Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | Exported | 1,522,743 | T→C | 63.4% | I121V (ATC→GTC) | pdxB ← | erythronate‑4‑phosphate dehydrogenase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | Exported | 1,522,743 | 0 | T | C | 63.4% | 79.8 / 82.9 | 82 | I121V (ATC→GTC) | pdxB | erythronate‑4‑phosphate dehydrogenase |
Reads supporting (aligned to +/- strand): ref base T (17/13); new base C (32/20); total (49/33) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 8.15e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
GTAAGGTTTTAATCCCTAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATCAGCAGGGAGGAGAAAACATAT > Exported/1522674‑1522813 | gTAAGGTTTTAATCCCTAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATc < 1:751492/71‑1 (MQ=255) aGGTTTTAATCCCTAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATcc > 1:3318087/1‑69 (MQ=255) ttAATCCCTAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCg > 1:320595/1‑70 (MQ=255) tAATCCCTAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGt < 1:1622867/70‑1 (MQ=255) aTCCCTAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTAc < 1:1299862/70‑1 (MQ=255) tCCCTAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACgg < 1:2168172/71‑1 (MQ=255) ccTAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGt < 1:1636741/70‑1 (MQ=255) cTAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTc > 1:1882886/1‑70 (MQ=255) cTAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCg > 1:2665838/1‑71 (MQ=255) tAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCg > 1:495690/1‑70 (MQ=255) tAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCAcc > 1:3275752/1‑61 (MQ=255) tAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTc > 1:1145192/1‑69 (MQ=255) tAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCg > 1:3243338/1‑70 (MQ=255) tAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCg > 1:3069666/1‑70 (MQ=255) tAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCg > 1:2561306/1‑70 (MQ=255) aaCGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGt > 1:568325/1‑70 (MQ=255) cGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACa < 1:3503444/71‑1 (MQ=255) cGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACa < 1:3507739/71‑1 (MQ=255) cGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACa < 1:1935525/71‑1 (MQ=255) ccAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGa > 1:705251/1‑70 (MQ=255) cAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGaaa < 1:1140828/71‑1 (MQ=255) cAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGaaa < 1:3484455/71‑1 (MQ=255) cAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGaa < 1:1669727/70‑1 (MQ=255) cAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGaa < 1:3050053/70‑1 (MQ=255) tCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGt < 1:3311565/51‑1 (MQ=255) tCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATc > 1:2797662/1‑71 (MQ=255) cgcgCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATc > 1:1061870/1‑70 (MQ=255) cgcgCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATc > 1:2074269/1‑70 (MQ=255) gcgcCTGCAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCa > 1:681693/1‑71 (MQ=255) cTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCa < 1:1572102/67‑1 (MQ=255) cTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCa < 1:1790274/67‑1 (MQ=255) cTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCATcgc > 1:2998631/1‑71 (MQ=255) gCAATCGACGGCAAACGTTACCAACGCCCACGACCCCCACCGTACGGt < 1:1543617/48‑1 (MQ=38) cAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGtt > 1:280708/1‑71 (MQ=255) cAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCAATCGCGt > 1:2551685/1‑70 (MQ=255) cAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATcgcg < 1:850328/69‑1 (MQ=255) cAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATcgcg < 1:1845685/69‑1 (MQ=255) cAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGtt > 1:3204896/1‑71 (MQ=255) cAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGtt > 1:488367/1‑71 (MQ=255) cAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGtt > 1:1910991/1‑71 (MQ=255) cAATCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGt < 1:654662/70‑1 (MQ=255) aaTCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGtt < 1:3001286/70‑1 (MQ=255) aTCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCAt > 1:2001598/1‑63 (MQ=255) aTCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCAt > 1:1317100/1‑63 (MQ=255) aTCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCAt > 1:1550723/1‑63 (MQ=255) aTCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCg > 1:2926448/1‑71 (MQ=255) aTCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCg > 1:1164373/1‑71 (MQ=255) aTCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCg < 1:2193113/71‑1 (MQ=255) tCGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCgg < 1:2445574/71‑1 (MQ=255) cGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATc > 1:2536206/1‑58 (MQ=255) cGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCgg > 1:2740491/1‑70 (MQ=255) cGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCgg > 1:2661078/1‑70 (MQ=255) cGACGTCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCgg > 1:5513/1‑70 (MQ=255) tCCAACGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACa < 1:572312/44‑1 (MQ=255) cAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCAt > 1:3588069/1‑70 (MQ=255) aCGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcag > 1:1623102/1‑71 (MQ=255) aCGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATc > 1:2284928/1‑49 (MQ=255) aCGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcag < 1:833647/71‑1 (MQ=255) aCGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcag > 1:99367/1‑71 (MQ=255) aCGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcag > 1:1715993/1‑71 (MQ=255) cGTTACCAACGCCCACGATCCCCACCGTACGGTCGTa > 1:2080931/1‑37 (MQ=255) cGTTACCAACGCCCACGATCCCCACCGTACGGTCGTa > 1:2545208/1‑37 (MQ=255) cGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcagc < 1:206198/71‑1 (MQ=255) cGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcag > 1:909817/1‑70 (MQ=255) cGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcag > 1:1874436/1‑70 (MQ=255) cGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcag > 1:520448/1‑70 (MQ=255) cGTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcag > 1:1092070/1‑70 (MQ=255) gTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcagca < 1:215492/71‑1 (MQ=255) gTTACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcagc < 1:3441708/70‑1 (MQ=255) ttACCACCGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcagcag < 1:3200834/71‑1 (MQ=255) tACCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCgg < 1:3011325/57‑1 (MQ=255) aCCAACGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATCAGCAgg < 1:886750/70‑1 (MQ=255) ccAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATCAGCAGgga < 1:2629142/71‑1 (MQ=255) ccAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATCAGCAGgga < 1:2151110/71‑1 (MQ=255) aaCGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATCAGCAGggag > 1:3711207/1‑70 (MQ=255) cGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATCAGCAGggag > 1:3413960/1‑68 (MQ=255) cGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATc > 1:2180294/1‑39 (MQ=255) cGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATc > 1:104781/1‑39 (MQ=255) cGCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATc > 1:1509714/1‑39 (MQ=255) gCCCACGACCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATCAGCAGGgaggag > 1:3389707/1‑70 (MQ=255) aCGATCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATcagca > 1:1849376/1‑58 (MQ=255) cGACCCCCACCGTACGGTCGTACAGTGAAAATCCATcgcg < 1:977278/40‑1 (MQ=255) tCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATCAGCAGGGAGGAGAAAACatat < 1:2910933/71‑1 (MQ=255) | GTAAGGTTTTAATCCCTAACGCTTCCAGTCGCGCCTGCAATCGACGTCCAACGTTACCAACGCCCACGATCCCCACCGTACGGTCGTACAGTGAAAATCCATCGCGTTCGGCAAGCATCAGCAGGGAGGAGAAAACATAT > Exported/1522674‑1522813 |
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: ‑ |