Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | Exported | 2,919,372 | G→A | 21.1% | G108G (GGC→GGT) | argI ← | ornithine carbamoyltransferase 1 |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | Exported | 2,919,372 | 0 | G | A | 21.1% | 276.2 / 61.8 | 137 | G108G (GGC→GGT) | argI | ornithine carbamoyltransferase 1 |
Reads supporting (aligned to +/- strand): ref base G (63/45); new base A (18/11); total (81/56) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 8.32e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
Only 100 of 141 total aligned reads displayed.
CATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAT > Exported/2919302‑2919439 | cATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAg > 1:1217205/1‑71 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:4780463/70‑1 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:2973416/70‑1 (MQ=255) gTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgc < 1:571441/70‑1 (MQ=255) tCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:1858072/71‑1 (MQ=255) aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGAt < 1:3962260/70‑1 (MQ=255) aGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa > 1:2758018/1‑71 (MQ=255) ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:241723/68‑1 (MQ=255) ggCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:1413791/68‑1 (MQ=255) gCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACt < 1:1812446/71‑1 (MQ=255) ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACt > 1:2042270/4‑70 (MQ=255) ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACt > 1:306238/4‑70 (MQ=255) ccgttCCACACCGGCACGCCCGCATACTGCGCCAGCGGTTCGACCACTTCCTGGCCGTGACCGCGATACTg < 1:4983946/68‑1 (MQ=255) ccATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTg < 1:1675769/71‑1 (MQ=255) cgttCCACACCGTCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTg > 1:2836535/3‑70 (MQ=255) cATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGa < 1:4742506/71‑1 (MQ=255) gttCCACACCGGCACGCCCGCATACTGCGCCAGCGTATCGACCACTTCCTGGCCGTGACCGCGATACTg < 1:1508771/68‑1 (MQ=255) ttCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGa < 1:3283864/63‑1 (MQ=255) tCCACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtg > 1:2279965/1‑70 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:402945/1‑71 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:2680694/1‑71 (MQ=255) ccATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAc > 1:5014182/1‑71 (MQ=255) ccACACCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAAtgc > 1:3211553/1‑69 (MQ=255) cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATa < 1:4792160/69‑1 (MQ=255) cATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATAcc > 1:5485464/1‑71 (MQ=255) aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgcg < 1:4121044/58‑1 (MQ=255) aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg < 1:1697541/71‑1 (MQ=255) aTACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCg < 1:2367806/71‑1 (MQ=255) aCCGGCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGt > 1:733439/1‑70 (MQ=255) ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTc < 1:3940701/70‑1 (MQ=255) ccGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCa > 1:4518782/1‑71 (MQ=255) ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa < 1:2234140/71‑1 (MQ=255) ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:3176107/1‑71 (MQ=255) ggCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:4488857/1‑71 (MQ=255) gCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATAc < 1:3546077/71‑1 (MQ=255) gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:484841/1‑70 (MQ=255) gCACGCCCGCATACTGCGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATa > 1:5183585/1‑70 (MQ=255) cACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa > 1:10161/1‑71 (MQ=255) gCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATa > 1:3112073/1‑51 (MQ=255) cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGc > 1:78385/1‑70 (MQ=255) cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg < 1:5055038/71‑1 (MQ=255) cTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCg < 1:4496304/71‑1 (MQ=255) gTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc > 1:4983560/1‑69 (MQ=255) gTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGAcc > 1:4695523/1‑69 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCcgcg > 1:159110/1‑41 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg > 1:4119429/1‑71 (MQ=255) tATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATAATGAATACCGTCATACATGCGACCAAg > 1:5192670/1‑71 (MQ=255) aTTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAg < 1:133222/70‑1 (MQ=255) ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGcc > 1:4921986/1‑36 (MQ=255) ttCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGaa > 1:1573367/1‑47 (MQ=255) tCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:5674224/1‑70 (MQ=255) ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcg > 1:832260/1‑71 (MQ=255) ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAc < 1:74845/70‑1 (MQ=255) ccGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAc < 1:949554/70‑1 (MQ=255) cGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACa > 1:975375/1‑56 (MQ=255) cGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcgc < 1:4914136/71‑1 (MQ=255) cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTTAATGCCGTCATACATCCGCCCGAGAAc < 1:383035/69‑1 (MQ=255) cGCCAGCGTTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAAc < 1:1889663/69‑1 (MQ=255) gCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGt < 1:305113/49‑1 (MQ=255) cAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg < 1:4073582/71‑1 (MQ=255) gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg > 1:1392164/1‑69 (MQ=255) gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg > 1:1101333/1‑69 (MQ=255) gtgtTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCggg > 1:3615736/1‑69 (MQ=255) cgtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACATCCGCCCGAGAACCCgcgcgg > 1:1599345/2‑69 (MQ=255) gtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACAtc > 1:4166330/1‑50 (MQ=255) gtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACAtc > 1:1706309/1‑50 (MQ=255) gtTTCGACCACTTCCTGGCCGTGACCGCGATACTGAATGCCGTCATACAtc > 1:2186047/1‑50 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa < 1:4010447/53‑1 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGa < 1:3460941/53‑1 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtg > 1:261763/1‑71 (MQ=255) tttCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgt < 1:2736729/70‑1 (MQ=255) tttCGACAATCTCCTGACAATAGCCGCGATACTGAATACCGTCATAc < 1:1045940/47‑1 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:137224/1‑58 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTc > 1:4688723/1‑71 (MQ=255) tCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTc > 1:161096/1‑71 (MQ=255) cGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:3830768/1‑57 (MQ=255) gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCtt < 1:5474177/71‑1 (MQ=255) gACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCtt < 1:2301822/71‑1 (MQ=255) cAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:5171538/1‑54 (MQ=255) aaTCTCCTGACCATAGCCGCGGTACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTaa > 1:1903331/1‑71 (MQ=255) aaTCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCAcgc > 1:2663031/1‑56 (MQ=255) cTGACCATAGCCGCTATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:4619687/1‑71 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc < 1:1424075/67‑1 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc > 1:1537469/1‑67 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2821532/1‑69 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:5649331/1‑69 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGAct > 1:2343272/1‑71 (MQ=255) cTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGAGTCTTTAATCGAct > 1:772278/1‑71 (MQ=255) tGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGActc > 1:5559379/1‑71 (MQ=255) aCCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:1658580/1‑44 (MQ=255) aCCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCa > 1:4250198/1‑44 (MQ=255) aCCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAgtgt > 1:2735544/1‑56 (MQ=255) ccATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2899789/1‑65 (MQ=255) cATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCttt > 1:242901/1‑70 (MQ=255) aTAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt > 1:612447/1‑71 (MQ=255) tAGCCGCGATACTGAATACCGTCATACATGCGACCAAg < 1:3016552/38‑1 (MQ=255) tAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAt > 1:3135233/1‑70 (MQ=255) gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATc > 1:4397023/1‑58 (MQ=255) gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:2471840/1‑60 (MQ=255) gCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGa > 1:1259896/1‑60 (MQ=255) | CATTGGTCAGGCCATTCCATACCGGCACGCTAGCGTATTCCGCCAGTGTTTCGACAATCTCCTGACCATAGCCGCGATACTGAATACCGTCATACATGCGACCAAGCACGCGGGCAGTGTCTTTAATCGACTCTTTAT > Exported/2919302‑2919439 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |