Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 5,566,464 | T→A | 10.3% | Q358L (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 | 5,566,464 | 0 | T | A | 10.3% | 131.5 / 6.0 | 48 | Q358L (CAG→CTG) | mutL | DNA mismatch repair protein MutL |
Reads supporting (aligned to +/- strand): ref base T (22/21); new base A (2/3); total (24/24) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.67e-01 |
GGCAGCGGCTGCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCTTGGTT > NC_002947/5566317‑5566613 | ggcAGCGGCTGCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCcagc < 2:731740/150‑1 (MQ=255) ggcAGCGGCTGCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCcagc < 2:731962/150‑1 (MQ=255) gCTGCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGCGCCCGAACTCACCGGCCTGCTGGCCgg > 2:288919/1‑150 (MQ=255) tGCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTg > 1:543915/1‑150 (MQ=255) gCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCAGCAGGCCGGTga < 1:235794/150‑2 (MQ=255) gAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTTACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTgggg < 1:812071/150‑1 (MQ=255) gggTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCt < 1:386787/150‑1 (MQ=255) gtgtATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCGCa > 2:124924/1‑150 (MQ=255) ttGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGt > 2:522892/1‑148 (MQ=255) ttGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGt < 1:522892/148‑1 (MQ=255) gATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTAAGGTCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACgg > 1:269635/1‑150 (MQ=255) gTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAgg < 1:269801/150‑1 (MQ=255) gTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAgg > 2:269801/1‑150 (MQ=255) aaCCGGCGCCGCTGGCACCATTGGAAAACTACTGTTGCGGGGCTCGGGGCTGATCAAGCACCGGCGAGGCCAGGCGCCTTTCACACTGGTGCCCGAACTAACCGACCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTg > 2:206744/1‑150 (MQ=255) aCCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGACGCTGTCCAAGCATCCGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGACCTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGc < 1:327230/150‑1 (MQ=255) gtcgccgcTGTCCCCAGTAGAAAACGGCTTTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGCTCAGGCCCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGc < 1:189531/148‑1 (MQ=255) gCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTc < 1:681254/150‑1 (MQ=255) caccaTTGGAACACGACTGTTGCGGGGCGGGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCCTTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCCGGTACGGCCGCAGGCGCGGCCAGCTGGTCtt > 1:51088/1‑150 (MQ=255) caTTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCg > 2:87471/1‑150 (MQ=255) ggAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACg < 1:87471/150‑1 (MQ=255) ggAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACg > 1:490198/1‑150 (MQ=255) gAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGt < 2:704227/150‑1 (MQ=255) aCGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACAt < 2:543915/150‑1 (MQ=255) tCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAAc < 2:834167/84‑1 (MQ=255) tCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAAACAGCTCAGGTACGGCAGCCGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTg > 2:601975/1‑150 (MQ=255) tCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCCGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAAc > 1:834167/1‑84 (MQ=255) gAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACg > 1:126397/1‑145 (MQ=255) gAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACg < 2:126397/145‑1 (MQ=255) ggCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAACGCACGGTGCAAg > 1:550168/1‑150 (MQ=255) cTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGt < 1:288919/150‑1 (MQ=255) tGTTCAAGCACCGGCGAGGCACCGCGCAATTCACCCTGGGGGCCGGATCCACCTTGCTACGGGCCGTGCTGTGGAAGCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACTGTACAAGGTg < 2:53192/150‑1 (MQ=255) gTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGc < 2:490198/150‑1 (MQ=255) gCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCAGCAGGCCGGt > 1:239019/1‑61 (MQ=38) gCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCAGCAGGCCGGt < 2:239019/61‑1 (MQ=38) gCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGt > 1:162772/1‑150 (MQ=255) aGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCAc < 1:578879/123‑1 (MQ=255) aGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCAc > 2:578879/1‑123 (MQ=255) gCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGTCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAgg > 2:371437/1‑130 (MQ=255) gCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGTCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAgg < 1:371437/130‑1 (MQ=255) gCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGcc > 1:529684/1‑114 (MQ=255) gCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGcc < 2:529684/114‑1 (MQ=255) cTGGGGCCGGATCTTACCGGCGTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGTTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGCGCCATACAGGAAGTCATGCACCGAGCGCCCTTcgcg < 2:201706/150‑1 (MQ=255) ccGAACTCACCGGCCTACTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGt > 1:380472/1‑150 (MQ=255) ccACCGGCCAGCAGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCGAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCa > 2:26680/2‑150 (MQ=255) aCCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATg > 2:807310/1‑150 (MQ=255) aCCGGCCAGCCCGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGACTTTCGCACTTACATCCGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATg < 1:488124/150‑1 (MQ=255) ggCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCTGAACCGTACTTCATGCtt < 2:162772/150‑1 (MQ=255) ggCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCtt > 1:764181/1‑150 (MQ=255) gCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGt > 2:423249/1‑45 (MQ=255) gCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGt < 1:423249/45‑1 (MQ=255) tgctgGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCttggtt > 1:4484/1‑150 (MQ=255) | GGCAGCGGCTGCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCTTGGTT > NC_002947/5566317‑5566613 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |