| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,159 | A→C | 9.5% | L179L (CTT→CTG) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,159 | 0 | A | C | 9.5% | 202.2 / 15.8 | 84 | L179L (CTT→CTG) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base A (39/37); new base C (6/2); total (45/39) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.75e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.61e-01 | |||||||||||
CCAGCGCAGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAT > Exported/2919101‑2919227 | ccAGCGCAGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAg < 1:3592345/69‑1 (MQ=255) gcgcAGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTc > 1:3248588/1‑70 (MQ=255) gcAGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAg < 1:5087372/71‑1 (MQ=255) gcAGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAg > 1:5111592/1‑71 (MQ=255) cAGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGc < 1:411781/71‑1 (MQ=255) aGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGc < 1:337225/70‑1 (MQ=255) cTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATc < 1:4057083/71‑1 (MQ=255) cTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATc < 1:4592968/71‑1 (MQ=255) tCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg > 1:1020328/1‑70 (MQ=255) tCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg > 1:2610127/1‑70 (MQ=255) ccGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCtt > 1:2219886/1‑60 (MQ=255) ccGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg < 1:2083383/69‑1 (MQ=255) ccGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg < 1:2474691/69‑1 (MQ=255) ccGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg < 1:4499838/69‑1 (MQ=255) gCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTg > 1:1937484/1‑71 (MQ=255) aGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGcc > 1:2888603/1‑70 (MQ=255) cACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAg > 1:1474186/1‑41 (MQ=255) cACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAg > 1:1581774/1‑41 (MQ=255) cACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAg > 1:3705253/1‑41 (MQ=255) cACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAg > 1:1743647/1‑41 (MQ=255) cACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAg > 1:5630838/1‑41 (MQ=255) cACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAt < 1:5379770/71‑1 (MQ=255) cACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAt > 1:4871008/1‑71 (MQ=255) aCGCTTGTGGCGCGACCAGACGCAAATCCAGCCCGGTAAGCGCCGCAGCTTCGAGCATCGatt > 1:4609110/1‑61 (MQ=255) aCGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGa < 1:3764684/54‑1 (MQ=255) aCGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtg > 1:828795/1‑71 (MQ=255) aCGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtg > 1:5530071/1‑71 (MQ=255) gCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgtt < 1:2760971/71‑1 (MQ=255) cTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttg > 1:4587517/1‑71 (MQ=255) cTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttg > 1:2830975/1‑71 (MQ=255) cTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttg < 1:2172423/71‑1 (MQ=255) cTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttg < 1:5221718/71‑1 (MQ=255) cTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttg > 1:5289647/1‑71 (MQ=255) ttGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt > 1:1687036/1‑71 (MQ=255) gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt < 1:119926/69‑1 (MQ=255) gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt < 1:3077901/69‑1 (MQ=255) gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt < 1:4248099/69‑1 (MQ=255) gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt < 1:1535094/69‑1 (MQ=255) gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAt > 1:3904542/1‑64 (MQ=255) gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATgttgtt < 1:4070067/70‑1 (MQ=255) gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTa > 1:4052399/1‑71 (MQ=255) gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTa > 1:4634735/1‑71 (MQ=255) tgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTa < 1:2505141/70‑1 (MQ=255) gcgcGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAcgc > 1:2493851/1‑71 (MQ=255) gcgcGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAc > 1:4584176/1‑69 (MQ=255) cgcgACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa > 1:755987/1‑52 (MQ=255) cgcgACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa > 1:373128/1‑52 (MQ=255) cgcgACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa > 1:3877262/1‑52 (MQ=255) cgcgACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa > 1:2428705/1‑52 (MQ=255) aacAGGCGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATc < 1:5358180/69‑1 (MQ=255) ccAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCa > 1:2192899/1‑71 (MQ=255) ccAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCa < 1:4247850/71‑1 (MQ=255) acAGGCGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATgttgttg < 1:3921175/61‑2 (MQ=255) aggcGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGcc > 1:145898/4‑71 (MQ=255) aggcGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGcc > 1:4022555/4‑71 (MQ=255) aGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg < 1:4424143/43‑1 (MQ=255) aGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg < 1:2946224/43‑1 (MQ=255) gACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCg < 1:3100102/42‑1 (MQ=255) gCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAAtt > 1:2304925/1‑43 (MQ=255) agaTCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGcg > 1:5596632/3‑68 (MQ=255) aaaTCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCa > 1:1247361/1‑69 (MQ=255) tCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGAc > 1:5153413/1‑71 (MQ=255) ccAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATgttgttgc > 1:4820228/1‑49 (MQ=21) ccAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATgttgttg > 1:3076390/1‑49 (MQ=25) ccAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGAc > 1:4885901/1‑70 (MQ=255) ccAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa > 1:1031895/1‑35 (MQ=255) ccAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa > 1:1204862/1‑35 (MQ=255) ccAGACCGGTAAGCGCCGCAGCTTCGAGCATCGaa > 1:2162195/1‑35 (MQ=255) ccAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgtt < 1:49549/46‑1 (MQ=255) cAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGAcc < 1:445215/70‑1 (MQ=255) cAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCa < 1:4250852/71‑1 (MQ=255) cAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCa < 1:4257598/71‑1 (MQ=255) aGACCGGTAAGCGCCGCAGCTTCGAGGATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg < 1:2021795/66‑1 (MQ=255) aGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg < 1:1841464/66‑1 (MQ=255) aGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAg > 1:2108848/1‑71 (MQ=255) gACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAc < 1:4521722/48‑1 (MQ=255) aCCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCg < 1:4957157/71‑1 (MQ=255) ccGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt > 1:562637/1‑43 (MQ=255) ccGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCg < 1:4517453/70‑1 (MQ=255) ggTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCa < 1:1348139/71‑1 (MQ=255) gTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCAtgttgt < 1:148470/40‑1 (MQ=255) gTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAt > 1:3223895/1‑71 (MQ=255) tAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAcg < 1:2150774/43‑1 (MQ=255) tAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAcg < 1:3545084/43‑1 (MQ=255) | CCAGCGCAGCTTCCGGCCAGCACGCTTGTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAT > Exported/2919101‑2919227 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |