| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_002947 | 1,825,133 | G→C | 10.2% | R55G (CGC→GGC) | mutS ← | DNA mismatch repair protein MutS |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_002947 | 1,825,133 | 0 | G | C | 10.2% | 163.0 / 8.8 | 56 | R55G (CGC→GGC) | mutS | DNA mismatch repair protein MutS |
| Reads supporting (aligned to +/- strand): ref base G (25/25); new base C (4/2); total (29/27) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.71e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.44e-01 | |||||||||||
GGGCCCTTGCTGGTGGCGGGGTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGCATCATCGGGGTG > NC_002947/1824991‑1825275 | gggCCCTTGCTGGTGGCGGGGTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTc < 1:464382/150‑1 (MQ=255) ccTTGCTGGTGGCGGGGTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCTGCCGACTG‑ACCGCGGGCGGTCAggg > 1:654096/1‑150 (MQ=255) tggtggCGGGGTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGatat < 1:4921/150‑1 (MQ=255) ggCGGGATCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCcag < 2:1157671/150‑1 (MQ=255) gggTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACGGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGt > 1:1262926/1‑150 (MQ=255) gCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTcgc < 2:1311299/150‑1 (MQ=255) gCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTcgc > 1:1311299/1‑150 (MQ=255) cTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCttttt < 2:828481/150‑1 (MQ=255) tCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCCCATGGGGATGGACTGGCCGGCCGACTG‑ACAGCGGGGGGCCAGGGTGGTAGCCAGCGGTTTCGCGGCCTTTTTc > 1:317744/1‑150 (MQ=255) caGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCa < 2:606223/150‑1 (MQ=255) caccacCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGACCGACTG‑ACCGCGCGCGGTCAGGGTTATATCCAGCAGTTTCTCGGCCTTTTTCGCATCTTc > 2:450316/1‑150 (MQ=255) caccGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTa > 2:917766/1‑150 (MQ=255) accGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGat > 2:862183/1‑113 (MQ=255) accGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGat < 1:862183/113‑1 (MQ=255) accGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTag < 1:394748/150‑1 (MQ=255) cGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTagaa > 2:399654/1‑150 (MQ=255) gACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCgcggg < 2:879157/97‑1 (MQ=255) gACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCgcggg > 1:879157/1‑97 (MQ=255) tCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGAtt > 2:318444/1‑149 (MQ=255) gCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCca < 2:166846/110‑1 (MQ=255) gCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCca > 1:166846/1‑110 (MQ=255) gAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCTACGAAGAtgcgaaa > 2:953290/1‑144 (MQ=255) cTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGaa < 1:399654/150‑1 (MQ=255) cTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGaa < 2:1237367/150‑1 (MQ=255) ggCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCg > 1:1018562/1‑150 (MQ=255) ggTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGt > 1:1392138/1‑79 (MQ=255) ggTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGt < 2:1392138/79‑1 (MQ=255) gCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCCCGCGGTCAgtc < 1:379041/74‑3 (MQ=39) gCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCCCGCGGTCAgtc > 2:379041/1‑72 (MQ=39) ctgccAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCa > 2:469131/4‑150 (MQ=255) cAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGG‑CTGCCTCCGGCACCACCGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTg < 2:37541/150‑1 (MQ=255) cGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTc < 2:814637/150‑1 (MQ=255) tGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATcc < 1:285600/69‑1 (MQ=255) tGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATcc > 2:285600/1‑69 (MQ=255) aCGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCt < 1:471452/150‑1 (MQ=255) gAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGa < 2:231712/126‑1 (MQ=255) gAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGa > 1:231712/1‑126 (MQ=255) gAATCCCGCACAGGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGt < 2:317744/150‑1 (MQ=255) aTCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGttt > 1:316527/1‑150 (MQ=255) ccGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGaa > 1:73545/1‑122 (MQ=255) ccGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGaa < 2:73545/122‑1 (MQ=255) ccGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTc > 1:208892/1‑150 (MQ=255) catacgtGGGGATGGAACGGCCGGGCGACTG‑GCTGCGGGCGGTCCGGGTGATATCCCATAGTTTCGCGGCTTTTATCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCCGCTGGTCCGGGTGCTGGTTTTTCa < 2:654096/144‑1 (MQ=255) gCACATGGGGATGGACTGGCCGGCCGACTG‑TCCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGAtctc < 2:1026100/96‑1 (MQ=255) gCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGAtctc > 1:1026100/1‑96 (MQ=255) caTGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCgg > 2:352250/1‑132 (MQ=255) caTGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCgg < 1:352250/132‑1 (MQ=255) ggggATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCa < 2:208892/150‑1 (MQ=255) cTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCgg > 1:940602/1‑120 (MQ=255) cTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCgg < 2:940602/120‑1 (MQ=255) tGGCCGGCCGACTG‑ACCGCGGGCGGGCAGGGTGATATCCAGCAGTTTCGCGGCGTTTTTCGCATCTTCGTAGAAGGTCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTTCAGTACtgctgc < 1:450925/150‑1 (MQ=255) cggccgACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGttttt > 2:803331/1‑127 (MQ=255) cggccgACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGttttt < 1:803331/127‑1 (MQ=255) gccgACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAAAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGcatcagc > 1:789878/1‑148 (MQ=255) acccTG‑ACCGCCCGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGCATCATCgg > 2:508438/4‑150 (MQ=255) ccTG‑ACCGCCCGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGCATCATCgggg > 2:876777/2‑150 (MQ=255) ccTG‑ACCGCCCGCGGTCAGGGTGATATCAAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGAAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGCATCATCgggg > 2:1261225/2‑150 (MQ=255) tG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGCATCATCGGGgtg > 2:1370152/1‑150 (MQ=255) | GGGCCCTTGCTGGTGGCGGGGTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTG‑ACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGCATCATCGGGGTG > NC_002947/1824991‑1825275 |
| 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: ‑ |