| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,204 | G→A | 27.9% | D164D (GAC→GAT) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,204 | 0 | G | A | 27.9% | 185.5 / 78.1 | 118 | D164D (GAC→GAT) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base G (33/52); new base A (18/15); total (51/67) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.49e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
Only 100 of 124 total aligned reads displayed.
ACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGAT > Exported/2919136‑2919274 | aacAGGCGCAGATCCAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATc < 1:5358180/69‑1 (MQ=255) ccAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCa < 1:4247850/71‑1 (MQ=255) ccAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCa > 1:2192899/1‑71 (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) tCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGAc > 1:5153413/1‑71 (MQ=255) ccAGCCCGGTCAGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGAc > 1:4885901/1‑70 (MQ=255) cAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGAcc < 1:445215/70‑1 (MQ=255) cAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCa < 1:4257598/71‑1 (MQ=255) cAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCa < 1:4250852/71‑1 (MQ=255) aGACCGGTAAGCGCCGCAGCTTCGAGGATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg < 1:2021795/66‑1 (MQ=255) aGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAg > 1:2108848/1‑71 (MQ=255) ccGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCg < 1:4517453/70‑1 (MQ=255) gtcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGt < 1:1107373/65‑1 (MQ=255) gTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAt > 1:3223895/1‑71 (MQ=255) tcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtc < 1:1755994/69‑2 (MQ=255) tcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtc > 1:2944657/3‑70 (MQ=255) 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) ccgccgCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATc > 1:4913882/1‑43 (MQ=19) ccgccgCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATc > 1:849816/1‑43 (MQ=19) ccgccgCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta < 1:4529423/71‑2 (MQ=255) cgccgcTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta < 1:2074957/70‑2 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTc < 1:1126282/37‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTc < 1:2764949/37‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:4436257/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:3830421/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:5233290/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGGCAt < 1:3973324/58‑1 (MQ=255) ccaGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTg > 1:3993969/3‑71 (MQ=255) cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg > 1:659017/1‑71 (MQ=255) gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc > 1:3463588/1‑71 (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 < 1:5507909/71‑1 (MQ=255) tCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCa > 1:5395084/1‑42 (MQ=16) tCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg > 1:5584906/1‑70 (MQ=255) tCGAATTGCCCGTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCggg > 1:4874228/1‑70 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg < 1:510150/38‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg < 1:2038924/38‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg < 1:4465935/38‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt < 1:4486841/64‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt < 1:921967/64‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt < 1:1921360/64‑1 (MQ=255) cGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAttt > 1:4466983/1‑50 (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) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa < 1:4625081/70‑1 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa > 1:4089195/1‑70 (MQ=255) aaTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTg < 1:1329905/53‑1 (MQ=255) aTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAAt > 1:3432057/1‑71 (MQ=255) aTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAAt > 1:1202170/1‑71 (MQ=255) ttGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt < 1:3869899/50‑1 (MQ=255) ttGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt < 1:1552780/50‑1 (MQ=255) tGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc > 1:663767/1‑71 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc < 1:181489/70‑1 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc < 1:3273038/70‑1 (MQ=255) cccATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc < 1:5137429/71‑1 (MQ=255) ccATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTc < 1:691142/38‑1 (MQ=16) ccATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTc < 1:1916129/38‑1 (MQ=16) cATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTc < 1:1559139/37‑1 (MQ=16) 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) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGcc < 1:2221004/55‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc < 1:5407096/67‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTg > 1:4613013/1‑70 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGc < 1:2808378/71‑1 (MQ=255) gttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGa < 1:2684960/44‑1 (MQ=255) 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) tgttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATg > 1:3016110/1‑71 (MQ=255) tgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg < 1:373920/54‑1 (MQ=255) tgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg > 1:2894917/1‑54 (MQ=255) gttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCt > 1:647392/1‑62 (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) gcgcgTCACGTGCATAGACCAGCGTCATTTCGTTGTACGCt < 1:3950997/41‑1 (MQ=38) cgcaTCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGc < 1:4367059/61‑1 (MQ=255) gTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTgag > 1:5313960/1‑66 (MQ=255) gTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGAt < 1:4850782/71‑1 (MQ=255) | ACCAGACGCAAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGAT > Exported/2919136‑2919274 |
| 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: ‑ |