view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIEZO2_chr18_10665247_11154569 | 10886404 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0017 | a0001c0017t0004 | a0001c0017t0004g0142 a0001c0017t0004g0143 |
2 | 158 | 0.0127 | 24 | c.330 others(43): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886406 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 |
a0001a0002 | a0001c0058a0002c0045 | a0001c0058t0001a0002c0045t0001 | a0001c0058t0001g0150 a0002c0045t0001g0071 |
2 | 158 | 0.0127 | 24 | c.330 others(43): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10886408 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0004 | 1 | 158 | 0.0063 | 24 | c.330 others(43): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 11001905 | A | AGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001a0007a0017others(1): Show | a0001c0024a0007c0004a0017c0016others(1): Show | a0001c0024t0001a0007c0004t0003a0017c0016t0003others(1): Show | a0001c0024t0001g0156 a0007c0004t0003g0084 a0017c0016t0003g0015 others(1): Show |
4 | 158 | 0.0253 | 24 | c.161 others(43): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 2/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 11018382 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0041 | 1 | 158 | 0.0063 | 24 | c.161 others(43): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 2/55 | chr18 | TogoVar | |||||||
PIGL_chr17_16212210_16331411 | 16216786 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 HG03130.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0109 a0001c0001t0001g0110 |
3 | 246 | 0.0122 | 24 | c.-44 others(33): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 423 | chr17 | TogoVar | |||||||
PIGL_chr17_16212210_16331411 | 16311467 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG00741.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0023 others(19): Show |
22 | 246 | 0.0894 | 24 | c.427 others(41): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIGN_chr18_62036164_62192056 | 62062882 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0124 | a0002c0002t0124g0289 | 1 | 342 | 0.0029 | 24 | c.267 others(43): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 30/30 | chr18 | TogoVar | |||||||
PIGN_chr18_62036164_62192056 | 62071863 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0009 | a0001c0009t0054 | a0001c0009t0054g0285 | 1 | 342 | 0.0029 | 24 | c.267 others(41): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 30/30 | chr18 | TogoVar | |||||||
PIGN_chr18_62036164_62192056 | 62071863 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0009 | a0001c0009t0052 | a0001c0009t0052g0286 | 1 | 342 | 0.0029 | 24 | c.267 others(41): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 30/30 | chr18 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 579427 | C | CCTAGAGG others(17): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0060 | 1 | 408 | 0.0025 | 24 | c.133 others(41): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 579458 | A | ATGCCCCG others(17): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02258.hp1 others(4): Show |
a0002a0005 | a0002c0001a0005c0009 | a0002c0001t0001a0002c0001t0021a0005c0009t0010 | a0002c0001t0001g0022 a0002c0001t0001g0049 a0002c0001t0001g0211 others(3): Show |
7 | 408 | 0.0172 | 24 | c.133 others(41): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 579574 | T | TGAGGTGC others(17): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0175 | 1 | 408 | 0.0025 | 24 | c.133 others(41): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 579646 | A | AGAGGTGC others(17): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0211 | 1 | 408 | 0.0025 | 24 | c.133 others(41): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 579742 | T | TGAGGTGC others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02630.hp2 others(3): Show |
a0002 | a0002c0001a0002c0017 | a0002c0001t0001a0002c0001t0017a0002c0017t0001 | a0002c0001t0001g0135 a0002c0001t0001g0179 a0002c0001t0001g0327 others(3): Show |
6 | 408 | 0.0147 | 24 | c.133 others(41): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34603861 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG02896.hp2 NA19011.hp1 NA19090.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0075 a0001c0001t0001g0115 others(1): Show |
4 | 320 | 0.0125 | 24 | c.627 others(43): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 7/11 | chr20 | TogoVar | |||||||
PIGZ_chr3_196941356_196973833 | 196960737 | G | GAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00735.hp2 others(66): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0032 others(58): Show |
69 | 424 | 0.1627 | 24 | c.-1+ others(39): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067683 | A | AATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 384 | 0.0026 | 24 | c.*18 others(33): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 114 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 384 | 0.0026 | 24 | c.*18 others(33): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0055 |
2 | 384 | 0.0052 | 24 | c.*18 others(33): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 384 | 0.0026 | 24 | c.*18 others(33): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIK3AP1_chr10_96588315_96725514 | 96612950 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0223 | 1 | 256 | 0.0039 | 24 | c.201 others(43): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 13/16 | chr10 | TogoVar | |||||||
PIK3AP1_chr10_96588315_96725514 | 96628873 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02886.hp1 HG03453.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0006t0006a0002c0002t0001others(2): Show | a0001c0001t0001g0132 a0001c0006t0006g0232 a0002c0002t0001g0184 others(2): Show |
5 | 256 | 0.0195 | 24 | c.137 others(41): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 8/16 | chr10 | TogoVar | |||||||
PIK3AP1_chr10_96588315_96725514 | 96631875 | C | CAGAGACA others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0045 | 1 | 256 | 0.0039 | 24 | c.137 others(43): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 8/16 | chr10 | TogoVar | |||||||
PIK3AP1_chr10_96588315_96725514 | 96693441 | G | GTGGATGG others(17): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03579.hp1 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0005 | a0002c0002t0001g0076 a0002c0005t0005g0093 |
2 | 256 | 0.0078 | 24 | c.430 others(43): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 2/16 | chr10 | TogoVar | |||||||
PIK3C2A_chr11_17081575_17212986 | 17114080 | A | AAAATAAA others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0334 | 1 | 342 | 0.0029 | 24 | c.332 others(41): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 20/32 | chr11 | TogoVar | |||||||
PIK3C2B_chr1_204417633_204499805 | 204493524 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03490.hp1 HG04184.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(2): Show |
5 | 302 | 0.0166 | 24 | c.-85 others(39): Show |
PIK3C2B | ENSG00000133056.14 | transcript | ENST00000684373.1 | protein_coding | 1/32 | chr1 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18303115 | C | CTTCTTTC others(17): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG02622.hp1 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0003c0009others(2): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0003others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 others(6): Show |
9 | 176 | 0.0511 | 24 | c.103 others(43): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18395073 | C | CTCTTTCC others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 NA18970.hp1 NA18982.hp1 others(1): Show |
a0001a0002 | a0001c0004a0002c0016 | a0001c0004t0001a0002c0016t0001 | a0001c0004t0001g0041 a0001c0004t0001g0081 a0001c0004t0001g0084 others(1): Show |
4 | 176 | 0.0227 | 24 | c.212 others(43): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18395084 | C | CTTCTTTC others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01517.hp2 HG01884.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0017a0003c0020others(2): Show | a0001c0004t0001a0001c0004t0003a0002c0017t0001others(3): Show | a0001c0004t0001g0034 a0001c0004t0001g0089 a0001c0004t0003g0086 others(4): Show |
7 | 176 | 0.0398 | 24 | c.212 others(43): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18559821 | T | TATAGAGA others(17): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0014 | 1 | 176 | 0.0057 | 24 | c.359 others(43): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18559821 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0013 | 1 | 176 | 0.0057 | 24 | c.359 others(43): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18559821 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0045 | 1 | 176 | 0.0057 | 24 | c.359 others(43): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C2G_chr12_18256518_18653416 | 18559821 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 | 1 | 176 | 0.0057 | 24 | c.359 others(43): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3C3_chr18_41950234_42092830 | 42076133 | T | TATATGCA others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02056.hp1 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0059 | a0001c0002t0005g0227 a0001c0002t0059g0223 |
2 | 340 | 0.0059 | 24 | c.265 others(43): Show |
PIK3C3 | ENSG00000078142.14 | transcript | ENST00000262039.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PIK3CB_chr3_138647698_138839928 | 138763121 | A | AGTATGTA others(17): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01517.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(7): Show |
10 | 206 | 0.0485 | 24 | c.-16 others(41): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 2/23 | chr3 | TogoVar | |||||||
PIK3CG_chr7_106860282_106913980 | 106907764 | T | TAACATAT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp2 others(84): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0002a0006c0014others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0005others(9): Show | a0001c0001t0002g0141 a0001c0002t0002g0002 a0001c0002t0002g0004 others(45): Show |
87 | 378 | 0.2302 | 24 | c.*23 others(35): Show |
PIK3CG | ENSG00000105851.11 | transcript | ENST00000496166.6 | protein_coding | 11/11 | 2402 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PIK3R1_chr5_68210756_68306821 | 68217653 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0122 | 1 | 308 | 0.0033 | 24 | c.-38 others(43): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68217653 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0217 | 1 | 308 | 0.0033 | 24 | c.-38 others(43): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R2_chr19_18148163_18175532 | 18159144 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02602.hp1 NA19068.hp1 |
a0002 | a0002c0003a0002c0015 | a0002c0003t0001a0002c0015t0001 | a0002c0003t0001g0075 a0002c0003t0001g0112 a0002c0015t0001g0076 |
3 | 334 | 0.0090 | 24 | c.323 others(41): Show |
PIK3R2 | ENSG00000105647.19 | transcript | ENST00000222254.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIK3R3_chr1_46035140_46137629 | 46071759 | A | AGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0059 | 1 | 318 | 0.0031 | 24 | c.315 others(41): Show |
PIK3R3 | ENSG00000117461.15 | transcript | ENST00000262741.10 | protein_coding | 3/9 | chr1 | TogoVar | |||||||
PIKFYVE_chr2_208261255_208363746 | 208267761 | C | CCTCCCAA others(17): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0036 | 1 | 288 | 0.0035 | 24 | c.-10 others(41): Show |
PIKFYVE | ENSG00000115020.17 | transcript | ENST00000264380.9 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PIM3_chr22_49955772_49969072 | 49968667 | A | ACCAGGTC others(17): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0025 | 1 | 426 | 0.0024 | 24 | c.*55 others(35): Show |
PIM3 | ENSG00000198355.5 | transcript | ENST00000360612.5 | protein_coding | 4596 | chr22 | TogoVar | |||||||
PIMREG_chr17_6439455_6456469 | 6443146 | C | CATCTCTA others(17): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 312 | 0.0032 | 24 | c.-13 others(35): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 1308 | chr17 | TogoVar | |||||||
PINK1_chr1_20628458_20656511 | 20651801 | T | TTTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | NA18992.hp1 NA19007.hp2 NA19079.hp2 |
a0002a0017 | a0002c0002a0017c0015 | a0002c0002t0003a0017c0015t0003 | a0002c0002t0003g0021 a0002c0002t0003g0022 a0017c0015t0003g0227 |
3 | 458 | 0.0066 | 24 | c.*11 others(35): Show |
PINK1 | ENSG00000158828.8 | transcript | ENST00000321556.5 | protein_coding | 291 | chr1 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22588326 | G | GCTTGTGG others(17): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0181 |
2 | 206 | 0.0097 | 24 | c.492 others(41): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
PIP5K1A_chr1_151193552_151254531 | 151251260 | C | CAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0019 | a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0248 others(2): Show |
6 | 334 | 0.0180 | 24 | c.*33 others(35): Show |
PIP5K1A | ENSG00000143398.20 | transcript | ENST00000368888.9 | protein_coding | 1730 | chr1 | TogoVar | |||||||
PIP5K1B_chr9_68700240_69014176 | 68920784 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 220 | 0.0046 | 24 | c.111 others(43): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PIP5K1B_chr9_68700240_69014176 | 68925795 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 220 | 0.0046 | 24 | c.120 others(43): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3647203 | A | AGGAGGAG others(17): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0180 | 1 | 332 | 0.0030 | 24 | c.126 others(41): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 10/17 | chr19 | TogoVar |