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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPA1_chr10_70197835_70238429 | 70220890 | CTATATAT others(39): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01256.hp2 others(15): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0001 | a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0117 others(12): Show |
18 | 373 | 0.0483 | -46 | c.124 others(63): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
PPA1_chr10_70197835_70238429 | 70220899 | TAATTTAT others(39): Show |
T | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 406 | 0.0025 | -46 | c.124 others(63): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
PPA1_chr10_70197835_70238429 | 70220925 | TTATATAT others(39): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 294 | 0.0034 | -46 | c.124 others(63): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70352727 | GCGGAGGG others(39): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01074.hp1 others(59): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0009others(7): Show | a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0215 others(59): Show |
62 | 280 | 0.2214 | -46 | c.216 others(65): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPM1J_chr1_112704998_112720332 | 112706454 | CACACACA others(39): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01981.hp2 HG03130.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0036 others(2): Show |
8 | 228 | 0.0351 | -46 | c.*36 others(57): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3543 | chr1 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706456 | CACACACA others(39): Show |
C | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 404 | 0.0025 | -46 | c.*36 others(57): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3541 | chr1 | TogoVar | |||||||
PPP1R16B_chr20_38800697_38928024 | 38896064 | TTTCTTCC others(39): Show |
T | intron_variant | MODIFIER | NA18906.hp1 NA19056.hp2 NA19067.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0127 a0001c0002t0002g0017 a0001c0002t0002g0087 |
3 | 242 | 0.0124 | -46 | c.467 others(61): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | chr20 | TogoVar | |||||||
PPP1R21_chr2_48435766_48520386 | 48469469 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0149 | 1 | 119 | 0.0084 | -46 | c.898 others(63): Show |
PPP1R21 | ENSG00000162869.16 | transcript | ENST00000294952.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 339451 | AGGGGTGA others(39): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0005 | a0005c0011 | a0005c0011t0005 | a0005c0011t0005g0025 | 1 | 23 | 0.0435 | -46 | c.135 others(63): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 10/12 | chrX | TogoVar | |||||||
PPP3CA_chr4_101018418_101352526 | 101124679 | AAGAAAGA others(39): Show |
A | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 190 | 0.0053 | -46 | c.260 others(65): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 2/13 | chr4 | TogoVar | |||||||
PPP5C_chr19_46342087_46395975 | 46389362 | AACACACA others(39): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00733.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0014 others(13): Show |
18 | 76 | 0.2368 | -46 | c.135 others(63): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50345234 | CCCCTCCA others(39): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp2 HG02895.hp2 others(1): Show |
a0006 | a0006c0011 | a0006c0011t0008 | a0006c0011t0008g0310 a0006c0011t0008g0311 a0006c0011t0008g0312 others(1): Show |
4 | 338 | 0.0118 | -46 | c.-14 others(65): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089102 | TCTCTCTC others(39): Show |
T | upstream_gene_variant | MODIFIER | NA18971.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0016 | 1 | 306 | 0.0033 | -46 | c.-43 others(55): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 138 | chr5 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089104 | TCTCTCTC others(39): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0007 | a0002c0007t0026 | a0002c0007t0026g0233 | 1 | 309 | 0.0032 | -46 | c.-43 others(55): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 136 | chr5 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089106 | TCTCTCTC others(39): Show |
T | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0007 | a0002c0007t0026 | a0002c0007t0026g0234 | 1 | 310 | 0.0032 | -46 | c.-42 others(55): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 134 | chr5 | TogoVar | |||||||
PRELID3A_chr18_12402929_12437234 | 12420770 | ATCTTCCT others(39): Show |
A | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 392 | 0.0026 | -46 | c.201 others(61): Show |
PRELID3A | ENSG00000141391.14 | transcript | ENST00000440960.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66562060 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0028 | 1 | 176 | 0.0057 | -46 | c.288 others(65): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 23865487 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0097 | 1 | 144 | 0.0069 | -46 | c.205 others(65): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCG_chr19_53877197_53912652 | 53905721 | ACTCTCCC others(39): Show |
A | intron_variant | MODIFIER | HG03669.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 a0001c0001t0001g0313 |
2 | 360 | 0.0056 | -46 | c.176 others(63): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRKCH_chr14_61316579_61555976 | 61439593 | AGGTGCAC others(39): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02572.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0003 | a0001c0001t0001g0035 a0001c0002t0002g0176 a0001c0003t0003g0201 |
3 | 206 | 0.0146 | -46 | c.428 others(63): Show |
PRKCH | ENSG00000027075.17 | transcript | ENST00000332981.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRKD1_chr14_29571479_29932847 | 29700973 | CATGCGCG others(39): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01071.hp1 HG01099.hp1 others(88): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 others(88): Show |
91 | 156 | 0.5833 | -46 | c.403 others(65): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3639300 | GGGGGGTG others(39): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01891.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0044a0001c0002t0010a0001c0002t0027others(3): Show | a0001c0001t0044g0061 a0001c0002t0010g0111 a0001c0002t0027g0110 others(3): Show |
6 | 217 | 0.0276 | -46 | c.719 others(63): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
PRMT3_chr11_20382716_20514338 | 20490520 | TAATCCCA others(39): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 a0001c0001t0002g0060 |
2 | 378 | 0.0053 | -46 | c.134 others(65): Show |
PRMT3 | ENSG00000185238.13 | transcript | ENST00000331079.11 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36351571 | TTATATAA others(39): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0103 others(35): Show |
38 | 267 | 0.1423 | -46 | c.-12 others(67): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5_chr22_44697204_44742681 | 44698282 | ACTCTGGT others(39): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG03486.hp1 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0026a0003c0007t0025 | a0001c0002t0026g0062 a0003c0007t0025g0064 |
2 | 440 | 0.0045 | -46 | c.-41 others(57): Show |
PRR5 | ENSG00000186654.21 | transcript | ENST00000336985.11 | protein_coding | 3921 | chr22 | TogoVar | |||||||
PRR5_chr22_44697204_44742681 | 44698300 | ATGTGTGA others(39): Show |
A | upstream_gene_variant | MODIFIER | NA18948.hp2 NA19087.hp1 |
a0002a0006 | a0002c0003a0006c0013 | a0002c0003t0002a0006c0013t0001 | a0002c0003t0002g0337 a0006c0013t0001g0378 |
2 | 440 | 0.0045 | -46 | c.-41 others(57): Show |
PRR5 | ENSG00000186654.21 | transcript | ENST00000336985.11 | protein_coding | 3903 | chr22 | TogoVar | |||||||
PRR5_chr22_44697204_44742681 | 44703310 | CGGGAGGC others(39): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01168.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0006a0001c0002t0006a0001c0002t0011others(2): Show | a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 others(8): Show |
11 | 440 | 0.0250 | -46 | c.134 others(61): Show |
PRR5 | ENSG00000186654.21 | transcript | ENST00000336985.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRSS50_chr3_46707117_46722869 | 46716789 | GATTCGTG others(39): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 418 | 0.0024 | -46 | c.307 others(61): Show |
PRSS50 | ENSG00000283706.2 | transcript | ENST00000315170.13 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
PRSS57_chr19_680546_700452 | 682330 | GGTCTAGC others(39): Show |
G | downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0113 | 1 | 440 | 0.0023 | -46 | c.*33 others(57): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3215 | chr19 | TogoVar | |||||||
PRX_chr19_40388768_40418378 | 40399859 | CTTTCTTT others(39): Show |
C | intron_variant | MODIFIER | HG03041.hp1 NA18522.hp1 |
a0014 | a0014c0034a0014c0035 | a0014c0034t0001a0014c0035t0001 | a0014c0034t0001g0082 a0014c0035t0001g0114 |
2 | 304 | 0.0066 | -46 | c.185 others(63): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 5/6 | chr19 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865224 | TTATATAT others(39): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0133 a0001c0001t0022g0191 |
2 | 183 | 0.0109 | -46 | c.163 others(65): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865246 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0184 | 1 | 194 | 0.0052 | -46 | c.163 others(65): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PTDSS2_chr11_445279_496399 | 484925 | TGTAAACT others(39): Show |
T | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 344 | 0.0029 | -46 | c.436 others(63): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTGER1_chr19_14467466_14480354 | 14480143 | CACCCCGT others(39): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023 | 1 | 406 | 0.0025 | -46 | c.-49 others(57): Show |
PTGER1 | ENSG00000160951.4 | transcript | ENST00000292513.4 | protein_coding | 4790 | chr19 | TogoVar | |||||||
PTGFR_chr1_78485974_78545701 | 78532402 | ATATGTGT others(39): Show |
A | intron_variant | MODIFIER | HG02258.hp2 NA18522.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0026a0004c0006t0032 | a0001c0001t0026g0255 a0004c0006t0032g0145 |
2 | 382 | 0.0052 | -46 | c.799 others(63): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTN_chr7_137222341_137348733 | 137233920 | GTATATAT others(39): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0174 |
2 | 294 | 0.0068 | -46 | c.452 others(63): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
PTP4A2_chr1_31901421_31943368 | 31908113 | AATATATA others(39): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02698.hp1 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0218 a0001c0001t0003g0197 |
2 | 286 | 0.0070 | -46 | c.*69 others(55): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 693 | chr1 | TogoVar | ||||||
PTPN12_chr7_77532295_77645069 | 77533973 | GGGTCTGA others(39): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00735.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(32): Show |
35 | 308 | 0.1136 | -46 | c.-35 others(57): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 3321 | chr7 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8726588 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0017 | 1 | 14 | 0.0714 | -46 | c.64+ others(61): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 12/45 | chr9 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61738267 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0036 | 1 | 92 | 0.0109 | -46 | c.86- others(63): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRO_chr12_15317508_15603331 | 15513111 | GGAAGGAA others(39): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0061 | 1 | 161 | 0.0062 | -46 | c.146 others(65): Show |
PTPRO | ENSG00000151490.15 | transcript | ENST00000281171.9 | protein_coding | 7/26 | chr12 | TogoVar | |||||||
PTTG1IP_chr21_44844598_44878690 | 44859388 | CGCACACA others(39): Show |
C | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 442 | 0.0023 | -46 | c.277 others(63): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 3/5 | chr21 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972260 | AAAGAAAA others(39): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0024 a0001c0002t0001g0103 a0001c0002t0001g0252 others(2): Show |
5 | 270 | 0.0185 | -46 | c.150 others(65): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44661248 | CCAGCATT others(39): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | NA19054.hp2 | a0009 | a0009c0009 | a0009c0009t0099 | a0009c0009t0099g0079 | 1 | 410 | 0.0024 | -46 | c.115 others(58): Show |
p.Ser others(19): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 7/8 | 1151/1254 | 384/417 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||
PXDN_chr2_1626887_1749515 | 1703971 | GGACAACT others(39): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 320 | 0.0031 | -46 | c.201 others(65): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXMP4_chr20_33697758_33725310 | 33701578 | ACCCCGTC others(39): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01891.hp2 HG02486.hp2 others(7): Show |
a0002a0007 | a0002c0002a0007c0006 | a0002c0002t0021a0002c0002t0023a0002c0002t0030others(3): Show | a0002c0002t0021g0127 a0002c0002t0021g0129 a0002c0002t0021g0164 others(5): Show |
10 | 386 | 0.0259 | -46 | c.*60 others(57): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 1179 | chr20 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141248642 | TGTATATA others(39): Show |
T | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 378 | 0.0026 | -46 | c.-53 others(65): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141266628 | TGAGAGAG others(39): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0217 a0001c0001t0009g0218 |
2 | 382 | 0.0052 | -46 | c.79+ others(61): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PYROXD1_chr12_21432655_21476250 | 21449496 | TAAAGTGA others(39): Show |
T | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0133 | 1 | 414 | 0.0024 | -46 | c.286 others(59): Show |
PYROXD1 | ENSG00000121350.16 | transcript | ENST00000240651.14 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RAB37_chr17_74732256_74752335 | 74743845 | TTGCTGAT others(39): Show |
T | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 430 | 0.0023 | -46 | c.367 others(61): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 5/8 | chr17 | TogoVar |