Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | AM260479 | 582,589 | T→G | H295Q (CAT→CAG) | h16_A0555 → | zinc metalloprotease |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | AM260479 | 582,589 | 0 | T | G | 96.7% | 106.2 / ‑3.7 | 30 | H295Q (CAT→CAG) | h16_A0555 | zinc metalloprotease |
Reads supporting (aligned to +/- strand): ref base T (0/0); major base G (14/15); minor base A (0/1); total (14/16) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.57e-01 |
GCCATGGGCGGGCAGGGCGCGGCCATCGCCAACCAGCTGTCGTTCTCGCGCGGGGCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCATGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGACTCACCCGCTGACCTCCGAGCGGATTGCCGACATGC > AM260479/582473‑582701 | gCCATGGGCGGGCAGGGCGCGGCCATCGCCAACCAGCTGTCGTTCTCGCGCGGGGCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATttctt < 1:317369/134‑1 (MQ=255) gggcAGGGCGCGGCCATCGCCAACCAGCTGTCGTTCTCGCGCGGGGCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCt > 2:832264/1‑134 (MQ=255) gggcAGGGCGCGGCCATCGCCAACCAGCTGTCGTTCTCGCGCGGGGCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCt > 2:395674/1‑134 (MQ=255) ggcAGGGCGCGGCCATCGCCAACCAGCTGTCGTTCTCGCGCGGGGCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTg < 1:395674/134‑1 (MQ=255) cAGGGCGCGGCCATCGCCAACCAGCTGTCGTTCTCGCGCGGGGCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAAGGCATGCCCGATTCCTTCATGCGGCTGCa < 1:991608/134‑1 (MQ=255) gCCATCGCCAACCAGCTGTCGTTCTCGCGCGGGGCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATc > 1:206762/1‑134 (MQ=255) gCCATCGCCAACCAGCTGTCGTTCTCGCGCGGGGCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATc > 2:482480/1‑134 (MQ=255) tCGTTCTCGCGCGGGGCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCGTGCCCGATTTCTTCATGCg > 1:802790/1‑101 (MQ=255) tCGTTCTCGCGCGGGGCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCg < 2:802790/101‑1 (MQ=255) ggCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATttc > 1:231977/1‑79 (MQ=255) ggCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATttc < 2:231977/79‑1 (MQ=255) gAGCGCGAGTCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCg > 2:237673/1‑134 (MQ=255) cgAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGACt > 1:541442/1‑133 (MQ=255) ggTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCg < 2:1005959/100‑1 (MQ=255) ggTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCg > 1:1005959/1‑100 (MQ=255) gCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCa > 1:50380/1‑67 (MQ=255) gCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCa < 2:50380/67‑1 (MQ=255) cTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGACTCACCCGCTGACCTCCGAGc > 2:473462/1‑134 (MQ=255) cAGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGACTCACCCGCTGACCTCCGAGCGGa < 2:240315/133‑1 (MQ=255) aGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGACTCACCCGCTGACCTCCGAGCGGAtt < 2:534259/134‑1 (MQ=255) aGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGACTCACCCGCTGACCTCCGAGCGGAtt < 2:541442/134‑1 (MQ=255) aGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGACTCACCCGCTGACCTCCGAGCGGAtt < 2:206762/134‑1 (MQ=255) aGATCCTGACCGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGACTCACCCGCTGACCTCCGAGCGGAtt < 1:473462/134‑1 (MQ=255) ccGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGACTCACCCGCTGACCTCCGAGCGGAtt < 2:253008/125‑1 (MQ=255) ccGCGGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGACTCACCCGCTGACCTCCGAGCGGAtt > 1:253008/1‑125 (MQ=255) cgcgGCGGGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGACTCACCCGCTGACCTCCGAGCGGATTGCCGACATGc < 1:832264/134‑1 (MQ=255) cggcggGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGaa > 1:881054/1‑71 (MQ=255) cggcggGGTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGaa < 2:881054/71‑1 (MQ=255) ggTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGAc > 1:584942/1‑91 (MQ=255) ggTTTGACCCGCAGGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGAc < 2:584942/91‑1 (MQ=255) | GCCATGGGCGGGCAGGGCGCGGCCATCGCCAACCAGCTGTCGTTCTCGCGCGGGGCCGAGCGCGAGGCCGACCGGGTCGGCTTCCAGATCCTGACCGCGGCGGGGTTTGACCCGCATGGCATGCCCGATTTCTTCATGCGGCTGCAGCGCGCATCGGGGACCGCGGAAAATTCGGTCCCGTCTTATGTGCGGACTCACCCGCTGACCTCCGAGCGGATTGCCGACATGC > AM260479/582473‑582701 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 35 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |