| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,405 | A→G | 17.7% | L97L (CTT→CTC) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,405 | 0 | A | G | 17.7% | 305.4 / 53.4 | 141 | L97L (CTT→CTC) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base A (72/44); new base G (16/9); total (88/53) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.87e-01 | |||||||||||
Only 100 of 143 total aligned reads displayed.
TATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAA > Exported/2919337‑2919475 | tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:4119429/1‑71 (MQ=255)tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:2112056/1‑71 (MQ=255)tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATAATGAATACCGTCATACATGCGACCAAg > 1:5192670/1‑71 (MQ=255) aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg < 1:133222/70‑1 (MQ=255) aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:1579204/1‑70 (MQ=255) tCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:5674224/1‑70 (MQ=255) ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcg > 1:832260/1‑71 (MQ=255) ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAc < 1:949554/70‑1 (MQ=255) cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTTAATGCCGTCATACATCCGCCCGAGAAc < 1:383035/69‑1 (MQ=255) cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAAc < 1:1889663/69‑1 (MQ=255) cAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAAcccgcg < 1:4149179/71‑3 (MQ=255) gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg > 1:1101333/1‑69 (MQ=255) gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg > 1:1392164/1‑69 (MQ=255) cgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgcgg > 1:1599345/2‑69 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg > 1:261763/1‑71 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt < 1:2736729/70‑1 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:137224/1‑58 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTc > 1:4688723/1‑71 (MQ=255) cGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:3830768/1‑57 (MQ=255) gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCa > 1:4847672/1‑64 (MQ=255) gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCtt < 1:5474177/71‑1 (MQ=255) gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCtt < 1:2301822/71‑1 (MQ=255) aaTCTCCTGACCATAGCCGCGGTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa > 1:1903331/1‑71 (MQ=255) aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa < 1:1606965/71‑1 (MQ=255) cTGACCATAGCCGCTATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:4619687/1‑71 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc > 1:1537469/1‑67 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc < 1:1424075/67‑1 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:5649331/1‑69 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:2343272/1‑71 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGAGTCTTTAATCGAct > 1:772278/1‑71 (MQ=255) tGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa < 1:629304/68‑1 (MQ=255) tGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGActc > 1:5559379/1‑71 (MQ=255) gACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTAAATCGActct > 1:2658552/1‑71 (MQ=255) aCCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:1658580/1‑44 (MQ=255) aCCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:4250198/1‑44 (MQ=255) aCCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt > 1:2735544/1‑56 (MQ=255) ccATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2899789/1‑65 (MQ=255) tAGCCGCGATACTGAATACCGTCATACATGCGACCAAg < 1:3016552/38‑1 (MQ=255) tAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt > 1:3135233/1‑70 (MQ=255) gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc > 1:4397023/1‑58 (MQ=255) gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2471840/1‑60 (MQ=255) gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:1259896/1‑60 (MQ=255) accGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATgcc > 1:114803/2‑69 (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) cgATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAAt < 1:705228/71‑1 (MQ=255) aTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc > 1:4883388/1‑52 (MQ=255) tACTGAATGCCGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTaa > 1:134308/1‑49 (MQ=255) tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg < 1:1824800/42‑1 (MQ=255) tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc < 1:4917832/51‑1 (MQ=255) tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc < 1:75454/51‑1 (MQ=255) tACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt < 1:548513/70‑1 (MQ=255) aCTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg > 1:5162771/1‑71 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt < 1:736227/41‑1 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt < 1:2991618/41‑1 (MQ=255) cTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2246479/1‑51 (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) tACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCt > 1:3357756/1‑63 (MQ=255) aCCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCtt < 1:52630/50‑1 (MQ=255) cGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCtt < 1:1396736/71‑1 (MQ=255) cGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCtc > 1:5537000/1‑70 (MQ=255) cGTCATACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCtc < 1:1665900/71‑2 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg > 1:1869083/1‑71 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg < 1:94395/71‑1 (MQ=255) gTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTg > 1:5531244/1‑71 (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) aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc > 1:4025508/1‑37 (MQ=255) aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTa > 1:3644727/1‑46 (MQ=255) aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGc > 1:923912/1‑71 (MQ=255) aTACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGc > 1:3595857/1‑71 (MQ=255) aTACATGCGACCAAGCACGCGAGCAGTGTCTTTAATCGACTCTTTa > 1:2356375/1‑46 (MQ=255) aTACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCggcc > 1:3962020/1‑69 (MQ=255) tACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc > 1:1830407/1‑71 (MQ=255) tACATCCGCCCGAGAACCCGCGCGGTGTCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGccc > 1:3542633/1‑71 (MQ=255) aCATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:4259163/1‑70 (MQ=255) cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:5116345/1‑38 (MQ=255) cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:2368551/1‑38 (MQ=255) cATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:5194333/1‑69 (MQ=255) cATGCGACCAACCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCga < 1:2594551/71‑1 (MQ=255) aTGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTg > 1:4953611/1‑53 (MQ=255) aTGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:4380865/1‑68 (MQ=255) tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCaa < 1:3244587/48‑1 (MQ=255) tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:3080077/1‑67 (MQ=255) tGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGcc > 1:3635020/1‑67 (MQ=255) gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTgg > 1:1002154/1‑52 (MQ=255) gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCt > 1:2186677/1‑60 (MQ=255) gCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCgaga > 1:4028116/1‑70 (MQ=255) ccAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt < 1:22761/71‑1 (MQ=255) cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGt < 1:867675/70‑1 (MQ=255) cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTa < 1:3437969/71‑1 (MQ=255) cAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTa < 1:4491596/71‑1 (MQ=255) aaGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTaa > 1:3226887/1‑71 (MQ=255) | TATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAA > Exported/2919337‑2919475 |
| 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: ‑ |