Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 550,955 | C→T | 9.0% | L173F (CTC→TTC) | ybcF → | putative carbonate kinase |
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 | 550,955 | 0 | C | T | 9.0% | 108.7 / 4.1 | 48 | L173F (CTC→TTC) | ybcF | putative carbonate kinase |
Reads supporting (aligned to +/- strand): ref base C (17/25); new base T (2/2); total (19/29) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.89e-02 |
GTCCGGTTTATCAGCCAGAAGAACAAGAGGCACTGGAAGCGGCTTACGGCTGGCAGATGAAACGTGATGGTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATAAAGATCTCGCCGCTGCGTTGCTCGCCGAGCAGATTAATGCAGATGGACTGGTGATCCTCAC > NC_000913_3_hsa_tpiA/550812‑551103 | gtgcGGCTTAACAGCCAGAAGAACAAGACGCACTGGAAGCGGCTTACGGCTGGCAGATGAAACGTGAGGGTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCaaa < 2:227282/146‑1 (MQ=255) cGGTTGATCAGGGAGAAGAACAAGAGGCACGGGAAGCGGCTTACGGCTGGCTGATGAAACGTGATGGTAAATATGTGCGCCGGGTGGTGGGGTTTCCGCAACCGCGTAAAATTCTCGTCAGCGAAGCCATCGAGTTGTTGCTCAAagag < 2:625255/149‑1 (MQ=255) agaagaACAAGAGGCACTGGAAGCGGCTTCCGGCTGGCAGATGAAACGCGATGGTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACCGCGAAGCCATCGAGATGTTGCTCAAAGAGCGGCATgtggtgg > 2:288382/1‑148 (MQ=255) agaagaACAAGAGGAACTGGAAGCGGCTGACGGCTGGCAGATGAAACGTGATGGTAAAGATTAGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAACAAAGCCATCGAGTCGTTGCTCAAAGACGGGCAtgagcagt > 2:90027/1‑143 (MQ=255) gaagaaCAAGAGGCACTGGAAGCGGCTTACGGCTGGCAGATGAAACGTGATGGCAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGAt > 1:433673/1‑149 (MQ=255) gaaTAAGAGGCACAGGAGGCGGCTTACGGCTGGCAGGTTAAGCGTGATGGTAAATATTTGCGCCGGGTGGTGGCGTCTACGAAACCGCGTAAAATTCTCGACAGCGAAGCCATCGACTTGTTGCTCAAAGAGGGGCATGTGGTGATTTg < 2:544483/149‑1 (MQ=255) caccacgagGCACTCGAAGCGGGTTACGGCTGGCAGATGAAACGTGATGGTAAATATTTGCGCCGGGTGGTGGCGGCCCCGCGACCGCGTAAAATTCCCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTg < 2:392043/143‑1 (MQ=255) aaCAAGAGGCACTGGAAGCGGCTTACGGCTGGCAGATGAAACGTGATGGTAAATATTTGCGCCGGGGGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCAACGAGCCGTTGCTCCAAGAGGGGCATCTGGTGACTTGc > 2:345358/1‑149 (MQ=255) aCAAGAGGCGCTGGAAGCGGCTTACGGCTGGCAGATGAAACGTGATGGTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGGGATTTGCa > 2:491415/1‑149 (MQ=255) gagGCACTGGAAGCGGCTTACGGCTGGCAGATGAAACGTGATGGTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTgg < 2:332378/149‑1 (MQ=255) cTTACGGCTGGCAGATGAAACGTGATGGTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGAGTCAAATTGACGATAGGTAAGCCGTCTAGGTGTTGCTCAAAGAGGGGCAGGTGGTAATTTGCAGTGGCGGCGGCGGGTTGCCt > 2:567228/1‑149 (MQ=255) cGGTTGTCAGATGAACCGTGATCGTAAATATTGGCGCGAGGTTGTGGCGTCCCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGtga < 1:637410/149‑1 (MQ=255) ttgCAGGTGAAACCTGATGGGATATCTTTGCGCCGGGTGGTGGCGTCTCCGGCACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTTAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGtgacgga < 2:33540/147‑1 (MQ=255) tGGCAGATGAAACGTGATGGTAAAAAATCGCCCCGCGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGtgacgga < 1:284840/149‑1 (MQ=255) gaGATGAAACGGGATGGTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGtgacggatga < 2:425372/148‑1 (MQ=255) gATGAAACGTGATGGTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGtgacggatgacg < 2:605943/149‑1 (MQ=255) aTGAAACGTGATGGTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTAGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGtgacggatgaggg > 2:460543/1‑149 (MQ=255) aaCGTGATGGTAAATAATTGCGCCGGGTCGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCa < 1:80554/149‑1 (MQ=255) aaCGGGATGGTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGGCAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGCCGGCGGCGGTGTGCCTGTGACGGCTGACgcagca > 2:2438/1‑149 (MQ=255) aCGTGATGGTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAg > 2:470900/1‑149 (MQ=255) aCGTGATGGTAAATATTTGCGCCGGATGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGGGTGCCTGTGCCGGATGCAGGCGCAg > 2:607193/1‑149 (MQ=255) aCGTGATGGGAAAGATTGGCGGCGGGTGGGGGCCGCTACGCAACCGCTTAAAATTCTCGACAGCGAAGCCATCGAGTTGTCGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAg < 2:137733/149‑1 (MQ=255) gTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGTTCAAaga > 1:244104/1‑82 (MQ=255) gTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGTTCAAaga < 2:244104/82‑1 (MQ=255) gTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGTTCAAaga < 2:241658/82‑1 (MQ=255) gTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGTTCAAaga > 1:241658/1‑82 (MQ=255) ggggggTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATaaa < 2:367635/149‑1 (MQ=255) ggggggTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATaaa < 1:418939/149‑1 (MQ=255) gggTGGTGGCGTCTCCGCAACCGCGTAACATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATaaa < 1:75610/149‑1 (MQ=255) gggTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATaaa < 1:643227/149‑1 (MQ=255) gggTGGTGGCGGCCCCGGAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCCCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATaaa < 2:494989/149‑1 (MQ=255) tgggtggtGTCTCCGCAACCGCGTAAAACTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGCGATTTGCAGTGGCGGCGGCGGTGGGCCTGTGACGGATGATGGAGCAGGGAGTGAAGCAGTGATTGATAAAGa < 2:170075/147‑1 (MQ=255) tggTGTCTCCGGAACCGTGGAGAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGTGTCATGTGGTGATGTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATAAAGAtctc < 2:52379/149‑1 (MQ=255) tggGGTCTCCGGAACGGCGTAAAATTCTCGACTGCTAAGCATTCGGGTTGTTGGTAAAAGTGGGGCATGTGGTGAGTGGCAGTGGCGGCGGCGGTGTGTCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATAAAGAtctc < 2:71096/149‑1 (MQ=255) tcCGCAACCGCGTAAAATTCTCGACAGCGTAGCCATCGAGTTGTAGCTCAGAGAAGGGCATGAGGTGATTAGAAGTGGCGGCGGCGATGTGCCTGTGACGGATCACGGAGCAAGGAGTGAAGCAGCGATTGATAAAGAGCTcgctgcgg > 1:556698/1‑147 (MQ=255) tcCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGGGTGGAGCAGTGATTGATAAAGATCTCGCCGCTg > 2:78850/1‑149 (MQ=255) ccGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATAAAGATCTCGCCGCTGc > 1:361496/1‑149 (MQ=255) gTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGCGTGAAGCAGTGATTGATAAAGATCTCGCCGCTGCGTTGCtgccc > 1:274021/1‑145 (MQ=255) gACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATAAAGATCTCGCCGCTGCGTTCCTCGCCGCGCAGATTag > 2:629335/1‑148 (MQ=255) caCAGCGAAGCCATCGAGTTTTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGAGAAAGATCTCGCCGCTGCGTTGCTCGCCGAGCAGATTaa < 1:60347/148‑1 (MQ=255) aGCGAAGCCATCGAGGGGTGTCTCAATGTGGGTCATGTGCGGATTAGCAGTGGCGGCGGCTGTGTCCCTGTGACGGATAACGGAGCAGGGAGTGTAGGAACGATTGATAAAGAGCTCGCCGTTGCGTTGCTCGCCGAGCAGATCAATGc < 2:311626/149‑1 (MQ=255) gCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATAAAGATCTCGCCGCTGCGTTGCTCGCCGAGCAGATTAATGCa < 1:31093/149‑1 (MQ=255) cGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGGGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGAAGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATAAAGATCTCGCGTCTGCGTTGCCCGCAGAGCAGATTAAAGCAg > 2:41314/1‑149 (MQ=255) gagggcgtCGAGGTGTTGCTCAGAGGTGGGGATGTGTTGATTTGCAGTGGCGGCAGCGGTGGGGCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGAGTGATAAAGATCTCGCCTCTGCGTTGCTCGCCGAGCAGATTAATGCCGa < 2:97537/142‑1 (MQ=255) aGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATAAAGATCTCGCCGCTGCGTTGCTCGCCGAGCAGATTAATGCCGagg > 1:394354/1‑147 (MQ=255) cagacggttgttTCTGAAAGGAGGGTATGTTGGGATTTGCAGTGGCTGCGGCCGTGTGCCGGTGACGAATGACGGAGCGGCGAGTCACGAACTGGGTGATAAAGCTCGCGCCTCTGCGTTGCTCGCCGAGCAGATTAATGCAGATGGAc < 2:239589/143‑1 (MQ=255) tCGAGTGGTTGCTGAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGGGCCTGTGACGGATGACGGAGCAGGGAGCGAAGCAGTGATTGATAAAGATCTCGCCGCTGCGTTGCTCGCCGAGCAGATTAATGCAGATGGACTg < 2:172904/149‑1 (MQ=255) tgttgGTCAAAGGGGGGGATGTGGGGATTTGCTGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGGGTGTAGCAGTGATTGATAAAGATCTCGCCGCTGCGTTGCTCGCCGAGCAGATTAATGCAGATGGACTGGTGATc < 2:115366/149‑1 (MQ=255) cTCAAAGAGGGGGATGTTGGGAGTTGCAGTGGCGGCGGGGGGGTGGCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATAAAGATCTCGCCGCTGCGTTGCTCGCCGAGCAGATTAATGCAGATGGACTGGTCATCCTCat < 2:8610/149‑2 (MQ=255) cTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGCATGCCTGTGACGGATGACGTATCTGGGAGTGAAGCAGTGATTGATAAAGATCTCGCCGCTGCGTTGCTCGACGAGCAGATTAAGGAAGATGGACGGGGGATCCGCAc > 1:589503/1‑149 (MQ=255) | GTCCGGTTTATCAGCCAGAAGAACAAGAGGCACTGGAAGCGGCTTACGGCTGGCAGATGAAACGTGATGGTAAATATTTGCGCCGGGTGGTGGCGTCTCCGCAACCGCGTAAAATTCTCGACAGCGAAGCCATCGAGTTGTTGCTCAAAGAGGGGCATGTGGTGATTTGCAGTGGCGGCGGCGGTGTGCCTGTGACGGATGACGGAGCAGGGAGTGAAGCAGTGATTGATAAAGATCTCGCCGCTGCGTTGCTCGCCGAGCAGATTAATGCAGATGGACTGGTGATCCTCAC > NC_000913_3_hsa_tpiA/550812‑551103 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |