| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | ACB143 | 5,345,373 | A→T | 51.3% | L688Q (CTG→CAG) | pnp ← | Polyribonucleotide nucleotidyltransferase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | ACB143 | 5,345,373 | 0 | A | T | 51.3% | ‑6.4 / 54.7 | 39 | L688Q (CTG→CAG) | pnp | Polyribonucleotide nucleotidyltransferase |
| Reads supporting (aligned to +/- strand): ref base A (15/4); new base T (7/13); total (22/17) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 9.53e-03 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 4.78e-01 | |||||||||||
GCAAGATGCAAGTCCGCAAAAGGTTCCCGTCCCCATGAAAAAAGGGCCCTGCGAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTCCTGGCCTTCCTTGAGGATGTCGGTGACTTTCTCGACGCGAGCATCGCTCAGCATGGAGATGTGCACCAAACCGTCCTTGCC > ACB143/5345246‑5345503 | gcaagatgcaagTCCGCAAAAGGTTCCCGTCCCCATGAAAAAAGGGCCCTGCGAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTTATCGACTGCTTGAt > 3:39049/1‑135 (MQ=255) aagatgcaagTCCGCAAAAGGTTCCCGTCCCCATGAAAAAAGGGCCCTGCGAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACTCACGAGGCCTTGGCCGCAGGGACGTCTTTGCTAGACAGCTTGATACg > 4:172290/1‑136 (MQ=255) cccaaaaaGGGTCCCCGCCCCCTTAAAAACGGGGCCGGGTTCGGGCCCTTTTCTATTTTGCGTGAGGTTCGCTTAGACGCCCGAGGCGTTGGCCGCTGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTg < 6:15178/132‑1 (MQ=255) ccGCAAAAGGTGCCCGTCCCCATTAAAAAAGGGCCCTGCGAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTg < 6:276943/135‑1 (MQ=255) gCAAAAGGTTCCCGTCCGCATGAAAAAAGGGCCCTGCGAAGGGCCG‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTcc < 2:76813/136‑1 (MQ=255) aaaaGGTTCCCGTCCCCATGAAAAAAGGGCCCTGCGAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGGTGTTCaa > 7:236661/1‑135 (MQ=255) aaGGTTCCCGTCCCCATGAAAAAAGGGCCCTGCGAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTCCCCGt > 1:63032/1‑136 (MQ=255) aaGGTTCCCGTCCCCATGAAAAAAGGGCCCTGCGAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCAcct > 3:88838/1‑134 (MQ=255) aaGGTTCCCGTCCCCATGAAAAAAGGGCCCTGCGAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATAGACAGCTTGATACGGCCGCGGTTGTCCACGt > 1:92039/1‑136 (MQ=255) cccGTCCCCATGAAAAAAGGGCCCTGCGAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGt < 2:41287/135‑1 (MQ=255) cccGCCCCAATCAAAAAGGGGCCCGGCGACGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTCCACGTCCAGt < 5:96210/135‑1 (MQ=255) ccGTCCCCATTAAAAACGGGCCCTGCGAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTCCACGTCCAGTAc < 8:196596/136‑1 (MQ=255) gggCCCTGCGAAGGGCAC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTCCt < 5:75935/136‑1 (MQ=255) gAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTCCTGGccttcct < 5:134900/136‑1 (MQ=255) gAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGATTGATACGGCCGCGGTTTTGCACGTCCCGGACCATCACTTAAACATACAGGgcttcct > 4:218958/1‑136 (MQ=255) aGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGGTGTCCACGTCCAGTAggggtcatgccgagataaggcaaaaatta < 7:46808‑M2/136‑30 (MQ=255) ctctATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTCCTGGCCTTCCTTGAGGATGTCgg > 7:151064/1‑136 (MQ=255) ctctATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTACTGGCCTTCCTTGAGGATGTAgg > 6:284684/1‑136 (MQ=255) tATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGTAggggtcatgccgagataaggcaaaaattaggacattcgt > 1:179534‑M2/1‑94 (MQ=255) ttGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGTAggggtcatgccgagataaggcaaaaattaggacattcgttctct > 6:290740‑M2/1‑92 (MQ=255) ttGCGTGACGTTCGCATAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGTAggggtcatgccgagataaggcaaaaattaggacattcgttct > 8:204249‑M2/1‑92 (MQ=255) tGCGTGACGTTCGCTTACACGCCCGAGGCCTTGGCCGATGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCATTAggggtcatgccgagataaggcaaaaattaggacattcgttctct > 8:251688‑M2/1‑91 (MQ=255) gACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGCCAGCTTGATACGGCCGCGGGTGTCCACGTCCAGTAggggtcatgccgagataaggcaaaaattaggacattcgttctctaagcta < 8:62086‑M2/136‑51 (MQ=255) tCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTGCACGTCCAGTACAAGCACTTCAACTTCCTGGCCTTCCTTGAGGATGTCGGTGACTTTCTCGAcgcg > 8:225870/1‑136 (MQ=255) gCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTCCTGGCCTTCCTTGAGGATGTCGGTGACTTTCTCGACGCGa < 4:263249/135‑1 (MQ=255) gCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTCCTGGCCTTCCTTGAGGATGTCGGTGACTTTCTCGACGCGa < 8:43630/135‑1 (MQ=255) cgaCGCCCGTGGCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGTAggggtcatgccgagataaggcaaaaattaggacattcgttctctaagctattgtattta > 4:14935‑M2/2‑75 (MQ=255) gACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTCCTGGCCTTCCTTGAGGATGTCGGTGACTTTCTCGACGCGAGCATc < 7:83139/135‑1 (MQ=255) gACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTCCTGGCCTTCCTTGAGGATGTCGGTGACTTTCTCGACGCGAGCATc < 1:25266/135‑1 (MQ=255) gACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCGTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTCCTGGCCTTCCTTGAGGATGTCGGTGACTTTCTCGACGCGAGCATc < 2:19345/135‑1 (MQ=255) aCGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGTAggggtcatgccgagataaggcaaaaattaggacattcgttctctaagctattgtatttaaacg > 4:170633‑M2/1‑73 (MQ=255) cccGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACTGCTTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTCCTGGCCTTCCTTGAGGATGTCGGTGACTTTCTCGACGCGAGCATCGCTCa < 2:245835/136‑1 (MQ=255) ggCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGTAggggtcatgccgagataaggcaaaaattaggacattcgttctctaagctattgtatttaaacgagtagat > 8:85426‑M2/1‑65 (MQ=255) ggCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGTAggggtcatgccgagataaggcaaaaattaggacattcgttctctaagctattgtatttaaacgagtagattagaa > 1:76151‑M2/1‑59 (MQ=255) ccGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGTAggggtcatgccgagataaggcaaaaattaggacattcgttctctaagctattgtatttaaacgagtagattagaagccc > 3:206571‑M2/1‑57 (MQ=255) gggACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGTAggggtcatgccgagataaggcaaaaattaggacattcgttctctaagctattgtatttaaacgagtagattagaagccctgctc > 5:206031‑M2/1‑52 (MQ=255) cGTCTTTGATCGACTGCTTGATACGGCCGCGGTGGTCCACGTCCAGTACAAGCACTTGAACTTCCTGGCCTTCCTTGAGGATGTCGGTGACTTTCTCGACGCGAGCATCGCTCAGCATGGAGAATTGCACCaaaac > 3:274835/1‑134 (MQ=255) aTCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGTAggggtcatgccgagataaggcaaaaattaggacattcgttctctaagctattgtatttaaacgagtagattagaagccctgctcagcaaagactg > 4:88838‑M2/1‑40 (MQ=255) tCGACTGCTTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTCCTGGCCTTCCTTGAGGATGTCGGTGACTTTCTCGACGCGAGCATCGCTCAGCATGGAGATGTGCACCAAACCGTCCTTGcc < 7:131273/136‑1 (MQ=255) | GCAAGATGCAAGTCCGCAAAAGGTTCCCGTCCCCATGAAAAAAGGGCCCTGCGAAGGGCCC‑TTTCTCTATTGCGTGACGTTCGCTTAGACGCCCGAGGCCTTGGCCGCAGGGACGTCTTTGATCGACAGCTTGATACGGCCGCGGTTGTCCACGTCCAGTACAAGCACTTCAACTTCCTGGCCTTCCTTGAGGATGTCGGTGACTTTCTCGACGCGAGCATCGCTCAGCATGGAGATGTGCACCAAACCGTCCTTGCC > ACB143/5345246‑5345503 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |