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% 66.0 / NA 25G263E (GGG→GAG) ydiBquinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (8/17);  total (8/17)

TTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG  >  NC_000913_3_hsa_tpiA/1774438‑1774719
                                                                                                                                          |                                                                                                                                               
ttAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAg                                                                                                                                       >  2:81551/1‑149 (MQ=255)
       tatCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACAt                                                                                                                                <  1:81551/149‑1 (MQ=255)
                 ttACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCGTGTTGTGTTGGCAAGAGGCTGAACAGTTCACAATCTGGAccgt                                                                                                                      >  2:101685/1‑146 (MQ=255)
                     aTCCGTGATTTCTGGTCACTGAATTCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTTGTTGCAAAACGATTGATTGATACTGCATGTTGTTGTGGCAAGAGGCTTAACAGTTCACATTATGGACTGGCaaa                                                                                                                  <  2:348659/149‑1 (MQ=255)
                         gggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTACTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTAAACAGTTCACATTATGGACTGGCACAGAtt                                                                                                              >  2:295978/1‑149 (MQ=255)
                          ggACTTCCTGTCACTGAACGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATGGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAttt                                                                                                             <  1:92130/149‑1 (MQ=255)
                                     taCTGCATTCGTGTATAACCCGGATATGACGAATTTATTGCAGGAGGCGCAACAGTCTGGTTGCAAAACGATTGCTGGATTCGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTGCCCTCTGGAat                                                                                                  <  2:284144/148‑1 (MQ=255)
                                              cGTGTATAACGCGCATATGGCGGAGTTATTGCAGGAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAACACAACGAATAGTGCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAAc                                                                                         <  1:293478/149‑1 (MQ=255)
                                                                   gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt                                                                    <  2:400085/149‑1 (MQ=255)
                                                                   aaagcgaTTGCAGCAGCTGCAACAAGCTGGTTTCAAAACGATTGATGGATACGGCATGTTGTTGTGCCAAGAGGCAGAACAGTTCACATTATCGACCGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt                                                                    <  2:104811/143‑1 (MQ=255)
                                                                     aGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACTGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGa                                                                  <  2:263921/149‑1 (MQ=255)
                                                                                 agGCGCAACAACCTGGTTGCAAAACGATTGATGGATACGGCATTTGGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACcgc                                                      <  2:242992/149‑1 (MQ=255)
                                                                                          aaGCTTGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGTAAGAGGCTGAACAGGTCACATTATGGACTGGCAAAGAGTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                             <  1:129293/149‑1 (MQ=255)
                                                                                          aaGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTTGGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                             <  1:85716/149‑1 (MQ=255)
                                                                                          aaGCGGGTTGCAAAAGGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                             <  1:87081/149‑1 (MQ=255)
                                                                                            gCTGGTTGTAAAACGATTGATGGATACGGCTTGTTGTTGTGGCAAGAGGCTGAACAGTTCGTATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAgg                                           <  2:123208/149‑1 (MQ=255)
                                                                                             cTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAggg                                          <  1:377272/149‑1 (MQ=255)
                                                                                                  tGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca                                                                                                                                   <  2:225183/55‑1 (MQ=255)
                                                                                                  tGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTca                                                                                                                                   >  1:225183/1‑55 (MQ=255)
                                                                                                     aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCACAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGACTGACAGGCTGCCCGCGTGCAGAAAGGGTAAAAGAt                                  >  2:211876/1‑149 (MQ=255)
                                                                                                       aaCGATTGATGGATCCGGCATGTTGTTGTGGCACGAGGCTGACAAGTTCACATTCTGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGCGGTTCGGTGCCTGACAGGCTGACCGCGTGCCAACAGGGCAAACAATGa                                >  2:278271/1‑149 (MQ=255)
                                                                                                                   aTACGGCATGTTGGTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCGTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACGGGCTGACCGCGTGCCGAAAGAGTGACGAGAGAAGACCGTCACTg                    >  2:153058/1‑149 (MQ=255)
                                                                                                                      cGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGCATAAGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGCAAGGGGAAAAAATGAAAACCGAAACTGTaa                 >  1:367956/1‑149 (MQ=255)
                                                                                                                          aTGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGa             <  1:131588/149‑1 (MQ=255)
                                                                                                                                     gCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATGTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTg  <  1:151090/149‑1 (MQ=255)
                                                                                                                                          |                                                                                                                                               
TTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTG  >  NC_000913_3_hsa_tpiA/1774438‑1774719

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: