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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIK3R2_chr19_18148163_18175532 | 18165127 | TGGGAGGC others(24): Show |
T | intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0006 | a0003c0006t0008 | a0003c0006t0008g0151 | 1 | 332 | 0.0030 | -31 | c.141 others(50): Show |
PIK3R2 | ENSG00000105647.19 | transcript | ENST00000222254.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8827742 | GGAGAGAG others(24): Show |
G | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 318 | 0.0031 | -31 | c.139 others(48): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 12/19 | chr17 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637157 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 a0001c0001t0001g0237 |
2 | 300 | 0.0067 | -31 | c.321 others(50): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637159 | AAAAAAAT others(24): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 | 1 | 315 | 0.0032 | -31 | c.321 others(50): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67397321 | TTCTGAGA others(24): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0048 | a0001c0001t0026g0192 a0001c0001t0048g0170 |
2 | 216 | 0.0093 | -31 | c.48+ others(48): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3139486 | TTCCCTTC others(24): Show |
T | intron_variant | MODIFIER | HG02970.hp2 HG03486.hp1 |
a0012 | a0012c0023 | a0012c0023t0001 | a0012c0023t0001g0175 a0012c0023t0001g0196 |
2 | 444 | 0.0045 | -31 | c.277 others(48): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 24/26 | chr10 | TogoVar | |||||||
PIWIL2_chr8_22270316_22362568 | 22361394 | CACCACCG others(24): Show |
C | downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 294 | 0.0034 | -31 | c.*58 others(42): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 3827 | chr8 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109352950 | TTATATCT others(24): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023 | a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 others(3): Show |
6 | 344 | 0.0174 | -31 | c.176 others(50): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109352963 | CATCTATA others(24): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(203): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0001g0011 a0001c0001t0001g0196 a0001c0001t0001g0200 others(200): Show |
206 | 344 | 0.5988 | -31 | c.176 others(50): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354058 | GATATCTA others(24): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02647.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020 | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 others(3): Show |
6 | 332 | 0.0181 | -31 | c.176 others(50): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354327 | GATATCTA others(24): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02818.hp1 HG03130.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0004a0004c0005t0001 | a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 others(2): Show |
5 | 344 | 0.0145 | -31 | c.176 others(50): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354359 | ATATCTAG others(24): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG02976.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0025 | a0001c0001t0003g0004 a0001c0001t0003g0177 a0001c0001t0025g0342 |
3 | 343 | 0.0087 | -31 | c.176 others(50): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PKNOX2_chr11_125159751_125438389 | 125248863 | TATATATA others(24): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0143 | 1 | 220 | 0.0045 | -31 | c.-13 others(52): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401316 | CCCCGGCC others(24): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0005 | a0005c0022 | a0005c0022t0001 | a0005c0022t0001g0203 | 1 | 199 | 0.0050 | -31 | c.173 others(48): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401629 | GGCCCCGC others(24): Show |
G | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0085 | 1 | 194 | 0.0052 | -31 | c.173 others(48): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 407261 | GGGCGGGG others(24): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 | 1 | 214 | 0.0047 | -31 | c.*26 others(42): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 2354 | chr11 | TogoVar | |||||||
PLA2G12A_chr4_109704989_109735070 | 109720589 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02280.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 a0001c0001t0004g0021 |
5 | 396 | 0.0126 | -31 | c.209 others(48): Show |
PLA2G12A | ENSG00000123739.11 | transcript | ENST00000243501.10 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
PLA2G12A_chr4_109704989_109735070 | 109720591 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02615.hp1 NA18522.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 4 | 403 | 0.0099 | -31 | c.209 others(48): Show |
PLA2G12A | ENSG00000123739.11 | transcript | ENST00000243501.10 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
PLA2G12A_chr4_109704989_109735070 | 109720601 | AAAAATAT others(24): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 390 | 0.0026 | -31 | c.209 others(48): Show |
PLA2G12A | ENSG00000123739.11 | transcript | ENST00000243501.10 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
PLA2G15_chr16_68240373_68266058 | 68246103 | GGGAAACT others(24): Show |
G | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 268 | 0.0037 | -31 | c.127 others(46): Show |
PLA2G15 | ENSG00000103066.13 | transcript | ENST00000219345.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48046766 | TCTCTGTC others(24): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0124 | 1 | 320 | 0.0031 | -31 | c.*15 others(42): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 1079 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105184 | GTCCCATA others(24): Show |
G | intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0212 | 1 | 320 | 0.0031 | -31 | c.120 others(46): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 3/16 | chr19 | TogoVar | |||||||
PLA2G7_chr6_46699201_46740375 | 46734418 | GAGAGAGA others(24): Show |
G | intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 390 | 0.0026 | -31 | c.-35 others(46): Show |
PLA2G7 | ENSG00000146070.17 | transcript | ENST00000274793.12 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PLBD1_chr12_14498661_14572883 | 14556378 | TTTTTTTT others(24): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0277 a0001c0002t0001g0278 |
2 | 358 | 0.0056 | -31 | c.116 others(48): Show |
PLBD1 | ENSG00000121316.11 | transcript | ENST00000240617.10 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
PLBD2_chr12_113353587_113396629 | 113390219 | TATCCATT others(24): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0107 | 1 | 276 | 0.0036 | -31 | c.*15 others(42): Show |
PLBD2 | ENSG00000151176.8 | transcript | ENST00000280800.5 | protein_coding | 12/12 | 1594 | chr12 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8821493 | AAAAATAT others(24): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02970.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0004a0001c0001t0016a0001c0002t0007others(3): Show | a0001c0001t0004g0104 a0001c0001t0016g0064 a0001c0002t0007g0027 others(3): Show |
6 | 89 | 0.0674 | -31 | c.342 others(52): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCL1_chr2_197799593_198154863 | 197897174 | CTTCTTCT others(24): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0142 | 1 | 204 | 0.0049 | -31 | c.240 others(50): Show |
PLCL1 | ENSG00000115896.17 | transcript | ENST00000428675.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764880 | AAAGAAAG others(24): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02735.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0100 a0002c0003t0003g0173 |
2 | 271 | 0.0074 | -31 | c.-31 others(50): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764883 | GAAAGAAA others(24): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0170 | 1 | 290 | 0.0034 | -31 | c.-31 others(50): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLEKHA8_chr7_30023412_30089650 | 30056329 | TATAAATA others(24): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02615.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0202 a0001c0002t0002g0204 |
2 | 229 | 0.0087 | -31 | c.103 others(49): Show |
PLEKHA8 | ENSG00000106086.21 | transcript | ENST00000449726.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150810496 | GAGGGAAA others(24): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG02165.hp1 NA18977.hp1 others(1): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0011others(1): Show | a0001c0002t0001a0001c0004t0008a0003c0011t0001others(1): Show | a0001c0002t0001g0269 a0001c0004t0008g0184 a0003c0011t0001g0024 others(1): Show |
4 | 226 | 0.0177 | -31 | c.127 others(48): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 135675 | AAAAAAAA others(24): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0002a0001c0011a0001c0037 | a0001c0002t0003a0001c0011t0006a0001c0011t0083others(1): Show | a0001c0002t0003g0133 a0001c0011t0006g0135 a0001c0011t0083g0082 others(1): Show |
4 | 208 | 0.0192 | -31 | c.244 others(48): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 135677 | AAAAAAAT others(24): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp1 HG03453.hp1 others(2): Show |
a0001a0034 | a0001c0016a0001c0035a0001c0049others(1): Show | a0001c0016t0003a0001c0035t0003a0001c0049t0073others(1): Show | a0001c0016t0003g0151 a0001c0016t0003g0159 a0001c0035t0003g0136 others(2): Show |
5 | 206 | 0.0243 | -31 | c.244 others(48): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 191264 | TCGGCTGG others(24): Show |
T | downstream_gene_variant | MODIFIER | HG01123.hp1 HG02080.hp1 HG02735.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0100 | a0001c0002t0002g0033 a0001c0002t0002g0113 a0002c0003t0100g0029 |
3 | 194 | 0.0155 | -31 | c.*89 others(42): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1299 | chr5 | TogoVar | |||||||
PLEKHG5_chr1_6462122_6496667 | 6487504 | GTCCGCAC others(24): Show |
G | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 286 | 0.0035 | -31 | c.-88 others(48): Show |
PLEKHG5 | ENSG00000171680.23 | transcript | ENST00000377728.8 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 976992 | ACTCCCCC others(24): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp2 HG03139.hp2 |
a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0042 | 2 | 385 | 0.0052 | -31 | c.*24 others(42): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1128 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 977254 | GCCAACCC others(24): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02622.hp1 HG03516.hp1 |
a0001a0002 | a0001c0010a0002c0044 | a0001c0010t0007a0002c0044t0003 | a0001c0010t0007g0068 a0001c0010t0007g0074 a0002c0044t0003g0092 |
3 | 238 | 0.0126 | -31 | c.*26 others(42): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1390 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 977974 | GGAACCGC others(24): Show |
G | downstream_gene_variant | MODIFIER | NA18949.hp1 | a0002 | a0002c0008 | a0002c0008t0026 | a0002c0008t0026g0005 | 1 | 420 | 0.0024 | -31 | c.*34 others(42): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 2110 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 978210 | TGCCTGCC others(24): Show |
T | downstream_gene_variant | MODIFIER | NA18998.hp1 NA19080.hp2 |
a0004 | a0004c0029 | a0004c0029t0011 | a0004c0029t0011g0038 | 2 | 420 | 0.0048 | -31 | c.*36 others(42): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 2346 | chr1 | TogoVar | |||||||
PLPPR1_chr9_101023727_101330135 | 101078159 | AAGAAGAA others(24): Show |
A | intron_variant | MODIFIER | HG02129.hp2 HG02735.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0009g0078 |
3 | 199 | 0.0151 | -31 | c.-46 others(50): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | chr9 | TogoVar | |||||||
PLS1_chr3_142591393_142718664 | 142628335 | GTGTGTGC others(24): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(187): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(184): Show |
190 | 273 | 0.6960 | -31 | c.-37 others(50): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLXDC1_chr17_39058313_39156637 | 39155210 | CGCTCCTC others(24): Show |
C | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0289 | 1 | 318 | 0.0031 | -31 | c.-38 others(42): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 3574 | chr17 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132564899 | TCCTGCCA others(24): Show |
T | intron_variant | MODIFIER | HG00738.hp1 NA20300.hp2 |
a0001 | a0001c0008a0001c0017 | a0001c0008t0019a0001c0017t0003 | a0001c0008t0019g0054 a0001c0017t0003g0088 |
2 | 86 | 0.0233 | -31 | c.-87 others(50): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50274798 | CACCCCTC others(24): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 | a0009 | a0009c0020 | a0009c0020t0002 | a0009c0020t0002g0047 | 1 | 300 | 0.0033 | -31 | c.*87 others(40): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 180 | chr22 | TogoVar | |||||||
PMS1_chr2_189779450_189882629 | 189864684 | AAAAATAT others(24): Show |
A | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 223 | 0.0045 | -31 | c.234 others(48): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNMA6E_chrX_153390639_153406350 | 153391483 | CCACACAC others(24): Show |
C | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 344 | 0.0029 | -31 | c.*53 others(42): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4155 | chrX | TogoVar | |||||||
PNPLA5_chr22_43874678_43897013 | 43895179 | GACAGAGT others(24): Show |
G | upstream_gene_variant | MODIFIER | HG02647.hp2 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0125 | 1 | 436 | 0.0023 | -31 | c.-33 others(42): Show |
PNPLA5 | ENSG00000100341.13 | transcript | ENST00000216177.9 | protein_coding | 3167 | chr22 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137511868 | CCTCCCTC others(24): Show |
C | intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0030 | 1 | 186 | 0.0054 | -31 | c.122 others(50): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 12/34 | chr9 | TogoVar | |||||||
PNRC2_chr1_23954828_23968462 | 23964232 | GAATACAC others(24): Show |
G | downstream_gene_variant | MODIFIER | NA18612.hp2 NA18956.hp2 NA18961.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 410 | 0.0146 | -31 | c.*23 others(42): Show |
PNRC2 | ENSG00000189266.13 | transcript | ENST00000334351.8 | protein_coding | 771 | chr1 | TogoVar | |||||||
POGLUT1_chr3_119463963_119499708 | 119498455 | CCCAACCC others(24): Show |
C | downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0082 | 1 | 420 | 0.0024 | -31 | c.*60 others(42): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 3748 | chr3 | TogoVar |