Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,197,502 | C→T | G11R (GGA→AGA) | ymfD ← | e14 prophage; putative SAM‑dependent methyltransferase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 1,197,502 | 0 | C | T | 98.2% | 189.2 / ‑4.0 | 56 | G11R (GGA→AGA) | ymfD | e14 prophage; putative SAM‑dependent methyltransferase |
Reads supporting (aligned to +/- strand): ref base C (0/1); new base T (26/28); total (26/30) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.04e-01 |
TACTGATTAATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCCGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACCACTCACTG > NC_000913_3_hsa_tpiA/1197355‑1197645 | tACTGATTAATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGt < 2:518776/150‑1 (MQ=255) aCTGATTAATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCtgtg < 2:67262/150‑1 (MQ=255) gATTAATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCat < 2:244275/150‑1 (MQ=255) aTTAATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCata < 3:305140/150‑1 (MQ=255) aTTAATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCata > 1:297224/1‑150 (MQ=255) ttAATTCATGAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTATTATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCatat < 2:513096/150‑1 (MQ=255) tAATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCAtatt > 2:209329/1‑150 (MQ=255) ttCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATtata > 2:423821/1‑150 (MQ=255) tcaGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTc > 2:173095/1‑150 (MQ=255) tcaGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTc > 4:301292/1‑150 (MQ=255) caGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCa > 4:261096/1‑150 (MQ=255) gAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCaaa > 1:325510/1‑150 (MQ=255) gAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCaaa < 3:271182/150‑1 (MQ=255) gAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCaaa < 1:189814/150‑1 (MQ=255) atatCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGc < 4:326604/150‑1 (MQ=255) cTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGt > 3:296754/1‑150 (MQ=255) gTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCa < 3:165173/150‑1 (MQ=255) gTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATGATAGTTCAAAGCAAGTACCa < 1:180101/150‑1 (MQ=255) tttCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCAtt < 2:497880/150‑1 (MQ=255) gCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAAtt < 1:11533/150‑1 (MQ=255) cAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTa > 3:242354/1‑150 (MQ=255) aaGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTAttttt < 2:508057/150‑1 (MQ=255) aGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTa < 1:312232/150‑1 (MQ=255) aGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCCGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTa < 3:253993/150‑1 (MQ=255) gCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTg > 2:439267/1‑150 (MQ=255) gCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGaaaaa > 2:429447/1‑150 (MQ=255) tttCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCttt > 1:568491/1‑150 (MQ=255) tcAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCttttatt < 2:484180/150‑1 (MQ=255) aaTATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCgg > 4:374047/1‑150 (MQ=255) aaTATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCgg < 4:240818/150‑1 (MQ=255) aaTATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCgg > 1:84584/1‑150 (MQ=255) cGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTc < 1:209329/150‑1 (MQ=255) aaaGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCga > 2:146766/1‑150 (MQ=255) tCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGtt < 4:371729/69‑1 (MQ=255) tCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGtt > 3:371729/1‑69 (MQ=255) tCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCAGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTCGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCgacttgact < 2:370160/150‑1 (MQ=255) gagGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCa < 1:3308/150‑1 (MQ=255) gagGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCa < 1:365578/150‑1 (MQ=255) tCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTgg < 1:25454/150‑1 (MQ=255) gTATGAGGTTTTGCTGCATTCTCTGAGCGAAAATTAACTCTGTGCATATTATAGATCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGc > 3:99211/1‑150 (MQ=255) aTGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCtt > 3:48211/1‑150 (MQ=255) tttGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTc > 1:299632/1‑150 (MQ=255) gctgcATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTcaaa < 2:299632/150‑1 (MQ=255) gctgcATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTcaaa < 1:350780/150‑1 (MQ=255) ctgcATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTcaaag < 1:173095/150‑1 (MQ=255) ctgcATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTcaaag > 1:440091/1‑150 (MQ=255) cATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCttt > 1:567185/1‑88 (MQ=255) cATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCttt < 2:567185/88‑1 (MQ=255) aTTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTcaaagcaaa < 1:423821/150‑1 (MQ=255) aTTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTcaaagcaaa < 1:439267/150‑1 (MQ=255) tGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGataat > 3:191086/1‑150 (MQ=255) tGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTGTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCAGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGataat > 3:375976/1‑150 (MQ=255) cGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACca < 3:339941/150‑1 (MQ=255) cGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACca > 2:553325/1‑150 (MQ=255) atTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACcactcac > 1:442009/1‑150 (MQ=255) ttAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACcactcact > 2:427026/1‑150 (MQ=255) tAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACCACTCACTg < 2:84584/150‑1 (MQ=255) | TACTGATTAATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCCGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACCACTCACTG > NC_000913_3_hsa_tpiA/1197355‑1197645 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |