| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,734,464 | G→C | T10T (ACG→ACC) | mepH → | murein DD‑endopeptidase, space‑maker hydrolase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,734,464 | 0 | G | C | 96.5% | 196.4 / ‑3.4 | 59 | T10T (ACG→ACC) | mepH | murein DD‑endopeptidase, space‑maker hydrolase |
| Reads supporting (aligned to +/- strand): ref base G (0/2); new base C (33/23); total (33/26) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.81e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
TATTTTTTAACAATAAAAGCTATTAACTTTCTCTTCTTCTATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACGCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATAAAAAGAAAAGCACGGCAACCACCAAAAAGACCCAGAAA > NC_000913_3_hsa_tpiA/1734323‑1734608 | tATTTTTTAACAATAAAAGCTATTAACTTTCTCTTCTTCTATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGc > 2:429981/1‑150 (MQ=255)tATTTTTTAACAATAAAAGCTATTAACTTTCTCTTCTTCTATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCGTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGc > 1:403671/1‑150 (MQ=255) aaTAAAAGCTATTAACTTTCTCTTCTTCTATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTa < 2:479477/150‑1 (MQ=255) cTATTAACTTTCTCTTCTTCTATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTg < 4:324920/150‑1 (MQ=255) tATTAACTTTCTCTTCTTCTATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGc > 2:427156/1‑150 (MQ=255) aaCTTTCTCTTCTTCTATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCttt > 1:185595/1‑150 (MQ=255) cTTTCTCTTCTTCTATGCATTAGAATCATCAAGTTTTGTAAATCAGTCGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTaa < 4:366416/150‑1 (MQ=255) cTTTCTCTTCTTCTATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAAACGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTaa < 2:199316/150‑1 (MQ=255) tttCTCTTCTTCTATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTaa > 2:775467/1‑149 (MQ=255) tttCTCTTCTTCTATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTaa < 1:775467/149‑1 (MQ=255) cttctATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATgg < 2:345916/150‑1 (MQ=255) ttctATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACGCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGc < 2:183084/150‑1 (MQ=255) ttctATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGc < 2:720365/150‑1 (MQ=255) ctATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGccc < 1:652925/150‑1 (MQ=255) tATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCa > 1:626951/1‑150 (MQ=255) tGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATg > 4:264353/1‑150 (MQ=255) cATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCt > 1:177034/1‑150 (MQ=255) aTTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCtt > 4:419580/1‑150 (MQ=255) aTTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCtt > 1:239349/1‑150 (MQ=255) gAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCaaa < 2:832243/150‑1 (MQ=255) gAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTCTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCaaa > 3:496512/1‑150 (MQ=255) tcatcaAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAaagca > 4:75739/1‑150 (MQ=255) tcaAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAaagcaagc > 1:121413/1‑150 (MQ=255) tAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGagaga > 3:518295/1‑149 (MQ=255) aaTCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCtt < 2:585510/107‑1 (MQ=255) aaTCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCtt > 1:585510/1‑107 (MQ=255) gACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGTAGAGTTCTGCTa < 2:295341/150‑1 (MQ=255) gCATGATAGACCTGCCTTTACAGAGGGACGCTCAGAGGCGCGGATAGACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCa < 2:540196/150‑1 (MQ=255) tGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTAGTTTTTACCACCCTGCCTGTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGCGTTCTCCTACCACTCatat > 4:406466/1‑150 (MQ=255) gATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCtt > 4:432987/1‑112 (MQ=255) gATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCtt < 3:432987/112‑1 (MQ=255) gATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATc > 4:162229/1‑150 (MQ=255) aTAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCa < 4:427695/150‑1 (MQ=255) tAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCAc < 2:121413/150‑1 (MQ=255) cTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCaaaa > 1:165408/1‑150 (MQ=255) cTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGc < 2:185595/150‑1 (MQ=255) cTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGc < 3:124911/150‑1 (MQ=255) agagGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATaa > 3:155339/1‑150 (MQ=255) agGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATaaaa < 3:75739/150‑1 (MQ=255) ggACGCTAAGTGGCGCGGAGAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACTCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAACAACCAGAGAataag > 2:154553/1‑150 (MQ=255) tCAGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCCCCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACACATATCACCAAAAAAGCAGATAaaaagaaaaaa > 4:414277/1‑148 (MQ=255) aGTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATAAAAAGAAAAGCAc > 1:689317/1‑150 (MQ=255) gTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATc > 3:49299/1‑120 (MQ=255) gTGGCGCGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATc < 4:49299/120‑1 (MQ=255) gcgcGGATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATAAAAAGAAAAGCACGGCa > 3:316733/1‑150 (MQ=255) ggATAAACCGTATTTCGATCACGCTCTGTGCTTTACGTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCGAGGGAGAGTTTTGCTACCACACAAAAAAAAAAAAAAGCAGATAAAAAGAAAAGCACGGCAacca < 2:386638/150‑1 (MQ=255) gATAAACCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATAAAAAGAAAAGCACGGCAaccac < 2:403671/150‑1 (MQ=255) aaCCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATAAAAAGAAAAGCACGGCAACCACCaaa < 3:384560/150‑1 (MQ=255) aCCGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCATTAACGCCTATGGCCCATGCTTCAAACAAAGCCAGGGAAAGTTCTGCAACCACTCATAACACCAAAAAAACAGATAAAAAAAAAAACACGGCAACCACCaaaa > 2:824807/1‑150 (MQ=255) ccGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATAAAAAGAAAAGCACg < 3:46833/136‑1 (MQ=255) ccGTATTTCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATAAAAAGAAAAGAACg > 4:46833/1‑136 (MQ=255) ccGTATTTCGATCACCCTCTGGGCTTTACTTTTTACCACCCTGCCCTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCATGGAGAGTTCTACTACCACTCATAACACCAAAAAAGCAAATAAAAAGAAAAGCACGACAACCACCaaaaa > 2:631883/1‑150 (MQ=255) tttCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATAAAAAGAAAAGCACGGCAACCACCAAAAAGa < 2:651288/147‑1 (MQ=255) tttCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATAAAAAGAAAAGCACGGCAACCACCAAAAAGa > 1:651288/1‑147 (MQ=255) tttCGATCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACCCATATCACCAAAAAAGCAGATAAAAAGAAAAGCACGGCAACCACCAAAAAGAccc > 3:177234/1‑150 (MQ=255) tttCGATCACCCTCTGTGCTTTACTTTTTACCACACTGCCTTTAACGCCTATGGCCCATGATTCAAAGCAAGCGAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGGAGAGAAAAAGAAAAGCACGGCAACCACAAAAAAGAccc > 2:126542/1‑150 (MQ=255) tttCGATCACACTCAGTGCTTTACTTTTTACCACCCTGCCTTAAACGCCTATGGCCAATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATAACAAAAAAAAAGCAGATAAAAAGAAAAGCACGGCAACCACCAAAAAGAccc < 4:155339/150‑1 (MQ=255) aTCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATAAAAAGAAAAGCACGGCAACCACCAAAAAGACCCAGaaa > 2:8523/1‑150 (MQ=255) aTCACCCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATAAAAAGAAAAGCACGGCAACCACCAAAAAGACCCAGaaa > 1:399113/1‑150 (MQ=255) | TATTTTTTAACAATAAAAGCTATTAACTTTCTCTTCTTCTATGCATTAGAATCATCAAGTTTTGTAAATCAGACGCAGGCATGATAGACCTGCCTTTACAGAGGGACGCTCAGTGGCGCGGATAAACCGTATTTCGATCACGCTCTGTGCTTTACTTTTTACCACCCTGCCTTTAACGCCTATGGCCCATGCTTCAAAGCAAGCCAGGGAGAGTTCTGCTACCACTCATATCACCAAAAAAGCAGATAAAAAGAAAAGCACGGCAACCACCAAAAAGACCCAGAAA > NC_000913_3_hsa_tpiA/1734323‑1734608 |
| 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: ‑ |