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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRUNE2_chr9_76606376_76911114 | 76858764 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0018 | 1 | 238 | 0.0042 | -13 | c.37- others(28): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76897390 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0003 | a0003c0015 | a0003c0015t0003 | a0003c0015t0003g0160 | 1 | 21 | 0.0476 | -13 | c.36+ others(28): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
PRXL2A_chr10_80403551_80442115 | 80428727 | ACTTCTAG others(6): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0021 | a0001c0001t0014g0053 a0001c0001t0014g0055 a0001c0001t0014g0056 others(2): Show |
6 | 298 | 0.0201 | -13 | c.576 others(30): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRXL2C_chr9_96634577_96660317 | 96650814 | ACGCGTGC others(6): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01884.hp2 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0006a0003c0003t0009others(1): Show | a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0006g0015 others(7): Show |
16 | 288 | 0.0556 | -13 | c.421 others(28): Show |
PRXL2C | ENSG00000158122.12 | transcript | ENST00000375234.8 | protein_coding | 4/5 | chr9 | TogoVar | |||||||
PRX_chr19_40388768_40418378 | 40405626 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp2 HG01361.hp2 others(5): Show |
a0001a0007a0023 | a0001c0001a0007c0007a0023c0018 | a0001c0001t0001a0007c0007t0001a0023c0018t0001 | a0001c0001t0001g0177 a0007c0007t0001g0122 a0007c0007t0001g0123 others(5): Show |
8 | 33 | 0.2424 | -13 | c.28- others(28): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
PSD2_chr5_139790808_139849466 | 139842846 | CAGGTCTT others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0099 | 1 | 274 | 0.0036 | -13 | c.*37 others(22): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 15/15 | 379 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PSD3_chr8_18522303_19018703 | 18582816 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(133): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0015 others(133): Show |
136 | 155 | 0.8774 | -13 | c.248 others(32): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18611678 | TCTGTGAA others(6): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 226 | 0.0044 | -13 | c.241 others(34): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 11/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18612974 | GCAGGAAG others(6): Show |
G | intron_variant | MODIFIER | HG02965.hp2 HG02970.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0010a0002c0007t0026 | a0001c0001t0010g0068 a0002c0007t0026g0168 |
2 | 226 | 0.0088 | -13 | c.241 others(34): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 11/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18783425 | TTTCTCTA others(6): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp1 HG02809.hp2 others(1): Show |
a0001a0002a0005 | a0001c0022a0002c0007a0002c0030others(1): Show | a0001c0022t0006a0002c0007t0020a0002c0030t0020others(1): Show | a0001c0022t0006g0201 a0002c0007t0020g0002 a0002c0030t0020g0182 others(1): Show |
4 | 226 | 0.0177 | -13 | c.208 others(34): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 8/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865263 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 224 | 0.0045 | -13 | c.163 others(32): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865265 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0218 | 1 | 222 | 0.0045 | -13 | c.163 others(32): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865267 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG03491.hp1 NA19060.hp2 |
a0001 | a0001c0002a0001c0027 | a0001c0002t0001a0001c0002t0008a0001c0027t0036 | a0001c0002t0001g0031 a0001c0002t0008g0108 a0001c0027t0036g0107 |
3 | 222 | 0.0135 | -13 | c.163 others(32): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865269 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0213 | 1 | 217 | 0.0046 | -13 | c.163 others(32): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865273 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0083 | 1 | 221 | 0.0045 | -13 | c.163 others(32): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73151892 | ATATTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0311 | 1 | 371 | 0.0027 | -13 | c.87+ others(28): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73202441 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0292 | 1 | 371 | 0.0027 | -13 | c.869 others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73202443 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0122 a0001c0001t0006g0280 |
2 | 372 | 0.0054 | -13 | c.869 others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73202445 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0145 | 1 | 375 | 0.0027 | -13 | c.869 others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73202449 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 374 | 0.0027 | -13 | c.869 others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | chr14 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73202450 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 a0001c0001t0002g0147 |
2 | 376 | 0.0053 | -13 | c.869 others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73202452 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 373 | 0.0027 | -13 | c.869 others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73212088 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02056.hp1 HG02451.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0002g0196 a0001c0001t0002g0266 a0001c0001t0002g0285 others(16): Show |
19 | 62 | 0.3065 | -13 | c.112 others(30): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSG2_chr19_43059209_43087701 | 43082120 | CTCTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00642.hp2 others(37): Show |
a0002a0003a0004 | a0002c0002a0002c0003a0002c0017others(4): Show | a0002c0002t0001a0002c0003t0001a0002c0017t0001others(4): Show | a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0107 others(24): Show |
40 | 314 | 0.1274 | -13 | c.64+ others(26): Show |
PSG2 | ENSG00000242221.9 | transcript | ENST00000406487.6 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG2_chr19_43059209_43087701 | 43082122 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(109): Show |
a0001a0017 | a0001c0001a0017c0024 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(45): Show |
112 | 279 | 0.4014 | -13 | c.64+ others(26): Show |
PSG2 | ENSG00000242221.9 | transcript | ENST00000406487.6 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG8_chr19_42749233_42770678 | 42761820 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0027 | a0027c0029 | a0027c0029t0001 | a0027c0029t0001g0185 | 1 | 124 | 0.0081 | -13 | c.430 others(30): Show |
PSG8 | ENSG00000124467.20 | transcript | ENST00000306511.5 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PSG9_chr19_43248282_43274530 | 43269773 | CACACACA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp2 HG03195.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0003a0001c0021t0003 | a0001c0001t0003g0015 a0001c0021t0003g0058 |
4 | 210 | 0.0190 | -13 | c.-35 others(22): Show |
PSG9 | ENSG00000183668.18 | transcript | ENST00000270077.8 | protein_coding | 244 | chr19 | TogoVar | |||||||
PSKH2_chr8_86042109_86074668 | 86049737 | AGAAAGAA others(6): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 418 | 0.0024 | -13 | c.853 others(28): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
PSMA3_chr14_58239843_58277004 | 58244028 | TTTACTGT others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 330 | 0.0030 | -13 | c.-89 others(22): Show |
PSMA3 | ENSG00000100567.13 | transcript | ENST00000216455.9 | protein_coding | 814 | chr14 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35628589 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 293 | 0.0034 | -13 | c.285 others(30): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35628591 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0086 |
2 | 289 | 0.0069 | -13 | c.285 others(30): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PSMB2_chr1_35594541_35646526 | 35642214 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG02135.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0026 a0001c0001t0007g0211 a0001c0001t0007g0212 others(3): Show |
6 | 7 | 0.8571 | -13 | c.-79 others(22): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 689 | chr1 | TogoVar | |||||||
PSMC1_chr14_90251553_90280429 | 90274826 | ACACACAC others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0026 | 1 | 388 | 0.0026 | -13 | c.*24 others(24): Show |
PSMC1 | ENSG00000100764.14 | transcript | ENST00000261303.13 | protein_coding | 11/11 | 2421 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMC2_chr7_103342643_103374395 | 103350998 | TCATTGTG others(6): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02055.hp1 others(10): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0004a0002c0004t0004 | a0001c0002t0004g0006 a0001c0002t0004g0016 a0001c0002t0004g0029 others(4): Show |
13 | 380 | 0.0342 | -13 | c.71- others(28): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PSMC2_chr7_103342643_103374395 | 103359138 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 12 | 0.0833 | -13 | c.291 others(30): Show |
PSMC2 | ENSG00000161057.13 | transcript | ENST00000292644.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PSMC4_chr19_39966165_39986764 | 39966944 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 3 | 210 | 0.0143 | -13 | c.-42 others(24): Show |
PSMC4 | ENSG00000013275.8 | transcript | ENST00000157812.7 | protein_coding | 4220 | chr19 | TogoVar | |||||||
PSMC4_chr19_39966165_39986764 | 39981866 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG03688.hp2 NA20129.hp2 others(1): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0001 | a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0094 others(1): Show |
4 | 236 | 0.0169 | -13 | c.*56 others(22): Show |
PSMC4 | ENSG00000013275.8 | transcript | ENST00000157812.7 | protein_coding | 103 | chr19 | TogoVar | |||||||
PSMC6_chr14_52702200_52733590 | 52705234 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 300 | 0.0033 | -13 | c.-19 others(24): Show |
PSMC6 | ENSG00000100519.12 | transcript | ENST00000445930.7 | protein_coding | 1965 | chr14 | TogoVar | |||||||
PSMD11_chr17_32439510_32488319 | 32485022 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp1 HG02074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0065 |
2 | 182 | 0.0110 | -13 | c.*42 others(24): Show |
PSMD11 | ENSG00000108671.11 | transcript | ENST00000261712.8 | protein_coding | 1704 | chr17 | TogoVar | |||||||
PSMD1_chr2_231051867_231177827 | 231055546 | TTAGCCGG others(6): Show |
T | upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 362 | 0.0028 | -13 | c.-14 others(24): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 1320 | chr2 | TogoVar | |||||||
PSMD1_chr2_231051867_231177827 | 231121396 | TAATAAAC others(6): Show |
T | intron_variant | MODIFIER | NA18988.hp2 NA18990.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0101 |
3 | 362 | 0.0083 | -13 | c.188 others(34): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD1_chr2_231051867_231177827 | 231144418 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG04204.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 |
3 | 64 | 0.0469 | -13 | c.199 others(32): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PSMD2_chr3_184294241_184314050 | 184296561 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01070.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0022 others(2): Show |
24 | 82 | 0.2927 | -13 | c.-27 others(24): Show |
PSMD2 | ENSG00000175166.17 | transcript | ENST00000310118.9 | protein_coding | 2679 | chr3 | TogoVar | |||||||
PSMD4_chr1_151249734_151272479 | 151253953 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(90): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(34): Show |
93 | 132 | 0.7045 | -13 | c.-82 others(22): Show |
PSMD4 | ENSG00000159352.16 | transcript | ENST00000368884.8 | protein_coding | 780 | chr1 | TogoVar | |||||||
PSMD5_chr9_120811053_120847922 | 120839798 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03209.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0007a0001c0007t0011 | a0001c0001t0007g0048 a0001c0001t0007g0050 a0001c0007t0011g0049 |
3 | 171 | 0.0175 | -13 | c.173 others(30): Show |
PSMD5 | ENSG00000095261.14 | transcript | ENST00000210313.8 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
PSMD6_chr3_64005551_64028494 | 64010375 | CCGTATTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 2 | 424 | 0.0047 | -13 | c.*28 others(22): Show |
PSMD6 | ENSG00000163636.11 | transcript | ENST00000295901.9 | protein_coding | 175 | chr3 | TogoVar | |||||||
PSMD6_chr3_64005551_64028494 | 64023685 | ATTTCTTG others(6): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 2 | 424 | 0.0047 | -13 | c.-27 others(22): Show |
PSMD6 | ENSG00000163636.11 | transcript | ENST00000295901.9 | protein_coding | 192 | chr3 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53940927 | TAATACAT others(6): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 382 | 0.0026 | -13 | c.501 others(28): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 3/46 | chr2 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53967649 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02886.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0160 a0001c0006t0003g0161 a0001c0006t0003g0162 others(2): Show |
5 | 86 | 0.0581 | -13 | c.242 others(30): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 1/46 | chr2 | TogoVar | |||||||
PSORS1C1_chr6_31109800_31145092 | 31133366 | CCAGACAT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00639.hp2 others(108): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0027 others(69): Show |
111 | 448 | 0.2478 | -13 | c.13+ others(28): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |