| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 3,987,586 | 2 bp→GC | coding (814‑815/963 nt) | hemC ← | porphobilinogen deaminase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 3,987,586 | 0 | C | G | 99.1% | 291.8 / NA | 116 | R272A (CGG→GCG) | hemC | porphobilinogen deaminase |
| Reads supporting (aligned to +/- strand): ref base C (0/1); new base G (72/43); total (72/44) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.79e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
| * | NC_000913 | 3,987,587 | 0 | G | C | 100.0% | 311.8 / NA | 116 | R272A (CGG→GCG) | hemC | porphobilinogen deaminase |
| Reads supporting (aligned to +/- strand): ref base G (0/0); new base C (72/44); total (72/44) | |||||||||||
Only 100 of 116 total aligned reads displayed.
CCCCATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCCGGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCTGA > NC_000913/3987519‑3987654 || ccccATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGAcc > 2:4532565/1‑76 (MQ=255)ccccATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGAcc > 1:240355/1‑76 (MQ=255)ccccATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGAcc > 2:647775/1‑76 (MQ=255) cccATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCa > 1:3925119/1‑76 (MQ=255) ccATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCac > 2:754168/1‑75 (MQ=255) cATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAgc < 2:3010639/76‑1 (MQ=255) cATTAGTTCGGCATCTAGCGGCGCACCGCGGCGTTCACCGCGAATAATCTTCGAGCCGTCCGGCGCGCCGACCAgc < 1:2286474/76‑1 (MQ=255) aTTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAgcg < 1:1167683/76‑1 (MQ=255) aTTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAgcg > 2:1989374/1‑76 (MQ=255) tttGTTCGGCATCTTGAGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCCGCGCGCCGACCAgcgc > 1:4603903/1‑76 (MQ=255) tGTTCTGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcac < 1:4733061/76‑1 (MQ=255) tGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcac > 2:3674220/1‑76 (MQ=255) tGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcac < 2:547649/76‑1 (MQ=255) tGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcac < 1:2251008/76‑1 (MQ=255) tGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcac < 2:4613909/76‑1 (MQ=255) ggtCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAAcgcacg < 2:1974812/74‑1 (MQ=255) gTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcacg > 2:4333825/1‑76 (MQ=255) ttCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcccgc > 2:2665589/1‑76 (MQ=255) ttCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcacgc > 2:2432049/1‑76 (MQ=255) ttCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcacgc > 1:620383/1‑76 (MQ=255) tCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcacgca > 1:3673528/1‑76 (MQ=255) ggCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGc < 1:4732092/76‑1 (MQ=255) ggCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGc > 1:3402502/1‑76 (MQ=255) cATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCCCGCAGCCa > 2:4638118/1‑76 (MQ=255) aTCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCCCGCACCCAg > 1:4602671/1‑76 (MQ=255) aTCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAg > 1:4362921/1‑76 (MQ=255) tCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGa > 1:2014912/1‑76 (MQ=255) ttGCGGCGCACCGCGGCGGTCACCACGTATAATCTGCGAACCGTCCGGCGCGTCGCGCAGCGCACGCAGCCAGCtt > 1:3917177/1‑76 (MQ=255) tGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAg > 1:2595107/1‑72 (MQ=255) tGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGAttt > 1:3869907/1‑76 (MQ=255) tGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGAttt > 1:1205480/1‑76 (MQ=255) tcggcgCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGTCGCGCCTACCCGCGCACGCAGCCAGACTTc > 2:438121/2‑76 (MQ=255) cggcgCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCg < 2:1262171/76‑1 (MQ=255) cgcACCGCGGCGTTCACCGCGAATAATCTACGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCa > 2:4326907/1‑76 (MQ=255) gcACCGCGGCGTTCACCGCGACTACTCTGCGAGCCGTCCGGCGCGCCGACCCGCGCACGCAGCCAGATTTCGCCAt < 2:3237960/76‑1 (MQ=255) gcACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCAt > 2:2284444/1‑76 (MQ=255) gcACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCAt > 1:4288/1‑76 (MQ=255) gcACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCAt < 2:2853034/76‑1 (MQ=255) gcACCGCGGCGTTCACCGCGAATAAGCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCAt < 2:896181/76‑1 (MQ=255) gcACCGCGGCGTTCACAGCGAATAATCGGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCAt < 2:2854103/76‑1 (MQ=255) cACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATc < 1:3067398/76‑1 (MQ=255) cACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATc < 2:2173290/76‑1 (MQ=255) cACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCACCCAGACTTCGCCATc > 2:2025037/1‑76 (MQ=255) cACCGCGGCGTTCACCGAGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGACAGATTTCGCCaga > 1:629622/1‑74 (MQ=255) cccGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCa < 2:1117483/75‑1 (MQ=255) aCCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCa > 1:4644368/1‑76 (MQ=255) aCCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCa > 1:2150952/1‑76 (MQ=255) aCCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCa > 1:3756980/1‑76 (MQ=255) aCCGCGGCGTTCACCGCGAATAATCTGCGAACAGTCCGGCGCGCCGACCAGCGCCCGCAGCCAGATTTAGCCATCa > 1:1522422/1‑76 (MQ=255) ccGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCaa > 2:4167923/1‑76 (MQ=255) cgcgGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAAt > 2:4108274/1‑76 (MQ=255) cggcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATaa > 1:432282/1‑76 (MQ=255) cggcgTTCACCGCGAATAATCTGCGAACCGGCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATaa > 2:1331222/1‑76 (MQ=255) ggcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCCCGCAGCCAGATTTCGCCATCAATAAg > 2:3292867/1‑76 (MQ=255) gcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGc > 2:3583519/1‑76 (MQ=255) cgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATc < 1:801080/68‑1 (MQ=255) cgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATc > 2:801080/1‑68 (MQ=255) cgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCt > 1:3730097/1‑76 (MQ=255) cgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCt > 1:2025811/1‑76 (MQ=255) gTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTc > 1:103089/1‑76 (MQ=255) gTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAACCTc > 1:101950/1‑76 (MQ=255) ttCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCCTCAATAAGCTCg > 2:2310795/1‑76 (MQ=255) ttCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCACTAACCTCg > 2:3547638/1‑76 (MQ=255) ttCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCg < 2:1490260/76‑1 (MQ=255) tCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCgg > 2:898659/1‑76 (MQ=255) tCACCGCGAAGAACCTGCGAACCGGCCGCCGCGCCGAAGAGCGCACGCAGCGAGACGGCGCCATCAAGAAGCTCgt > 1:3222483/1‑75 (MQ=255) cccGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCg < 1:676270/75‑1 (MQ=255) aCCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCg < 1:1448902/76‑1 (MQ=255) aCCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCg > 1:4598691/1‑76 (MQ=255) aCCGCGAATAAGCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATCACGCCATCAATAAGCTCGACg > 1:2440849/1‑76 (MQ=255) gcgAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAg < 2:2281322/76‑1 (MQ=255) gcgAATAATCTGCGAACCGTCCGGCGCACAGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAg > 2:1874525/1‑76 (MQ=255) cgAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGc < 1:55629/76‑1 (MQ=255) gAATAATCTGCGAACCGTCCGGCGCGCCGCCCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCt < 2:4179554/76‑1 (MQ=255) gAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCCCGCAGCCAGACTCCGCCATCAATAAGATCGGCGTaccc > 2:4815469/1‑73 (MQ=255) ataatCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTAc > 1:3113826/1‑76 (MQ=255) ataatCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTAc > 2:1772192/1‑76 (MQ=255) taatCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTAcc < 2:3058351/76‑1 (MQ=255) taatCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTAcc < 1:3451648/76‑1 (MQ=255) taatCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTAcc < 2:1258613/76‑1 (MQ=255) aatCTGCGACCCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCa < 1:767459/76‑1 (MQ=255) tCTGCGAACCGTCCGGCGCGCCGAACCGCGCACGCAGCCACATTTGGGCATAAATAAGCTCGGCGTAGCTACCAAt > 2:2784093/1‑76 (MQ=255) cTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAg < 2:192655/67‑1 (MQ=255) cTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAg > 1:192655/1‑67 (MQ=255) cTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAAtt > 1:4376002/1‑76 (MQ=255) cTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAAtt < 2:4644368/76‑1 (MQ=255) tGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTg > 2:3196266/1‑76 (MQ=255) cgCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTg < 2:2279603/75‑1 (MQ=255) gCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTgg < 2:866703/76‑1 (MQ=255) gAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCa > 1:2199625/1‑76 (MQ=255) aCCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCAcc < 1:2527330/76‑1 (MQ=255) aCCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCAcc > 1:2238118/1‑76 (MQ=255) ccGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCt < 1:3080102/76‑1 (MQ=255) cGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCTg > 2:1317054/1‑76 (MQ=255) gTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCACTAAGCTCGGCGCAGCTACCAATTGGCAcccca > 2:1161045/1‑73 (MQ=255) gTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCTGa < 1:3864820/76‑1 (MQ=255) gTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCTGa < 2:3912905/76‑1 (MQ=255) gTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCTGa > 1:1183671/1‑76 (MQ=255) gTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCTGa < 1:4167923/76‑1 (MQ=255) gTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCTGa > 1:4293278/1‑76 (MQ=255) || CCCCATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCCGGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCTGA > NC_000913/3987519‑3987654 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 19 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |