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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRUNE2_chr9_76606376_76911114 | 76774453 | T | TTTTTATT others(14): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00642.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0031a0001c0001t0001g0137a0001c0001t0003g0060others(9): Show | 12 | 240 | 0.0500 | 21 | c.756 others(40): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76774457 | T | TATTTATT others(14): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02071.hp1 HG02080.hp2 others(28): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0028a0001c0045others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(19): Show | a0001c0001t0001g0029a0001c0001t0001g0149a0001c0001t0003g0088others(28): Show | 31 | 240 | 0.1292 | 21 | c.756 others(40): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76855082 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0012 | a0002c0012t0005 | a0002c0012t0005g0103 | 1 | 240 | 0.0042 | 21 | c.37- others(34): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
PRXL2A_chr10_80403551_80442115 | 80406757 | C | CTTATATA others(14): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01257.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023 | a0001c0001t0003g0071a0001c0001t0023g0081 | 2 | 300 | 0.0067 | 21 | c.-18 others(32): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1793 | chr10 | TogoVar | ||||||
PRXL2A_chr10_80403551_80442115 | 80406790 | A | ATATATAT others(14): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 300 | 0.0033 | 21 | c.-18 others(32): Show |
PRXL2A | ENSG00000122378.14 | transcript | ENST00000606162.6 | protein_coding | 1760 | chr10 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18524782 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0003 | a0002c0003t0085 | a0002c0003t0085g0227 | 1 | 228 | 0.0044 | 21 | c.*10 others(34): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2520 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18570843 | C | CTATTATT others(14): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0007 | a0002c0007t0027 | a0002c0007t0027g0168 | 1 | 228 | 0.0044 | 21 | c.278 others(40): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 14/15 | chr8 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18949244 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0006 | a0004c0006t0079 | a0004c0006t0079g0216 | 1 | 228 | 0.0044 | 21 | c.22- others(38): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73151895 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0306 | 1 | 378 | 0.0027 | 21 | c.87+ others(36): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | chr14 | TogoVar | ||||||
PSG5_chr19_43162743_43191536 | 43182705 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG01261.hp1 others(29): Show |
a0001a0004a0018others(1): Show | a0001c0001a0004c0004a0018c0024others(1): Show | a0001c0001t0001a0001c0001t0007a0004c0004t0003others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0045a0001c0001t0001g0046others(17): Show | 32 | 430 | 0.0744 | 21 | c.430 others(38): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02293.hp2 NA18962.hp2 NA18990.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0014a0001c0004t0002 | a0001c0001t0001g0242a0001c0001t0014g0309a0001c0004t0002g0086 | 3 | 416 | 0.0072 | 21 | c.430 others(38): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0345 | 1 | 416 | 0.0024 | 21 | c.430 others(38): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18995.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198a0001c0001t0001g0229 | 2 | 416 | 0.0048 | 21 | c.430 others(38): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01517.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0218a0001c0001t0001g0301a0001c0013t0001g0166 | 3 | 416 | 0.0072 | 21 | c.430 others(38): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 416 | 0.0024 | 21 | c.430 others(38): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01981.hp1 NA19063.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0094a0001c0002t0002g0145a0001c0002t0004g0337 | 3 | 416 | 0.0072 | 21 | c.430 others(38): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933307 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18955.hp2 NA19068.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 | 2 | 416 | 0.0048 | 21 | c.430 others(38): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSG7_chr19_42919132_42942207 | 42933308 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG00642.hp1 NA19004.hp1 NA19080.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0260a0001c0001t0001g0270a0002c0003t0003g0335 | 3 | 416 | 0.0072 | 21 | c.430 others(38): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
PSIP1_chr9_15459066_15515970 | 15497325 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02647.hp2 HG02818.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0004a0002c0003t0001 | a0001c0002t0004g0036a0001c0002t0004g0045a0001c0002t0004g0049others(2): Show | 5 | 300 | 0.0167 | 21 | c.150 others(38): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 3/15 | chr9 | TogoVar | ||||||
PSKH2_chr8_86042109_86074668 | 86049747 | A | AAAGGAAA others(14): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 420 | 0.0024 | 21 | c.853 others(36): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
PSMA1_chr11_14499876_14525386 | 14508561 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01516.hp2 HG01517.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0020a0001c0001t0001g0036others(1): Show | 10 | 412 | 0.0243 | 21 | c.625 others(36): Show |
PSMA1 | ENSG00000129084.18 | transcript | ENST00000396394.7 | protein_coding | 8/9 | chr11 | TogoVar | ||||||
PSMA6_chr14_35287382_35322493 | 35299327 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 380 | 0.0026 | 21 | c.76+ others(36): Show |
PSMA6 | ENSG00000100902.11 | transcript | ENST00000261479.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PSMB2_chr1_35594541_35646526 | 35628592 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 300 | 0.0033 | 21 | c.285 others(38): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PSMB2_chr1_35594541_35646526 | 35628594 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 300 | 0.0033 | 21 | c.285 others(38): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PSMB2_chr1_35594541_35646526 | 35628596 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193 | 1 | 300 | 0.0033 | 21 | c.285 others(38): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PSMB2_chr1_35594541_35646526 | 35628596 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 300 | 0.0033 | 21 | c.285 others(38): Show |
PSMB2 | ENSG00000126067.12 | transcript | ENST00000373237.4 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PSMD12_chr17_67332916_67371577 | 67334603 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0323 | 1 | 398 | 0.0025 | 21 | c.*62 others(32): Show |
PSMD12 | ENSG00000197170.10 | transcript | ENST00000356126.8 | protein_coding | 3312 | chr17 | TogoVar | ||||||
PSMD13_chr11_231976_257984 | 249553 | A | AGAGCGGC others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0188others(2): Show | 5 | 450 | 0.0111 | 21 | c.774 others(36): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PSMD14_chr2_161303425_161416717 | 161357076 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0135a0001c0001t0001g0136others(7): Show | 10 | 268 | 0.0373 | 21 | c.49- others(38): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTGTTTT others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03017.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0149a0001c0001t0001g0213a0001c0001t0002g0018others(2): Show | 5 | 268 | 0.0187 | 21 | c.571 others(38): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD14_chr2_161303425_161416717 | 161389889 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 268 | 0.0037 | 21 | c.571 others(38): Show |
PSMD14 | ENSG00000115233.12 | transcript | ENST00000409682.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PSMD4_chr1_151249734_151272479 | 151251260 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 420 | 0.0024 | 21 | c.-35 others(32): Show |
PSMD4 | ENSG00000159352.16 | transcript | ENST00000368884.8 | protein_coding | 3473 | chr1 | TogoVar | ||||||
PSMD9_chr12_121883790_121923297 | 121901666 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18965.hp1 |
a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0344a0005c0005t0008g0346 | 2 | 398 | 0.0050 | 21 | c.454 others(38): Show |
PSMD9 | ENSG00000110801.14 | transcript | ENST00000541212.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PSMD9_chr12_121883790_121923297 | 121904639 | T | TTTATTAT others(14): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017 | a0001c0001t0001g0085a0001c0001t0001g0102a0001c0001t0004g0012others(8): Show | 12 | 398 | 0.0302 | 21 | c.555 others(38): Show |
PSMD9 | ENSG00000110801.14 | transcript | ENST00000541212.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PSME4_chr2_53859069_53975993 | 53860038 | T | TCCCCCCC others(14): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0249 | 1 | 384 | 0.0026 | 21 | c.*55 others(32): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 4030 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53876716 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01257.hp1 HG02717.hp1 others(2): Show |
a0001a0004 | a0001c0005a0001c0009a0004c0008 | a0001c0005t0001a0001c0009t0001a0004c0008t0001 | a0001c0005t0001g0313a0001c0005t0001g0314a0001c0005t0001g0328others(2): Show | 5 | 384 | 0.0130 | 21 | c.481 others(38): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 41/46 | chr2 | TogoVar | ||||||
PSME4_chr2_53859069_53975993 | 53933375 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02523.hp1 NA18963.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0007 | a0003c0004t0001g0033a0003c0004t0001g0256a0003c0004t0001g0302others(1): Show | 4 | 384 | 0.0104 | 21 | c.958 others(36): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 8/46 | chr2 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01993.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0129a0001c0001t0003g0115 | 2 | 326 | 0.0061 | 21 | c.366 others(38): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01243.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006 | a0001c0001t0003g0118a0001c0001t0003g0119a0001c0001t0003g0120others(10): Show | 13 | 326 | 0.0399 | 21 | c.366 others(38): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02683.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0141a0001c0001t0003g0142a0001c0001t0004g0149others(1): Show | 4 | 326 | 0.0123 | 21 | c.366 others(38): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PSMF1_chr20_1113602_1177246 | 1133569 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 326 | 0.0031 | 21 | c.366 others(38): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PSMG1_chr21_39169769_39188451 | 39185295 | T | TAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG03471.hp1 NA18946.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0003a0001c0003t0005 | a0001c0002t0001g0016a0001c0003t0003g0005a0001c0003t0005g0010 | 7 | 392 | 0.0179 | 21 | c.-19 others(32): Show |
PSMG1 | ENSG00000183527.12 | transcript | ENST00000331573.8 | protein_coding | 1845 | chr21 | TogoVar | ||||||
PSORS1C1_chr6_31109800_31145092 | 31127561 | A | AATTATTA others(14): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01099.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0002g0021a0001c0001t0002g0120a0001c0001t0002g0136others(9): Show | 14 | 449 | 0.0312 | 21 | c.-65 others(38): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PSTPIP2_chr18_45978536_46077260 | 45979195 | C | CCTCTCCC others(14): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0279 | 1 | 316 | 0.0032 | 21 | c.*62 others(32): Show |
PSTPIP2 | ENSG00000152229.18 | transcript | ENST00000409746.5 | protein_coding | 4340 | chr18 | TogoVar | ||||||
PTAR1_chr9_69704525_69765011 | 69759960 | T | TCGGGCGC others(14): Show |
5_prime_UTR_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0286 | 1 | 388 | 0.0026 | 21 | c.-43 others(28): Show |
PTAR1 | ENSG00000188647.13 | transcript | ENST00000340434.5 | protein_coding | 1/8 | 23 | chr9 | TogoVar | |||||
PTBP2_chr1_96716784_96820049 | 96791826 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0008a0001c0003t0001 | a0001c0002t0001g0275a0001c0002t0001g0284a0001c0002t0001g0291others(9): Show | 12 | 364 | 0.0330 | 21 | c.904 others(38): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PTBP2_chr1_96716784_96820049 | 96791826 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0265a0001c0002t0001g0267a0001c0002t0001g0268others(13): Show | 16 | 364 | 0.0440 | 21 | c.904 others(38): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PTBP2_chr1_96716784_96820049 | 96799294 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00558.hp2 HG03041.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0266a0001c0002t0001g0311a0001c0002t0001g0319others(2): Show | 5 | 364 | 0.0137 | 21 | c.905 others(38): Show |
PTBP2 | ENSG00000117569.20 | transcript | ENST00000674951.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PTBP3_chr9_112213435_112338619 | 112244289 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03130.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0012 | a0001c0001t0001g0306a0001c0001t0010g0278a0001c0001t0012g0335others(1): Show | 4 | 342 | 0.0117 | 21 | c.802 others(38): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 7/13 | chr9 | TogoVar | ||||||
PTBP3_chr9_112213435_112338619 | 112320285 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0067 | 1 | 342 | 0.0029 | 21 | c.-52 others(40): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 1/13 | chr9 | TogoVar |