Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 3,844,933 | A→T | 8.3% | L234Q (CTG→CAG) | PP_3394 ← | 3‑hydroxy‑3‑methylglutaryl‑CoA lyase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 3,844,933 | 0 | A | T | 8.3% | 141.1 / 3.3 | 48 | L234Q (CTG→CAG) | PP_3394 | 3‑hydroxy‑3‑methylglutaryl‑CoA lyase |
Reads supporting (aligned to +/- strand): ref base A (22/22); new base T (2/2); 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 = 9.41e-01 |
GCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCTGGCCCG > NC_002947/3844791‑3845080 | gcttAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAg < 5:110976/148‑1 (MQ=255) gTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATcc < 1:167643/149‑1 (MQ=255) tACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCa < 5:147548/149‑1 (MQ=255) gggTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTcccc > 7:310782/1‑148 (MQ=255) gTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCatg > 2:209925/1‑147 (MQ=255) tttCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATg > 5:95252/1‑149 (MQ=255) gcgcAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCctgctg > 2:282434/1‑148 (MQ=255) aaGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGccac < 6:95252/149‑1 (MQ=255) tCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCaa < 8:310782/149‑1 (MQ=255) gTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAagg > 1:299505/1‑149 (MQ=255) aGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGtt < 6:177034/139‑1 (MQ=255) aGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGtt > 5:177034/1‑139 (MQ=255) gCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAaggcca < 3:143679/149‑1 (MQ=255) cATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCA‑CAGGCTGTTGGCCAaggccaggcc > 5:95384/1‑149 (MQ=255) ctgcaaagcaTGGACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGcccc < 4:235856/142‑1 (MQ=255) ttGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCggg > 5:230528/1‑149 (MQ=255) gcagcaTGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAgg > 8:26102/1‑122 (MQ=255) gcagcaTGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAgg < 7:26102/122‑1 (MQ=255) ccagcaTGAACACCAGGACCTCGGTCACGGTATTACCAGACGCGACAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGATCCCCAATGCCCTGCTGCACCGCCACAAGACTGTTGGCCAAGTCAAGGcccccgc > 8:302373/2‑144 (MQ=255) cagcaTGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGgtgt > 8:282046/1‑149 (MQ=255) aaCACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGaa < 6:230528/149‑1 (MQ=255) aaCACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGaa < 2:75966/149‑1 (MQ=255) aaCACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCACCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGaa < 1:282434/149‑1 (MQ=255) acacCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAg < 2:299505/149‑1 (MQ=255) cacCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGt < 2:295493/149‑1 (MQ=255) cacCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGt > 4:276183/1‑149 (MQ=255) cacCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGCAAg > 1:295493/1‑148 (MQ=255) ccTCGGTCACGGTATTACCAGACGAGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGcc > 5:271492/1‑149 (MQ=255) ggTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTg < 6:87079/148‑1 (MQ=255) tCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTgaga > 1:308431/1‑149 (MQ=255) aCGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACg > 4:333725/1‑149 (MQ=255) aCCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCt < 7:282046/148‑1 (MQ=255) ccAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGc < 3:305796/149‑1 (MQ=255) gcCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTccc > 3:36280/1‑149 (MQ=255) cGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCA‑CAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAg < 6:95384/149‑1 (MQ=255) ggCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGc < 6:271492/149‑1 (MQ=255) gatgCCTCCCTGGCGGGCCTGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCa > 4:241385/4‑149 (MQ=255) gCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCa > 4:73308/1‑149 (MQ=255) aGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCAc > 8:163090/1‑148 (MQ=255) cTCCCTGGCGGGCCTGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCtt > 7:295086/1‑106 (MQ=255) cTCCCTGGCGGGCCTGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCtt < 8:295086/106‑1 (MQ=255) cTCCCTGGCGGGCCTGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCAtt < 3:241385/149‑1 (MQ=255) cTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCAtt < 3:276183/149‑1 (MQ=255) tCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAACCCCCATTg > 8:220401/1‑149 (MQ=255) ccAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCCTTGc > 4:261534/1‑148 (MQ=255) ggCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCAcc < 4:36280/149‑1 (MQ=255) ccGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCTgg > 8:152568/1‑149 (MQ=255) cGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCTGGc < 7:152568/149‑1 (MQ=255) aGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCCGGCCCg > 4:278339/1‑148 (MQ=255) | GCTTAGTACCTGCCGGGTTTCGATTAGCGCAGGCAAGTCGATGCCGGTGTCGTAGCCCATGCTTTGCAGCATGAACACCAGGTCCTCGGTCACGGTATTACCAGACGCGCCAGGGGCGAACGGGCAGCCTCCCAGGCCCGCCAGGGAGGCATCCAGTTCCCCAATGCCCTGCTGCACCGCCACCAGGCTGTTGGCCAAGGCCAGGCCCCGGGTGTCATGGAAGTGCGCGGCCTTGAGACGGTCGCCTGCAATCTCCCGTACGGCCTGAAGCACCATTGCCACCTGGCCCG > NC_002947/3844791‑3845080 |
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: ‑ |