Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 264,098 G→T L50L (CTC→CTA)  ykfH ← uncharacterized protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA264,0980GT100.0% 114.0 / NA 37L50L (CTC→CTA) ykfHuncharacterized protein
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base T (20/17);  total (20/17)

CCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACT  >  NC_000913_3_hsa_tpiA/263958‑264235
                                                                                                                                             |                                                                                                                                         
cccAGGCGTAGGGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTcc                                                                                                                                   <  1:442249/149‑1 (MQ=255)
  catgcgcAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCgg                                                                                                                                 <  1:46649/146‑1 (MQ=255)
  cAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCgg                                                                                                                                 >  1:435429/1‑149 (MQ=255)
   aGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGc                                                                                                                                <  1:212032/149‑1 (MQ=255)
             tAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCGTTACCGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTTGGCGTATAACACTAAGACTCCAGCGATATCCGGa                                                                                                                      >  2:545335/1‑149 (MQ=255)
                tctcCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACg                                                                                                                   <  2:266482/149‑1 (MQ=255)
                     cGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCt                                                                                                              >  1:500749/1‑149 (MQ=255)
                      gCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGCGCACCATT‑TTGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTccccg                                                                                                             >  1:458198/1‑147 (MQ=255)
                               cccTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGAAACGTCCCTGCCGCTGTaa                                                                                                    >  2:570397/1‑149 (MQ=255)
                                   aggaGGGTTGCTCATTACAGTCCTCCCGTAGTGATAGTCACAGCTGAAGTGCAATAGGCTGGTAGAGGGC‑CCATTGCTGTCCTTGCGGCGTTTGGCGTATACCGCTAGGTCTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGAc                                                                                                <  2:35390/146‑1 (MQ=16)
                                    gTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGTATATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACa                                                                                               <  2:98702/149‑1 (MQ=255)
                                    gTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACa                                                                                               >  2:185753/1‑149 (MQ=255)
                                      aGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGa                                                                                             <  1:158964/149‑1 (MQ=255)
                                              tCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGCCGCTACCg                                                                                     >  1:63354/1‑149 (MQ=255)
                                                 ttACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGc                                                                                  <  2:467202/149‑1 (MQ=255)
                                                     aGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGATTCCGGCGATATCTGGAACGTCCCTGCCGGTGTAATGGCAGGCGCTACCGTGctcat                                                                              >  2:141700/1‑145 (MQ=255)
                                                     aGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACt                                                                              >  1:236814/1‑149 (MQ=255)
                                                      ggtctcCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTg                                                                             >  1:128311/3‑149 (MQ=255)
                                                                    tCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGc                                                               >  1:194321/1‑149 (MQ=255)
                                                                     cAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCGGGTgga                                                              >  1:577548/1‑147 (MQ=255)
                                                                               ggaagCTCATCGGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAg                                                    <  1:618344/145‑1 (MQ=255)
                                                                                   gCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTc                                                >  2:231862/1‑149 (MQ=255)
                                                                                    cTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCg                                               <  2:128311/149‑1 (MQ=255)
                                                                                     tcatcaGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCgg                                              <  1:185753/149‑1 (MQ=255)
                                                                                          aggcaggTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCAGAAGATTCGGGACTc                                         >  1:97709/1‑149 (MQ=255)
                                                                                                 tataGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGCACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGACGGTGCAGTAGCCAAAGATTCGGGAGTCAGGCTGc                                  >  2:528711/1‑149 (MQ=18)
                                                                                                 tataGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGAGATATCGGGAACGTCGCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAgcgtgc                                  >  1:525426/1‑144 (MQ=18)
                                                                                                   taGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTg                                <  2:458198/149‑1 (MQ=255)
                                                                                                     gggC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGc                              <  2:500749/149‑1 (MQ=255)
                                                                                                        c‑ccATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGt                           >  2:336469/1‑149 (MQ=255)
                                                                                                            aTTGCGGTCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGTtata                        <  1:231862/149‑1 (MQ=255)
                                                                                                                   tCCTGGCGGCGTTCGGCGTATACCGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCAt                 >  1:277814/1‑149 (MQ=255)
                                                                                                                             gTTCGGCGTATACCGCTAGGACTCCGGCGACATCCGGAACGTCCCTGCCGGTGTAATGACCGACGCTACCGTGCCAATGGTATTTGCCGGTGCAGTAGCGAAAGATTGCGGCCTCACGCTGCCGCCGGTATATCGGACTTGCGCTGCgc       >  2:571093/1‑148 (MQ=17)
                                                                                                                                 ggCGTACTCCGCTAGGGCTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTAc   <  1:453158/149‑1 (MQ=255)
                                                                                                                                  gCGTACACCGGTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGTTATTTCCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACt  <  1:141700/149‑1 (MQ=14)
                                                                                                                                         ccGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCAc                                                                               <  1:608061/65‑1 (MQ=255)
                                                                                                                                         ccGCTAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCAc                                                                               >  2:608061/1‑65 (MQ=255)
                                                                                                                                             |                                                                                                                                         
CCCAGGCGCAGTGTAATCTCCCGCTGCAGGCCCCTGGTAGGGTTGCTCATTACAGTTCTCCACTATTGTCAGTTCAGGGTGATGCTCATCAGGCAGGTATAGGGC‑CCATTGCGGTCCTGGCGGCGTTCGGCGTATACCGCGAGGACTCCGGCGATATCCGGAACGTCCCTGCCGGTGTAATGACAGACGCTACCGTGCCACTGGTATTTGCCGGTGCAGTAGCGAAAGATTCGGGACTCAGGATGCTGGCGGTATATCGTCATTGCCCTGCGTTTACT  >  NC_000913_3_hsa_tpiA/263958‑264235

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑