Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 1,544,021:1 +A 76.5% coding (40/1389 nt) narU ← nitrate/nitrite transporter

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,544,0211.A76.5% 145.9 / 43.2 51coding (40/1389 nt)narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base . (8/4);  new base A (19/20);  total (27/24)
Fisher's exact test for biased strand distribution p-value = 3.35e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.88e-01

GATTTTATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGCAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTG  >  NC_000913_3_hsa_tpiA/1543872‑1544163
                                                                                                                                                      |                                                                                                                                                
gATTTTATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTcgcg                                                                                                                                                   >  1:291194/1‑150 (MQ=255)
  ttttATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTcgcgaa                                                                                                                                                 <  1:175151/150‑3 (MQ=255)
       ttGAGATTAACGTTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAaaaaag                                                                                                                                         <  2:578585/150‑3 (MQ=255)
           gaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACTACTGCCTGATATACAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATaa                                                                                                                                      <  1:201721/150‑1 (MQ=255)
             ttAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACg                                                                                                                                    >  2:217752/1‑150 (MQ=255)
                      aCTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTAttttt                                                                                                                           <  3:276119/150‑1 (MQ=255)
                               aaTAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTg                                                                                                                  >  1:518276/1‑150 (MQ=255)
                               aaTAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTg                                                                                                                  <  4:285667/150‑1 (MQ=255)
                                 tAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCa                                                                                                                <  1:398692/150‑1 (MQ=255)
                                 tAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCa                                                                                                                >  2:109775/1‑150 (MQ=255)
                                    gaTCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTg                                                                                                             <  2:387453/149‑1 (MQ=255)
                                    cATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTg                                                                                                             <  1:468907/150‑1 (MQ=255)
                                        cAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCat                                                                                                         >  1:221170/1‑150 (MQ=255)
                                         aGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGCTTCCAGTCGCGAACAAAGATAACGACTATTTTTCTCATTTTGCAGTTCCaga                                                                                                        >  2:318388/1‑148 (MQ=255)
                                            cacaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTg                                                                                                     <  4:7182/150‑1 (MQ=255)
                                            aacaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTTTGGTTTCAAAAAAAAAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTg                                                                                                     <  2:393698/149‑1 (MQ=255)
                                                    gCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGTTTTTCTGGTTTCCAGTTGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcac                                                                                             >  1:285022/1‑150 (MQ=255)
                                                    gCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcac                                                                                             >  4:116223/1‑150 (MQ=255)
                                                       agaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATg                                                                                          <  1:104312/150‑1 (MQ=255)
                                                           gTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGAGAAAAAAGATAACGACTATTTTTTTCATTTTGCAGTGACATATTATTCCTCACATGcaca                                                                                      >  2:474967/1‑150 (MQ=255)
                                                             aGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcacaca                                                                                    >  1:91341/1‑150 (MQ=255)
                                                                cAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg                                                                                 <  2:248677/150‑1 (MQ=255)
                                                                 aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTgg                                                                                >  1:352675/1‑150 (MQ=255)
                                                                  actgactgATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTATAATTTTGCAGTGCCATATTGTTTCTCACATGCACACATTGGt                                                                               >  3:13788/1‑150 (MQ=255)
                                                                    tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTaa                                                                             >  1:416891/1‑150 (MQ=255)
                                                                      actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATg                                                                           >  1:403/1‑150 (MQ=255)
                                                                             tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa                                                                    >  4:64633/1‑150 (MQ=255)
                                                                             tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa                                                                    <  1:363955/150‑1 (MQ=255)
                                                                                agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTTTTTTTTTTCTGTTCCATATTGTTCGTCACATGCATACATTGGTAATGAAAAAAAGAc                                                                 >  2:65473/1‑150 (MQ=255)
                                                                                agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGAc                                                                 >  3:329465/1‑150 (MQ=255)
                                                                                      ttcttcGAGCAATATGTTTTCCTTTATTTTCCAAGAAGGACGGATATTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTAATTTTCTCACTTTGCAGTCCCATATTGTTCCTCACTTCCACACAAAAAAAAAAAAAAAAAGACAAAaca                                                           <  4:178050/150‑1 (MQ=255)
                                                                                         ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGCAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGa                                                        >  2:75194/1‑150 (MQ=255)
                                                                                             aGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTa                                                    >  3:134594/1‑150 (MQ=255)
                                                                                             aGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTa                                                    <  1:53133/150‑1 (MQ=255)
                                                                                               cAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAg                                                  >  4:204912/1‑150 (MQ=255)
                                                                                               cAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAg                                                  <  1:513780/150‑1 (MQ=255)
                                                                                                 atatGTTTTCATTTATTTTACCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACAATAGAAAAAAAAAAAAGACAAAACACGAGGTAAGgc                                                <  4:89277/150‑1 (MQ=255)
                                                                                                 atatGTGTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTGTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGgc                                                >  4:158729/1‑150 (MQ=255)
                                                                                                           cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa                                      <  2:291194/150‑1 (MQ=255)
                                                                                                           cTTTATCTTCCCAGAAGGCCGGATTCTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCAATATCGTTCCACCCATGAAAACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa                                      <  2:499178/150‑1 (MQ=255)
                                                                                                           cTTTAGTTGCCCAAGAGGCCGAATTTTCTGGTTTCCAGTCGCGAAAAAAAATAACGACTATTTTTCTCATTTTGCAGTGCCAAATTGTTCCTCACATGCACACATTGGTAATGAGAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa                                      <  2:391031/150‑1 (MQ=255)
                                                                                                            tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTTTCTTTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg                                     >  2:36814/1‑150 (MQ=255)
                                                                                                            tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCTCACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg                                     <  1:427324/150‑1 (MQ=255)
                                                                                                            tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg                                     >  2:10151/1‑150 (MQ=255)
                                                                                                                    cccAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGa                             >  1:518765/1‑150 (MQ=255)
                                                                                                                     ccAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGaa                            <  2:352675/150‑1 (MQ=255)
                                                                                                                         aaGGCCGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGTCTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTaa                        <  1:174321/150‑1 (MQ=255)
                                                                                                                             ccGGATTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGAt                    >  2:105650/1‑150 (MQ=255)
                                                                                                                                 aTTTTCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAAt                <  1:226915/150‑1 (MQ=255)
                                                                                                                                    ttCTGGTTTCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAACAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg             >  3:379545/1‑150 (MQ=255)
                                                                                                                                          tttCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAg       <  2:328743/150‑1 (MQ=255)
                                                                                                                                            tCCAGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACCTTGGTAATGAAGAAAAGACAAAACACGCGGTAAGGCGCAATAGCCAGTTATTAGAATTACGGATGGATTGGGTGAAGTg     >  1:312087/1‑150 (MQ=255)
                                                                                                                                               aGTCGCGAAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTg  >  1:49498/1‑150 (MQ=255)
                                                                                                                                                      |                                                                                                                                                
GATTTTATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGCAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTG  >  NC_000913_3_hsa_tpiA/1543872‑1544163

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: