| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,213 | A→G | 24.2% | Y161Y (TAT→TAC) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,213 | 0 | A | G | 24.2% | 208.6 / 68.0 | 120 | Y161Y (TAT→TAC) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base A (35/56); new base G (14/15); total (49/71) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.90e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.57e-01 | |||||||||||
Only 100 of 122 total aligned reads displayed.
AAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCA > Exported/2919145‑2919283 | 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) aGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAg < 1:1841464/66‑1 (MQ=255) aGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAg > 1:2108848/1‑71 (MQ=255) aCCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCg < 1:4957157/71‑1 (MQ=255) ccGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCg < 1:4517453/70‑1 (MQ=255) gtcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGt < 1:2424723/65‑1 (MQ=255) gtcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGt < 1:1107373/65‑1 (MQ=255) gTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAt > 1:3223895/1‑71 (MQ=255) tcaGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtc < 1:1755994/69‑2 (MQ=255) aGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtctc < 1:792831/71‑1 (MQ=255) aGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTc > 1:813929/1‑71 (MQ=255) gccgcAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTc < 1:851775/68‑1 (MQ=255) ccgccgCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta < 1:4529423/71‑2 (MQ=255) cgccgcTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta < 1:2074957/70‑2 (MQ=255) gcAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa < 1:4850436/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:5233290/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:3143561/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGGCAt < 1:3973324/58‑1 (MQ=255) cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg > 1:3881427/1‑71 (MQ=255) cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg > 1:659017/1‑71 (MQ=255) gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc > 1:2560428/1‑71 (MQ=255) gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc > 1:3463588/1‑71 (MQ=255) gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGc > 1:4409404/1‑71 (MQ=255) gAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACAAGCGTCATTTCGTTGAACGATTTGc > 1:2598751/1‑71 (MQ=255) caGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTga > 1:3453267/2‑70 (MQ=255) aGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta < 1:20650/60‑2 (MQ=255) aGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGc < 1:3308479/70‑1 (MQ=255) aTCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg < 1:4243788/71‑1 (MQ=255) aTCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg < 1:5507909/71‑1 (MQ=255) tCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCa > 1:5395084/1‑42 (MQ=16) 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 < 1:1921360/64‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt < 1:921967/64‑1 (MQ=255) cGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAttt > 1:4466983/1‑50 (MQ=255) cGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAttt > 1:4026614/1‑50 (MQ=255) gagttGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg > 1:4565363/4‑68 (MQ=255) gagttGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg > 1:1837444/4‑68 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa > 1:2783816/1‑56 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa > 1:4046558/1‑56 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGaa > 1:4053313/1‑56 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa < 1:4625081/70‑1 (MQ=255) gAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCa > 1:4089195/1‑70 (MQ=255) aaTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTg < 1:1329905/53‑1 (MQ=255) aTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAAt > 1:1202170/1‑71 (MQ=255) ttGCCCATGTTGTTACGCGGGTCACCTGCATAGACCAGCGTCATTTCGtt < 1:2024114/50‑1 (MQ=255) ttGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt < 1:1552780/50‑1 (MQ=255) ttGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt < 1:2077308/50‑1 (MQ=255) ttGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt < 1:3869899/50‑1 (MQ=255) tGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc > 1:663767/1‑71 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc < 1:3273038/70‑1 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc < 1:181489/70‑1 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc < 1:3308099/70‑1 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCt > 1:5246231/1‑71 (MQ=255) cATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTc < 1:1559139/37‑1 (MQ=16) cATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCt < 1:1725906/71‑1 (MQ=255) aTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg < 1:760622/58‑1 (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) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc < 1:5407096/67‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTg > 1:4613013/1‑70 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGc < 1:2808378/71‑1 (MQ=255) gttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGa < 1:759527/44‑1 (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 > 1:911300/1‑71 (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 > 1:4202588/1‑68 (MQ=255) tACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGt > 1:3598803/1‑70 (MQ=255) gcgcgcaTCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGtca > 1:650508/2‑69 (MQ=255) cgcgcaTCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGtca < 1:846672/70‑3 (MQ=255) gcgcgTCACGTGCATAGACCAGCGTCATTTCGTTGTACGCt < 1:3950997/41‑1 (MQ=38) cgcaTCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGc < 1:4367059/61‑1 (MQ=255) cACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTg < 1:3114670/55‑1 (MQ=255) cACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATcc > 1:2351368/1‑71 (MQ=255) aCCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCg > 1:1206329/1‑71 (MQ=255) tGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGc > 1:1455516/1‑69 (MQ=255) gCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGcc < 1:5354942/69‑1 (MQ=255) gCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGcc < 1:5039536/69‑1 (MQ=255) cATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCt < 1:3144619/45‑1 (MQ=255) cATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCt < 1:4560080/45‑1 (MQ=255) aTAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCcagca < 1:2980714/71‑1 (MQ=255) | AAATCCAGACCGGTAAGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCA > Exported/2919145‑2919283 |
| 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: ‑ |