Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 388,722 | T→A | 8.2% | L198Q (CTG→CAG) | soxB → | sarcosine oxidase subunit beta |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 388,722 | 0 | T | A | 8.2% | 160.1 / 3.2 | 57 | L198Q (CTG→CAG) | soxB | sarcosine oxidase subunit beta |
Reads supporting (aligned to +/- strand): ref base T (25/27); new base A (2/3); total (27/30) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.23e-01 |
CTGCCCAGGTTGCGGCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGCTTCATCGGCGCCAAGCGCGTCGGCGTGGTCACCGCCGGTAACTCCGGGCACATGGCCAAGC > NC_002947/388578‑388868 | cTGCCCAGGTTGCGGCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGc < 7:257812/149‑1 (MQ=255) cccAGGTTGCGGCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTc < 8:198405/149‑1 (MQ=255) ccAGGTTGCGGCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGc < 4:22736/145‑1 (MQ=255) ccAGGTTGCGGCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGc > 3:22736/1‑145 (MQ=255) ccAGGTTGCGGCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTc > 7:67871/1‑148 (MQ=255) cAGGTTGCGGCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCAGGGCGTCgg < 8:246330/149‑2 (MQ=255) aGGTTGCGGCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCAGGGCGTCgg > 3:118510/1‑147 (MQ=255) ggTTGCGGCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCAGGGCGTCggca < 4:118510/149‑4 (MQ=255) gTTGCGGCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACGGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCt < 7:199954/149‑1 (MQ=255) ggCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGa < 6:264708/146‑1 (MQ=255) ggCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGa > 5:264708/1‑146 (MQ=255) ggCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATc > 4:181571/1‑148 (MQ=255) ccGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAg > 4:117797/1‑149 (MQ=255) aTCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCAGGGCGTCggca < 1:119122/136‑4 (MQ=255) aTCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCCCCGCCCAGGgcggcggca > 2:119122/1‑133 (MQ=255) tCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAAcc > 1:29611/1‑149 (MQ=255) cGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGaa < 2:294924/149‑1 (MQ=255) ctACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTTGTGGCGTTGCCCGTCACGATGCCGTGGCCTGTGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGaa < 7:5866/147‑1 (MQ=255) cTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGa < 2:228801/130‑1 (MQ=255) cTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGa > 1:228801/1‑130 (MQ=255) cTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGAt > 6:50665/1‑149 (MQ=255) ggACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCg > 3:27920/1‑149 (MQ=255) tGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCtt > 5:298079/1‑149 (MQ=255) tCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCg > 2:198868/1‑149 (MQ=255) gaagaaCACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGc > 6:124430/1‑148 (MQ=255) gaagaaCACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGc > 5:66146/1‑148 (MQ=255) gaagaaCACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGc < 5:50665/148‑1 (MQ=255) gaagaaCACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGc > 5:229208/1‑148 (MQ=255) gaagaaCACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCAGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGc > 8:124568/1‑148 (MQ=255) aagaaCACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCaa < 5:297790/149‑1 (MQ=255) acCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGaaaa < 4:27920/149‑1 (MQ=255) gCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAAc < 4:230127/118‑1 (MQ=255) gCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAAc > 3:230127/1‑118 (MQ=255) gCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGgc > 5:67151/1‑149 (MQ=255) aTCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCAt < 3:181571/149‑1 (MQ=255) tCCTCGGCGCCACCGTACAGCGCCGTGGTTGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCTGTCATc < 6:229208/149‑1 (MQ=255) cTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCg < 8:67871/148‑1 (MQ=255) ggCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGgt < 5:124430/147‑1 (MQ=255) tACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACcaac < 6:67151/149‑1 (MQ=255) gcgcCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAg < 6:294057/149‑1 (MQ=255) cgcCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAgg < 6:298079/149‑1 (MQ=255) gcCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGc < 7:124568/149‑1 (MQ=255) gTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTgg < 7:196483/55‑1 (MQ=255) gTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTgg > 8:196483/1‑55 (MQ=255) gCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGCTTCATCGGCGcc > 6:128286/1‑147 (MQ=255) ccGTCACGATGCCGTGGCCTGGGACTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGCTTCATCGGCGCCAAgc > 7:193574/1‑149 (MQ=255) cGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGCTTCATCGGCGCCAAgcg > 3:251292/1‑149 (MQ=255) ccGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGTCTTCATCGGCGCCAAGCGCGTCGGCGTg < 1:198868/149‑1 (MQ=255) ccGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGCTTCATCGGCGCCAAGCGCGTCGGCGTg < 2:29611/149‑1 (MQ=255) cGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGaaa > 7:211106/1‑110 (MQ=255) cGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGaaa < 8:211106/110‑1 (MQ=255) ccTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGCTTCATCGGCGCCAAGCGCGTCGGCGTGGTCAcc > 5:212358/1‑149 (MQ=255) tGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGCTTCATCGGCGCCAAGCGCGTCGGCGTGGTCAccgc > 1:192039/1‑149 (MQ=255) ggCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGCTTCATCGGCGCCAAGCGCGTCGGCGTGGTCACCGCCgg < 6:66146/149‑1 (MQ=255) gCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGCTTCATCGGCGCCAAGCGCGTCGGCGTGGTCACCGCCGGt < 5:128286/149‑1 (MQ=255) cGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGCTTCATCGGCGCCAAGCGCGTCGGCGTGGTCACCGCCGGTAACTCCGGGCACATgg < 2:192039/149‑1 (MQ=255) ccTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGCTTCATCGGCGCCAAGCGCGTCGGCGTGGTCACCGCCGGTAACTCCGGGCACATGGCCAAGc > 5:55995/1‑149 (MQ=255) | CTGCCCAGGTTGCGGCCGAAATCCCGTACCTGGACTGCTCGAAGAACACCCGCTACCCGATCCTCGGCGCCACCGTACAGCGCCGTGGTGGCGTTGCCCGTCACGATGCCGTGGCCTGGGGCTTCGCCCGCGCTGCCGACGCCCTGGGCGTCGACCTGATCCAGCAAACCGAAGTGATCGGCTTCCGCAAGGAAAACGGCGCGGTCATCGGTGTGGAAACCAACAAAGGCTTCATCGGCGCCAAGCGCGTCGGCGTGGTCACCGCCGGTAACTCCGGGCACATGGCCAAGC > NC_002947/388578‑388868 |
Alignment Legend |
---|
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: ‑ |