Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,183,136 | G→T | 57.7% | R637L (CGT→CTT) | rpoB → | RNA polymerase, beta subunit |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 4,183,136 | 0 | G | T | 57.7% | 4.6 / 32.5 | 33 | R637L (CGT→CTT) | rpoB | RNA polymerase, beta subunit |
Reads supporting (aligned to +/- strand): ref base G (3/11); new base T (7/12); total (10/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.55e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.79e-01 |
CGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGAACAT > NC_000913_3_hsa_tpiA/4182995‑4183280 | cGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCaaa < 1:325473/149‑1 (MQ=255) cGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCaaa < 1:222957/149‑1 (MQ=255) tATCGTAAAGTGACCGACGGTGTTGTAACGGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAATACCTGGTAACTTGCCTTAGCAAAgg < 1:57424/149‑1 (MQ=255) gaTCGGAAAGTGACCGCCTGTGTTGTAACTGTCGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTCCGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGTCAACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAgg < 2:65823/148‑1 (MQ=255) gTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAg < 1:230549/149‑1 (MQ=255) gTGACCGACGGTGTTGTAACGGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAg < 1:176681/149‑1 (MQ=255) ggTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAg > 1:609549/1‑149 (MQ=255) ggTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAAACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAg > 1:507752/1‑149 (MQ=255) ctgctgtAACTGACATTATTTATTTCCTCTCTTCTATCTAAGAAGTCTACTACTTTATCGCCCAGTCAAACTCCAACTTCGATGAAGAAGCCCACTTCGTACAACACTTGGTCACTTTCCGTAGCAAAGGCGAATCCAGCTTGTTCAGc < 2:426971/145‑1 (MQ=255) gtAACGGGCGGAATTCCCTACCTGTCTGCTAGCGAAGAAGGCAACTAAGTTATCGCCCAGGCGAACTCCAACTGGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGa < 2:15391/149‑1 (MQ=255) tAACTGACAAATTTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGAc < 1:234585/149‑1 (MQ=255) tGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCTAGCTTGTTTAGCCGCGACCAgg > 1:230983/1‑149 (MQ=255) gAAATGCACTAGCTGTCTGCGACCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGa < 1:38128/149‑1 (MQ=255) cACTACCTGTCTGCTATCGAAGAAGGCAAATACGTTATCGCCCAGGCGAACTCCAACTCGGATGAAGAAGGCCACTTCGTAGAAGTGCTTGTAACTTGGCGTAGCAAAGGCTAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACAt < 2:454832/149‑1 (MQ=255) aCCTGTCTGCTAACGAAGAAGGCAACTACGGTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGAc < 1:241135/149‑1 (MQ=255) cTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGACACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGt > 2:522759/1‑149 (MQ=255) gTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGCTGACGCAGGCCACTTCCTACAAGACCTGGTCACTTGCCTTAACAAAAGCGAACCCAGCTTGATCCGCCGCGACCATTTTGACTACATTCACGTAt > 2:273423/1‑149 (MQ=255) cTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCAcc < 1:151781/149‑1 (MQ=255) cGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCcagc > 1:261232/1‑149 (MQ=255) agaagGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCTCCCAGCAgg < 1:322843/149‑1 (MQ=255) ggCAACTACCGTAACGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAggtggt < 1:150435/149‑1 (MQ=255) cAACTACGTTAGCGCGCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTAt < 2:281807/149‑1 (MQ=255) tACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGGAGGTGGTATCCGt > 1:47353/1‑149 (MQ=255) gccaaCTCCAACTTGGATGAAGAAGGCCACCTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCCAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGAt < 2:451661/146‑1 (MQ=255) cAACTTGCAGGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCTCCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTcc < 2:371383/149‑1 (MQ=255) aCTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCTCCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTg < 1:181631/149‑1 (MQ=255) tGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGGTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGTTGCGTCCCTGATCCCGGTCCTGGAACACg > 1:238263/1‑149 (MQ=255) cACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAAACGCGACCAGGTTGACTACATGGACGTCTCCAACCAGCAGGGCGTATCCGTCGATGCGTCCCTGATCCCGTCCCTGGAACACGATGACGCCaa > 2:484979/1‑149 (MQ=255) tAGAAGACTTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCa < 2:328913/149‑1 (MQ=255) tAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCTCCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGCTGACGCCAACCGTGCa > 1:566985/1‑149 (MQ=255) aCTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACACGGACGTAGCCTCCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGaa < 1:549762/149‑1 (MQ=255) aCTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAACCGCGACCAGGTTGACTACAAGGACGTAACCTCCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGaa < 1:549697/149‑1 (MQ=255) tGCCTTAGCAAAGGCGAAACCAACTTTTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGAACAt < 2:230983/149‑1 (MQ=255) | CGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGAACAT > NC_000913_3_hsa_tpiA/4182995‑4183280 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |