| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,234 | G→A | 23.2% | F154F (TTC→TTT) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,234 | 0 | G | A | 23.2% | 233.6 / 65.1 | 125 | F154F (TTC→TTT) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base G (42/54); new base A (17/12); total (59/66) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.04e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.69e-01 | |||||||||||
Only 100 of 129 total aligned reads displayed.
GCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCAT > Exported/2919166‑2919304 | gcAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa < 1:4850436/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:3143561/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:3830421/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:4436257/71‑1 (MQ=255) ccaGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTg > 1:3993969/3‑71 (MQ=255) cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg > 1:659017/1‑71 (MQ=255) cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg > 1:3881427/1‑71 (MQ=255) gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc > 1:3463588/1‑71 (MQ=255) gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc > 1:4409404/1‑71 (MQ=255) gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACAAGCGTCATTTCGTTGAACGATTTGc > 1:2598751/1‑71 (MQ=255) aGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGc < 1:3308479/70‑1 (MQ=255) aTCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg < 1:4243788/71‑1 (MQ=255) tCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg > 1:5584906/1‑70 (MQ=255) tCGAATTGCCCGTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCggg > 1:4874228/1‑70 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt < 1:1921360/64‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt < 1:921967/64‑1 (MQ=255) gagttGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg > 1:2192853/4‑68 (MQ=255) gagttGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg > 1:1837444/4‑68 (MQ=255) gagttGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg > 1:4565363/4‑68 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa > 1:4053313/1‑56 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa > 1:4046558/1‑56 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa > 1:2783816/1‑56 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa > 1:4089195/1‑70 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa < 1:4625081/70‑1 (MQ=255) aaTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTg < 1:1329905/53‑1 (MQ=255) aTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAAt > 1:1202170/1‑71 (MQ=255) aTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAAt > 1:3432057/1‑71 (MQ=255) tGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc > 1:663767/1‑71 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc < 1:181489/70‑1 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc < 1:3308099/70‑1 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc < 1:3273038/70‑1 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCt > 1:5246231/1‑71 (MQ=255) cccATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc < 1:5137429/71‑1 (MQ=255) cATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCt < 1:1725906/71‑1 (MQ=255) aTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg < 1:4587879/58‑1 (MQ=255) aTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg < 1:760622/58‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGc < 1:5447560/49‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc < 1:5407096/67‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGc < 1:2808378/71‑1 (MQ=255) gttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGa < 1:2684960/44‑1 (MQ=255) gttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGa < 1:759527/44‑1 (MQ=255) ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa < 1:4470762/58‑1 (MQ=255) ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc > 1:1514884/1‑65 (MQ=255) ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc > 1:4593094/1‑65 (MQ=255) ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCa < 1:5141844/70‑1 (MQ=255) tgttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATg > 1:2632796/1‑71 (MQ=255) tgttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATg > 1:3016110/1‑71 (MQ=255) ttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATTGt < 1:2013748/71‑1 (MQ=255) tACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATg > 1:4202588/1‑68 (MQ=255) tACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGt > 1:3598803/1‑70 (MQ=255) gcgcgcaTCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGtca > 1:650508/2‑69 (MQ=255) cgcgcaTCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGtca < 1:846672/70‑3 (MQ=255) gTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTgag > 1:5313960/1‑66 (MQ=255) gTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGAt < 1:4850782/71‑1 (MQ=255) cACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATcc > 1:2351368/1‑71 (MQ=255) aCCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCg > 1:1206329/1‑71 (MQ=255) tGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGc > 1:1455516/1‑69 (MQ=255) cATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCt < 1:4560080/45‑1 (MQ=255) cATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCt < 1:3144619/45‑1 (MQ=255) gtAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCcagca < 1:3256820/70‑1 (MQ=255) aTAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCcagca < 1:2980714/71‑1 (MQ=255) tAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCcagcag < 1:200232/71‑1 (MQ=255) gACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCa > 1:914893/1‑47 (MQ=255) gACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCt < 1:2168190/71‑1 (MQ=255) gACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCt < 1:5519083/71‑1 (MQ=255) gACCAGCGCCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCt > 1:5551481/1‑71 (MQ=255) aCCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTg > 1:4465203/1‑71 (MQ=255) aCCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTg < 1:3663917/71‑1 (MQ=255) aCCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTTCATGGTCATCAGGTCCGCCAGCAGCt < 1:79489/70‑1 (MQ=255) ccAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCcagcag > 1:3137687/1‑67 (MQ=255) ccAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGc < 1:3548393/71‑1 (MQ=255) cAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCt > 1:3230000/1‑68 (MQ=255) cAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGc < 1:2206133/70‑1 (MQ=255) cAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCg > 1:3087521/1‑71 (MQ=255) cAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTACTGCATGGTGAGAAGATCCGCcagcag > 1:5283254/1‑66 (MQ=255) gCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGtc < 1:3738147/71‑2 (MQ=255) gTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGt > 1:3611139/1‑44 (MQ=16) gTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTcgg < 1:2875392/71‑1 (MQ=255) tCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTcggg < 1:988855/71‑2 (MQ=255) tCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTcggg > 1:958237/1‑70 (MQ=255) aTTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGAt > 1:4524402/1‑49 (MQ=255) aTTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGAt > 1:5114721/1‑49 (MQ=255) aTTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGAt > 1:2937142/1‑70 (MQ=255) aTTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGAt < 1:3775002/70‑1 (MQ=255) aTTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGAt > 1:1165251/1‑70 (MQ=255) tttCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTgag < 1:3301538/43‑1 (MQ=255) tttCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATg > 1:1521858/1‑70 (MQ=255) ttCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATgg > 1:4612318/1‑70 (MQ=255) ttCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATgg < 1:98710/70‑1 (MQ=255) ttCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATgg > 1:2694170/1‑70 (MQ=255) tCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTcggg > 1:203654/1‑65 (MQ=255) tCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTGGaa > 1:4193708/1‑71 (MQ=255) gTTGTACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACt < 1:5298801/71‑1 (MQ=255) gTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACt < 1:2503699/71‑1 (MQ=255) gTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTCGGGTgg < 1:2222422/67‑1 (MQ=255) tGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCcagc < 1:2175456/50‑1 (MQ=255) tGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATgg < 1:5487741/65‑1 (MQ=255) tGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCa > 1:94922/1‑71 (MQ=255) gAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCAt > 1:3541285/1‑71 (MQ=255) gAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCAt > 1:641879/1‑71 (MQ=255) | GCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGGAACTCAT > Exported/2919166‑2919304 |
| 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: ‑ |