Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_tpiA 2,948,287 T→C 9.8% I242V (ATC→GTC)  amiC ← N‑acetylmuramoyl‑L‑alanine amidase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,948,2870TC 9.8% 111.9 / 3.8 49I242V (ATC→GTC) amiCN‑acetylmuramoyl‑L‑alanine amidase
Reads supporting (aligned to +/- strand):  ref base T (24/20);  new base C (3/2);  total (27/22)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.82e-01

GCAGTACTGGTTGCACCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGCCACCGTGGCCAGGGTC  >  NC_000913_3_hsa_tpiA/2948139‑2948434
                                                                                                                                                    |                                                                                                                                                   
gCAGTACTGGTTGCACCTTTGGTGGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCATGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGAt                                                                                                                                                     <  2:246970/149‑1 (MQ=255)
 cAGTACTGGTTGCACCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATg                                                                                                                                                    >  1:476451/1‑149 (MQ=255)
         gTTGCACCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATCGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCAtt                                                                                                                                            >  2:172520/1‑149 (MQ=255)
            gCACCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCCCGCTGTTTCTGGGCTTTTGCTACGCGCCCTTGCAATGGAATGAAGATGTCTTCATTgcg                                                                                                                                         >  1:381973/1‑149 (MQ=255)
             cACCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTgcgc                                                                                                                                        <  1:524571/149‑1 (MQ=255)
              aCCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGCATGAAGATGTCTTCATTTcgcg                                                                                                                                       >  2:324352/1‑149 (MQ=255)
               ccTTTGGTGGAGAGGTCAAACACCGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGt                                                                                                                                      <  2:374623/149‑1 (MQ=255)
                atttGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCAGAGGACTGGTAAAGGGGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTTTTTGTGGGCTTTTGCTCCGCCTACTTCCAATGGCATGCAGATGTCGTCATTGCCCGTc                                                                                                                                     >  2:304297/2‑149 (MQ=255)
                   ttgtggagaGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATg                                                                                                                                  <  1:477815/144‑1 (MQ=255)
                      ttGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGACATCTTCAtt                                                                                                                                            >  1:446125/1‑136 (MQ=255)
                      ttGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGACATCTTCAtt                                                                                                                                            <  2:446125/136‑1 (MQ=255)
                        gagaGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTCCAATGGAATGAAGACGTCTTCATTGCGCGTCATGTacac                                                                                                                             >  2:126788/1‑149 (MQ=255)
                           agCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCtt                                                                                                                          <  1:369629/149‑1 (MQ=255)
                                    acaGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAAATGTCTTCATTGCGCGTCATGTACCACTTCATATTTcc                                                                                                                 >  2:52940/1‑149 (MQ=255)
                                      agagGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATGGCGCGTCATGTCCCCCTTCATATTGCCct                                                                                                               >  1:165420/1‑149 (MQ=255)
                                                  cGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCa                                                                                                   <  1:420979/149‑1 (MQ=255)
                                                  cGGCTGACGACTGGGAAAGGCGTCGGCATGGATAGAGGCAAACCGGTCAGCACGCTGTTTCTTGGCTTTTGCTACGCGCACTTGCAATTGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCa                                                                                                   <  2:513609/149‑1 (MQ=255)
                                                    gCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCaga                                                                                                 <  1:199497/149‑1 (MQ=255)
                                                       gactacGGGTAAAGGTGTCGGCTGTGATAGTTACGATCAGGTCAGCACTCTGTTTCTGGTATTTTGCTACGCGCACTTGCAATTGAATGTAGATGTCTTCATTGCGCGCCATGTCCACCTGCAGATTGCCCTCTTTCTCCATCagagtg                                                                                              <  2:205505/149‑3 (MQ=255)
                                                        acgatTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAgc                                                                                             <  2:218107/149‑1 (MQ=255)
                                                                 aaaGGCGTCGGGATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGc                                                                                    <  2:371298/149‑1 (MQ=255)
                                                                  aaGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGCGAGCGCAAACGGCg                                                                                   >  2:651438/1‑149 (MQ=255)
                                                                   aGGTGTCTGCCTAGATATCGACAAACAGGTTAGCACGCTGTTTCTCGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGa                                                                                  <  1:179102/149‑1 (MQ=255)
                                                                        tCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACATTCATATTGCCCTCATTCTCGAGCAGAGAGCGCAACCGACGAgatct                                                                             >  2:28505/1‑145 (MQ=255)
                                                                             aTGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTCCTCGCGCAGAGAGCGCAAACGGCGACCTATTTGCa                                                                        >  2:530016/1‑149 (MQ=255)
                                                                             aTGGAAAGAGACAAACAGGTCAGAACGCTGTATCTGGGCTTTTGCTACGCGCAGTTGCAATGGAATTAAGATGTCTTCATTACGCGTCATGTACACCTTCATATTGCCCTCTTTATCGATCAGCAAGCGCAAACGGCGAGCTATTTGCa                                                                        >  2:487565/1‑149 (MQ=255)
                                                                                  tAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATAcc                                                                   >  1:427861/1‑149 (MQ=255)
                                                                                       aCAAACAGGTCAGTACGCCGGTTCTGGGGTTTCGCTACGGGCACTTGCAATGGAATGAATATGTCTTCATTGCGCCTCATGTTCACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATc                                                              <  2:23594/149‑1 (MQ=255)
                                                                                       aCAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATc                                                              <  1:92202/149‑1 (MQ=255)
                                                                                             gggTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTc                                                        <  1:447061/148‑1 (MQ=255)
                                                                                               gTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTcgc                                                      >  1:299022/1‑149 (MQ=255)
                                                                                                    cACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTTTTTCTCTATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGtt                                                 <  1:570232/149‑1 (MQ=255)
                                                                                                    cACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAACCGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGtt                                                 >  1:79122/1‑149 (MQ=255)
                                                                                                       gcggTTTCTGGGCTTTGGCGACGCGCTCTTTCAATGGAACGAATCTGTCTTCTTTGCGCGTCATCTACCAACACCTACTTCTCTCTTTCTCGATCACAGAGCGCACACGGCTATTTATTTGCAATACTACATCTTTTTCGCGCGTTTTg                                              <  2:230/146‑1 (MQ=255)
                                                                                                       gCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTATTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCCCATCTTTTTCGCGCGTTTTg                                              >  1:145155/1‑149 (MQ=255)
                                                                                                        cTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGt                                             <  1:579433/149‑1 (MQ=255)
                                                                                                         tGTTTCTGGGCTTTTGCTACCCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTa                                            >  2:44506/1‑149 (MQ=255)
                                                                                                           tttCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACCCCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGGGCGATTTGCAATACCACATCTTTTTGGCGCGTTTTGTAtt                                          >  1:221525/1‑149 (MQ=255)
                                                                                                               ggggCTTTTGCTACGCGTACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTccc                                      <  1:148113/148‑1 (MQ=255)
                                                                                                                gggCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTcccc                                     <  1:73592/149‑1 (MQ=255)
                                                                                                                      ttGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCcaccgca                               >  1:234620/1‑149 (MQ=255)
                                                                                                                           aCGGGCACTTGCAATGAAATGAAGATGTCTTACTTGCGCGTCATGTACACCTTCATATTGCCGTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGa                          <  2:72995/149‑1 (MQ=255)
                                                                                                                             gcgcACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTTATGTACACCTTCATATTTCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGaat                        >  1:398790/1‑147 (MQ=255)
                                                                                                                                   ttGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGc                  >  1:383967/1‑149 (MQ=255)
                                                                                                                                   ttGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGCCTTCGc                  >  1:507801/1‑149 (MQ=255)
                                                                                                                                       aaTGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGCCAcc              >  2:347630/1‑149 (MQ=255)
                                                                                                                                        gcgcaaTGAAGACATCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGCCAc               >  2:422477/5‑147 (MQ=255)
                                                                                                                                        gcgcaaTGAAGACATCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGCCAc               <  1:422477/143‑1 (MQ=255)
                                                                                                                                                 aGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGCCACCGTGGCCAggg    >  2:262322/1‑149 (MQ=255)
                                                                                                                                                   aTGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGGGCGGTTTGTATTTCCCCACCGCACCGGAGGCTTCGCCACCGCAGCCAgggct  >  2:175191/1‑147 (MQ=255)
                                                                                                                                                    |                                                                                                                                                   
GCAGTACTGGTTGCACCTTTGGTTGAGAGCGCAAACACAGAGGAACCGCTCGGCTGACGACTGGTAAAGGCGTCGGCATGGATAGAGACAAACAGGTCAGCACGCTGTTTCTGGGCTTTTGCTACGCGCACTTGCAATGGAATGAAGATGTCTTCATTGCGCGTCATGTACACCTTCATATTGCCCTCTTTCTCGATCAGAGAGCGCAAACGGCGAGCTATTTGCAATACCACATCTTTTTCGCGCGTTTTGTATTTCCCCACCGCACCGGAGTCTTCGCCACCGTGGCCAGGGTC  >  NC_000913_3_hsa_tpiA/2948139‑2948434

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑