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% 150.9 / ‑6.7 50G263E (GGG→GAG) ydiBquinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  major base A (26/23);  minor base C (1/0);  total (27/23)
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.

ATCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGT  >  NC_000913_3_hsa_tpiA/1774430‑1774721
                                                                                                                                                  |                                                                                                                                                 
atCATGGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAgagg                                                                                                                                                 <  2:315349/149‑1 (MQ=255)
    ttGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAACCGCAACAAGCAGGTTGCAAAAACATTGATGGATACGGCATGTTGTTGGGGCAAGAGGCTGa                                                                                                                                             >  2:582792/1‑149 (MQ=255)
     tGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACCAGCTCGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGaa                                                                                                                                            <  1:582792/149‑1 (MQ=255)
     tGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGaa                                                                                                                                            <  1:211411/149‑1 (MQ=255)
       gTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACa                                                                                                                                          <  2:184818/149‑1 (MQ=255)
           aTGATATCAGTTTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTc                                                                                                                                      <  2:110729/149‑1 (MQ=255)
                atCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGGGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCCAGAGGCTGAACAGTTCACAta                                                                                                                                 >  2:738884/1‑148 (MQ=255)
                  cAGTCTGTTACATCCGGGACTTTTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATAAGGCATGTTGTTGTGGCACGAGGCTGAACAGTTCACATTAt                                                                                                                               >  1:755068/1‑149 (MQ=255)
                  cAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGCTTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTAt                                                                                                                               >  1:755048/1‑149 (MQ=255)
                     tCTGTTACATCCGTGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGACGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGa                                                                                                                            <  1:69392/149‑1 (MQ=255)
                     tCTATTACATCCGGGACTTCTAGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTAATGCAACCGGCGCAACAAGCTGGTTGCAAACCGCATGCTGGATAAAGCATGTAGATGTGGAAAGAGGGTTAACCGTTCACAtggtgaa                                                                                                                            >  2:371213/1‑143 (MQ=255)
                      cTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGAc                                                                                                                           <  2:94987/149‑1 (MQ=255)
                              tCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAg                                                                                                                   >  1:296791/1‑149 (MQ=255)
                                  ggACTTCTGGTCCCTGAATGCGTGTATAACCCGCCCATGACGAAGTTATTGCAGCAGGCGCCACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAACGGCTGAACACTACACATTATGGACTGGCAAAGAatt                                                                                                               >  2:542168/1‑149 (MQ=255)
                                  ggACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGAttt                                                                                                               <  2:677192/149‑1 (MQ=255)
                                   gACTTGGGGTGACGGAAGGCGTGCAGAACCCGCATATGACGAAGTTATTGCAGCAGGCGGAACAAGCTGTTTGCAAAACGATTTATGGATATGGCATTTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTc                                                                                                              <  2:232546/149‑1 (MQ=255)
                                   gACTTCTGGTCACTGAATGCGTGGATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTc                                                                                                              <  1:252146/149‑1 (MQ=255)
                                    aCTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTcc                                                                                                             >  1:572359/1‑149 (MQ=255)
                                         tGGTCTCTGAAGGCGTGTACAACCTGGATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTg                                                                                                        <  1:609915/149‑1 (MQ=255)
                                         tGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTg                                                                                                        <  1:452139/149‑1 (MQ=255)
                                                tGAATGCGTGTATAACCCGCATATGACGAAGTTATGGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATg                                                                                                 >  2:622359/1‑149 (MQ=255)
                                                     gCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTaaa                                                                                            <  1:491001/149‑1 (MQ=255)
                                                      cgcgtAGAACCCGCCTATGACGAAGTTATTGCTGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGGTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAAc                                                                                           <  2:242334/146‑1 (MQ=255)
                                                        tgtAGAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg                                                                                         <  1:211270/149‑1 (MQ=255)
                                                        ggtATAACCAGCATATGACGAAGTTATTGCAGCAGGCGCAACATGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg                                                                                         <  2:607705/148‑1 (MQ=255)
                                                                ccGCATATAACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCCTGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATGAGTTAAACATGTCCTggg                                                                                 >  2:559524/1‑149 (MQ=255)
                                                                         aCGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGc                                                                        <  1:91095/149‑1 (MQ=255)
                                                                              gTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATCTGTTTAACACGTGATGGGGTTCGGTGCCTGAc                                                                   >  1:635512/1‑149 (MQ=255)
                                                                              gTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTggc                                                                   >  1:472077/1‑147 (MQ=255)
                                                                               ttATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACa                                                                  <  1:785328/149‑1 (MQ=255)
                                                                               ttAATGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACa                                                                  <  1:424568/149‑1 (MQ=255)
                                                                                 aTTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGACTggaagg                                                                >  2:454582/1‑144 (MQ=255)
                                                                                       gcagGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGACTAACGTCATTGCAAAAGCCGGAACGGTTGACATTATGGACTGGCAAAGATTTCCTTCTGGAATGTGTTAAACAGGTCATGGGGTTCGGTGCATGACAgacagaga                                                          >  1:710800/1‑142 (MQ=255)
                                                                                            cgcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTg                                                     >  1:790084/1‑149 (MQ=255)
                                                                                             gcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCAAATTATGGACTGGCAAAGATTTCCCTCTGGAATCTGTTAAACAGGTCATGGGGTTCGGTGCCTGCCAAGCGGACCGCATGc                                                    >  2:628371/1‑149 (MQ=255)
                                                                                             gcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCAAGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATTGACTGGCAAAGATTTCCCTCTGGAATGCGTTAAACAGGTAATGGGGTTCGGTCCCTCACAGGACGAACGCGTGc                                                    >  2:48969/1‑149 (MQ=255)
                                                                                                acaaGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGa                                                 >  1:827908/1‑149 (MQ=255)
                                                                                                  aaGGTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                               <  1:265141/149‑1 (MQ=255)
                                                                                                             gaaaCGTTGGAGGGCTGCGGCAGGTTGTGGGGGCAGGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGGATATGTTAAACAGGACAGGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAAt                                    <  2:148260/148‑1 (MQ=255)
                                                                                                             aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAAt                                    <  2:786235/149‑1 (MQ=255)
                                                                                                             aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAAt                                    >  2:74725/1‑149 (MQ=255)
                                                                                                               aaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACGGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCGGAAAGGGTAAAAAATGa                                  >  1:536870/1‑149 (MQ=255)
                                                                                                                     tGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTCCGGTGCCTGACAGGCTGACCGCGCGCAGAAAGGGTAAAAAATGAAAACCg                            <  1:688220/149‑1 (MQ=255)
                                                                                                                        tGGATACGGCATGTTGTTGTGGCAAGAGGATGAACAGTGCACATTATGGAGTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGACATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACAGTaa                         >  1:711067/1‑149 (MQ=255)
                                                                                                                                gCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCCTGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCCGAAAGGGTAAAAAATGAAAACCGTAACTGTaaag                 >  2:250477/1‑148 (MQ=255)
                                                                                                                                 cATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAg                <  1:544867/149‑1 (MQ=255)
                                                                                                                                        ttgtGGCAAGAGGCTGAGCAGTGCAAATGATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACTGATCATGGGGTTCGGTGCCTGACAGCCTGACCGCGTGCAGAAAGGGTAAAAAATGAAGACCGTAAATGTAAAAAGTCTCGt         >  2:689031/1‑149 (MQ=255)
                                                                                                                                        ttgtGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGCTCTCGt         >  1:781909/1‑149 (MQ=255)
                                                                                                                                            ggCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCAtt     >  1:553560/1‑149 (MQ=255)
                                                                                                                                              cAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTgg   >  1:820897/1‑149 (MQ=255)
                                                                                                                                               aaGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGt  >  1:715699/1‑149 (MQ=255)
                                                                                                                                                  |                                                                                                                                                 
ATCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGGT  >  NC_000913_3_hsa_tpiA/1774430‑1774721

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: ‑