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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDLIM1_chr10_95232572_95296003 | 95290993 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01070.hp2 HG01071.hp2 HG01256.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0012a0002c0003t0007 | a0001c0001t0012g0326a0002c0003t0007g0010a0002c0003t0007g0327 | 4 | 338 | 0.0118 | 0 | c.-78 others(3): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 1/7 | chr10 | TogoVar | ||||||
PDLIM2_chr8_22575475_22599298 | 22580546 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0164 | 1 | 380 | 0.0026 | 0 | c.-59 others(3): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
PDLIM2_chr8_22575475_22599298 | 22580559 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01069.hp1 HG01243.hp1 NA19030.hp1 |
a0009a0010a0011 | a0009c0013a0010c0015a0011c0014 | a0009c0013t0004a0010c0015t0004a0011c0014t0006 | a0009c0013t0004g0273a0010c0015t0004g0275a0011c0014t0006g0274 | 3 | 380 | 0.0079 | 0 | c.-46 others(3): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
PDLIM4_chr5_132252696_132278454 | 132257713 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02723.hp2 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0041 | 1 | 410 | 0.0024 | 0 | c.-22 others(3): Show |
PDLIM4 | ENSG00000131435.13 | transcript | ENST00000253754.8 | protein_coding | 1/7 | chr5 | TogoVar | ||||||
PDLIM7_chr5_177478394_177502604 | 177496519 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02055.hp2 HG02622.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289a0001c0001t0003g0305a0001c0001t0003g0306 | 3 | 440 | 0.0068 | 0 | c.-7C others(2): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 2/13 | chr5 | TogoVar | ||||||
PDPN_chr1_13578832_13622957 | 13584026 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02886.hp1 HG06807.hp1 NA20129.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0022a0003c0004t0022 | a0001c0001t0022g0154a0003c0004t0022g0153a0003c0004t0022g0408 | 3 | 446 | 0.0067 | 0 | c.-8C others(2): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107459374 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0260 | 1 | 260 | 0.0039 | 0 | c.-89 others(3): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43719252 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0221 | 1 | 358 | 0.0028 | 0 | c.-43 others(3): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 1/11 | chr21 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31639335 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp1 HG02280.hp2 HG02922.hp1 others(2): Show |
a0001a0006 | a0001c0001a0001c0034a0001c0035others(2): Show | a0001c0001t0041a0001c0034t0019a0001c0035t0039others(2): Show | a0001c0001t0041g0210a0001c0034t0019g0212a0001c0035t0039g0209others(2): Show | 5 | 216 | 0.0232 | 0 | c.-46 others(4): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117375403 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp1 HG03139.hp2 |
a0005 | a0005c0007 | a0005c0007t0066a0005c0007t0067 | a0005c0007t0066g0321a0005c0007t0067g0320 | 2 | 322 | 0.0062 | 0 | c.-17 others(4): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47190022 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02615.hp1 HG02622.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022a0001c0001t0003g0041a0001c0001t0003g0042 | 5 | 426 | 0.0117 | 0 | c.-90 others(3): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77285044 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02040.hp1 NA18989.hp2 |
a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0220a0002c0002t0033g0267 | 2 | 326 | 0.0061 | 0 | c.-50 others(4): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 4/10 | chr15 | TogoVar | ||||||
PEBP1_chr12_118131124_118150584 | 118136150 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01256.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0021 | a0001c0001t0020g0033a0001c0001t0021g0033 | 2 | 426 | 0.0047 | 0 | c.-60 others(3): Show |
PEBP1 | ENSG00000089220.5 | transcript | ENST00000261313.3 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22927888 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(28): Show |
a0001a0002a0003others(5): Show | a0001c0005a0002c0014a0003c0011others(5): Show | a0001c0005t0005a0001c0005t0007a0002c0014t0005others(7): Show | a0001c0005t0005g0004a0001c0005t0005g0006a0001c0005t0005g0007others(28): Show | 31 | 278 | 0.1115 | 0 | c.-72 others(3): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
PELI1_chr2_64087652_64149420 | 64144163 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00639.hp1 HG01070.hp2 HG01123.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0227a0001c0001t0004g0229a0001c0002t0004g0035others(4): Show | 8 | 304 | 0.0263 | 0 | c.-15 others(4): Show |
PELI1 | ENSG00000197329.12 | transcript | ENST00000358912.5 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
PELI1_chr2_64087652_64149420 | 64144235 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02895.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013 | a0001c0001t0012g0039a0001c0001t0013g0038 | 2 | 304 | 0.0066 | 0 | c.-22 others(4): Show |
PELI1 | ENSG00000197329.12 | transcript | ENST00000358912.5 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
PELO_chr5_52782916_52809044 | 52800075 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0001 | 1 | 442 | 0.0023 | 0 | c.-32 others(4): Show |
PELO | ENSG00000152684.11 | transcript | ENST00000274311.3 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
PELO_chr5_52782916_52809044 | 52800110 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0089 | 1 | 442 | 0.0023 | 0 | c.-28 others(4): Show |
PELO | ENSG00000152684.11 | transcript | ENST00000274311.3 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
PER2_chr2_238239044_238293610 | 238277948 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp2 HG00438.hp2 HG00642.hp1 others(36): Show |
a0001a0005 | a0001c0004a0005c0009 | a0001c0004t0004a0001c0004t0009a0001c0004t0017others(3): Show | a0001c0004t0004g0003a0001c0004t0004g0006a0001c0004t0004g0012others(25): Show | 39 | 370 | 0.1054 | 0 | c.-12 others(3): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 2/23 | chr2 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7784740 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02622.hp1 | a0011 | a0011c0018 | a0011c0018t0017 | a0011c0018t0017g0181 | 1 | 410 | 0.0024 | 0 | c.-13 others(4): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 2/22 | chr1 | TogoVar | ||||||
PERCC1_chr16_1426078_1439441 | 1432563 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0003 | 1 | 378 | 0.0027 | 0 | c.-31 others(3): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 981157 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0208 | 1 | 408 | 0.0025 | 0 | c.-12 others(4): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
PES1_chr22_30571625_30596910 | 30591874 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(175): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0013a0003c0003others(6): Show | a0001c0001t0002a0001c0013t0002a0003c0003t0002others(6): Show | a0001c0001t0002g0001a0001c0001t0002g0006a0001c0001t0002g0009others(63): Show | 178 | 432 | 0.4120 | 0 | c.-41 others(3): Show |
PES1 | ENSG00000100029.18 | transcript | ENST00000354694.12 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
PEX11A_chr15_89676535_89695754 | 89690704 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0078 | 1 | 432 | 0.0023 | 0 | c.-72 others(3): Show |
PEX11A | ENSG00000166821.9 | transcript | ENST00000300056.8 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
PEX11A_chr15_89676535_89695754 | 89690738 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0003a0001c0001t0002g0011a0001c0001t0002g0015others(10): Show | 53 | 432 | 0.1227 | 0 | c.-10 others(4): Show |
PEX11A | ENSG00000166821.9 | transcript | ENST00000300056.8 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35578448 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02970.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0018 | 2 | 436 | 0.0046 | 0 | c.-42 others(4): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
PEX26_chr22_18072990_18110396 | 18078110 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0195 | a0001c0001t0195g0162 | 1 | 398 | 0.0025 | 0 | c.-26 others(4): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
PEX3_chr6_143445805_143495616 | 143451039 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02572.hp2 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0016 | 3 | 412 | 0.0073 | 0 | c.-4A others(2): Show |
PEX3 | ENSG00000034693.15 | transcript | ENST00000367591.5 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
PEX7_chr6_136817592_136918934 | 136822601 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02615.hp1 HG02818.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0310a0001c0001t0006g0311a0001c0001t0006g0312others(1): Show | 4 | 330 | 0.0121 | 0 | c.-65 others(3): Show |
PEX7 | ENSG00000112357.14 | transcript | ENST00000318471.5 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
PFDN5_chr12_53290542_53304450 | 53295547 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp2 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 5 | 382 | 0.0131 | 0 | c.-21 others(3): Show |
PFDN5 | ENSG00000123349.15 | transcript | ENST00000334478.9 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
PFDN6_chr6_33284601_33295933 | 33289659 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 399 | 0.0025 | 0 | c.-19 others(4): Show |
PFDN6 | ENSG00000204220.12 | transcript | ENST00000374606.10 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
PFKFB3_chr10_6197932_6240532 | 6203027 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0089 | a0001c0002t0089g0406 | 1 | 432 | 0.0023 | 0 | c.-23 others(4): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/15 | chr10 | TogoVar | ||||||
PFKL_chr21_44295053_44332373 | 44300081 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0241 | 1 | 392 | 0.0026 | 0 | c.-25 others(3): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 1/22 | chr21 | TogoVar | ||||||
PFN1_chr17_4940652_4953530 | 4948509 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0050 | 1 | 432 | 0.0023 | 0 | c.-11 others(4): Show |
PFN1 | ENSG00000108518.8 | transcript | ENST00000225655.6 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
PFN2_chr3_149959904_149975895 | 149970861 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0066 | 1 | 434 | 0.0023 | 0 | c.-5C others(2): Show |
PFN2 | ENSG00000070087.15 | transcript | ENST00000239940.12 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
PFN4_chr2_24109809_24128334 | 24123186 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02622.hp1 HG02723.hp1 HG03486.hp1 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0024 | 3 | 358 | 0.0084 | 0 | c.-81 others(3): Show |
PFN4 | ENSG00000176732.7 | transcript | ENST00000313213.5 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132710858 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0059 | 1 | 394 | 0.0025 | 0 | c.-19 others(3): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
PGAP4_chr9_101468170_101492173 | 101487169 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0159 | 1 | 460 | 0.0022 | 0 | c.-29 others(4): Show |
PGAP4 | ENSG00000165152.9 | transcript | ENST00000374848.8 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 381905 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0175 | 1 | 376 | 0.0027 | 0 | c.-84 others(3): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
PGBD4_chr15_34097083_34113686 | 34102123 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0000 | 1 | 400 | 0.0025 | 0 | c.-40 others(4): Show |
PGBD4 | ENSG00000182405.6 | transcript | ENST00000397766.4 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
PGF_chr14_74936834_74960597 | 74955468 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0155 | 1 | 406 | 0.0025 | 0 | c.-22 others(4): Show |
PGF | ENSG00000119630.14 | transcript | ENST00000555567.6 | protein_coding | 1/7 | chr14 | TogoVar | ||||||
PGK1_chrX_78099248_78134295 | 78104281 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0039 | 1 | 308 | 0.0033 | 0 | c.-60 others(3): Show |
PGK1 | ENSG00000102144.15 | transcript | ENST00000373316.5 | protein_coding | 1/11 | chrX | TogoVar | ||||||
PGLYRP1_chr19_46014153_46028053 | 46023043 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02615.hp2 HG03098.hp2 |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0066a0004c0004t0006g0067 | 2 | 456 | 0.0044 | 0 | c.-22 others(3): Show |
PGLYRP1 | ENSG00000008438.5 | transcript | ENST00000008938.5 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
PGLYRP4_chr1_153325120_153353841 | 153348723 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18939.hp2 | a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0068 | 1 | 392 | 0.0026 | 0 | c.-24 others(4): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PGM3_chr6_83159873_83198265 | 83193235 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03453.hp2 | a0004 | a0004c0006 | a0004c0006t0028 | a0004c0006t0028g0161 | 1 | 344 | 0.0029 | 0 | c.-59 others(3): Show |
PGM3 | ENSG00000013375.17 | transcript | ENST00000513973.6 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 99005544 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01243.hp2 HG02723.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0341a0001c0001t0007g0342a0001c0001t0007g0343others(4): Show | 7 | 398 | 0.0176 | 0 | c.-25 others(4): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 99007367 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00639.hp2 HG01070.hp1 HG01074.hp1 others(33): Show |
a0000a0001a0002 | a0000c0002a0001c0001a0001c0008others(1): Show | a0000c0002t0005a0000c0002t0037a0001c0001t0005others(6): Show | a0000c0002t0005g0008a0000c0002t0005g0382a0000c0002t0005g0383others(32): Show | 36 | 398 | 0.0905 | 0 | c.-37 others(4): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 99007708 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01243.hp2 HG02723.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0341a0001c0001t0007g0342a0001c0001t0007g0343others(4): Show | 7 | 398 | 0.0176 | 0 | c.-71 others(4): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 99007765 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02809.hp1 | a0000 | a0000c0002 | a0000c0002t0017 | a0000c0002t0017g0012 | 1 | 398 | 0.0025 | 0 | c.-77 others(4): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
PGPEP1L_chr15_98963229_99012792 | 99007786 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(341): Show |
a0000a0001a0002others(3): Show | a0000c0002a0000c0005a0000c0010others(6): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(40): Show | a0000c0002t0001g0001a0000c0002t0001g0003a0000c0002t0001g0004others(335): Show | 344 | 398 | 0.8643 | 0 | c.-79 others(4): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 1/5 | chr15 | TogoVar |