| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_002947 | 4,993,315 | G→T | 22.2% | L408L (CTG→CTT) | bkdAA → | branched‑chain alpha‑keto acid dehydrogenase complex subunit alpha |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_002947 | 4,993,315 | 0 | G | T | 22.2% | 35.7 / 4.1 | 18 | L408L (CTG→CTT) | bkdAA | branched‑chain alpha‑keto acid dehydrogenase complex subunit alpha |
| Reads supporting (aligned to +/- strand): ref base G (7/7); new base T (2/2); total (9/9) | |||||||||||
| 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 | |||||||||||
GAGCTCGAAGCTGCGGTGATTGCCGCACAGAAAGAAGCCGAGCAGTACGGCACCCTGGCCAACGGGCACATCCCGAGCGCCGCCTCGATGTTCGAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGATCCAGGCCCTGCGCTCGGCCATGGATGTCATGCTTGA > NC_002947/4993169‑4993426 | gAGCTCGAAGCTGCGGTGATTGCCGCACAGAAAGAAGCCGAGCAGTACGGCACCCTGGCCAACGGGCACATCCCGAGCGCCGCCTCGATGTTCGAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTgggg < 2:165724/150‑1 (MQ=255) gAAGCTGCGGTGATTGCCGCACAGAAAGAAGCCGAGCAGTACGGCACCCTGGCCAACGGGCACATCCCGAGCGCCGCCTCGATGTTCGAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTga > 2:325934/1‑150 (MQ=255) cGCACAGAAAGAAGCCGAGCAGTAGGGCACACTGGCCAACGGGCACATCCCGAGCGCCGCCTCCATGTTCGAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGCCCacaacc > 2:51105/1‑149 (MQ=255) aaagaaGCCGAGCAGTACGGCACCCTGGCCAACGGGCACATCCCGAGCGCCGCCTCGATGTTCGAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCACAACAACAGCAt < 2:229352/150‑1 (MQ=255) gaagCCGAGCAGTACGGCACCCTGGCCAACGGGCACATCCCGAGCGCCGCCTCGATGTTCGAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCacaa > 2:323994/1‑138 (MQ=255) gaagCCGAGCAGTACGGCACCCTGGCCAACGGGCACATCCCGAGCGCCGCCTCGATGTTCGAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCacaa < 1:323994/138‑1 (MQ=255) cggtttccTGGCCACCGGGTACATCCCGAGCGCCGCCTTGATGTCTGAGTATGTTTACAAGGAAATGCCCGACCACTTGCGCCGTCAACGCCAGTAACTGGGNGTTTGAGATNAACGACCANAACAACAGCATCAACCCGGAAACCGCCa < 1:138975/144‑1 (MQ=255) ccGAGCGCCGCCTCGATGTTCGAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGAt > 2:208125/1‑150 (MQ=255) gATGTTCGAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGATCCAGGCCCTGCGCt > 1:135577/1‑150 (MQ=255) aTGTTCGAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCACCATGGCCACCACTCCCATGACCATGCTCCAGGCCCTGCGCTc < 1:385897/150‑1 (MQ=255) ttCGAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTTGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGATCCAGGCCCTGCGCTCGGc > 1:205689/1‑150 (MQ=255) gAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGATCCAGGCCCTGCGCTCGGCCAt > 1:357855/1‑150 (MQ=255) cAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTTGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGATCCAGGCCCTGCGCTCGGCCATGGATGTCATGc < 2:205689/150‑1 (MQ=255) cAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGATCCAGGCCCTGCGCTCGGCCATGGATGTCATGc < 1:208125/150‑1 (MQ=255) aaaGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGATCCAGGCCCTGCGCTCGGCCATGGATGTCATGc < 2:217932/149‑1 (MQ=255) aaGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGATCCAGGCCCTGCGCTCGGCCATGGATGTCATGCt > 2:340212/1‑150 (MQ=255) gAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGATCCAGGCCCTGCGCTCGGCCATGGATGTCATGCTTGa < 2:135577/150‑1 (MQ=255) aaTGCCCGACCACCTGCGCCGTCAACGCCAGGAACTTGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGATCCAGGCCCTGCGCTCGGCCATGGATGTCATGCt < 1:75398/145‑1 (MQ=255) aaTGCCCGACCACCTGCGCCGTCAACGCCAGGAACTTGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGATCCAGGCCCTGCGCTCGGCCATGGATGTCATGCt > 2:75398/1‑145 (MQ=255) | GAGCTCGAAGCTGCGGTGATTGCCGCACAGAAAGAAGCCGAGCAGTACGGCACCCTGGCCAACGGGCACATCCCGAGCGCCGCCTCGATGTTCGAGGATGTGTACAAGGAAATGCCCGACCACCTGCGCCGTCAACGCCAGGAACTGGGGGTTTGAGATGAACGACCACAACAACAGCATCAACCCGGAAACCGCCATGGCCACCACTACCATGACCATGATCCAGGCCCTGCGCTCGGCCATGGATGTCATGCTTGA > NC_002947/4993169‑4993426 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |