regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PSD3_chr8_18522303_19018703 | 18865271 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0029a0001c0001t0003g0151a0001c0001t0014g0209 | 3 | 228 | 0.0132 | -9 | c.163 others(28): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73212088 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01081.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0115a0001c0001t0001g0139a0001c0001t0003g0305others(14): Show | 17 | 378 | 0.0450 | -9 | c.112 others(26): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSENEN_chr19_35740651_35752519 | 35743373 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02015.hp1 HG02027.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0008 | a0001c0001t0004g0001a0001c0001t0006g0001a0001c0001t0008g0001 | 27 | 412 | 0.0655 | -9 | c.-24 others(20): Show |
PSENEN | ENSG00000205155.8 | transcript | ENST00000587708.7 | protein_coding | 2277 | chr19 | TogoVar | ||||||
PSG2_chr19_43059209_43087701 | 43082122 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(73): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(30): Show | 76 | 424 | 0.1793 | -9 | c.64+ others(22): Show |
PSG2 | ENSG00000242221.9 | transcript | ENST00000406487.6 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
PSG8_chr19_42749233_42770678 | 42761820 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01071.hp1 others(14): Show |
a0003a0012a0014others(2): Show | a0003c0003a0003c0005a0012c0034others(3): Show | a0003c0003t0001a0003c0005t0001a0012c0034t0001others(3): Show | a0003c0003t0001g0024a0003c0003t0001g0165a0003c0003t0001g0166others(9): Show | 17 | 438 | 0.0388 | -9 | c.430 others(26): Show |
PSG8 | ENSG00000124467.20 | transcript | ENST00000306511.5 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
PSIP1_chr9_15459066_15515970 | 15486640 | TAAAGATG others(2): Show |
T | intron_variant | MODIFIER | HG00673.hp2 NA19055.hp1 NA19077.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0071a0003c0005t0002g0073a0003c0005t0002g0074 | 3 | 300 | 0.0100 | -9 | c.393 others(24): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 5/15 | chr9 | TogoVar | ||||||
PSMB1_chr6_170530120_170558307 | 170531229 | CAGCCCAG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02886.hp2 HG03041.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012a0002c0002t0001g0180 | 6 | 364 | 0.0165 | -9 | c.*39 others(20): Show |
PSMB1 | ENSG00000008018.9 | transcript | ENST00000262193.7 | protein_coding | 3890 | chr6 | TogoVar | ||||||
PSMB2_chr1_35594541_35646526 | 35628593 | AAAAATAT others(2): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02145.hp2 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0002c0002t0006 | a0001c0001t0004g0276a0001c0001t0004g0284a0001c0001t0006g0262others(7): Show | 10 | 300 | 0.0333 | -9 | c.285 others(26): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PSMB4_chr1_151394573_151406937 | 151398423 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG02630.hp2 HG02723.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0002t0001g0001others(1): Show | 7 | 396 | 0.0177 | -9 | c.-11 others(20): Show |
PSMB4 | ENSG00000159377.11 | transcript | ENST00000290541.7 | protein_coding | 1149 | chr1 | TogoVar | ||||||
PSMB7_chr9_124348465_124420442 | 124350106 | CCTGCTGC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02922.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022a0002c0002t0001g0069 | 3 | 408 | 0.0074 | -9 | c.*34 others(20): Show |
PSMB7 | ENSG00000136930.13 | transcript | ENST00000259457.8 | protein_coding | 3358 | chr9 | TogoVar | ||||||
PSMC2_chr7_103342643_103374395 | 103359138 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02896.hp1 HG02965.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0047others(8): Show | 16 | 382 | 0.0419 | -9 | c.291 others(26): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PSMD10_chrX_108079207_108096542 | 108083765 | CACTCACA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 301 | 0.0033 | -9 | c.*12 others(20): Show |
PSMD10 | ENSG00000101843.19 | transcript | ENST00000217958.8 | protein_coding | 441 | chrX | TogoVar | ||||||
PSMD12_chr17_67332916_67371577 | 67361902 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01175.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0019others(1): Show | a0001c0002t0003g0297a0001c0002t0004g0023a0001c0002t0004g0345others(4): Show | 8 | 398 | 0.0201 | -9 | c.109 others(26): Show |
PSMD12 | ENSG00000197170.10 | transcript | ENST00000356126.8 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
PSMD1_chr2_231051867_231177827 | 231145894 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00609.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0169others(28): Show | 33 | 364 | 0.0907 | -9 | c.199 others(26): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSME4_chr2_53859069_53975993 | 53923913 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp2 HG01243.hp2 others(28): Show |
a0001a0014 | a0001c0005a0001c0007a0014c0016 | a0001c0005t0001a0001c0005t0009a0001c0007t0001others(1): Show | a0001c0005t0001g0182a0001c0005t0001g0311a0001c0005t0001g0316others(28): Show | 31 | 384 | 0.0807 | -9 | c.181 others(26): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 14/46 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53933375 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03831.hp2 HG04199.hp2 HG04228.hp2 others(12): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0032others(1): Show | a0002c0002t0002a0002c0003t0002a0002c0032t0004others(1): Show | a0002c0002t0002g0047a0002c0002t0002g0099a0002c0002t0002g0100others(12): Show | 15 | 384 | 0.0391 | -9 | c.958 others(24): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 8/46 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53973905 | ATATTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01257.hp2 HG01943.hp2 others(4): Show |
a0001a0002 | a0001c0006a0001c0007a0002c0003others(1): Show | a0001c0006t0003a0001c0007t0001a0002c0003t0002others(1): Show | a0001c0006t0003g0371a0001c0007t0001g0017a0002c0003t0002g0076others(4): Show | 7 | 384 | 0.0182 | -9 | c.-31 others(20): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 2913 | chr2 | TogoVar | ||||||
PSORS1C1_chr6_31109800_31145092 | 31140629 | ACATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00597.hp1 others(58): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0013 | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(3): Show | a0001c0001t0001g0079a0002c0002t0001g0004a0002c0002t0001g0009others(34): Show | 61 | 449 | 0.1359 | -9 | c.*69 others(18): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 538 | chr6 | TogoVar | ||||||
PSORS1C2_chr6_31132534_31144066 | 31140629 | ACATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(62): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0051a0001c0001t0001g0081others(8): Show | 65 | 461 | 0.1410 | -9 | c.-16 others(20): Show |
PSORS1C2 | ENSG00000204538.4 | transcript | ENST00000259845.5 | protein_coding | 1564 | chr6 | TogoVar | ||||||
PSPC1_chr13_19697500_19787945 | 19730956 | ACAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0001g0131others(86): Show | 89 | 258 | 0.3450 | -9 | c.105 others(26): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
PSPC1_chr13_19697500_19787945 | 19741875 | CAATCCCA others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01168.hp1 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053a0001c0001t0002g0054a0001c0001t0002g0108 | 3 | 258 | 0.0116 | -9 | c.968 others(24): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 4/8 | chr13 | TogoVar | ||||||
PSPH_chr7_56006064_56056444 | 56052788 | CTTTTCTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(242): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0052a0001c0001t0001g0290a0001c0001t0002g0002others(231): Show | 245 | 392 | 0.6250 | -9 | c.-19 others(20): Show |
PSPH | ENSG00000146733.14 | transcript | ENST00000275605.8 | protein_coding | 1345 | chr7 | TogoVar | ||||||
PSTK_chr10_122975401_122995390 | 122989187 | GGGGGTGG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0018others(9): Show | 25 | 416 | 0.0601 | -9 | c.878 others(24): Show |
PSTK | ENSG00000179988.15 | transcript | ENST00000406217.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PTCHD1_chrX_23329849_23409374 | 23334756 | CCGCCGCC others(2): Show |
C | upstream_gene_variant | MODIFIER | NA18949.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0070a0001c0001t0011g0087 | 2 | 297 | 0.0067 | -9 | c.-11 others(18): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 92 | chrX | TogoVar | ||||||
PTCHD1_chrX_23329849_23409374 | 23342301 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | NA18940.hp1 NA19076.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0057a0001c0001t0123 | a0001c0001t0042g0261a0001c0001t0057g0262a0001c0001t0123g0174 | 3 | 297 | 0.0101 | -9 | c.351 others(26): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 1/2 | chrX | TogoVar | ||||||
PTCHD1_chrX_23329849_23409374 | 23342302 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02004.hp1 HG03491.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0017 | a0001c0001t0020g0165a0001c0002t0017g0164 | 2 | 297 | 0.0067 | -9 | c.351 others(26): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PTCHD1_chrX_23329849_23409374 | 23390337 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02818.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0001t0033a0001c0001t0162others(5): Show | a0001c0001t0010g0290a0001c0001t0033g0252a0001c0001t0162g0129others(5): Show | 8 | 297 | 0.0269 | -9 | c.101 others(28): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PTCRA_chr6_42911053_42930838 | 42917190 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00642.hp1 others(47): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0016others(27): Show | 50 | 412 | 0.1214 | -9 | c.58+ others(24): Show |
PTCRA | ENSG00000171611.10 | transcript | ENST00000304672.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PTCRA_chr6_42911053_42930838 | 42917526 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01884.hp1 HG01891.hp1 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0061a0001c0001t0001g0062others(13): Show | 22 | 412 | 0.0534 | -9 | c.58+ others(24): Show |
PTCRA | ENSG00000171611.10 | transcript | ENST00000304672.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PTEN_chr10_87858625_87976930 | 87858636 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(16): Show | a0001c0001t0002g0009a0001c0001t0002g0144a0001c0001t0002g0214others(54): Show | 57 | 322 | 0.1770 | -9 | c.-58 others(20): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 4988 | chr10 | TogoVar | ||||||
PTGDR2_chr11_60845933_60860950 | 60860827 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01167.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0003g0002a0001c0001t0004g0022others(3): Show | 11 | 406 | 0.0271 | -9 | c.-49 others(20): Show |
PTGDR2 | ENSG00000183134.5 | transcript | ENST00000332539.5 | protein_coding | 4878 | chr11 | TogoVar | ||||||
PTGER3_chr1_70965782_71052816 | 71029926 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG01168.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0315a0001c0001t0002g0295a0001c0001t0002g0308others(11): Show | 14 | 372 | 0.0376 | -9 | c.897 others(28): Show |
PTGER3 | ENSG00000050628.21 | transcript | ENST00000306666.10 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
PTGES3L_chr17_42963103_42985080 | 42965117 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(177): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0005a0007c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(93): Show | 180 | 336 | 0.5357 | -9 | c.*40 others(20): Show |
PTGES3L | ENSG00000267060.7 | transcript | ENST00000591916.7 | protein_coding | 2985 | chr17 | TogoVar | ||||||
PTGR1_chr9_111557567_111604647 | 111564277 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG02080.hp2 HG02280.hp1 HG02895.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0093a0001c0001t0001g0303a0001c0001t0001g0304others(11): Show | 14 | 408 | 0.0343 | -9 | c.880 others(26): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 9/9 | chr9 | TogoVar | ||||||
PTGR3_chr18_75190113_75214139 | 75193982 | TGTGTGTC others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0014a0001c0001t0042a0001c0008t0014 | a0001c0001t0014g0022a0001c0001t0042g0115a0001c0008t0014g0060 | 4 | 434 | 0.0092 | -9 | c.*74 others(20): Show |
PTGR3 | ENSG00000180011.7 | transcript | ENST00000322342.4 | protein_coding | 1130 | chr18 | TogoVar | ||||||
PTK2B_chr8_27320552_27464386 | 27336563 | ATGTAAAC others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 NA19240.hp1 |
a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0314a0001c0008t0003g0315a0001c0008t0003g0316 | 3 | 328 | 0.0092 | -9 | c.-38 others(28): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTK2B_chr8_27320552_27464386 | 27401260 | AGAGAACC others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(116): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0008others(10): Show | a0001c0001t0003a0001c0002t0001a0001c0008t0003others(12): Show | a0001c0001t0003g0051a0001c0002t0001g0296a0001c0008t0003g0114others(112): Show | 119 | 328 | 0.3628 | -9 | c.204 others(26): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTK2_chr8_140652900_141006282 | 140670491 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02809.hp1 HG03834.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0128a0001c0001t0001g0136a0001c0001t0001g0143others(3): Show | 6 | 290 | 0.0207 | -9 | c.283 others(26): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 32/35 | chr8 | TogoVar | ||||||
PTK2_chr8_140652900_141006282 | 140820110 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02155.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0142a0001c0001t0001g0265a0001c0003t0001g0181others(3): Show | 6 | 290 | 0.0207 | -9 | c.649 others(26): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 8/35 | chr8 | TogoVar | ||||||
PTK7_chr6_43071314_43166715 | 43157351 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG03017.hp1 HG04115.hp2 NA18522.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0020 | a0001c0001t0002a0007c0020t0006 | a0001c0001t0002g0101a0001c0001t0002g0175a0001c0001t0002g0195others(1): Show | 4 | 272 | 0.0147 | -9 | c.272 others(28): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 17/19 | chr6 | TogoVar | ||||||
PTN_chr7_137222341_137348733 | 137277900 | TGAGATGA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(107): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(106): Show | 110 | 296 | 0.3716 | -9 | c.-1- others(26): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
PTN_chr7_137222341_137348733 | 137278306 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(162): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(160): Show | 165 | 296 | 0.5574 | -9 | c.-1- others(26): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
PTN_chr7_137222341_137348733 | 137278945 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0064others(1): Show | 4 | 296 | 0.0135 | -9 | c.-1- others(26): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
PTPN11_chr12_112413947_112514918 | 112506946 | TTGATGAT others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00735.hp1 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0040others(69): Show | 79 | 300 | 0.2633 | -9 | c.*11 others(20): Show |
PTPN11 | ENSG00000179295.19 | transcript | ENST00000351677.7 | protein_coding | 16/16 | 2221 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
PTPN13_chr4_86589315_86820161 | 86666387 | GCTCTCTC others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG03098.hp1 |
a0003a0010 | a0003c0002a0010c0013 | a0003c0002t0002a0010c0013t0003 | a0003c0002t0002g0010a0010c0013t0003g0011a0010c0013t0003g0018 | 3 | 198 | 0.0152 | -9 | c.116 others(26): Show |
PTPN13 | ENSG00000163629.13 | transcript | ENST00000411767.7 | protein_coding | 2/47 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PTPN13_chr4_86589315_86820161 | 86812309 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01123.hp2 others(12): Show |
a0003a0004a0007others(1): Show | a0003c0002a0004c0005a0004c0028others(2): Show | a0003c0002t0005a0004c0005t0004a0004c0005t0005others(4): Show | a0003c0002t0005g0169a0004c0005t0004g0001a0004c0005t0004g0002others(12): Show | 15 | 198 | 0.0758 | -9 | c.736 others(28): Show |
PTPN13 | ENSG00000163629.13 | transcript | ENST00000411767.7 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PTPN14_chr1_214343700_214556602 | 214350707 | ATTTTTTT others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02735.hp2 HG03017.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0019a0001c0001t0024others(3): Show | a0001c0001t0011g0036a0001c0001t0011g0038a0001c0001t0011g0123others(7): Show | 10 | 272 | 0.0368 | -9 | c.*72 others(20): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 19/19 | 7206 | chr1 | TogoVar | |||||
PTPN14_chr1_214343700_214556602 | 214433951 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00741.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0009a0001c0001t0039others(5): Show | a0001c0001t0005g0168a0001c0001t0009g0004a0001c0001t0039g0005others(5): Show | 8 | 272 | 0.0294 | -9 | c.344 others(28): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214490902 | GGGGAAGG others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01496.hp1 HG01993.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0002g0043a0001c0001t0004g0073a0001c0001t0011g0038others(12): Show | 15 | 272 | 0.0552 | -9 | c.-15 others(30): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214490955 | AGGAAGGA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00738.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0018others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0002g0132a0001c0001t0003g0006a0001c0001t0005g0168others(21): Show | 24 | 272 | 0.0882 | -9 | c.-15 others(30): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 1/18 | chr1 | TogoVar |