| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,198 | A→G | 26.8% | R166R (CGT→CGC) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,198 | 0 | A | G | 26.8% | 192.4 / 79.8 | 123 | R166R (CGT→CGC) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base A (35/55); new base G (18/15); total (53/70) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.51e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.71e-01 | |||||||||||
Only 100 of 126 total aligned reads displayed.
GTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGT > Exported/2919128‑2919266 | gtgGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTa > 1:4052399/1‑71 (MQ=255) gcgcGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAcgc > 1:2493851/1‑71 (MQ=255) aacAGGCGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATc < 1:5358180/69‑1 (MQ=255) aggcGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGcc > 1:145898/4‑71 (MQ=255) aggcGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGcc > 1:4022555/4‑71 (MQ=255) agaTCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGcg > 1:5596632/3‑68 (MQ=255) aaaTCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCa > 1:1247361/1‑69 (MQ=255) ccAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGAc > 1:4885901/1‑70 (MQ=255) cAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCa < 1:4250852/71‑1 (MQ=255) cAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCa < 1:4257598/71‑1 (MQ=255) aGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg < 1:1841464/66‑1 (MQ=255) aGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAg > 1:2108848/1‑71 (MQ=255) gACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAc < 1:4521722/48‑1 (MQ=255) aCCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCg < 1:4957157/71‑1 (MQ=255) ggTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCa < 1:1348139/71‑1 (MQ=255) gtcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGt < 1:1107373/65‑1 (MQ=255) gtcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGt < 1:2424723/65‑1 (MQ=255) gTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAt > 1:3223895/1‑71 (MQ=255) tcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtc < 1:1755994/69‑2 (MQ=255) tcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtc > 1:2944657/3‑70 (MQ=255) tAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAcg < 1:2150774/43‑1 (MQ=255) tAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTAcg < 1:3545084/43‑1 (MQ=255) aGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtctc < 1:792831/71‑1 (MQ=255) aGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTc > 1:813929/1‑71 (MQ=255) aGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTc > 1:826624/1‑71 (MQ=255) gccgcAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTc < 1:851775/68‑1 (MQ=255) gccgcAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt > 1:1749934/1‑71 (MQ=255) ccgccgCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta < 1:4529423/71‑2 (MQ=255) gcAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa < 1:4850436/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTc < 1:1126282/37‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:4436257/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:3143561/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:5233290/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGGCAt < 1:3973324/58‑1 (MQ=255) cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg > 1:659017/1‑71 (MQ=255) cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg > 1:3881427/1‑71 (MQ=255) gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc > 1:4409404/1‑71 (MQ=255) gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc > 1:2560428/1‑71 (MQ=255) gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACAAGCGTCATTTCGTTGAACGATTTGc > 1:2598751/1‑71 (MQ=255) caGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTga > 1:3453267/2‑70 (MQ=255) aGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta < 1:20650/60‑2 (MQ=255) aGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGc < 1:3308479/70‑1 (MQ=255) aGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGcc < 1:3209364/71‑1 (MQ=255) gCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGcg < 1:3255058/38‑2 (MQ=16) aTCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg < 1:4243788/71‑1 (MQ=255) aTCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg < 1:5507909/71‑1 (MQ=255) tCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCa > 1:5395084/1‑42 (MQ=16) tCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg > 1:5584906/1‑70 (MQ=255) tCGAATTGCCCGTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCggg > 1:4874228/1‑70 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg < 1:2038924/38‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg < 1:510150/38‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg < 1:4465935/38‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt < 1:1921360/64‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt < 1:921967/64‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt < 1:4486841/64‑1 (MQ=255) cGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAttt > 1:4026614/1‑50 (MQ=255) cGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAttt > 1:4466983/1‑50 (MQ=255) gagttGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg > 1:2192853/4‑68 (MQ=255) gagttGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg > 1:4565363/4‑68 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa > 1:2783816/1‑56 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa > 1:4046558/1‑56 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa > 1:4089195/1‑70 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa < 1:4625081/70‑1 (MQ=255) aTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAAt > 1:3432057/1‑71 (MQ=255) aTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAAt > 1:1202170/1‑71 (MQ=255) ttGCCCATGTTGTTACGCGGGTCACCTGCATAGACCAGCGTCATTTCGtt < 1:2024114/50‑1 (MQ=255) ttGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt < 1:3869899/50‑1 (MQ=255) ttGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt < 1:1552780/50‑1 (MQ=255) ttGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt < 1:2077308/50‑1 (MQ=255) tGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc > 1:663767/1‑71 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc < 1:181489/70‑1 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc < 1:3308099/70‑1 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCt > 1:5246231/1‑71 (MQ=255) cccATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc < 1:5137429/71‑1 (MQ=255) ccATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTc < 1:691142/38‑1 (MQ=16) ccATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTc < 1:1916129/38‑1 (MQ=16) cATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCt < 1:1725906/71‑1 (MQ=255) aTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg < 1:760622/58‑1 (MQ=255) aTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg < 1:4587879/58‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTc < 1:4227771/40‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTg < 1:708782/44‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGc < 1:5447560/49‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGcc < 1:2221004/55‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc < 1:4580676/67‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTg > 1:4613013/1‑70 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGc < 1:2808378/71‑1 (MQ=255) gttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGa < 1:2684960/44‑1 (MQ=255) ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCaaa > 1:3554266/1‑60 (MQ=255) ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa < 1:4470762/58‑1 (MQ=255) ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc > 1:4593094/1‑65 (MQ=255) ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc > 1:1514884/1‑65 (MQ=255) ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCa < 1:5141844/70‑1 (MQ=255) tgttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATg > 1:2632796/1‑71 (MQ=255) tgttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATg > 1:911300/1‑71 (MQ=255) tgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg > 1:2894917/1‑54 (MQ=255) tgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg < 1:373920/54‑1 (MQ=255) ttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATTGt < 1:2013748/71‑1 (MQ=255) tACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATg > 1:2044921/1‑68 (MQ=255) tACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATg > 1:4202588/1‑68 (MQ=255) tACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGt > 1:3598803/1‑70 (MQ=255) | GTGGCGCGACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGT > Exported/2919128‑2919266 |
| 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: ‑ |