| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACOX1_chr17_75936507_75984166 | 75968722 | AGACCAGC others(664): Show |
A | intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0334 | 1 | 344 | 0.0029 | -671 | c.270 others(17): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132134875 | ACGGTGCC others(664): Show |
A | downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | -671 | c.*37 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1718 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132134931 | CCCCGAGT others(664): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 334 | 0.0030 | -671 | c.*36 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1662 | chr12 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 320371 | TCAGAGAT others(664): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0058 | a0058c0132 | a0058c0132t0001 | a0058c0132t0001g0066 | 1 | 256 | 0.0039 | -671 | c.827 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EZR_chr6_158760748_158824368 | 158802930 | GCGATTCT others(664): Show |
G | intron_variant | MODIFIER | HG03139.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0043a0001c0001t0013g0044 | 2 | 312 | 0.0064 | -671 | c.13- others(17): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
| PLIN3_chr19_4833341_4872667 | 4863114 | GCCACTGC others(664): Show |
G | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0315 | 1 | 446 | 0.0022 | -671 | c.-17 others(17): Show |
PLIN3 | ENSG00000105355.9 | transcript | ENST00000221957.9 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 259951 | CCAGAGCA others(664): Show |
C | downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 266 | 0.0038 | -671 | c.*35 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2870 | chr5 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 117010053 | GAAAAGGG others(664): Show |
G | intron_variant | MODIFIER | NA18944.hp1 NA18947.hp1 NA18951.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0287a0001c0002t0003g0288a0001c0002t0003g0290others(3): Show | 6 | 366 | 0.0164 | -671 | c.274 others(19): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
| SLC16A7_chr12_59591029_59794841 | 59790004 | ATACAATG others(664): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0195 | 1 | 260 | 0.0039 | -671 | c.*10 others(13): Show |
SLC16A7 | ENSG00000118596.12 | transcript | ENST00000547379.6 | protein_coding | 164 | chr12 | TogoVar | ||||||
| SPIRE1_chr18_12441512_12663107 | 12467233 | GTGCCACT others(664): Show |
G | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 328 | 0.0031 | -671 | c.140 others(19): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 10/16 | chr18 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237058 | CCCTCTGC others(663): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0039 | a0001c0003t0039g0044 | 1 | 106 | 0.0094 | -670 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| AP2B1_chr17_35582322_35731413 | 35584745 | ACAAATTT others(663): Show |
A | upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0137 | 1 | 372 | 0.0027 | -670 | c.-27 others(11): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 2576 | chr17 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132134897 | CCCGAGTG others(663): Show |
C | downstream_gene_variant | MODIFIER | NA18986.hp1 NA19070.hp1 |
a0005 | a0005c0007 | a0005c0007t0011a0005c0007t0022 | a0005c0007t0011g0019a0005c0007t0022g0085 | 2 | 334 | 0.0060 | -670 | c.*37 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1696 | chr12 | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1318872 | GACTAGCC others(663): Show |
G | downstream_gene_variant | MODIFIER | NA18994.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0000 | 1 | 406 | 0.0025 | -670 | c.*49 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4115 | chr6 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132223362 | CNNNNNNN others(663): Show |
C | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 183 | 0.0055 | -670 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GASK1A_chr3_42974311_43062715 | 43012249 | TCACAGGA others(663): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02615.hp1 others(3): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0001 | a0002c0002t0002g0206a0002c0002t0002g0208a0002c0002t0002g0237others(3): Show | 6 | 342 | 0.0175 | -670 | c.4-2 others(15): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| HLA-DRB1_chr6_32573775_32594848 | 32594178 | GATTATTT others(663): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show |
a0002a0003a0005others(24): Show | a0002c0003a0003c0002a0005c0008others(26): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(27): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(82): Show | 152 | 208 | 0.7308 | -670 | c.-51 others(11): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 4331 | chr6 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510838 | TATGTATA others(663): Show |
T | intron_variant | MODIFIER | HG01261.hp1 | a0005 | a0005c0020 | a0005c0020t0075 | a0005c0020t0075g0053 | 1 | 244 | 0.0041 | -670 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 254825 | TACGTACT others(663): Show |
T | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0032 | 1 | 133 | 0.0075 | -670 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 257215 | ATCCCTAG others(663): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG03017.hp2 NA18951.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0124a0001c0001t0002g0028a0001c0001t0004g0087others(1): Show | 4 | 133 | 0.0301 | -670 | c.439 others(18): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 257293 | CGTGACTA others(663): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0110a0001c0004t0001g0048 | 2 | 133 | 0.0150 | -670 | c.439 others(19): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| SLC35G4_chr18_11604596_11615612 | 11613387 | TAGGTGAG others(663): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02809.hp1 others(2): Show |
a0003a0020 | a0003c0003a0020c0018 | a0003c0003t0000a0020c0018t0000 | a0003c0003t0000g0000a0020c0018t0000g0000 | 5 | 444 | 0.0113 | -670 | c.*27 others(11): Show |
SLC35G4 | ENSG00000236396.8 | transcript | ENST00000588001.2 | protein_coding | 2776 | chr18 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805672 | CTCCCCCC others(662): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG01257.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0197a0002c0002t0002g0120a0002c0002t0002g0145 | 3 | 314 | 0.0096 | -669 | c.*15 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1386 | chr2 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132231396 | TCCCTAGT others(662): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0008 | 1 | 183 | 0.0055 | -669 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805638 | TCCCCCCT others(662): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 | 1 | 319 | 0.0031 | -669 | c.-36 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3554 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805672 | CTCCCCCC others(662): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0018a0001c0001t0003g0010a0001c0001t0003g0081 | 3 | 319 | 0.0094 | -669 | c.-36 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3520 | chr2 | TogoVar | ||||||
| TENM1_chrX_124370903_125209312 | 125100329 | ATTGTGGA others(662): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0055 | 1 | 140 | 0.0071 | -669 | c.-65 others(19): Show |
TENM1 | ENSG00000009694.14 | transcript | ENST00000422452.4 | protein_coding | 3/34 | chrX | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25758096 | CCACCTGC others(661): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03491.hp2 |
a0002a0012 | a0002c0002a0012c0012 | a0002c0002t0001a0012c0012t0001 | a0002c0002t0001g0209a0012c0012t0001g0018 | 2 | 300 | 0.0067 | -668 | c.654 others(19): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 421232 | ATACACAC others(661): Show |
A | intron_variant | MODIFIER | NA18999.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100 | 1 | 432 | 0.0023 | -668 | c.413 others(17): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | ||||||
| DENND1A_chr9_123374658_123935126 | 123854736 | AATGAAGC others(661): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0084 | 1 | 162 | 0.0062 | -668 | c.88+ others(17): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 2/23 | chr9 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79886297 | GGACAGGG others(661): Show |
G | intron_variant | MODIFIER | HG00558.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0257 | 2 | 312 | 0.0064 | -668 | c.625 others(19): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LINGO2_chr9_27932617_29218601 | 29173931 | CATTCTTT others(661): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0002 | 1 | 62 | 0.0161 | -668 | c.-49 others(21): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| SCHIP1_chr3_159268244_159902359 | 159539232 | TGGATCAA others(661): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01167.hp1 HG01169.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0036others(23): Show | 26 | 100 | 0.2600 | -668 | c.64- others(19): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
| ANK2_chr4_113044653_113388736 | 113262682 | AAGTACAG others(660): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG03453.hp1 |
a0002a0003 | a0002c0035a0003c0034 | a0002c0035t0001a0003c0034t0001 | a0002c0035t0001g0169a0003c0034t0001g0056 | 2 | 178 | 0.0112 | -667 | c.138 others(19): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 13/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| DDX51_chr12_132131594_132149319 | 132134686 | CCCGAGTG others(660): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0022 | a0002c0022t0003 | a0002c0022t0003g0035 | 1 | 334 | 0.0030 | -667 | c.*39 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1907 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132135271 | CACTCCTC others(660): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0020 | a0001c0020t0029 | a0001c0020t0029g0070 | 1 | 334 | 0.0030 | -667 | c.*33 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1322 | chr12 | TogoVar | ||||||
| DENND1A_chr9_123374658_123935126 | 123854737 | ATGAAGCA others(660): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0085a0001c0001t0008g0083 | 2 | 162 | 0.0124 | -667 | c.88+ others(17): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 2/23 | chr9 | TogoVar | ||||||
| DNAH7_chr2_195732703_196073837 | 196043565 | GACCTAAT others(660): Show |
G | intron_variant | MODIFIER | HG02970.hp1 NA18522.hp1 |
a0043a0051 | a0043c0065a0051c0067 | a0043c0065t0001a0051c0067t0001 | a0043c0065t0001g0093a0051c0067t0001g0092 | 2 | 256 | 0.0078 | -667 | c.398 others(17): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 5/64 | chr2 | TogoVar | ||||||
| EIF3H_chr8_116637130_116760823 | 116679398 | GGGAGGGA others(660): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0157 | 1 | 336 | 0.0030 | -667 | c.290 others(19): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
| EIF3H_chr8_116637130_116760823 | 116679446 | CGGGAGGT others(660): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0152a0001c0001t0009g0153a0001c0001t0009g0154others(2): Show | 5 | 336 | 0.0149 | -667 | c.290 others(19): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
| FRMD4A_chr10_13638706_14335924 | 14199762 | TAATCTTT others(660): Show |
T | intron_variant | MODIFIER | NA18971.hp1 NA19007.hp2 NA19009.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0009a0001c0001t0003g0114a0001c0001t0007g0015others(1): Show | 4 | 134 | 0.0299 | -667 | c.45+ others(19): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80315102 | ATGGTGGT others(660): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG03225.hp1 HG03579.hp2 others(1): Show |
a0015a0044 | a0015c0018a0044c0097 | a0015c0018t0022a0015c0018t0062a0044c0097t0022 | a0015c0018t0022g0025a0015c0018t0022g0085a0015c0018t0062g0024others(1): Show | 4 | 292 | 0.0137 | -667 | c.281 others(19): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SKI_chr1_2223319_2315213 | 2281208 | AGGACGCC others(660): Show |
A | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0113 | 1 | 330 | 0.0030 | -667 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| STRC_chr15_43594563_43623800 | 43623133 | AAATTATA others(660): Show |
A | upstream_gene_variant | MODIFIER | HG02738.hp2 HG03688.hp2 HG04115.hp2 |
a0002 | a0002c0002a0002c0015 | a0002c0002t0001a0002c0015t0001 | a0002c0002t0001g0068a0002c0002t0001g0069a0002c0015t0001g0070 | 3 | 374 | 0.0080 | -667 | c.-50 others(11): Show |
STRC | ENSG00000242866.10 | transcript | ENST00000450892.7 | protein_coding | 4334 | chr15 | TogoVar | ||||||
| ARHGAP8_chr22_44747575_44867784 | 44856553 | CGTGAGCC others(659): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(49): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0004a0002c0003others(19): Show | a0001c0001t0009a0001c0001t0010a0001c0004t0010others(21): Show | a0001c0001t0009g0173a0001c0001t0009g0321a0001c0001t0010g0198others(49): Show | 52 | 390 | 0.1333 | -666 | c.878 others(17): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BPHL_chr6_3113711_3158578 | 3146201 | TGGAGTGC others(659): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02809.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034a0001c0001t0004g0209 | 3 | 350 | 0.0086 | -666 | c.788 others(17): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CACNA1B_chr9_137872782_138129619 | 138018008 | TCAGGTGC others(659): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG02886.hp2 others(4): Show |
a0002 | a0002c0001a0002c0004a0002c0010 | a0002c0001t0002a0002c0004t0005a0002c0004t0007others(2): Show | a0002c0001t0002g0196a0002c0004t0005g0195a0002c0004t0007g0176others(4): Show | 7 | 248 | 0.0282 | -666 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CNN2_chr19_1021608_1044065 | 1034406 | GACCGGGA others(659): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 390 | 0.0026 | -666 | c.391 others(17): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CWF19L1_chr10_100227298_100272638 | 100242692 | ATTTCATA others(659): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 364 | 0.0028 | -666 | c.104 others(18): Show |
CWF19L1 | ENSG00000095485.18 | transcript | ENST00000354105.10 | protein_coding | 10/13 | chr10 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132135674 | CCCCGAGT others(659): Show |
C | downstream_gene_variant | MODIFIER | HG02630.hp1 | a0008 | a0008c0010 | a0008c0010t0012 | a0008c0010t0012g0015 | 1 | 334 | 0.0030 | -666 | c.*29 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 919 | chr12 | TogoVar |