Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 2,679,525 G→T A1074D (GCT→GAT)  yphG ← DUF4380 domain‑containing TPR repeat protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,679,5250GT100.0% 146.5 / NA 47A1074D (GCT→GAT) yphGDUF4380 domain‑containing TPR repeat protein
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base T (23/24);  total (23/24)

TAGGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTT  >  NC_000913_3_hsa_tpiA/2679379‑2679669
                                                                                                                                                   |                                                                                                                                                
tAGGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAAGCATGACGGTGGTGAATAATGCCGCTTTCGGCCAATcc                                                                                                                                                >  2:263301/1‑149 (MQ=255)
   ggTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGa                                                                                                                                             >  2:250784/1‑149 (MQ=255)
    gTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGAt                                                                                                                                            <  1:828693/149‑1 (MQ=255)
            taACAACGGCTTATTCTAATTATTTTGTGATGAACGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATATGGTTAAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc                                                                                                                                    <  2:483207/149‑1 (MQ=255)
                     cTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCGATCCGGATTAATCGCCGTCAATTCa                                                                                                                           <  1:783565/149‑1 (MQ=255)
                       tATTTTAATTATTGTGTGAGTGGCAGCAGCGCG‑TGCGTCTAAAATATGATTGTTAATAGGGTTTCGTGAACGCGGTTAAAAATAAAAGGCAGCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAgc                                                                                                                         <  2:456727/149‑1 (MQ=255)
                        aTTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAgcg                                                                                                                        >  1:830031/1‑149 (MQ=255)
                           cTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGCTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa                                                                                                                     <  1:572623/149‑1 (MQ=255)
                              attattTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGCGCa                                                                                                                  >  1:586381/1‑149 (MQ=255)
                                        gctgaGCGGCAGCGCG‑TGCCGCTCAAGTATTACAGTTCATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAACAATTCCCCGTTTGGCCATTCCGGATTACTCGTCGTGAATTCCGCGCGAGCCGATTccgatt                                                                                                        >  2:672227/3‑144 (MQ=255)
                                         atgaGCGGCAGCGCG‑TGCCGCTCAAATATTACTGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGTCCGAGCGGGCTCatatgg                                                                                                       >  1:8890/1‑147 (MQ=255)
                                         atgaGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTg                                                                                                       <  1:250784/149‑1 (MQ=255)
                                          tgggCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCTCGAGCAGACTAATATTgc                                                                                                      <  2:836837/146‑1 (MQ=255)
                                           gaGCGGCA‑CGCGCTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgcg                                                                                                     >  1:820408/1‑149 (MQ=255)
                                              cGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCTGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCaa                                                                                                  <  1:84615/149‑1 (MQ=255)
                                                     gcg‑TGTCGCGCAAAAATTACAGTTAATATGGTTTAGTCAACGCGGTTAAAAATAAAATGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTcccc                                                                                           <  1:798225/149‑1 (MQ=255)
                                                              cTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcg                                                                                   >  1:477649/1‑149 (MQ=255)
                                                                       tACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCa                                                                          >  1:492080/1‑149 (MQ=255)
                                                                          aGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTACGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCa                                                                       >  2:646195/1‑149 (MQ=255)
                                                                                     tttACTAAACGCGGTTAAAGATAAAAGGCGTCACGGTGGTGAATAATGCCGCTTTCTGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCGTATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCTACCATc                                                            <  2:197275/149‑1 (MQ=255)
                                                                                          tGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCa                                                       >  2:465773/1‑149 (MQ=255)
                                                                                                 ggTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCt                                                >  1:679064/1‑149 (MQ=255)
                                                                                                 ggTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCt                                                <  1:633486/149‑1 (MQ=255)
                                                                                                  gTTAAAAATAAAAGACATCAAGGAGATGAATAATACCGGGTTCTGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAACAGACTCCTATTGCGCAACCTCCCCGAGTCCCGCGGACGCCCGCATCGCCACCATCAGGCATTTTTCtt                                               >  2:298035/1‑149 (MQ=255)
                                                                                                   ttAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa                                                                                                                     <  2:393121/78‑1 (MQ=255)
                                                                                                   ttAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa                                                                                                                     >  1:393121/1‑78 (MQ=255)
                                                                                                   ttAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCttt                                              <  1:465773/149‑1 (MQ=255)
                                                                                                     aaaaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAt                                            <  1:824390/149‑1 (MQ=255)
                                                                                                       aaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgc                                          >  1:470709/1‑149 (MQ=255)
                                                                                                           aaaaGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATgctgct                                      <  1:158661/149‑1 (MQ=255)
                                                                                                              aGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgtt                                   >  2:522750/1‑149 (MQ=255)
                                                                                                                  aTCACGTTGGTGAAGAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTaa                               <  2:416049/149‑1 (MQ=255)
                                                                                                                   tCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTaaa                              >  1:42625/1‑149 (MQ=255)
                                                                                                                       ggtggtGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGc                          <  1:646195/149‑1 (MQ=255)
                                                                                                                       ggtggtGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACATCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGc                          <  2:110144/149‑1 (MQ=255)
                                                                                                                        gtggtgAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGcc                         <  1:263301/149‑1 (MQ=255)
                                                                                                                            tgAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATAc                     >  1:710178/1‑149 (MQ=255)
                                                                                                                             gAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGc                                                                                                                   >  2:306944/1‑54 (MQ=255)
                                                                                                                             gAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGc                                                                                                                   <  1:306944/54‑1 (MQ=255)
                                                                                                                                 aatGCCGCTTTCGGCCAATCCGGATTAATCGACGTCACTTCAGCGCGAGCAGACTCATATTTCGCAAGCTCCACAAATACCGCGGACGCCAACATCGCCACCATCGAGCATTTTTCTTTATGCTGCTGCTGTAAATCACAATACAGCGa                >  2:683579/1‑149 (MQ=255)
                                                                                                                                 aatGCCGCTTTCGGCCAATCCCGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCGCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGa                <  1:83554/149‑1 (MQ=255)
                                                                                                                                    gCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGATGCTGTTTTAAATCGCCATACAGCGacca             >  2:378240/1‑147 (MQ=255)
                                                                                                                                     ccGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGacaac            >  1:147123/1‑149 (MQ=255)
                                                                                                                                      cGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCGACCTCCCCGAGTACCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTCTCCTGCTGTTGTAAATCGCCCAACAGCGacaaca           >  2:474404/1‑149 (MQ=255)
                                                                                                                                          ttCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTc       <  2:820408/149‑1 (MQ=255)
                                                                                                                                              gCCAATCCGGATTAACCGCAGTCAATTCAGCACGCGCATACTCATATTGCGCAAGCTCCCCGAGTCCCGCAGACGCCAGCTTCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAAGAAGTCAGGt   <  2:809041/149‑1 (MQ=255)
                                                                                                                                               ccAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGtt  <  2:477649/149‑1 (MQ=255)
                                                                                                                                                   |                                                                                                                                                
TAGGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTT  >  NC_000913_3_hsa_tpiA/2679379‑2679669

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑