Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 2,939,243 C→T 7.5% A119V (GCG→GTG)  fucU → L‑fucose mutarotase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,939,2430CT 7.5% 148.6 / 3.8 55A119V (GCG→GTG) fucUL‑fucose mutarotase
Reads supporting (aligned to +/- strand):  ref base C (30/20);  new base T (2/2);  total (32/23)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.15e-01

GTGATGATGGCGGCGGTAGAAGGTGACACTCTCGATCCTGAAGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACGCGGGCGGTTATCGAATGATGGGGTGAAAAATATGAAAGCGG  >  NC_000913_3_hsa_tpiA/2939098‑2939377
                                                                                                                                                 |                                                                                                                                      
ggagctgtgGCGGCGGTAGAAGGTGCCGCTCTCGAATCGGAAGTAGAACTAGGTTACCGTAAGGCGCTTTCACTACAAGCCCCGTGTCCTCACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGAt                                                                                                                                     <  2:792034/142‑1 (MQ=255)
 taatgatgGCGGCGGTAGAAGGTGACACCCACGCTCCTGAAGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATc                                                                                                                                    <  1:280397/147‑1 (MQ=255)
      atgGCGGCGGTAGAAGGTGACACTCTCGATCCTGAAGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTAt                                                                                                                               >  1:212537/1‑149 (MQ=255)
      atgGCGGCGGTAGAAGGTGACACTCTCGATCCTGAAGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTAt                                                                                                                               >  1:548617/1‑149 (MQ=255)
       tgGCGGCGGTAGAAGGTGACACTCTCGATCCTGAAGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATc                                                                                                                              >  1:542907/1‑149 (MQ=255)
                   aaGGTGACACTCTCGATCCTGAAGTAGAACGACGTTACCGCAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCAGCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGa                                                                                                                  <  1:511514/149‑1 (MQ=255)
                   aaGGTGACACTCTCGAACTTGAAGTAGAACGACGATACGGTAATGCGCTTTAACTACAAGCCCAGAGTGCTGACATCATCCGCATCAATCGTTTTGAGTATTATGAACGGGCGCAACAAGCCTTCGCGAACGGTGTCACAgacggacgg                                                                                                                  >  2:192358/1‑148 (MQ=255)
                     ggTGACACTCTCGATCCTGAAGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATAACAGGCGAACGAGc                                                                                                                <  2:764021/149‑1 (MQ=255)
                      gTGACACTCTCGATCCTGAAGTAGAACGACGTTACCGTAATGGGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACAGGCGCAAAAAGCCTTTTCGATCGTTATGCCGGCCGAACGATCg                                                                                                               >  2:580846/1‑149 (MQ=255)
                        gACCCTCGCGATCCTGAAGTAGAACGACGTTACCGTAATGCGCTTGCACTACATGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGaa                                                                                                             <  2:61943/149‑1 (MQ=255)
                             tctcGATCCTGAAGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTaag                                                                                                        >  1:635682/1‑147 (MQ=255)
                              cccGATCCGTAAGTAGAACCACGTTACCGTAAGGCGCTTTCACTACAAGCCCCTTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACgg                                                                                                       <  2:137977/147‑1 (MQ=255)
                                     cTGAAGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGTGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATAtt                                                                                                >  1:356882/1‑149 (MQ=255)
                                     cTGAAGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGTGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATAtt                                                                                                >  1:357728/1‑149 (MQ=255)
                                      tGAAGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTc                                                                                               >  1:806742/1‑149 (MQ=255)
                                       gAAGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCt                                                                                              >  1:625662/1‑149 (MQ=255)
                                       gAAGTAGAACGACGTTACCGTAATGCGCTTTCACGACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCt                                                                                              <  1:536252/149‑1 (MQ=255)
                                        aaGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTTTGAACGCGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGAGAATATTCtt                                                                                             >  1:193640/1‑149 (MQ=255)
                                         aGTAGAACGACGTTACCGGAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCttt                                                                                            <  2:423641/149‑1 (MQ=255)
                                          gTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACAGCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGAGAACGAGGGAAGTACGGGAATATTCtttt                                                                                           >  2:420976/1‑149 (MQ=255)
                                             gAACGAGGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCGTCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGACTTTGCGGTCGTTATCACAGGCGAGCGAGCGAGGTACGGGGATATTCTTTTaca                                                                                        >  2:10522/1‑147 (MQ=255)
                                                    gTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTCTGAACGGGCGCAAAAAGCCCTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAggt                                                                                 <  2:634799/149‑2 (MQ=255)
                                                    gTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGTGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAggg                                                                                 <  2:357728/149‑1 (MQ=255)
                                                    gTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGTGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAggg                                                                                 <  2:356882/149‑1 (MQ=255)
                                                    gTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAggg                                                                                 <  1:752904/149‑1 (MQ=255)
                                                    gTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGGTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAggg                                                                                 <  1:88110/149‑1 (MQ=255)
                                                     ttACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGACCGGGCGCAAAAGGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATTTCCTTTCAAAAAAAggga                                                                                >  2:532360/1‑148 (MQ=255)
                                                      tACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCTTTTTGCGCTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGt                                                                               <  1:750239/149‑1 (MQ=255)
                                                         cGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTCTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAACAGGGGTAac                                                                            >  2:26142/1‑149 (MQ=255)
                                                             aTGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGAAACACCg                                                                        >  1:617481/1‑149 (MQ=255)
                                                                  cTTTCACTACAAGCGCCGTGTCCTTACATCATCCGCATCAATCGTGTTGGTTTTTATGAACGGGCGCAAAAAGCCTTTGGGATCTTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACAGCGTAAtc                                                                   <  2:426178/149‑1 (MQ=255)
                                                                    ttCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAAtctc                                                                 <  1:677842/149‑1 (MQ=255)
                                                                               ccccGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACg                                                      >  1:361040/1‑149 (MQ=255)
                                                                                  cGTGTCCTGACAAAACCAGCATCAATCGTTTGCCGTTCTATGAACGGGCGCAAAAAGCCCTTGCGACCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTCTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGccc                                                   <  1:594549/149‑1 (MQ=255)
                                                                                        cTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTGAGCCCGCAtaa                                             >  1:108598/1‑147 (MQ=255)
                                                                                        cTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGa                                             >  2:318103/1‑149 (MQ=255)
                                                                                        cTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGACGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTCAAAAAAGGGGTAACACCGTAATCTCATACCGGTGCGCCCGCATGa                                             >  2:781923/1‑149 (MQ=255)
                                                                                             atcatcCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACgcgg                                        >  1:393841/1‑149 (MQ=255)
                                                                                                atcCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACgcgggca                                     >  1:347035/1‑148 (MQ=255)
                                                                                                 tcCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACgcgggcgg                                    >  1:183962/1‑149 (MQ=255)
                                                                                                 tcCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACgcgggcgg                                    >  1:99815/1‑149 (MQ=255)
                                                                                                 tcCGCAGCAATCGGTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACgcgggcgg                                    <  1:219555/149‑1 (MQ=255)
                                                                                                      attaaTCCTATTGCGCTTTATCAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATGCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATCACGCGGGCGGTTATc                               <  2:688074/146‑1 (MQ=255)
                                                                                                       tCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACGCGGGCGGTTATCg                              >  1:785528/1‑149 (MQ=255)
                                                                                                          aTCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACGCGGGCGGTTATCGAat                           >  2:165085/1‑149 (MQ=255)
                                                                                                           tCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACGCGGGCGGTTATCGCatg                          >  1:68035/1‑149 (MQ=255)
                                                                                                             gTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCCCAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGGAATCTCATACCGGTACGCCCGCATGACGCGGGCGGTTATCGAatgat                        <  1:460829/149‑1 (MQ=255)
                                                                                                             gTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTAGGGGAATATTCTTTTAAAAAAAGGGGTAACACCGGAATCGCATACTGGTAGGCCCGCATGATTCGGGCTGGTATCGAaggaa                        >  1:593816/1‑148 (MQ=255)
                                                                                                                    gTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAggg                                                                                 >  2:188695/1‑85 (MQ=255)
                                                                                                                    gTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAggg                                                                                 <  1:188695/85‑1 (MQ=255)
                                                                                                                          tGAACGAGCGCAAAAAGTCTTTGCGATAGGTATCACAGGCGAACGAGACAAGTACGTGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACGCGGGCGGTTATCGAATGATGGGGTGAAAAata           <  2:398500/149‑1 (MQ=255)
                                                                                                                            aaCGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACGCGGGCGGTTATCGAATGATGGGGTGAAAAATCTg         >  2:323403/1‑149 (MQ=255)
                                                                                                                                 gcgcAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACGCGGGCGGTTATCGAATGATGGGGTGAAAAATATGAAAGc    <  1:840721/149‑1 (MQ=255)
                                                                                                                                   gcAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACGCGGGCGGTTATCGAATGATGGGGTGAAAAATATGAAAGCgg  >  1:206381/1‑149 (MQ=255)
                                                                                                                                   gcAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACGCGGGCGGTTATCGAATGATGGGGTGAAAAATATGAAAGCgg  >  1:692052/1‑149 (MQ=255)
                                                                                                                                                 |                                                                                                                                      
GTGATGATGGCGGCGGTAGAAGGTGACACTCTCGATCCTGAAGTAGAACGACGTTACCGTAATGCGCTTTCACTACAAGCCCCGTGTCCTGACATCATCCGCATCAATCGTTTTGCGTTTTATGAACGGGCGCAAAAAGCCTTTGCGATCGTTATCACAGGCGAACGAGCGAAGTACGGGAATATTCTTTTAAAAAAAGGGGTAACACCGTAATCTCATACCGGTACGCCCGCATGACGCGGGCGGTTATCGAATGATGGGGTGAAAAATATGAAAGCGG  >  NC_000913_3_hsa_tpiA/2939098‑2939377

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑