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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLD5_chr1_242077986_242529697 | 242524407 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02615.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0054 | a0001c0001t0053g0121a0001c0001t0054g0122 | 2 | 188 | 0.0106 | 0 | c.-13 others(4): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242524662 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0188 | 1 | 188 | 0.0053 | 0 | c.-38 others(4): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48868194 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03491.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0104a0001c0001t0011g0105 | 2 | 300 | 0.0067 | 0 | c.-11 others(4): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 1/20 | chr19 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19129736 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00558.hp1 HG00621.hp1 HG01243.hp2 others(47): Show |
a0001a0003a0007 | a0001c0001a0001c0009a0003c0007others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0014others(7): Show | a0001c0001t0003g0017a0001c0001t0003g0018a0001c0001t0003g0019others(47): Show | 50 | 316 | 0.1582 | 0 | c.-64 others(3): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 1/32 | chr12 | TogoVar | ||||||
PLEKHA6_chr1_204213853_204364929 | 204359815 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0004 | 1 | 270 | 0.0037 | 0 | c.-21 others(4): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 1/23 | chr1 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 17014408 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02717.hp1 HG02809.hp1 HG03225.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0010a0002c0004t0017a0002c0004t0018 | a0002c0004t0010g0240a0002c0004t0010g0242a0002c0004t0010g0243others(2): Show | 5 | 244 | 0.0205 | 0 | c.-7G others(2): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 1/27 | chr11 | TogoVar | ||||||
PLEKHA8_chr7_30023412_30089650 | 30028576 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02451.hp2 HG02647.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0025a0001c0002t0026 | a0001c0002t0009g0150a0001c0002t0009g0151a0001c0002t0009g0152others(2): Show | 5 | 234 | 0.0214 | 0 | c.-18 others(4): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150650781 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02451.hp1 | a0001 | a0001c0026 | a0001c0026t0018 | a0001c0026t0018g0015 | 1 | 272 | 0.0037 | 0 | c.-10 others(4): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 2/17 | chr6 | TogoVar | ||||||
PLEKHG2_chr19_39407669_39433415 | 39412680 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(58): Show |
a0001a0002a0003others(5): Show | a0001c0005a0001c0049a0002c0004others(8): Show | a0001c0005t0006a0001c0005t0010a0001c0005t0026others(18): Show | a0001c0005t0006g0029a0001c0005t0006g0051a0001c0005t0006g0111others(36): Show | 61 | 414 | 0.1473 | 0 | c.-75 others(4): Show |
PLEKHG2 | ENSG00000090924.15 | transcript | ENST00000425673.6 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
PLEKHG6_chr12_6305682_6333506 | 6310706 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0002 | 1 | 448 | 0.0022 | 0 | c.-21 others(4): Show |
PLEKHG6 | ENSG00000008323.16 | transcript | ENST00000684764.1 | protein_coding | 1/16 | chr12 | TogoVar | ||||||
PLEKHM3_chr2_207816288_208030527 | 208025462 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01884.hp2 HG02145.hp1 HG02486.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0058a0001c0002t0059 | a0001c0002t0006g0193a0001c0002t0006g0194a0001c0002t0006g0195others(5): Show | 8 | 200 | 0.0400 | 0 | c.-39 others(4): Show |
PLEKHM3 | ENSG00000178385.15 | transcript | ENST00000427836.8 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 966521 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03688.hp1 NA19000.hp2 NA19085.hp1 |
a0001a0017 | a0001c0001a0017c0043 | a0001c0001t0016a0017c0043t0016 | a0001c0001t0016g0037a0001c0001t0016g0048a0017c0043t0016g0100 | 3 | 422 | 0.0071 | 0 | c.-11 others(3): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
PLEKHO2_chr15_64836915_64873002 | 64841932 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18955.hp1 NA19004.hp2 NA19066.hp2 |
a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0003a0002c0002t0013g0028 | 3 | 322 | 0.0093 | 0 | c.-85 others(3): Show |
PLEKHO2 | ENSG00000241839.10 | transcript | ENST00000323544.5 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
PLK5_chr19_1519077_1541046 | 1525643 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02976.hp2 HG03130.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0058 | a0001c0001t0031g0036a0001c0001t0031g0238a0001c0001t0058g0036 | 3 | 430 | 0.0070 | 0 | c.-38 others(4): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3/14 | chr19 | TogoVar | ||||||
PLP1_chrX_103771840_103797619 | 103776965 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01934.hp1 HG01993.hp2 NA18956.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0015a0001c0003t0002g0080 | 7 | 317 | 0.0221 | 0 | c.-31 others(3): Show |
PLP1 | ENSG00000123560.14 | transcript | ENST00000621218.5 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PLPP1_chr5_55419854_55539964 | 55534640 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0292 | 1 | 294 | 0.0034 | 0 | c.-11 others(3): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 1/6 | chr5 | TogoVar | ||||||
PLPP1_chr5_55419854_55539964 | 55534713 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0292 | 1 | 294 | 0.0034 | 0 | c.-84 others(3): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 1/6 | chr5 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56579060 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0007 | 1 | 336 | 0.0030 | 0 | c.-44 others(3): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56579074 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0007 | 1 | 336 | 0.0030 | 0 | c.-58 others(3): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PLPP3_chr1_56489761_56584563 | 56579078 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0007 | 1 | 336 | 0.0030 | 0 | c.-62 others(3): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
PLPPR2_chr19_11350432_11370698 | 11355462 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 394 | 0.0025 | 0 | c.-30 others(4): Show |
PLPPR2 | ENSG00000105520.11 | transcript | ENST00000688289.1 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
PLPPR2_chr19_11350432_11370698 | 11355515 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 HG04204.hp2 NA20905.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0001a0002c0002t0005g0011a0002c0002t0005g0022 | 3 | 394 | 0.0076 | 0 | c.-24 others(4): Show |
PLPPR2 | ENSG00000105520.11 | transcript | ENST00000688289.1 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
PLPPR4_chr1_99259492_99314584 | 99264544 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02258.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0021 | a0001c0001t0020g0272a0001c0001t0021g0271 | 2 | 384 | 0.0052 | 0 | c.-50 others(3): Show |
PLPPR4 | ENSG00000117600.14 | transcript | ENST00000370185.9 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
PLRG1_chr4_154530005_154555400 | 154550318 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01884.hp1 HG02451.hp1 HG02622.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0007a0001c0001t0014a0001c0001t0024others(1): Show | a0001c0001t0007g0009a0001c0001t0007g0033a0001c0001t0007g0086others(3): Show | 16 | 430 | 0.0372 | 0 | c.-10 others(3): Show |
PLRG1 | ENSG00000171566.12 | transcript | ENST00000499023.7 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
PLS1_chr3_142591393_142718664 | 142596432 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02056.hp1 NA18971.hp2 NA18973.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0019 | a0001c0002t0010g0047a0001c0002t0010g0048a0001c0002t0010g0058others(1): Show | 4 | 276 | 0.0145 | 0 | c.-11 others(4): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
PLSCR3_chr17_7384727_7399525 | 7394517 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0045 | 1 | 454 | 0.0022 | 0 | c.-19 others(4): Show |
PLSCR3 | ENSG00000187838.17 | transcript | ENST00000619711.5 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
PLXDC1_chr17_39058313_39156637 | 39151632 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp2 HG00558.hp2 HG00673.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0011a0001c0001t0012a0001c0001t0061others(6): Show | a0001c0001t0011g0288a0001c0001t0011g0289a0001c0001t0011g0291others(30): Show | 33 | 320 | 0.1031 | 0 | c.-19 others(4): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
PLXNA2_chr1_208017242_208249384 | 208244332 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00408.hp1 HG01255.hp1 HG01496.hp1 others(6): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0002a0007c0021others(2): Show | a0001c0001t0034a0001c0001t0109a0001c0001t0110others(5): Show | a0001c0001t0034g0309a0001c0001t0109g0310a0001c0001t0110g0311others(6): Show | 9 | 312 | 0.0289 | 0 | c.-77 others(4): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 1/32 | chr1 | TogoVar | ||||||
PML_chr15_73989716_74052827 | 73994729 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18940.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0001 | 1 | 342 | 0.0029 | 0 | c.-84 others(3): Show |
PML | ENSG00000140464.20 | transcript | ENST00000268058.8 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
PMPCB_chr7_103292435_103319686 | 103297442 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18955.hp1 NA18957.hp1 |
a0004 | a0004c0004 | a0004c0004t0016 | a0004c0004t0016g0003 | 2 | 436 | 0.0046 | 0 | c.-18 others(3): Show |
PMPCB | ENSG00000105819.15 | transcript | ENST00000249269.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
PNLIPRP3_chr10_116422847_116482957 | 116427887 | T | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(101): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0014t0008others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(94): Show | 104 | 288 | 0.3611 | 0 | c.-12 others(4): Show |
PNLIPRP3 | ENSG00000203837.5 | transcript | ENST00000369230.4 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
PNMA6F_chrX_153312680_153326767 | 153321567 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02622.hp1 HG02895.hp1 HG02897.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0008 | 6 | 331 | 0.0181 | 0 | c.-99 others(3): Show |
PNMA6F | ENSG00000225110.3 | transcript | ENST00000436629.3 | protein_coding | 1/2 | chrX | TogoVar | ||||||
PNMA8A_chr19_46461503_46476563 | 46471524 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(357): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(45): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0071others(62): Show | 360 | 454 | 0.7930 | 0 | c.-26 others(4): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
PNMA8A_chr19_46461503_46476563 | 46471532 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19055.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0053 | a0001c0001t0052g0090a0001c0001t0053g0091 | 2 | 454 | 0.0044 | 0 | c.-27 others(4): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36270133 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0028 | a0002c0002t0028g0079 | 1 | 386 | 0.0026 | 0 | c.-32 others(4): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/9 | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36270170 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0034 | 1 | 386 | 0.0026 | 0 | c.-29 others(4): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/9 | chr6 | TogoVar | ||||||
PNP_chr14_20464406_20482089 | 20469442 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp2 HG03130.hp2 NA18522.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0048a0002c0002t0003g0063a0002c0002t0003g0069others(1): Show | 4 | 448 | 0.0089 | 0 | c.-83 others(3): Show |
PNP | ENSG00000198805.13 | transcript | ENST00000361505.10 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
PNRC1_chr6_89075751_89090160 | 89080829 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp2 | a0007 | a0007c0009 | a0007c0009t0019 | a0007c0009t0019g0001 | 1 | 396 | 0.0025 | 0 | c.-66 others(3): Show |
PNRC1 | ENSG00000146278.11 | transcript | ENST00000336032.4 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
PNRC2_chr1_23954828_23968462 | 23959980 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02895.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0008 | 2 | 412 | 0.0049 | 0 | c.-24 others(4): Show |
PNRC2 | ENSG00000189266.13 | transcript | ENST00000334351.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
POC5_chr5_75669124_75722437 | 75717414 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00735.hp1 HG01109.hp1 HG01167.hp2 others(19): Show |
a0004 | a0004c0005a0004c0014 | a0004c0005t0003a0004c0014t0003 | a0004c0005t0003g0007a0004c0005t0003g0035a0004c0005t0003g0036others(14): Show | 22 | 380 | 0.0579 | 0 | c.-12 others(4): Show |
POC5 | ENSG00000152359.15 | transcript | ENST00000428202.7 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
PODNL1_chr19_13926187_13943417 | 13938378 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(109): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0011a0001c0016others(4): Show | a0001c0001t0003a0001c0011t0008a0001c0016t0003others(4): Show | a0001c0001t0003g0003a0001c0001t0003g0005a0001c0001t0003g0006others(34): Show | 112 | 432 | 0.2593 | 0 | c.-19 others(4): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
PODNL1_chr19_13926187_13943417 | 13938386 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03471.hp1 | a0004 | a0004c0022 | a0004c0022t0014 | a0004c0022t0014g0158 | 1 | 432 | 0.0023 | 0 | c.-20 others(4): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
PODNL1_chr19_13926187_13943417 | 13938390 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0159 | 1 | 432 | 0.0023 | 0 | c.-20 others(4): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
POGLUT2_chr13_102779281_102803976 | 102798700 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(44): Show |
a0002a0005a0006 | a0002c0003a0005c0008a0006c0005 | a0002c0003t0002a0002c0003t0004a0002c0003t0005others(4): Show | a0002c0003t0002g0012a0002c0003t0002g0013a0002c0003t0002g0014others(28): Show | 47 | 436 | 0.1078 | 0 | c.-30 others(3): Show |
POGLUT2 | ENSG00000134901.14 | transcript | ENST00000376004.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
POGLUT2_chr13_102779281_102803976 | 102798958 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00639.hp1 HG00741.hp1 HG01168.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0053a0002c0002t0003g0253a0002c0002t0003g0254others(9): Show | 13 | 436 | 0.0298 | 0 | c.-28 others(4): Show |
POGLUT2 | ENSG00000134901.14 | transcript | ENST00000376004.5 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
POGZ_chr1_151397724_151464494 | 151459416 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0313 | 1 | 320 | 0.0031 | 0 | c.-26 others(4): Show |
POGZ | ENSG00000143442.24 | transcript | ENST00000271715.7 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
POLA2_chr11_65256962_65303685 | 65261966 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0010 | a0001c0001t0003g0002a0001c0001t0003g0005a0001c0001t0003g0012others(50): Show | 65 | 284 | 0.2289 | 0 | c.-32 others(4): Show |
POLA2 | ENSG00000014138.10 | transcript | ENST00000265465.8 | protein_coding | 1/18 | chr11 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89334785 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0260 | 1 | 398 | 0.0025 | 0 | c.-27 others(4): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 1/23 | chr15 | TogoVar | ||||||
POLL_chr10_101573882_101593257 | 101588206 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0051 | 1 | 394 | 0.0025 | 0 | c.-43 others(4): Show |
POLL | ENSG00000166169.17 | transcript | ENST00000370162.8 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
POLM_chr7_44067062_44087530 | 44082491 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0099 | 1 | 394 | 0.0025 | 0 | c.-53 others(3): Show |
POLM | ENSG00000122678.17 | transcript | ENST00000242248.10 | protein_coding | 1/11 | chr7 | TogoVar |