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_tpiA1,774,5760GA82.9% 76.0 / 7.0 39G263E (GGG→GAG) ydiBquinate/shikimate 5‑dehydrogenase, NAD(P)‑binding
Reads supporting (aligned to +/- strand):  ref base G (3/3);  new base A (11/18);  total (16/23)
Fisher's exact test for biased strand distribution p-value = 6.64e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.79e-01

ATCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGG  >  NC_000913_3_hsa_tpiA/1774430‑1774720
                                                                                                                                                  |                                                                                                                                                
atCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAgagg                                                                                                                                                <  2:627773/149‑1 (MQ=255)
    ttGGTTAATGATATCAGTCTGTTACCTCCGGGACGTCTGGTCAGTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGACTGCAAAAGGATTGATGGATACGGCATGTCGTTGTGGCAGGAGGCTGa                                                                                                                                            >  1:576019/1‑149 (MQ=255)
                     ccTGTTCCACCCGGGACTTCTGGTCACTGAATCCGCGTAGCGCCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGa                                                                                                                           <  1:588549/148‑1 (MQ=255)
                      cTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGACACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGAc                                                                                                                          <  2:510326/149‑1 (MQ=255)
                          tACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGc                                                                                                                      >  1:60326/1‑149 (MQ=255)
                               ccGGGACTGCTGGTCACTGAATGCGTGTAGAGCCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGa                                                                                                                 <  2:499403/149‑1 (MQ=255)
                                      ttCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTAACATTATGGACTGGCAAAGATTTccca                                                                                                          >  2:583974/1‑148 (MQ=255)
                                       tttGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCAGGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCctc                                                                                                         <  2:704425/147‑1 (MQ=255)
                                         tGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTg                                                                                                       <  1:631295/149‑1 (MQ=255)
                                            tCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGaa                                                                                                    <  1:417503/149‑1 (MQ=255)
                                            tCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGaa                                                                                                    <  2:60326/149‑1 (MQ=255)
                                             aaCTGAATGCGTGTATAAACCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTTGTTGCAAAACGATTGGTGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACAGCAAACGGTTTTCCTCTGGAat                                                                                                   <  2:658308/148‑1 (MQ=255)
                                               gtGAATGCGTGTATAACCCGGATATGACGAAGTTAGTGCAGTAGGCGCAACAAGGTGGTGGGAAAACGATTGATGGATACGGCATGTTGGTGTGTCAAGAGGCTGAACAGTTCACATTATGGACGGGCAAAGATTTCCCTCTGGAatat                                                                                                 <  2:683246/148‑1 (MQ=255)
                                                        tgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg                                                                                        >  1:74068/1‑149 (MQ=255)
                                                          tataACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGaa                                                                                                                                           <  1:189488/96‑1 (MQ=255)
                                                          tataACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGaa                                                                                                                                           >  2:189488/1‑96 (MQ=255)
                                                               cccGCATATGACGACGGTATTGCAGCAGGCGCAACAAGCGGGTTGCAAAACGATTGAGGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgg                                                                                 <  2:747543/149‑1 (MQ=255)
                                                               cccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgg                                                                                 <  1:603643/149‑1 (MQ=255)
                                                                ccGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAACCGGATCCACGTTACGGCAGGTGGTTGTGGGAGGCGGGAGAAAGCAACTGGGTAGACACGGGCAAAGAGTTCCCTCTGGAAGATGTGAAACAGGTCAgggg                                                                                >  2:539117/1‑149 (MQ=255)
                                                                   cggatGACGAAGTTATGGCATGGGGGGGAACAAGGTGGTGGCAAAATGATTGATGGGTACGGCATGTTGTTGTGGCAAGAGGCTGAACGGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGtt                                                                             <  2:611357/146‑1 (MQ=255)
                                                                       tGACCAAATTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGCGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGt                                                                         <  2:332135/149‑1 (MQ=255)
                                                                           gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGaa                                                                                                                                           >  2:382604/1‑79 (MQ=255)
                                                                           gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGaa                                                                                                                                           <  1:382604/79‑1 (MQ=255)
                                                                           gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCAAGTTGTTGTGGCAAGCGGATGAACAGTTCACATTATGGACTGGCAAAGAATTCCCACTGGGCAATGTTAACCCGGTCATGGAGTGCGGTGTCt                                                                     >  2:608436/1‑149 (MQ=255)
                                                                           gAAGGTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt                                                                     <  2:744044/149‑1 (MQ=255)
                                                                                       gcagGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGAcc                                                         >  2:644105/1‑149 (MQ=255)
                                                                                             gcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATCGGGTTCGGTGCCTGACAGGCTGACCGCGTGc                                                   >  2:368554/1‑149 (MQ=255)
                                                                                                   atcTGGTTGCAAAACGATTGGTTGATACGGCATGTCGTTCGGGCAAGAGGTGGAACAGTCCTCACTATGGACTGGCAAAGATTTCCCTCTGTAAGATGTTAAACAGGTCAGGGGGTTCGGTGCCTGACAGGCTGACCGCGGGCAGAAAg                                             <  2:652048/147‑1 (MQ=255)
                                                                                                   atcTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAg                                             <  1:323992/147‑1 (MQ=255)
                                                                                                   aGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATTTTTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAg                                             <  1:146445/149‑1 (MQ=255)
                                                                                                    gCTGGTTGCAAAACGATTGATGGATACGGCATGGTGGTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAgg                                            >  2:236310/1‑149 (MQ=255)
                                                                                                             aaaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGTCCGCGTGCAGAAAGGGTAAAAAAt                                   >  2:4674/1‑149 (MQ=255)
                                                                                                                  gATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGaaaa                              >  1:3638/1‑149 (MQ=255)
                                                                                                                               ggtaTGTTGTTGTGGGAAGGGGATGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTCCCCGCGTGCAGAAAGGGTAACAAATGAAAACCGTAACTGTaaa                 <  2:479989/146‑1 (MQ=255)
                                                                                                                                gCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                              <  1:112229/119‑1 (MQ=255)
                                                                                                                                gCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGaaa                                              >  2:112229/1‑119 (MQ=255)
                                                                                                                                 cATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAg               >  1:268631/1‑149 (MQ=255)
                                                                                                                                     cttttgtGGCAAGTGGCTGAACAGTTCACATTATGGACTGGAAAAGATTCACCTATTGAATATGTTAAACAGGTAATGGGGTTCGGCGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACCGTAAAGGAtct           <  2:240303/146‑1 (MQ=255)
                                                                                                                                             gCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTg   >  1:603939/1‑149 (MQ=255)
                                                                                                                                              cAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCAGTGCCTGACAGGCTCACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTgg  <  2:692551/149‑1 (MQ=255)
                                                                                                                                                  |                                                                                                                                                
ATCATTGGTTAATGATATCAGTCTGTTACATCCGGGACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGG  >  NC_000913_3_hsa_tpiA/1774430‑1774720

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: ‑