Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 1,755,785 G→T 34.1% 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_tpiA1,755,7850GT34.1% 69.1 / 47.7 50V30F (GTT→TTT) pykFpyruvate kinase I
Reads supporting (aligned to +/- strand):  ref base G (21/12);  new base T (8/9);  total (29/21)
Fisher's exact test for biased strand distribution p-value = 3.66e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.21e-01

TGCGCCCAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGA  >  NC_000913_3_hsa_tpiA/1755643‑1755930
                                                                                                                                              |                                                                                                                                                 
tGCGCCCAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGct                                                                                                                                            >  1:121626/1‑149 (MQ=255)
  cgcCCAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTc                                                                                                                                          >  3:386534/1‑150 (MQ=255)
  cgcCCAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTc                                                                                                                                          >  1:89097/1‑150 (MQ=255)
      cAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGaa                                                                                                                                      <  4:283045/150‑1 (MQ=255)
      cAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGaa                                                                                                                                      <  2:296117/150‑1 (MQ=255)
      cAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGaa                                                                                                                                      <  1:586302/150‑1 (MQ=255)
         aaaGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACtt                                                                                                                                   <  3:176369/150‑1 (MQ=255)
           aGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAGGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTtct                                                                                                                                 <  3:314475/150‑1 (MQ=255)
            gCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTtctc                                                                                                                                >  1:341446/1‑150 (MQ=255)
             cAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTtctct                                                                                                                               <  1:20468/150‑1 (MQ=255)
                      cccATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGAc                                                                                                                      >  1:330966/1‑150 (MQ=255)
                          tCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATg                                                                                                                  <  1:588235/150‑1 (MQ=255)
                              tctcAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGa                                                                                                              >  2:37330/1‑150 (MQ=255)
                                tcAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGACGAGATGCTAGCTAAAATGCTCGACGCTGGCATGAACGTTACGCTTCTGAACTTCTCTCATGGTGACTATGCAGAac                                                                                                            >  4:157703/1‑150 (MQ=255)
                                tcAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAac                                                                                                            >  2:204405/1‑150 (MQ=255)
                                   aCTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACg                                                                                                         >  3:185970/1‑150 (MQ=255)
                                     ttAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGt                                                                                                       >  1:583672/1‑150 (MQ=255)
                                         agactaagactGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAgc                                                                                                   <  1:45578/150‑1 (MQ=255)
                                           actaagactGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAgcgc                                                                                                 >  2:222305/1‑150 (MQ=255)
                                            ctaagactGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCa                                                                                                <  3:156350/150‑1 (MQ=255)
                                             taagactGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCAt                                                                                               >  3:97262/1‑150 (MQ=255)
                                                  ctGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGa                                                                                          <  1:202988/150‑1 (MQ=255)
                                                       aTGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTg                                                                                     >  1:181328/1‑150 (MQ=255)
                                                                 ccAAAATTGTGTGCACCATCGGACCGAGGACCGAATCTGAAGGGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGGATCTGCGCAACGtga                                                                           <  2:470600/150‑1 (MQ=255)
                                                                    aaaTTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGtgatga                                                                        <  2:89097/150‑1 (MQ=255)
                                                                    aaaTTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGtgatga                                                                        <  4:386534/150‑1 (MQ=255)
                                                                    aaaTTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTAAGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCCACGtgatga                                                                        >  2:434035/1‑150 (MQ=255)
                                                                       ttGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCa                                                                     >  1:283707/1‑150 (MQ=255)
                                                                               aCCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTTGt                                                             >  1:538403/1‑150 (MQ=255)
                                                                                   tCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTaaaa                                                         >  3:64417/1‑150 (MQ=255)
                                                                                      gACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAAccg                                                      >  4:35198/1‑150 (MQ=255)
                                                                                           aaaaCCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCt                                                 >  4:354267/1‑150 (MQ=255)
                                                                                             aaCCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTAt                                               >  3:169595/1‑150 (MQ=255)
                                                                                              aCCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTCCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATc                                              <  2:184252/150‑1 (MQ=255)
                                                                                                 gAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTg                                           <  4:185970/150‑1 (MQ=255)
                                                                                                 gAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTg                                           <  2:157171/150‑1 (MQ=255)
                                                                                                  aaTCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGc                                          <  1:37330/150‑1 (MQ=255)
                                                                                                  aaTCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGATTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGGGATGAGCAAAACTGGTAAAACCGCCGCTAACCTGc                                          >  4:387547/1‑150 (MQ=255)
                                                                                                     cTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTg                                       <  4:32026/150‑1 (MQ=255)
                                                                                                      tGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGa                                      >  2:524779/1‑150 (MQ=255)
                                                                                                       gAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGAt                                     <  3:24999/150‑1 (MQ=255)
                                                                                                       gAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGAt                                     >  2:548774/1‑150 (MQ=255)
                                                                                                       gAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGAt                                     >  2:104756/1‑150 (MQ=255)
                                                                                                        aaGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATa                                    >  3:235935/1‑150 (MQ=255)
                                                                                                                       aaaTGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGaaa                     >  4:234690/1‑150 (MQ=255)
                                                                                                                       aaaTGCTGGACGCTGGCATGAACGTTATGCTTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGaaa                     >  2:177093/1‑150 (MQ=255)
                                                                                                                       aaaTGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGaaa                     >  3:14198/1‑150 (MQ=255)
                                                                                                                              ggACGCTGGCATGAACTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCAc              <  1:499914/150‑1 (MQ=255)
                                                                                                                                    tGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGaa        >  3:39250/1‑150 (MQ=255)
                                                                                                                                          aaaCTTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGa  <  2:503757/149‑1 (MQ=255)
                                                                                                                                              |                                                                                                                                                 
TGCGCCCAGAAAGCAAGTTTCTCCCATCCTTCTCAACTTAAAGACTAAGACTGTCATGAAAAAGACCAAAATTGTTTGCACCATCGGACCGAAAACCGAATCTGAAGAGATGTTAGCTAAAATGCTGGACGCTGGCATGAACGTTATGCGTCTGAACTTCTCTCATGGTGACTATGCAGAACACGGTCAGCGCATTCAGAATCTGCGCAACGTGATGAGCAAAACTGGTAAAACCGCCGCTATCCTGCTTGATACCAAAGGTCCGGAAATCCGCACCATGAAACTGGA  >  NC_000913_3_hsa_tpiA/1755643‑1755930

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑