Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,224,239 | A→T | 11.5% | intergenic (+332/+40) | ycgI → / ← minE | pseudogene/cell division topological specificity factor |
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 | 1,224,239 | 0 | A | T | 11.5% | 83.3 / 3.5 | 34 | intergenic (+332/+40) | ycgI/minE | pseudogene/cell division topological specificity factor |
Reads supporting (aligned to +/- strand): ref base A (15/14); new base T (2/2); total (18/16) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.89e-01 |
CTCAACCAGGCATAAACATTTTGTTTTGTGCGTGGGAACAGCCTTAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAAGCTGTACGGTTACCATCTCAGGATCAATTTG > NC_000913_3_hsa_tpiA/1224091‑1224383 | cgcAACCAGGCTTAAACATTTTTGTTTGTGCCTGGGAACAGCCTTAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAgaga < 2:17185/147‑1 (MQ=255) aaCCAGGCATAAACATTTTGTTTTGTGCGTGGGAACAGCCTTAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATaa > 2:512335/1‑149 (MQ=255) gCATAAAGTGTTTGGTGTGGGGGTGGGAACAGCCTAAAGGTGAAGAGGGAGAGGAGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGTCGCTTTACCACAACGTGGATCAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGc < 2:300695/149‑1 (MQ=255) tAAACATTTTGTTTTGTGCGTGGGAACAGCCTTAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCGGAGATAACTCTGCCtt > 2:232033/1‑149 (MQ=255) aagatgttgtgtggtGCGTGGGAAGAGCCTTAAGGTGTAGAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAACCTCAAGGCAGCGTTATCTCTGCCTTGa < 2:352348/143‑1 (MQ=255) aCATTTTGTTTTGTGCGTGGGAACAGCCTTAAGGTGTAAAGGGGGAGGTGGAAATCGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCCGAACTAACTCTGCCTTGaa > 2:288028/1‑149 (MQ=255) ttttgttttgTGCGTGGGAACAGCCTTAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTGGAAGAt > 1:559001/1‑149 (MQ=255) ttttgtGCGTGGGAACAGCCTTAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGCTAAATg > 1:269407/1‑149 (MQ=255) gctggggAACAGCCTTAGGGTGTAAAGGGGGAGGGGGAAAGAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGTATGAGAGGGATGAAAAACTCAAGGCAGCGATAATTCTGCCTTGAAGCTCAATGCGCttt < 2:61778/145‑1 (MQ=255) gggAACAGCCTTAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACa < 1:309850/149‑1 (MQ=255) gAACAGCCTTAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCGGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGc > 1:205805/1‑149 (MQ=255) aaCAGCGGTAAGGTGTAAAGGGGGAGGGGGAAATAGCGTTGAGGGGGATCAGCGAGAATATTCGCCGCTTTACCACAACTGGGATGTGAGGGATGAAACACTCAAGGCAGAGATAACTCGGCCTTGAAGATAAATGCGCTTTTACAGCg < 2:193202/149‑1 (MQ=255) aCAGCCTTAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCgg > 2:198059/1‑149 (MQ=255) cTTAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTa < 1:210304/149‑1 (MQ=255) cTTAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTa > 2:382618/1‑149 (MQ=255) ttAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTAt < 1:272728/149‑1 (MQ=255) gtgtAAAGGGGGAGGTGGAAAGAGCAAGGAGGAGTACCAGCAAGAATTCGCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAg < 1:213466/149‑1 (MQ=255) tATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCCCGTTCAGCTCa > 2:12268/1‑149 (MQ=255) gCAAGAATACTCGCCGCTTTACGACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAAt > 1:280509/1‑149 (MQ=255) aaGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAg > 2:575364/1‑149 (MQ=255) aTACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCAGGCTTATTTCAGCACTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATCGAAat > 2:582259/1‑149 (MQ=255) gccgcTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGcc > 1:642593/1‑149 (MQ=255) ccgcTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGCGCTTATTTCAGCTCATCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCa < 1:581900/149‑1 (MQ=255) acaACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCt > 1:512100/1‑149 (MQ=255) ggTGGTTGACAGGGATGAAAAACGCAAGGCAGACATAACTCTGCCTTGAATATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAATGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAAg < 2:369438/148‑1 (MQ=255) agagGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAGGCTCTACgg > 2:354399/1‑149 (MQ=255) aaggggATGAAAAACTCAGTGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCATCCGGTAGGGTCTCGGGCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAAGCTGTACgg < 2:239731/146‑1 (MQ=255) ttCAAGGCAGAGTTATCTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCCCAAGAATAGAAATATCGCCATCTTTTTGCTCAAGCTGTACGGTTACCATCTCAGGa > 1:584372/2‑149 (MQ=255) cTCAAGGCAGATATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAAGCTGTACGGTTACCATCTCAGGa < 1:202055/149‑1 (MQ=255) tCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAAGCTGTCCGGTTACCATCTCAGGAt > 1:96708/1‑149 (MQ=255) aGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAAGCTGTACGGTTACCATCTCAGGATCaa < 1:408337/149‑1 (MQ=255) ggCAGAGTTATCTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAAGCTGTACGGTTACAATCTCAGGATCAAt > 2:111267/1‑149 (MQ=255) ggCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAAGCTGTACGGTTACCATCTCAGGATCAAt < 2:371155/149‑1 (MQ=255) cAGAGTTAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAAGCTGTACGGTTACCATCTCAGGATCAAttt < 1:281695/149‑1 (MQ=255) cAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCCGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAAGCTGTATTTTTACCCTCTCAGGATCCAttt < 2:570746/149‑1 (MQ=255) agagagAACTATGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAAGCTGTACGGTTACCATCTCAGGATCAATTTg < 2:39977/149‑1 (MQ=255) | CTCAACCAGGCATAAACATTTTGTTTTGTGCGTGGGAACAGCCTTAAGGTGTAAAGGGGGAGGTGGAAATAGCAATGAGGAGTATCAGCAAGAATACTCGCCGCTTTACCACAACGTGGATGAGAGGGATGAAAAACTCAAGGCAGAGATAACTCTGCCTTGAAGATAAATGCGCTTTTACAGCGGGCTTATTTCAGCTCTTCTGCTTCCGGTAAGGTCACGTTCAGCTCAAGAATAGAAATATCGCCATCTTTTTGCTCAAGCTGTACGGTTACCATCTCAGGATCAATTTG > NC_000913_3_hsa_tpiA/1224091‑1224383 |
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: ‑ |