Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 5,566,464 | T→A | 17.7% | 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 | 17.7% | 67.8 / 10.1 | 30 | Q358L (CAG→CTG) | mutL | DNA mismatch repair protein MutL |
Reads supporting (aligned to +/- strand): ref base T (11/13); new base A (2/3); 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 = 6.98e-01 |
GGCAGCGGCTGCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCTTG > NC_002947/5566317‑5566610 | ggcAGCGGCTGCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCctgc > 1:41783/1‑150 (MQ=255) gCGAGGGACGTGGGGTGTATTAATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACCCACCGGCCAGCAGGCCGGTga < 1:306779/150‑2 (MQ=255) cGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTggg < 2:27599/150‑1 (MQ=255) gACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGaa < 1:172608/150‑1 (MQ=255) gTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGTTGCGAACCa > 1:369729/1‑150 (MQ=255) gTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCa < 1:475529/150‑1 (MQ=255) ggggTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGc > 1:33849/1‑150 (MQ=255) tgtATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAg < 2:33849/150‑1 (MQ=255) tGAGACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACg < 1:283807/150‑1 (MQ=255) tGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGgcagca < 1:561824/150‑1 (MQ=255) gcTGCCACCATTGGAAAACGACTGTTGTGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGa < 2:398370/115‑1 (MQ=255) gcTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGa > 1:398370/1‑115 (MQ=255) gAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACGGGATCGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTCGTCTTCCGGAcct > 1:178353/1‑148 (MQ=255) ttCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGcc < 2:505205/150‑1 (MQ=255) aaGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATa > 2:552765/1‑150 (MQ=255) cACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAg > 2:555380/1‑150 (MQ=255) ggCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAg < 2:208401/150‑1 (MQ=255) gCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCCCCGGCCTGCTGGCCTGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGt > 2:215106/1‑150 (MQ=255) ccAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCa < 1:274621/150‑1 (MQ=255) gcgcATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTg < 1:134098/127‑1 (MQ=255) gcgcATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTg > 2:134098/1‑127 (MQ=255) aTTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAgcgc > 1:3472/1‑150 (MQ=255) tttCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGcc > 2:157976/1‑150 (MQ=255) ccGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCa > 1:461012/1‑127 (MQ=255) ccGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCa < 2:461012/127‑1 (MQ=255) cccACCGGCCAGCAGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACAt > 2:120837/3‑80 (MQ=39) cccACCGGCCAGCAGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACAt < 1:120837/78‑1 (MQ=39) cACCGGCCAGCAGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCAc < 1:544604/121‑1 (MQ=255) cACCGGCCAGCAGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCAc > 2:544604/1‑121 (MQ=255) gCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCttg < 1:555380/150‑1 (MQ=255) gCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCttg > 1:338034/1‑150 (MQ=255) | GGCAGCGGCTGCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAGCACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCTTG > NC_002947/5566317‑5566610 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |