Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 2,795,396 C→A 100% Q382K (CAG→AAG)  gabP → gamma‑aminobutyrate transporter

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,795,3960CA100.0% 106.2 / NA 37Q382K (CAG→AAG) gabPgamma‑aminobutyrate transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (18/19);  total (18/19)
Rejected as polymorphism: Frequency below/above cutoff threshold.
Rejected as polymorphism: Variant not supported by required number of reads on each strand.

CGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACA  >  NC_000913_3_hsa_tpiA/2795257‑2795535
                                                                                                                                            |                                                                                                                                           
ggTGGCGGTGTTGCTCTCCGCCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCGTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGa                                                                                                                                    <  1:590421/148‑1 (MQ=255)
  tGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATg                                                                                                                                  <  2:8683/149‑1 (MQ=255)
      ggTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCTCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCa                                                                                                                              >  2:201928/1‑149 (MQ=255)
         gtTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCaaaa                                                                                                                           <  1:555685/149‑1 (MQ=255)
            aCTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTc                                                                                                                        >  1:524102/1‑149 (MQ=255)
              tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGCACTACTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAACATTCTg                                                                                                                      >  2:571889/1‑149 (MQ=255)
              tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTg                                                                                                                      <  1:635562/149‑1 (MQ=255)
                  cACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTCCGGATGCGCAAAATTCTGcagg                                                                                                                  >  2:295391/1‑146 (MQ=255)
                     cGGCTCAGCATTCTTAACGGTCGCGGTGAACTATTCCGGGCCTTCTAAGGTATTTAAATTTCTGATCGATACCTCGGACGCAA‑TCGCCCTGCTGGTTTATTTTTTCATCGCAGTTTCAAAGTTCCCAATGCTCAAAGTTCTGCGATCac                                                                                                               <  2:402450/149‑2 (MQ=255)
                            gCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATAGACAGCTCCGGCGCTA‑TCGCCATGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGAagaaagaac                                                                                                        >  2:493981/1‑148 (MQ=255)
                                     aCGGTGGTGGTGAACGATTACGCGGCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCg                                                                                               <  1:153746/149‑1 (MQ=255)
                                         tggtggtgAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGACCTACTGTTTTATTTAGTCATCGCACTTTCAACCTTGCGGATCAGCAAAATTCTGCGAGCAGAAGGAGGCGAAATTCGCTTg                                                                                           >  2:328209/1‑149 (MQ=255)
                                         ggtgggtgAACTAGTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCGGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCTCAAAATTCTGCGAGCAGAAGGAAGCGCAATTCGCTTg                                                                                           <  2:294255/145‑1 (MQ=255)
                                            tggtgAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTTCGAGCAGAACGAAGCGAAATTCCCTTGCGa                                                                                        >  2:179084/1‑149 (MQ=255)
                                               tgAACTATTACGCGCATGCGAATGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAAtg                                                                                     <  2:8758/149‑1 (MQ=255)
                                                      ttACGCGCCTTCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGGAATTCGATTGCGAATGTGGCttt                                                                              >  2:171648/1‑149 (MQ=255)
                                                      ttACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAATCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCGGAAGGAAGCGACATTCGCTTGCGAATGTGGCttt                                                                              >  2:18416/1‑149 (MQ=255)
                                                          gcgcCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATcc                                                                          >  1:638390/1‑149 (MQ=255)
                                                          gcgcCTGCGAAGGTATTTAAATCTCAGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATGGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCCGAAGGGAGCGTAATTCGCTTGCGCATGTGGCTTTATcg                                                                          >  2:6141/1‑148 (MQ=255)
                                                                  taaGGTATTTAAATTTCTGATCGACANCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCa                                                                  <  1:537065/148‑1 (MQ=255)
                                                                   aaGGTATTTAAACTTCTGATCGACAGCTCCTGCGCTA‑TCGCCCTGCTGGTTTATTCAGTCATCGGCGTCTCAAAGTCGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTCGCTCAc                                                                 <  2:512674/149‑1 (MQ=255)
                                                                      gTATTTAAATTTGTGATCGCGAGCTCCGGCGCTAGTCG‑CGTGTTGGTTTCTTTAGTCATCGCCGGTTCAAAGTTGCTGTTGCCCTAAATTCTGCGACTAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTg                                                              <  2:316229/149‑1 (MQ=255)
                                                                               tttCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCAt                                                     >  2:503930/1‑149 (MQ=255)
                                                                                  cgtaTCGACAGCTCCTGCGCTG‑TCGCCCGCCTGGTTTATTTAGGCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCCGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGCCTAGTCATCgg                                                  <  2:4530/146‑1 (MQ=255)
                                                                                    gATCGACAGCTCCGGCGCTA‑CCGCCCGGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCt                                                <  2:297679/149‑1 (MQ=255)
                                                                                    gATCGACAGCTCCGGCGATA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGCCTAGTGATCGGCt                                                >  1:592348/1‑149 (MQ=255)
                                                                                                  gcgcTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTAACACGGCTAGGCATCGGCTCTGTTACCATtgtg                                  >  1:378406/1‑149 (MQ=255)
                                                                                                     cTA‑GCGGCCTGCTTGTTTATTTAGTCATCGCCGTTTCAACGTTGCTGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTg                               <  2:538194/149‑1 (MQ=255)
                                                                                                      tA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTgg                              <  1:459313/149‑1 (MQ=255)
                                                                                                          cGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAg                           <  1:201928/149‑1 (MQ=255)
                                                                                                               tgctgGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCCCACCTGGCTAGTCATCGGCTTTATTACCTTTGGGTTGGTAGTGATg                      >  1:618441/1‑149 (MQ=255)
                                                                                                                  tgttttatttaGTCATCGCGTGTTCAAAGTTGCGGATGCGGAAAATTCTCCTATCAGAAGGAAGCGAAATTCGCTTGTGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTa                   <  2:14627/146‑1 (MQ=255)
                                                                                                                    gTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTTTGTTGGTAGTGATGCTAtt                 >  2:228012/1‑149 (MQ=255)
                                                                                                                      ttatgtaGTCATCGGTGGTGCAATGTTGCGGATGCGCAAAGTTATGGGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCGTTATCCGTGGCTCACCTGGCTAGTCATGGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtcc               <  2:148405/149‑1 (MQ=255)
                                                                                                                      tgattttGTCAGCGGCGTGTCAAAGTTGCGGATGGGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTGATCCGTGGCTCACCAGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtcc               <  1:580023/147‑1 (MQ=255)
                                                                                                                       tatttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtccg              >  1:632889/1‑149 (MQ=255)
                                                                                                                                   gtcGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACa  >  1:424491/3‑149 (MQ=255)
                                                                                                                                            |                                                                                                                                           
CGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTA‑TCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACA  >  NC_000913_3_hsa_tpiA/2795257‑2795535

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: ‑