Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 1,544,022 1 bp→AA coding (39/1389 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.A80.4% 142.3 / 32.3 51coding (40/1389 nt)narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base . (6/4);  new base A (23/18);  total (29/22)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.95e-01
*NC_000913_3_hsa_tpiA1,544,0220CA100.0% 172.5 / NA 51L13F (TTG→TTT) narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (29/22);  total (29/22)

AGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA  >  NC_000913_3_hsa_tpiA/1543882‑1544170
                                                                                                                                             |||                                                                                                                                                   
agaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCGAGAAGGCCGGTTTTTCTGGTTTCCAGTCGCG‑a‑aaacagta                                                                                                                                              >  1:1031890/1‑144 (MQ=255)
agaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑aaaaagat                                                                                                                                              <  2:583838/149‑5 (MQ=255)
  aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATaa                                                                                                                                             >  1:1007437/1‑149 (MQ=255)
              tGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCATTCGCGAA‑AAAAGATAACGACTATTTTtc                                                                                                                                 >  2:962571/1‑149 (MQ=255)
              tGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTtc                                                                                                                                 >  2:625950/1‑149 (MQ=255)
                cgcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGACAGCCGGATTTTCTGTTTTCCAGTCGCG‑AAAAAAGATAACACTTAttttgtta                                                                                                                               >  1:81865/1‑145 (MQ=255)
                        aGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTTATCTATCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCa                                                                                                                       <  1:781383/149‑1 (MQ=255)
                            tCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGc                                                                                                                   >  1:798577/1‑149 (MQ=255)
                               aGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCat                                                                                                                >  2:816967/1‑149 (MQ=255)
                                gACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCata                                                                                                               <  1:323623/149‑1 (MQ=255)
                                    caGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGt                                                                                                           <  2:45009/149‑1 (MQ=255)
                                      gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc                                                                                                         >  1:926570/1‑149 (MQ=255)
                                      gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc                                                                                                         <  1:604623/149‑1 (MQ=255)
                                          gCAAGAAGTGGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca                                                                                                     <  1:193590/149‑1 (MQ=255)
                                          gCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca                                                                                                     >  2:993457/1‑149 (MQ=255)
                                            aagaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcaca                                                                                                   >  2:825970/1‑149 (MQ=255)
                                             agaagTAAACAAAGAACTAATTTCCAAAACTTTCTTCGATCATTATGTTTGTCTTTATTTTCCAAGAAGGCCGGATTTCCTTGTCTCCACTCGAGAA‑AAAAGAGAACGACTATTTTTCTCATTTTGCATTGCCATATTGTGCCTCACAt                                                                                                  <  2:518797/149‑1 (MQ=255)
                                                  tAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGCCTATTTTTCTCATTTTGCCGTACCATATTGTTACTCACATGcaca                                                                                             >  2:166375/1‑149 (MQ=255)
                                                          tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTc                                                                                                      >  1:195130/1‑132 (MQ=255)
                                                          tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTc                                                                                                      <  2:195130/132‑1 (MQ=255)
                                                          tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGAGAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATTCTCACATTGGTa                                                                                     >  2:925399/1‑149 (MQ=255)
                                                          tgactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGAGAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTa                                                                                     >  2:925353/1‑149 (MQ=255)
                                                           gactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCa                                                                                                                       <  1:651850/114‑1 (MQ=255)
                                                           gactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCa                                                                                                                       >  2:651850/1‑114 (MQ=255)
                                                            actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt                                                                                   <  1:816967/149‑1 (MQ=255)
                                                            actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAAGATAACGACGATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt                                                                                   <  1:704341/149‑1 (MQ=255)
                                                              tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTAGCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACACTGGTAATGa                                                                                 >  2:74039/1‑149 (MQ=255)
                                                                    ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATATTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa                                                                           >  1:703080/1‑149 (MQ=255)
                                                                     cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAATGCCGGATCTTCTGGTTTCCAGTCGCG‑A‑aaaaa                                                                                                                                                 <  1:635088/77‑2 (MQ=255)
                                                                     aagagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑aaaaa                                                                                                                                                 >  2:635088/2‑76 (MQ=255)
                                                                       gagaTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGAc                                                                        >  1:84911/1‑149 (MQ=255)
                                                                        agaTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTATCAAGGGTGTCTGTGCCATATTGTTCCTCACATGCACACATTGGTAGTGAAAAAAAGACa                                                                       >  1:248303/1‑149 (MQ=255)
                                                                           tttCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCCCATGCACACCTTGGTAATGAAAAAAAGACaaac                                                                    >  2:221874/1‑148 (MQ=255)
                                                                               ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAAAACg                                                                >  1:715884/1‑149 (MQ=255)
                                                                                  gAGTAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAgg                                                             <  1:230529/149‑1 (MQ=255)
                                                                                  gAGCAATATGTTATCATTTATTTTCACAGAAGGCCGGATTTTCTGGTTCCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTGACATGCCCACATTGGTAATGAAAGAAAGACAAAACACGAgg                                                             >  2:821765/1‑149 (MQ=255)
                                                                                   aGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACCCGAGGt                                                            >  1:456179/1‑149 (MQ=255)
                                                                                   aGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGt                                                            >  2:12386/1‑149 (MQ=255)
                                                                                    gCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTa                                                           >  1:25982/1‑149 (MQ=255)
                                                                                      aaTATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAg                                                         <  2:703080/149‑1 (MQ=255)
                                                                                        tatGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGgc                                                       <  1:655129/149‑1 (MQ=255)
                                                                                         atGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGgcg                                                      <  1:811575/149‑1 (MQ=255)
                                                                                             tttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCCCACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGCAGCAAt                                                  >  2:655969/1‑149 (MQ=255)
                                                                                              ttCCTTTATTGTCCCGGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGATTATTTTTCTCATTTTGCAGTGCCATATTGGTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATa                                                 <  1:38698/149‑1 (MQ=255)
                                                                                                     aTTTTCCCAGAAGGTCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGtt                                          <  1:61171/149‑1 (MQ=255)
                                                                                                      ttttCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGtta                                         <  1:625950/149‑1 (MQ=255)
                                                                                                           cgaGAAGGCCGGAGTTTCTGGTTTCCAGTCGCGAA‑AAAAAATAACGACTATTTTTCTCAATTTTCAGGGCCATATTGTTCCTCACATGCACCCATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGCCGCAAAAACCAGTTCTTAGa                                    >  2:636707/3‑149 (MQ=255)
                                                                                                            cAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGaa                                   <  1:962571/149‑1 (MQ=255)
                                                                                                                 ggCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg                              <  2:823416/149‑1 (MQ=255)
                                                                                                                             tGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGCTAAATTGGGt                  >  2:577781/1‑149 (MQ=255)
                                                                                                                              ggTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTg                 >  1:854599/1‑149 (MQ=255)
                                                                                                                                   ccAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTg            <  2:1007437/149‑1 (MQ=255)
                                                                                                                                           cgaaaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGACTTAAGGATGAATTGGGTGAAGTGCTGATTg     >  1:202805/5‑149 (MQ=255)
                                                                                                                                              aaaaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa  >  2:553807/2‑149 (MQ=255)
                                                                                                                                             |||                                                                                                                                                   
AGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA  >  NC_000913_3_hsa_tpiA/1543882‑1544170

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑