Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 373,115 G→A M65I (ATG→ATA mhpF → acetaldehyde‑CoA dehydrogenase II, NAD‑binding

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA373,1150GA100.0% 125.4 / NA 37M65I (ATG→ATAmhpFacetaldehyde‑CoA dehydrogenase II, NAD‑binding
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (20/17);  total (20/17)

GATCTGATGATTAAAATTTTGCGTCACGGTCAGCATCTGGAGATGGCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATGCCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGATATTCGCTTAATTGACCTGACGCCTGCTGCCATCGGCCCTTACTGCGTGCC  >  NC_000913_3_hsa_tpiA/372969‑373258
                                                                                                                                                  |                                                                                                                                               
gATCTGATGATTAAAATTTTGCGTCACGGTCAGCATCTGGAGATGGCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATAcc                                                                                                                                               >  1:157782/1‑149 (MQ=255)
      atgatTAAAATTTTGCGTCACGGTCAGCATCTGGAGATGGCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAAtt                                                                                                                                         >  1:457475/1‑149 (MQ=255)
         atTAAAATTTTGCGTCACGTTCAGCATCTGGAGCTGGCGGTTATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGc                                                                                                                                      <  1:126345/149‑1 (MQ=255)
                 tttGCGTCACGGTCAGCATCTGGAGATGGCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCg                                                                                                                              <  1:662669/149‑1 (MQ=255)
                     tcgtaCGGTCAGCATCTGGAGATGGCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACAt                                                                                                                          <  1:53522/145‑1 (MQ=255)
                       tCACGGTCAGCATATGGAGATGGCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGATGATCGGACTGATGAACATACCTGCATTTGCTGCTATCGACATTg                                                                                                                        >  2:634141/1‑149 (MQ=255)
                             tCAGCATCTGGAGATGGCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTg                                                                                                                  >  2:572019/1‑149 (MQ=255)
                                       gagaTGGCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGc                                                                                                                                      >  2:571807/1‑119 (MQ=255)
                                       gagaTGGCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGc                                                                                                                                      <  1:571807/119‑1 (MQ=255)
                                           tGGCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCt                                                                                                                                     <  1:136730/116‑1 (MQ=255)
                                           tGGCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCt                                                                                                                                     >  2:136730/1‑116 (MQ=255)
                                            ggCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGCTCGGACGGATGAACACACCTGTATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCg                                                                                                   <  1:671231/149‑1 (MQ=255)
                                                 tGATGGTTGGCATTGATCCTCAGTCTGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGTCATTGTATTTGATGCGACCAGCGCCGGTGCt                                                                                              <  2:583026/149‑1 (MQ=255)
                                                     ggTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGAGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGGTGCGACCAGCGCCGGTGCTCAtg                                                                                          >  1:447772/1‑149 (MQ=255)
                                                             ttGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAAc                                                                                  >  1:40761/1‑149 (MQ=255)
                                                                aTCCTCAGTCCGACGGTCTGACGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGAt                                                                               >  1:8731/1‑149 (MQ=255)
                                                                    tCAGTCCGACGGTCTGGCGCGCGCCAGACGTAGGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGcag                                                                           >  1:405445/1‑147 (MQ=255)
                                                                          cGACGGTCTGGCGCTCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCCACATTGTTTTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTAc                                                                     <  1:335520/149‑1 (MQ=255)
                                                                              ggTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACCCAGTACTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACgcga                                                                 <  1:591358/149‑1 (MQ=255)
                                                                                         cgcCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGa                                                                                                            >  1:478935/1‑95 (MQ=255)
                                                                                         cgcCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGa                                                                                                            <  2:478935/95‑1 (MQ=255)
                                                                                           ccAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGat                                                    >  2:507812/1‑149 (MQ=255)
                                                                                             aGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGatat                                                  >  1:241464/1‑149 (MQ=255)
                                                                                             aGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCACTTTACGCGAAGCGAAACCGGatat                                                  <  1:572019/149‑1 (MQ=255)
                                                                                               aCGTAAGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGATATTc                                                <  1:198890/149‑1 (MQ=255)
                                                                                                 gtgtGGGGGTCGGTACCACCCATGAAGGGGTGATCGGAGAGATGAACATACCGGAATTCGCGGATGTGGACATTAGATTTGATGCGACCAGCTCCGATACTCATGTGAAAAACGGTGCCGCTTTACGCGAAGCGAAACCGGATATTCGc                                              <  2:28933/146‑1 (MQ=255)
                                                                                                    tGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTCATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGATATTCGCTTa                                           <  2:551184/149‑1 (MQ=255)
                                                                                                     gggCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGATATTCGCTTaa                                          >  2:588216/1‑149 (MQ=255)
                                                                                                          tCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGATATTCGCTTAATTGAc                                     <  2:457475/149‑1 (MQ=255)
                                                                                                                         aaGGGGTGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCAGCAATACGCTGAGCGAAACCGGATATTCGCTTAATTGACCTGACGCCTGCTGcc                      >  1:548855/1‑149 (MQ=255)
                                                                                                                          aGGGGTGATAGGACTGGTGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGATATTCGCTTAATTGACCTGAACCCTGCTGCCa                     >  2:654680/1‑149 (MQ=255)
                                                                                                                              gTGGTCGAACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGATATTCGCTTAATTGACCTGACGCCTGCTGCCATCgg                 <  2:629187/149‑1 (MQ=255)
                                                                                                                               tGATCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGACGCTTTACGCGACGCGAACCCGGATATTCGCTTAATTGACCTGACGCCTGCTGCCACCGGc                >  2:308753/1‑149 (MQ=255)
                                                                                                                                  tCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGATATTCGCTTAAtt                                        >  2:277822/1‑122 (MQ=255)
                                                                                                                                  tCGGACTGATGAACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGATATTCGCTTAAtt                                        <  1:277822/122‑1 (MQ=255)
                                                                                                                                        tgatgaACATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTCCGCGAAGCGAAACCGGATATTCGCTTAAGTGACCTGACGCCTGCTGCCATCGGCCCTTACTGc       >  1:669807/1‑149 (MQ=255)
                                                                                                                                             aaCATACCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGATATTCGCTTAATTGACCTGACGCCTGCTGCCATCGGCCCTTACTGCGTGcc  >  1:683991/1‑149 (MQ=255)
                                                                                                                                                  |                                                                                                                                               
GATCTGATGATTAAAATTTTGCGTCACGGTCAGCATCTGGAGATGGCGGTGATGGTTGGCATTGATCCTCAGTCCGACGGTCTGGCGCGCGCCAGACGTATGGGCGTCGCCACCACCCATGAAGGGGTGATCGGACTGATGAACATGCCTGAATTTGCTGATATCGACATTGTATTTGATGCGACCAGCGCCGGTGCTCATGTGAAAAACGATGCCGCTTTACGCGAAGCGAAACCGGATATTCGCTTAATTGACCTGACGCCTGCTGCCATCGGCCCTTACTGCGTGCC  >  NC_000913_3_hsa_tpiA/372969‑373258

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: