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
PTGES3L_chr17_42963103_42985080	42970674	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0033 a0003c0003t0001g0033	1	336	0.0030	22	c.379 others(37): Show c.379-333_379-332insTGTGTGTGTGTGTGTGTGTGTG	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding	5/6			chr17	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	372	0.0027	22	c.3-1 others(35): Show c.3-1782_3-1761dupTTTTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGES3_chr12_56658349_56693284	56683473	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG02258.hp2 HG01515.hp2 HG01517.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0094 a0001c0001t0001g0001 a0001c0001t0001g0094	3	372	0.0081	22	c.2+4 others(35): Show c.2+4503_2+4524dupTTTTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGFR_chr1_78485974_78545701	78532390	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02083.hp1 HG02155.hp2 others(9): Show HG01516.hp1 HG02083.hp1 HG02155.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03831.hp2 NA18989.hp1 NA19060.hp1 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0109 a0001c0001t0001g0147 a0001c0001t0001g0152 others(8): Show a0001c0001t0001g0109 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0183 a0001c0001t0001g0213 a0001c0001t0001g0228 a0001c0001t0001g0244 a0001c0001t0001g0275 a0003c0005t0001g0024	12	386	0.0311	22	c.799 others(39): Show c.799-4009_799-4008insATATATATATATATGTATATAT	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGR1_chr9_111557567_111604647	111560974	T T	TATATAGA others(15): Show TATATAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	408	0.0025	22	c.21 others(33): Show c.2146_*2147insCTCTCTCTCTCTCTCTCTATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1592		chr9	TogoVar
PTGR1_chr9_111557567_111604647	111560974	T T	TATATATA others(15): Show TATATATATATATAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	408	0.0025	22	c.21 others(33): Show c.2146_*2147insCTCTCTCTCTATATATATATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1592		chr9	TogoVar
PTGR1_chr9_111557567_111604647	111561106	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	408	0.0025	22	c.20 others(33): Show c.2014_*2015insCTCTCTCTCTCTCTCTCTCTCT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1460		chr9	TogoVar
PTGR1_chr9_111557567_111604647	111561110	T T	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	408	0.0025	22	c.20 others(33): Show c.2010_*2011insCTCTCTCTCTCTCTCTCTCTAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1456		chr9	TogoVar
PTH2R_chr2_208401792_208499506	208408719	G G	GGAAAGAG others(15): Show GGAAAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01099.hp1 others(4): Show HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01516.hp2 HG02630.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0003t0009 a0001c0001t0001 a0001c0003t0003 a0001c0003t0009	a0001c0001t0001g0265 a0001c0003t0003g0015 a0001c0003t0003g0150 others(3): Show a0001c0001t0001g0265 a0001c0003t0003g0015 a0001c0003t0003g0150 a0001c0003t0003g0266 a0001c0003t0003g0267 a0001c0003t0009g0151	7	294	0.0238	22	c.75+ others(37): Show c.75+1621_75+1622insGAGAAAGAGAGAGAGAGAGAGA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTH2R_chr2_208401792_208499506	208408724	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0253	1	294	0.0034	22	c.75+ others(37): Show c.75+1621_75+1622insGAGAGAAAGAGAGAGAGAGAGA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTK2B_chr8_27320552_27464386	27350975	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01496.hp2 HG02965.hp1 others(2): Show HG01069.hp1 HG01496.hp2 HG02965.hp1 HG06807.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0010t0003	a0001c0001t0003g0027 a0001c0001t0003g0042 a0001c0001t0005g0060 others(2): Show a0001c0001t0003g0027 a0001c0001t0003g0042 a0001c0001t0005g0060 a0001c0002t0001g0226 a0001c0010t0003g0297	5	328	0.0152	22	c.-38 others(41): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAAA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27405035	C C	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp1 HG01099.hp1 others(9): Show HG00408.hp1 HG01074.hp1 HG01099.hp1 HG01256.hp1 HG01256.hp2 HG02622.hp2 HG02976.hp2 HG04199.hp1 NA18906.hp2 NA18947.hp1 NA18978.hp2 NA18991.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0014 a0001c0001 a0002c0005 a0003c0014	a0001c0001t0003 a0002c0005t0001 a0003c0014t0003 a0001c0001t0003 a0002c0005t0001 a0003c0014t0003	a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0025 others(9): Show a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0025 a0001c0001t0003g0036 a0001c0001t0003g0042 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0196 a0002c0005t0001g0194 a0002c0005t0001g0202 a0003c0014t0003g0061	12	328	0.0366	22	c.204 others(39): Show c.204+7260_204+7281dupCTCTCTCTCTCTCTCTCTCTCT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2_chr8_140652900_141006282	140697416	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0224 a0001c0003t0001g0224	1	290	0.0035	22	c.262 others(41): Show c.2622+3453_2622+3474dupCACACACACACACACACACACA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	29/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	141000087	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03017.hp1 HG03225.hp2 others(2): Show HG01975.hp2 HG03017.hp1 HG03225.hp2 NA18967.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0012 a0001c0003t0001 a0001c0001t0001 a0001c0001t0012 a0001c0003t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0012g0008 others(2): Show a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0012g0008 a0001c0003t0001g0242 a0001c0003t0001g0243	5	290	0.0172	22	c.-12 others(41): Show c.-122+1016_-122+1037dupTGTGTGTGTGTGTGTGTGTGTG	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19080.hp1 NA19004.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0193 a0001c0001t0001g0068 a0001c0001t0001g0193	2	272	0.0074	22	c.272 others(41): Show c.2722-1452_2722-1451insATATATATATATATTTTTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	272	0.0037	22	c.272 others(41): Show c.2722-1452_2722-1451insATATATATATATTTTTTTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43163591	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	272	0.0037	22	c.27 others(33): Show c.2710_*2711insAAAAAAAAAAAAAAAAAAAAAA	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding		1877		chr6	TogoVar
PTMA_chr2_231703525_231718551	231705109	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	392	0.0026	22	c.-35 others(33): Show c.-3598_-3597insAAAAAAAAAAAAAAAAAAAAAA	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		3415		chr2	TogoVar
PTN_chr7_137222341_137348733	137269624	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	296	0.0034	22	c.-1- others(39): Show c.-1-14672_-1-14651dupAAAAAAAAAAAAAAAAAAAAAA	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137280699	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 NA18983.hp1 others(2): Show HG02055.hp2 HG02257.hp2 NA18983.hp1 NA18999.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0209 others(2): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0209 a0001c0001t0002g0176 a0001c0001t0002g0185	5	296	0.0169	22	c.-1- others(39): Show c.-1-25747_-1-25726dupTTTTTTTTTTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	296	0.0034	22	c.-2+ others(39): Show c.-2+19005_-2+19006insATATATTTTTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	296	0.0034	22	c.-2+ others(39): Show c.-2+19005_-2+19006insATATATATATATTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTOV1_chr19_49846159_49865742	49863425	A A	AGCTCAAG others(15): Show AGCTCAAGAATGCGCTAAACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	426	0.0024	22	c.31 others(33): Show c.3146_*3147insGCTCAAGAATGCGCTAAACTTC	PTOV1	ENSG00000104960.15	transcript	ENST00000391842.6	protein_coding		2684		chr19	TogoVar
PTPN12_chr7_77532295_77645069	77564746	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0222	1	310	0.0032	22	c.100 others(39): Show c.100-6323_100-6302dupTTTTTTTTTTTTTTTTTTTTTT	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77582084	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	310	0.0032	22	c.285 others(37): Show c.285+588_285+609dupTTTTTTTTTTTTTTTTTTTTTT	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625468	G G	GCGCTCTC others(15): Show GCGCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	310	0.0032	22	c.102 others(41): Show c.1026-1236_1026-1235insGCTCTCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(15): Show GCTCGCGCGCGCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	310	0.0032	22	c.102 others(41): Show c.1026-1230_1026-1229insGCGCGCGCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(15): Show GCTCGCGCGCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	310	0.0032	22	c.102 others(41): Show c.1026-1230_1026-1229insGCGCGCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(15): Show GCTCGCGCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18964.hp1 NA19054.hp1 HG03710.hp2 NA18964.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0106 a0002c0002t0001g0125 a0002c0002t0004g0052 a0002c0002t0001g0106 a0002c0002t0001g0125 a0002c0002t0004g0052	3	310	0.0097	22	c.102 others(41): Show c.1026-1230_1026-1229insGCGCTCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCTCTC others(15): Show GCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0199 a0003c0003t0001g0199	1	310	0.0032	22	c.102 others(41): Show c.1026-1203_1026-1182dupTCTCTCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625520	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02451.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0138 a0001c0001t0001g0140	2	310	0.0065	22	c.102 others(41): Show c.1026-1182_1026-1181insTCTCTCTCTCTCTCTCTCACTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN13_chr4_86589315_86820161	86613633	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0021 a0021	a0021c0016 a0021c0016	a0021c0016t0006 a0021c0016t0006	a0021c0016t0006g0198 a0021c0016t0006g0198	1	198	0.0051	22	c.-6+ others(39): Show c.-6+18862_-6+18863insAAAAAAAAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86705333	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01346.hp1 HG01192.hp1 HG01346.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0002 a0004c0005t0004g0003 a0004c0005t0004g0002 a0004c0005t0004g0003	2	198	0.0101	22	c.119 others(41): Show c.1195+3547_1195+3548insAAAAAAAAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86718455	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01516.hp1 HG00738.hp2 HG01099.hp1 HG01516.hp1	a0004 a0004	a0004c0005 a0004c0029 a0004c0005 a0004c0029	a0004c0005t0005 a0004c0029t0005 a0004c0005t0005 a0004c0029t0005	a0004c0005t0005g0076 a0004c0005t0005g0084 a0004c0029t0005g0077 a0004c0005t0005g0076 a0004c0005t0005g0084 a0004c0029t0005g0077	3	198	0.0152	22	c.138 others(41): Show c.1385+1351_1385+1352insTTTTTTTTTTTTTTTTTTTTTT	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	9/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86757762	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG03041.hp2 HG02451.hp1 HG02559.hp1 HG03041.hp2	a0003 a0006 a0003 a0006	a0003c0006 a0006c0026 a0003c0006 a0006c0026	a0003c0006t0003 a0006c0026t0003 a0003c0006t0003 a0006c0026t0003	a0003c0006t0003g0021 a0003c0006t0003g0023 a0006c0026t0003g0020 a0003c0006t0003g0021 a0003c0006t0003g0023 a0006c0026t0003g0020	3	198	0.0152	22	c.322 others(39): Show c.3224-482_3224-481insAAAAAAAAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86761139	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	198	0.0051	22	c.355 others(41): Show c.3554-1578_3554-1557dupTATATATATATATATATATATA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN14_chr1_214343700_214556602	214364766	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp2 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0103 a0001c0001t0058 a0001c0001t0103	a0001c0001t0058g0009 a0001c0001t0103g0089 a0001c0001t0058g0009 a0001c0001t0103g0089	2	272	0.0074	22	c.327 others(38): Show c.3272-113_3272-92dupACACACACACACACACACACAC	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	17/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214395588	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0044 a0001c0002t0006g0044	1	272	0.0037	22	c.759 others(37): Show c.759-624_759-603dupGTGTGTGTGTGTGTGTGTGTGT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	8/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402437	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG03834.hp2 HG02451.hp1 HG02572.hp1 HG03834.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0006 a0012c0023 a0001c0001 a0001c0006 a0012c0023	a0001c0001t0027 a0001c0006t0180 a0012c0023t0085 a0001c0001t0027 a0001c0006t0180 a0012c0023t0085	a0001c0001t0027g0217 a0001c0006t0180g0272 a0012c0023t0085g0080 a0001c0001t0027g0217 a0001c0006t0180g0272 a0012c0023t0085g0080	3	272	0.0110	22	c.581 others(37): Show c.581+424_581+445dupTTTTTTTTTTTTTTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214454925	T T	TCAAATTC others(15): Show TCAAATTCAGTTCTCTAGCAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0002 a0001c0001t0008g0002	1	272	0.0037	22	c.175 others(39): Show c.175-2973_175-2952dupTCCTGCTAGAGAACTGAATTTG	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	2/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214465035	G G	GCCCCCCC others(15): Show GCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0173 a0001c0001t0173	a0001c0001t0173g0257 a0001c0001t0173g0257	1	272	0.0037	22	c.-15 others(37): Show c.-154-79_-154-78insGGGGGGGGGGGGGGGGGGGGGG	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0163 a0001c0001t0060g0163	1	272	0.0037	22	c.-15 others(43): Show c.-155+31117_-155+31118insATATATATATATATATATATTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0162 a0001c0001t0069g0162	1	272	0.0037	22	c.-15 others(43): Show c.-155+31117_-155+31118insATATATATATATATATATATAT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214531499	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18949.hp2 HG02135.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0039 a0001c0002t0001g0164 a0001c0001t0004g0039 a0001c0002t0001g0164	2	272	0.0074	22	c.-15 others(43): Show c.-155+19662_-155+19683dupGTGTGTGTGTGTGTGTGTGTGT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214555709	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0002 a0001c0001t0008g0002	1	272	0.0037	22	c.-46 others(33): Show c.-4682_-4681insCACACACACACACACACACACA	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding		4108		chr1	TogoVar
PTPN18_chr2_130351056_130380405	130361516	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0219 a0002c0004t0009g0219	1	380	0.0026	22	c.414 others(39): Show c.414+1872_414+1893dupCTTTCTTTCTTTCTTTCTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN1_chr20_50505383_50590241	50524569	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0279 a0001c0002t0001g0279	1	336	0.0030	22	c.63+ others(39): Show c.63+13983_63+14004dupTTTTTTTTTTTTTTTTTTTTTT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN1_chr20_50505383_50590241	50554380	A A	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0322 a0001c0001t0008g0322	1	336	0.0030	22	c.64- others(37): Show c.64-6976_64-6955dupTCTCTCTCTCTCTCTCTCTCTC	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN20_chr10_46906428_47007322	46923606	T T	TGATTATT others(15): Show TGATTATTGTAGCTTTATAGTAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	312	0.0032	22	c.-12 others(41): Show c.-123-8770_-123-8769insATTATTGTAGCTTTATAGTAAG	PTPN20	ENSG00000204179.11	transcript	ENST00000374339.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPN20_chr10_46906428_47007322	46947212	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	312	0.0032	22	c.340 others(37): Show c.340+539_340+560dupATATATATATATATATATATAT	PTPN20	ENSG00000204179.11	transcript	ENST00000374339.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results