Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913 | 2,236,037 | G→A | G258D (GGT→GAT) | preA → | dihydropyrimidine dehydrogenase, NADH‑dependent, subunit C |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913 | 2,236,037 | 0 | G | A | 98.0% | 188.1 / ‑4.2 | 51 | G258D (GGT→GAT) | preA | dihydropyrimidine dehydrogenase, NADH‑dependent, subunit C |
Reads supporting (aligned to +/- strand): ref base G (1/0); new base A (26/24); total (27/24) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.18e-01 |
TCGATCTTAATCAGAAAATCGGTATGCCGATCGTTAACGGAAAATCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGGTATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATGGCAAGCGGGTTGTCGCATTATCTCGCCGATC > NC_000913/2235890‑2236183 | tCGATCTTAATCAGAAAATCGGTATGCCGATCGTTAACGGAAAATCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGatat > 2:388289/1‑151 (MQ=255) cGATCTTAATCAGAAAATCGGTATGCCGATCGTTAACGGAAAATCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATc > 1:504553/1‑151 (MQ=255) gATCTTAATCAGAAAATCGGTATGCCGATCGTTAACGGAAAATCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATcg > 2:358397/1‑151 (MQ=255) aTCTTAATCAGAAAATCGGTATGCCGATCGTTAACGGAAAATCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATcgg > 1:611847/1‑151 (MQ=255) tAATCAGAAAATCGGTATGCCGATCGTTAACGGAAAATCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATcggcg < 1:133197/149‑1 (MQ=255) aTGCCGATCGTTAACGGAAAATCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGggag < 1:567354/150‑1 (MQ=255) ccGATCGTTAACGGAAAATCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATg > 1:296676/1‑151 (MQ=255) gATCGTTAACGGAAAATCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGCTGCg > 2:267109/1‑151 (MQ=255) cGTTAACGGAAAATCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGc < 2:231825/150‑1 (MQ=255) aaCGGAAAATCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGt > 1:404364/1‑151 (MQ=255) aaaaTCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTa < 1:776793/151‑1 (MQ=255) tATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGGTATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGgc > 2:345118/1‑151 (MQ=255) aTTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGgc < 2:98696/150‑1 (MQ=255) atTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGtt < 2:678579/151‑1 (MQ=255) ccGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACa < 2:282001/151‑1 (MQ=255) cGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTAc > 1:593304/1‑149 (MQ=255) aGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGacc > 2:235473/1‑151 (MQ=255) gCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGacc > 1:72678/1‑150 (MQ=255) cGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGaccac > 2:449930/1‑151 (MQ=255) cGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGaccac > 1:523717/1‑151 (MQ=255) cGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGcatcat > 1:738866/1‑151 (MQ=255) gATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATg > 1:436414/1‑151 (MQ=255) cccTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGCTGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAg > 1:503113/1‑149 (MQ=255) cccTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACTGGCATCATGCAGTa < 2:757210/151‑1 (MQ=255) cagcgcTTCATTCAGCAAATGCGCACCCATCCAGAACGGCGCGATTTGCCAATCGGCGAGATCGGCGGCATTGAAACCTGGGAGAAGGCGGCTAAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCCTCATGCATTACg < 1:479760/149‑1 (MQ=255) gcTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTa < 2:576598/151‑1 (MQ=255) ttcattcaGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCCTTGCAACCTGGGAGGATGCGGCTGAGCTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATc > 1:413018/1‑151 (MQ=255) tcattcaGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCg > 2:332202/1‑151 (MQ=255) tcattcaGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGAAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTCACAGGTGACCACCGGCATCATGCAGTACGGGTAt < 1:14933/149‑1 (MQ=255) tcaGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGAt > 1:616551/1‑150 (MQ=255) tcaGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGCATCGGAt > 2:693731/1‑150 (MQ=255) caGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAg < 1:3620/151‑1 (MQ=255) aGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGt > 2:443656/1‑151 (MQ=255) aaaTGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTgg > 1:666836/1‑150 (MQ=255) aaaTGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGa < 2:657585/151‑1 (MQ=255) gcgcACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGa < 2:569304/150‑1 (MQ=255) gcACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGatat < 2:703318/151‑1 (MQ=255) cACCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATg < 1:533332/151‑1 (MQ=255) aCCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATgg < 2:40548/151‑1 (MQ=255) aCCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATgg < 2:139042/151‑1 (MQ=255) aCCCATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATgg > 2:175396/1‑151 (MQ=255) cccATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATGGc > 2:372070/1‑151 (MQ=255) cccATCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAATGGAAGATATgg < 2:487117/150‑1 (MQ=255) tCCAGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATGGCAAg > 2:617820/1‑150 (MQ=255) aGAACTGCGCGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATGGCAAACggg > 1:3360/1‑151 (MQ=255) gcgcGATTTCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATGGCAAGCGGGTTGTCg < 2:678466/151‑1 (MQ=255) ttCCCAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATGGCAAGCGGGTTGTCGCATTAt < 1:44595/150‑1 (MQ=255) cccAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATGGCAAGCGGGTTGTCGCATTAtctc < 2:81669/151‑1 (MQ=255) ccAATCAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGGTACAGGAGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATCTGGCAAGCGGGTTGTCGCATTAtctc > 1:259411/1‑150 (MQ=255) cAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATGGCAAGCGGGTTGTCGCATTATCTCGCCGAt > 2:195364/1‑151 (MQ=255) cAGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATGGCAAGCGGGTTGTCGCATTATCTCGCCGAt < 2:203462/151‑1 (MQ=255) aGCGATATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATGGCAAGCGGGTTGTCGCATTATCTCGCCGATc < 1:319487/151‑1 (MQ=255) | TCGATCTTAATCAGAAAATCGGTATGCCGATCGTTAACGGAAAATCGAGTATTTCCGGATATTCCGGTAAAGCGGTAAAACCGATCGCCCTGCGCTTCATTCAGCAAATGCGCACCCATCCAGAACTGCGCGATTTCCCAATCAGCGGTATCGGCGGCATTGAAACCTGGGAGGATGCGGCTGAGTTTTTATTGCTCGGCGCAGCAACGTTACAGGTGACCACCGGCATCATGCAGTACGGGTATCGGATAGTGGAAGATATGGCAAGCGGGTTGTCGCATTATCTCGCCGATC > NC_000913/2235890‑2236183 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |