| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,606 | C→G | 5.6% | L30L (CTG→CTC) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,606 | 0 | C | G | 5.6% | 275.8 / 4.5 | 90 | L30L (CTG→CTC) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base C (40/44); new base G (2/3); total (43/47) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.18e-01 | |||||||||||
TTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTAATTTCAGGAAATGCT > Exported/2919537‑2919676 | ttCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTc < 1:4869782/70‑1 (MQ=255) tCGAAGATGAGCGCGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCTTTGAg > 1:67537/1‑71 (MQ=255) gAAGATGAGCGGGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCt < 1:3950715/71‑1 (MQ=255) gAAGATGAGCGCGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCTTTGAGCt < 1:1862618/71‑1 (MQ=255) gAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCa < 1:1361473/68‑1 (MQ=255) gAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCt < 1:3297626/71‑1 (MQ=255) aaGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCtt < 1:5082994/71‑1 (MQ=255) aaGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCATTCAGCtt < 1:4292735/71‑1 (MQ=255) aGATGAGCGCGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCTTTGAGCtgt > 1:3697866/1‑69 (MQ=255) aGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCtt < 1:3693964/70‑1 (MQ=255) aGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTc > 1:3863955/1‑71 (MQ=255) gATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTcg < 1:3450634/71‑1 (MQ=255) tGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTcgcg > 1:3365949/1‑71 (MQ=255) tGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTcgcg > 1:1689694/1‑71 (MQ=255) tGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTcgcg > 1:1786043/1‑71 (MQ=255) gcgcGATGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCTTTGAGCTGTGCGGca < 1:246471/71‑2 (MQ=255) gcgcGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCt < 1:1198427/71‑1 (MQ=255) cgcgATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTAGCGGCTa < 1:1875674/71‑1 (MQ=255) gcgATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTaa < 1:1695396/71‑1 (MQ=255) gcgATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTaa < 1:5586578/71‑1 (MQ=255) gcgATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTa < 1:615408/70‑1 (MQ=255) aTGTTTTTACCGGTAAGCTTCTGTACTTCCTTGCCATTTTTTTTATCGGCTTTGAg < 1:4165/56‑1 (MQ=255) tGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTgc < 1:5593071/71‑1 (MQ=255) tGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTgc < 1:915484/71‑1 (MQ=255) tGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTg > 1:4691741/1‑70 (MQ=255) gTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCa > 1:913339/1‑53 (MQ=255) gTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCa > 1:2638289/1‑53 (MQ=255) gTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACt > 1:3403086/1‑68 (MQ=255) tttttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTgcag > 1:3826290/1‑71 (MQ=255) tttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGc > 1:1053741/1‑52 (MQ=255) tttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTgcagc < 1:532089/70‑1 (MQ=255) tttACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTgcag > 1:4765830/1‑69 (MQ=255) gTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGtt > 1:3736610/1‑71 (MQ=255) tGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGcagcag < 1:167875/64‑1 (MQ=255) tGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGcagcag < 1:1345453/64‑1 (MQ=255) tGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTg < 1:2613338/71‑1 (MQ=255) tGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTg < 1:693170/71‑1 (MQ=255) tGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTg < 1:589972/71‑1 (MQ=255) tGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTg < 1:287974/71‑1 (MQ=255) gAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGtt < 1:96090/69‑1 (MQ=255) gAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTg < 1:451904/70‑1 (MQ=255) aGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTcg > 1:2059986/1‑46 (MQ=255) aGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAg < 1:911438/71‑1 (MQ=255) gTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGt < 1:4839649/71‑1 (MQ=255) tGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGt > 1:2005583/1‑68 (MQ=255) tGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTc < 1:2651351/70‑1 (MQ=255) tGGCTTCTTCTTTAACGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGtt > 1:3853368/1‑69 (MQ=255) ggCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCa < 1:4072116/70‑1 (MQ=255) ggCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCa < 1:3822507/70‑1 (MQ=255) cttcttcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCt < 1:2409586/44‑1 (MQ=255) tcttcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTgg > 1:556325/1‑71 (MQ=255) tcttcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTgg > 1:4182835/1‑71 (MQ=255) cttcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCt < 1:5250480/68‑1 (MQ=255) cttcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTgg > 1:790176/1‑70 (MQ=255) cttcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTgg > 1:2763184/1‑70 (MQ=255) ttcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTgca > 1:3427529/1‑47 (MQ=255) ttcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCg > 1:2575644/1‑71 (MQ=255) tcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGt > 1:1313663/1‑55 (MQ=255) tcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGt > 1:3215056/1‑55 (MQ=255) tcttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGt > 1:2755861/1‑71 (MQ=255) cttTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGt > 1:885933/1‑70 (MQ=255) tttACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAgg > 1:4697902/1‑49 (MQ=255) tACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGaa < 1:294277/70‑1 (MQ=255) aCCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGaaa < 1:3591916/70‑1 (MQ=255) ccGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCa < 1:264939/57‑1 (MQ=255) ccGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATc < 1:2322358/71‑1 (MQ=255) ccGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATc < 1:4754661/71‑1 (MQ=255) cTTTTCTTATCGGCTTTTAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAg > 1:641636/1‑71 (MQ=255) cTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAg < 1:5301064/71‑1 (MQ=255) cTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAg < 1:802035/71‑1 (MQ=255) tttCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGtt > 1:2128832/1‑50 (MQ=255) tttCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGtt > 1:3089913/1‑50 (MQ=255) tttCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGtt > 1:3798474/1‑50 (MQ=255) ttCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGt < 1:61825/69‑1 (MQ=255) ttCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGt < 1:121846/69‑1 (MQ=255) ttCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGt < 1:1003146/69‑1 (MQ=255) ttCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTaa > 1:1419702/1‑71 (MQ=255) cTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAg > 1:2479029/1‑50 (MQ=255) cTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATc < 1:2059354/63‑1 (MQ=255) tATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGa > 1:2203805/1‑63 (MQ=255) aTCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTAAttt < 1:3257073/69‑1 (MQ=255) aTCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTAAttt > 1:3351020/1‑69 (MQ=255) tCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTAATTTCAg > 1:155031/1‑71 (MQ=255) ggCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTaa > 1:1075285/1‑63 (MQ=255) ggCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTAATTTCAgg > 1:901406/1‑70 (MQ=255) ggCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTAATTTCAGGa < 1:4553218/71‑1 (MQ=255) gCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTAATTTCAGGaa < 1:2460993/71‑1 (MQ=255) gCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTAATTTCAGGa > 1:1846896/1‑70 (MQ=255) tttCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGa > 1:1414266/1‑56 (MQ=255) tttCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGa > 1:1821553/1‑56 (MQ=255) tCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTAATTTCAGGAAATGc > 1:1070067/1‑71 (MQ=255) cAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTAATTTCAGGAAATGCt > 1:1384929/1‑71 (MQ=255) | TTCGAAGATGAGCGCGATGTTTTTACCAGTGAGTTTGGCTTCTTCTTTACCGCTTTTCTTATCGGCTTTCAGCTTCGCGGCTAACTGCAGCAGGCTGTTGAGTTCAGCTGGCGTGAAATCGAGTAATTTCAGGAAATGCT > Exported/2919537‑2919676 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |