| 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% | 49.6 / NA | 14 | 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 (8/6); total (8/6) | |||||||||||
ACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGTTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCAT > AM260479/1493197‑1493420 | aCGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAg > 1:133551/1‑134 (MQ=255) cTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGc > 2:549969/1‑133 (MQ=255) aaGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGaa < 1:1081909/123‑1 (MQ=255) aaGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGaa > 2:1081909/1‑123 (MQ=255) ggCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTc < 1:757565/134‑1 (MQ=255) cGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTcgc > 2:1001726/1‑134 (MQ=255) tgaGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCAt > 2:167695/1‑133 (MQ=255) gaGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATc > 1:1157351/1‑133 (MQ=255) gccgccGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCg < 1:549969/134‑1 (MQ=255) cgcgGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACt < 1:167695/134‑1 (MQ=255) cgcCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCAccc > 1:413057/1‑53 (MQ=255) cgcCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGGTCGATTTCAccc < 2:413057/53‑1 (MQ=255) ggCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCaccaacc < 2:133551/133‑1 (MQ=255) gCCTGCTGCCGTGGCCGAAGGTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCAt > 1:405168/1‑134 (MQ=255) | ACGTGCAGGGCTACGTCAAGGGCGTGATGAGCGGCCAGGCCGCCGCGCCCGCACAGGCCGCCGCGGCTGGCGCCGGTGGTGGCGAGCTCGGCCTGCTGCCGTGGCCGAAGTTCGATTTCACCCGCTTCGGCGAGGTCGAAAGCAAGGCCCTGTCGCGCATCAAGAAGATCTCGGGTGCCAACCTGCACCGCAACTGGGTCATGATCCCGCACGTCACCAACCAT > AM260479/1493197‑1493420 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 35 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |