| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,918,751 | A→G | 23.8% | D315D (GAT→GAC) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,918,751 | 0 | A | G | 23.8% | 182.8 / 56.7 | 105 | D315D (GAT→GAC) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base A (40/40); new base G (16/9); total (56/49) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.57e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
Only 100 of 112 total aligned reads displayed.
ATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAT > Exported/2918684‑2918820 | aTAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATc > 1:877360/1‑70 (MQ=255) gCAATTATTTACTGAGCGTCGCGCCCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaa > 1:492088/1‑70 (MQ=255) attTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATg > 1:2060654/1‑71 (MQ=255) tttACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATg < 1:644712/70‑1 (MQ=255) tttACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATAAAAAACAATg < 1:4485733/70‑1 (MQ=255) tACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCt < 1:5530519/70‑1 (MQ=255) caaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTcgcc > 1:2189689/3‑70 (MQ=255) gAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTgg < 1:5353396/68‑1 (MQ=255) aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTcg < 1:5402266/54‑2 (MQ=255) aaGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTcgccg > 1:4261758/2‑69 (MQ=255) aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTcg < 1:1345654/54‑2 (MQ=255) aGCGTTGCCATCATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAacac < 1:1100466/59‑1 (MQ=255) aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg > 1:4924839/1‑70 (MQ=255) aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg < 1:4542014/70‑1 (MQ=255) aGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTggcgg > 1:3020288/1‑70 (MQ=255) gCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCa < 1:4845447/71‑1 (MQ=255) cGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaaaa > 1:757299/1‑56 (MQ=255) cGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCaaaaa > 1:4725549/1‑56 (MQ=255) gcgcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCa < 1:4935280/67‑1 (MQ=255) gcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACa > 1:1689430/1‑54 (MQ=255) gcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTc > 1:526949/1‑71 (MQ=255) gcgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTc > 1:5537665/1‑71 (MQ=255) cgACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCg < 1:1460990/71‑1 (MQ=255) atcATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAacac < 1:5057015/48‑1 (MQ=255) tcATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaac < 1:2630418/70‑2 (MQ=255) tcATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTCGTCGAACACGATGCTCGCCGCCGACTCaaac < 1:4758191/70‑2 (MQ=255) cATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTc > 1:376165/1‑66 (MQ=255) cATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGaa > 1:1033733/1‑69 (MQ=255) cATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaaca > 1:3187916/1‑69 (MQ=255) cATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaaca > 1:3081639/1‑69 (MQ=255) cATCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaaca > 1:1793959/1‑69 (MQ=255) aTCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGAc < 1:195660/71‑1 (MQ=255) aTCACCGCTTTGATAGTATGCATACGGTTTTACGCCTGATCAAAAACAATGCTgg > 1:3327857/1‑55 (MQ=255) aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCgaac > 1:3876414/1‑44 (MQ=255) aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCgaac > 1:3346911/1‑44 (MQ=255) aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCaaa > 1:1322001/1‑68 (MQ=255) aTCACCGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAacac > 1:1985400/1‑71 (MQ=255) aCCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACa > 1:2851831/1‑45 (MQ=255) aCCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCt < 1:2302600/70‑1 (MQ=255) aCCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCt < 1:4749531/70‑1 (MQ=255) aCCGCTTTGATAGTATGCATACGGTTTTCCG‑CTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca > 1:5102262/1‑71 (MQ=255) ccGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca < 1:447210/71‑1 (MQ=255) ccGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCtcg > 1:2938459/1‑70 (MQ=255) ccGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCtcg > 1:2910214/1‑70 (MQ=255) cGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat > 1:3119782/1‑71 (MQ=255) cGCCTTAATCGTATGCATCCGGTTTTCCGCCTGGTcg < 1:295088/37‑2 (MQ=16) gCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCt < 1:4946635/47‑1 (MQ=255) cTTTGATAGTATTCATACGGTTTTCCGCCTGATCAAAAACaa > 1:4833172/1‑42 (MQ=255) cTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACaa > 1:306636/1‑42 (MQ=255) tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAAc < 1:1011809/39‑1 (MQ=255) tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAAc < 1:674663/39‑1 (MQ=255) tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAAc < 1:3987717/39‑1 (MQ=255) tttGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAg > 1:2536734/1‑71 (MQ=255) tGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGt < 1:961524/70‑1 (MQ=255) tGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGt < 1:1198552/70‑1 (MQ=255) gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg < 1:3663839/70‑1 (MQ=255) gATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTg < 1:2907587/70‑1 (MQ=255) aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc < 1:1445269/71‑1 (MQ=255) aTAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc > 1:1402036/1‑71 (MQ=255) tAGTATCCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACt < 1:5361374/71‑1 (MQ=255) gTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:2452414/71‑1 (MQ=255) aTGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGaa > 1:5548068/1‑51 (MQ=255) aTGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGaa > 1:2568765/1‑51 (MQ=255) tGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcatca < 1:4097790/60‑1 (MQ=255) tGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCa > 1:4739036/1‑70 (MQ=255) cATCCGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCAtcc > 1:3895276/1‑69 (MQ=255) aTACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATAcc > 1:4716868/1‑71 (MQ=255) tACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:3943634/64‑1 (MQ=255) ccGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGc > 1:1221099/2‑71 (MQ=255) cGGTTTTCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGc > 1:4455993/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGa > 1:3950618/1‑38 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGGCCTCATCAg > 1:2695654/1‑55 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca > 1:5146430/1‑51 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCtca > 1:2192111/1‑51 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAg > 1:2339251/1‑55 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:2323733/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:1584815/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc > 1:4756248/1‑70 (MQ=255) cGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGc < 1:1832383/70‑1 (MQ=255) ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg < 1:818793/71‑1 (MQ=255) ttttCCGCCTGGTCGAACACGATGCTCGCCGCCGACTCAAACACCTCGTCCGTCACCTCCATCCCGCCGTg < 1:2992857/71‑1 (MQ=255) ttttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg < 1:1080511/71‑1 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATg > 1:627066/1‑69 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:5079649/70‑1 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:1652947/70‑1 (MQ=255) ttCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:132974/70‑1 (MQ=255) ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa < 1:2975957/69‑1 (MQ=255) ccGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAg < 1:3210685/70‑1 (MQ=255) ccTGATCAAAAACAATGCTGGCGGCAGATTCGAAGAc > 1:3574575/1‑37 (MQ=255) ccTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa < 1:4915402/71‑1 (MQ=255) cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa > 1:4355450/1‑70 (MQ=255) cTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCa > 1:1270875/1‑70 (MQ=255) gATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGAc < 1:1376599/46‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat < 1:2247571/38‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCtcat < 1:2498425/38‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTc < 1:879623/48‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGt < 1:3617310/61‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTa < 1:5396164/62‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt < 1:4201521/70‑1 (MQ=255) aTCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAt > 1:2346855/1‑70 (MQ=255) | ATAGCAATTATTTACTGAGCGTCGCGACCATCACCGCTTTGATAGTATGCATACGGTTTTCCGCCTGATCAAAAACAATGCTGGCGGCAGATTCGAAGACCTCATCAGTGACTTCCATACCGCCATGTAGGCCAAAT > Exported/2918684‑2918820 |
| 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: ‑ |