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% 146.9 / ‑6.7 49Q382K (CAG→AAG) gabPgamma‑aminobutyrate transporter
Reads supporting (aligned to +/- strand):  ref base C (1/1);  new base A (21/26);  total (22/27)
Rejected as polymorphism: E-value score below prediction cutoff.
Rejected as polymorphism: Frequency below/above cutoff threshold.
Rejected as polymorphism: Variant not supported by required number of reads on each strand.

TACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACA  >  NC_000913_3_hsa_tpiA/2795255‑2795535
                                                                                                                                             |                                                                                                                                           
tACGTGGCGGTGTTACTCTCCCCCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCg                                                                                                                                      <  1:656623/149‑1 (MQ=255)
           gttatgctcGACCGGTGCGGCGTTATTAACGCTGGGGGTGAACTACTACGCGCCGTCGAAGGTATTTACATTTCTGATCGACGTCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCaaaa                                                                                                                           <  2:479309/143‑1 (MQ=255)
           gtTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATGTCAATTTCTGATCGACAGCTCCGGCGCCATCGCCCTCGCGGTTTATTTAGTCATCACACTTTCAACGTTGCGGATGCGCaaca                                                                                                                           >  2:337014/1‑147 (MQ=255)
                                           tggtggtgAACTATTACGCGCCTGCGAAGGTATTTCAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTg                                                                                           >  1:228710/1‑149 (MQ=255)
                                                    aCTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTgg                                                                                  <  2:344520/149‑1 (MQ=255)
                                                    aCTATTACGCGCCTGCGAAGGTATTTAAATGTCTTATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTgg                                                                                  <  1:323571/149‑1 (MQ=255)
                                                      tATTACGCGGCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                                <  1:431459/149‑1 (MQ=255)
                                                      tATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTCTTTAGTCATCGCCGTTTCACAGCTGCGGATGCGCAAAATTCTACGAGCAGTGGGAAGGAAAATGCGCATGCGGAGATGGCt                                                                                >  2:478925/1‑149 (MQ=255)
                                                         tACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCttca                                                                             >  2:328373/1‑147 (MQ=255)
                                                             cgcCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCg                                                                         >  1:441756/1‑149 (MQ=255)
                                                              gcCTGCTAATGTCTTTAAATTTCTGATCGACAGCCCCGGCGCTATCGCCCTGCTCGTTTACTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGCTCAGAAGGAATCGAAATTCGCTTGCGAATGTGGCTTTATCCGt                                                                        <  2:175208/149‑1 (MQ=255)
                                                              gcCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCAAGCCGAAGTAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGt                                                                        >  1:299338/1‑149 (MQ=255)
                                                               ccTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTg                                                                       <  2:669024/149‑1 (MQ=255)
                                                                cTGCGAAGGTATTTAAATTTCTGGTCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTgg                                                                      <  1:589077/149‑1 (MQ=255)
                                                                cTGCGAAGGTATGGAAATGTTGGAACGACAGCTCCTGCGCTATCGCCTTGGTGGTGTATTTAGTCTGCGTCTTTTCAAAGATAAAGAAAAGAAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTgg                                                                      <  2:263090/149‑1 (MQ=255)
                                                                cTGCGAAGGCATTTAAATTTCTGATCGACAGCTCCGGCCCTATCGCCCTGCTGGTTTATTTAGTAATCGCCGTTTCAAAGTTGCGGATTCGCAAAATTCTTCGAGTTGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTgg                                                                      <  2:237595/149‑1 (MQ=255)
                                                                cTGAGAAGGTATTTAAATTTCTGATCGACAGGTTCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTGTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGGTTGCGAATGTGGCTTTATCCGTgg                                                                      <  2:143017/149‑1 (MQ=255)
                                                                       ggTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCt                                                               <  1:527256/149‑1 (MQ=255)
                                                                        gTATTTAATTTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTg                                                              <  1:152816/149‑1 (MQ=255)
                                                                          attttattttCTGATCGACAGCTCGGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTTTCGGTTGCGGTTGCTCTAAATTCTGTGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGc                                                            <  2:419262/149‑1 (MQ=255)
                                                                            ttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGGGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTa                                                          <  1:442259/149‑1 (MQ=255)
                                                                            ttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTa                                                          <  1:96007/149‑1 (MQ=255)
                                                                            ttAAAGTTCTGATCGACAGGTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATGCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTa                                                          <  2:453053/149‑1 (MQ=255)
                                                                                    cTGATCGACAGCTCCGGCGATATCGCCCTGGTGGTTTATTTAGTCATCGCCGGTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCgg                                                  <  2:116186/149‑1 (MQ=255)
                                                                                     gtaTCTACGGCTCGGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGc                                                 <  2:339118/147‑1 (MQ=255)
                                                                                      gATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCt                                                <  1:558729/149‑1 (MQ=255)
                                                                                       aTCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCAGCGGCtt                                               >  1:411140/1‑149 (MQ=255)
                                                                                         cGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTtta                                             <  2:482634/149‑1 (MQ=255)
                                                                                           aCAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTttatt                                           >  2:295656/1‑149 (MQ=255)
                                                                                           aCAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTttatt                                           <  1:555658/149‑1 (MQ=255)
                                                                                           aCAGCTCCGGCGCTACCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTttatt                                           <  1:355316/149‑1 (MQ=255)
                                                                                             aGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTAc                                         <  2:2311/149‑1 (MQ=255)
                                                                                             aGCTCCGGCGCTATCGCCCTGCTGAGCTCTTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTCCGAACGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCttttttcc                                         >  2:668131/1‑147 (MQ=255)
                                                                                               cTCAGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCt                                       >  1:455562/1‑149 (MQ=255)
                                                                                                tCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCtt                                      >  1:400721/1‑149 (MQ=255)
                                                                                                       cTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTg                               <  2:550628/149‑1 (MQ=255)
                                                                                                         aTCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGt                             >  1:361414/1‑149 (MQ=255)
                                                                                                          tCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTTTTGGtg                            >  2:249045/1‑148 (MQ=255)
                                                                                                                    ggTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTAt                  <  1:380398/149‑1 (MQ=255)
                                                                                                                      tttatttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAACAGAAGGAAACGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTGGTCTTCGGCTTCATTACCTTTGTCGTGGTAGTTAATCTATtc                >  2:529488/1‑149 (MQ=255)
                                                                                                                         atttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtccgt             >  1:509067/1‑149 (MQ=255)
                                                                                                                          tttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATtccgtc            >  1:651074/1‑149 (MQ=255)
                                                                                                                                 aTCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTGACCTGGCTGGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCAGTCCGCCGCa     >  1:429334/1‑149 (MQ=255)
                                                                                                                                  tCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAGGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTCTTACCTTTGTGTTGGTAGTGATGCTCTTCCGTCCGGCCCaa    >  2:180018/1‑149 (MQ=255)
                                                                                                                                  tCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCaa    <  1:418015/149‑1 (MQ=255)
                                                                                                                                  tCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGAGAAATTCGCTTGCGAGTGTGACGGTATCCAAGGCTCAACTGGCTAGTCAGCGGATTTATTACATTTCTGGTGGTAGTGATACTATTCCGGCCGGCGCaa    >  2:615581/1‑149 (MQ=255)
                                                                                                                                  tCGCCGTCTCAAAGTGGCGGATGCGCAAAAATCTACGAACAGAACGCAGCGCAATTCGCTTGCCAACGTGGCTTTATCCGTCGCTCACCTGGCTAGTCATCCGCTTTATTACCTTTGTGTTGGAAGTGATGCCATTCCGTCCGCCCCaa    >  2:544207/1‑149 (MQ=255)
                                                                                                                                    gCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACa  >  2:614826/1‑149 (MQ=255)
                                                                                                                                    gCCGTTTCAAAGTTGCGGATGCGCAAAATGCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGAAGTGATGCTATTCCGTCCGGCGCAACa  >  2:349155/1‑149 (MQ=255)
                                                                                                                                             |                                                                                                                                           
TACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACA  >  NC_000913_3_hsa_tpiA/2795255‑2795535

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑