Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 3,920,317 | C→T | 15.0% | R498Q (CGG→CAG) | acs ← | acyl‑CoA synthetase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 3,920,317 | 0 | C | T | 15.0% | 91.9 / 9.1 | 40 | R498Q (CGG→CAG) | acs | acyl‑CoA synthetase |
Reads supporting (aligned to +/- strand): ref base C (16/18); new base T (4/2); total (20/20) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 6.61e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.65e-01 |
GCATCCGGAATTTCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGAATGATCATGTCC > NC_002947/3920171‑3920457 | gcATCCGGAATTTCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCa > 1:403362/1‑150 (MQ=255) cGGAATTTCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCGGCTGCAcccgg < 2:208901/150‑3 (MQ=255) cGGAATTTCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAg < 2:1370184/150‑1 (MQ=255) gAATTTCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGc < 1:1324538/150‑1 (MQ=255) cACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGAtctc < 2:1035173/150‑1 (MQ=255) agtcgtctACAAAACGGAAATACCGAGGCACCTTGAAGTGCGCTATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGc < 2:234241/148‑1 (MQ=255) aCTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGc < 1:164386/150‑1 (MQ=255) tcgACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATc < 1:697138/150‑1 (MQ=255) gACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGTTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCAc < 2:687190/150‑1 (MQ=255) aCAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCAcc < 2:1100235/150‑1 (MQ=255) aCGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGcac > 2:721015/1‑150 (MQ=255) aaaTACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCGGGAGGGATAGAGCGTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCg > 2:37394/1‑150 (MQ=255) aTACCGGGGCAACTTGCAGTGCGAAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGc < 2:1083787/150‑1 (MQ=255) gCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCAccgccg > 2:11620/1‑150 (MQ=255) cTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCgggtg > 2:908875/1‑150 (MQ=255) ttGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCgggtgg < 1:1206437/150‑1 (MQ=255) gAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCATGCCAATCACCTGCACATCGGCCACCGCCgggtgggt < 2:403362/150‑1 (MQ=255) cgcAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTgaagaa < 2:132481/150‑1 (MQ=255) aTCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAAc < 2:756929/150‑1 (MQ=255) cTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTgaagaagaa > 1:758876/1‑146 (MQ=255) cTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTgaagaagaa < 2:758876/146‑1 (MQ=255) ttGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAActcct > 1:1219404/1‑150 (MQ=255) cTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGc > 1:947521/1‑150 (MQ=255) gCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTcg > 1:338769/1‑150 (MQ=255) ctctACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGCCCCCCCCCACCCCCCCCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGtt > 1:212037/1‑150 (MQ=37) tctACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTtc < 2:338769/150‑1 (MQ=255) tctACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTtc > 2:336637/1‑150 (MQ=255) tACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTtctc > 1:974475/1‑150 (MQ=255) cTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAg < 2:951991/67‑1 (MQ=255) cTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAg > 1:951991/1‑67 (MQ=255) aCTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAActcct < 2:1211713/119‑1 (MQ=255) aCTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAActcct > 1:1211713/1‑119 (MQ=255) aCAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCCCAGCAGCCACCGCCGGGTGGGTGAAGAAGAACTCCTACCGCTGGGGCGGGTAAATGTTCTCGCCGCCGCGa > 1:1380719/1‑150 (MQ=37) ctgggTGCGGCTGCACCCGGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCCGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGAATGATCATGt > 1:177512/3‑150 (MQ=21) ctgggTGCGGCTGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAActcc > 2:325510/3‑104 (MQ=255) ctgggTGCGGCTGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAActcc < 1:325510/102‑1 (MQ=255) ctgggTGCGGCTGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGAATGATCATGt > 2:40433/3‑150 (MQ=255) gggTGCGGCTGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGAATGATCATGTcc > 1:1403234/1‑150 (MQ=255) aGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCgggtgggt < 2:124462/83‑1 (MQ=255) aGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCgggtgggt > 1:124462/1‑83 (MQ=255) | GCATCCGGAATTTCTGCACCTTGCCCGTCACCGTCATCGGGAACTCGTCGACAAAACGGAAATACCGGGGCACCTTGAAGTGCGCAATCCTTGCCCTCGCCCACTCACGCAACTCTACCTCACTGACAGCATGCCCCGGGTGCAGCCGCACCCAGGCCACGATCTCTTCACCGTACTTGCTGCAGGGCACGCCAATCACCTGCACATCGGCCACCGCCGGGTGGGTGAAGAAGAACTCCTCCAGCTCGCGCGGGTAAATGTTCTCGCCGCCGCGAATGATCATGTCC > NC_002947/3920171‑3920457 |
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 < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |