Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 4,183,136 G→T 72.8% 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_tpiA4,183,1360GT72.8% 62.7 / 25.8 47R637L (CGT→CTT) rpoBRNA polymerase, beta subunit
Reads supporting (aligned to +/- strand):  ref base G (8/5);  new base T (17/17);  total (25/22)
Fisher's exact test for biased strand distribution p-value = 5.30e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.69e-01

GACTCCGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGAACA  >  NC_000913_3_hsa_tpiA/4182990‑4183279
                                                                                                                                                  |                                                                                                                                               
gaCTGCGTATCGTAAAGTGACCGACGATGTTGTAACTAAGCAGAGGGACTACCTGCATGCTAATGAAAATGGCCACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTCGAAGCCCTGGTAACTTGCCGTa                                                                                                                                               >  2:635208/1‑149 (MQ=255)
  cTCCGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGc                                                                                                                                             >  1:194403/1‑149 (MQ=255)
       taccGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGCACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGCCCTGGTAACTTGCCTTAGCAAAgg                                                                                                                                        <  1:535757/146‑1 (MQ=255)
       tATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAgg                                                                                                                                        <  1:268408/149‑1 (MQ=255)
            tAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAAt                                                                                                                                   >  1:390977/1‑149 (MQ=255)
                    ccGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCAAGCTTg                                                                                                                           >  1:576073/1‑149 (MQ=255)
                    ccGACGGTGTTGTAACTGACGAAATTCACTACCTGGCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACGCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTg                                                                                                                           <  1:471810/149‑1 (MQ=255)
                     cGACGGTGTTTTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGt                                                                                                                          <  1:473821/149‑1 (MQ=255)
                          gtgtTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGAAGGCACTATGGTGTCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGc                                                                                                                     >  2:604535/1‑149 (MQ=255)
                                   cTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGCTGAAAAATGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAg                                                                                                            <  1:255265/149‑1 (MQ=255)
                                    tGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCCACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAACGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCACCTTGTTCAGCCGCGAcaaag                                                                                                           >  2:492603/1‑145 (MQ=255)
                                      aCGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGtt                                                                                                         >  1:116895/1‑149 (MQ=255)
                                      aCGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCTGCGACCAGGtt                                                                                                         <  1:412736/149‑1 (MQ=255)
                                      aCGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGtt                                                                                                         <  1:389390/149‑1 (MQ=255)
                                      aCGAAATTCACTACCTGTCTGCTATCGAAGAACGGTACTTCGTTAGCGGCCATGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGtt                                                                                                         <  2:632369/149‑1 (MQ=255)
                                        gAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGa                                                                                                       <  1:421630/149‑1 (MQ=255)
                                          aaTTCCCTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACt                                                                                                     <  2:598550/149‑1 (MQ=255)
                                          aaTTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACt                                                                                                     <  1:114006/149‑1 (MQ=255)
                                          aaTTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACt                                                                                                     <  1:130009/149‑1 (MQ=255)
                                          aaTTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGAATGAAGAAGGCCACTTCGTAGAAGACCTTGTAACTTGCCTTAGCCAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACt                                                                                                     >  2:235031/1‑149 (MQ=255)
                                                 tACCTGACTGCTAACAAACAAGGCAACCACCGTAGCGCCCAGGCGAACTCCAACTTGGATGAAGAACGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAAGCTAACAACATGGa                                                                                              <  2:171795/149‑1 (MQ=255)
                                                  aCCTGTCTGCTATGGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGAc                                                                                             <  1:487570/149‑1 (MQ=255)
                                                            tATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACGTGGACGTATCCGccc                                                                                   >  1:63323/1‑149 (MQ=255)
                                                                gaagaaGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGAATCCACCcaaac                                                                               >  2:394206/1‑146 (MQ=255)
                                                                 aagaagGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGGAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCcagcag                                                                              >  1:47480/1‑149 (MQ=255)
                                                                   gaagGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGATTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAggt                                                                            <  2:122785/149‑1 (MQ=255)
                                                                       gCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTa                                                                        <  1:622770/149‑1 (MQ=255)
                                                                          aCTAGGTTATGGCCCAGGGGAACTTCAACTTGGATGAAGAAGGCCAGTTCGTAGAAGAGATGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCGGCCGCGACCAGGTTGACTGCATGGATGTATCTATGCAGCTGGTGGTTTcc                                                                     >  2:285350/1‑149 (MQ=255)
                                                                             aCGTTATCGCCCAGGCGAACTCAAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTGTCCACCCAGCAGGTGGTATCCGTc                                                                  >  2:465796/1‑149 (MQ=255)
                                                                                 gaTCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGCCGAAGCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTg                                                              <  2:487344/148‑1 (MQ=255)
                                                                                  aTCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGACGCCACCGGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTCTCCGTCGATGc                                                             >  1:417589/1‑149 (MQ=255)
                                                                                            cGAATTCCAACATGGATGAAGAAGGTCTCTTCGTAGAAGAGCTGGTAACGTGCCTTAGCAAAGGCGAATCCAGCTTGTCCCGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATc                                                   <  2:272568/149‑1 (MQ=255)
                                                                                              aaCTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATccc                                                 >  1:173347/1‑149 (MQ=255)
                                                                                                 tCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGtt                                              >  1:654739/1‑149 (MQ=255)
                                                                                                 tCCAACTTGGATGAAGAAGACCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGGTCAGCCGCGACCAGGTTGACTACATGGACGTATCACCCCAGCAGGTGGTATCCGTCGGTGCGTCCCTAAtactggt                                              >  2:56173/1‑143 (MQ=255)
                                                                                                 cccAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCACTGATCCCGtt                                              >  1:169198/2‑149 (MQ=255)
                                                                                                   cAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCGACCCAGCAGGCGGTATCCGTCGGTGCGTCCCTGATCCCggacc                                            >  2:131137/1‑145 (MQ=255)
                                                                                                       ttGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGa                                        >  1:655625/1‑149 (MQ=255)
                                                                                                       ttGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGa                                        >  1:22868/1‑149 (MQ=255)
                                                                                                             gaagaaGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGa                                  <  1:167778/149‑1 (MQ=255)
                                                                                                              aagaagGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGAt                                 <  2:519923/149‑1 (MQ=255)
                                                                                                               agaagGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGCTCCCGTTCCTGGAACACGATg                                >  2:333664/1‑149 (MQ=255)
                                                                                                                         ttCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCg                      >  1:398187/1‑149 (MQ=255)
                                                                                                                                aagaCCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTg               >  1:605884/1‑149 (MQ=255)
                                                                                                                                   aCCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTGCCTGATCCCGTTCCTGGAACACCATGCCGCCCACCGGTCATTGCTg            >  2:266773/1‑149 (MQ=255)
                                                                                                                                   aCCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATg            <  1:324658/149‑1 (MQ=255)
                                                                                                                                             ttGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGAACa  <  2:561972/149‑1 (MQ=255)
                                                                                                                                                  |                                                                                                                                               
GACTCCGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCGAACA  >  NC_000913_3_hsa_tpiA/4182990‑4183279

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: ‑