Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 5,566,467 | T→A | 16.3% | Q357L (CAG→CTG) | mutL ← | DNA mismatch repair protein MutL |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 5,566,467 | 0 | T | A | 16.3% | 104.3 / 14.8 | 43 | Q357L (CAG→CTG) | mutL | DNA mismatch repair protein MutL |
Reads supporting (aligned to +/- strand): ref base T (17/19); new base A (3/4); total (20/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.35e-01 |
TGCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCTTGGTTGG > NC_002947/5566326‑5566615 | tGCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTg < 2:556584/150‑1 (MQ=255) gCGAGGGACGTGGGGCGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACCCACCGGCCAGCAGGCCGGTga < 2:463916/150‑2 (MQ=255) tGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTTTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACg < 1:477388/150‑1 (MQ=255) tGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTAACTCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGgcagca > 2:327081/1‑150 (MQ=255) gTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAgg > 1:184253/1‑150 (MQ=255) aCCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGc < 2:92631/150‑1 (MQ=255) cGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCAGCAGGCCGGTga < 1:193100/117‑2 (MQ=255) cGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCAGCAGGCCGGTga > 2:193100/1‑116 (MQ=255) gcTGCCACCATCGGAAAACGATTGTTGCGGGGCTCGAGGCTGTTCCAGACACAGAC‑TTGCGATTCGCATTACACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGACCCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTg < 1:380775/150‑1 (MQ=255) ccaccaTTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCt > 2:571423/1‑150 (MQ=255) accaTTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTc < 2:368283/150‑1 (MQ=255) aaaCGACTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTAc < 1:466023/150‑1 (MQ=255) cTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCtt < 1:365985/134‑1 (MQ=255) cTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCtt > 2:365985/1‑134 (MQ=255) tGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGcc > 2:250654/1‑150 (MQ=255) ttGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCaa < 2:425396/150‑1 (MQ=255) gCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACgg > 1:90000/1‑150 (MQ=255) tCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTg > 2:325901/1‑150 (MQ=255) tGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTg > 1:26494/1‑150 (MQ=255) taG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGGGCGCGGCGCAGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATa > 2:325124/2‑150 (MQ=255) aaG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAgg < 2:381813/131‑1 (MQ=255) aaG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAgg > 1:381813/1‑131 (MQ=255) g‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAgg < 1:87011/129‑1 (MQ=255) g‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAgg > 2:87011/1‑129 (MQ=255) aCCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAgg > 1:109824/1‑150 (MQ=255) gCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGc < 1:571423/150‑1 (MQ=255) gCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGc > 2:542182/1‑150 (MQ=255) gCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGc < 1:250654/150‑1 (MQ=255) gcgcATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGa > 2:517302/1‑150 (MQ=255) tttCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGCCTGACACAGGAAGTCATGCACCGAGCGcc < 1:325124/150‑1 (MQ=255) ccTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTg < 2:133460/109‑1 (MQ=255) ccTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTg > 1:133460/1‑109 (MQ=255) ccTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTcgc < 2:26494/150‑1 (MQ=255) ccTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTcgc < 1:542182/150‑1 (MQ=255) cTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGATAGTCTTCTGGACTTACAACGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTcgcg < 2:360244/150‑1 (MQ=255) cccGAACTCACCGGCCTGCTGGCCGGTGGGGCGTACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCg > 1:273791/1‑150 (MQ=255) ccGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGt < 2:184253/150‑1 (MQ=255) ccccACCGGCCAGCAGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCa < 2:299418/116‑1 (MQ=255) ccccACCGGCCAGCAGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCa > 1:299418/4‑119 (MQ=255) ccccACCGGCCAGCAGGCCGGTGAGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTAc > 2:117148/4‑148 (MQ=255) ccccACCGGCCAGCAGGCCGGTGAGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTAc < 1:117148/145‑1 (MQ=255) ggCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCtt > 1:319370/1‑150 (MQ=255) gCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCttg < 1:327081/150‑1 (MQ=255) ctgGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGCTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCttggttgg < 2:304496/150‑1 (MQ=255) | TGCGAGGGACGTGGGGTGTATTGATACTGGTAACCGGCGCCGCTGCCACCATTGGAAAACGACTGTTGCGGGGCTCGAGGCTGTTCAAG‑CACCGGCGAGGCCAGGCGCATTTCACCCTGGGGCCCGAACTCACCGGCCTGCTGGCCGGTGGGGCGAACCAGCTCAGGTACGGCAGCAGGTGCGGCCAGCTGGTCTTCCGGACGTACATCGGCCAAGGCACGGTGCAAGGTGCCATACAGGAAGTCATGCACCGAGCGCCCTTCGCGGAACCGTACTTCATGCTTGGTTGG > NC_002947/5566326‑5566615 |
Alignment Legend |
---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |