Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 1,774,576 G→A G263E (GGG→GAG)  ydiB → quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,774,5760GA100.0% 113.9 / NA 36G263E (GGG→GAG) ydiBquinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (12/24);  total (12/24)

ATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTC  >  NC_000913_3_hsa_tpiA/1774433‑1774712
                                                                                                                                               |                                                                                                                                        
aTTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCAGGTTGTTGCGGCGAGAGGCTg                                                                                                                                     >  1:477961/1‑149 (MQ=255)
 ttGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGa                                                                                                                                    >  2:181824/1‑149 (MQ=255)
   ggTTAAGGGTATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAAc                                                                                                                                  <  2:330298/149‑1 (MQ=255)
       aaTGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGtt                                                                                                                              <  1:405840/149‑1 (MQ=255)
          gATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAGCAGTTcac                                                                                                                           >  1:613355/1‑149 (MQ=255)
          gATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTcac                                                                                                                           >  1:307134/1‑149 (MQ=255)
           atatCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTcaca                                                                                                                          <  1:812578/149‑1 (MQ=255)
                aGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATg                                                                                                                     <  1:388745/149‑1 (MQ=255)
                     gTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTg                                                                                                                <  2:653493/149‑1 (MQ=255)
                               ggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAttt                                                                                                      <  2:155333/149‑1 (MQ=255)
                               ggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAttt                                                                                                      <  1:770730/149‑1 (MQ=255)
                                   ttCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCACCAAGCTGGTTGCAAAACGATTGATGGATACGGCATGATGTTGTGGCAAGAGGCTGAACAGTTCACATTCTGGACTTGCCAAGATTTCCct                                                                                                  >  2:775079/1‑149 (MQ=255)
                                     cTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCctct                                                                                                <  1:181824/149‑1 (MQ=255)
                                           aCTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTTGAata                                                                                          >  1:152559/1‑149 (MQ=255)
                                            cTGAATCCCTCTATAACCCCCCTATGACGAAGTTATTGCACCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCCTGTTGTTGTTGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAatat                                                                                         <  1:308235/149‑1 (MQ=255)
                                                           aCCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATg                                                                          <  1:196132/149‑1 (MQ=255)
                                                             ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTCGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATggg                                                                        >  2:715964/1‑149 (MQ=255)
                                                                    tGACGAAGTGATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCggc                                                                 <  2:552708/149‑2 (MQ=255)
                                                                       cGAAGTTATTGCAGCAGGCGCAACCAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTCAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGcc                                                              <  1:251694/149‑1 (MQ=255)
                                                                        gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTTGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt                                                             <  2:152559/149‑1 (MQ=255)
                                                                        aaaGTGATTGCATCAGGCTCAACAAGCTGTTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACATTTCACCTTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt                                                             <  2:330389/148‑1 (MQ=255)
                                                                                        gcgcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGt                                             <  2:2742/149‑1 (MQ=255)
                                                                                          gcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGc                                           >  2:105806/1‑149 (MQ=255)
                                                                                                         cAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACAGTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTCAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTaaaaaa                            <  1:642450/149‑1 (MQ=255)
                                                                                                              tgATTGACGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACGGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGaaa                       <  2:67660/148‑1 (MQ=255)
                                                                                                              agcgtGATGGATAGGGCAGGTTGTTGTGGGAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGaaa                       <  2:450064/145‑1 (MQ=255)
                                                                                                                   gATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                       >  2:28728/1‑112 (MQ=255)
                                                                                                                   gATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                       <  1:28728/112‑1 (MQ=255)
                                                                                                                    aTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTa                 >  2:51712/1‑149 (MQ=255)
                                                                                                                       gATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACt              <  1:51712/149‑1 (MQ=255)
                                                                                                                         aaCGGCATGGTGTTGTGGCAAGAGGCTGAACAGTTAACATTACGGACTGGCAAAGATTTACCTCTGGAATATGTTAAACAGGTCATGGGGTTCGTTTCCTGACAGGCTGACCGCGTGCAAAAAGGGTAAAAAATGAAAACCGTATCTGt            <  2:505835/148‑1 (MQ=255)
                                                                                                                            ggCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTaaa         >  1:446868/1‑149 (MQ=255)
                                                                                                                             gCATGTTGTTTTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTaaaa        <  1:514206/149‑1 (MQ=255)
                                                                                                                                   tgttggGGCAAGAGGATGAAGAGGTCACATTATGGACTGGCAAAATTTTCCCTCTGGAATATGGTAAACAGGTCATGGGGTTCGGTGCTTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtctc  <  2:379975/149‑1 (MQ=255)
                                                                                                                                          gCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAt     >  2:183337/1‑139 (MQ=255)
                                                                                                                                          gCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAt     <  1:183337/139‑1 (MQ=255)
                                                                                                                                               |                                                                                                                                        
ATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTC  >  NC_000913_3_hsa_tpiA/1774433‑1774712

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: