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_tpiA4,604,6980CA97.0% 95.0 / NA 33A186E (GCA→GAA) bglJbgl operon transcriptional activator
Reads supporting (aligned to +/- strand):  ref base C (1/0);  new base A (17/15);  total (18/15)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

ACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGG  >  NC_000913_3_hsa_tpiA/4604557‑4604834
                                                                                                                                             |                                                                                                                                        
accgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATaaa                                                                                                                                   >  1:504611/1‑149 (MQ=255)
 ccgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAAt                                                                                                                                  >  2:78127/1‑149 (MQ=255)
             tCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGACCAAAAATTTAATGTGATGt                                                                                                                      >  2:266053/1‑149 (MQ=255)
                gTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCGTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGa                                                                                                                   >  1:326591/1‑149 (MQ=255)
                   gTACATTAACCAAAGACGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTCCTCAATAACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAAc                                                                                                                <  2:219131/149‑1 (MQ=255)
                       aTTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGACACTgcg                                                                                                            >  1:549177/1‑147 (MQ=255)
                        ttAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGc                                                                                                           <  1:194037/149‑1 (MQ=255)
                        ttAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGc                                                                                                           >  2:194037/1‑149 (MQ=255)
                               aaGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGtt                                                                                                    <  1:579627/149‑1 (MQ=255)
                                   cGGGCGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGATACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGCTCCGCGAACATAACTTTAATGTGATGCCGAAACTGGGCGTCAGTTCTGa                                                                                                <  2:446522/149‑1 (MQ=255)
                                     gACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACg                                                                                              >  2:4032/1‑149 (MQ=255)
                                              cccGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGGGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGggtgt                                                                                     >  2:586477/1‑149 (MQ=255)
                                                        cgagaAATATTGCGCTTTATGTCGCGTGGCTAATCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGc                                                                           <  2:145439/148‑1 (MQ=255)
                                                           gaAATATTGCGCTTTATGTCGCGTGGCTCCTGTTTCAGACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCCGGGTTGTTGGAGGCTGCaag                                                                        >  1:145439/1‑147 (MQ=255)
                                                                   gcgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATGTCAAAACGATCCGTGCACAGAGATTTAATGTGATGTCGAAACTGGGCGTCGGTTCTGGCGCAGGGCTGTTGGAGGCCGCAGATCGTCTGt                                                                >  2:60333/1‑149 (MQ=255)
                                                                   gcgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGt                                                                <  1:4032/149‑1 (MQ=255)
                                                                                   ggCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTg                                                <  1:289027/149‑1 (MQ=255)
                                                                                        cTCAATGACACAAATTGCCGGGCAGCTTAAACGCAATATCAAAACGATCAGTGAGCCGTAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGaaa                                           <  1:586477/149‑1 (MQ=255)
                                                                                         tCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTTAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGAACTTCTGTTATGTACTCGGCATTGCGaacc                                          >  2:24075/1‑147 (MQ=255)
                                                                                           aaTGACACAAATTGCCGATCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGc                                               <  1:539378/142‑1 (MQ=255)
                                                                                           aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGc                                               >  2:539378/1‑142 (MQ=255)
                                                                                           aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACaa                                        <  1:78127/149‑1 (MQ=255)
                                                                                                   aaaTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAAGTGGGCTTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTGATGTATGCGGCATTACGAAACAAGTAAtgtg                                >  2:288310/1‑149 (MQ=255)
                                                                                                   aaaTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTc                                                                   <  1:231522/114‑1 (MQ=255)
                                                                                                   aaaTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTc                                                                   >  2:231522/1‑114 (MQ=255)
                                                                                                     aTTGCCGAGCAGCTTAACCGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTTGGCGTCAGTTCTGACGCAGGATTGTCGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGtt                              <  1:255066/149‑1 (MQ=255)
                                                                                                      ttGCCGGGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACACAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTg                             <  2:568503/149‑1 (MQ=255)
                                                                                                            accagcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATccc                       <  1:211123/147‑1 (MQ=255)
                                                                                                             gcagcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCAGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCt                      >  2:476501/1‑149 (MQ=255)
                                                                                                                  ttAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTaa                 >  1:291384/1‑149 (MQ=255)
                                                                                                                  ttAAACGCAATATCAAAACCATCCGTGAACATAACTTTAATGTGACGTCGACACCGGGCGCGACATCGGACGCAGGGTTGTTGGAGGCCGCAGCTATTCTGTTCTGTATGCGGCATTGCGAAACAAAGACTCAGTTGCATCACCATTaa                 >  2:547392/1‑149 (MQ=255)
                                                                                                                                 aaaCGGTCCGTGAACAGAAATTTAATGGGATGTCGGAACTGGGCGTCAGTTCTGGCGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCgg  <  1:451590/149‑1 (MQ=255)
                                                                                                                                 aaaCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCgg  >  1:307735/1‑149 (MQ=255)
                                                                                                                                             |                                                                                                                                        
ACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGG  >  NC_000913_3_hsa_tpiA/4604557‑4604834

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: