T T	TATATATA others(39): Show TATATATATATGTATATGTATATATATACGTATATATATGTATGTAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02615.hp2 HG02602.hp1 HG02615.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0034 a0001c0001 a0005c0034	a0001c0001t0001 a0005c0034t0001 a0001c0001t0001 a0005c0034t0001	a0001c0001t0001g0003 a0005c0034t0001g0085 a0001c0001t0001g0003 a0005c0034t0001g0085	2	44	0.0455	46	c.350 others(67): Show c.3501+14931_3501+14932insGTACATACATATATATACGTATAT ATATACATATACATATATATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	26/32			chr10	TogoVar
PCLO_chr7_82749012_83167884	83096877	A A	AATATATT others(39): Show AATATATTATATAATATAAATATATATAAAAATATATTATATAATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19043.hp1 HG01081.hp2 NA19043.hp1	a0013 a0050 a0013 a0050	a0013c0098 a0050c0045 a0013c0098 a0050c0045	a0013c0098t0002 a0050c0045t0008 a0013c0098t0002 a0050c0045t0008	a0013c0098t0002g0082 a0050c0045t0008g0080 a0013c0098t0002g0082 a0050c0045t0008g0080	2	179	0.0112	46	c.330 others(67): Show c.3300+37372_3300+37373insATATTATATAATATATTTTTATAT ATATTTATATTATATAATATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCNT_chr21_46319156_46450769	46423700	G G	GGAGGGGG others(39): Show GGAGGGGGAGGGGAGAGGGGAGGAGGAGGAAGAGAAGGGAGGGGGAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp1 HG01192.hp1 others(1): Show HG01069.hp1 HG01106.hp1 HG01192.hp1 NA20805.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0004 a0013c0014t0004	a0013c0014t0004g0328 a0013c0014t0004g0329 a0013c0014t0004g0330 others(1): Show a0013c0014t0004g0328 a0013c0014t0004g0329 a0013c0014t0004g0330 a0013c0014t0004g0331	4	330	0.0121	46	c.717 others(65): Show c.7179+1585_7179+1586insGGGAGAGGGGAGGAGGAGGAAGAGAA GGGAGGGGGATGAGGGGGAG	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	32/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK5_chr9_75885673_76367975	76351519	A A	AGAAGAAG others(39): Show AGAAGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0003 a0001c0063t0003	a0001c0063t0003g0066 a0001c0063t0003g0066	1	148	0.0068	46	c.506 others(63): Show c.5067+594_5067+595insGAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0023 a0001c0007t0023	a0001c0007t0023g0404 a0001c0007t0023g0404	1	167	0.0060	46	c.153 others(65): Show c.1534+3085_1534+3086insTATATATATATATATACACACACACA CACACACACACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(39): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02738.hp2 HG02148.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0044 a0001c0001t0002g0001 a0001c0001t0002g0044	2	273	0.0073	46	c.13 others(57): Show c.1379_*1380insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTC	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding		381		chr5	TogoVar
PC_chr11_66843420_66963383	66959935	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	167	0.0060	46	c.-18 others(57): Show c.-1842_-1841insAAAAAAAAAAAAAAAAAATATATATATATATATA TATATATATATA	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding		1553		chr11	TogoVar
PDCD7_chr15_65112379_65138808	65132124	G G	GTGTGTAT others(39): Show GTGTGTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	57	0.0175	46	c.870 others(61): Show c.870+787_870+788insTATATATATATATATATATATATATATATA TATATATATATACACA	PDCD7	ENSG00000090470.15	transcript	ENST00000204549.9	protein_coding	1/4			chr15	TogoVar
PDE3B_chr11_14638804_14877044	14749899	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG01106.hp2 HG00323.hp1 HG00673.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0001g0106 a0001c0001t0002g0289 a0001c0001t0001g0021 a0001c0001t0001g0106 a0001c0001t0002g0289	3	85	0.0353	46	c.979 others(65): Show c.979-22024_979-22023insATATATATATATATATATATATATAT ATATATATATATATATATAT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE6A_chr5_149852953_149949793	149900375	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0092 a0001c0001t0022g0092	1	8	0.1250	46	c.111 others(63): Show c.1114-852_1114-851insTATATATATATATATATATATATATATA TATATATATATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21			chr5	TogoVar
PDE9A_chr21_42648621_42780509	42653539	A A	AGGGGGGA others(39): Show AGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp2 HG02735.hp1 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0310 a0001c0002t0001g0318 a0001c0002t0001g0310 a0001c0002t0001g0318	2	87	0.0230	46	c.-27 others(55): Show c.-276_-275insGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGG GGAGGGGGAG	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding		81		chr21	TogoVar
PDIA2_chr16_278164_292215	285839	T T	TCCCAACC others(39): Show TCCCAACCCGGCGGTTCTCCCAACCCCAACCCGGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0112 a0001c0019t0001g0112	1	426	0.0023	46	c.111 others(63): Show c.1119+142_1119+187dupCCCGGCGGTTCTCCCAACCCCAACCCGG CGGTTCTCCCAACCCCAA	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285966	T T	TCCCAACC others(39): Show TCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	411	0.0024	46	c.111 others(63): Show c.1119+289_1119+290insAACCCCGCGGTTCTCCCAACCCCAACCC CGCGGTTCTCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	11	0.0909	46	c.609 others(63): Show c.609+1101_609+1102insATATATATATATATATATATATATATAT ATATATATATATATATAT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDLIM7_chr5_177478394_177502604	177480968	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	407	0.0025	46	c.26 others(57): Show c.2675_*2676insAAAAAAAAAATATATATATATATATATATATATA TATATATATATA	PDLIM7	ENSG00000196923.14	transcript	ENST00000355841.7	protein_coding		2425		chr5	TogoVar
PDPN_chr1_13578832_13622957	13588994	A A	AAATTGAA others(39): Show AAATTGAATAGTGCTACTATTCAATAAATTGAATAGTGCTACTATTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03098.hp1 HG01891.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0057 a0001c0001t0003 a0001c0001t0057	a0001c0001t0003g0187 a0001c0001t0057g0114 a0001c0001t0003g0187 a0001c0001t0057g0114	2	438	0.0046	46	c.67+ others(61): Show c.67+4897_67+4898insTGAATAGTGCTACTATTCAATAAATTGAAT AGTGCTACTATTCAAT	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	117	0.0085	46	c.313 others(63): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar

Search by Variant

Search

Search Results