Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913 | 3,717,476 | T→C | V56A (GTA→GCA) | ghrB → | glyoxylate/hydroxypyruvate reductase B |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913 | 3,717,476 | 0 | T | C | 97.5% | 144.3 / ‑3.7 | 40 | V56A (GTA→GCA) | ghrB | glyoxylate/hydroxypyruvate reductase B |
Reads supporting (aligned to +/- strand): ref base T (1/0); new base C (18/21); total (19/21) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.75e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.31e-01 |
AAAGCCTTACCTGATGATTTACTGCAACGCCTGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGTAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGAAAAATTCTGCTGATGCACACGCCAACCGTATTAACAGAAACCGTCGCC > NC_000913/3717334‑3717621 | aaaGCCTTACCTGATGATTTACTGCAACGCCTGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCg < 2:583225/151‑1 (MQ=255) aaGCCTTACCTGATGATTTACTGCAACGCCTGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGc < 2:315596/151‑1 (MQ=255) aGCCTTACCTGATGATTTACTGCAACGCCTGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCa < 1:528378/151‑1 (MQ=255) gCCTTACCTGATGATTTACTGCAACGCCTGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCAt > 1:250350/1‑151 (MQ=255) ccTGATGATTTACTGCAACGCCTGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTgg < 2:287459/151‑1 (MQ=255) tgatgaTTTACTGCAACGCCTGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGa > 1:97765/1‑150 (MQ=255) gatgatTTACTGCAACGCCTGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGaaa < 2:343319/151‑1 (MQ=255) gCCTGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGTAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCg > 2:37588/1‑151 (MQ=255) ccTGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGt < 2:307003/151‑1 (MQ=255) ccTGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGt < 2:532212/151‑1 (MQ=255) tGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGa < 1:305068/141‑1 (MQ=255) tGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGa > 2:305070/1‑141 (MQ=255) cAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGcc > 1:164114/1‑150 (MQ=255) agagCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCcac > 1:263631/1‑150 (MQ=255) agCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATc > 2:57669/1‑151 (MQ=255) cATTTCACCGTTCACCAGGTGGCATACCTCAGCCCACAAACCGTCGAACAAAACGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATc > 1:565705/1‑149 (MQ=255) tCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGa < 1:405548/150‑1 (MQ=255) gTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCg > 1:440626/1‑151 (MQ=255) tCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGt < 2:190405/150‑1 (MQ=255) cAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCt > 1:590960/1‑151 (MQ=255) ccTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAAtttt > 1:639396/1‑151 (MQ=255) tCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTg > 1:618465/1‑150 (MQ=255) aaaCCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATgc < 1:334444/151‑1 (MQ=255) cGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTAc < 1:546994/150‑1 (MQ=255) cGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCGCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTAc < 1:235601/150‑1 (MQ=255) aaCAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGc < 2:402350/151‑1 (MQ=255) aaaaTGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCg < 2:129576/151‑1 (MQ=255) aTGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGaaa < 2:177773/151‑1 (MQ=255) tGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGaaa > 1:630902/1‑150 (MQ=255) agcaATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGAAAAAtt > 1:182300/1‑151 (MQ=255) gcaATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGAAAAATTc > 2:414612/1‑151 (MQ=255) ttttGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGAAAAATTctgct < 2:114106/150‑1 (MQ=255) aGGTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGAAAAATTCTGCTGATGCACACGCCAAcc < 2:473664/151‑1 (MQ=255) gTTTACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGAAAAATTCTGCTGATGCACACGCCAACCGt < 2:519386/151‑1 (MQ=255) ttACTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGACAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGAAAAATTCTGCTGATGCACACGCCAACCGTAt > 2:539739/1‑151 (MQ=255) aCTGGGTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGAAAAATTCTGCTGATGCACACGCCAACCGTAtt < 1:522909/150‑1 (MQ=255) gTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGaaa > 2:523130/1‑115 (MQ=255) gTTCAAACGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGaaa < 1:523127/115‑1 (MQ=255) aaCGAGAATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGAAAAATTCTGCTGATGCACACGCCAACCGTATTAACAGAAACCg > 2:145023/1‑151 (MQ=255) gaATGCAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGAAAAATTCTGCTGATGCACACGCCAACCGTATTAACAGAAACCGTCGcc > 1:628940/1‑151 (MQ=255) | AAAGCCTTACCTGATGATTTACTGCAACGCCTGCAAGAGCATTTCACCGTTCACCAGGTGGCAAACCTCAGCCCACAAACCGTCGAACAAAATGCAGCAATTTTTGCCGAAGCTGAAGGTTTACTGGGTTCAAACGAGAATGTAAATGCCGCATTGCTGGAAAAAATGCCGAAACTGCGTGCCACATCAACGATCTCCGTCGGCTATGACAATTTTGATGTCGATGCGCTTACCGCCCGAAAAATTCTGCTGATGCACACGCCAACCGTATTAACAGAAACCGTCGCC > NC_000913/3717334‑3717621 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 30 ≤ ATCG/ATCG < 34 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |