Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 5,566,413 | T→A | 13.9% | 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 | 5,566,413 | 0 | T | A | 13.9% | 84.6 / 3.7 | 35 | Q358L (CAG→CTG) | mutL | DNA mismatch repair protein MutL |
Reads supporting (aligned to +/- strand): ref base T (13/17); new base A (2/3); total (15/20) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
CGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCTTG > NC_002947/5566277‑5566559 | cGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTg < 8:239793/148‑1 (MQ=255) cGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCAGCAGGCCGGt < 6:131168/147‑1 (MQ=255) gAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTggg < 4:19515/149‑1 (MQ=255) aGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTgggg < 3:262366/149‑1 (MQ=255) gACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACCCACCGGCCAGCAGGCCGGTgagttcg < 7:21816/149‑7 (MQ=255) aCGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGaa > 8:181123/1‑149 (MQ=255) gTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACCCACCGGCCAGCAGGCCGGTgagttcg > 4:329418/1‑140 (MQ=255) gTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACCCACCGGCCAGCAGGCCGGTgagttcg < 3:329418/146‑7 (MQ=255) ttGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTa > 3:110853/1‑149 (MQ=255) aTACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACgg > 1:8449/1‑149 (MQ=255) aTACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACgg < 7:181123/149‑1 (MQ=255) aTACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGCCCAGCTGGCCGGTGGGGCGAACCAGCTCAGGTACgg > 3:302140/1‑149 (MQ=255) tGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTgg < 1:7556/124‑1 (MQ=255) tGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTgg > 2:7556/1‑124 (MQ=255) gTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCctgctg < 4:173368/114‑1 (MQ=255) cGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCg < 5:200057/149‑1 (MQ=255) accaTTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACg > 6:53657/1‑124 (MQ=255) accaTTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACg < 5:53657/124‑1 (MQ=255) accaTTGGAAAACGACTGTAGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGAGCGGCCAGCTGGTCtt > 1:301022/1‑149 (MQ=255) caTTGGTAAACGTCTGTAGGGGGGCTCTAGGCTGTTAAAGCACCGGCGAGGCCAGGCGTATTTCAGCCTGGGGCCCGAACTGACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTcc < 2:301022/149‑1 (MQ=255) ggAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGa < 2:8449/148‑1 (MQ=255) ggggCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTg < 8:328859/81‑1 (MQ=255) gAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTg > 1:301741/1‑148 (MQ=255) gCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAg < 4:110853/149‑1 (MQ=255) gCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAg > 6:47447/1‑149 (MQ=255) ttCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTg < 8:202856/148‑1 (MQ=255) cACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACa < 5:47447/149‑1 (MQ=255) gCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAg < 2:301741/149‑1 (MQ=255) aGGCGCATTTCACCCTGGGGCCCGAACTCACAGTCCTGCTTGCCGGTGGGGCGAACCAGCTAAGGTACGGCAGCAGGTGCGGCAAGCTGGTCTTCCGGACTAAAATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAATTCATGCAc > 3:295336/1‑149 (MQ=255) gcATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAg > 3:22176/1‑149 (MQ=255) aCCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACAt > 7:173749/1‑95 (MQ=255) aCCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACAt < 8:173749/95‑1 (MQ=255) gCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAAc < 4:22176/149‑1 (MQ=255) gAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAgcg < 4:102431/132‑1 (MQ=255) gAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAgcg > 3:102431/1‑132 (MQ=255) ccTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCttg > 7:89852/1‑149 (MQ=255) | CGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCTTG > NC_002947/5566277‑5566559 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |