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
PSMD4_chr1_151249734_151272479	151251260	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	40	0.0250	27	c.-35 others(38): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSMD9_chr12_121883790_121923297	121901666	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18999.hp2 NA18978.hp2 NA18999.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0032 a0005c0005t0008g0032	2	66	0.0303	27	c.454 others(44): Show c.454-1339_454-1313dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0338 a0001c0005t0001g0338	1	70	0.0143	27	c.481 others(44): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAAAAAAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	150	0.0067	27	c.366 others(44): Show c.366-1551_366-1550insATATATATATATATATATATATATTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	150	0.0067	27	c.366 others(44): Show c.366-1551_366-1550insATATATATATATATATATTTTTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133570	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	301	0.0033	27	c.366 others(44): Show c.366-1551_366-1550insATATATATATATATATATATATATATA	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6			chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133574	T T	TAATATAT others(20): Show TAATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03486.hp2 HG02486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0147 a0001c0001t0016g0148 a0001c0001t0016g0147 a0001c0001t0016g0148	2	316	0.0063	27	c.366 others(44): Show c.366-1547_366-1546insAATATATATATATATATATATATACAC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6			chr20	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19088.hp1 NA19078.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0114 a0001c0001t0001g0003 a0001c0001t0001g0114	2	82	0.0244	27	c.174 others(44): Show c.174+1096_174+1097insATATATATATATATATATTTTTTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18972.hp2 HG00140.hp1 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0272 a0001c0002t0008g0345 a0001c0002t0001g0272 a0001c0002t0008g0345	2	98	0.0204	27	c.905 others(44): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112232025	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02965.hp1 HG03579.hp1 others(1): Show HG01993.hp1 HG02965.hp1 HG03579.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 a0001c0001t0001 a0001c0001t0006 a0001c0001t0022	a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0006g0213 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0105 a0001c0001t0006g0213 a0001c0001t0022g0247	4	159	0.0252	27	c.102 others(42): Show c.1020+73_1020+74insCTTTCTTTCTTTCTTTCTTTCTTTCTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18966.hp1 NA18945.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0126 a0001c0001t0002g0102 a0001c0001t0002g0126	2	59	0.0339	27	c.802 others(44): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(20): Show ATATATATATATATATATGTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0218 a0001c0003t0004g0218	1	180	0.0056	27	c.-20 others(38): Show c.-2010_-2009insAAAAAAAAACATATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440675	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0020 a0001c0001t0011g0020	1	338	0.0030	27	c.-20 others(38): Show c.-2011_-2010insTATATATATATATATATATATATATAT	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1878		chr7	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03486.hp1 HG03516.hp2 others(3): Show HG02257.hp1 HG03486.hp1 HG03516.hp2 NA18940.hp1 NA18960.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0063 a0001c0002t0001g0109 a0001c0005t0001g0032 others(1): Show a0001c0002t0001g0063 a0001c0002t0001g0109 a0001c0005t0001g0032 a0001c0005t0001g0033	6	162	0.0370	27	c.813 others(42): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTCHD4_chr6_47851673_48116197	47855256	T T	TACATAAG others(20): Show TACATAAGGAATTGCTGTACAATACAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0151 a0001c0001t0015g0151	1	180	0.0056	27	c.23 others(40): Show c.23046_*23047insTCTGTATTGTACAGCAATTCCTTATGT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding		1416		chr6	TogoVar
PTCHD4_chr6_47851673_48116197	48098318	T T	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02572.hp2 HG03486.hp2 HG01106.hp2 HG02572.hp2 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0066 a0001c0002t0059 a0003c0006t0062 a0001c0001t0066 a0001c0002t0059 a0003c0006t0062	a0001c0001t0066g0105 a0001c0002t0059g0103 a0003c0006t0062g0104 a0001c0001t0066g0105 a0001c0002t0059g0103 a0003c0006t0062g0104	3	141	0.0213	27	c.-97 others(48): Show c.-970+12730_-970+12731insGAAGAAGAAGAAGAAGAAGAAGAA GAA	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	1/4			chr6	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	42	0.0238	27	c.3-1 others(40): Show c.3-1787_3-1761dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGIS_chr20_49498874_49573137	49551506	C C	CCCACATC others(20): Show CCCACATCAAGTTGTCCTGTCTTTCTGG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0298 a0001c0003t0003g0298	1	314	0.0032	27	c.75- others(42): Show c.75-1344_75-1318dupCCAGAAAGACAGGACAACTTGATGTGG	PTGIS	ENSG00000124212.6	transcript	ENST00000244043.5	protein_coding	1/9			chr20	TogoVar
PTGIS_chr20_49498874_49573137	49568117	C C	CGCGGGGC others(20): Show CGCGGGGCTGGCGGGGCTGGCGGGGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02280.hp1 others(5): Show HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02886.hp2 HG03239.hp2 HG03486.hp2 NA18967.hp2 NA20129.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0014c0028	a0001c0001t0021 a0001c0001t0036 a0001c0001t0039 others(5): Show a0001c0001t0021 a0001c0001t0036 a0001c0001t0039 a0001c0003t0021 a0001c0004t0022 a0001c0005t0038 a0001c0006t0037 a0014c0028t0022	a0001c0001t0021g0012 a0001c0001t0036g0018 a0001c0001t0039g0011 others(5): Show a0001c0001t0021g0012 a0001c0001t0036g0018 a0001c0001t0039g0011 a0001c0003t0021g0015 a0001c0004t0022g0014 a0001c0005t0038g0017 a0001c0006t0037g0016 a0014c0028t0022g0013	8	196	0.0408	27	c.-2_ others(32): Show c.-2_-1insCAGCCCCGCCAGCCCCGCCAGCCCCGC	PTGIS	ENSG00000124212.6	transcript	ENST00000244043.5	protein_coding	1/10	2		chr20	TogoVar
PTGIS_chr20_49498874_49573137	49568145	G G	GCGGGGCT others(20): Show GCGGGGCTGGCGGGGCTGGCGGGGCTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02735.hp1 HG00642.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0279 a0001c0001t0001g0197 a0001c0001t0001g0279	2	171	0.0117	27	c.-30 others(34): Show c.-30_-29insTCAGCCCCGCCAGCCCCGCCAGCCCCG	PTGIS	ENSG00000124212.6	transcript	ENST00000244043.5	protein_coding		9		chr20	TogoVar
PTGR2_chr14_73846831_73890726	73876483	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00741.hp2 others(11): Show HG00408.hp2 HG00544.hp2 HG00741.hp2 HG01175.hp2 HG02559.hp2 HG02735.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18986.hp1 NA19067.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0036 a0001c0001t0004g0038 others(10): Show a0001c0001t0004g0016 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0049 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0070 a0001c0001t0004g0081	14	212	0.0660	27	c.349 others(42): Show c.349-499_349-498insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTH2R_chr2_208401792_208499506	208408722	A A	AAGAGAGA others(20): Show AAGAGAGAGAGAGAGAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	223	0.0045	27	c.75+ others(42): Show c.75+1621_75+1622insGAGAAGAGAGAGAGAGAGAGAGAGAGA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTH2R_chr2_208401792_208499506	208477916	C C	CTACTACT others(20): Show CTACTACTAGTACTAGCACTACTACTAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0223 a0001c0003t0003g0223	1	291	0.0034	27	c.982 others(44): Show c.982-3151_982-3125dupCTACTAGTACTAGCACTACTACTAGTA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTH2R_chr2_208401792_208499506	208477946	G G	GTACTAGC others(20): Show GTACTAGCACTACTACTAGTACTAGTAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG02015.hp1 others(5): Show HG00438.hp1 HG00621.hp2 HG02015.hp1 HG02027.hp2 HG02523.hp1 NA18955.hp1 NA18978.hp2 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0073 others(5): Show a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0083 a0001c0002t0002g0117 a0001c0002t0002g0128 a0001c0002t0002g0129	8	153	0.0523	27	c.982 others(44): Show c.982-3091_982-3065dupGCACTACTACTAGTACTAGTACTACTA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	211	0.0047	27	c.-38 others(46): Show c.-38+25310_-38+25311insATATATATATATATATATATATATAT A	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27405069	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	326	0.0031	27	c.204 others(44): Show c.204+7281_204+7282insCTCTCTCTCTCTCTCTCTCTCTCTCTC	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30			chr8	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	36	0.0278	27	c.272 others(46): Show c.2722-1452_2722-1451insATATATATATATATATATATTTTTTT T	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTN_chr7_137222341_137348733	137280699	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01255.hp1 HG02258.hp1 others(3): Show HG00323.hp1 HG01255.hp1 HG02258.hp1 HG02809.hp1 HG03017.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0124 others(3): Show a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0002g0005 a0001c0001t0002g0143	6	17	0.3529	27	c.-1- others(44): Show c.-1-25726_-1-25725insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	62	0.0161	27	c.-2+ others(44): Show c.-2+19005_-2+19006insATATATATATATATATATATTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTPN12_chr7_77532295_77645069	77537203	A A	AGGCGGCG others(20): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19079.hp1 NA19079.hp2 others(1): Show NA19003.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0150 a0002c0002t0001g0038 a0002c0002t0001g0089 others(1): Show a0001c0001t0001g0150 a0002c0002t0001g0038 a0002c0002t0001g0089 a0002c0002t0001g0094	4	8	0.5000	27	c.-34 others(36): Show c.-344_-343insGGCGGCGGCGGCGGCGGCGGCGGCGGC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		91		chr7	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0200 a0001c0001t0133g0200	1	72	0.0139	27	c.-15 others(48): Show c.-155+31117_-155+31118insATATATATATATATATATATATAT ATT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN1_chr20_50505383_50590241	50554380	A A	ATTCTCTC others(20): Show ATTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18974.hp1 HG03579.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0303 a0001c0001t0001g0210 a0001c0001t0001g0303	2	125	0.0160	27	c.64- others(42): Show c.64-6982_64-6981insTCTCTCTCTCTCTCTCTCTCTCTCTCT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN1_chr20_50505383_50590241	50569511	C C	CCTGTGTA others(20): Show CCTGTGTAGACTGTCCTGTGTAGATTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp1 HG03098.hp1 others(3): Show HG02280.hp1 HG02647.hp1 HG03098.hp1 HG03471.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0016 a0001c0004t0001 a0001c0004t0003 a0001c0004t0016	a0001c0004t0001g0251 a0001c0004t0003g0196 a0001c0004t0003g0215 others(3): Show a0001c0004t0001g0251 a0001c0004t0003g0196 a0001c0004t0003g0215 a0001c0004t0003g0252 a0001c0004t0003g0253 a0001c0004t0016g0254	6	334	0.0180	27	c.354 others(44): Show c.354+1084_354+1110dupTTGTCTGTGTAGACTGTCCTGTGTAGA	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN21_chr14_88460778_88560007	88518414	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	204	0.0049	27	c.181 others(44): Show c.181-1154_181-1153insAAAAAAATATATATATATATATATATA	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	2/18			chr14	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0048 a0001c0001t0010g0048	1	58	0.0172	27	c.859 others(44): Show c.859-5436_859-5435insATATATATATATATTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	58	0.0172	27	c.859 others(44): Show c.859-5436_859-5435insATATATATATATATATATATATATATA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12835382	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	25	0.0400	27	c.261 others(44): Show c.261+1408_261+1409insAAAAAAAAAAAAAAAAAAAAAAAAAAA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	3/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12876296	A A	AAAGAAGA others(20): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01123.hp2 others(13): Show HG00733.hp1 HG01106.hp2 HG01123.hp2 HG01261.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG02683.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG06807.hp2 NA18612.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019	a0001c0001t0001g0066 a0001c0001t0001g0139 a0001c0001t0001g0150 others(13): Show a0001c0001t0001g0066 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0336 a0001c0001t0013g0061 a0001c0001t0013g0062 a0001c0001t0013g0063 a0001c0001t0014g0059 a0001c0001t0014g0082 a0001c0001t0019g0033	16	85	0.1882	27	c.69+ others(42): Show c.69+7776_69+7777insCTTCTTCTTCTTCTTCTTCTTCTTCTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN4_chr2_119754922_119989899	119973655	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	20	0.0500	27	c.269 others(46): Show c.2695-3328_2695-3302dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN9_chr15_75458251_75584315	75530614	A A	AATATATA others(20): Show AATATATATTATTATATAATATACTATT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19057.hp2 HG02056.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0239 a0001c0001t0002g0217 a0001c0001t0002g0239	2	324	0.0062	27	c.64- others(42): Show c.64-3354_64-3353insAATAGTATATTATATAATAATATATAT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75530652	T T	TTATTATA others(20): Show TTATTATATTATAATATACTATAATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp1 HG02055.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0030 a0001c0001t0003 a0001c0001t0030	a0001c0001t0003g0011 a0001c0001t0030g0105 a0001c0001t0003g0011 a0001c0001t0030g0105	2	324	0.0062	27	c.64- others(42): Show c.64-3392_64-3391insTATATTATAGTATATTATAATATAATA	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75530748	A A	ATATAATA others(20): Show ATATAATATAATATATTATTATAATTAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	324	0.0031	27	c.64- others(42): Show c.64-3514_64-3488dupATAATTATAATAATATATTATATTATA	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0321 a0001c0001t0044g0321	1	89	0.0112	27	c.64- others(44): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRD_chr9_8309246_10618002	8421370	T T	TTCTCTTC others(20): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA19240.hp1 HG02683.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0006 a0005c0016 a0001c0006 a0005c0016	a0001c0006t0026 a0005c0016t0020 a0001c0006t0026 a0005c0016t0020	a0001c0006t0026g0034 a0005c0016t0020g0011 a0001c0006t0026g0034 a0005c0016t0020g0011	2	30	0.0667	27	c.408 others(48): Show c.4086+15221_4086+15222insGAAGAGAAGAGAAGAGAAGAGAAG AGA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	35/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9413100	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0015 a0001c0004t0018g0015	1	2	0.5000	27	c.-23 others(48): Show c.-236-15619_-236-15618insAAAAAAAAAAAAAAAAAAAAAAAA AAA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	8/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9976689	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0019 a0001c0005t0001g0019	1	3	0.3333	27	c.-47 others(48): Show c.-471-38080_-471-38079insTTTTTTTTTTTTTTTTTTTTTTTT TTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9998127	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0031 a0001c0003t0023g0031	1	20	0.0500	27	c.-47 others(48): Show c.-472+35590_-472+35591insATATATATATATATATATATATAT ATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10065141	T T	TGAAAGAA others(20): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0020 a0005c0016t0020	a0005c0016t0020g0011 a0005c0016t0020g0011	1	4	0.2500	27	c.-54 others(48): Show c.-544-31352_-544-31351insTTCTTTCTTTCTTTCTTTCTTTCT TTC	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10504115	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	3	0.3333	27	c.-60 others(50): Show c.-600+108282_-600+108283insTTTTTTTTTTTTTTTTTTTTTT TTTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61676456	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0022 a0001c0005t0009g0022	1	30	0.0333	27	c.86- others(44): Show c.86-72404_86-72403insAAAAAAAAAAAAAAAAAAAAAAAAAAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results