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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBE3A_chr15_25328728_25444024 | 25430050 | T | TATGTATT others(100): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02717.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0021a0001c0001t0004g0042a0001c0001t0004g0043 | 3 | 298 | 0.0101 | 107 | c.-16 others(126): Show |
UBE3A | ENSG00000114062.22 | transcript | ENST00000648336.2 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917117 | A | ACGGGGGT others(100): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 344 | 0.0029 | 107 | c.218 others(122): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35248266 | A | AAGAAATA others(100): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0048 | 1 | 64 | 0.0156 | 107 | c.103 others(126): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
UNC5D_chr8_35230475_35801540 | 35248297 | A | AAGAAATA others(100): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006 | a0001c0001t0002g0049a0001c0002t0006g0055 | 2 | 64 | 0.0313 | 107 | c.103 others(126): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
USH2A_chr1_215617891_216428448 | 216050576 | C | CCTTTCCT others(100): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0023 | a0023c0064 | a0023c0064t0001 | a0023c0064t0001g0051 | 1 | 74 | 0.0135 | 107 | c.605 others(126): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 30/71 | chr1 | TogoVar | ||||||
USP25_chr21_15724982_15885064 | 15762129 | T | TAAAAAAG others(100): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01192.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(1): Show | 4 | 200 | 0.0200 | 107 | c.46- others(120): Show |
USP25 | ENSG00000155313.16 | transcript | ENST00000400183.7 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
USP30_chr12_109047576_109093023 | 109055400 | A | ATATATAT others(100): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 396 | 0.0025 | 107 | c.84- others(122): Show |
USP30 | ENSG00000135093.13 | transcript | ENST00000257548.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UVSSA_chr4_1342208_1393049 | 1372767 | T | TCCCTGCA others(100): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0007 | a0003c0007t0033 | a0003c0007t0033g0085 | 1 | 400 | 0.0025 | 107 | c.128 others(126): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
VEGFB_chr11_64229584_64244264 | 64237123 | G | GAGAGAGA others(100): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 328 | 0.0031 | 107 | c.375 others(120): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
VEGFB_chr11_64229584_64244264 | 64237123 | G | GAGAGAGA others(100): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 328 | 0.0031 | 107 | c.375 others(120): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159101882 | G | GTAGCAAA others(100): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0005 | a0001c0005t0047 | a0001c0005t0047g0327 | 1 | 336 | 0.0030 | 107 | c.357 others(124): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159102083 | C | CGTTCCTG others(100): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03453.hp1 |
a0001 | a0001c0005 | a0001c0005t0013a0001c0005t0028 | a0001c0005t0013g0315a0001c0005t0028g0299 | 2 | 336 | 0.0060 | 107 | c.357 others(124): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
WWP2_chr16_69757332_69946739 | 69919195 | T | TGCTCTTG others(100): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(264): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(37): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0010others(264): Show | 267 | 314 | 0.8503 | 107 | c.117 others(126): Show |
WWP2 | ENSG00000198373.13 | transcript | ENST00000359154.7 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZBTB7A_chr19_4038303_4071899 | 4054027 | G | GCGGATGT others(100): Show |
frameshift_variant | HIGH | HG01515.hp2 | a0004 | a0004c0011 | a0004c0011t0105 | a0004c0011t0105g0153 | 1 | 276 | 0.0036 | 107 | c.109 others(116): Show |
p.Thr others(5): Show |
ZBTB7A | ENSG00000178951.9 | transcript | ENST00000322357.9 | protein_coding | 2/3 | 1438/6437 | 1205/1755 | 402/584 | chr19 | TogoVar | ||
ZC3H3_chr8_143432659_143546447 | 143493027 | G | GTGTCCTG others(100): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0221 | 1 | 352 | 0.0028 | 107 | c.171 others(128): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88460982 | G | GGCGGGAG others(100): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0004 | a0004c0016 | a0004c0016t0006 | a0004c0016t0006g0051 | 1 | 318 | 0.0031 | 107 | c.40+ others(122): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZFYVE28_chr4_2264597_2423645 | 2398698 | C | CGAGATCC others(100): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 290 | 0.0035 | 107 | c.39+ others(124): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
ZMYM6_chr1_34981165_35036945 | 34992713 | C | CTATAAAT others(100): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02486.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0009a0001c0003t0001g0136a0001c0003t0001g0137others(3): Show | 8 | 310 | 0.0258 | 107 | c.199 others(124): Show |
ZMYM6 | ENSG00000163867.17 | transcript | ENST00000357182.9 | protein_coding | 14/15 | chr1 | TogoVar | ||||||
ZNF16_chr8_144925358_144955880 | 144946606 | T | TGGGGCTG others(100): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0105 | 1 | 404 | 0.0025 | 107 | c.-9- others(120): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
ZNF236_chr18_76817557_76977901 | 76975154 | C | CCTTTTCT others(100): Show |
downstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 346 | 0.0029 | 107 | c.*68 others(118): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 2254 | chr18 | TogoVar | ||||||
ZNF532_chr18_58859877_58991480 | 58888742 | T | TATATATA others(100): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 354 | 0.0028 | 107 | c.-18 others(126): Show |
ZNF532 | ENSG00000074657.14 | transcript | ENST00000591808.6 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
ZNF544_chr19_58223914_58268644 | 58241179 | A | AAATATAT others(100): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0222 | 1 | 394 | 0.0025 | 107 | c.-59 others(124): Show |
ZNF544 | ENSG00000198131.15 | transcript | ENST00000687789.1 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ZNF681_chr19_23734195_23763891 | 23761901 | A | ATCCTTCC others(100): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 394 | 0.0025 | 107 | c.-31 others(118): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3011 | chr19 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288223 | G | GTGTCCCT others(101): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 295 | 0.0034 | 108 | c.*53 others(119): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4167 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288275 | C | CCGTGTCT others(101): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 295 | 0.0034 | 108 | c.*52 others(119): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4115 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288275 | C | CCGTGTCT others(101): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 295 | 0.0034 | 108 | c.*52 others(119): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4115 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288627 | C | CCGTGTCT others(101): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 295 | 0.0034 | 108 | c.*49 others(119): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3763 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288813 | C | CCGTGTCT others(101): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 295 | 0.0034 | 108 | c.*47 others(119): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3577 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288943 | C | CCGTGTCT others(101): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 295 | 0.0034 | 108 | c.*46 others(119): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3447 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289167 | C | CCGTGTCT others(101): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 295 | 0.0034 | 108 | c.*43 others(119): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3223 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289785 | C | CCGTGTCT others(101): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 295 | 0.0034 | 108 | c.*37 others(119): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2605 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1290128 | C | CCGTGTCC others(101): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 295 | 0.0034 | 108 | c.*34 others(119): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2262 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1290137 | T | TCTGCTCC others(101): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 295 | 0.0034 | 108 | c.*34 others(119): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2253 | chr1 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44074734 | C | CTCTTTCT others(101): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0205 | 1 | 438 | 0.0023 | 108 | c.489 others(121): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACSF3_chr16_89088852_89161233 | 89117922 | G | GCTCCCTC others(101): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0014others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(48): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0084others(248): Show | 255 | 368 | 0.6929 | 108 | c.112 others(127): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSF3_chr16_89088852_89161233 | 89117922 | G | GCTCCCTC others(101): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0272 | 1 | 368 | 0.0027 | 108 | c.112 others(127): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM2B_chr16_20531226_20581367 | 20566645 | C | CTATATAT others(101): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0215 | 1 | 388 | 0.0026 | 108 | c.-8- others(123): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129578103 | C | CATATGCA others(101): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01346.hp2 HG01891.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0001t0013a0001c0006t0001others(1): Show | a0001c0001t0002g0032a0001c0001t0002g0175a0001c0001t0002g0176others(5): Show | 8 | 226 | 0.0354 | 108 | c.137 others(129): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129578236 | G | GTACATAT others(101): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 | 1 | 226 | 0.0044 | 108 | c.137 others(129): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS2_chr5_179105853_179350461 | 179217805 | G | GGGCACAC others(101): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0006 | a0006c0011 | a0006c0011t0003 | a0006c0011t0003g0174 | 1 | 276 | 0.0036 | 108 | c.689 others(127): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179217878 | C | CGGCACAC others(101): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0012 | a0012c0055 | a0012c0055t0001 | a0012c0055t0001g0019 | 1 | 276 | 0.0036 | 108 | c.689 others(127): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530036 | A | AATATATT others(101): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 182 | 0.0055 | 108 | c.504 others(127): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230421 | A | ATATATAT others(101): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18991.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0002g0181 | 3 | 204 | 0.0147 | 108 | c.193 others(127): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230448 | A | ATATATAT others(101): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 204 | 0.0049 | 108 | c.193 others(127): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1326902 | G | GCCTCCCC others(101): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0036a0001c0001t0051 | a0001c0001t0011g0026a0001c0001t0036g0072a0001c0001t0051g0051 | 3 | 106 | 0.0283 | 108 | c.107 others(129): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1327110 | G | GGCACAGC others(101): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0027 | 1 | 106 | 0.0094 | 108 | c.107 others(129): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1327481 | T | TCACTGCA others(101): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0003 | a0003c0006 | a0003c0006t0067 | a0003c0006t0067g0080 | 1 | 106 | 0.0094 | 108 | c.107 others(129): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144381096 | G | GGCTGGGT others(101): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 346 | 0.0029 | 108 | c.116 others(125): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADCK5_chr8_144369047_144398242 | 144382058 | C | CAGGATTA others(101): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(137): Show |
a0001a0005a0008others(2): Show | a0001c0001a0001c0012a0005c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0061a0001c0001t0001g0125a0001c0001t0002g0001others(78): Show | 140 | 346 | 0.4046 | 108 | c.117 others(123): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADCK5_chr8_144369047_144398242 | 144382058 | C | CAGGATTA others(101): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 2 | 346 | 0.0058 | 108 | c.117 others(123): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |