Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 4,183,136 G→T R637L (CGT→CTT)  rpoB → RNA polymerase, beta subunit

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,183,1360GT96.9% 96.6 / NA 32R637L (CGT→CTT) rpoBRNA polymerase, beta subunit
Reads supporting (aligned to +/- strand):  ref base G (0/1);  new base T (14/17);  total (14/18)
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

TATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGAACA  >  NC_000913_3_hsa_tpiA/4182997‑4183279
                                                                                                                                           |                                                                                                                                               
tgtCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAgg                                                                                                                                        <  2:148317/147‑1 (MQ=255)
 aTCGTAAAGGGACCGACGGGGTTGTAATTGACGAAATTCACGACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGc                                                                                                                                       <  2:266915/149‑1 (MQ=255)
 aTCGTAAAGGGACAGACGGTGGTGTAAATGAAGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGc                                                                                                                                       <  1:359295/149‑1 (MQ=255)
     tAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAAt                                                                                                                                   >  1:149919/1‑149 (MQ=255)
              cGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGt                                                                                                                          >  2:400783/1‑149 (MQ=255)
                aCGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTc                                                                                                                        <  1:304823/149‑1 (MQ=255)
                   gtgtTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGCATCAAGCTTGTTCAga                                                                                                                     >  1:199076/1‑148 (MQ=255)
                              gACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGt                                                                                                          >  2:19540/1‑149 (MQ=255)
                               aCGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGtt                                                                                                         <  1:392692/149‑1 (MQ=255)
                                cGAAATTCACTACCTGTCTGCTATTGAAGAAGGCAACCACCTTATCTCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGTCCatgtag                                                                                                        <  1:326138/149‑6 (MQ=255)
                                 gAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGa                                                                                                       <  1:102442/149‑1 (MQ=255)
                                        aCTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCaa                                                                                                                                           <  2:160319/106‑1 (MQ=255)
                                        aCTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCaa                                                                                                                                           >  1:160319/1‑106 (MQ=255)
                                          tACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAAGTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGa                                                                                              >  2:279134/1‑149 (MQ=255)
                                           aCCTGTCGGCTAGCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGAc                                                                                             <  1:32520/149‑1 (MQ=255)
                                             cTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACAACATGGACGt                                                                                           >  1:368228/1‑149 (MQ=255)
                                               gccTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGTCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTAt                                                                                         <  2:79908/147‑1 (MQ=255)
                                                tCTGCTATCGAAGAAGGCAACTACGGTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATc                                                                                        <  1:283608/149‑1 (MQ=255)
                                                           agaagGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAgg                                                                             >  1:203604/1‑149 (MQ=255)
                                                                gCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAggtg                                                                           >  1:367836/1‑146 (MQ=255)
                                                                gCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAggtg                                                                           <  2:367836/146‑1 (MQ=255)
                                                                     tACTTTATCGCCCAGGCGAACTCCAACTTGGCTGAGGACTGGAGTTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGt                                                                   <  1:78266/149‑1 (MQ=255)
                                                                       cGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCg                                                                 <  1:19540/149‑1 (MQ=255)
                                                                        gTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAACGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGtgtg                                                                >  1:120037/1‑146 (MQ=255)
                                                                                  aGGCGAACTCCAACTTGGATGAAGGAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTg                                                      <  1:362020/149‑1 (MQ=255)
                                                                                                     tGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTAACCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACg                                   <  1:187465/149‑1 (MQ=255)
                                                                                                      gaagaaGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCCGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACgt                                  <  2:318191/149‑2 (MQ=255)
                                                                                                           agGCTACTGCGAAGAAGCCCTGGGAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGATCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACg                             <  2:278175/149‑1 (MQ=255)
                                                                                                             gCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGcc                           >  1:410297/1‑149 (MQ=255)
                                                                                                              ccACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCa                          >  1:3992/1‑149 (MQ=255)
                                                                                                                         aagaCCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTg               >  1:335789/1‑149 (MQ=255)
                                                                                                                                      ttGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGAACa  >  1:44913/1‑149 (MQ=255)
                                                                                                                                           |                                                                                                                                               
TATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGAACA  >  NC_000913_3_hsa_tpiA/4182997‑4183279

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: ‑