Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 4,111,662 G→A L179L (CTG→TTG)  yiiQ ← DUF1454 family putative periplasmic protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,111,6620GA97.1% 107.9 / NA 35L179L (CTG→TTG) yiiQDUF1454 family putative periplasmic protein
Reads supporting (aligned to +/- strand):  ref base G (1/0);  new base A (18/16);  total (19/16)
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

AGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGG  >  NC_000913_3_hsa_tpiA/4111519‑4111792
                                                                                                                                               |                                                                                                                                  
aGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCt                                                                                                                               >  2:173216/1‑149 (MQ=255)
 ggAAGATGGCCGCCCCGCAGGGCAGCGGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCtt                                                                                                                              >  2:569600/1‑149 (MQ=255)
   aaGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCtttt                                                                                                                            >  2:561098/1‑149 (MQ=255)
    aGATGGCCGCCCCGCAGGTCAGCAGGTCTGTGACATAGTATTGTGACTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCGAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTc                                                                                                                           <  1:379620/149‑1 (MQ=255)
         gccgccCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGt                                                                                                                      >  2:159357/1‑149 (MQ=255)
          ccgccCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCACCGtt                                                                                                                     >  1:6336/1‑149 (MQ=255)
            gccCCGCAAGGCAAAATTGCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGttct                                                                                                                   >  2:225082/1‑147 (MQ=255)
               ccGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCcg                                                                                                                >  2:487653/1‑149 (MQ=255)
                                tttgAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTAAACACTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGt                                                                                               <  1:50509/147‑1 (MQ=255)
                                       cAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCtt                                                                                        <  1:173216/149‑1 (MQ=255)
                                           ataGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGt                                                                                    <  2:540431/149‑1 (MQ=255)
                                              gagaTTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGtctc                                                                                 <  2:525267/149‑1 (MQ=255)
                                                 atacATCAGCACAAATTCTTAGCTTTTTGTCTTTGATGCAAAGCTTCAAGTGATTCAGTTAGCGCCAGGTTAATCTGTTCAACAGCGAAGGTCAGCCCCGTTTCGCCGTTGTCCGCGACAAAATAACGCAGTGCGCGTTGTCTCACGgt                                                                              >  2:298339/4‑149 (MQ=255)
                                                        ggCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGtaataa                                                                       >  1:132192/1‑149 (MQ=255)
                                                        ggCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGtaataa                                                                       <  1:159357/149‑1 (MQ=255)
                                                         gCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAAc                                                                      <  1:320765/149‑1 (MQ=255)
                                                                 gctttgctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgtttgttt                                                              <  1:561098/149‑1 (MQ=255)
                                                                     tgctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCt                                                                                      >  2:211576/1‑121 (MQ=255)
                                                                     tgctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCt                                                                                      <  1:211576/121‑1 (MQ=255)
                                                                         ttttGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCccgc                                                      >  1:436597/1‑149 (MQ=255)
                                                                                    aTTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAATGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACACAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCg                                           >  1:5895/1‑149 (MQ=255)
                                                                                    aTTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCTACAACATAACGTCGTCCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCTCCGTTAGTAGCg                                           >  2:431649/1‑149 (MQ=255)
                                                                                     ttCAAACCCTCTAGCGATTCAGATAGCGTCAGCTTTTTCGGTTGAACATTTAATGTAAACCTCTTTTCGCTGAGGTCGCGGCCAATAAAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCACAGCCGTAAAAAGCGa                                          <  2:6336/149‑1 (MQ=255)
                                                                                          aCCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCTACTGCa                                     >  1:548506/1‑149 (MQ=255)
                                                                                            cTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTGGCGagagaagt                                   >  2:63592/1‑142 (MQ=255)
                                                                                                  gCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTCATAGAACCCCTCCGTTAGTAGCGACTGCAGTTTTTTc                             <  1:146223/149‑1 (MQ=255)
                                                                                                        cAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCtt                       <  1:552594/149‑1 (MQ=255)
                                                                                                                 ccAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTg              <  1:365337/149‑1 (MQ=255)
                                                                                                                 ccAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTCTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTg              <  1:398474/149‑1 (MQ=255)
                                                                                                                     cTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCa          >  2:93342/1‑149 (MQ=255)
                                                                                                                       tAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTtag                                                <  2:524984/109‑1 (MQ=255)
                                                                                                                       tAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTtag                                                >  1:524984/1‑109 (MQ=255)
                                                                                                                             gTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTACACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCCCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATggg  >  2:307524/1‑149 (MQ=255)
                                                                                                                                    aGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACg                                                                                                   >  2:433015/1‑45 (MQ=255)
                                                                                                                                    aGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACg                                                                                                   <  1:433015/45‑1 (MQ=255)
                                                                                                                                               |                                                                                                                                  
AGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGG  >  NC_000913_3_hsa_tpiA/4111519‑4111792

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: