Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 1,755,785 G→T V30F (GTT→TTT)  pykF → pyruvate kinase I

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,755,7850GT100.0% 92.0 / NA 30V30F (GTT→TTT) pykFpyruvate kinase I
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base T (19/11);  total (19/11)

TGCGCCCAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAAC  >  NC_000913_3_hsa_tpiA/1755643‑1755926
                                                                                                                                              |                                                                                                                                             
tGCGCCCAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGc                                                                                                                                         >  1:142300/1‑149 (MQ=255)
      cAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGa                                                                                                                                   >  1:445526/1‑149 (MQ=255)
                  ttCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATg                                                                                                                       <  1:39049/149‑1 (MQ=255)
                   tctcCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAACTTGTTTGAATTATGGTACCTAAGTCCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATgg                                                                                                                      <  2:576955/149‑1 (MQ=255)
                    ctcCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGAAACAGCCGACCTAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGt                                                                                                                     <  1:493659/149‑1 (MQ=255)
                       ccATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGGGTCTGAACTTATCTCATGGTGAc                                                                                                                  >  2:604490/1‑149 (MQ=255)
                          tCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCAGACCGAAAACCGAATCTGAAGAGATGGTAGCTACCCTGATGTGCCATCGCATGAACTTTATTCGTCTGAACTTCTCTCATGGTGACGAt                                                                                                               >  1:259976/1‑149 (MQ=255)
                             ttCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCa                                                                                                            >  2:276787/1‑149 (MQ=255)
                                tcAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCGCTCATGGTGACTATGCAGaa                                                                                                         >  1:283914/1‑149 (MQ=255)
                                  aaCTTAAAGACTCCCACTGTCAGGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAaca                                                                                                       >  2:249966/1‑149 (MQ=255)
                                  aaCTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTCGCTAAAATACTGGACGCTGGCATGAACTTTATGCGTCTACACTTCCCTCATGGGGACTATGCAGAaca                                                                                                       >  2:263681/1‑149 (MQ=255)
                                       aaaGACCAAATCTTTCATGAAAAGGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCAGAACTTCTCTCATGGTGACTATGCAGAACACGGTc                                                                                                  >  2:82164/1‑149 (MQ=255)
                                         agactaagactGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAATCGAATCTGATGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAg                                                                                                <  2:512338/149‑1 (MQ=255)
                                         agactaagactGTCAGGAAAAAGGCCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACCCGGTCAg                                                                                                >  2:330953/1‑149 (MQ=255)
                                          gacgaagactGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAgc                                                                                               <  2:88418/149‑1 (MQ=255)
                                                   tGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGa                                                                                      >  1:267368/1‑149 (MQ=255)
                                                       aTGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCt                                                                                  >  1:639712/1‑149 (MQ=255)
                                                         gAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTgc                                                                                <  1:350945/149‑1 (MQ=255)
                                                         gAAAAAGACCAAAATTGTTTGCACCAGCGGACCGAAAACCTAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTgc                                                                                <  1:625688/149‑1 (MQ=255)
                                                           aaaaGACCAAAATTGTTTGCACCATCGGTCCGAAAAACGAATCTGAAGAGTTATTAGCTAATTTGCTAGGCTCTGACTGTTACTTTATGCGACTGACCTTCTCTCTTGGTGTCTATCCCGAACACGGTCCGCGCATTCACAATCTgcgc                                                                              >  2:278535/1‑149 (MQ=255)
                                                                     aaTTGCTTGCACCTTCGGACCGACGACCGAATCTTTAGTGATGTTAGCGAAAATGCTGGCCGCAGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGtgatga                                                                    <  1:426968/149‑1 (MQ=255)
                                                                                       aCCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGGGTGTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGGTGGGCAAAACTGGTAAAAccg                                                  >  1:191600/1‑149 (MQ=255)
                                                                                          gAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACTTGCTGAGCAAAACTGGTAAACccgccc                                               >  2:266876/1‑148 (MQ=255)
                                                                                             aaCCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTa                                            >  1:381868/1‑149 (MQ=255)
                                                                                                     cTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAACCCGCCGCTATCCTGCtt                                    <  2:324973/149‑1 (MQ=255)
                                                                                                                     tAAAATGTTGGACGCTGGCATGAACTTCATGCGTCTGAACTTCTCTCATGGTGAGTATGCAGATCACGTTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCgg                    <  2:84149/149‑1 (MQ=255)
                                                                                                                      aaaaTGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAAcc                                                   >  1:67420/1‑117 (MQ=255)
                                                                                                                      aaaaTGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAAcc                                                   <  2:67420/117‑1 (MQ=255)
                                                                                                                            cTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCg             >  2:486196/1‑149 (MQ=255)
                                                                                                                                       cATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAAc  >  2:110336/1‑149 (MQ=255)
                                                                                                                                              |                                                                                                                                             
TGCGCCCAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAAC  >  NC_000913_3_hsa_tpiA/1755643‑1755926

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: