| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TNS1_chr2_217794791_218007995 | 217809316 | C | CATGGATG others(521): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0006 | a0006c0108 | a0006c0108t0085 | a0006c0108t0085g0139 | 1 | 244 | 0.0041 | 528 | c.527 others(545): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 30/32 | chr2 | TogoVar | ||||||
| TNS1_chr2_217794791_218007995 | 217809316 | C | CATGGATG others(521): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0004 | a0004c0095 | a0004c0095t0099 | a0004c0095t0099g0078 | 1 | 244 | 0.0041 | 528 | c.527 others(545): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 30/32 | chr2 | TogoVar | ||||||
| TOP3A_chr17_18266428_18319994 | 18298410 | T | TCCCCGTC others(521): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0058 | 1 | 388 | 0.0026 | 528 | c.990 others(545): Show |
TOP3A | ENSG00000177302.16 | transcript | ENST00000321105.10 | protein_coding | 9/18 | chr17 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507168 | C | CATACGTA others(521): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 388 | 0.0026 | 528 | c.-23 others(545): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| TRIML1_chr4_188134441_188152743 | 188151353 | C | CTGAGAAG others(521): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0121 | 1 | 228 | 0.0044 | 528 | c.*39 others(539): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 3611 | chr4 | TogoVar | ||||||
| TRIP13_chr5_887884_923120 | 898005 | G | GCAGTCAG others(521): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 402 | 0.0025 | 528 | c.388 others(545): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TRPC4AP_chr20_34997404_35097807 | 35097570 | T | TGTGTATA others(521): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0143 | 1 | 334 | 0.0030 | 528 | c.-47 others(539): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4764 | chr20 | TogoVar | ||||||
| TTLL8_chr22_50013575_50063298 | 50028618 | G | GAAGACCC others(521): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03195.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0198a0004c0004t0001g0206 | 2 | 224 | 0.0089 | 528 | c.225 others(547): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| UBE2J2_chr1_1248912_1278854 | 1249037 | G | GCGAGGGA others(521): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG03834.hp1 NA18971.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238a0001c0001t0001g0274a0001c0001t0001g0289others(1): Show | 4 | 324 | 0.0124 | 528 | c.*61 others(539): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4874 | chr1 | TogoVar | ||||||
| UBE2J2_chr1_1248912_1278854 | 1249037 | G | GCGAGGGA others(521): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037a0001c0001t0002g0038 | 2 | 324 | 0.0062 | 528 | c.*61 others(539): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4874 | chr1 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133828464 | G | GCTACCGC others(521): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0057 | 1 | 200 | 0.0050 | 528 | c.449 others(545): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8466909 | A | AGGGAGGG others(521): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0045 | a0045c0044 | a0045c0044t0002 | a0045c0044t0002g0006 | 1 | 271 | 0.0037 | 528 | c.*52 others(537): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 400 | chrX | TogoVar | ||||||
| VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(521): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 246 | 0.0041 | 528 | c.53- others(541): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| XG_chrX_2747040_2821500 | 2773521 | A | AGGAAGGA others(521): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 322 | 0.0031 | 528 | c.104 others(545): Show |
XG | ENSG00000124343.14 | transcript | ENST00000644266.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ZNF561_chr19_9602329_9626232 | 9603766 | A | AAGAAAGA others(521): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 386 | 0.0026 | 528 | c.*64 others(539): Show |
ZNF561 | ENSG00000171469.11 | transcript | ENST00000302851.8 | protein_coding | 3562 | chr19 | TogoVar | ||||||
| ACTRT2_chr1_3016467_3027903 | 3016686 | A | AGGGACGG others(522): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG03098.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 366 | 0.0109 | 529 | c.-50 others(540): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4780 | chr1 | TogoVar | ||||||
| ADAM22_chr7_87929251_88207889 | 88110829 | G | GCCTCCCA others(522): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02698.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0009a0003c0003t0001g0051a0003c0003t0001g0077others(1): Show | 4 | 230 | 0.0174 | 529 | c.473 others(546): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ADAM22_chr7_87929251_88207889 | 88110829 | G | GCCTCCCA others(522): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01261.hp2 others(18): Show |
a0001 | a0001c0001a0001c0012a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0026a0001c0001t0001g0044others(18): Show | 21 | 230 | 0.0913 | 529 | c.473 others(546): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ADGRB1_chr8_142444649_142550007 | 142500274 | C | CTCCTCCC others(522): Show |
intron_variant | MODIFIER | NA19011.hp1 NA19011.hp2 |
a0002 | a0002c0005 | a0002c0005t0002a0002c0005t0005 | a0002c0005t0002g0099a0002c0005t0005g0245 | 2 | 310 | 0.0065 | 529 | c.267 others(548): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(522): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0008 | a0004c0008t0107 | a0004c0008t0107g0013 | 1 | 262 | 0.0038 | 529 | c.106 others(548): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687370 | C | CCCCGTGA others(522): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0167 | 1 | 246 | 0.0041 | 529 | c.-17 others(540): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1525 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687515 | C | CGTGACCA others(522): Show |
upstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0192 | 1 | 246 | 0.0041 | 529 | c.-19 others(540): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1670 | chr8 | TogoVar | ||||||
| ATG10_chr5_81967023_82261133 | 82140339 | T | TGCCCGGC others(522): Show |
intron_variant | MODIFIER | HG01074.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169a0001c0001t0003g0170 | 2 | 226 | 0.0089 | 529 | c.217 others(548): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(522): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 529 | c.*36 others(540): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(522): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 529 | c.*36 others(540): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835508 | G | GTCCAGGC others(522): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG06807.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0004a0002c0005t0001g0013 | 2 | 391 | 0.0051 | 529 | c.*36 others(540): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3491 | chr19 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835508 | G | GTCCAGGC others(522): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0010 | 1 | 391 | 0.0026 | 529 | c.*36 others(540): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3491 | chr19 | TogoVar | ||||||
| B4GALNT4_chr11_364499_387117 | 374730 | A | AGGAAGGG others(522): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 184 | 0.0054 | 529 | c.784 others(544): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BAIAP3_chr16_1328645_1354439 | 1339871 | A | AGACACAC others(522): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 | 1 | 358 | 0.0028 | 529 | c.408 others(544): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(522): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0017 | 1 | 300 | 0.0033 | 529 | c.-70 others(538): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
| C20orf96_chr20_265863_295750 | 279069 | A | AGGGAGGG others(522): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0139 | 1 | 410 | 0.0024 | 529 | c.465 others(544): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1107764 | A | AGGAGGGC others(522): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 326 | 0.0031 | 529 | c.129 others(548): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| CAMKMT_chr2_44356947_44777592 | 44588992 | T | TACTGGGA others(522): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 198 | 0.0051 | 529 | c.377 others(550): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
| CAMKMT_chr2_44356947_44777592 | 44588992 | T | TACTGGGA others(522): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 198 | 0.0051 | 529 | c.377 others(550): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(522): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 NA18906.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0006a0002c0001t0002g0051 | 2 | 354 | 0.0057 | 529 | c.*69 others(540): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(522): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0002 | 1 | 354 | 0.0028 | 529 | c.*69 others(540): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
| COL17A1_chr10_104026286_104090880 | 104036145 | G | GGAGTGTG others(522): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0139 | 1 | 336 | 0.0030 | 529 | c.341 others(546): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 48/55 | chr10 | TogoVar | ||||||
| COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(522): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 182 | 0.0055 | 529 | c.267 others(546): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(522): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 182 | 0.0055 | 529 | c.267 others(546): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(522): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01106.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0008a0001c0005t0010others(3): Show | a0001c0001t0001g0077a0001c0001t0001g0079a0001c0001t0001g0178others(6): Show | 9 | 182 | 0.0495 | 529 | c.267 others(546): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| COL9A3_chr20_62812050_62846159 | 62825154 | A | AGGGAGGG others(522): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0123 | 1 | 412 | 0.0024 | 529 | c.630 others(544): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CUL4A_chr13_113204613_113272108 | 113232254 | C | CTGCCACC others(522): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 396 | 0.0025 | 529 | c.513 others(544): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132135097 | G | GCTCCTCC others(522): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 NA18953.hp1 NA19004.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0040 | 7 | 334 | 0.0210 | 529 | c.*41 others(540): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1496 | chr12 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 478176 | G | GAAGAAGG others(522): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 88 | 0.0114 | 529 | c.158 others(546): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 556156 | G | GCACCCAC others(522): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03579.hp2 |
a0001 | a0001c0002a0001c0021 | a0001c0002t0003a0001c0021t0002 | a0001c0002t0003g0082a0001c0021t0002g0081 | 2 | 88 | 0.0227 | 529 | c.86- others(546): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 556156 | G | GCACCCAC others(522): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 88 | 0.0114 | 529 | c.86- others(546): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| EFCAB6_chr22_43523778_43817305 | 43730259 | A | AAAGGATG others(522): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0153 | 2 | 290 | 0.0069 | 529 | c.757 others(546): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar | ||||||
| EFNA2_chr19_1280873_1306431 | 1282688 | G | GAGAGGAG others(522): Show |
upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 294 | 0.0034 | 529 | c.-34 others(540): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3184 | chr19 | TogoVar | ||||||
| EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(522): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0075 | 1 | 250 | 0.0040 | 529 | c.188 others(548): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| FBXO47_chr17_38931432_38972403 | 38946669 | T | TATATAAA others(522): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 344 | 0.0029 | 529 | c.617 others(546): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar |