| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 872,042 | C→T | 5.2% | H681Y (CAT→TAT) | topA → | DNA topoisomerase I, omega subunit |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 872,042 | 0 | C | T | 5.2% | 324.8 / 5.3 | 96 | H681Y (CAT→TAT) | topA | DNA topoisomerase I, omega subunit |
| Reads supporting (aligned to +/- strand): ref base C (37/54); new base T (2/3); total (39/57) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.90e-01 | |||||||||||
AAAACGTCGTTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCGCATTAAAGGT > Exported/871975‑872110 | aaaaCGTCGTTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATg > 1:4514087/1‑71 (MQ=255)aaaaCGTCGTTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATg > 1:94520/1‑71 (MQ=255) aaaCGTCGTTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGt > 1:2801845/1‑71 (MQ=255) aaCGTCGTTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTc > 1:1019438/1‑71 (MQ=255) aaCGTCGTTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTc > 1:3390272/1‑71 (MQ=255) aaCGTCGTTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTc > 1:2904774/1‑71 (MQ=255) aaCGTCGTTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATACGAAACGTAAGTTGCATGTc > 1:2270579/1‑71 (MQ=255) cgtcgtTGCCCGTAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCtg < 1:574921/71‑1 (MQ=255) cgtcgtTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCtg > 1:4346688/1‑71 (MQ=255) cgtcgtTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCtg < 1:2042120/71‑1 (MQ=255) cgtTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTgg > 1:3576362/1‑71 (MQ=255) cgtTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTgg > 1:1268001/1‑71 (MQ=255) gtTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTgg < 1:4386911/70‑1 (MQ=255) gtTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTgg < 1:948688/70‑1 (MQ=255) gtTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTgg < 1:1339423/70‑1 (MQ=255) gtTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGt < 1:2082564/71‑1 (MQ=255) ttGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCAt < 1:671261/61‑1 (MQ=255) ttGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCtg < 1:4209022/66‑1 (MQ=255) tGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGtaa > 1:4319708/1‑71 (MQ=255) gCCCGAAATGCGGCACGGCGATGGCCAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGtaa > 1:424891/1‑70 (MQ=255) gCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGtaa > 1:4000535/1‑70 (MQ=255) cccGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGtaata < 1:2805693/71‑1 (MQ=255) cccGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGtaata < 1:2745180/71‑1 (MQ=255) cccGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGt < 1:447037/67‑1 (MQ=255) cccGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGt < 1:2760845/67‑1 (MQ=255) cccGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGt < 1:1481710/67‑1 (MQ=255) ccGAAATGCGGCACGGCGATGTACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGtaataa < 1:1825204/71‑1 (MQ=255) ccGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCa > 1:2956229/1‑56 (MQ=255) ccGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCAt < 1:3880160/57‑1 (MQ=255) ccGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCAt < 1:2159030/57‑1 (MQ=255) ccGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCAt < 1:2205293/57‑1 (MQ=255) ccGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCAt < 1:3070240/57‑1 (MQ=255) ccGAAATGCGGCACGCCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCAt < 1:2247090/57‑1 (MQ=255) cGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCAt < 1:26664/56‑1 (MQ=255) cGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCAt < 1:524585/56‑1 (MQ=255) gAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAAcc < 1:38852/71‑1 (MQ=255) taaTGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTTGTAATAAccc < 1:2904405/70‑1 (MQ=255) aaTGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCa < 1:2281434/71‑1 (MQ=255) aTGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAAccc < 1:4503912/69‑1 (MQ=255) aTGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAAccc < 1:2261764/69‑1 (MQ=255) cGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGt < 1:963644/71‑1 (MQ=255) tGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTAc > 1:1940567/1‑71 (MQ=255) ggACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTAc > 1:4651009/1‑70 (MQ=255) ggACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTAc > 1:2971782/1‑70 (MQ=255) gACAGCTATCTCATCGATCCGAAACGTAAGTTGCAt > 1:3817387/1‑36 (MQ=255) aCAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACgag < 1:3382522/71‑1 (MQ=255) cAGCTATCTCATCGATGCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACgag < 1:307243/70‑1 (MQ=255) cTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCa < 1:1994103/49‑1 (MQ=255) cTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCa < 1:4628255/49‑1 (MQ=255) cTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCa < 1:776652/49‑1 (MQ=255) tATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCg > 1:262166/1‑70 (MQ=255) tATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCg > 1:2490986/1‑70 (MQ=255) tctcATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGaa < 1:985831/70‑1 (MQ=255) ctcATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCa < 1:1681524/45‑1 (MQ=255) tcATCGATCCGAAACGTAAGTTGTATGTCTGTGGTAATAACCCAACCTGCGACGGTTAc > 1:1321222/1‑59 (MQ=255) tcATCGATCCGAAACGTAAGTTGTATGTCTGTGGTAATAACCCAACCTGCGACGGTTAc > 1:1731388/1‑59 (MQ=255) tcATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTAc > 1:995084/1‑59 (MQ=255) aTCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTAc < 1:4650339/57‑1 (MQ=255) aTCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAggg > 1:159801/1‑71 (MQ=255) aTCCGAAACGTAAGTTGCATGTCTGTGGTAATAAcc < 1:2160213/36‑1 (MQ=255) aTCCGAAACGTAAGTTGCATGTCTGTGGTAATAAcc < 1:490468/36‑1 (MQ=255) aTCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCa < 1:2058935/38‑1 (MQ=255) aTCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCa < 1:1946466/38‑1 (MQ=255) aTCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCa < 1:545090/38‑1 (MQ=255) aTCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCa < 1:1808814/38‑1 (MQ=255) aTCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCa < 1:1101094/38‑1 (MQ=255) aTCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCg < 1:3842521/60‑1 (MQ=255) aTCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCg < 1:2883495/60‑1 (MQ=255) aTCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCg < 1:741493/60‑1 (MQ=255) ccGAAACGTAAGTTGCATGTCTGTGGTAATTACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAAtt > 1:2492165/1‑71 (MQ=255) ccGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAAtt > 1:2820885/1‑71 (MQ=255) ccGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAAtt > 1:2230817/1‑71 (MQ=255) ccGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAAt > 1:2497789/1‑70 (MQ=255) ccGAAAAGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAggg > 1:3277512/1‑65 (MQ=255) aagcGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTcc > 1:1994420/4‑70 (MQ=255) aaaCGTAAGTTGTATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCg < 1:4515913/71‑1 (MQ=255) aaaCGTAAGTTGTATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCg < 1:3992741/71‑1 (MQ=255) aaaCGTAAGTTGTATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCg < 1:3963991/71‑1 (MQ=255) aaaCGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCg < 1:1158749/71‑1 (MQ=255) tAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCGCATTa < 1:2114905/71‑1 (MQ=255) aaGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCGCAtt > 1:2110577/1‑69 (MQ=255) aaGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCGCATTa > 1:3068325/1‑70 (MQ=255) gTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGAt > 1:464405/1‑45 (MQ=255) gTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGAt > 1:1326901/1‑45 (MQ=255) ttGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCg < 1:3071364/46‑1 (MQ=255) ttGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCg < 1:3921790/46‑1 (MQ=255) ttGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCg < 1:1967849/46‑1 (MQ=255) gCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGaa > 1:267922/1‑46 (MQ=255) gCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGaa > 1:1510908/1‑46 (MQ=255) gCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAaga > 1:1381243/1‑48 (MQ=255) gCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAaga > 1:2595282/1‑48 (MQ=255) gCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCGCATTAAAGGt < 1:179721/70‑1 (MQ=255) gCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCGCATTAAAGGt < 1:1922468/70‑1 (MQ=255) gCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCGCATTAAAGGt > 1:760719/1‑70 (MQ=255) gCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCGCATTAAAGGt < 1:3553866/70‑1 (MQ=255) gCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCGCATTAAAGGt < 1:4678412/70‑1 (MQ=255) | AAAACGTCGTTGCCCGAAATGCGGCACGGCGATGGACAGCTATCTCATCGATCCGAAACGTAAGTTGCATGTCTGTGGTAATAACCCAACCTGCGACGGTTACGAGATCGAAGAGGGCGAATTCCGCATTAAAGGT > Exported/871975‑872110 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |