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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLEKHN1_chr1_961482_980865 | 977222 | CACCAACC others(54): Show |
C | downstream_gene_variant | MODIFIER | HG03579.hp1 NA18946.hp1 NA18957.hp1 others(1): Show |
a0001a0002a0005others(1): Show | a0001c0022a0002c0042a0005c0025others(1): Show | a0001c0022t0017a0002c0042t0004a0005c0025t0036others(1): Show | a0001c0022t0017g0001 a0002c0042t0004g0003 a0005c0025t0036g0073 others(1): Show |
4 | 422 | 0.0095 | -61 | c.*26 others(72): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1358 | chr1 | TogoVar | |||||||
PLPP1_chr5_55419854_55539964 | 55512479 | AAAAAGAA others(54): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02976.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 |
3 | 294 | 0.0102 | -61 | c.58+ others(78): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 1/5 | chr5 | TogoVar | |||||||
POLE_chr12_132618762_132692342 | 132620863 | AGCCTGGG others(54): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(274): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0005others(38): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(44): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(259): Show |
277 | 292 | 0.9486 | -61 | c.*37 others(72): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 2898 | chr12 | TogoVar | |||||||
POLR2L_chr11_834721_847529 | 845328 | TGTCCTCT others(54): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 436 | 0.0023 | -61 | c.-28 others(72): Show |
POLR2L | ENSG00000177700.6 | transcript | ENST00000322028.5 | protein_coding | 2800 | chr11 | TogoVar | |||||||
POLR3A_chr10_77970149_78034515 | 78026301 | CACCATAA others(54): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 374 | 0.0027 | -61 | c.45- others(73): Show |
POLR3A | ENSG00000148606.15 | transcript | ENST00000372371.8 | protein_coding | 1/30 | chr10 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 620931 | CCAGGGGA others(54): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02056.hp2 NA18965.hp1 others(2): Show |
a0003a0018a0036 | a0003c0002a0018c0032a0036c0072 | a0003c0002t0002a0003c0002t0004a0018c0032t0004others(1): Show | a0003c0002t0002g0257 a0003c0002t0004g0127 a0003c0002t0004g0144 others(2): Show |
5 | 422 | 0.0119 | -61 | c.264 others(77): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 10/20 | chr19 | TogoVar | |||||||
PPARGC1B_chr5_149725310_149860022 | 149809175 | CATAGATA others(54): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0066 | a0002c0002t0066g0079 | 1 | 320 | 0.0031 | -61 | c.79- others(78): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149809232 | CATAGATA others(54): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0021a0001c0010t0038others(2): Show | a0001c0001t0002g0163 a0001c0001t0021g0140 a0001c0010t0038g0185 others(2): Show |
5 | 320 | 0.0156 | -61 | c.79- others(78): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPIAL4C_chr1_149578848_149589607 | 149583467 | GAAGAAAG others(54): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG02109.hp1 others(3): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0002a0004c0004t0003a0005c0005t0003 | a0003c0003t0002g0000 a0004c0004t0003g0000 a0005c0005t0003g0000 |
6 | 448 | 0.0134 | -61 | c.-43 others(70): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 380 | chr1 | TogoVar | |||||||
PPP1R14A_chr19_38246237_38261374 | 38252302 | TCACCTCG others(54): Show |
T | exon_loss_variant others(4): Show |
HIGH | NA18949.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0073 | 1 | 426 | 0.0024 | -61 | c.283 others(73): Show |
PPP1R14A | ENSG00000167641.11 | transcript | ENST00000301242.9 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
PPP1R16B_chr20_38800697_38928024 | 38896065 | TTCTTCCC others(54): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0184 a0001c0001t0006g0194 |
2 | 244 | 0.0082 | -61 | c.467 others(76): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | chr20 | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 376612 | GCCATGGG others(54): Show |
G | intron_variant | MODIFIER | HG02165.hp1 HG03704.hp1 HG03834.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0007a0001c0007t0008 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(4): Show |
7 | 25 | 0.2800 | -61 | c.324 others(78): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 377807 | ATGGGGCT others(54): Show |
A | intron_variant | MODIFIER | HG03704.hp2 NA18994.hp1 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0011 | a0001c0001t0001g0004 a0006c0010t0011g0002 |
2 | 25 | 0.0800 | -61 | c.324 others(78): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
PPP2R5C_chr14_101756709_101932977 | 101782360 | TCTTTCTC others(54): Show |
T | intron_variant | MODIFIER | HG02451.hp2 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0009 a0002c0002t0008g0010 |
2 | 138 | 0.0145 | -61 | c.94- others(76): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PPP2R5E_chr14_63366364_63548377 | 63399350 | AGGTCTGG others(54): Show |
A | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0153 | 1 | 252 | 0.0040 | -61 | c.550 others(78): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 5/13 | chr14 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50343870 | CCCCCCAG others(54): Show |
C | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0229 a0002c0004t0012g0230 |
2 | 340 | 0.0059 | -61 | c.-14 others(78): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50344775 | TTTCCCCC others(54): Show |
T | intron_variant | MODIFIER | HG02970.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0048 a0001c0001t0014g0049 |
2 | 340 | 0.0059 | -61 | c.-14 others(80): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50344930 | TTCCCCCC others(54): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00735.hp2 others(38): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0002c0004others(4): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0022others(7): Show | a0001c0002t0001g0022 a0001c0002t0001g0039 a0001c0002t0001g0040 others(38): Show |
41 | 340 | 0.1206 | -61 | c.-14 others(80): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41856108 | TCCTTCCT others(54): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01123.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0003t0001a0001c0005t0006others(1): Show | a0001c0002t0002g0217 a0001c0002t0002g0326 a0001c0003t0001g0060 others(2): Show |
5 | 406 | 0.0123 | -61 | c.285 others(78): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 4/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3299320 | CGTGGTGA others(54): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG04204.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0083a0001c0002t0001 | a0001c0001t0083g0027 a0001c0002t0001g0095 |
2 | 210 | 0.0095 | -61 | c.438 others(80): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3299533 | ATGCTGTG others(54): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(32): Show | a0001c0001t0001g0150 a0001c0001t0001g0183 a0001c0001t0001g0201 others(37): Show |
40 | 210 | 0.1905 | -61 | c.438 others(80): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3299543 | CGTGATGT others(54): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0033 | 1 | 210 | 0.0048 | -61 | c.438 others(80): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3299787 | TGTGATGT others(54): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0027 | 1 | 210 | 0.0048 | -61 | c.438 others(80): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3300347 | CGATCCCA others(54): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(31): Show | a0001c0001t0001g0150 a0001c0001t0001g0183 a0001c0001t0001g0201 others(36): Show |
39 | 210 | 0.1857 | -61 | c.438 others(80): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRIMPOL_chr4_184644738_184699952 | 184676448 | CCCTTCCC others(54): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0040 | 1 | 328 | 0.0031 | -61 | c.845 others(78): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744474 | TTTCTTTC others(54): Show |
T | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0114 a0001c0001t0004g0115 |
2 | 168 | 0.0119 | -61 | c.348 others(80): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54132752 | TCATGGCA others(54): Show |
T | downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 227 | 0.0044 | -61 | c.*13 others(72): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 1040 | chr19 | TogoVar | |||||||
PRPF6_chr20_63976132_64038100 | 64021957 | GTGCACGT others(54): Show |
G | intron_variant | MODIFIER | HG02976.hp1 HG03453.hp1 NA19240.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 others(1): Show |
4 | 294 | 0.0136 | -61 | c.164 others(78): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PRR36_chr19_7863719_7879390 | 7878138 | ATACATAT others(54): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp2 | a0005 | a0005c0038 | a0005c0038t0003 | a0005c0038t0003g0064 | 1 | 386 | 0.0026 | -61 | c.-39 others(72): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 3749 | chr19 | TogoVar | |||||||
PSCA_chr8_142675495_142687725 | 142678700 | CACCACCA others(54): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(167): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0007a0002c0003t0002 | a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 others(6): Show |
170 | 432 | 0.3935 | -61 | c.-18 others(72): Show |
PSCA | ENSG00000167653.5 | transcript | ENST00000301258.5 | protein_coding | 1794 | chr8 | TogoVar | |||||||
PTGES3L_chr17_42963103_42985080 | 42967378 | TATATAAT others(54): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(104): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show |
107 | 336 | 0.3185 | -61 | c.*17 others(72): Show |
PTGES3L | ENSG00000267060.7 | transcript | ENST00000591916.7 | protein_coding | 724 | chr17 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972260 | AAAGAAAA others(54): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01081.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0015others(1): Show | a0001c0002t0001g0029 a0001c0002t0001g0085 a0001c0002t0001g0109 others(12): Show |
15 | 334 | 0.0449 | -61 | c.150 others(80): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44668366 | GTTTATAT others(54): Show |
G | downstream_gene_variant | MODIFIER | NA18962.hp2 NA18966.hp1 NA18966.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0207 others(1): Show |
4 | 412 | 0.0097 | -61 | c.*65 others(72): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 2205 | chr19 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703735 | GGGGGGGG others(54): Show |
G | intron_variant | MODIFIER | HG03453.hp2 NA20129.hp1 |
a0001 | a0001c0006a0001c0023 | a0001c0006t0004a0001c0023t0004 | a0001c0006t0004g0232 a0001c0023t0004g0231 |
2 | 322 | 0.0062 | -61 | c.201 others(80): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82685222 | GGGGGAGG others(54): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0256 | 1 | 338 | 0.0030 | -61 | c.142 others(80): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB6B_chr3_133819235_133900882 | 133885018 | AACCAGAG others(54): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0027 | 1 | 386 | 0.0026 | -61 | c.70+ others(78): Show |
RAB6B | ENSG00000154917.11 | transcript | ENST00000285208.9 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
RANBP9_chr6_13616498_13716835 | 13623489 | AAAACAGG others(54): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 360 | 0.0028 | -61 | c.206 others(79): Show |
RANBP9 | ENSG00000010017.13 | transcript | ENST00000011619.6 | protein_coding | 13/13 | chr6 | TogoVar | |||||||
RASA2_chr3_141482027_141620344 | 141610406 | ATATATTT others(54): Show |
A | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0197 | 1 | 280 | 0.0036 | -61 | c.251 others(78): Show |
RASA2 | ENSG00000155903.14 | transcript | ENST00000286364.9 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114008203 | TGCCCCCA others(54): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02258.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0004a0002c0004t0009 | a0001c0001t0001g0051 a0002c0004t0004g0001 a0002c0004t0004g0029 others(1): Show |
4 | 67 | 0.0597 | -61 | c.166 others(78): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 17/23 | chr13 | TogoVar | |||||||
RBFA_chr18_80029434_80055651 | 80048762 | GGCTCAGT others(54): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG01106.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0022 a0001c0002t0009g0039 a0001c0002t0009g0054 others(1): Show |
8 | 414 | 0.0193 | -61 | c.*26 others(72): Show |
RBFA | ENSG00000101546.13 | transcript | ENST00000306735.10 | protein_coding | 7/7 | 2628 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RBFA_chr18_80029434_80055651 | 80048796 | CGTTTGCA others(54): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0001 | a0002c0001t0050 | a0002c0001t0050g0002 | 1 | 414 | 0.0024 | -61 | c.*26 others(72): Show |
RBFA | ENSG00000101546.13 | transcript | ENST00000306735.10 | protein_coding | 7/7 | 2668 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RBFA_chr18_80029434_80055651 | 80048823 | AGCTCAGT others(54): Show |
A | 3_prime_UTR_variant | MODIFIER | HG04184.hp2 NA19043.hp2 |
a0002 | a0002c0001 | a0002c0001t0047a0002c0001t0054 | a0002c0001t0047g0083 a0002c0001t0054g0076 |
2 | 414 | 0.0048 | -61 | c.*27 others(72): Show |
RBFA | ENSG00000101546.13 | transcript | ENST00000306735.10 | protein_coding | 7/7 | 2702 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RBFA_chr18_80029434_80055651 | 80048884 | GGCTCAGT others(54): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02809.hp2 HG03453.hp2 |
a0002 | a0002c0001 | a0002c0001t0025 | a0002c0001t0025g0038 a0002c0001t0025g0075 |
2 | 414 | 0.0048 | -61 | c.*27 others(72): Show |
RBFA | ENSG00000101546.13 | transcript | ENST00000306735.10 | protein_coding | 7/7 | 2769 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RBFA_chr18_80029434_80055651 | 80048942 | GTCTGCTC others(54): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03654.hp2 HG04228.hp1 |
a0001 | a0001c0002 | a0001c0002t0041a0001c0002t0042 | a0001c0002t0041g0004 a0001c0002t0042g0001 |
2 | 414 | 0.0048 | -61 | c.*27 others(72): Show |
RBFA | ENSG00000101546.13 | transcript | ENST00000306735.10 | protein_coding | 7/7 | 2790 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
REV3L_chr6_111294033_111488218 | 111303671 | CTTTTTTT others(54): Show |
C | intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0224 | 1 | 288 | 0.0035 | -61 | c.925 others(80): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 31/31 | chr6 | TogoVar | |||||||
REV3L_chr6_111294033_111488218 | 111318259 | TTGTATTT others(54): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02622.hp2 |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0153 a0002c0009t0001g0108 |
2 | 288 | 0.0069 | -61 | c.835 others(80): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 26/31 | chr6 | TogoVar | |||||||
REXO1_chr19_1810248_1853483 | 1843234 | GCAGCTGG others(54): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0136 | 1 | 380 | 0.0026 | -61 | c.157 others(78): Show |
REXO1 | ENSG00000079313.15 | transcript | ENST00000170168.9 | protein_coding | 1/15 | chr19 | TogoVar | |||||||
RHOT2_chr16_663132_679171 | 674808 | ATGGTATT others(54): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0011 | 1 | 380 | 0.0026 | -61 | c.*12 others(72): Show |
RHOT2 | ENSG00000140983.15 | transcript | ENST00000315082.9 | protein_coding | 638 | chr16 | TogoVar | |||||||
RIOK2_chr5_97155867_97188247 | 97178527 | CTGCTCTT others(54): Show |
C | intron_variant | MODIFIER | NA19054.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 2 | 410 | 0.0049 | -61 | c.205 others(76): Show |
RIOK2 | ENSG00000058729.11 | transcript | ENST00000283109.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
RNF4_chr4_2464106_2520857 | 2511216 | TAAGGTCC others(54): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(153): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(151): Show |
156 | 378 | 0.4127 | -61 | c.205 others(76): Show |
RNF4 | ENSG00000063978.17 | transcript | ENST00000314289.13 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |