Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 1,774,576 G→A 100% 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% 120.3 / ‑6.7 43G263E (GGG→GAG) ydiBquinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  major base A (20/21);  minor base C (1/0);  total (22/21)
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.

TTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCG  >  NC_000913_3_hsa_tpiA/1774434‑1774713
                                                                                                                                              |                                                                                                                                         
ttGGTTAATGATATCAGTCCGTCACATCCGGGAATTCTGCTCACTGAATGCGTGTATAACCCGCCTATGACGAAGTTATTGCAGCAGGCGCAACAAGCTCGTTGCAAAACGATTGATGGATACGCCCTGTTGTTGTGGCCAGCGGccgc                                                                                                                                     >  2:543312/1‑146 (MQ=255)
      aaTGAGATTAGTGTGTTACATCCGGGACATCTGGTCATGGAATGCGTGTATAACCCGCATATGACGAAGTTATTGTAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGtt                                                                                                                               <  2:376616/149‑1 (MQ=255)
             tatggcTGTTACGTCCGGGACTTTTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTa                                                                                                                        <  1:613867/144‑1 (MQ=255)
               aGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATg                                                                                                                      <  1:614989/149‑1 (MQ=255)
                    gTTCCATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTg                                                                                                                 <  1:614470/149‑1 (MQ=255)
                    gTTACATCCCGGACTTCTGGTCACTGAATTCGTGTATCACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTg                                                                                                                 <  1:86980/149‑1 (MQ=255)
                           ccGGGGCTTCGGGTCACTGAATGCGTTTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGTAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGa                                                                                                          <  1:276482/149‑1 (MQ=255)
                            cGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGAAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATCAGCGCGGGTGTTGTGGCAAGAGGCCGAACAGTTCACATTATCGACTGGCAAAGag                                                                                                         >  1:620308/1‑148 (MQ=255)
                               gACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTc                                                                                                      <  1:138910/149‑1 (MQ=255)
                                    cTGGTCACTGAATTCGGGTATAACCCGCATATGACGAAGTTATTGCAGCGGGCACAACAAGCTGGTTGCAAAACGATTGATCGATAAGGCACGTTGTTGTCGGAAAAAGCTGGACAGTTAACATTTTTGACTTCGAAAGATTTCCctct                                                                                                 >  2:258976/1‑149 (MQ=255)
                                     tGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTg                                                                                                >  2:588122/1‑149 (MQ=255)
                                        tCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGAGTGACAAAAATTTCCCTCTGGaa                                                                                             >  2:181040/1‑149 (MQ=255)
                                        tCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGaa                                                                                             >  1:93734/1‑149 (MQ=255)
                                            tGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCCGCTTTCTGAACTGTTCGCATTATGGACTGGCAAAGATTTCCCTCTGGAATATg                                                                                         >  1:183729/1‑149 (MQ=255)
                                             gcaTGCGTGTATAACCCGCATGTGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTCCACATTATGGACTGGCAAAGATTTACCTCTGGAATCTGt                                                                                        <  2:488811/147‑1 (MQ=255)
                                                  cGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTaaaa                                                                                   >  2:580441/1‑148 (MQ=255)
                                                   gtgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTTTGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAAcg                                                                                  >  1:180319/1‑148 (MQ=255)
                                                   gtgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACa                                                                                  <  1:607095/149‑1 (MQ=255)
                                                   gtgtATAACCCGCATATGACGAAAATATAGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGCTATGCCAAACAGATGATTCAAAAGGCTGAACAGGTCACACTATGGACTGGCAAAAATTACCCACTCGAATATATTAAACa                                                                                  >  2:237003/1‑149 (MQ=255)
                                                    tgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTAGTTGTGGCAAGAGGCTGAACAGTTCACATTATAGACTGGCAAAGATTTCCCACTGGAATAAGATaaaaac                                                                                 >  2:644946/1‑146 (MQ=255)
                                                       ataACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTc                                                                              <  1:213004/149‑1 (MQ=255)
                                                          aCCCACATATGAAGAAGTTATTGGAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATg                                                                           <  2:231121/149‑1 (MQ=255)
                                                           cccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGGTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgg                                                                          >  1:420911/1‑149 (MQ=255)
                                                            ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATggg                                                                         >  1:207776/1‑149 (MQ=255)
                                                                atatGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCGCTCTGGAATATGTTAAACAGGTCATGGGGTTc                                                                     <  1:38750/149‑1 (MQ=255)
                                                                   tGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCCGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGt                                                                  <  1:208420/149‑1 (MQ=255)
                                                                     aCGAAGTTATTGGAGGAGGCGCAACATGCTGGGTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCAAGCAAATATGTTAAACAGGTCATGGGGTTCGGTGc                                                                <  2:472060/149‑1 (MQ=255)
                                                                      cGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCAGAGcc                                                               <  2:336658/149‑1 (MQ=255)
                                                                       gAAGTTATTGCAGCAGGCGCAACAAGCTGTTTGCAAAACGATTGATGGATACGGCATGTTGGTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAGACAGGCCATGGGGTTCGGCGCCt                                                              >  1:557477/1‑149 (MQ=255)
                                                                       gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTAATGGGGTTAGGTGCCt                                                              >  2:102092/1‑149 (MQ=255)
                                                                             aTTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                        <  1:591020/149‑1 (MQ=255)
                                                                             aTTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAgg                                                        >  2:486219/1‑149 (MQ=255)
                                                                                  agaagGCGCAACAGCCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGCGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCCCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGAc                                                   <  2:121357/146‑1 (MQ=255)
                                                                                                   ggTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTa                                  <  1:526277/149‑1 (MQ=255)
                                                                                                          aaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATACGTTAAACAGGTCATGGGGGTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGGAAAAAATg                           >  1:77791/1‑149 (MQ=255)
                                                                                                                       aTACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTg              >  1:253788/1‑149 (MQ=255)
                                                                                                                           ggCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACGGTaaa          >  2:240647/1‑149 (MQ=255)
                                                                                                                                 ttgttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtct    >  1:569510/1‑149 (MQ=255)
                                                                                                                                 tcgttgtAGTAAGAGGCTGAGCAGTTCACATTGTGGACTGGCAAAGATTTCTCTCTGGAATGTGTTATACAGGTCATGGGGGTCGGTGCCTGACAGGCTGATCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtct    <  2:53705/147‑1 (MQ=255)
                                                                                                                                  tgttgtTGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGCCTTACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtctc   <  1:456579/149‑1 (MQ=255)
                                                                                                                                  tgttggGGCAAGAGGCTGAACAGTTCACATTATGGGCTGGCAAAGATTGCCCTCTGGAATATGTTAAACAGGTTATGGGGGTCGGTGCCTGACAGGCTGACCGAGTGCAGAAAGGGTATAATATGAAAACCGTAACTGTAATAGAtctc   <  2:259055/149‑1 (MQ=255)
                                                                                                                                   gttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTTTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGCCTGCCGCCACTGAGAAATGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCg  >  1:215621/1‑149 (MQ=255)
                                                                                                                                   gttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCg  >  1:459086/1‑149 (MQ=255)
                                                                                                                                              |                                                                                                                                         
TTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCG  >  NC_000913_3_hsa_tpiA/1774434‑1774713

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑