| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PI4KA_chr22_20702691_20863811 | 20789921 | AAGTGACT others(48): Show |
A | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 334 | 0.0030 | -55 | c.232 others(74): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 19/54 | chr22 | TogoVar | ||||||
| PIEZO2_chr18_10665247_11154569 | 11014274 | TCTCATTC others(48): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02572.hp2 others(5): Show |
a0001a0002a0006others(1): Show | a0001c0017a0001c0065a0002c0001others(3): Show | a0001c0017t0004a0001c0065t0002a0002c0001t0001others(4): Show | a0001c0017t0004g0142a0001c0017t0004g0143a0001c0065t0002g0003others(5): Show | 8 | 158 | 0.0506 | -55 | c.161 others(74): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 2/55 | chr18 | TogoVar | ||||||
| PIGQ_chr16_564968_589109 | 572614 | ATCCCTAA others(48): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0215 | 1 | 408 | 0.0025 | -55 | c.-9- others(70): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PIGQ_chr16_564968_589109 | 572680 | CGTGGTGG others(48): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0146 | 1 | 408 | 0.0025 | -55 | c.-9- others(70): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PIGU_chr20_34555542_34682092 | 34631749 | ATATATAT others(48): Show |
A | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 320 | 0.0031 | -55 | c.529 others(72): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
| PIWIL2_chr8_22270316_22362568 | 22280771 | AGTTCTGT others(48): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01167.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0005a0003c0002t0001a0003c0002t0012others(1): Show | a0001c0001t0005g0006a0001c0001t0005g0007a0001c0001t0005g0008others(12): Show | 15 | 296 | 0.0507 | -55 | c.199 others(70): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PKD2L1_chr10_100283149_100335228 | 100314989 | AGGAAGGA others(48): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0013 | a0013c0032 | a0013c0032t0001 | a0013c0032t0001g0303 | 1 | 306 | 0.0033 | -55 | c.349 others(74): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| PKP2_chr12_32785755_32901777 | 32858098 | TATATATA others(48): Show |
T | intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0120 | 1 | 342 | 0.0029 | -55 | c.117 others(74): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 402042 | ACCCCCGG others(48): Show |
A | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0104 | 1 | 216 | 0.0046 | -55 | c.173 others(73): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 402365 | CGGCTCCA others(48): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 |
a0001 | a0001c0011a0001c0021 | a0001c0011t0001a0001c0021t0001 | a0001c0011t0001g0051a0001c0021t0001g0086 | 2 | 216 | 0.0093 | -55 | c.173 others(72): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PLCE1_chr10_93988931_94337823 | 94141548 | TAAGGGAA others(48): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02257.hp2 others(5): Show |
a0001a0003a0007others(3): Show | a0001c0001a0003c0006a0007c0017others(4): Show | a0001c0001t0052a0003c0006t0007a0007c0017t0037others(5): Show | a0001c0001t0052g0078a0003c0006t0007g0067a0007c0017t0037g0027others(5): Show | 8 | 118 | 0.0678 | -55 | c.149 others(74): Show |
PLCE1 | ENSG00000138193.17 | transcript | ENST00000371380.8 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PLCL1_chr2_197799593_198154863 | 197866053 | ACACACAC others(48): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0133 | 1 | 204 | 0.0049 | -55 | c.240 others(74): Show |
PLCL1 | ENSG00000115896.17 | transcript | ENST00000428675.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
| PLCL1_chr2_197799593_198154863 | 197866070 | ATATATAT others(48): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0010 | a0001c0010t0029 | a0001c0010t0029g0140 | 1 | 204 | 0.0049 | -55 | c.240 others(74): Show |
PLCL1 | ENSG00000115896.17 | transcript | ENST00000428675.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PLCXD3_chr5_41301952_41515601 | 41471848 | CTCCCCTC others(48): Show |
C | intron_variant | MODIFIER | HG02647.hp1 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0023 | a0001c0002t0013g0002a0001c0002t0023g0003 | 2 | 244 | 0.0082 | -55 | c.103 others(74): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 969958 | GCAGGTTC others(48): Show |
G | intron_variant | MODIFIER | HG02132.hp2 NA18940.hp2 NA18962.hp1 others(2): Show |
a0004 | a0004c0004a0004c0056a0004c0057 | a0004c0004t0003a0004c0056t0003a0004c0057t0003 | a0004c0004t0003g0016a0004c0004t0003g0126a0004c0056t0003g0016others(1): Show | 5 | 422 | 0.0119 | -55 | c.184 others(70): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PLEKHN1_chr1_961482_980865 | 977838 | AATCCCCC others(48): Show |
A | downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0013 | 1 | 422 | 0.0024 | -55 | c.*32 others(66): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1974 | chr1 | TogoVar | ||||||
| PLGLB2_chr2_87743087_87764476 | 87756335 | AAGAAATA others(48): Show |
A | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0042 | 1 | 313 | 0.0032 | -55 | c.*2- others(68): Show |
PLGLB2 | ENSG00000125551.19 | transcript | ENST00000359481.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PLK3_chr1_44795377_44810990 | 44796061 | TATAAATA others(48): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 384 | 0.0026 | -55 | c.-44 others(66): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4315 | chr1 | TogoVar | ||||||
| PLXNA4_chr7_132118340_132581470 | 132132433 | TTCTGTTC others(48): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0008 | 1 | 88 | 0.0114 | -55 | c.558 others(72): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 31/31 | chr7 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137551676 | CGAGCCCC others(48): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp2 NA18522.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0019 | a0001c0001t0001a0007c0019t0001 | a0001c0001t0001g0129a0001c0001t0001g0130a0007c0019t0001g0127others(1): Show | 4 | 188 | 0.0213 | -55 | c.-15 others(66): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 1275 | chr9 | TogoVar | ||||||
| POLE_chr12_132618762_132692342 | 132644976 | AGGGGCAC others(48): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0039 | a0001c0039t0010 | a0001c0039t0010g0013 | 1 | 292 | 0.0034 | -55 | c.415 others(74): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 32/48 | chr12 | TogoVar | ||||||
| POMT1_chr9_131497918_131528799 | 131515733 | AACAGGAC others(48): Show |
A | intron_variant | MODIFIER | NA18747.hp2 NA18960.hp2 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0092a0001c0001t0001g0109 | 3 | 334 | 0.0090 | -55 | c.127 others(72): Show |
POMT1 | ENSG00000130714.19 | transcript | ENST00000402686.8 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| POR_chr7_75910155_75991855 | 75988922 | CGGGTGGG others(48): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0240 | 1 | 278 | 0.0036 | -55 | c.*24 others(66): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2068 | chr7 | TogoVar | ||||||
| PPBP_chr4_73981439_73993190 | 73982181 | AAAAAAAA others(48): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0007 | 2 | 368 | 0.0054 | -55 | c.*50 others(66): Show |
PPBP | ENSG00000163736.4 | transcript | ENST00000296028.4 | protein_coding | 4257 | chr4 | TogoVar | ||||||
| PPP1R21_chr2_48435766_48520386 | 48469416 | CATATATA others(48): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03453.hp2 |
a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0152a0001c0003t0034g0153 | 2 | 372 | 0.0054 | -55 | c.898 others(72): Show |
PPP1R21 | ENSG00000162869.16 | transcript | ENST00000294952.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PPP1R21_chr2_48435766_48520386 | 48469433 | TATATATA others(48): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG01255.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0312a0001c0004t0009g0313a0001c0004t0009g0314others(3): Show | 6 | 372 | 0.0161 | -55 | c.898 others(72): Show |
PPP1R21 | ENSG00000162869.16 | transcript | ENST00000294952.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PPP3CA_chr4_101018418_101352526 | 101106441 | GAAAGAAA others(48): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0085 | 1 | 192 | 0.0052 | -55 | c.384 others(72): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 3/13 | chr4 | TogoVar | ||||||
| PRDM15_chr21_41793225_41884344 | 41806237 | CCACCATC others(48): Show |
C | intron_variant | MODIFIER | HG02083.hp1 NA18747.hp2 NA18944.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0301a0001c0002t0002g0302a0001c0002t0002g0303others(10): Show | 13 | 406 | 0.0320 | -55 | c.265 others(74): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3114400 | GCACACAC others(48): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02559.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0014a0001c0001t0028a0001c0001t0056others(12): Show | a0001c0001t0014g0069a0001c0001t0028g0126a0001c0001t0056g0204others(15): Show | 18 | 210 | 0.0857 | -55 | c.37+ others(72): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKACA_chr19_14086688_14122762 | 14112410 | GCTGCAGC others(48): Show |
G | intron_variant | MODIFIER | HG01934.hp2 HG03516.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0309a0001c0001t0002g0310a0001c0001t0002g0311 | 3 | 358 | 0.0084 | -55 | c.46+ others(70): Show |
PRKACA | ENSG00000072062.16 | transcript | ENST00000308677.9 | protein_coding | 1/9 | chr19 | TogoVar | ||||||
| PRKN_chr6_161342417_162732766 | 162355218 | AAATTATG others(48): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 32 | 0.0313 | -55 | c.171 others(74): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 2/11 | chr6 | TogoVar | ||||||
| PRKX_chrX_3599340_3718649 | 3691430 | CCCGGGGG others(48): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(141): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(107): Show | a0001c0001t0001g0018a0001c0001t0001g0050a0001c0001t0001g0055others(141): Show | 144 | 227 | 0.6344 | -55 | c.167 others(74): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 1/8 | chrX | TogoVar | ||||||
| PRR7_chr5_177441814_177461286 | 177451671 | ACCCTCAG others(48): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02015.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0064 | 5 | 332 | 0.0151 | -55 | c.-32 others(74): Show |
PRR7 | ENSG00000131188.12 | transcript | ENST00000323249.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PSD3_chr8_18522303_19018703 | 18594187 | ATTATATA others(48): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0159 | 1 | 228 | 0.0044 | -55 | c.248 others(74): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | ||||||
| PSD3_chr8_18522303_19018703 | 18752510 | AATATATG others(48): Show |
A | intron_variant | MODIFIER | HG03540.hp1 HG03704.hp1 NA18939.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0015others(1): Show | a0001c0001t0052a0001c0002t0001a0002c0015t0001others(1): Show | a0001c0001t0052g0203a0001c0002t0001g0077a0002c0015t0001g0129others(1): Show | 4 | 228 | 0.0175 | -55 | c.217 others(76): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | ||||||
| PTBP3_chr9_112213435_112338619 | 112277891 | CATAACAT others(48): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0339 | 1 | 342 | 0.0029 | -55 | c.35- others(70): Show |
PTBP3 | ENSG00000119314.16 | transcript | ENST00000374257.6 | protein_coding | 2/13 | chr9 | TogoVar | ||||||
| PTGES3L_chr17_42963103_42985080 | 42967234 | ATATTATA others(48): Show |
A | downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 336 | 0.0030 | -55 | c.*18 others(66): Show |
PTGES3L | ENSG00000267060.7 | transcript | ENST00000591916.7 | protein_coding | 868 | chr17 | TogoVar | ||||||
| PTGS1_chr9_122366024_122400703 | 122391321 | CATATATA others(48): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03209.hp1 |
a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0037 | 2 | 332 | 0.0060 | -55 | c.144 others(72): Show |
PTGS1 | ENSG00000095303.17 | transcript | ENST00000362012.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PTP4A2_chr1_31901421_31943368 | 31908135 | TTATATTA others(48): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0163 | 1 | 354 | 0.0028 | -55 | c.*66 others(64): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 662 | chr1 | TogoVar | |||||
| PUM1_chr1_30926506_31070717 | 30972269 | AAGGGAAG others(48): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 334 | 0.0030 | -55 | c.150 others(74): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 30972397 | GGGAGGGG others(48): Show |
G | intron_variant | MODIFIER | HG00323.hp1 NA18982.hp1 NA18982.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0002t0004 | a0001c0001t0003g0100a0001c0001t0009g0158a0001c0002t0004g0225 | 3 | 334 | 0.0090 | -55 | c.150 others(74): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
| QRFPR_chr4_121323642_121386018 | 121365573 | AATATATA others(48): Show |
A | intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0304 | 1 | 384 | 0.0026 | -55 | c.340 others(74): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
| RAB28_chr4_13362724_13489340 | 13378731 | AACCACAG others(48): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 196 | 0.0051 | -55 | c.496 others(72): Show |
RAB28 | ENSG00000157869.16 | transcript | ENST00000288723.9 | protein_coding | 5/7 | chr4 | TogoVar | ||||||
| RABEP1_chr17_5277284_5391340 | 5282096 | GCCGCGCT others(48): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02071.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0006a0001c0005t0005 | a0001c0002t0006g0156a0001c0005t0005g0278a0001c0005t0005g0281others(1): Show | 4 | 352 | 0.0114 | -55 | c.-39 others(64): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 187 | chr17 | TogoVar | ||||||
| RABL2B_chr22_50762506_50788636 | 50786200 | GGGTCAGG others(48): Show |
G | upstream_gene_variant | MODIFIER | NA18944.hp1 NA18948.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0148a0001c0001t0001g0206 | 3 | 476 | 0.0063 | -55 | c.-28 others(66): Show |
RABL2B | ENSG00000079974.19 | transcript | ENST00000691320.1 | protein_coding | 2565 | chr22 | TogoVar | ||||||
| RAF1_chr3_12578601_12669117 | 12638551 | GTTTGATT others(48): Show |
G | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 262 | 0.0038 | -55 | c.-26 others(74): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114007218 | TCCCCTCC others(48): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0015 | 1 | 67 | 0.0149 | -55 | c.174 others(72): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114007256 | CCCCCTCC others(48): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 67 | 0.0149 | -55 | c.174 others(72): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | ||||||
| RASGRF1_chr15_78954906_79095780 | 79059337 | TCCTTCCC others(48): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 314 | 0.0032 | -55 | c.384 others(70): Show |
RASGRF1 | ENSG00000058335.16 | transcript | ENST00000558480.7 | protein_coding | 2/26 | chr15 | TogoVar | ||||||
| RASGRF1_chr15_78954906_79095780 | 79085460 | AGCCACTG others(48): Show |
A | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0120 | 1 | 314 | 0.0032 | -55 | c.276 others(72): Show |
RASGRF1 | ENSG00000058335.16 | transcript | ENST00000558480.7 | protein_coding | 1/26 | chr15 | TogoVar |