Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 4,183,418 G→T R731L (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_tpiA4,183,4180GT98.0% 161.7 / NA 51R731L (CGT→CTT) rpoBRNA polymerase, beta subunit
Reads supporting (aligned to +/- strand):  ref base G (0/1);  new base T (26/24);  total (26/25)
Fisher's exact test for biased strand distribution p-value = 4.90e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

TGCGAACATGCAACGTCAGGCCGTTCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCGTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAACACCTGTATCAACCAGATGCCGTGTGTGTCTCTGGGTGAACCGGTTGAACG  >  NC_000913_3_hsa_tpiA/4183272‑4183562
                                                                                                                                                  |                                                                                                                                                
ggagAACATGCAGCGTCAGGCAGTTTCGACGCTGCGCGCTGATGCGCCGGTGTTGTGTCCTGGTATGGAGCGGGCTGTTGGCGTTGACTCCGGTGTAACTGCGGCAGCTAGACGTTGTGGTGTCGTCCAGTACGTGGATGCTTCCCGTAt                                                                                                                                               <  2:288693/147‑1 (MQ=255)
 gCGAACATGCAACGTCAGGCCGTTCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATc                                                                                                                                              <  1:44847/150‑1 (MQ=255)
 gCGAACATGCAACGTCAGGCCGTTCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCCTTGACTTCGGTGTATCTGCAGTATCTAAACGTGTTGGTGTCGTTCAGTACGTGGATGCTTCCCTTagc                                                                                                                                              <  1:456396/150‑3 (MQ=255)
      cATGCAACGTCAGGCCGTTCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTAt                                                                                                                                         <  1:144412/150‑1 (MQ=255)
       aTGCAACGTCAGGCCGTTCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATc                                                                                                                                        >  2:134355/1‑150 (MQ=255)
          cAACGTCAGGCCGTTCCGGCTCTGGGCGCTGATAAGCCGATGGTTGGTACTGGTATGGAACGTCCTGTTGCCGTTGACTCCGGTGTAAGTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATTaaa                                                                                                                                     <  2:620276/150‑1 (MQ=255)
           aaCGTCAGGCCGTTCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTCTCGTTATCAAAg                                                                                                                                    >  1:369891/1‑150 (MQ=255)
           aaCGTCAGGCCGTTCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAg                                                                                                                                    >  1:451705/1‑150 (MQ=255)
           aaCGTCAGGCCGTTCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAg                                                                                                                                    >  1:369855/1‑150 (MQ=255)
           aaCGTCAGGCCGTTCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTGATCAAAg                                                                                                                                    >  1:262063/1‑150 (MQ=255)
                     cGTTCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCACAGTTAACGAAGa                                                                                                                          <  2:649873/150‑1 (MQ=255)
                     cGTTCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGa                                                                                                                          <  2:442969/150‑1 (MQ=255)
                        tCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACga                                                                                                                       <  1:134355/150‑1 (MQ=255)
                                      gtGATAAGCCGCGGGTTGGTACTGGTATGGAACGGGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTg                                                                                                         <  2:381242/149‑1 (MQ=255)
                                           aaGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCa                                                                                                    >  1:596599/1‑150 (MQ=255)
                                            ggCCGCTGGTTGGTACTGGTAGGGAACGTGGTGGTGTCGGTGTCTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAg                                                                                                   <  1:393135/149‑1 (MQ=255)
                                            aGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAg                                                                                                   <  1:588748/150‑1 (MQ=255)
                                            aGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAg                                                                                                   <  1:565329/150‑1 (MQ=255)
                                                 cTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTCTCGTTATCCAAGTTAACGAAGACGAGATGTGTCCGGGGGAAGCAGGTATc                                                                                              >  1:93610/1‑150 (MQ=255)
                                                    gttggtACTGGTATGTAACGTGATGTTGACGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTCTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGGTAACGAAGACGAGATCTATCCGGGTGAAGCAGGTATCGAc                                                                                           >  2:572503/1‑150 (MQ=255)
                                                      tggtACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACAt                                                                                         <  2:596599/150‑1 (MQ=255)
                                                       ggtACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATc                                                                                        >  1:402730/1‑150 (MQ=255)
                                                          aCTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGATGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTAc                                                                                     >  2:114765/1‑150 (MQ=255)
                                                            tGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCTGGTGAAACAGGTATCGACATCTACaa                                                                                   <  2:589190/150‑1 (MQ=255)
                                                                 tGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGa                                                                              >  1:56214/1‑150 (MQ=255)
                                                                   gAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATATACAACCTGAcc                                                                            >  2:74536/1‑150 (MQ=255)
                                                                      cGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGGTGCTTCCCTTATCGTTATCAAAGTTAAAGAAGACGAGATGTATCCGGGTGAAGCGGGTATCGACATCTACAACCTCACCaaa                                                                         >  1:22584/1‑150 (MQ=255)
                                                                           tGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATacac                                                                    <  2:369855/150‑1 (MQ=255)
                                                                           tGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGGTAACGAAGACGAGATGTATCGGGGTGAAGCAGGTATCGACATCTCCAACCGGACCaataacgc                                                                    >  1:377880/1‑144 (MQ=255)
                                                                           ggTTGCCGTTGACTCCGGGGTGACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATacac                                                                    <  2:369891/149‑1 (MQ=255)
                                                                                        tCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAGGTTAACGAAGACGAGATGTATCCGGTTGAAGCAGGTATCGACATCTACAACCTGAGCAAATAAATCCGTTCTAATCaa                                                       >  1:396816/1‑149 (MQ=255)
                                                                                        tCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAACGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAg                                                       >  1:273868/1‑150 (MQ=255)
                                                                                            gtgtAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGATATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCacgaac                                                   >  2:90624/1‑145 (MQ=255)
                                                                                            gtgtAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAaca                                                   >  2:340192/1‑150 (MQ=255)
                                                                                               tAACTGCGGTAGTGAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAACACCt                                                <  2:48721/150‑1 (MQ=255)
                                                                                                     cGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAACACCTGTATCa                                          >  1:626875/1‑150 (MQ=255)
                                                                                                       gTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATc                                                                                        <  1:607932/102‑1 (MQ=255)
                                                                                                       gTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATc                                                                                        >  2:607932/1‑102 (MQ=255)
                                                                                                        tAGCTAAACGTGTTGTTGTCGATCAGTACGTGGATGCTTCCCTTATCGTTATCAAGGTTAACGAAGACGAGATGTATCCGGGCGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAACACCTGTATCAAcc                                       <  2:396816/150‑1 (MQ=255)
                                                                                                         aGCTAAGTGTGGTGATGGCGTTGAGGACGTGGATGCTTCTCTTGTCTTTATCAGAGTTAAGGAAGACGAGATGTATCCGGGTGAAGCAGGTGTCGACATCTACAACGTGACCAAATAGTCCCGTTCTAACCAGAATACCTGTATCAACCa                                      <  2:219777/150‑1 (MQ=255)
                                                                                                              aaCGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAACACCTGTATCAACCAGATGc                                 <  2:687359/150‑1 (MQ=255)
                                                                                                                 gtggtggtgTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAACACCTGTATCAACCAGATGCCgt                              >  1:34461/1‑150 (MQ=255)
                                                                                                                   ggtggtgTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAACACCTGTATCAACCAGATGCCgtgt                            <  1:320276/150‑1 (MQ=255)
                                                                                                                     tggtgTCGTTCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAACACCTGTATCAACCAGATGCCgtgtgt                          <  1:367554/150‑1 (MQ=255)
                                                                                                                             ttCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACgaga                                                                                                                     <  2:304389/51‑1 (MQ=255)
                                                                                                                             ttCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACgaga                                                                                                                     >  1:304389/1‑51 (MQ=255)
                                                                                                                              tCAGTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAACACCTGTATCAACCAGATGCCGTGTGTGTCTCTggg                 <  1:340192/150‑1 (MQ=255)
                                                                                                                                 gTACGTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAACACCTGTATCAACCAGATGCCGTGTGTGTCTCTGGGTGa              >  2:10660/1‑150 (MQ=255)
                                                                                                                                     gTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAACACCTGTATCAACCAGATGCCGTGTGTGTCTCTGGGTGAACCg          >  1:490810/1‑150 (MQ=255)
                                                                                                                                     gTGGATGCTTCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGATATCGACATCTACAACCTGACCAAAAAATGACTTCCTAACCAGAACACCTGTATCAACCAGATGCCGTGTGTTTCTCTGGGCGAACCg          >  1:338267/1‑150 (MQ=255)
                                                                                                                                             ttCCCTTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAGTACACCCGTTCTAACCACAACACCTGTATCAACCAGATGCCGTGTGTGTCTCTGGGTGAACCGGTTGAAca  >  1:644375/1‑149 (MQ=255)
                                                                                                                                                  |                                                                                                                                                
TGCGAACATGCAACGTCAGGCCGTTCCGACTCTGCGCGCTGATAAGCCGCTGGTTGGTACTGGTATGGAACGTGCTGTTGCCGTTGACTCCGGTGTAACTGCGGTAGCTAAACGTGGTGGTGTCGTTCAGTACGTGGATGCTTCCCGTATCGTTATCAAAGTTAACGAAGACGAGATGTATCCGGGTGAAGCAGGTATCGACATCTACAACCTGACCAAATACACCCGTTCTAACCAGAACACCTGTATCAACCAGATGCCGTGTGTGTCTCTGGGTGAACCGGTTGAACG  >  NC_000913_3_hsa_tpiA/4183272‑4183562

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: ‑