| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913 | 3,987,822 | 2 bp→CG | coding (578‑579/963 nt) | hemC ← | porphobilinogen deaminase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 3,987,822 | 0 | G | C | 99.2% | 359.8 / NA | 132 | G193A (GGC→GCG) | hemC | porphobilinogen deaminase |
| Reads supporting (aligned to +/- strand): ref base G (0/0); major base C (75/56); minor base A (1/0); total (76/56) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.93e-01 | |||||||||||
| * | NC_000913 | 3,987,823 | 0 | C | G | 100.0% | 354.8 / NA | 131 | G193A (GGC→GCG) | hemC | porphobilinogen deaminase |
| Reads supporting (aligned to +/- strand): ref base C (0/0); new base G (75/56); total (75/56) | |||||||||||
Only 100 of 132 total aligned reads displayed.
AATCATCAAGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAAGCCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATCGTA > NC_000913/3987752‑3987890 || tatcatcAAGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGgc > 2:5217225/2‑76 (MQ=255) catcaAGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGCGGCAACCCGgcgcc > 2:74195/1‑75 (MQ=255) cagcaAGGCGGCATTCAATCCCCGCCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGcgcg < 2:680260/73‑1 (MQ=255) aacaAGGCGGCATGCAATACCCACCGCCCCTTGTCCTCCCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGa < 2:5388420/74‑1 (MQ=255) tcaAGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGaa > 1:1583045/1‑76 (MQ=255) caAGGCGCCATTCAATCCCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAAt < 1:1217834/76‑1 (MQ=255) agggcggcATTCAATCCCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATa < 1:2594515/74‑1 (MQ=255) gcgccATTCACTCCCCCCCGCGCCTTGTCCTACCTCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGt < 1:1690981/76‑1 (MQ=255) gggcATTCAATCCCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTg < 2:1763654/75‑1 (MQ=255) cATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGAcc > 2:4635428/1‑75 (MQ=255) aTTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGACTACGTCAcac > 2:382596/1‑74 (MQ=255) aTTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGAGACTc > 2:679581/1‑76 (MQ=255) aTTCAATACCCACCGCACCTTGTCCTACAGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTc > 1:87280/1‑76 (MQ=255) aTTCAATACCCACCGCACCTTGTCCTAACGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGCGACTc > 1:4083372/1‑76 (MQ=255) ttCAATCCCCACGGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTcc < 2:1814803/76‑1 (MQ=255) tCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCa > 2:4632452/1‑76 (MQ=255) tCAATACCCACCGCACCTTGACCCACCTCCGTAATAGACACCTCTGTTGGCACCGCGGCGCTACTACGTGACTccc < 1:101953/76‑2 (MQ=255) cagtACCCACCTCCCCTTGTCCTACCGCCGGAGGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAg < 1:3648393/73‑1 (MQ=255) cAATCCCCCCCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAg < 2:4947778/76‑1 (MQ=255) cAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAg > 2:4134365/1‑76 (MQ=255) cAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAg < 1:1361043/76‑1 (MQ=255) aaTCCCCCCCGCCCCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGa < 2:2644637/76‑1 (MQ=255) gtccccACCGCACATTGTCGCGCCGTCGGAAGAGAAATGTCGGGTGGCAACGCGGCGCGAATACGTTTCTCCAGAc < 2:3176476/73‑1 (MQ=255) tACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGAcc < 2:4185718/76‑1 (MQ=255) ccACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTaa < 1:1165725/76‑1 (MQ=255) cACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGACTACGTGACTCCCGCCCtcac > 2:386190/1‑73 (MQ=255) cGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGt > 2:4726171/1‑76 (MQ=255) gCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACgct > 1:832464/1‑74 (MQ=255) gCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGtt > 2:1674193/1‑76 (MQ=255) gCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGtt > 1:4028265/1‑76 (MQ=255) cACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGttt > 2:3930339/1‑76 (MQ=255) cACCTGTTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGttt < 2:4074574/76‑1 (MQ=255) cccTTTTCCTACCGCCGGCAGAGAAATCTCGGGTGGCAACGCGGCGCGAATGCGTGACTCCAGACCTAAACGtttt < 1:4556282/75‑1 (MQ=255) cccTTGTCCTCCCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGtttt < 2:4928443/75‑1 (MQ=255) cccTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGtttt < 2:3075731/75‑1 (MQ=255) aCCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTACACGtttt > 2:3521641/1‑76 (MQ=255) aCCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGtttt > 2:5523159/1‑76 (MQ=255) cTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAg < 1:3133851/76‑1 (MQ=255) ttGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGt > 1:3689074/1‑76 (MQ=255) ttGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGt > 1:4317768/1‑76 (MQ=255) ttGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGt > 2:1684082/1‑76 (MQ=255) ttGTCCTACCGCCGGAAGAGAAAACTCGGGGGGAAACGCGGCGCGAATACGTGACTCCAGACCTACACGTTTTAgc > 2:4031006/1‑75 (MQ=255) tGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTc < 2:2709851/76‑1 (MQ=255) tGTCCTACCGCCGGAAGAGAAAGCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTc < 1:1845126/76‑1 (MQ=255) tGTCCTACCGCCGGAAGAGAAAGCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTc < 1:1900018/76‑1 (MQ=255) gTCCTGCCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTcc < 2:5411869/76‑1 (MQ=255) gTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCGGACCTAAACGTTTTAGTcc < 2:1888071/76‑1 (MQ=255) gTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTcc > 1:4659338/1‑76 (MQ=255) gTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCCAAACGTTTTAGccc > 2:4901107/1‑76 (MQ=255) tCCTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCg < 1:587836/76‑1 (MQ=255) cTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGc > 1:1001661/1‑76 (MQ=255) cTACCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGc > 1:3073271/1‑76 (MQ=255) aCCGCGGAAAGGGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACGTAAACGTTTTCGTCCGGCTa < 2:1506948/76‑1 (MQ=255) aCCGCCGGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCCGcca > 2:546600/1‑74 (MQ=255) cgccgTAAGAGAGATCTCGGGTGGCAACGCGGCGCGAATACTTGGCTCCAGACCTAAACTTTTTAGTCCGGCTGCg < 1:1236665/76‑1 (MQ=255) cgccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACg > 1:4461627/1‑76 (MQ=255) cgccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACg < 2:4075492/76‑1 (MQ=255) cgccgGAAGAGAAATCTCGGGCGCCAACGACCCGCCAATACGTCACCCCAGACCTAAACGTTTTAGCCCGGCCACg > 2:1351840/1‑76 (MQ=255) gccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACgg > 1:493245/1‑76 (MQ=255) gccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACgg > 2:4396910/1‑76 (MQ=255) gccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACgg > 1:5808137/1‑76 (MQ=255) gccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACgg < 1:997897/76‑1 (MQ=255) gccgGAAGAGAAATCTCGGGGGGCAACGCGGCGCGAATACGCGACTCCAGACCTAAACGTTTTAGTCCGGCTACgg > 1:5639617/1‑76 (MQ=255) gcaggAAGAGAAATCTCGGGGGGCAACGCGGCGCGAATACGTCACTCCAGACCTAAACGTTTTAGTCCGGCTACgg > 1:5681322/4‑76 (MQ=255) ccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGc < 2:5744454/76‑1 (MQ=255) ccgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGc > 1:3308480/1‑76 (MQ=255) cgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCa < 1:2525121/76‑1 (MQ=255) cgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCa > 1:2241420/1‑76 (MQ=255) cgGAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTACAGACCTAAACGTTTTAGTCCGGCTACGGCa > 1:345527/1‑76 (MQ=255) ggAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCaa > 2:1025606/1‑76 (MQ=255) ggAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCaa > 2:5139475/1‑76 (MQ=255) ggAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCaa < 1:2417546/76‑1 (MQ=255) ggAAGAGAAATCCGGGGGGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCaa < 2:348818/76‑1 (MQ=255) gAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCCAg > 2:3640240/1‑76 (MQ=255) gAAGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAg > 2:4194222/1‑76 (MQ=255) aaGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAgc > 2:4782062/1‑75 (MQ=255) aaGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGa > 2:5158292/1‑76 (MQ=255) aaGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGa > 1:3340383/1‑76 (MQ=255) aaGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGa > 1:266191/1‑76 (MQ=255) aaGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGa > 2:4478957/1‑76 (MQ=255) aaGAGAAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGa < 2:4327992/76‑1 (MQ=255) gagaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAat < 2:2844997/76‑1 (MQ=255) gagaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAat < 2:3134817/76‑1 (MQ=255) gagaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAat < 1:5640396/76‑1 (MQ=255) gagaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAat > 1:598595/1‑76 (MQ=255) gagaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAat > 2:4743108/1‑76 (MQ=255) gaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCACGAatca > 1:1437316/1‑74 (MQ=255) gaAATCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAatga > 1:3777530/1‑76 (MQ=255) gaAATCTCGGGTGGCAACGCGGCGCGAATACCTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAatga > 2:3897526/1‑76 (MQ=255) aaaTCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAatgat < 1:4759487/76‑1 (MQ=255) aaaTCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAatgat > 1:5589050/1‑76 (MQ=255) aaaTCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAatgat > 1:1554759/1‑76 (MQ=255) agtctcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAatgatg < 2:3653708/74‑1 (MQ=255) aaTCTCGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAatgatg > 1:5022080/1‑76 (MQ=255) tctcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTGCGGCAAGAATGATGGc < 2:3009058/76‑1 (MQ=255) tcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCAt > 1:918287/1‑76 (MQ=255) tcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCAt > 1:981230/1‑76 (MQ=255) tcGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCAt > 1:5314379/1‑76 (MQ=255) cGGGTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATc < 1:1128623/76‑1 (MQ=255) gggTGGCAACGCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATCg > 1:3495843/1‑76 (MQ=255) || AATCATCAAGGCGGCATTCAATACCCACCGCACCTTGTCCTACCGCCGGAAGAGAAATCTCGGGTGGCAAGCCGGCGCGAATACGTGACTCCAGACCTAAACGTTTTAGTCCGGCTACGGCAAGAATGATGGCATCGTA > NC_000913/3987752‑3987890 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 6 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |