| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,919,026 | C→T | 16.8% | E224K (GAA→AAA) ‡ | argI ← | ornithine carbamoyltransferase 1 |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,919,026 | 0 | C | T | 16.8% | 246.1 / 36.0 | 107 | E224K (GAA→AAA) ‡ | argI | ornithine carbamoyltransferase 1 |
| Reads supporting (aligned to +/- strand): ref base C (52/37); new base T (6/12); total (58/49) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.96e-02 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.65e-01 | |||||||||||
Only 100 of 112 total aligned reads displayed.
CGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTC > Exported/2918956‑2919095 | cGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTc < 1:70331/71‑1 (MQ=255) cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc > 1:5491266/1‑71 (MQ=255) cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc < 1:3629874/71‑1 (MQ=255) cccATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTccc < 1:3060935/71‑1 (MQ=255) cccACTTCTCTTTGGCCTCGCCCATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAAcgc < 1:5240011/69‑3 (MQ=255) cATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCtt < 1:1871039/71‑1 (MQ=255) ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc > 1:4237013/1‑71 (MQ=255) ttCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgc > 1:1655064/1‑71 (MQ=255) ttttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGa < 1:2528728/68‑1 (MQ=255) ttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACa < 1:4651977/68‑1 (MQ=255) ttGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCt > 1:5557643/1‑71 (MQ=255) gCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCtt < 1:2004203/70‑1 (MQ=255) cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCtt < 1:2252240/69‑1 (MQ=255) cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtc < 1:4167243/70‑1 (MQ=255) cTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtc < 1:220242/70‑1 (MQ=255) gcccATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgt < 1:5155262/68‑1 (MQ=255) ccccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagtca < 1:1016743/71‑1 (MQ=255) ccccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtcagt > 1:2729781/1‑69 (MQ=255) ccATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcg < 1:5627018/54‑1 (MQ=255) cATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgtcagag > 1:4499752/1‑69 (MQ=255) cATCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgtcagag > 1:2895963/1‑69 (MQ=255) cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt > 1:3795003/1‑59 (MQ=255) cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt > 1:4784833/1‑59 (MQ=255) cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt > 1:1293607/1‑59 (MQ=255) cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCg < 1:771674/71‑1 (MQ=255) cATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCg < 1:1275353/71‑1 (MQ=255) aTCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTcgcg > 1:5672435/1‑54 (MQ=255) aTCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt < 1:4560752/71‑1 (MQ=255) aTCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt < 1:1037820/71‑1 (MQ=255) aTCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTACCTTcgcg > 1:1802820/1‑54 (MQ=255) tCGACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGt > 1:2500106/1‑70 (MQ=255) tCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt < 1:2239125/70‑1 (MQ=255) tCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGt < 1:5486764/70‑1 (MQ=255) tCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTa < 1:915455/71‑1 (MQ=255) gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtccgtcag > 1:5216762/1‑65 (MQ=255) gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtcc < 1:688040/60‑2 (MQ=255) gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtcc < 1:273483/60‑2 (MQ=255) gACACCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTtcc < 1:1093968/60‑2 (MQ=255) gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa < 1:4719430/70‑1 (MQ=255) gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa > 1:201459/1‑70 (MQ=255) gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa < 1:5400366/70‑1 (MQ=255) gACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa < 1:461701/70‑1 (MQ=255) acacCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAatt < 1:136832/71‑2 (MQ=255) cacCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAatt < 1:4678501/70‑2 (MQ=255) cacCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAatat < 1:1667379/71‑1 (MQ=255) acCCACACGTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAAtttt < 1:446908/71‑1 (MQ=255) acCCACACGTCGGTATAGATAAAGTCAGCGCCCTTAACGcct > 1:5390758/1‑41 (MQ=19) ccACACATCGGTATAGATAAAGTCAGCACCTTCAACTc < 1:1558059/38‑1 (MQ=255) acacgTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAATTTTccc < 1:502133/70‑1 (MQ=255) cacgTCGGTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTAATTTTcccgc < 1:4008764/71‑3 (MQ=255) tCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAtt > 1:1991553/1‑71 (MQ=255) tCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATACCCACCAtt > 1:889811/1‑71 (MQ=255) cGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAttt > 1:4585453/1‑71 (MQ=255) cGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAtt > 1:342343/1‑70 (MQ=255) ggTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAttt < 1:2636554/70‑1 (MQ=255) gTATAGATAAAGTCCGCGCCCTTAACGCCTGCCGCCACGTCTTCCGTCAGAGTaa < 1:4481423/55‑1 (MQ=255) tataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa > 1:1914291/1‑54 (MQ=255) tataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa > 1:1363853/1‑54 (MQ=255) ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa > 1:4385411/1‑53 (MQ=255) ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTaa > 1:2976931/1‑53 (MQ=255) ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGc < 1:2386782/70‑1 (MQ=255) ataGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCt > 1:3921898/1‑71 (MQ=255) taGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTtca > 1:4240435/1‑42 (MQ=255) taGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCt < 1:2102710/70‑1 (MQ=255) aGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt > 1:4174306/1‑36 (MQ=255) aGATAAAGTCAGCACCTTCAACTCCCTTCGCGACAt > 1:1292258/1‑36 (MQ=255) aGATAAAGTCAGCACCTTCAACT‑CCTTCGCGACAt > 1:4044749/1‑35 (MQ=37) gATAAAGTCAGCACCTTCATCTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCtgt < 1:3238658/70‑1 (MQ=255) gATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGc > 1:4195790/1‑46 (MQ=255) gATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCtgtg > 1:2439887/1‑71 (MQ=255) aTAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGc > 1:114477/1‑71 (MQ=255) aTAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGc > 1:5286715/1‑71 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAatat > 1:3745233/1‑51 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata > 1:5605548/1‑50 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata > 1:1609225/1‑50 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata > 1:1751562/1‑50 (MQ=255) tAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAata > 1:3727373/1‑50 (MQ=255) aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAttt > 1:3638643/1‑61 (MQ=255) aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGc > 1:2875830/1‑69 (MQ=255) aaaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGc > 1:2641868/1‑69 (MQ=255) aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAg > 1:935351/1‑71 (MQ=255) aaGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAg < 1:4492103/71‑1 (MQ=255) aGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGgcgc < 1:5380300/71‑1 (MQ=255) aGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGgcgc > 1:1041422/1‑71 (MQ=255) aCCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGgc < 1:5105152/66‑1 (MQ=255) aCCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCgg < 1:35028/70‑1 (MQ=255) ccTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCAtttt < 1:208186/52‑1 (MQ=255) cTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATAtt < 1:5339524/40‑1 (MQ=255) cTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCAt > 1:4823614/1‑71 (MQ=255) ttCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGcaa > 1:673862/1‑57 (MQ=255) ttCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCa > 1:666973/1‑59 (MQ=255) ttCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCa > 1:4510377/1‑59 (MQ=255) ttCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCAtt > 1:1386446/1‑71 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAat > 1:4782354/1‑35 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTc > 1:5547072/1‑39 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTc > 1:2743851/1‑71 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTc > 1:4715648/1‑71 (MQ=255) tCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTc > 1:4996846/1‑71 (MQ=255) cAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCa > 1:5480786/1‑57 (MQ=255) cAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCAtt < 1:1318716/69‑1 (MQ=255) | CGTTCCGCCCATTTCTCTTTTGCTTCCCCCATCGACACCCACACATCGGTATAGATAAAGTCAGCACCTTCAACTCCCTTCGCGACATCTTCAGTCAGCGTAATATTCCCACCATTTTGCTGTGCCAGGGCGCGGCATTC > Exported/2918956‑2919095 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |