| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,228 | T→C | 22.9% | E156E (GAA→GAG) | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,228 | 0 | T | C | 22.9% | 218.8 / 64.8 | 122 | E156E (GAA→GAG) | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base T (40/54); new base C (14/14); total (54/68) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.21e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.57e-01 | |||||||||||
Only 100 of 131 total aligned reads displayed.
AGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGG > Exported/2919160‑2919297 | aGCGCCGCCGCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCAtctc < 1:792831/71‑1 (MQ=255)aGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTc > 1:826624/1‑71 (MQ=255)aGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTc > 1:813929/1‑71 (MQ=255) gccgcAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGtt > 1:1749934/1‑71 (MQ=255) ccgccgCTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta < 1:4529423/71‑2 (MQ=255) cgccgcTTCCAGCATCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGtta < 1:2074957/70‑2 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:3143561/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:4436257/71‑1 (MQ=255) cTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCt < 1:5233290/71‑1 (MQ=255) cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg > 1:659017/1‑71 (MQ=255) cGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTg > 1:3881427/1‑71 (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) aTCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg < 1:5507909/71‑1 (MQ=255) aTCGAGTTGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg < 1:4243788/71‑1 (MQ=255) tCGAATTGCCCGTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCggg > 1:4874228/1‑70 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt < 1:1921360/64‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt < 1:921967/64‑1 (MQ=255) tCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCttt < 1:4486841/64‑1 (MQ=255) cGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAttt > 1:4466983/1‑50 (MQ=255) cGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCAttt > 1:4026614/1‑50 (MQ=255) gagttGCCCATGTTGTTGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCcgg > 1:2192853/4‑68 (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) aaTTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTg < 1:1329905/53‑1 (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) tGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc > 1:663767/1‑71 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc < 1:181489/70‑1 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGc < 1:3273038/70‑1 (MQ=255) gCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCt > 1:5246231/1‑71 (MQ=255) cATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCt < 1:1725906/71‑1 (MQ=255) aTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg < 1:4587879/58‑1 (MQ=255) aTGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg < 1:760622/58‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTc < 1:4227771/40‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc < 1:5407096/67‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc < 1:4580676/67‑1 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTg > 1:4613013/1‑70 (MQ=255) tgttgtTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGc < 1:2808378/71‑1 (MQ=255) gttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGa < 1:759527/44‑1 (MQ=255) gttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGa < 1:2684960/44‑1 (MQ=255) ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCaaa > 1:3554266/1‑60 (MQ=255) ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTc > 1:1514884/1‑65 (MQ=255) ttgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCa < 1:5141844/70‑1 (MQ=255) tgttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATg > 1:3016110/1‑71 (MQ=255) tgttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATg > 1:911300/1‑71 (MQ=255) tgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg < 1:373920/54‑1 (MQ=255) tgttACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCgg > 1:2894917/1‑54 (MQ=255) gttGCGCGCATCGCCCGCGTAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCt > 1:647392/1‑62 (MQ=255) tACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATg > 1:2044921/1‑68 (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) gTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTgag > 1:5313960/1‑66 (MQ=255) gTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGAt < 1:4850782/71‑1 (MQ=255) cACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTg < 1:3114670/55‑1 (MQ=255) cACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATcc > 1:2351368/1‑71 (MQ=255) aCCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCg > 1:1206329/1‑71 (MQ=255) gCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGcc < 1:5354942/69‑1 (MQ=255) gCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGcc < 1:5039536/69‑1 (MQ=255) cATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCt < 1:3144619/45‑1 (MQ=255) gtAGACCAGCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCcagca < 1:3256820/70‑1 (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) ccAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGc < 1:3548393/71‑1 (MQ=255) cAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGc < 1:2206133/70‑1 (MQ=255) cAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCg > 1:3087521/1‑71 (MQ=255) cAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCg < 1:2776115/71‑1 (MQ=255) gCGTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGtc < 1:3738147/71‑2 (MQ=255) gTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGt > 1:3611139/1‑44 (MQ=16) gTCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTcgg < 1:2875392/71‑1 (MQ=255) tCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTcggg > 1:958237/1‑70 (MQ=255) tCATCTCGTTAAACGCCTTGCCCGGCAGGTGCTCCTGCATGGTCATCAGGTCCGCCAGCAGCTGGGTcggg < 1:988855/71‑2 (MQ=255) aTTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGAt > 1:5114721/1‑49 (MQ=255) aTTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGAt > 1:4524402/1‑49 (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) tttCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTgag < 1:1933938/43‑1 (MQ=255) tttCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATg > 1:1521858/1‑70 (MQ=255) ttCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATgg > 1:2694170/1‑70 (MQ=255) ttCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATgg > 1:4612318/1‑70 (MQ=255) ttCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATgg < 1:98710/70‑1 (MQ=255) | AGCGCCGCAGCTTCGAGCATCGAATTGCCCATGTTGTTACGCGCGTCACCTGCATAGACCAGCGTCATTTCGTTGAACGCTTTGCCGGGCAAATGCTCCTGCATGGTGAGAAGATCCGCCAGCAGCTGCGTGGGATGG > Exported/2919160‑2919297 |
| 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: ‑ |