| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OR2T6_chr1_248370746_248396811 | 248384006 | GAAAGCAC others(265): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02896.hp1 HG02897.hp1 others(6): Show |
a0004 | a0004c0004a0004c0017 | a0004c0004t0007a0004c0004t0015a0004c0004t0018others(1): Show | a0004c0004t0007g0033a0004c0004t0007g0034a0004c0004t0015g0021others(3): Show | 9 | 403 | 0.0223 | -272 | c.-15 others(17): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRR7_chr5_177441814_177461286 | 177451509 | ACCCTCAG others(265): Show |
A | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 332 | 0.0030 | -272 | c.-32 others(19): Show |
PRR7 | ENSG00000131188.12 | transcript | ENST00000323249.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 288593 | CCTCTCTC others(265): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0113 | 1 | 133 | 0.0075 | -272 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 295505 | TGCTGCAG others(265): Show |
T | intron_variant | MODIFIER | HG00408.hp1 NA18959.hp1 NA18995.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0026 | a0001c0001t0001g0009a0001c0001t0001g0027a0001c0001t0001g0110others(2): Show | 5 | 133 | 0.0376 | -272 | c.352 others(19): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SERPINF2_chr17_1737871_1760265 | 1741319 | GACAGTGA others(265): Show |
G | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0047 | 1 | 445 | 0.0023 | -272 | c.-15 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1551 | chr17 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1070037 | CCCCCAGT others(265): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0031 | a0001c0031t0003 | a0001c0031t0003g0007 | 1 | 118 | 0.0085 | -272 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79921158 | CCGAGGGA others(265): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0277 | 1 | 352 | 0.0028 | -272 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1094520 | CCTGGACT others(265): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG03490.hp2 |
a0003a0004 | a0003c0008a0004c0014 | a0003c0008t0001a0004c0014t0001 | a0003c0008t0001g0095a0004c0014t0001g0054 | 2 | 190 | 0.0105 | -272 | c.211 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1094559 | ATGGTAGA others(265): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0096 | 1 | 190 | 0.0053 | -272 | c.211 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPPL2B_chr19_2323684_2360095 | 2348119 | CTCCACAC others(265): Show |
C | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0200 | 1 | 414 | 0.0024 | -272 | c.135 others(19): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | chr19 | TogoVar | ||||||
| TMEM163_chr2_134450759_134724000 | 134609556 | CCCCGAGA others(265): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01978.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0090a0001c0001t0001g0119a0001c0001t0002g0120others(6): Show | 9 | 222 | 0.0405 | -272 | c.323 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
| TPCN2_chr11_69043932_69095597 | 69069174 | TGTCTGAG others(265): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG04115.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0137a0003c0003t0002g0160 | 2 | 404 | 0.0050 | -272 | c.830 others(16): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| TUBGCP2_chr10_133273635_133313872 | 133291372 | TCCGTGTC others(265): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0087 | 1 | 284 | 0.0035 | -272 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| UQCR10_chr22_29762369_29775413 | 29774971 | TTGCCTCA others(265): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02809.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 414 | 0.0097 | -272 | c.*52 others(11): Show |
UQCR10 | ENSG00000184076.13 | transcript | ENST00000330029.6 | protein_coding | 4559 | chr22 | TogoVar | ||||||
| XG_chrX_2747040_2821500 | 2773502 | AGAAGGAA others(265): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 322 | 0.0031 | -272 | c.104 others(16): Show |
XG | ENSG00000124343.14 | transcript | ENST00000644266.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1265543 | CGGGGGCC others(264): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG02258.hp2 NA19043.hp2 |
a0002a0003 | a0002c0002a0002c0004a0003c0006 | a0002c0002t0005a0002c0004t0005a0003c0006t0067 | a0002c0002t0005g0028a0002c0004t0005g0029a0003c0006t0067g0080 | 3 | 106 | 0.0283 | -271 | c.119 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
| C11orf21_chr11_2290628_2306918 | 2291166 | CGCAGAGG others(264): Show |
C | downstream_gene_variant | MODIFIER | NA18945.hp1 NA18978.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0003 | 2 | 426 | 0.0047 | -271 | c.*65 others(11): Show |
C11orf21 | ENSG00000110665.12 | transcript | ENST00000381153.8 | protein_coding | 4461 | chr11 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1116074 | GGATGATG others(264): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02559.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0002g0318a0001c0001t0005g0308a0001c0001t0005g0314others(15): Show | 18 | 326 | 0.0552 | -271 | c.129 others(19): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| CABLES2_chr20_62383634_62412285 | 62385057 | CCGCACCA others(264): Show |
C | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0215 | 1 | 400 | 0.0025 | -271 | c.*56 others(11): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 3576 | chr20 | TogoVar | ||||||
| CANT1_chr17_78986716_79014764 | 79004624 | AGAGGGGA others(264): Show |
A | intron_variant | MODIFIER | HG03130.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0149a0001c0001t0004g0252 | 2 | 394 | 0.0051 | -271 | c.-14 others(19): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| CCDC127_chr5_191868_223153 | 212428 | TGGACAGC others(264): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0163 | a0001c0001t0163g0111 | 1 | 406 | 0.0025 | -271 | c.121 others(17): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
| CCDC183_chr9_136791338_136812741 | 136802943 | CGGGGGCC others(264): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0093 | 1 | 398 | 0.0025 | -271 | c.666 others(15): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CDK12_chr17_39456486_39539544 | 39498937 | TTCTTTCT others(264): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01943.hp2 HG02071.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0045 | a0001c0001t0001g0122a0001c0001t0001g0166a0001c0001t0001g0197others(6): Show | 9 | 260 | 0.0346 | -271 | c.242 others(19): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| COP1_chr1_175939831_176212286 | 176132538 | AATATATA others(264): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01167.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0001 | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0001t0001g0138others(7): Show | 10 | 300 | 0.0333 | -271 | c.968 others(17): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 8/19 | chr1 | TogoVar | ||||||
| CPNE7_chr16_89570758_89602246 | 89587846 | CCCCCGTG others(264): Show |
C | intron_variant | MODIFIER | HG02818.hp2 NA19065.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0003a0001c0007t0006 | a0001c0002t0003g0313a0001c0007t0006g0157 | 2 | 348 | 0.0058 | -271 | c.927 others(15): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CYP19A1_chr15_51203057_51343596 | 51293979 | CCCGTCTG others(264): Show |
C | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0190 | 1 | 306 | 0.0033 | -271 | c.-39 others(19): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132149048 | CACACCAC others(264): Show |
C | upstream_gene_variant | MODIFIER | HG04184.hp1 NA18940.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001a0003c0003t0001g0043 | 2 | 334 | 0.0060 | -271 | c.-50 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4730 | chr12 | TogoVar | ||||||
| DGKI_chr7_137376037_137851974 | 137558497 | CAAACTCC others(264): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01243.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0002others(32): Show | a0001c0001t0002g0013a0001c0001t0002g0049a0001c0001t0007g0010others(41): Show | 44 | 94 | 0.4681 | -271 | c.194 others(19): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 19/32 | chr7 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2296715 | AGACCCCA others(264): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0005a0005c0008others(1): Show | a0001c0001t0001a0002c0005t0004a0002c0005t0008others(2): Show | a0001c0001t0001g0026a0002c0005t0004g0004a0002c0005t0008g0010others(2): Show | 5 | 50 | 0.1000 | -271 | c.287 others(17): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1319328 | CCGGGCGC others(264): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0000 | 1 | 406 | 0.0025 | -271 | c.*54 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4571 | chr6 | TogoVar | ||||||
| GRM7_chr3_6856115_7746533 | 7358358 | GAGATCAT others(264): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0070a0001c0001t0002g0025others(4): Show | 7 | 80 | 0.0875 | -271 | c.103 others(21): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
| HK2_chr2_74829127_74898359 | 74858235 | CAGAACCT others(264): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0004 | a0002c0004t0019 | a0002c0004t0019g0339 | 1 | 394 | 0.0025 | -271 | c.226 others(17): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1852582 | TAATTAAA others(264): Show |
T | intron_variant | MODIFIER | HG02056.hp2 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0191 | 2 | 264 | 0.0076 | -271 | c.199 others(21): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | ||||||
| MAP3K15_chrX_19355059_19520508 | 19452110 | GAAGAGAA others(264): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG02451.hp1 HG02723.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0011 | a0002c0002t0003g0039a0002c0002t0003g0143a0002c0002t0011g0008 | 3 | 163 | 0.0184 | -271 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237544129 | AGGGGACA others(264): Show |
A | intron_variant | MODIFIER | NA18941.hp1 NA18980.hp1 |
a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0010a0005c0004t0001g0012 | 2 | 286 | 0.0070 | -271 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MLPH_chr2_237482251_237560322 | 237544876 | GGACAGTG others(264): Show |
G | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0048 | a0001c0048t0001 | a0001c0048t0001g0025 | 1 | 286 | 0.0035 | -271 | c.154 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| OTUD7A_chr15_31470398_31875673 | 31510540 | TGTATATC others(264): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0148a0001c0001t0012g0006a0001c0001t0012g0007others(1): Show | 4 | 244 | 0.0164 | -271 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| RAN_chr12_130867066_130882678 | 130882239 | ACTCCTCC others(264): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 HG03130.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0026 | 6 | 426 | 0.0141 | -271 | c.*63 others(11): Show |
RAN | ENSG00000132341.12 | transcript | ENST00000543796.6 | protein_coding | 4562 | chr12 | TogoVar | ||||||
| RPS21_chr20_62382103_62393520 | 62385057 | CCGCACCA others(264): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 412 | 0.0024 | -271 | c.-20 others(11): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 2045 | chr20 | TogoVar | ||||||
| RSU1_chr10_16585611_16822424 | 16645873 | TATATGTG others(264): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0012a0001c0001t0013others(4): Show | a0001c0001t0004g0035a0001c0001t0004g0074a0001c0001t0012g0054others(7): Show | 10 | 190 | 0.0526 | -271 | c.731 others(19): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 401947 | CGACCCCC others(264): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 242 | 0.0041 | -271 | c.*36 others(11): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3768 | chr11 | TogoVar | ||||||
| SORCS3_chr10_104636290_105270242 | 105091216 | CTTCCCTC others(264): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 134 | 0.0075 | -271 | c.109 others(19): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| STX8_chr17_9245471_9580820 | 9429800 | AACATATA others(264): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 188 | 0.0053 | -271 | c.542 others(19): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
| UNC5A_chr5_176805559_176885898 | 176871026 | CACACCAC others(264): Show |
C | intron_variant | MODIFIER | HG02451.hp1 NA19030.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0078a0001c0004t0002g0233 | 2 | 268 | 0.0075 | -271 | c.886 others(15): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ZDHHC11_chr5_790605_855986 | 846834 | CACCGTGC others(264): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG03471.hp1 |
a0010 | a0010c0012 | a0010c0012t0014 | a0010c0012t0014g0024a0010c0012t0014g0025 | 2 | 312 | 0.0064 | -271 | c.503 others(15): Show |
ZDHHC11 | ENSG00000188818.13 | transcript | ENST00000283441.13 | protein_coding | 3/12 | chr5 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1143120 | GCAGCTCG others(263): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0118 | 1 | 337 | 0.0030 | -270 | c.62- others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ACSBG2_chr19_6130667_6198091 | 6152281 | TTTTTTTT others(263): Show |
T | intron_variant | MODIFIER | HG01069.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0048 | 1 | 262 | 0.0038 | -270 | c.386 others(15): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ADAP1_chr7_892900_959680 | 933949 | ACCGGGGT others(263): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 14 | 0.0714 | -270 | c.213 others(17): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
| AGO2_chr8_140515156_140640633 | 140623014 | GGGGTCTC others(263): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00642.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(24): Show | a0001c0001t0001g0129a0001c0001t0001g0130a0001c0001t0001g0306others(32): Show | 35 | 338 | 0.1036 | -270 | c.22+ others(17): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130049308 | TGGGGGGC others(263): Show |
T | downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 308 | 0.0033 | -270 | c.*51 others(11): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2795 | chr8 | TogoVar |