| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 1,792,350 | C→T | 14.6% | A245V (GCG→GTG) ‡ | gabT → | 4‑aminobutyrate aminotransferase, PLP‑dependent |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 1,792,350 | 0 | C | T | 14.6% | 113.4 / 10.2 | 48 | A245V (GCG→GTG) ‡ | gabT | 4‑aminobutyrate aminotransferase, PLP‑dependent |
| Reads supporting (aligned to +/- strand): ref base C (23/18); new base T (4/3); total (27/21) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.06e-01 | |||||||||||
AGCGTTTACGCGCTCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGAAA > Exported/1792284‑1792420 | aGCGTTTACGCGCTCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCgggg > 1:3037624/1‑71 (MQ=255) tctGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGc > 1:1664302/1‑71 (MQ=255) ctGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTAc > 1:4993916/1‑62 (MQ=255) ctGTGCGACGAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCt < 1:4652432/71‑1 (MQ=255) tgtgtgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTg > 1:4684396/1‑71 (MQ=255) tgtgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTg < 1:1308500/69‑1 (MQ=255) tgtgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTg < 1:849431/69‑1 (MQ=255) tgtgACGAGCACGGGATCATGCTGAATGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCt < 1:4720948/68‑1 (MQ=255) gcgACGAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGttt > 1:4831320/3‑71 (MQ=255) tgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCggg > 1:1961799/1‑51 (MQ=255) tgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCggg > 1:532730/1‑51 (MQ=255) tgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCggg > 1:2040951/1‑51 (MQ=255) tgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCggg > 1:4733063/1‑51 (MQ=255) gatgAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGTTTGc < 1:893522/68‑1 (MQ=255) aCGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGc < 1:782166/70‑1 (MQ=255) aCGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGc < 1:2704639/70‑1 (MQ=255) gAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGtt > 1:5575742/1‑65 (MQ=255) gCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGTTTGCCATgg < 1:5162724/71‑1 (MQ=255) cACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCgg > 1:2652280/1‑53 (MQ=255) cACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATg > 1:2924971/1‑69 (MQ=255) gggATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCa < 1:2439660/71‑1 (MQ=255) tCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTg < 1:3937224/53‑1 (MQ=255) tCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATg > 1:606700/1‑71 (MQ=255) gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGa > 1:757240/1‑65 (MQ=255) gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGa > 1:1979243/1‑65 (MQ=255) gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGa > 1:243532/1‑65 (MQ=255) gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCg > 1:23092/1‑71 (MQ=255) gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCg > 1:1003948/1‑71 (MQ=255) gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCg > 1:3120713/1‑71 (MQ=255) cTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCg < 1:4467188/70‑1 (MQ=255) cTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGt < 1:1239879/71‑1 (MQ=255) tGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGa > 1:5492579/1‑54 (MQ=255) tGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGtt > 1:62374/1‑71 (MQ=255) aTTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGtt < 1:4786949/69‑1 (MQ=255) ttGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGa > 1:5322686/1‑51 (MQ=255) cGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATgg < 1:3804862/50‑1 (MQ=255) cGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATgg < 1:4517687/50‑1 (MQ=255) cGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCgg < 1:2118988/71‑1 (MQ=255) cGATGAAGTGCAGAGCGGCGCGGGGAGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCgg < 1:4446443/71‑1 (MQ=255) gATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGa > 1:1191120/1‑71 (MQ=255) aTGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGTTTGCCATGGa > 1:68233/1‑49 (MQ=12) gAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCt > 1:4795562/1‑71 (MQ=255) gAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCt > 1:380934/1‑71 (MQ=255) atgTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATc < 1:4160121/67‑1 (MQ=255) aaGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCt > 1:3824077/1‑70 (MQ=255) aGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGa < 1:1930109/66‑1 (MQ=255) agagCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTaccacc < 1:2033011/71‑1 (MQ=255) agagCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTaccacc < 1:3020909/71‑1 (MQ=255) cgcgGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGa < 1:3208125/71‑1 (MQ=255) cgcgGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGa < 1:3796617/71‑1 (MQ=255) gcgGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGa > 1:3979176/1‑70 (MQ=255) cgGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGaaa < 1:1877644/71‑1 (MQ=255) | AGCGTTTACGCGCTCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGAAA > Exported/1792284‑1792420 |
| 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: ‑ |