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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIEZO2_chr18_10665247_11154569 | 10795378 | TATTTTAT others(28): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0146 | 1 | 156 | 0.0064 | -35 | c.152 others(52): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 12/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10944488 | CATATATA others(28): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01175.hp1 others(13): Show |
a0001a0002a0003others(9): Show | a0001c0024a0001c0040a0001c0065others(12): Show | a0001c0024t0007a0001c0040t0001a0001c0065t0002others(12): Show | a0001c0024t0007g0002 a0001c0040t0001g0107 a0001c0065t0002g0003 others(13): Show |
16 | 70 | 0.2286 | -35 | c.287 others(54): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 3/55 | chr18 | TogoVar | |||||||
PIK3CB_chr3_138647698_138839928 | 138693936 | AATATATA others(28): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 162 | 0.0062 | -35 | c.189 others(52): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 14/23 | chr3 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22538324 | GGAGATGA others(28): Show |
G | intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0139 | 1 | 204 | 0.0049 | -35 | c.114 others(54): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3647111 | GGGGAGGG others(28): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0027 | a0001c0027t0026 | a0001c0027t0026g0323 | 1 | 330 | 0.0030 | -35 | c.126 others(52): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 10/17 | chr19 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637153 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0087 | 1 | 324 | 0.0031 | -35 | c.321 others(54): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637155 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0224 a0001c0001t0009g0086 |
2 | 316 | 0.0063 | -35 | c.321 others(54): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637157 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012 | a0001c0001t0009g0085 a0001c0001t0012g0114 |
2 | 300 | 0.0067 | -35 | c.321 others(54): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2091307 | GGACGCTG others(28): Show |
G | intron_variant | MODIFIER | NA18983.hp2 | a0065 | a0065c0073 | a0065c0073t0001 | a0065c0073t0001g0061 | 1 | 214 | 0.0047 | -35 | c.117 others(53): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 42/45 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100314989 | AGGAAGGA others(28): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 287 | 0.0035 | -35 | c.349 others(54): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKLR_chr1_155284293_155306438 | 155305111 | TTACAGGG others(28): Show |
T | upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0034 | 1 | 310 | 0.0032 | -35 | c.-37 others(46): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 3674 | chr1 | TogoVar | |||||||
PLA1A_chr3_119592885_119634811 | 119632175 | TTCTATAT others(28): Show |
T | downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0128 | 1 | 418 | 0.0024 | -35 | c.*27 others(46): Show |
PLA1A | ENSG00000144837.9 | transcript | ENST00000273371.9 | protein_coding | 2365 | chr3 | TogoVar | |||||||
PLA2G12A_chr4_109704989_109735070 | 109705982 | AAAAAAAA others(28): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG06807.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0008a0003c0006t0030 | a0001c0001t0008g0078 a0003c0006t0030g0055 |
2 | 410 | 0.0049 | -35 | c.*83 others(46): Show |
PLA2G12A | ENSG00000123739.11 | transcript | ENST00000243501.10 | protein_coding | 4006 | chr4 | TogoVar | |||||||
PLA2G2E_chr1_19915009_19928617 | 19922243 | GCCTCCAC others(28): Show |
G | intron_variant | MODIFIER | HG03209.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 2 | 408 | 0.0049 | -35 | c.286 others(48): Show |
PLA2G2E | ENSG00000188784.4 | transcript | ENST00000375116.3 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PLAAT5_chr11_63456404_63496167 | 63483785 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02896.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 others(3): Show |
6 | 266 | 0.0226 | -35 | c.345 others(52): Show |
PLAAT5 | ENSG00000168004.10 | transcript | ENST00000540857.6 | protein_coding | 3/5 | chr11 | TogoVar | |||||||
PLAAT5_chr11_63456404_63496167 | 63483801 | GTATATAT others(28): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 166 | 0.0060 | -35 | c.345 others(52): Show |
PLAAT5 | ENSG00000168004.10 | transcript | ENST00000540857.6 | protein_coding | 3/5 | chr11 | TogoVar | |||||||
PLB1_chr2_28491060_28649142 | 28539983 | CACCCCCC others(28): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02622.hp2 HG03195.hp2 others(1): Show |
a0002a0019 | a0002c0001a0019c0028 | a0002c0001t0002a0019c0028t0008 | a0002c0001t0002g0094 a0002c0001t0002g0095 a0002c0001t0002g0230 others(1): Show |
4 | 264 | 0.0152 | -35 | c.699 others(50): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 11/57 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLCB4_chr20_9064087_9485808 | 9222036 | GTTTTATT others(28): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG02451.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0046 others(10): Show |
13 | 17 | 0.7647 | -35 | c.-16 others(52): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCG2_chr16_81774291_81967685 | 81824031 | TTCCTTTC others(28): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG03139.hp2 |
a0001a0008 | a0001c0014a0001c0017a0008c0074 | a0001c0014t0042a0001c0017t0008a0008c0074t0025 | a0001c0014t0042g0023 a0001c0017t0008g0015 a0008c0074t0025g0239 |
3 | 324 | 0.0093 | -35 | c.194 others(54): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PLCL1_chr2_197799593_198154863 | 198091685 | AAAAATAA others(28): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02145.hp2 HG02615.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0047a0001c0003t0006a0001c0004t0001others(5): Show | a0001c0001t0047g0055 a0001c0003t0006g0045 a0001c0004t0001g0119 others(7): Show |
10 | 29 | 0.3448 | -35 | c.291 others(54): Show |
PLCL1 | ENSG00000115896.17 | transcript | ENST00000428675.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLCXD3_chr5_41301952_41515601 | 41471838 | CTCCCCTC others(28): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0028a0001c0002t0022 | a0001c0001t0001g0106 a0001c0001t0001g0142 a0001c0001t0001g0144 others(2): Show |
5 | 238 | 0.0210 | -35 | c.103 others(54): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
PLCXD3_chr5_41301952_41515601 | 41471848 | CTCCCCTC others(28): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02615.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0126 a0001c0001t0002g0076 a0001c0001t0003g0071 others(5): Show |
8 | 232 | 0.0345 | -35 | c.103 others(54): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764876 | AAAGAAAG others(28): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02809.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0028 | a0002c0003t0003g0259 a0002c0003t0028g0161 |
2 | 280 | 0.0071 | -35 | c.-31 others(54): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764879 | GAAAGAAA others(28): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0041 | 1 | 286 | 0.0035 | -35 | c.-31 others(54): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLEKHA8_chr7_30023412_30089650 | 30056325 | TATATATA others(28): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0191 a0001c0002t0003g0180 a0001c0002t0003g0181 others(1): Show |
4 | 232 | 0.0172 | -35 | c.103 others(53): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150674618 | TTCTCTCT others(28): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0015 | a0015c0057 | a0015c0057t0001 | a0015c0057t0001g0227 | 1 | 266 | 0.0038 | -35 | c.-99 others(54): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150810496 | GAGGGAAA others(28): Show |
G | intron_variant | MODIFIER | HG01515.hp2 HG01975.hp2 HG01981.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0016others(2): Show | a0001c0001t0002a0001c0006t0008a0001c0016t0001others(2): Show | a0001c0001t0002g0062 a0001c0006t0008g0146 a0001c0016t0001g0254 others(2): Show |
5 | 227 | 0.0220 | -35 | c.127 others(52): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG2_chr19_39407669_39433415 | 39415583 | AGGGAGGA others(28): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG03486.hp2 |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0010a0002c0004t0004a0002c0004t0058 | a0001c0005t0010g0126 a0002c0004t0004g0125 a0002c0004t0058g0124 |
3 | 412 | 0.0073 | -35 | c.479 others(50): Show |
PLEKHG2 | ENSG00000090924.15 | transcript | ENST00000425673.6 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977558 | TCCCGCTC others(28): Show |
T | downstream_gene_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0006 | a0002c0006t0038 | a0002c0006t0038g0022 | 1 | 419 | 0.0024 | -35 | c.*29 others(46): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1694 | chr1 | TogoVar | |||||||
PLEK_chr2_68360282_68402453 | 68397593 | TGGCCAAC others(28): Show |
T | downstream_gene_variant | MODIFIER | HG02683.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0143 | 1 | 372 | 0.0027 | -35 | c.*17 others(46): Show |
PLEK | ENSG00000115956.10 | transcript | ENST00000234313.8 | protein_coding | 141 | chr2 | TogoVar | |||||||
PLPPR4_chr1_99259492_99314584 | 99312965 | AGCTGGGA others(28): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 382 | 0.0026 | -35 | c.*59 others(46): Show |
PLPPR4 | ENSG00000117600.14 | transcript | ENST00000370185.9 | protein_coding | 3382 | chr1 | TogoVar | |||||||
PLPPR5_chr1_98885245_99009861 | 98973303 | GGTAAATG others(28): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01358.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0017others(8): Show | a0001c0001t0003g0187 a0001c0001t0004g0240 a0001c0001t0004g0241 others(13): Show |
16 | 278 | 0.0576 | -35 | c.238 others(54): Show |
PLPPR5 | ENSG00000117598.14 | transcript | ENST00000263177.5 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132132433 | TTCTGTTC others(28): Show |
T | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0024 | 1 | 77 | 0.0130 | -35 | c.558 others(52): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 31/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132132438 | TTCTGTTC others(28): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0085 | 1 | 80 | 0.0125 | -35 | c.558 others(52): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 31/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132188988 | GGAAAGGA others(28): Show |
G | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0014 | a0001c0014t0008 | a0001c0014t0008g0034 | 1 | 86 | 0.0116 | -35 | c.285 others(54): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132282608 | CAGAAAAA others(28): Show |
C | intron_variant | MODIFIER | HG02723.hp1 NA18906.hp2 |
a0001 | a0001c0030a0001c0035 | a0001c0030t0017a0001c0035t0007 | a0001c0030t0017g0056 a0001c0035t0007g0007 |
2 | 86 | 0.0233 | -35 | c.150 others(56): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 4/31 | chr7 | TogoVar | |||||||
PLXNC1_chr12_94143577_94312675 | 94144363 | CATGCTAT others(28): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0016 a0001c0014t0003g0017 |
2 | 93 | 0.0215 | -35 | c.-46 others(46): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 4213 | chr12 | TogoVar | |||||||
PMP2_chr8_81435326_81452439 | 81450027 | AAGATCCA others(28): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 426 | 0.0023 | -35 | c.-26 others(46): Show |
PMP2 | ENSG00000147588.7 | transcript | ENST00000256103.3 | protein_coding | 2589 | chr8 | TogoVar | |||||||
PNMA6E_chrX_153390639_153406350 | 153391157 | ACACACAC others(28): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0011 | a0001c0011t0022 | a0001c0011t0022g0085 | 1 | 344 | 0.0029 | -35 | c.*57 others(46): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4481 | chrX | TogoVar | |||||||
POC5_chr5_75669124_75722437 | 75714988 | CCTGTATT others(28): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG03486.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0074 a0001c0004t0001g0077 |
2 | 378 | 0.0053 | -35 | c.-14 others(52): Show |
POC5 | ENSG00000152359.15 | transcript | ENST00000428202.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
POFUT2_chr21_45258935_45292895 | 45291755 | ACACTGCA others(28): Show |
A | upstream_gene_variant | MODIFIER | NA18939.hp2 NA18959.hp2 NA18962.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 others(2): Show |
8 | 434 | 0.0184 | -35 | c.-39 others(46): Show |
POFUT2 | ENSG00000186866.17 | transcript | ENST00000349485.10 | protein_coding | 3861 | chr21 | TogoVar | |||||||
POFUT2_chr21_45258935_45292895 | 45291783 | TCCCACAG others(28): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 433 | 0.0023 | -35 | c.-39 others(46): Show |
POFUT2 | ENSG00000186866.17 | transcript | ENST00000349485.10 | protein_coding | 3889 | chr21 | TogoVar | |||||||
POLE_chr12_132618762_132692342 | 132674845 | CCCTCCCT others(28): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0035 | a0001c0035t0011 | a0001c0035t0011g0160 | 1 | 290 | 0.0034 | -35 | c.122 others(52): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 12/48 | chr12 | TogoVar | |||||||
POLR3A_chr10_77970149_78034515 | 77979362 | GCCCTCTC others(28): Show |
G | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 372 | 0.0027 | -35 | c.402 others(52): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 30/30 | chr10 | TogoVar | |||||||
PORCN_chrX_48503992_48525808 | 48522380 | TCCTGTGT others(28): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 295 | 0.0034 | -35 | c.*19 others(46): Show |
PORCN | ENSG00000102312.24 | transcript | ENST00000326194.11 | protein_coding | 1573 | chrX | TogoVar | |||||||
POT1_chr7_124817386_124934825 | 124919975 | TACTACCT others(28): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(99): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0097 others(90): Show |
102 | 344 | 0.2965 | -35 | c.-22 others(54): Show |
POT1 | ENSG00000128513.16 | transcript | ENST00000357628.8 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
POU2F1_chr1_167215886_167432340 | 167343632 | ATTTTTTT others(28): Show |
A | intron_variant | MODIFIER | HG03669.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0035 | a0001c0001t0002g0069 a0001c0001t0035g0079 |
2 | 124 | 0.0161 | -35 | c.127 others(54): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46146416 | AAAGAGAA others(28): Show |
A | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 90 | 0.0111 | -35 | c.-44 others(46): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4109 | chr22 | TogoVar | |||||||
PPARGC1A_chr4_23787021_23895047 | 23859780 | CAAAATAA others(28): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00639.hp2 others(75): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(26): Show | a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0008g0051 others(75): Show |
78 | 89 | 0.8764 | -35 | c.234 others(54): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
PPARG_chr3_12284070_12439344 | 12324978 | TAAATGCC others(28): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0095 |
3 | 292 | 0.0103 | -35 | c.-9+ others(52): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 2/7 | chr3 | TogoVar |