Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913 | 4,342,193 | A→G | T95A (ACG→GCG) | melA → | alpha‑galactosidase, NAD(P)‑binding |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913 | 4,342,193 | 0 | A | G | 97.5% | 122.7 / NA | 40 | T95A (ACG→GCG) | melA | alpha‑galactosidase, NAD(P)‑binding |
Reads supporting (aligned to +/- strand): ref base A (0/0); major base G (19/20); minor base T (1/0); total (20/20) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.39e-01 |
GGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGAAG > NC_000913/4342048‑4342328 | ggAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAAGCTTGCGCgggg > 1:202589/1‑149 (MQ=255) ggAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTTCGCgggg > 2:452532/1‑149 (MQ=255) ggAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCgg < 1:452527/149‑1 (MQ=255) gCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAAACTTGCGCGGGGACTGAttt > 1:593880/1‑150 (MQ=255) tatTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAAACTTGCGCGGTGAATGAt > 1:472966/1‑145 (MQ=255) ttGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAgg < 1:100332/150‑1 (MQ=255) tgtgGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGt < 2:598622/150‑1 (MQ=255) gCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTaa < 2:115111/150‑1 (MQ=255) gTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCg < 1:587365/151‑1 (MQ=255) aGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTTCGCGGGGACTGATTTTGAGGTCTGTAAGCgg > 2:570176/1‑149 (MQ=255) aTGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTc < 1:607548/151‑1 (MQ=255) aTTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTgg < 1:63189/150‑1 (MQ=255) cagGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGGGACTGATTTCGAGGTATGTAAGGGGGAAGGGCTGGAACaaa > 2:645328/1‑150 (MQ=255) aGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTTCGCGGGGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCa > 1:643092/1‑145 (MQ=255) ggCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATa < 1:324632/151‑1 (MQ=255) ggCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGGCTGTAAGCGGCATGGGCTGGGACAAAACCTTGcc > 2:24495/1‑147 (MQ=255) gCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGGGACTGATTTCGAGGGCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGAt > 2:420044/1‑149 (MQ=255) cACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTggg < 1:501568/150‑1 (MQ=255) gCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCgg < 1:289694/150‑1 (MQ=255) gCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCgg < 2:204845/150‑1 (MQ=255) cAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGTGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAGCCATTGCCGATACGTTGGGGCCGGGCGGtattat < 1:303796/149‑1 (MQ=255) agaaagaaGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATgcg < 1:577518/151‑1 (MQ=255) agaaagaaGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCCTGCGCGGTGACTGATTTCGGGGTCTGTAAGCGGCATGGGCTGGGACAAAACATTGCCGATACGTTGGGGCCGGGGGGgattat > 2:278308/1‑148 (MQ=255) aagaagCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATTAACCTTGCGCGGGGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAAACATTGCCGATACGTTGGGGCCGGGCGGTATTATgcgcg > 2:559797/1‑150 (MQ=255) gaagCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATTAAACCTGTGCGGGGGCTGGTTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCAATGCCGGTAAGTTGGGGCCGGGCGGGATTATgcgcgc > 1:263942/1‑149 (MQ=255) gCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTAc < 2:384470/151‑1 (MQ=255) ccTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAAACCTGCGCGGGGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGGCGGGCGGTATTATGCGCGCGCTAc > 2:86623/1‑150 (MQ=255) cTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAAACTTGCGCGGGGGCTGGTTTTGAGGTCTGTAAGCGGCATGGTCTGGAAAAAACCATTGCCGATAAGTTGGGGCCGGGGGGGATTATGGGCGCGCTAc > 1:571824/1‑149 (MQ=255) agagGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTAc < 1:492082/150‑1 (MQ=255) gCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTTTGAACCTTTCTCGGTGACCGGTTTCTCGGTCTGTAAGGGGCATGGTCTGGAACAAACCACTTCCCATACGTTGGGGCCGGGGGGGATTATGCCGGCGCTACGCAcc > 1:56540/1‑144 (MQ=255) tttGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCtg < 2:530705/150‑1 (MQ=255) ggtggCATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCa < 2:279845/138‑1 (MQ=255) ggtggCATTTCAGATTGGCGGTTATGAAACTTGCGCGGGGACTGATTTTGAGGTCTGTAAGCGGCATGGTCTGGAACAAAACATTGCCGATACGGTGGGGGCGGGGGGGATTATGCGCGCGCTACGTACCATTTCGc > 1:279846/1‑137 (MQ=255) gtggCATTTCAGATTGGCGGTTATGAAACTTGCGCGGGGAATGATTTTGAGGTCTGTAAGCGGCAAGGTCTGGAAAAAACCATTGCCGATAAGTTGGGGCCGGGCGGGATTATGCGCCCGCTACGTACCATTCCCCATCTGTGGCAAAttt > 2:148905/1‑151 (MQ=255) cATTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGa < 2:76722/151‑1 (MQ=255) aTTTCAGATTGGCGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAg < 2:339855/151‑1 (MQ=255) cGGTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGa > 2:340496/1‑150 (MQ=255) ggTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGa > 2:54336/1‑149 (MQ=255) ggTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGa > 2:172092/1‑149 (MQ=255) ggTTATGAACCTTGCGCGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGAAg < 1:232514/151‑1 (MQ=255) | GGAAGAGTCGCATATTGTGGTGCGTAAGCTGATGGATTCAGCAGGGGCCAGCGGCAAAATCACCTGCCACACCCAACAGAAAGAAGCCTTAGAGGATGCCGATTTTGTCGTGGTGGCATTTCAGATTGGCGGTTATGAACCTTGCACGGTGACTGATTTCGAGGTCTGTAAGCGGCATGGTCTGGAACAAACCATTGCCGATACGTTGGGGCCGGGCGGTATTATGCGCGCGCTACGTACCATTCCGCATCTGTGGCAAATTTGCGAGGACATGACGGAAG > NC_000913/4342048‑4342328 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 18 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |