Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 264,098 G→T L50L (CTC→CTA ykfH ← uncharacterized protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA264,0980GT97.8% 122.6 / NA 45L50L (CTC→CTAykfHuncharacterized protein
Reads supporting (aligned to +/- strand):  ref base G (0/1);  new base T (24/20);  total (24/21)
Fisher's exact test for biased strand distribution p-value = 4.67e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.75e-01

CGGGCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAATTTTCA  >  NC_000913_3_hsa_tpiA/263952‑264246
                                                                                                                                                  |                                                                                                                                                    
cGGTCTCCCAGGCGCAGGGTCATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAg                                                                                                                                                    <  2:390207/149‑1 (MQ=255)
  ggCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGa                                                                                                                                                  <  1:711057/149‑1 (MQ=255)
       ccAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCg                                                                                                                                             >  1:614522/1‑149 (MQ=255)
        cAGGCGGAGTGTAGTCTGCCGCTGCCGGCCCCGTGTCGGGTTGCTTATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGGGGCGTTCGGCGTATACCGCTAGGACTCCgg                                                                                                                                            <  2:186262/149‑1 (MQ=37)
        cAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCAAATTCTGTTCTGGCTGCGTTCGGCGTATACCGCTAGGACTCCgg                                                                                                                                            >  1:381411/1‑149 (MQ=255)
           gcgcAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGTGa                                                                                                                                         >  1:579563/1‑149 (MQ=255)
            cgcAGTGTAAGATCTCGCTTCAGGCTCCTGGTAGGGTTGGTCATTACAGTTTTCCACTATTGTCAGTTCAGGGGGATGCTCATCAGGCAGGGATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGat                                                                                                                                        <  2:685972/149‑1 (MQ=255)
                gtgtAATCTCCCGCTGCAGGCCCCTGGGAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGTCTCCGGCGCTATcc                                                                                                                                    >  2:856549/1‑149 (MQ=255)
                gtcgaaTCTCCCGCTGCAGGCTCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATcc                                                                                                                                    <  1:824386/145‑1 (MQ=255)
                    aaTCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTCGCGGCGTTCGGCGTATGCCGCTCGGACTCCGGCGATAGCCggga                                                                                                                                >  1:214625/1‑147 (MQ=255)
                      tctcCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTTGCGGCGTTCGGCGGATACCGCTCGGACTCCGGCGATATCCGGAACg                                                                                                                              >  1:850918/1‑149 (MQ=255)
                        tcCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTc                                                                                                                            >  1:650263/1‑149 (MQ=255)
                            gCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTg                                                                                                                        >  1:628187/1‑149 (MQ=255)
                               gCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCg                                                                                                                     <  2:219847/149‑1 (MQ=255)
                                 aGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGGGATATCCGGAACGTCCCTACCCgt                                                                                                                   >  2:306596/1‑149 (MQ=255)
                                 aGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTgagggt                                                                                                                   >  2:568272/1‑144 (MQ=255)
                                 aGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGgt                                                                                                                   >  1:565365/1‑149 (MQ=255)
                                                     cATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGt                                                                                               <  2:650263/149‑1 (MQ=255)
                                                         aCAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTGGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCa                                                                                           <  2:655623/149‑1 (MQ=255)
                                                             ttCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTgg                                                                                       <  1:779782/149‑1 (MQ=255)
                                                             ttCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTGCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGATACCGTTCCACCgg                                                                                       >  2:154350/1‑149 (MQ=25)
                                                                tcCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGCCAGACGCTACCGTGGCCCTGGTAt                                                                                    >  1:247601/1‑149 (MQ=255)
                                                                      aTTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCg                                                                              >  1:140731/1‑149 (MQ=255)
                                                                       tgtggaGTTCAGGGTGATGCTTATCGGGTCGGTAGAGGGCTCATTGCGTTCTTGGCGGCGTTCGGCGTATACCGCTAGGTCTCCGGCGATATCCGGAACGTGCCTGCCCGTGTAATCACCGACGATCCCGTGCCACTGGTATTTGcctg                                                                             <  2:299023/144‑3 (MQ=255)
                                                                           cAGGTCGGGGGGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCa                                                                         <  2:800001/149‑1 (MQ=255)
                                                                                             atcaGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAACGATTCGGGa                                                       >  1:70039/1‑149 (MQ=255)
                                                                                             atcaGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGa                                                       <  2:43601/149‑1 (MQ=255)
                                                                                             atcaGGAAGGTATAGTGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGTCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGa                                                       <  2:787128/149‑1 (MQ=255)
                                                                                                      gTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGTACTCAGGATg                                              >  2:525872/1‑149 (MQ=255)
                                                                                                       tataGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGCGTAATGACAGACGCTACTGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGc                                             >  1:801913/1‑149 (MQ=255)
                                                                                                            ggCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCg                                        >  1:267456/1‑149 (MQ=255)
                                                                                                            ggCCCATTGCGGTCCTGGCGGCGTTCGGAGTATACCGCTAGGAATCCGACTATATCTGGAACGTCCCTGCCGGTGTAGTGACCGACGCTACCGTGCCCCTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGCAGCCAGGATGCTGGCg                                        >  2:145553/1‑149 (MQ=17)
                                                                                                                cATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGtat                                    >  1:108448/1‑149 (MQ=255)
                                                                                                                cATGGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGtat                                    <  2:628187/149‑1 (MQ=255)
                                                                                                                       gTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCa                             <  2:140731/149‑1 (MQ=255)
                                                                                                                        tCCTGGCGGCGTTCGGCGTATACCGCTGGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGAGTCAGGAAGCTGGCGGTATATCGTcct                            >  2:179661/1‑147 (MQ=17)
                                                                                                                               ggcgTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTg                     >  2:869322/1‑149 (MQ=255)
                                                                                                                                gcgTTTGGCGTATACCGCTAGGACTTCGGTGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGc                    <  2:334664/149‑1 (MQ=255)
                                                                                                                                  gtgcGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCCGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGt                  <  1:175272/146‑1 (MQ=255)
                                                                                                                                      cgCGTATACCGCTAGGGCTCCGGCGATATCCGGAACGTCCCGGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTAc              <  1:264444/148‑1 (MQ=255)
                                                                                                                                         ggataCCGGGAGGCCTCCGGTGATGTGCGGGAGGTGCGTGTGAGGGAACTGAGAGGCGGTACGGTGCCACGTGGATTTGCTGGCGCAGTAGGGACAGATTCGGGCCTCAGGAGGCTGGCGGTATATCGGCATTGCCCTGCGTTTACTGa           <  2:48768/147‑1 (MQ=255)
                                                                                                                                              ccGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTc                              >  1:868884/1‑125 (MQ=255)
                                                                                                                                              ccGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTc                              <  2:868884/125‑1 (MQ=255)
                                                                                                                                              ccGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAAtt      <  2:614522/149‑1 (MQ=255)
                                                                                                                                              ccGCTAGGACTCCGACGATATCCGGAACGTCACTGCCGGTGTAATGACAGACGCTACCGTGCCTCTGGTGTTTGCCGGTGCAGTACCGAACAATTCGGGACTCAGAATGCTGGAGGTATATCGTCATTGCCCTCCGTTTTCTGCTAAtt      >  2:717409/1‑149 (MQ=14)
                                                                                                                                               cgctAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTCCCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAAttt     >  1:763374/1‑149 (MQ=255)
                                                                                                                                               cgctAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATTTCGCCATTGCCCTGCGTTTACTGATAAttt     >  2:776183/1‑149 (MQ=255)
                                                                                                                                               cgctAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAAttt     >  1:236981/1‑149 (MQ=255)
                                                                                                                                               cgctAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAAttt     >  1:236965/1‑149 (MQ=255)
                                                                                                                                                  gAGGGCGCCGGCGAGATGCGGAAAGTCCCTGCCGGTGTAATCGCAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAATTTTCa  <  1:568272/149‑1 (MQ=14)
                                                                                                                                                  |                                                                                                                                                    
CGGGCTCCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGCCCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACTGATAATTTTCA  >  NC_000913_3_hsa_tpiA/263952‑264246

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: