| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SLC12A7_chr5_1045384_1117063 | 1071000 | GAGCCCCC others(856): Show |
G | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0105 | 1 | 118 | 0.0085 | -863 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129857374 | GGGGGAAC others(856): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 94 | 0.0106 | -863 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393370 | GGGGAGGG others(856): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01884.hp1 others(1): Show |
a0002a0008 | a0002c0003a0008c0020 | a0002c0003t0060a0002c0003t0075a0008c0020t0050 | a0002c0003t0060g0220a0002c0003t0075g0217a0008c0020t0050g0005others(1): Show | 4 | 346 | 0.0116 | -863 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393375 | GGGCAGGT others(856): Show |
G | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0188 | a0001c0001t0188g0051 | 1 | 346 | 0.0029 | -863 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346599 | CCTCTGTG others(855): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 288 | 0.0035 | -862 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827590 | GGCATCGC others(855): Show |
G | intron_variant | MODIFIER | NA18948.hp1 NA18948.hp2 NA19000.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002 | a0002c0001t0001g0072a0002c0001t0001g0123a0002c0001t0001g0154others(1): Show | 4 | 200 | 0.0200 | -862 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| APOBEC1_chr12_7644400_7670908 | 7670047 | CATCTTGG others(854): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(85): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0018a0001c0002t0001g0320a0001c0002t0001g0321others(84): Show | 88 | 432 | 0.2037 | -861 | c.-50 others(11): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 4140 | chr12 | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1318897 | CCCCGTCA others(854): Show |
C | downstream_gene_variant | MODIFIER | NA19068.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0000 | 1 | 406 | 0.0025 | -861 | c.*49 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4140 | chr6 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132231927 | GTGCCACA others(854): Show |
G | intron_variant | MODIFIER | HG01978.hp1 NA19080.hp1 NA19080.hp2 |
a0001a0006 | a0001c0003a0001c0012a0006c0037 | a0001c0003t0001a0001c0012t0002a0006c0037t0001 | a0001c0003t0001g0123a0001c0012t0002g0179a0006c0037t0001g0010 | 3 | 183 | 0.0164 | -861 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1023580 | CCAGCCCA others(854): Show |
C | intron_variant | MODIFIER | HG00438.hp2 NA18612.hp2 NA18939.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0005g0003a0001c0001t0005g0089a0001c0001t0005g0090others(5): Show | 10 | 319 | 0.0314 | -861 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TECPR2_chr14_102357941_102507477 | 102483923 | CGTAGCTG others(854): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG03710.hp2 NA18940.hp2 others(1): Show |
a0006 | a0006c0007 | a0006c0007t0018a0006c0007t0023 | a0006c0007t0018g0138a0006c0007t0018g0140a0006c0007t0018g0323others(1): Show | 4 | 334 | 0.0120 | -861 | c.379 others(21): Show |
TECPR2 | ENSG00000196663.16 | transcript | ENST00000359520.12 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805408 | TCCCCCCT others(853): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 314 | 0.0032 | -860 | c.*12 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1122 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805548 | CGCAGGCC others(853): Show |
C | downstream_gene_variant | MODIFIER | NA18999.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0241 | 1 | 314 | 0.0032 | -860 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1262 | chr2 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132232288 | GGGACAGC others(853): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0026 | a0001c0026t0014 | a0001c0026t0014g0052 | 1 | 183 | 0.0055 | -860 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346205 | CGGGAGGA others(853): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 288 | 0.0035 | -860 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805408 | TCCCCCCT others(853): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 319 | 0.0031 | -860 | c.-38 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3784 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805548 | CGCAGGCC others(853): Show |
C | upstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0061 | 1 | 319 | 0.0031 | -860 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3644 | chr2 | TogoVar | ||||||
| RGPD4_chr2_107821892_107897544 | 107827191 | CGGCGCTG others(853): Show |
C | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 374 | 0.0027 | -860 | c.72+ others(13): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SDHA_chr5_213320_262082 | 258579 | CCAGAGCA others(853): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0064 | 1 | 266 | 0.0038 | -860 | c.*21 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1498 | chr5 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805786 | TCCCCCCT others(852): Show |
T | upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 319 | 0.0031 | -859 | c.-34 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3406 | chr2 | TogoVar | ||||||
| SLC8B1_chr12_113293771_113340109 | 113324956 | AGCCTCCC others(852): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0007 | a0007c0014 | a0007c0014t0003 | a0007c0014t0003g0245 | 1 | 284 | 0.0035 | -859 | c.157 others(17): Show |
SLC8B1 | ENSG00000089060.12 | transcript | ENST00000680972.1 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 376747 | CCCCACCC others(852): Show |
C | upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0023 | 1 | 370 | 0.0027 | -859 | c.-16 others(10): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 722 | chr19 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288757 | CCGTGTCC others(851): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 295 | 0.0034 | -858 | c.*39 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3633 | chr1 | TogoVar | ||||||
| CCDC200_chr17_43216420_43233623 | 43232765 | GCCCTCAT others(851): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG03195.hp2 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0002g0001a0001c0001t0002g0206 | 3 | 334 | 0.0090 | -858 | c.-50 others(11): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 4143 | chr17 | TogoVar | ||||||
| CEP72_chr5_607340_658553 | 630163 | GCCCAGTC others(851): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG00741.hp1 others(37): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0005a0001c0001t0001g0027a0001c0001t0001g0028others(36): Show | 40 | 91 | 0.4396 | -858 | c.513 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CEP72_chr5_607340_658553 | 630396 | GACCCAAG others(851): Show |
G | intron_variant | MODIFIER | NA18960.hp1 NA18963.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032 | 3 | 91 | 0.0330 | -858 | c.513 others(17): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | chr5 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14211317 | TATTTACT others(851): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0082 | 1 | 148 | 0.0068 | -858 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| FBXO34_chr14_55266421_55358611 | 55284466 | TGTGCCAT others(851): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01074.hp2 others(11): Show |
a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0155a0005c0005t0003g0156a0005c0005t0003g0157others(11): Show | 14 | 334 | 0.0419 | -858 | c.-11 others(19): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MPPED1_chr22_43407014_43512848 | 43496019 | GTGGTGAT others(851): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 250 | 0.0040 | -858 | c.633 others(17): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168614688 | GGCCTCTT others(851): Show |
G | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 180 | 0.0056 | -858 | c.907 others(17): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 897411 | TCAGTCAG others(851): Show |
T | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 | 1 | 402 | 0.0025 | -858 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TRIP13_chr5_887884_923120 | 898401 | TCAGTCAG others(851): Show |
T | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 402 | 0.0025 | -858 | c.388 others(17): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241806835 | TTCCCTCC others(850): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 314 | 0.0032 | -857 | c.*26 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2549 | chr2 | TogoVar | ||||||
| SLC43A2_chr17_1564268_1633834 | 1594836 | CCTTGGCC others(850): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0042 | 1 | 382 | 0.0026 | -857 | c.502 others(17): Show |
SLC43A2 | ENSG00000167703.15 | transcript | ENST00000301335.10 | protein_coding | 5/13 | chr17 | TogoVar | ||||||
| AGAP1_chr2_235489043_236136793 | 236068164 | CGGAGGCT others(849): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0065 | 1 | 98 | 0.0102 | -856 | c.211 others(21): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CLIC6_chr21_34663994_34723223 | 34700254 | TGGCTAAC others(849): Show |
T | intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0248 | 1 | 312 | 0.0032 | -856 | c.137 others(19): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CPHXL2_chr16_75655227_75682009 | 75671534 | GACTGGAA others(849): Show |
G | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 392 | 0.0026 | -856 | c.14- others(15): Show |
CPHXL2 | ENSG00000284484.1 | transcript | ENST00000640173.1 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 990419 | ACCCCCTG others(849): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 40 | 0.0250 | -856 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1540550 | GCCGTCCA others(848): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 106 | 0.0094 | -855 | c.101 others(21): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| CLIC6_chr21_34663994_34723223 | 34700229 | CGAGGTCA others(848): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(90): Show |
a0001a0002a0003others(9): Show | a0001c0003a0001c0012a0001c0026others(15): Show | a0001c0003t0021a0001c0003t0034a0001c0012t0025others(37): Show | a0001c0003t0021g0184a0001c0003t0021g0185a0001c0003t0021g0186others(82): Show | 93 | 312 | 0.2981 | -855 | c.137 others(19): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| DPF3_chr14_72604034_72899101 | 72866243 | AGTCTGTT others(848): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0051a0001c0001t0003g0050a0001c0001t0006g0231others(1): Show | 4 | 234 | 0.0171 | -855 | c.32+ others(17): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
| FAM210A_chr18_13658347_13731558 | 13674584 | ACTTTATT others(848): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0111a0001c0001t0011g0113 | 2 | 326 | 0.0061 | -855 | c.474 others(17): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745495 | GCCCCGGG others(848): Show |
G | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0304 | 1 | 366 | 0.0027 | -855 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745556 | GGGGGTCG others(848): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0082a0001c0001t0006g0083 | 2 | 366 | 0.0055 | -855 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PITPNC1_chr17_67372281_67702256 | 67451799 | GGCTAATT others(848): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG02074.hp2 HG02165.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0163a0001c0001t0003g0038a0001c0001t0004g0129others(4): Show | 7 | 218 | 0.0321 | -855 | c.48+ others(17): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SERPINF2_chr17_1737871_1760265 | 1740607 | GGGTGGGA others(848): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00558.hp1 others(32): Show |
a0003 | a0003c0003a0003c0006a0003c0015 | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(2): Show | a0003c0003t0001g0003a0003c0003t0001g0007a0003c0003t0001g0015others(21): Show | 35 | 445 | 0.0787 | -855 | c.-23 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2263 | chr17 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1740607 | GGGTGGGA others(848): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00738.hp2 others(24): Show |
a0001a0007 | a0001c0003a0001c0017a0001c0022others(2): Show | a0001c0003t0001a0001c0003t0006a0001c0017t0001others(3): Show | a0001c0003t0001g0003a0001c0003t0001g0029a0001c0003t0001g0035others(10): Show | 27 | 431 | 0.0627 | -855 | c.*29 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2023 | chr17 | TogoVar | ||||||
| ARRB2_chr17_4705632_4726497 | 4722573 | TCCCAAAG others(847): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 432 | 0.0023 | -854 | c.*15 others(11): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 1077 | chr17 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 320273 | GGACCGAA others(847): Show |
G | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0110 | 1 | 256 | 0.0039 | -854 | c.827 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GAB3_chrX_154670249_154756077 | 154709181 | TCCTTCCT others(847): Show |
T | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 257 | 0.0039 | -854 | c.106 others(19): Show |
GAB3 | ENSG00000160219.12 | transcript | ENST00000424127.3 | protein_coding | 4/9 | chrX | TogoVar |