Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | REL606 | 176,608 | C→T | A373T (GCC→ACC) | hemL ← | glutamate‑1‑semialdehyde aminotransferase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | REL606 | 176,608 | 0 | C | T | 94.7% | 126.7 / ‑4.0 | 38 | A373T (GCC→ACC) | hemL | glutamate‑1‑semialdehyde aminotransferase |
Reads supporting (aligned to +/- strand): ref base C (2/0); new base T (16/20); total (18/20) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 2.18e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
ACGGTGCCAGGTAAACACCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGCCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAGAAAATACCGAACATGCCGCCAACGTGGTT > REL606/176539‑176680 | aCGGTGCCAGGTAAACCCCTTCGTCCCGCATCATATGGAAGAAACGCTTAATGCGTTACACGTCACAGGTCATcac > 1:1143810/1‑76 (MQ=255) aCGGTGCCAGGTAAACACCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATcac < 2:240894/76‑1 (MQ=255) aCGGTGCCAGGTAAACACCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATcac > 2:212877/1‑76 (MQ=255) aCGGTGCCAGGTAAACACCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGCCATcac > 2:1172909/1‑76 (MQ=255) gCCAGGTAAACACCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCt < 1:1076470/76‑1 (MQ=255) cAGGTAAACACCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGa < 1:1004064/76‑1 (MQ=255) cAGGTAAACACCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGa > 2:371028/1‑76 (MQ=255) aGGTAAACACCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGAt < 1:180906/76‑1 (MQ=255) aGGTAAACACCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGAt > 2:520084/1‑76 (MQ=255) ggTAAACACCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATa > 2:510144/1‑76 (MQ=255) ggTAAACACCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATa < 1:290849/76‑1 (MQ=255) aaaCACCTTCGTCCAGCATCATATGGAAGAAACGCTCAAAGCGTTCCACGTCACAGGCCATCACATCNTGATAGCa > 1:1057354/1‑76 (MQ=255) acacCTTCGTCCCGCATCATATGGAAGAAACGNTTCAAGCGNTCCACGTCACAGGTCATCANATCCTGATAGCACg > 2:996581/1‑76 (MQ=255) acCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTc < 1:740885/76‑1 (MQ=255) acCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTc > 1:585556/1‑76 (MQ=255) tCGTCCAGCATCATATGGAAGAAACGCTNAAAGCGTTCTTCATCACACGTCATCACATCCTGATAGCACGTCACgg < 1:114587/76‑1 (MQ=255) cGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGa < 1:919889/76‑1 (MQ=255) acccAGCACAATATGGAAGAAACGCNTAAAGCGTTCCACGNCACAGCTCATNANATCCTGATAGCACGTCACGGAc > 2:21902/3‑76 (MQ=255) aGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCgg > 1:183603/1‑76 (MQ=255) aGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCgg < 1:846756/76‑1 (MQ=255) atatGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCgg > 2:393417/1‑76 (MQ=255) atatGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCgg < 2:845749/76‑1 (MQ=255) tGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTaa < 1:391459/76‑1 (MQ=255) tGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTaa > 2:914057/1‑76 (MQ=255) tGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTaa > 2:776711/1‑76 (MQ=255) ggAAGAAACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCTCGGACTCGGCGTCGGTaaa < 1:231255/76‑1 (MQ=255) gaagaaACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAg < 2:946304/76‑1 (MQ=255) aagaaACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCCCGTCACGGACTCGGCGTCGGTAAAGa < 2:677289/76‑1 (MQ=255) agaaACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCTCGTCACGGACTCGGCGTCGGTAAAGaa < 2:974821/76‑1 (MQ=255) agaaACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAGaa < 1:495608/76‑1 (MQ=255) gaaACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAGaaa < 1:701012/76‑1 (MQ=255) gaaACGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAGaaa < 1:754031/76‑1 (MQ=255) aaaCGCTTAAAGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAGaaaa > 2:898590/1‑76 (MQ=255) ttAAAGCGCTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAGAAAATACCGa > 2:234742/1‑76 (MQ=255) aaaGCGTTCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAGAAAATACCGAAc < 2:36018/76‑1 (MQ=255) ttCCACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAGAAAATACCGAACATgccg > 2:129679/1‑76 (MQ=255) ccACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAGAAAATACCGAACATgccgcc < 1:270895/76‑1 (MQ=255) cACGTCACAGGTCATCACATCCTGATAGCACGTNACGGACTCGGCGTCGGTAAAGANAATACCGAGCNTGCCGCCa > 2:1005760/1‑76 (MQ=255) cACGTCACAGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAGAAAATACCGAACATGCCGCCa > 2:660353/1‑76 (MQ=255) aGGTCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAGAAAATACCGAACATGCCGCCAACGTGGtt < 2:280742/76‑1 (MQ=255) | ACGGTGCCAGGTAAACACCTTCGTCCAGCATCATATGGAAGAAACGCTTAAAGCGTTCCACGTCACAGGCCATCACATCCTGATAGCACGTCACGGACTCGGCGTCGGTAAAGAAAATACCGAACATGCCGCCAACGTGGTT > REL606/176539‑176680 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 28 ≤ ATCG/ATCG < 34 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |