Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 4,604,698 C→A A186E (GCA→GAA)  bglJ → bgl operon transcriptional activator

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,604,6980CA100.0% 122.7 / NA 39A186E (GCA→GAA) bglJbgl operon transcriptional activator
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (18/21);  total (18/21)

GACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTACTTC  >  NC_000913_3_hsa_tpiA/4604560‑4604843
                                                                                                                                          |                                                                                                                                                 
gacTGAACAAGCAGTGGTACATTAACCAAAGCCGGACGTTAAGCGCGACGGAGAGAGAAATATTGCGCTTAATGTCGCGTGGCTCCTCAATGACACAAATTGCCGAGCAGCTTAGAACCAATATCAAAACGATCCGTGaacaccactct                                                                                                                                         >  2:436527/1‑142 (MQ=255)
   tGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAt                                                                                                                                      <  1:569965/149‑1 (MQ=255)
   tGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAAAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGAAATATCAAAACGATCCGGGAACATAAATTGAAt                                                                                                                                      >  1:412700/1‑149 (MQ=255)
     aaCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGAAACAAATAGCCTAGCATCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAtgt                                                                                                                                    >  2:444223/1‑149 (MQ=255)
            aGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCg                                                                                                                             >  1:377245/1‑149 (MQ=255)
            aGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCg                                                                                                                             >  1:492213/1‑149 (MQ=255)
                   cATTAACCATAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCACTACTATCGTTGAACATAAATTTAATGTGATGTCGAAACTgg                                                                                                                      <  1:307522/149‑1 (MQ=255)
                   cATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTgg                                                                                                                      >  2:427535/1‑149 (MQ=255)
                    aTTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAATTggg                                                                                                                     >  2:307522/1‑149 (MQ=255)
                        aCCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTc                                                                                                                 >  1:531433/1‑149 (MQ=255)
                         ccAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCa                                                                                                                <  1:191584/149‑1 (MQ=255)
                           aaaGCCGGACGTTAAGCCCGAGGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGAACCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGt                                                                                                              >  2:548678/1‑149 (MQ=255)
                                     gTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTAGGCGTCAGTGCTGACGCAg                                                                                                    >  1:520957/1‑149 (MQ=255)
                                           cccGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGgttgt                                                                                              <  2:492213/149‑1 (MQ=255)
                                           cccGACGGAGAGAGAAATATGGCGCCTTATGTCGCGTGGATACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGgttgt                                                                                              <  2:230616/149‑1 (MQ=255)
                                            ccGACGGTAAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGgttgtt                                                                                             <  2:343265/149‑1 (MQ=255)
                                               aCGGAGAGAGAAATATTGCGCTTTAGGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGa                                                                                          <  1:271484/149‑1 (MQ=255)
                                                cGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAg                                                                                         <  1:427535/149‑1 (MQ=255)
                                                cGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAg                                                                                         <  1:603119/149‑1 (MQ=255)
                                                       agaAATATTGCGCTTTATGTCGCGTGGCTTCTCAATGACACAAAATGCCGAGCAGCTCAAAGGCAATATCGAAACGATCCGTGAACATAAATTTAATGTGATGACGAAACTGGGCGTCAGTTCTGCCGCAGGGTTGTTGGAGGCTGCAg                                                                                  >  1:526090/1‑149 (MQ=255)
                                                            tatTGCGCCTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATAtt                                                                             <  1:168341/149‑1 (MQ=255)
                                                                   cTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTtat                                                                      <  1:240053/149‑1 (MQ=255)
                                                                           cgcgTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCgg                                                              <  2:531433/149‑1 (MQ=255)
                                                                                        aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTta                                                                       <  1:43512/127‑1 (MQ=255)
                                                                                        aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTta                                                                       >  2:43512/1‑127 (MQ=255)
                                                                                        aaTGAAACAAATTGCCCCGACGCGCAAGGGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACac                                                 >  2:450132/1‑148 (MQ=255)
                                                                                            acacAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTaa                                             >  2:265332/1‑149 (MQ=255)
                                                                                             cacaAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAt                                            >  1:369202/1‑149 (MQ=255)
                                                                                              acaAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGCAACAAGTAAtg                                           >  1:56917/1‑149 (MQ=255)
                                                                                               caAATTGCCGACCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAtgt                                          <  1:46909/149‑1 (MQ=255)
                                                                                                aaaCTGCCGAGGAGCTTAAACGCAATATCACAACGTTCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAtgtg                                         <  1:172414/149‑1 (MQ=255)
                                                                                                  aTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGtt                                       <  1:548678/149‑1 (MQ=255)
                                                                                                        gAGCAGCTTAAACGCAATAACAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGGTGTTGGAGGCCGCAGATATTATGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATcc                                 >  2:514731/1‑149 (MQ=255)
                                                                                                                  aaCGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATcc                       <  2:377245/149‑1 (MQ=255)
                                                                                                                  aaCGCAATATCAAAACGACCCGTGAACATAAATTTAATGTGATGTCGAACCTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATcc                       <  2:395775/149‑1 (MQ=255)
                                                                                                                     gCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCa                    <  1:444223/149‑1 (MQ=255)
                                                                                                                           tCAAAACGATCCGTGAACATAAATGTAATGTGATGGCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGGTATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGAATACTTGTTAATCCGCCTGATGc              >  1:169784/1‑149 (MQ=255)
                                                                                                                              aaaCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCgg           <  1:265332/149‑1 (MQ=255)
                                                                                                                                   aTCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTa      <  2:579927/149‑1 (MQ=255)
                                                                                                                                       gTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTATGACGCAGGGTTGTTGGAGGCCGCAGATATTGTGTTATGTATGCGGCATTGCGCAACAAGTAATGTGTTACCTCCCTATTACTCCGCATGATGCCGGGTTTACTTc  >  2:110072/1‑149 (MQ=255)
                                                                                                                                          |                                                                                                                                                 
GACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTACTTC  >  NC_000913_3_hsa_tpiA/4604560‑4604843

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: