| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | AM260479 | 1,493,307 | T→G | F319V (TTC→GTC) | pdhB → | dihydrolipoamide acetyltransferase (E2) component of pyruvate dehydrogenase complex |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | AM260479 | 1,493,307 | 0 | T | G | 100.0% | 90.2 / NA | 24 | F319V (TTC→GTC) | pdhB | dihydrolipoamide acetyltransferase (E2) component of pyruvate dehydrogenase complex |
| Reads supporting (aligned to +/- strand): ref base T (0/0); new base G (12/12); total (12/12) | |||||||||||
GCCGTATCACCCAGGAAGACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGTTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGAAGCGGACAT > AM260479/1493179‑1493434 | gCCGTATCACCCAGGAAGACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGAt < 1:166597/134‑1 (MQ=255) ccGTATCACCCAGGAAGACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGAtt < 2:92359/134‑1 (MQ=255) aTCACCCAGGAAGACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCAc > 2:1003140/1‑134 (MQ=255) aCGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAg > 2:903614/1‑134 (MQ=255) aaGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCt > 2:456/1‑134 (MQ=255) aaGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCt > 1:596984/1‑134 (MQ=255) cGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTc < 1:226070/106‑1 (MQ=255) cGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTc > 2:226070/1‑106 (MQ=255) gTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGAtt < 1:295494/94‑1 (MQ=255) gTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGAtt > 2:295494/1‑94 (MQ=255) gcgcCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGc > 2:765851/1‑134 (MQ=255) cccGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCaa > 1:951204/1‑134 (MQ=255) cccGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCaa < 1:399380/134‑1 (MQ=255) gCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCt < 1:456/134‑1 (MQ=255) ggCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCAcc > 2:263658/1‑134 (MQ=255) ggCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTggg > 1:445197/1‑134 (MQ=255) ccGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATc < 1:1003140/134‑1 (MQ=255) gtggCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCAc < 2:951204/134‑1 (MQ=255) gCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAagaaga < 1:723675/78‑1 (MQ=255) gCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAagaaga > 2:723675/1‑78 (MQ=255) gCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCAt > 1:341418/1‑134 (MQ=255) ccGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGaa < 1:467268/132‑1 (MQ=255) ccGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGAAGCGGACAt < 1:765851/134‑1 (MQ=255) ccGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGAAGCGGACAt < 2:445197/134‑1 (MQ=255) | GCCGTATCACCCAGGAAGACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGTTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCATGACGAAGCGGACAT > AM260479/1493179‑1493434 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |