Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_pgi 1,882,636 C→T 8.7% A242V (GCG→GTG)  dmlA → D‑malate oxidase, NAD‑dependent; putative tartrate dehydrogenase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_pgi1,882,6360CT 8.7% 110.2 / 3.6 48A242V (GCG→GTG) dmlAD‑malate oxidase, NAD‑dependent; putative tartrate dehydrogenase
Reads supporting (aligned to +/- strand):  ref base C (25/18);  new base T (2/2);  total (28/20)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.67e-01

GTTTAGCCATCAGCATGCCGTACTGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTCCCGTCGC‑TCTTCGAGCCTGTCCACGGTTCCGCGCCGGATATCTACG  >  NC_000913_3_hsa_pgi/1882492‑1882782
                                                                                                                                                 |                                                                                                                                                   
gTTTAGCCATTCGCTTGTCGTTCTGGTATGAGCTAGTGGTAGCGATGGGCGAAAATTACCCGGAGACCCG‑CTGGGACAAACAGCATATTGATATTCTCTGCGCTCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTcc                                                                                                                                                 <  1:48387/149‑1 (MQ=255)
gTTTAGCCATCAGCATGCCGTACTGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTcc                                                                                                                                                 >  1:512677/1‑149 (MQ=255)
    aGCCATAAGAATGCCGTACTGGGATGAGTGATTGGGAGTAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCTATGTGGTGGTGGCGTCCAAtt                                                                                                                                             <  2:117975/149‑1 (MQ=255)
        agcAGCATGCCGTACGGGGATGAGCGGGTGGAAGCAATTGCCGAGAATTACGCGCAGATCCG‑CTGGGACAAGCAGCAGATTGATATTCTCTGCGCGCGTTTTGTGATGCATCCGGAACGATTCGATGTGGTGGTGGCCTCCAAtttgtt                                                                                                                                         >  2:636811/3‑149 (MQ=255)
         tCAGCATACCGTACTGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑ATGGGAAAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGCTTCGAAGTGGTGGTGGCGTCCAAtttgttt                                                                                                                                        >  1:221252/1‑149 (MQ=255)
           aGCATGCCGTACTGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTgg                                                                                                                                      >  1:469006/1‑149 (MQ=255)
               tGCCGTACTGGGATGAGCGAGTGGAAGCATTCTCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGat                                                                                                                                  >  2:971771/1‑149 (MQ=255)
               tGCCGTACTGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGat                                                                                                                                  >  1:696593/1‑149 (MQ=255)
                   gTACTGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATcc                                                                                                                              <  1:476793/149‑1 (MQ=255)
                    tACTGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCCGCCGGAACGATTCGATGTGGTGGTGGCGTCCACTTTGTTTGGCggactcct                                                                                                                             >  2:442346/1‑142 (MQ=255)
                     aCTGGGAAGAGCGAGTTGAAGCAATGGCCGAGAATCACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCtt                                                                                                                            <  1:243370/149‑1 (MQ=255)
                       tGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGTGTCCAAtttgt                                                                                                                                          <  1:680177/133‑1 (MQ=255)
                       tGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGTGTCCAAtttgt                                                                                                                                          >  2:680177/1‑133 (MQ=255)
                       tGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGTGTCCAAtttgt                                                                                                                                          >  2:680946/1‑133 (MQ=255)
                       tGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGTGTCCAAtttgt                                                                                                                                          <  1:680946/133‑1 (MQ=255)
                       tGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTc                                                                                                                          <  2:554149/149‑1 (MQ=255)
                       tGGGATGAGCGAGCGGAAGCAATGGCGGAGAATTACCCGGAGACCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTc                                                                                                                          <  2:87851/149‑1 (MQ=255)
                         ggATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCg                                                                                                                        >  1:276540/1‑149 (MQ=255)
                               gCGAGTTGAAGCAATGGGCGAGACTGTCGCGG‑CAGCCGAGTGGGACAAGCAGCATGGTGATAGTCCTTGGGTGGGTTGTGTGATTCAGTCGGAGCGATTCGATGTGGTGGTGGCGGCCAATTTGTTTGGCGATATCCTTTCCGATCTTg                                                                                                                  <  2:488256/149‑1 (MQ=255)
                               gCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCCGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCAGGAACGATTCGATGTGGTGGTGGGGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTg                                                                                                                  >  2:561731/1‑149 (MQ=255)
                                cGAGAGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGAAAAGCAGCATATTGATATTGTCTGCGCGCGTTTTGTGATGCAGCCGGAACGTTTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCTATATCCTTTTCGATCTTgg                                                                                                                 >  2:14488/1‑149 (MQ=255)
                                   gTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGccc                                                                                                              >  1:518150/1‑149 (MQ=255)
                                        aGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCTGCCt                                                                                                         >  1:572383/1‑149 (MQ=255)
                                           aaTGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCa                                                                                                      >  2:572131/1‑149 (MQ=255)
                                            aTGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTAATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCAc                                                                                                     >  1:793896/1‑149 (MQ=255)
                                                        tACCCGGAGATCCG‑CTTGGACAAGCAGCATATTGATATTTTCTTCGCTCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTgg                                                                                         <  1:465911/149‑1 (MQ=255)
                                                            cGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCAtt                                                                                     <  1:572131/149‑1 (MQ=255)
                                                              gagaTCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATTCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGc                                                                                   <  1:442346/149‑1 (MQ=255)
                                                                                gcagcaTATTGATATTCTCTGCGCGCGGTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCGATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGACTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGa                                                                  >  1:141487/1‑149 (MQ=255)
                                                                                    caTATTGATATTTTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATcc                                                              <  1:207445/149‑1 (MQ=255)
                                                                                     atatTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATACg                                                             >  1:325246/1‑149 (MQ=255)
                                                                                        ttGTTATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGaa                                                          <  2:932891/149‑1 (MQ=255)
                                                                                        ttGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGaa                                                          <  2:201012/149‑1 (MQ=255)
                                                                                              ttCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGAACGCACt                                                    >  2:888703/1‑149 (MQ=255)
                                                                                                 gttGCGCCCTTTTTTTGATGCAGCTGGAACGTTTCGTTTTTGTGGTGGCTTCCAATTTGTTTGGTGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTc                                                 <  1:899147/147‑1 (MQ=255)
                                                                                                                   tGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTAGCATTGCCCCATCCGCCACCCTGAATCCGGAACGCACTCTCCCGTCGC‑TCTTCGATccg                              >  2:84185/1‑148 (MQ=255)
                                                                                                                      aGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTCCCGTCGC‑TCTTCGAGCCTGTc                           <  2:276540/149‑1 (MQ=255)
                                                                                                                         cGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTCCCGTCGC‑TCTTCGAGCCTGTCCAc                        <  2:781421/149‑1 (MQ=255)
                                                                                                                          ggAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCCCCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTCCCGTCGC‑TCGTCGGCGCTGTCCACg                       >  2:180534/1‑149 (MQ=255)
                                                                                                                           gAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGTATTGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTCCCGTCGC‑TCTTCGAGCCTGTCCACgg                      >  1:15226/1‑149 (MQ=255)
                                                                                                                           gAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATAGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTCCCGTCGC‑TCTTCGAGCCTGTCCACgg                      >  1:864231/1‑149 (MQ=255)
                                                                                                                                aTTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTCCCGTCGC‑GCTTCGAGCCTGTCCACGGTTCcg                 >  2:286184/1‑149 (MQ=255)
                                                                                                                                 ttCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTCCCGTCGC‑TCTTCGAGCCTGTCCACGGTTCcgc                >  2:902449/1‑149 (MQ=255)
                                                                                                                                 ttCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCAGAACGCACTTTCCCGTCGC‑CCTTCGAGCCTGTCCACGGTTCcgc                >  1:769576/1‑149 (MQ=255)
                                                                                                                                     aTGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCATCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTCCCGTCGC‑TCTTCGAGCCTGTCCACGGTTCCGCGCCg            >  1:141752/1‑149 (MQ=255)
                                                                                                                                      tgtgGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGTCCGGCCTGCCGCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATTCGGAACACCATTTCCCG‑CGCAACTTCGAGCCTGTCCACAGTTCCGCGCCgg           >  2:247261/1‑149 (MQ=255)
                                                                                                                                              tggCGGCCCATTTGTTTGGCGATATTCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTCCCGTCGC‑TCTTCGAGCCTGTCCACGGTTCCGCGCCGGATATCTAc   <  1:770584/149‑1 (MQ=255)
                                                                                                                                               ggCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTCCCGTCGC‑TCTTCGAGCCTGTCCACGGTTCCGCGCCGGATATCTACg  <  1:902449/149‑1 (MQ=255)
                                                                                                                                                 |                                                                                                                                                   
GTTTAGCCATCAGCATGCCGTACTGGGATGAGCGAGTGGAAGCAATGGCCGAGAATTACCCGGAGATCCG‑CTGGGACAAGCAGCATATTGATATTCTCTGCGCGCGTTTTGTGATGCAGCCGGAACGATTCGATGTGGTGGTGGCGTCCAATTTGTTTGGCGATATCCTTTCCGATCTTGGCCCGGCCTGCACCGGCACCATTGGCATTGCCCCATCCGCCAACCTGAATCCGGAACGCACTTTCCCGTCGC‑TCTTCGAGCCTGTCCACGGTTCCGCGCCGGATATCTACG  >  NC_000913_3_hsa_pgi/1882492‑1882782

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑