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% 142.1 / NA 45Q382K (CAG→AAG) gabPgamma‑aminobutyrate transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (19/26);  total (19/26)
Rejected as polymorphism: Frequency below/above cutoff threshold.
Rejected as polymorphism: Variant not supported by required number of reads on each strand.

CCCGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAA  >  NC_000913_3_hsa_tpiA/2795251‑2795533
                                                                                                                                                 |                                                                                                                                         
cccGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGt                                                                                                                                        <  2:409048/149‑1 (MQ=255)
       gTGGCGCTGTTACTCTCCACCGGCGCGGCATTCTTGACGGGGGTGGTGAAATATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGCCAGCTCCTGCGCTATCGCCCTGCTTGTTTATTTAGTCATCGCCCTCTAAAAGTTCCGGaa                                                                                                                                 >  2:377940/1‑148 (MQ=255)
         ggCGGTTTTTCTCTCCACCGTCGCGGCATTTTTAACGGTGGTTGTGAACTATTACGCGTCTGTGAAGGTATTTACATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGTCGTTTCAAAGTTGCGGATgc                                                                                                                               <  2:728628/149‑1 (MQ=255)
                  aCTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATGGACAGCTCCGGCGCTCTCGCCCTGCTGGTTTATTTAGTCATCGTCGTTTCAATGTTACGGATGCGCAAAATTc                                                                                                                      >  2:348666/1‑149 (MQ=255)
                    tctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTg                                                                                                                    >  1:177285/1‑149 (MQ=255)
                     ctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGc                                                                                                                   <  2:592329/149‑1 (MQ=255)
                        cACCGGCGCGGCATTCTTAACGGTGGTGGTGTACTATTACGCGCCTGCGAAGGTATTTAAATTTCTAATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAg                                                                                                                <  2:211706/149‑1 (MQ=255)
                             gcgcGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaa                                                                                                           <  1:393788/149‑1 (MQ=255)
                             gcgcGGCATTCTTAACGGTGGTGGTGAACCATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAgaa                                                                                                           <  1:721062/149‑1 (MQ=255)
                                   cATTCGTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGGTTCAAAGTTGCGGATGTGCAAAATTCTGCAAGCAGAAGGAAGc                                                                                                     <  2:732311/149‑1 (MQ=255)
                                    aTTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCg                                                                                                    >  2:592883/1‑149 (MQ=255)
                                        ttAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCCGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAAt                                                                                                >  1:793977/1‑149 (MQ=255)
                                            cGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGc                                                                                            <  1:114888/149‑1 (MQ=255)
                                               tggtggtgAACTATTACTCGCTTGCGAAGGTATTTAATTTTCTGTTCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTg                                                                                         <  1:634486/149‑1 (MQ=255)
                                                    gtgAACTCTTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAAt                                                                                    <  1:541709/149‑1 (MQ=255)
                                                        aCTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTgg                                                                                <  1:417018/149‑1 (MQ=255)
                                                          tcttACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGATTACTCCCTTCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                              <  1:825039/147‑1 (MQ=255)
                                                          tATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAATTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                              >  1:699982/1‑149 (MQ=255)
                                                          tATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                              >  1:794209/1‑149 (MQ=255)
                                                          tATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                              >  2:138483/1‑149 (MQ=255)
                                                             tACGCGCCTGTGAAGGTATTTAAATTTCTGATAGACAGCTCCGGCGCGATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTa                                                                           <  1:285416/149‑1 (MQ=255)
                                                               cgcgCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATc                                                                         >  1:632016/1‑149 (MQ=255)
                                                                        gAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCa                                                                >  1:373327/1‑149 (MQ=255)
                                                                                               aCAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGAGGATGATGAAATTTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATTTGTCGGTATCCGTGGCTCCCCTGGCTAGTCAGCGGCTgtatt                                         >  1:702878/1‑149 (MQ=255)
                                                                                                 aGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTAc                                       >  1:446686/1‑149 (MQ=255)
                                                                                                  gCTCCGGCGCTATCGCTGTGTTGGTTTAGTTAGTCATTGCACATTAAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAATCGAAATTCGCTTGCGCATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTAcc                                      <  2:284001/149‑1 (MQ=255)
                                                                                                   cTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCt                                     >  1:55361/1‑149 (MQ=255)
                                                                                                     ccGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCttt                                   <  1:259821/149‑1 (MQ=255)
                                                                                                           cTATGGCCCTTCTGGCTGACTTGGTCATCGCCGTTTTAAAGTTGCGGCTGCACAAAATACTACCAGGAGAAGGAAGCGAAAATCGGTTGCGAATTTTGCTTTATCCGTCGCTCACCTGGCTAGTCATCTGCTTTATTACCTTTGTGTTg                             <  2:375218/149‑1 (MQ=255)
                                                                                                            tATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTgg                            <  2:91103/149‑1 (MQ=255)
                                                                                                             aTCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTCGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACTTTTGTGTTGGt                           >  1:723014/1‑149 (MQ=255)
                                                                                                              tCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTa                          <  1:678185/149‑1 (MQ=255)
                                                                                                              tCGCCCTGCTGCTTTAGTTCGTCAGTGTCGGTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCTAAATTCGCTTGCGAATGGGTCTTTATCCGGGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTa                          <  2:449866/149‑1 (MQ=255)
                                                                                                                   ctgctgGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAGGCGAAATTCGCTTGCGAATGGGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGCTTGTATTACCGCTGTGTTGGTacggca                     >  2:244566/1‑144 (MQ=255)
                                                                                                                      ctgGTTTATTTAGTCATCGCCGTTTCCAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATggt                  >  1:373950/1‑147 (MQ=255)
                                                                                                                      ctgGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGCAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGGTGGTAGTGATGCt                  >  1:72626/1‑149 (MQ=255)
                                                                                                                       tgGTTTATTTAGGCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTa                 <  1:305761/149‑1 (MQ=255)
                                                                                                                        ggTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTCATCCCACACTCATCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTAt                <  1:795599/149‑1 (MQ=255)
                                                                                                                         gTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTAtt               >  1:731692/1‑149 (MQ=255)
                                                                                                                            tatttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtccg            <  1:673402/149‑1 (MQ=255)
                                                                                                                             atttaGTCATCGCCGTTTCAAAGTTGGGTATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtccgt           <  2:258904/149‑1 (MQ=255)
                                                                                                                              tttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtccgtc          <  2:701465/149‑1 (MQ=255)
                                                                                                                                tattCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtccgtccg        <  1:222279/146‑1 (MQ=255)
                                                                                                                                    cagtgCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGgcgc    <  2:536569/145‑1 (MQ=255)
                                                                                                                                      tCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCaa  >  1:274919/1‑149 (MQ=255)
                                                                                                                                                 |                                                                                                                                         
CCCGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAA  >  NC_000913_3_hsa_tpiA/2795251‑2795533

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: ‑