| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,341 | C→G | 17.5% | E119Q (GAA→CAA) ‡ | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,341 | 0 | C | G | 17.5% | 255.9 / 42.3 | 114 | E119Q (GAA→CAA) ‡ | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base C (48/46); new base G (13/7); total (61/53) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.26e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.42e-01 | |||||||||||
Only 100 of 120 total aligned reads displayed.
GATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACG > Exported/2919272‑2919411 | gaTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTcc < 1:492190/71‑1 (MQ=255)gaTCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTcc < 1:1094994/71‑1 (MQ=255) ccGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGc > 1:1182776/1‑70 (MQ=255) gCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAg > 1:256341/1‑71 (MQ=255) ccAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAgt < 1:4649019/71‑1 (MQ=255) gcagcTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAgtg > 1:4436788/1‑69 (MQ=255) gcTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCg < 1:540105/71‑1 (MQ=255) cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa < 1:4943226/71‑1 (MQ=255) cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa < 1:1013121/70‑1 (MQ=255) cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa < 1:2351598/70‑1 (MQ=255) cGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACa < 1:5410958/70‑1 (MQ=255) tGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt > 1:2501416/1‑70 (MQ=255) gAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGAc > 1:1907166/1‑71 (MQ=255) aCTCATTGGTCAGGCCATTCCATACCTGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa < 1:58522/71‑1 (MQ=255) cTCGTTGGTCAGCCCGTTCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGccgt < 1:2124962/71‑3 (MQ=255) cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt < 1:3328650/71‑1 (MQ=255) cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt < 1:1589782/71‑1 (MQ=255) cTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCAt < 1:2992503/71‑1 (MQ=255) tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg < 1:4003715/43‑1 (MQ=255) tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg < 1:1892150/43‑1 (MQ=255) tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCg < 1:2920689/43‑1 (MQ=255) tCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGAc > 1:212285/1‑56 (MQ=255) aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtctc > 1:4668015/1‑60 (MQ=255) aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc > 1:5674693/1‑71 (MQ=255) aTTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGc > 1:5324878/1‑71 (MQ=255) tGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGa > 1:1539121/1‑51 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAAtc > 1:4569142/1‑55 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa > 1:3724808/1‑61 (MQ=255) ggTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGa > 1:5145407/1‑61 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:4780463/70‑1 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:571441/70‑1 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:2973416/70‑1 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:2879803/70‑1 (MQ=255) tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCa < 1:3460710/39‑1 (MQ=255) tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCa < 1:2228256/39‑1 (MQ=255) tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:1858072/71‑1 (MQ=255) tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:3589598/71‑1 (MQ=255) aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa > 1:2758018/1‑71 (MQ=255) ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATa < 1:4341432/61‑1 (MQ=255) ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:1413791/68‑1 (MQ=255) ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:241723/68‑1 (MQ=255) gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCa < 1:900757/58‑1 (MQ=255) gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACt < 1:1812446/71‑1 (MQ=255) ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACt > 1:2042270/4‑70 (MQ=255) ccATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg < 1:1675769/71‑1 (MQ=255) cgttCCACACCGTCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTg > 1:2836535/3‑70 (MQ=255) cgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGa < 1:475425/69‑1 (MQ=255) cATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGa < 1:4742506/71‑1 (MQ=255) gttCCACACCGGCACGCCCGCATACTGCGCCAGCGTATCGACCACTTCCTGGCCGTGACCGCGATACTg < 1:1508771/68‑1 (MQ=255) ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:3283864/63‑1 (MQ=255) tCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtg > 1:2279965/1‑70 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACaa > 1:3552184/1‑41 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:3929235/1‑71 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:5014182/1‑71 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:402945/1‑71 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:2680694/1‑71 (MQ=255) ccACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtgc > 1:3211553/1‑69 (MQ=255) cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATa < 1:4792160/69‑1 (MQ=255) cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAcc > 1:5485464/1‑71 (MQ=255) aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgcg < 1:4121044/58‑1 (MQ=255) aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg < 1:1697541/71‑1 (MQ=255) aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg < 1:2367806/71‑1 (MQ=255) tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:4624778/58‑1 (MQ=255) tACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt < 1:4988659/71‑1 (MQ=255) aCCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa > 1:4976226/1‑57 (MQ=255) aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt > 1:733439/1‑70 (MQ=255) aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTc < 1:333869/71‑1 (MQ=255) ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTc < 1:3940701/70‑1 (MQ=255) ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:4518782/1‑71 (MQ=255) ccGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCa > 1:2263157/1‑71 (MQ=255) ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:3176107/1‑71 (MQ=255) ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:4488857/1‑71 (MQ=255) gCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATAc < 1:3546077/71‑1 (MQ=255) gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:269145/1‑70 (MQ=255) gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:484841/1‑70 (MQ=255) cACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa > 1:10161/1‑71 (MQ=255) gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCt > 1:1112475/1‑35 (MQ=255) gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa > 1:3112073/1‑51 (MQ=255) gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGc < 1:3089849/71‑1 (MQ=255) cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGc > 1:400834/1‑70 (MQ=255) cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGc > 1:78385/1‑70 (MQ=255) cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg < 1:4496304/71‑1 (MQ=255) cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg < 1:5055038/71‑1 (MQ=255) gCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa < 1:5155006/69‑1 (MQ=255) gTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc > 1:4695523/1‑69 (MQ=255) gTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc > 1:4983560/1‑69 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgcg > 1:159110/1‑41 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:2112056/1‑71 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:4119429/1‑71 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATAATGAATACCGTCATACATGCGACCAAg > 1:5192670/1‑71 (MQ=255) aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:1579204/1‑70 (MQ=255) aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg < 1:133222/70‑1 (MQ=255) aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:776690/1‑70 (MQ=255) ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGcc > 1:4921986/1‑36 (MQ=255) ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGaa > 1:1573367/1‑47 (MQ=255) ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:1888607/1‑55 (MQ=255) ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa > 1:3163553/1‑62 (MQ=255) ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcg > 1:832260/1‑71 (MQ=255) ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAc < 1:74845/70‑1 (MQ=255) ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAc < 1:949554/70‑1 (MQ=255) | GATCCGCCAGCAGCTGCGTGGGATGGAACTCATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACG > Exported/2919272‑2919411 |
| 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: ‑ |