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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PITRM1_chr10_3132728_3177782 | 3174583 | C | CTTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(1): Show | a0001c0001t0001g0113a0001c0002t0001g0004a0001c0002t0001g0033others(2): Show | 5 | 446 | 0.0112 | 31 | c.-18 others(42): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24757079 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352 | 1 | 386 | 0.0026 | 31 | c.356 others(46): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03927.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0313a0002c0002t0001g0324 | 2 | 346 | 0.0058 | 31 | c.128 others(50): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
PJVK_chr2_178446378_178467102 | 178462077 | T | TAAGTCAG others(24): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0011 | 1 | 408 | 0.0025 | 31 | c.*80 others(40): Show |
PJVK | ENSG00000204311.15 | transcript | ENST00000644580.2 | protein_coding | 7/7 | 804 | chr2 | TogoVar | |||||
PKD2_chr4_88002635_88082777 | 88063805 | C | CTTCACAT others(24): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 342 | 0.0029 | 31 | c.211 others(50): Show |
PKD2 | ENSG00000118762.8 | transcript | ENST00000237596.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PKHD1L1_chr8_109357461_109542207 | 109410726 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0259 | 1 | 282 | 0.0036 | 31 | c.208 others(48): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKHD1_chr6_51610299_52092613 | 51950220 | A | AAAAAAAT others(24): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0028 | a0028c0071 | a0028c0071t0012 | a0028c0071t0012g0093 | 1 | 134 | 0.0075 | 31 | c.590 others(50): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 36/66 | chr6 | TogoVar | ||||||
PKIA_chr8_78511340_78610267 | 78593777 | C | CGATTATG others(24): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01169.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0132others(6): Show | 10 | 186 | 0.0538 | 31 | c.-27 others(48): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKN3_chr9_128697503_128725916 | 128706391 | A | ACAGCCCT others(24): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 360 | 0.0028 | 31 | c.412 others(46): Show |
PKN3 | ENSG00000160447.7 | transcript | ENST00000291906.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42987404 | A | AAAAAAAT others(24): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0008 | 1 | 362 | 0.0028 | 31 | c.-57 others(50): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKP2_chr12_32785755_32901777 | 32846745 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01993.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0120a0002c0002t0006g0194 | 2 | 342 | 0.0059 | 31 | c.137 others(50): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 5/12 | chr12 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32858095 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 342 | 0.0029 | 31 | c.117 others(50): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401194 | A | ACCCGCCC others(24): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0137 | 1 | 216 | 0.0046 | 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 | 401222 | A | ACCCCCGG others(24): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 216 | 0.0046 | 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 | 402213 | A | ACACCCGA others(24): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0094 | 1 | 216 | 0.0046 | 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 | 402319 | C | CGGCCCCG others(24): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 216 | 0.0046 | 31 | c.173 others(48): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLA2G4C_chr19_48042846_48115817 | 48105820 | C | CCCCTCCC others(24): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19043.hp1 |
a0005 | a0005c0012a0005c0041 | a0005c0012t0012a0005c0041t0012 | a0005c0012t0012g0317a0005c0041t0012g0316 | 2 | 322 | 0.0062 | 31 | c.9-3 others(42): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48105937 | C | CCTTTCTT others(24): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0012 | 1 | 322 | 0.0031 | 31 | c.9-4 others(42): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48105946 | C | CTTTCTTT others(24): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0106 | 1 | 322 | 0.0031 | 31 | c.9-5 others(42): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | ||||||
PLAAT5_chr11_63456404_63496167 | 63483784 | A | AAATATAT others(24): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0095 | 1 | 358 | 0.0028 | 31 | c.345 others(48): Show |
PLAAT5 | ENSG00000168004.10 | transcript | ENST00000540857.6 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
PLAAT5_chr11_63456404_63496167 | 63493778 | T | TCTCAACA others(24): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0241 | 1 | 358 | 0.0028 | 31 | c.-27 others(42): Show |
PLAAT5 | ENSG00000168004.10 | transcript | ENST00000540857.6 | protein_coding | 2612 | chr11 | TogoVar | ||||||
PLAGL1_chr6_143935300_144013259 | 143943031 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 394 | 0.0025 | 31 | c.153 others(46): Show |
PLAGL1 | ENSG00000118495.21 | transcript | ENST00000674357.1 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
PLAUR_chr19_43643579_43675169 | 43672720 | T | TGCATCAG others(24): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(314): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(289): Show | 317 | 442 | 0.7172 | 31 | c.-26 others(42): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 2552 | chr19 | TogoVar | ||||||
PLB1_chr2_28491060_28649142 | 28635575 | A | ACATAGTG others(24): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01081.hp2 others(11): Show |
a0001a0003a0004others(3): Show | a0001c0002a0003c0003a0004c0007others(5): Show | a0001c0002t0001a0003c0003t0001a0004c0007t0001others(5): Show | a0001c0002t0001g0044a0003c0003t0001g0013a0003c0003t0001g0110others(11): Show | 14 | 266 | 0.0526 | 31 | c.409 others(50): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 56/57 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLD1_chr3_171595404_171815483 | 171639541 | A | ATAATATA others(24): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02258.hp2 HG03209.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0187a0002c0003t0003g0288a0002c0003t0003g0289 | 3 | 294 | 0.0102 | 31 | c.259 others(50): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 23/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171639656 | A | ATATTCAT others(24): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0187 | 1 | 294 | 0.0034 | 31 | c.259 others(50): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 23/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764878 | A | AGAAAGAG others(24): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0219 | 1 | 294 | 0.0034 | 31 | c.-31 others(50): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19253064 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03471.hp2 HG04228.hp1 |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0004a0001c0001t0005a0005c0012t0005 | a0001c0001t0004g0171a0001c0001t0005g0067a0005c0012t0005g0068 | 3 | 316 | 0.0095 | 31 | c.228 others(46): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0188 | 1 | 316 | 0.0032 | 31 | c.244 others(50): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 316 | 0.0032 | 31 | c.244 others(50): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 316 | 0.0032 | 31 | c.244 others(50): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA5_chr12_19124733_19381400 | 19334829 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 316 | 0.0032 | 31 | c.244 others(50): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA7_chr11_16772297_17019414 | 16889420 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 244 | 0.0041 | 31 | c.222 others(50): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150628527 | A | ACACACAC others(24): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 272 | 0.0037 | 31 | c.-15 others(52): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 1/16 | chr6 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150804175 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18522.hp2 NA19085.hp2 |
a0001 | a0001c0001a0001c0006a0001c0012 | a0001c0001t0002a0001c0006t0001a0001c0012t0001 | a0001c0001t0002g0085a0001c0006t0001g0247a0001c0012t0001g0073 | 3 | 272 | 0.0110 | 31 | c.781 others(46): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150804175 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 272 | 0.0037 | 31 | c.781 others(46): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150804175 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03831.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0110a0001c0002t0001g0007 | 2 | 272 | 0.0074 | 31 | c.781 others(46): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150804175 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0028 | 1 | 272 | 0.0037 | 31 | c.781 others(46): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG3_chr14_64699424_64755249 | 64751927 | C | CAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0019 | 1 | 248 | 0.0040 | 31 | c.*82 others(42): Show |
PLEKHG3 | ENSG00000126822.18 | transcript | ENST00000247226.13 | protein_coding | 1679 | chr14 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 135682 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0019 | a0019c0019 | a0019c0019t0062 | a0019c0019t0062g0191 | 1 | 210 | 0.0048 | 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 | T | TCGGCTGG others(24): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG00735.hp2 others(10): Show |
a0002a0004 | a0002c0003a0002c0005a0002c0039others(2): Show | a0002c0003t0002a0002c0003t0011a0002c0003t0071others(8): Show | a0002c0003t0002g0098a0002c0003t0002g0101a0002c0003t0002g0132others(10): Show | 13 | 210 | 0.0619 | 31 | c.*89 others(42): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1299 | chr5 | TogoVar | ||||||
PLEKHG7_chr12_92697989_92777455 | 92737749 | G | GAGGAAGG others(24): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 252 | 0.0040 | 31 | c.939 others(46): Show |
PLEKHG7 | ENSG00000187510.11 | transcript | ENST00000344636.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHH2_chr2_43632260_43772987 | 43636568 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG02698.hp1 HG02895.hp2 others(1): Show |
a0001a0009 | a0001c0002a0001c0007a0009c0021 | a0001c0002t0002a0001c0002t0009a0001c0007t0001others(1): Show | a0001c0002t0002g0233a0001c0002t0009g0238a0001c0007t0001g0191others(1): Show | 4 | 256 | 0.0156 | 31 | c.-81 others(40): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 691 | chr2 | TogoVar | ||||||
PLEKHH2_chr2_43632260_43772987 | 43636568 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 NA18747.hp2 NA18999.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0012 | a0001c0001t0002g0210a0001c0002t0012g0226a0001c0002t0012g0232 | 3 | 256 | 0.0117 | 31 | c.-81 others(40): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 691 | chr2 | TogoVar | ||||||
PLEKHM3_chr2_207816288_208030527 | 207865801 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006 | 1 | 200 | 0.0050 | 31 | c.195 others(50): Show |
PLEKHM3 | ENSG00000178385.15 | transcript | ENST00000427836.8 | protein_coding | 6/7 | chr2 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 976715 | C | CCAACCCC others(24): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01070.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0042a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0053a0001c0001t0001g0054others(7): Show | 12 | 422 | 0.0284 | 31 | c.*21 others(42): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 851 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 976906 | G | GCAACCCC others(24): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0009 | 1 | 422 | 0.0024 | 31 | c.*23 others(42): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1042 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 976938 | G | GCAACCCC others(24): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0045 | 1 | 422 | 0.0024 | 31 | c.*23 others(42): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1074 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 976992 | A | ACTCCCCC others(24): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0034 | 1 | 422 | 0.0024 | 31 | c.*24 others(42): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1128 | chr1 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977080 | G | GCCTCCCA others(24): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01099.hp2 HG01257.hp2 others(22): Show |
a0002a0003a0019 | a0002c0002a0002c0006a0002c0017others(2): Show | a0002c0002t0002a0002c0002t0022a0002c0006t0002others(3): Show | a0002c0002t0002g0003a0002c0002t0002g0047a0002c0002t0002g0049others(12): Show | 25 | 422 | 0.0592 | 31 | c.*25 others(42): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1216 | chr1 | TogoVar |