Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 195,316 | G→A | 9.0% | T138T (ACG→ACA) | ispU → | undecaprenyl pyrophosphate synthase |
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 | 195,316 | 0 | G | A | 9.0% | 114.4 / 3.7 | 54 | T138T (ACG→ACA) | ispU | undecaprenyl pyrophosphate synthase |
Reads supporting (aligned to +/- strand): ref base G (21/25); new base A (3/2); total (26/28) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 6.56e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.45e-01 |
TTGTGTGGGCGCTCGATAGCGAAGTAAAAAGTCTGCACCGACATAACGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAACTGGCCC > NC_000913_3_hsa_tpiA/195168‑195464 | tggtgtgGGTGCTGGATAGCGAAGGAAAAAGTCTGCCCCGACATAACGTGCGTCTGCGTATTATTGGCGATACCAGGCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACg < 2:441279/147‑1 (MQ=255) gggAGCTCGATAGGGAAGTAAAGAGGGTGCACCGACATAACGTGCGTCGTCTTATTATTGGCGATACCAGTCGCTTTAACTCTTGTTTGCAAGAACGTATTCGTAAATCTGAATCGCTAACAGCCGGGAATACCGGTCTGACGCTGAat < 2:170948/149‑1 (MQ=255) tCGATAGCGAAGTAAAAAGTCTGCACCGACATAACGTGCGTCTGCGTATTATTGGAGATACCAGTCGCTTTAACTCGCGTTTGCATGAACGTATTCGTAAGTCTGAAGCGCTAGAAGCCGGGAATACCGGCCTGACGCGGAATACTgcg > 2:211703/1‑149 (MQ=255) gTAAAAAGCCTGCACCGAAATAACGTGCGTCTGGGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACgg < 2:213773/149‑1 (MQ=255) aaaaGTCTGCACCGACATAACGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACtcggggtg > 2:571940/1‑142 (MQ=255) aaGTCTGCACCGACATAACGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGAc > 1:554478/1‑149 (MQ=255) aaGTCTGCACCGACATAACGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTAGTAAATCTGAAGCGCTAACAACCGGGAATACCGGTACAACGCTGAATATTGCGGCGAACTCCGGTGGAc > 2:104699/1‑149 (MQ=255) tGCACCGTCATAACTGGCGTCTGCGTATTATTGGGGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTgg < 1:590618/149‑1 (MQ=255) gACATAACGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGCCGTTGGGAtata > 1:513502/1‑149 (MQ=255) aTACCGTGCGTCTGCGTATTATTAGCGATACCAGTCGCTTTAACTCGCGTTTGCAATAACGTCTTAGTATATCTGAAGCGCTAACAGAGGGGATTACCGGTCTGACGCTTAATTTTGCGGCCAACAATGGTGTAGGTTGGGagtgagtc > 2:331397/1‑142 (MQ=255) aaCGTGCGTCTGCGTATTATTGGGTATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCa < 2:659779/149‑1 (MQ=255) aaCGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCa > 1:685289/1‑149 (MQ=255) gTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGCTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAggc > 2:105013/1‑147 (MQ=255) cTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAg < 1:485179/149‑1 (MQ=255) attattGCCGATACCAGTCGCTTTAACACGCGTTTGCAAGAACGTATTCGTAACTCTGAAGAGCTAACAGCCGGGAATACCGGTCTGACGCTGAACATTGCGGCGAACTACGGTCGACGCTGGGCTATTGTCCAGGGAGTCAGGCGACt > 2:560330/1‑149 (MQ=255) ttGGCGATACCAGTCGCTGTAACTCGCGTTTGCAAGAACGTATTCGTAAGTCTGAAGCGCTAACAGCCGGGAATACCGGTCTCACGCTGAATATTGCGGCGAGCTACGGGGGACGGTGGGAGATAGTCCGGGGGGTCAGGCAAcggcga > 2:434070/1‑144 (MQ=255) gCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAATTACGGTGGACGTTGGGAGATAGTCTAGGGAGTCAGGCGACTggataaa > 1:515405/1‑144 (MQ=255) cGACACGAGGCGCTTTAACGCGGCTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGGCTGGAATACCGGTCTGACGGTGAATATTTCGGCGAACTACTGTGGACGTTTGGATATAGTCCAGGGAGTCAGGCAACTGGCTGaaa < 2:501768/149‑1 (MQ=255) gATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGTGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGaaaa < 2:37484/149‑1 (MQ=255) aCCAGTCGCTTTAACCCGCGTTTGCCAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGt < 1:675803/149‑1 (MQ=255) ccAGTCGCTTTAACCCGCGTTTGCATAAACGTATTCGTAAAGCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGTTGAATATTGCGGCGAACGACGGGGGACGTTGGGATAGAGTACAGGGAGTCAGGCAACTGGCTGAAAAGGTg < 2:560745/149‑1 (MQ=255) aggcggtttAAGTGGCGTTTGCAAGAACGTATGCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTgca < 2:131678/143‑1 (MQ=255) tCGCTTTAACTCGCGTTTGCAAGAACGTATTCGGAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTAAGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTgcagc < 1:306684/149‑1 (MQ=255) cTTTAGCGCGTGTTTGCAAGAACGTATTCGGAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGTACTACGGTGGACGGTGTGATATAGTCCAGGGAGTCAGGCAACTGGTTGAAAAGGTGCAGCAAg < 2:76996/149‑1 (MQ=255) cTTTAACTCGCGTTTGCCAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAg < 1:580782/149‑1 (MQ=255) aCTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACACTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAAc > 1:651767/1‑149 (MQ=255) aCTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACACTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAAc > 1:653072/1‑149 (MQ=255) tCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGCATATAGTCCAGGGAGTCAGGCAACTGGCCGACAAGGTGCAGCAAGGAAACCt > 2:87773/1‑149 (MQ=255) tCGCGTGTGCAAGAAAGTATTACTAAATCTGAAGCGCTAGCAGCAGGGAATACCGGTCTGACGGTGAATATTGCGTCGAACTACGTTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAAACt < 2:656901/149‑1 (MQ=255) tttGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTTTGACGCTGAATATTGCGGCGAACTGCGGTGGACGTTGGGATATAGTCCAGGGGGTCAGGCAACTGGCTGAAAGGTGGCAGCAAGGAAACCTGCAAc > 2:44754/1‑149 (MQ=255) aaGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACcagat > 1:459994/1‑149 (MQ=255) aGAAAGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACACTGAATATTGAGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGGCAGGCAACTGGATGAAAAGGGGCAGCACAGAAACCTGCAAAcagatc > 2:153688/1‑149 (MQ=255) gAACGTATTCGTAAATGTGAGGCGCTAACAGCCGGGAATACCGGGCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCGGGGAGTCAGTCAACTGGCTGCAAAGGTGTGGCAAGGACACCTGCAACcagagca > 2:179389/1‑149 (MQ=255) gAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTTCGGTGGACGTTGGGATATACTCCAGGGAGTCAGGCAAGTGGCTGAAACAGTCCGGACACGAAAGCTGCAAAcagagca > 2:237964/1‑149 (MQ=255) tATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACCCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATCTAGTCCAGGGAGCCAGGCAACTGGCTGAAAAGGTGCACCAAGGAAACCTGCAACCACATCagatag > 2:237719/1‑149 (MQ=255) aTTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCagataga < 1:660267/149‑1 (MQ=255) aaTCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTACGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGGCAGGCAACTGGCTGAAAAGATGCAGCAAGGGAACCCGCAACCAGATGCGATAGATGAagag > 2:215611/1‑149 (MQ=255) agcTGAAGCCCTAACAGCCGGGAATACCGGACAGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGGCAGGCAACTGGCTGAAAATGTGCAGCAAGGAAACCCGCAACCAGATCAGATAGATGAAgaga < 1:4016/147‑1 (MQ=255) aTCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAgaga > 1:455342/1‑149 (MQ=255) tGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGGTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACAAGATCAGGTAGATGAAGCGATga > 1:268962/1‑148 (MQ=255) tGAAGCGCTAACAGCCGGGAATACAGGACAGTCTCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGc > 1:336675/1‑149 (MQ=255) cgcTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCCACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGCTGAAGAGATGCTAAAc < 1:600925/149‑1 (MQ=255) cTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGAGATATAGTCCAGGGAGTCAGGCAATTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATTAGATAGATGAAGAGCTGCTAAACCa > 2:355153/1‑149 (MQ=255) cTAACAGCCGGGAATACCGGTCTGACACTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCa < 2:651767/149‑1 (MQ=255) cTAACAGCCGGGAATACCGGTCTGACACTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCa < 2:653072/149‑1 (MQ=255) tAACAGCGGGGAATAACGGTCGGACGTTGAATCTTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAg < 2:295234/149‑1 (MQ=255) aaCAGCGCGGAACGCCGGGCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATGGTCCAGGGAGCCAGGTAGCTGGCTGAAAGGCTGCAGCAAGGAAACCGGCAACCAGATCAGATAGATGAAGTTAGGCTAAACCAGc < 2:463830/149‑1 (MQ=255) aaCACCCGAGAATACCGGTCTTACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACAGTGCGAAAACGTGAACTGTAGAGGGTTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGc < 1:161441/149‑1 (MQ=255) cAGCCGGGAAGACCGGTCTGACTCTGAAGATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAATCCAGCAt < 2:331050/149‑1 (MQ=255) aagaCCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTAt < 2:576911/146‑1 (MQ=255) aCCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGACACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCa > 2:499639/1‑149 (MQ=255) tCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAAc < 1:651710/149‑1 (MQ=255) ctcaCGCTTAACATGGCGGTCAACTACGTTGGACGTTGGGATATAGTCCAGGGAGCCAGGCAACTGGCTGAAAAGGGGGAGCAAGGAACCCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAACt < 2:247097/146‑1 (MQ=255) aCGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAACTGGc < 1:355576/149‑1 (MQ=255) aCGCTGAATATCGGGGTGAACTACGGTGGACGTTGGGATAAAGTCCAGGGAGTGAGGCAGCGGGGGGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAACTGGc < 1:216081/149‑1 (MQ=255) gCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAACTGGccc < 1:589928/149‑1 (MQ=255) | TTGTGTGGGCGCTCGATAGCGAAGTAAAAAGTCTGCACCGACATAACGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAACTGGCCC > NC_000913_3_hsa_tpiA/195168‑195464 |
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: ‑ |