| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,423 | T→C | 15.8% | K91K (AAA→AAG) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,423 | 0 | T | C | 15.8% | 274.4 / 39.2 | 120 | K91K (AAA→AAG) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base T (59/42); new base C (14/5); total (73/47) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.06e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.72e-01 | |||||||||||
Only 100 of 128 total aligned reads displayed.
GACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCA > Exported/2919354‑2919492 | gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCtt < 1:5474177/71‑1 (MQ=255)gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCtt < 1:2301822/71‑1 (MQ=255) aaTCTCCTGACCATAGCCGCGGTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa > 1:1903331/1‑71 (MQ=255) cTGACCATAGCCGCTATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:4619687/1‑71 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc > 1:1537469/1‑67 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2821532/1‑69 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:5649331/1‑69 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:2343272/1‑71 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGAGTCTTTAATCGAct > 1:772278/1‑71 (MQ=255) gACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTAAATCGActct > 1:2658552/1‑71 (MQ=255) ccATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2899789/1‑65 (MQ=255) aTAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt > 1:612447/1‑71 (MQ=255) tAGCGGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt < 1:1430247/70‑1 (MQ=255) tAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt > 1:3135233/1‑70 (MQ=255) gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:1259896/1‑60 (MQ=255) gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2471840/1‑60 (MQ=255) accGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc > 1:114803/2‑69 (MQ=255) ccGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc > 1:3837458/1‑68 (MQ=255) ccGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc > 1:118750/1‑68 (MQ=255) gcgATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCaa < 1:1430620/71‑1 (MQ=255) cgATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGAct > 1:2446098/1‑58 (MQ=255) cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt < 1:3285013/61‑1 (MQ=255) cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt < 1:1306294/61‑1 (MQ=255) cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAAt < 1:705228/71‑1 (MQ=255) tACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTaa > 1:134308/1‑49 (MQ=255) tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc < 1:4917832/51‑1 (MQ=255) tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt < 1:548513/70‑1 (MQ=255) tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt < 1:5450936/70‑1 (MQ=255) aCTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg > 1:5162771/1‑71 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2246479/1‑51 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:3373813/1‑51 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2172264/1‑51 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg < 1:63655/70‑1 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg < 1:3782015/70‑1 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg < 1:925971/70‑1 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGc > 1:5097980/1‑71 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGc > 1:5073876/1‑71 (MQ=255) gAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTg > 1:761281/1‑71 (MQ=255) aTACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGa < 1:4920252/57‑1 (MQ=255) tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt < 1:1953064/51‑1 (MQ=255) tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt > 1:1709686/1‑63 (MQ=255) tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt > 1:3357756/1‑63 (MQ=255) aCCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt < 1:52630/50‑1 (MQ=255) cGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt < 1:2251261/71‑1 (MQ=255) cGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt < 1:1396736/71‑1 (MQ=255) cGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCtc < 1:1665900/71‑2 (MQ=255) cGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCtc > 1:5537000/1‑70 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg > 1:5531244/1‑71 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg > 1:4752809/1‑71 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg < 1:94395/71‑1 (MQ=255) tCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt < 1:1413106/46‑1 (MQ=255) tCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTg < 1:632779/59‑1 (MQ=255) tCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCgg > 1:840455/1‑71 (MQ=255) aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAAt > 1:2011524/1‑36 (MQ=255) aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTa > 1:3644727/1‑46 (MQ=255) aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGc > 1:3595857/1‑71 (MQ=255) aTACATGCGACCAAGCACGCGAGCAGTGTCTTTAATCGACTCTTTa > 1:2356375/1‑46 (MQ=255) aTACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCggcc > 1:3962020/1‑69 (MQ=255) tACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc < 1:1540406/36‑1 (MQ=255) tACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa < 1:952870/38‑1 (MQ=255) tACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc > 1:1830407/1‑71 (MQ=255) aCATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:4259163/1‑70 (MQ=255) aCATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc > 1:5546291/1‑70 (MQ=255) cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:2368551/1‑38 (MQ=255) cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:5113304/1‑38 (MQ=255) cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:4151673/1‑69 (MQ=255) cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:5194333/1‑69 (MQ=255) cATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGcccta < 1:2485555/71‑3 (MQ=255) aTGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTg > 1:4953611/1‑53 (MQ=255) aTGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:4380865/1‑68 (MQ=255) tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCaa < 1:3244587/48‑1 (MQ=255) tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:3635020/1‑67 (MQ=255) tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:3080077/1‑67 (MQ=255) gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg > 1:1002154/1‑52 (MQ=255) gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCgaga > 1:4028116/1‑70 (MQ=255) cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt < 1:867675/70‑1 (MQ=255) cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTa < 1:4491596/71‑1 (MQ=255) cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTa < 1:3437969/71‑1 (MQ=255) aaGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa > 1:3226887/1‑71 (MQ=255) aGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt < 1:2231518/54‑1 (MQ=255) aGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa < 1:4695923/70‑1 (MQ=255) gCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATaa > 1:5623959/1‑65 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg > 1:1145620/1‑43 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg > 1:4376206/1‑43 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc < 1:4417167/57‑1 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt > 1:2871870/1‑66 (MQ=255) cACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc < 1:4518990/71‑1 (MQ=255) aCGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgc < 1:5614383/70‑1 (MQ=255) cggtgtCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGccc < 1:1362944/69‑1 (MQ=255) aGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCt < 1:4949510/71‑1 (MQ=255) gtgtCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTg > 1:3233839/1‑71 (MQ=255) gtgtCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTg > 1:2540900/1‑71 (MQ=255) gtCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGc < 1:3099466/38‑1 (MQ=255) tCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATa > 1:450414/1‑50 (MQ=255) tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATa > 1:40336/1‑48 (MQ=255) tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTatc > 1:4138938/1‑52 (MQ=255) tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAcgcg < 1:1259835/57‑1 (MQ=255) tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAAc > 1:3718214/1‑54 (MQ=255) tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGa > 1:523689/1‑58 (MQ=255) tttAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa > 1:5383000/1‑70 (MQ=255) | GACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCA > Exported/2919354‑2919492 |
| 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: ‑ |