Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 5,566,467 | T→A | 13.3% | Q357L (CAG→CTG) | mutL ← | DNA mismatch repair protein MutL |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 5,566,467 | 0 | T | A | 13.3% | 78.5 / 5.6 | 30 | Q357L (CAG→CTG) | mutL | DNA mismatch repair protein MutL |
Reads supporting (aligned to +/- strand): ref base T (14/12); new base A (2/2); total (16/14) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.05e-01 |
AGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCTTGGTTGGG > NC_002947/5566330‑5566616 | aGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACCCACCGGCCAGCAGGCCGGTgagtt < 1:241354/150‑5 (MQ=255) aCGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAAc > 2:258833/1‑150 (MQ=255) aCGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAAc < 2:718098/150‑1 (MQ=255) aTTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGACCTGCTGGCCGGTGGGGTGAACCAGCTCCGGTa > 2:386048/1‑150 (MQ=255) ttGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTAc < 2:550071/150‑1 (MQ=255) ttGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTAc < 1:258833/150‑1 (MQ=255) aCTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTgggg < 1:248269/128‑1 (MQ=255) aCTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTgggg > 2:248269/1‑128 (MQ=255) gcTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTg > 2:343572/1‑150 (MQ=255) ccaTTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAGACGTGGGGGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCCCCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTcc < 1:606945/150‑1 (MQ=255) caTTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCg > 2:274201/1‑150 (MQ=255) ttGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGa > 1:37748/1‑150 (MQ=255) gCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAgg < 1:675694/150‑1 (MQ=255) ggggCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCGAAGGCa > 1:435649/1‑150 (MQ=255) gTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACg > 2:253027/1‑139 (MQ=255) gTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACg < 1:253027/139‑1 (MQ=255) gTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGc < 2:37748/150‑1 (MQ=255) tCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCa < 1:186003/150‑1 (MQ=255) aaGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATa > 2:557438/1‑150 (MQ=255) aaGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGCCACGGTGCAAGGTGCCATa > 2:124423/1‑150 (MQ=255) gCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACa < 1:274201/150‑1 (MQ=255) cAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCAc > 1:603485/1‑150 (MQ=255) cgcATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAg > 1:84325/1‑150 (MQ=255) cGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTa < 1:124423/150‑1 (MQ=255) aaCTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACt > 1:432927/1‑150 (MQ=255) ccACCGGCCAGCAGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCaa > 1:326042/2‑98 (MQ=255) ccACCGGCCAGCAGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCaa < 2:326042/97‑1 (MQ=255) cACCGGCCAGCAGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGAAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCAt > 1:222344/1‑150 (MQ=255) aCCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGCGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATg < 1:161425/150‑1 (MQ=255) gCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCttg > 2:74604/1‑150 (MQ=255) tgctgGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACt > 2:431444/1‑138 (MQ=255) tgctgGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACt < 1:431444/138‑1 (MQ=255) tgctgGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGGGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCttggtt < 2:604432/150‑1 (MQ=255) ctgGCCGGTGGGGTGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGGCCTTCGCGGAACCGTACTTCATGCttggttgg < 1:386048/150‑1 (MQ=255) ctgGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCttggttgg < 1:557438/150‑1 (MQ=255) tgGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCTTGGTTggg > 1:466397/1‑150 (MQ=255) | AGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCTTGGTTGGG > NC_002947/5566330‑5566616 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |