| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | USA300TCH1516_ALE | 1,324,256 | (A)9→8 | coding (1028/2010 nt) | mutL → | DNA mismatch repair protein MutL |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | USA300TCH1516_ALE | 1,324,248 | 0 | A | . | 88.6% | 155.9 / 15.9 | 44 | coding (1020/2010 nt) | mutL | DNA mismatch repair protein MutL |
| Reads supporting (aligned to +/- strand): ref base A (1/4); new base . (15/24); total (16/28) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.38e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
AGACGTAAATGTTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAAAACGATGA > USA300TCH1516_ALE/1324110‑1324391 | agACGTAAATGTTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATGAATTCCTAAATATAACTTGGATTATGTGCCaaaaaaaata < 3:373592/148‑3 (MQ=255) cGTAAATGTTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAg > 3:84666/1‑148 (MQ=255) gTTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGAATTATGTGCC‑AAAAAAAATAAAg > 1:3306/1‑141 (MQ=255) tCATCCAACAAAACTAGAAGTGCGTGTAGGAGATGAAGAGCAACTATACCAATAGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTAcatt > 4:190691/1‑148 (MQ=255) aacaaAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑TAAAAAAATAAAGTATTAcat < 1:48452/141‑1 (MQ=255) aaCTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGaacaa > 3:41050/1‑148 (MQ=255) gAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACaaaa > 3:396908/1‑148 (MQ=255) gTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACaaaa > 2:27614/1‑141 (MQ=255) ttATCAAAAGAAGAGCAACTATACCAATTGATTGTAAGCAAAATACAAAAAGCATTTAAAGACCGAATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTAATACATTCATTCGAACAACAAAAAATCGAAtt < 3:391307/148‑1 (MQ=255) aTCAAAAGAAGAGCAACTTTACCAATTGATAGGGAGCAAAATACAAGAAGCATTTAAAGACAGTATATTAATTTCTAAAAATAACTTGGAAAAAAAG‑AAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTg < 4:161152/148‑1 (MQ=255) aaaGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGTATTATGTACC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACa < 3:389199/148‑1 (MQ=255) agaagaGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACaaa < 4:174731/148‑1 (MQ=255) aagaGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACATCAAAAAATCGAATTTGAACAAAGa < 4:165546/148‑1 (MQ=255) aagaGCAAATATAACAATTGATTGTGACAAAAATACAAGAAGCATTTAAAGACCGTATATTAATACATAAAAATAACTTGGATTATATGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGa < 4:79300/148‑1 (MQ=255) aagaGAAACAATAACAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACAGTATATTAATTCCTAAAAATAACTTGGA‑AAAAAAAAAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGa < 4:160173/148‑1 (MQ=255) agCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACaa < 3:60575/148‑1 (MQ=255) agCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACaa < 3:58260/148‑1 (MQ=255) tataCCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAAcaca < 3:286173/148‑1 (MQ=255) ataCCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACag < 4:143640/148‑1 (MQ=255) ataCCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCATATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACag < 4:269953/148‑1 (MQ=255) ttgattgTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATaa > 3:164570/1‑148 (MQ=255) ttgattgTGAGAAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGA‑TAAAAAAAAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATaa < 4:27870/148‑1 (MQ=255) attgTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACCGAGAATAACCa < 4:333843/148‑1 (MQ=255) gAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAgaga > 3:154726/1‑148 (MQ=255) aCAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGtttt > 4:337733/1‑148 (MQ=255) gaagCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTAAGAG‑CAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATc < 4:41820/148‑1 (MQ=255) gCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTG‑CAAAAAAAAATAAAGTAATACATTAATTCGAACAACAAAAAATCGAATATGAACAAAGACAAAACACAGAGAAAAACCAAGAAAAGACGattt > 2:53862/1‑141 (MQ=255) tttAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTgaaga < 3:246268/148‑1 (MQ=255) tttAAAGACCGTATATCAATGCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTgaaga < 3:127817/148‑1 (MQ=255) aaGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGt < 3:190691/148‑1 (MQ=255) tataTTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGt < 1:27614/141‑1 (MQ=255) tataTTAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTa < 4:396908/148‑1 (MQ=255) tAATTCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCa < 4:59827/148‑1 (MQ=255) ttCCTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCAttt < 3:284519/148‑1 (MQ=255) atCCTAAAAATAACTAGGAATATGAGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAAAAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCAttt < 4:2264/147‑1 (MQ=255) cTAAAAATAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATg < 4:154354/148‑1 (MQ=255) aaaaaTAACTTGGATTATGTGCC‑AAAAAAAATAAAGTATTGCATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAACACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGga > 3:216915/1‑148 (MQ=255) cTTGGATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATc > 3:81988/1‑148 (MQ=255) ggATTATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCaaa > 3:152162/1‑148 (MQ=255) ttATGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAAAACg < 4:364009/148‑1 (MQ=255) aTGTGCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCa < 2:51984/141‑1 (MQ=255) gtgCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCATAACGAAga > 3:105874/1‑148 (MQ=255) gtgCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAAAACGATga > 3:153487/1‑148 (MQ=255) gtgCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAAAACGATga > 4:47705/1‑148 (MQ=255) gtgCC‑AAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAAAACGATga < 3:114620/148‑1 (MQ=255) | AGACGTAAATGTTCATCCAACAAAACTAGAAGTGCGTTTATCAAAAGAAGAGCAACTATACCAATTGATTGTGAGCAAAATACAAGAAGCATTTAAAGACCGTATATTAATTCCTAAAAATAACTTGGATTATGTGCCAAAAAAAAATAAAGTATTACATTCATTCGAACAACAAAAAATCGAATTTGAACAAAGACAAAACACAGAGAATAACCAAGAGAAGACGTTTTCATCTGAAGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAAAACGATGA > USA300TCH1516_ALE/1324110‑1324391 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |