| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,726,006 | C→A | 33.3% | intergenic (‑86/‑17) | ydhL ← / → nemR | DUF1289 family protein/transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,726,006 | 0 | C | A | 33.3% | 51.9 / 37.8 | 42 | intergenic (‑86/‑17) | ydhL/nemR | DUF1289 family protein/transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| Reads supporting (aligned to +/- strand): ref base C (12/16); new base A (8/6); total (20/22) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.15e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.11e-01 | |||||||||||
CTGGCAAATTCCCCGGCACGGGCTCTGGACGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAA > NC_000913_3_hsa_tpiA/1725864‑1726148 | cTGGCAAATGCCCCGGCCCGGGCTCTGGCCGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCATAATAGATTATGACCATTCGTGAAGCTGTTAATCTCATAAGGTGCAACTTTGCTTGCACTAGCCCGAGTCGTATACTaca < 2:537597/150‑1 (MQ=255) gCAAATTCCCCGGCACGGGCTCTGGACGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTc < 2:204168/150‑1 (MQ=255) cAAATTCCCCGGCACGGGCTCTGGACGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTATACTACACTcc < 2:230128/150‑1 (MQ=255) aaaTTCCCCGGCACGGGCTCTGGACGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCa > 3:259334/1‑150 (MQ=255) aaaTTCCCCGGCACGGGCTCTGGACGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCAGTATTGAAGCTGTTAATGTCCCAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTATACTACACTCCa > 2:396977/1‑150 (MQ=255) aTTCCCCGGCACGGGCTCTGGACGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAAc < 3:239613/150‑1 (MQ=255) ttCCCCGGCACGGGCTCTGGACGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACg < 1:145477/150‑1 (MQ=255) cccGGCACGGGCTCTGGACGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTATACTACACTCCAACGCAt < 4:358586/150‑1 (MQ=255) cGGGCTCTGGACGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTATACTACACTCCAACGCATGaacaaa < 1:454532/150‑1 (MQ=255) ggCTCTGGACGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCGCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGaacaaaca < 1:220450/150‑1 (MQ=255) tGGACGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCg > 2:79881/1‑150 (MQ=255) gAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGa > 2:95281/1‑150 (MQ=255) gAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACCCCAACGCATGAACAAACACACCGAACATGa > 4:143376/1‑150 (MQ=255) aaaGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAATCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGAt > 1:349222/1‑150 (MQ=255) aaaGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGAt > 2:476217/1‑150 (MQ=255) aaCTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTc < 1:560853/150‑1 (MQ=255) ctctAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTATACTACACTCCAACGCATGAACAAACACACCGAACATGATACTcgc < 1:415345/150‑1 (MQ=255) tctAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTATACTACACTCCAACGCATGAACAAACACACCGAACATGATACTcgcg > 2:562844/1‑150 (MQ=255) ttGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACAt < 3:61344/150‑1 (MQ=255) tCCGTCACATCGACCTCGACAAATACGAGTGTTACAATTGATGAAGATGTAAATGTTCAAAGTAACAACATTGCTTTAACTAGAGAAACTGGTAGACGACAGACAAACGCATGAACAAACACACCGAACAGGATACTCGCGCACAtctca > 2:168029/1‑149 (MQ=255) tCCGCCACTTCGCCCTCCTCAGATAAGATCATTACCATTATTCAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTcc > 2:11107/1‑150 (MQ=255) cACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCg < 3:276751/150‑1 (MQ=255) aCTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGa < 4:144011/150‑1 (MQ=255) ctcAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTATACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGCCGCCCGGCGACCac > 1:296720/1‑149 (MQ=255) tcAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTATACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAAc > 3:255796/1‑150 (MQ=255) aGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTATACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACtt > 2:326011/1‑150 (MQ=255) aTAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTg > 4:246629/1‑150 (MQ=255) aaaGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGc < 4:65712/149‑1 (MQ=255) tattaCCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCaa < 3:216991/150‑1 (MQ=255) aCCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTATACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTg < 4:352749/150‑1 (MQ=255) attGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCa < 1:283335/150‑1 (MQ=255) tGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATg > 4:168253/1‑150 (MQ=255) gTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATgg < 4:190609/150‑1 (MQ=255) tAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATgggg < 4:282678/150‑1 (MQ=255) ccAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATTATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGc < 1:408070/150‑1 (MQ=255) tAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCCCCGGGATGGGGCTAAGCGAATTa > 2:407056/1‑150 (MQ=255) tAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGCTGGGGCTAAGCGAATTa > 4:381749/1‑150 (MQ=255) cTTTGCTTGCACTAGACCGACTGGTATACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTaaaa > 1:385074/1‑150 (MQ=255) cTAGACCGACTGGTATACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCGAAGCGAATTACTAAAAACCGCTGAAGt > 1:327565/1‑150 (MQ=255) tAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGAGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTg > 3:141954/1‑150 (MQ=255) gACCGATTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGcc < 3:206488/150‑1 (MQ=255) gACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGaaa < 3:237421/150‑1 (MQ=255) | CTGGCAAATTCCCCGGCACGGGCTCTGGACGGGAAAGAACTCTAATTGCTCCGCCACTTCGCCCTCCTCAGATAAGATTATTACCATTATTGAAGCTGTTAATGTCCAAAGTAGCAACTTTGCTTGCACTAGACCGACTGGTCTACTACACTCCAACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAA > NC_000913_3_hsa_tpiA/1725864‑1726148 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |