Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 2,795,396 C→A 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% 130.6 / NA 42Q382K (CAG→AAG) gabPgamma‑aminobutyrate transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (21/21);  total (21/21)

GTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTT  >  NC_000913_3_hsa_tpiA/2795254‑2795538
                                                                                                                                              |                                                                                                                                              
gTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGc                                                                                                                                          >  2:29564/1‑149 (MQ=255)
gTACATGGCGGTGTTACTCTCCATCGGCGCGGCATTCTTAACGGTTGTGGTGAACTATTACGTGCCTGCGAAGGTATTCAAATTTCTGAGCTACCGCTCCGGCGGTATCGCCCTGCTGGGTTATTTAGTCATCGCCGTTTCAAAGTTGc                                                                                                                                          <  1:735726/149‑1 (MQ=255)
        cGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATgcgc                                                                                                                                  >  1:275891/1‑149 (MQ=255)
            gtTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCaaaa                                                                                                                              <  2:40023/149‑1 (MQ=255)
                 tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAATATTCtt                                                                                                                         >  2:41876/1‑148 (MQ=255)
                 tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTg                                                                                                                         <  1:43711/149‑1 (MQ=255)
                      aCCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTGATCGCCGTTTCAAAGTTGAGGATGCGCAACATTCTGCGAGc                                                                                                                    >  2:547069/1‑149 (MQ=255)
                          gcgcGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaa                                                                                                                <  1:544182/149‑1 (MQ=255)
                          gcgcAGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaa                                                                                                                <  2:344494/149‑1 (MQ=255)
                              ggCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGGAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTGGTCGTCGCCGTTTCAAAGTTGCGGATGAGCAAACTTCTGGGAGCAtaaggaa                                                                                                            >  1:97593/1‑149 (MQ=255)
                                                   gAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGctc                                                                                                                      <  1:422987/118‑3 (MQ=255)
                                                   gAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGctc                                                                                                                      >  2:422987/1‑116 (MQ=255)
                                                       tATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                                   >  1:673917/1‑149 (MQ=255)
                                                        aTTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCtt                                                                                  >  2:583493/1‑149 (MQ=255)
                                                                  tGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGAAGAAGGAAGCGAAATTCGCTTGCGAATGGGCCTTTATCTGTGGc                                                                        >  2:480055/1‑149 (MQ=255)
                                                                     gAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTGGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATACGCTTGCGAACATGGCTTTATCCGTGGCTCa                                                                     >  2:505219/1‑149 (MQ=255)
                                                                            tttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCt                                                              >  2:29296/1‑149 (MQ=255)
                                                                            tgtAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCt                                                              <  1:343174/147‑1 (MQ=255)
                                                                                aaTTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTc                                                          <  1:505123/149‑1 (MQ=255)
                                                                                        aTCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCtt                                                  >  1:655909/1‑149 (MQ=255)
                                                                                          cGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTtta                                                <  2:655909/149‑1 (MQ=255)
                                                                                            aCAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTttatt                                              >  2:772975/1‑149 (MQ=255)
                                                                                            aCAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGATTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTttatt                                              <  2:585093/149‑1 (MQ=255)
                                                                                              aGCTCCGGCGCTATCGCCCGGCTGGTTTATTTAGTCATCGGCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTAc                                            <  2:112503/149‑1 (MQ=255)
                                                                                                  ccGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCttt                                        <  1:189760/149‑1 (MQ=255)
                                                                                                     gcgcTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGCATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTtgtg                                     >  1:749723/1‑149 (MQ=255)
                                                                                                     gcgcTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                                   >  1:203087/1‑103 (MQ=255)
                                                                                                     gcgcTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                                   <  2:203087/103‑1 (MQ=255)
                                                                                                        cTATCGCCCTGCTAGTCTATTTTGTCATCGCCGTTTCAAAGTTGCTGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTATTCATCGGCTTTATTACCTTTGTGTTg                                  <  1:57402/149‑1 (MQ=255)
                                                                                                         tATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTgg                                 >  1:686877/1‑149 (MQ=255)
                                                                                                           tCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCCAATGTGGCTTTATCCGTGGCTCACCTGGCTAGCCCTCGGCTTTATTACCTTTCGCTTGGTa                               >  2:450724/1‑149 (MQ=255)
                                                                                                            cGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAg                              <  2:455887/149‑1 (MQ=255)
                                                                                                               ccTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTCTCCGTGGCTCACCGGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGa                           <  1:561244/149‑1 (MQ=255)
                                                                                                               ccTGCGGGTTTATTTAGTCATCGAAGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGa                           <  2:359929/149‑1 (MQ=255)
                                                                                                                ctgctgGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGAt                          >  1:544141/1‑149 (MQ=255)
                                                                                                                      gTTTAATTAGTCATCGCCGTTTCAAAGTTGAGGATGAGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTAATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTAtt                    <  1:76183/149‑1 (MQ=255)
                                                                                                                       tttatttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtc                   >  2:847992/1‑149 (MQ=255)
                                                                                                                        ttatttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTCGCTCACCTGACTAGTATTCGTCTTTATTACCTTAGTGTTGGTAGTGATGCTAtttc                  >  2:744038/1‑147 (MQ=255)
                                                                                                                           tttaGTGATCGTCTTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGGGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtccgtc               <  1:749444/149‑1 (MQ=255)
                                                                                                                                       cGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGt   <  1:829496/149‑1 (MQ=255)
                                                                                                                                        gTTTTAAAGTTGCGGAGTCGCAAAATTCGGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGtt  <  2:319725/149‑1 (MQ=255)
                                                                                                                                        gTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGtt  >  2:86911/1‑149 (MQ=255)
                                                                                                                                              |                                                                                                                                              
GTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAGTT  >  NC_000913_3_hsa_tpiA/2795254‑2795538

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑