| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SCNN1D_chr1_1275436_1297025 | 1288255 | TCCCGTGT others(1866): Show |
T | intron_variant | MODIFIER | HG02723.hp2 NA19056.hp2 |
a0001a0010 | a0001c0001a0010c0035 | a0001c0001t0005a0010c0035t0009 | a0001c0001t0005g0218 a0010c0035t0009g0278 |
2 | 266 | 0.0075 | -1873 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ANKRD36_chr2_97108153_97269521 | 97204663 | ACTGTAGG others(1865): Show |
A | exon_loss_variant | HIGH | HG03927.hp2 | a0029 | a0029c0049 | a0029c0049t0003 | a0029c0049t0003g0043 | 1 | 210 | 0.0048 | -1872 | c.306 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 51/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560546 | GCCCTGAG others(1865): Show |
G | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 164 | 0.0061 | -1872 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288275 | CCCCGAGT others(1864): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0206 | 1 | 255 | 0.0039 | -1871 | c.*34 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4115 | chr1 | TogoVar | |||||||
| SCNN1D_chr1_1275436_1297025 | 1288275 | CCCCGAGT others(1864): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0012 | a0012c0023 | a0012c0023t0001 | a0012c0023t0001g0264 | 1 | 247 | 0.0040 | -1871 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KRTAP4-9_chr17_41100389_41111488 | 41109619 | AACTAACC others(1862): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 424 | 0.0024 | -1869 | c.*35 others(11): Show |
KRTAP4-9 | ENSG00000212722.9 | transcript | ENST00000391415.2 | protein_coding | 3132 | chr17 | TogoVar | |||||||
| KLB_chr4_39401930_39456533 | 39422871 | CCTGCCTC others(1860): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0012 | a0001c0002t0004g0104 a0001c0002t0004g0105 a0001c0002t0004g0106 others(3): Show |
6 | 378 | 0.0159 | -1867 | c.826 others(18): Show |
KLB | ENSG00000134962.7 | transcript | ENST00000257408.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ANKRD36_chr2_97108153_97269521 | 97207905 | TTTATTAT others(1859): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00423.hp1 HG01099.hp2 others(46): Show |
a0003a0005a0011others(5): Show | a0003c0003a0003c0030a0005c0005others(8): Show | a0003c0003t0001a0003c0030t0001a0005c0005t0003others(9): Show | a0003c0003t0001g0003 a0003c0003t0001g0020 a0003c0003t0001g0034 others(44): Show |
49 | 210 | 0.2333 | -1866 | c.319 others(15): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 54/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1370590 | GGTCTCCA others(1859): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 108 | 0.0093 | -1866 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1372962 | CCTGCCCA others(1858): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 113 | 0.0088 | -1865 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1370189 | CCTCCAGC others(1856): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 113 | 0.0088 | -1863 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1373856 | CATCTCCA others(1856): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG02451.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0080 a0001c0001t0006g0087 a0001c0001t0006g0088 others(1): Show |
4 | 112 | 0.0357 | -1863 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | chrX | TogoVar | |||||||
| AK3_chr9_4704556_4746202 | 4734954 | CAAAAGAG others(1855): Show |
C | intron_variant | MODIFIER | HG02615.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0067 | a0001c0001t0011g0036 a0001c0001t0067g0184 |
2 | 460 | 0.0043 | -1862 | c.151 others(17): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
| IL3RA_chrX_1331785_1387689 | 1369881 | AGGGAGAA others(1855): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0093 | 1 | 113 | 0.0088 | -1862 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| PCSK5_chr9_75885673_76367975 | 76304876 | CATTTTAG others(1855): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01074.hp1 others(31): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0080others(21): Show | a0001c0001t0005a0001c0001t0008a0001c0004t0006others(27): Show | a0001c0001t0005g0025 a0001c0001t0005g0047 a0001c0001t0008g0068 others(31): Show |
34 | 164 | 0.2073 | -1862 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1369894 | CGTCTCCA others(1854): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp1 others(29): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0100 others(29): Show |
32 | 110 | 0.2909 | -1861 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| MUC22_chr6_31005474_31040402 | 31027084 | GGGCTCTG others(1853): Show |
G | disruptive_inframe_deletion | MODERATE | NA18942.hp1 NA18945.hp1 NA18955.hp1 others(13): Show |
a0008 | a0008c0008 | a0008c0008t0004 | a0008c0008t0004g0006 a0008c0008t0004g0145 a0008c0008t0004g0146 others(3): Show |
16 | 456 | 0.0351 | -1860 | c.166 others(9): Show |
p.Met others(14): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1901/6019 | 1668/5322 | 556/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
| ATP2C2_chr16_84363538_84469187 | 84396340 | ATTTGAGA others(1849): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03195.hp2 |
a0001a0004 | a0001c0041a0004c0027 | a0001c0041t0005a0004c0027t0001 | a0001c0041t0005g0210 a0004c0027t0001g0105 |
2 | 430 | 0.0047 | -1856 | c.100 others(16): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CPPED1_chr16_12654799_12808887 | 12696707 | TGCTGGGA others(1847): Show |
T | intron_variant | MODIFIER | HG02602.hp1 HG03704.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0003c0003t0019 | a0001c0001t0005g0175 a0003c0003t0019g0214 |
2 | 288 | 0.0069 | -1854 | c.715 others(17): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
| EFHD1_chr2_232628604_232687776 | 232648386 | TGGGAGTG others(1847): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0039 | 1 | 380 | 0.0026 | -1854 | c.302 others(19): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805559 | CTCCCCCC others(1846): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp1 NA18971.hp1 NA19007.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0001 | a0002c0002t0002g0126 a0003c0003t0001g0019 a0003c0003t0001g0071 others(1): Show |
4 | 296 | 0.0135 | -1853 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1273 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805554 | CCACCCTC others(1846): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0114 | 1 | 318 | 0.0031 | -1853 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3638 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805559 | CTCCCCCC others(1846): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 NA18971.hp2 NA19007.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0008 | a0001c0001t0001a0001c0004t0001a0002c0008t0002 | a0001c0001t0001g0001 a0001c0004t0001g0006 a0001c0004t0001g0104 others(1): Show |
4 | 294 | 0.0136 | -1853 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3633 | chr2 | TogoVar | |||||||
| ABR_chr17_998519_1184981 | 1117495 | TCCCCAGC others(1845): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0247 | 1 | 313 | 0.0032 | -1852 | c.246 others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1235668 | CCCTCCCG others(1845): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0032 | 1 | 81 | 0.0123 | -1852 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805673 | TCCCCCCT others(1845): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0205 | 1 | 293 | 0.0034 | -1852 | c.*15 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1387 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805673 | TCCCCCCT others(1845): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 295 | 0.0034 | -1852 | c.-36 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3519 | chr2 | TogoVar | |||||||
| CELF1_chr11_47460937_47558132 | 47504552 | ATGGGCAA others(1843): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01099.hp2 HG01257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 others(3): Show |
6 | 338 | 0.0178 | -1850 | c.-15 others(19): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
| COTL1_chr16_84560596_84623078 | 84561109 | TGGGAGGC others(1842): Show |
T | downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 437 | 0.0023 | -1849 | c.*38 others(11): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 4486 | chr16 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805563 | CCCCTCAG others(1842): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 292 | 0.0034 | -1849 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1277 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805563 | CCCCTCAG others(1842): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0013 | 1 | 297 | 0.0034 | -1849 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3629 | chr2 | TogoVar | |||||||
| COL23A1_chr5_178232618_178595393 | 178394846 | AGCATTCG others(1841): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02486.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0013others(2): Show | a0001c0001t0003a0001c0001t0005a0002c0002t0009others(4): Show | a0001c0001t0003g0070 a0001c0001t0003g0182 a0001c0001t0003g0215 others(7): Show |
10 | 195 | 0.0513 | -1848 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
| MCF2L_chr13_112964214_113104742 | 113067208 | GCGGAGGC others(1841): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0001 | 1 | 114 | 0.0088 | -1848 | c.881 others(16): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| FKBP3_chr14_45110599_45139481 | 45126264 | TGGATCAC others(1840): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 NA18954.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0123 |
7 | 302 | 0.0232 | -1847 | c.318 others(17): Show |
FKBP3 | ENSG00000100442.11 | transcript | ENST00000396062.4 | protein_coding | 3/6 | chr14 | TogoVar | |||||||
| SHLD1_chr20_5745401_5869395 | 5808909 | TATTATCG others(1839): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 326 | 0.0031 | -1846 | c.178 others(19): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| RGL2_chr6_33286654_33303942 | 33301384 | GCCAACAT others(1838): Show |
G | upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0008 | 2 | 392 | 0.0051 | -1845 | c.-44 others(11): Show |
RGL2 | ENSG00000237441.10 | transcript | ENST00000497454.6 | protein_coding | 2443 | chr6 | TogoVar | |||||||
| TAPBP_chr6_33294694_33319078 | 33301384 | GCCAACAT others(1838): Show |
G | stop_lost others(2): Show |
HIGH | HG02896.hp2 HG02897.hp1 |
a0004 | a0004c0008 | a0004c0008t0015 | a0004c0008t0015g0032 | 2 | 384 | 0.0052 | -1845 | c.133 others(13): Show |
TAPBP | ENSG00000231925.14 | transcript | ENST00000434618.7 | protein_coding | 8/8 | 1759/3450 | 1336/1347 | 446/448 | chr6 | TogoVar | ||||
| CMBL_chr5_10272595_10312902 | 10273117 | GGGGATTA others(1837): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp1 others(106): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0010 a0001c0001t0001g0169 a0001c0001t0003g0020 others(83): Show |
109 | 348 | 0.3132 | -1844 | c.*54 others(11): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 4477 | chr5 | TogoVar | |||||||
| B3GNTL1_chr17_82937149_83056770 | 82974916 | CCAGGGCC others(1836): Show |
C | intron_variant | MODIFIER | HG03453.hp2 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0135 a0001c0002t0016g0136 |
2 | 254 | 0.0079 | -1843 | c.460 others(18): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
| BRSK2_chr11_1384934_1467689 | 1429926 | CGGTCTGG others(1836): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0259 | 1 | 340 | 0.0029 | -1843 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| NUBPL_chr14_31556404_31866224 | 31745533 | ATCCACCC others(1836): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0021a0001c0003t0027 | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 others(3): Show |
6 | 266 | 0.0226 | -1843 | c.514 others(19): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| POLR2F_chr22_37948699_37974312 | 37960945 | ATCACGCC others(1835): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 402 | 0.0025 | -1842 | c.221 others(17): Show |
POLR2F | ENSG00000100142.16 | transcript | ENST00000442738.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| FBXL17_chr5_107854035_108387098 | 108212084 | TCAATGAT others(1834): Show |
T | intron_variant | MODIFIER | HG00558.hp1 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0133 a0001c0001t0004g0131 |
2 | 242 | 0.0083 | -1841 | c.161 others(21): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
| WDPCP_chr2_63114559_63593477 | 63463864 | TAGAGAGA others(1834): Show |
T | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 214 | 0.0047 | -1841 | c.384 others(19): Show |
WDPCP | ENSG00000143951.16 | transcript | ENST00000272321.12 | protein_coding | 6/17 | chr2 | TogoVar | |||||||
| YIPF1_chr1_53846733_53894797 | 53885842 | AGAAAAAG others(1833): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 a0001c0001t0003g0230 |
2 | 358 | 0.0056 | -1840 | c.31+ others(15): Show |
YIPF1 | ENSG00000058799.15 | transcript | ENST00000072644.7 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
| ZNF846_chr19_9750357_9773738 | 9759318 | TGGGCTGG others(1833): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01952.hp2 HG02055.hp1 HG02451.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0012 a0002c0002t0004g0098 a0002c0002t0004g0099 others(1): Show |
7 | 370 | 0.0189 | -1840 | c.229 others(15): Show |
ZNF846 | ENSG00000196605.7 | transcript | ENST00000397902.7 | protein_coding | 5/6 | chr19 | TogoVar | |||||||
| PPP1R15B_chr1_204398381_204416817 | 204413660 | TGAGACGA others(1832): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG02004.hp2 others(20): Show |
a0001a0004a0012 | a0001c0001a0001c0002a0004c0009others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0013others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0002t0002g0002 others(3): Show |
23 | 373 | 0.0617 | -1839 | c.-40 others(11): Show |
PPP1R15B | ENSG00000158615.10 | transcript | ENST00000367188.5 | protein_coding | 1844 | chr1 | TogoVar | |||||||
| PPP1R15B_chr1_204398381_204416817 | 204413660 | TGAGACGA others(1831): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01346.hp2 HG01952.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0017 | a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0034 others(1): Show |
18 | 368 | 0.0489 | -1838 | c.-40 others(11): Show |
PPP1R15B | ENSG00000158615.10 | transcript | ENST00000367188.5 | protein_coding | 1844 | chr1 | TogoVar | |||||||
| FAM90A10_chr8_7763977_7776988 | 7764345 | GCAGGTGG others(1830): Show |
G | upstream_gene_variant | MODIFIER | HG01258.hp2 NA18982.hp2 |
a0009a0015 | a0009c0022a0015c0008 | a0009c0022t0001a0015c0008t0001 | a0009c0022t0001g0009 a0015c0008t0001g0001 |
2 | 126 | 0.0159 | -1837 | c.-46 others(11): Show |
FAM90A10 | ENSG00000285950.1 | transcript | ENST00000533716.2 | protein_coding | 4631 | chr8 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79919593 | CCGAGGGA others(1830): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03471.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015a0001c0001t0044 | a0001c0001t0014g0315 a0001c0001t0015g0273 a0001c0001t0044g0313 |
3 | 350 | 0.0086 | -1837 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar |