Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 195,316 G→A 9.0% T138T (ACG→ACA ispU → undecaprenyl pyrophosphate synthase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA195,3160GA 9.0% 114.4 / 3.7 54T138T (ACG→ACAispUundecaprenyl pyrophosphate synthase
Reads supporting (aligned to +/- strand):  ref base G (21/25);  new base A (3/2);  total (26/28)
Fisher's exact test for biased strand distribution p-value = 6.56e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.45e-01

TTGTGTGGGCGCTCGATAGCGAAGTAAAAAGTCTGCACCGACATAACGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAACTGGCCC  >  NC_000913_3_hsa_tpiA/195168‑195464
                                                                                                                                                    |                                                                                                                                                    
tggtgtgGGTGCTGGATAGCGAAGGAAAAAGTCTGCCCCGACATAACGTGCGTCTGCGTATTATTGGCGATACCAGGCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACg                                                                                                                                                      <  2:441279/147‑1 (MQ=255)
      gggAGCTCGATAGGGAAGTAAAGAGGGTGCACCGACATAACGTGCGTCGTCTTATTATTGGCGATACCAGTCGCTTTAACTCTTGTTTGCAAGAACGTATTCGTAAATCTGAATCGCTAACAGCCGGGAATACCGGTCTGACGCTGAat                                                                                                                                                <  2:170948/149‑1 (MQ=255)
            tCGATAGCGAAGTAAAAAGTCTGCACCGACATAACGTGCGTCTGCGTATTATTGGAGATACCAGTCGCTTTAACTCGCGTTTGCATGAACGTATTCGTAAGTCTGAAGCGCTAGAAGCCGGGAATACCGGCCTGACGCGGAATACTgcg                                                                                                                                          >  2:211703/1‑149 (MQ=255)
                       gTAAAAAGCCTGCACCGAAATAACGTGCGTCTGGGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACgg                                                                                                                               <  2:213773/149‑1 (MQ=255)
                          aaaaGTCTGCACCGACATAACGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACtcggggtg                                                                                                                            >  2:571940/1‑142 (MQ=255)
                            aaGTCTGCACCGACATAACGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGAc                                                                                                                          >  1:554478/1‑149 (MQ=255)
                            aaGTCTGCACCGACATAACGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTAGTAAATCTGAAGCGCTAACAACCGGGAATACCGGTACAACGCTGAATATTGCGGCGAACTCCGGTGGAc                                                                                                                          >  2:104699/1‑149 (MQ=255)
                                 tGCACCGTCATAACTGGCGTCTGCGTATTATTGGGGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTgg                                                                                                                     <  1:590618/149‑1 (MQ=255)
                                       gACATAACGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGCCGTTGGGAtata                                                                                                               >  1:513502/1‑149 (MQ=255)
                                          aTACCGTGCGTCTGCGTATTATTAGCGATACCAGTCGCTTTAACTCGCGTTTGCAATAACGTCTTAGTATATCTGAAGCGCTAACAGAGGGGATTACCGGTCTGACGCTTAATTTTGCGGCCAACAATGGTGTAGGTTGGGagtgagtc                                                                                                            >  2:331397/1‑142 (MQ=255)
                                            aaCGTGCGTCTGCGTATTATTGGGTATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCa                                                                                                          <  2:659779/149‑1 (MQ=255)
                                            aaCGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCa                                                                                                          >  1:685289/1‑149 (MQ=255)
                                                   gTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGCTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAggc                                                                                                   >  2:105013/1‑147 (MQ=255)
                                                     cTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAg                                                                                                 <  1:485179/149‑1 (MQ=255)
                                                           attattGCCGATACCAGTCGCTTTAACACGCGTTTGCAAGAACGTATTCGTAACTCTGAAGAGCTAACAGCCGGGAATACCGGTCTGACGCTGAACATTGCGGCGAACTACGGTCGACGCTGGGCTATTGTCCAGGGAGTCAGGCGACt                                                                                           >  2:560330/1‑149 (MQ=255)
                                                               ttGGCGATACCAGTCGCTGTAACTCGCGTTTGCAAGAACGTATTCGTAAGTCTGAAGCGCTAACAGCCGGGAATACCGGTCTCACGCTGAATATTGCGGCGAGCTACGGGGGACGGTGGGAGATAGTCCGGGGGGTCAGGCAAcggcga                                                                                       >  2:434070/1‑144 (MQ=255)
                                                                  gCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAATTACGGTGGACGTTGGGAGATAGTCTAGGGAGTCAGGCGACTggataaa                                                                                    >  1:515405/1‑144 (MQ=255)
                                                                   cGACACGAGGCGCTTTAACGCGGCTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGGCTGGAATACCGGTCTGACGGTGAATATTTCGGCGAACTACTGTGGACGTTTGGATATAGTCCAGGGAGTCAGGCAACTGGCTGaaa                                                                                   <  2:501768/149‑1 (MQ=255)
                                                                    gATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGTGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGaaaa                                                                                  <  2:37484/149‑1 (MQ=255)
                                                                       aCCAGTCGCTTTAACCCGCGTTTGCCAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGt                                                                               <  1:675803/149‑1 (MQ=255)
                                                                        ccAGTCGCTTTAACCCGCGTTTGCATAAACGTATTCGTAAAGCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGTTGAATATTGCGGCGAACGACGGGGGACGTTGGGATAGAGTACAGGGAGTCAGGCAACTGGCTGAAAAGGTg                                                                              <  2:560745/149‑1 (MQ=255)
                                                                          aggcggtttAAGTGGCGTTTGCAAGAACGTATGCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTgca                                                                            <  2:131678/143‑1 (MQ=255)
                                                                            tCGCTTTAACTCGCGTTTGCAAGAACGTATTCGGAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTAAGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTgcagc                                                                          <  1:306684/149‑1 (MQ=255)
                                                                               cTTTAGCGCGTGTTTGCAAGAACGTATTCGGAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGTACTACGGTGGACGGTGTGATATAGTCCAGGGAGTCAGGCAACTGGTTGAAAAGGTGCAGCAAg                                                                       <  2:76996/149‑1 (MQ=255)
                                                                               cTTTAACTCGCGTTTGCCAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAg                                                                       <  1:580782/149‑1 (MQ=255)
                                                                                    aCTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACACTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAAc                                                                  >  1:651767/1‑149 (MQ=255)
                                                                                    aCTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACACTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAAc                                                                  >  1:653072/1‑149 (MQ=255)
                                                                                      tCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGCATATAGTCCAGGGAGTCAGGCAACTGGCCGACAAGGTGCAGCAAGGAAACCt                                                                >  2:87773/1‑149 (MQ=255)
                                                                                      tCGCGTGTGCAAGAAAGTATTACTAAATCTGAAGCGCTAGCAGCAGGGAATACCGGTCTGACGGTGAATATTGCGTCGAACTACGTTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAAACt                                                                <  2:656901/149‑1 (MQ=255)
                                                                                           tttGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTTTGACGCTGAATATTGCGGCGAACTGCGGTGGACGTTGGGATATAGTCCAGGGGGTCAGGCAACTGGCTGAAAGGTGGCAGCAAGGAAACCTGCAAc                                                           >  2:44754/1‑149 (MQ=255)
                                                                                                aaGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACcagat                                                      >  1:459994/1‑149 (MQ=255)
                                                                                                 aGAAAGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACACTGAATATTGAGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGGCAGGCAACTGGATGAAAAGGGGCAGCACAGAAACCTGCAAAcagatc                                                     >  2:153688/1‑149 (MQ=255)
                                                                                                  gAACGTATTCGTAAATGTGAGGCGCTAACAGCCGGGAATACCGGGCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCGGGGAGTCAGTCAACTGGCTGCAAAGGTGTGGCAAGGACACCTGCAACcagagca                                                    >  2:179389/1‑149 (MQ=255)
                                                                                                  gAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTTCGGTGGACGTTGGGATATACTCCAGGGAGTCAGGCAAGTGGCTGAAACAGTCCGGACACGAAAGCTGCAAAcagagca                                                    >  2:237964/1‑149 (MQ=255)
                                                                                                       tATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACCCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATCTAGTCCAGGGAGCCAGGCAACTGGCTGAAAAGGTGCACCAAGGAAACCTGCAACCACATCagatag                                               >  2:237719/1‑149 (MQ=255)
                                                                                                        aTTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCagataga                                              <  1:660267/149‑1 (MQ=255)
                                                                                                               aaTCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTACGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGGCAGGCAACTGGCTGAAAAGATGCAGCAAGGGAACCCGCAACCAGATGCGATAGATGAagag                                       >  2:215611/1‑149 (MQ=255)
                                                                                                                agcTGAAGCCCTAACAGCCGGGAATACCGGACAGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGGCAGGCAACTGGCTGAAAATGTGCAGCAAGGAAACCCGCAACCAGATCAGATAGATGAAgaga                                      <  1:4016/147‑1 (MQ=255)
                                                                                                                aTCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAgaga                                      >  1:455342/1‑149 (MQ=255)
                                                                                                                   tGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGGTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACAAGATCAGGTAGATGAAGCGATga                                   >  1:268962/1‑148 (MQ=255)
                                                                                                                   tGAAGCGCTAACAGCCGGGAATACAGGACAGTCTCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGc                                   >  1:336675/1‑149 (MQ=255)
                                                                                                                        cgcTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCCACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGCTGAAGAGATGCTAAAc                              <  1:600925/149‑1 (MQ=255)
                                                                                                                          cTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGAGATATAGTCCAGGGAGTCAGGCAATTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATTAGATAGATGAAGAGCTGCTAAACCa                            >  2:355153/1‑149 (MQ=255)
                                                                                                                          cTAACAGCCGGGAATACCGGTCTGACACTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCa                            <  2:651767/149‑1 (MQ=255)
                                                                                                                          cTAACAGCCGGGAATACCGGTCTGACACTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCa                            <  2:653072/149‑1 (MQ=255)
                                                                                                                           tAACAGCGGGGAATAACGGTCGGACGTTGAATCTTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAg                           <  2:295234/149‑1 (MQ=255)
                                                                                                                            aaCAGCGCGGAACGCCGGGCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATGGTCCAGGGAGCCAGGTAGCTGGCTGAAAGGCTGCAGCAAGGAAACCGGCAACCAGATCAGATAGATGAAGTTAGGCTAAACCAGc                          <  2:463830/149‑1 (MQ=255)
                                                                                                                            aaCACCCGAGAATACCGGTCTTACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACAGTGCGAAAACGTGAACTGTAGAGGGTTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGc                          <  1:161441/149‑1 (MQ=255)
                                                                                                                              cAGCCGGGAAGACCGGTCTGACTCTGAAGATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAATCCAGCAt                        <  2:331050/149‑1 (MQ=255)
                                                                                                                                      aagaCCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTAt                <  2:576911/146‑1 (MQ=255)
                                                                                                                                         aCCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGACACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCa             >  2:499639/1‑149 (MQ=255)
                                                                                                                                              tCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAAc        <  1:651710/149‑1 (MQ=255)
                                                                                                                                               ctcaCGCTTAACATGGCGGTCAACTACGTTGGACGTTGGGATATAGTCCAGGGAGCCAGGCAACTGGCTGAAAAGGGGGAGCAAGGAACCCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAACt       <  2:247097/146‑1 (MQ=255)
                                                                                                                                                  aCGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAACTGGc    <  1:355576/149‑1 (MQ=255)
                                                                                                                                                  aCGCTGAATATCGGGGTGAACTACGGTGGACGTTGGGATAAAGTCCAGGGAGTGAGGCAGCGGGGGGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAACTGGc    <  1:216081/149‑1 (MQ=255)
                                                                                                                                                    gCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAACTGGccc  <  1:589928/149‑1 (MQ=255)
                                                                                                                                                    |                                                                                                                                                    
TTGTGTGGGCGCTCGATAGCGAAGTAAAAAGTCTGCACCGACATAACGTGCGTCTGCGTATTATTGGCGATACCAGTCGCTTTAACTCGCGTTTGCAAGAACGTATTCGTAAATCTGAAGCGCTAACAGCCGGGAATACCGGTCTGACGCTGAATATTGCGGCGAACTACGGTGGACGTTGGGATATAGTCCAGGGAGTCAGGCAACTGGCTGAAAAGGTGCAGCAAGGAAACCTGCAACCAGATCAGATAGATGAAGAGATGCTAAACCAGCATGTCTGTATGCATGAACTGGCCC  >  NC_000913_3_hsa_tpiA/195168‑195464

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: