Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 2,679,525 G→T A1074D (GCT→GAT)  yphG ← DUF4380 domain‑containing TPR repeat protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,679,5250GT97.7% 140.6 / NA 43A1074D (GCT→GAT) yphGDUF4380 domain‑containing TPR repeat protein
Reads supporting (aligned to +/- strand):  ref base G (0/0);  major base T (21/21);  minor base C (1/0);  total (22/21)
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

GGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAA  >  NC_000913_3_hsa_tpiA/2679381‑2679661
                                                                                                                                                 |                                                                                                                                        
gggTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGa                                                                                                                                     <  2:187733/150‑1 (MQ=255)
   tttttATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAACCCCGCTTa                                                                                                                                  >  2:11605/1‑150 (MQ=255)
         ttaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc                                                                                                                            <  2:485677/150‑1 (MQ=255)
         ttaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc                                                                                                                            >  1:371017/1‑150 (MQ=255)
             caacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCa                                                                                                                        >  2:329476/1‑150 (MQ=255)
             caaaGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGGTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCa                                                                                                                        >  2:119839/1‑150 (MQ=255)
               acGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGGTTAATCgac                                                                                                                            >  2:514168/1‑142 (MQ=255)
               acGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc                                                                                                                            <  1:514168/144‑1 (MQ=255)
                           aaTTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCa                                                                                                          <  1:173903/150‑1 (MQ=255)
                                 taatatttgaGCGGCA‑CGCGCTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATATGGCGGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACGCa                                                                                                    >  1:371305/8‑150 (MQ=255)
                                     tgaggtgCGGCAGCGCG‑TGGCGCTTAAATGTTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATAtt                                                                                                <  2:639687/144‑1 (MQ=255)
                                       atgaGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgc                                                                                              <  1:329476/150‑1 (MQ=255)
                                        tgaGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCTGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgcg                                                                                             <  2:605261/150‑1 (MQ=255)
                                        tgaGCGGCA‑CGCGCTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgcg                                                                                             >  2:464818/1‑150 (MQ=255)
                                         gaGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCCCAAGCAGCCTCATATTgcgc                                                                                            >  2:452218/1‑150 (MQ=255)
                                           gCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCaa                                                                                          <  1:380273/150‑1 (MQ=255)
                                                        gCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTc                                                                              <  1:464818/150‑1 (MQ=255)
                                                           gCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCa                                                                                                    >  2:674031/1‑125 (MQ=255)
                                                           gCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCa                                                                                                    <  1:674031/125‑1 (MQ=255)
                                                                  tatTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGAc                                                                                                       <  2:627565/115‑1 (MQ=255)
                                                                  tatTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGAc                                                                                                       >  1:627565/1‑115 (MQ=255)
                                                                  tatTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGc                                                                    <  1:539447/150‑1 (MQ=255)
                                                                   atTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGcc                                                                   <  1:180560/150‑1 (MQ=255)
                                                                    ttACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCa                                                                  <  1:317217/150‑1 (MQ=255)
                                                                    ttACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCACGGACGCCa                                                                  >  1:657510/1‑150 (MQ=255)
                                                                     tACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTccc                                                                            >  2:29477/1‑139 (MQ=255)
                                                                     tACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTccc                                                                            <  1:29477/139‑1 (MQ=255)
                                                                         gTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATc                                                             >  1:262906/1‑150 (MQ=255)
                                                                              tAGGGTTTAGTGAACGCGGTTAAAAATAACAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCCACCTCCCCGAGTCCCGCGGCCGCCCGCATCGccac                                                        >  2:569351/1‑150 (MQ=255)
                                                                                          aaCGCGGTGAAAAATAAAAGGCAGCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAttt                                            <  1:144727/150‑1 (MQ=255)
                                                                                                 ttAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTa                                     >  2:267228/1‑150 (MQ=255)
                                                                                                       aTAAAAGGCAGCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGTCAGCATCGCCACCATCAGGCATTTTTCTTTAtgctgc                               <  1:569351/150‑1 (MQ=255)
                                                                                                                aTCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTaaa                      >  2:421936/1‑150 (MQ=255)
                                                                                                                 tCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACGCATATTGCGCACCCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCCTCAGGCATTTTTCTTTATGCTGCTGTTGTAAAt                     >  1:185745/1‑150 (MQ=255)
                                                                                                                  cACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCACGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATc                    <  2:657510/150‑1 (MQ=255)
                                                                                                                     ggtggtGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGcc                 <  1:421936/150‑1 (MQ=255)
                                                                                                                           gAATAATGCCGCTTTCGGCCAATCCGTATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACac           >  2:692078/1‑149 (MQ=255)
                                                                                                                                 tGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGacaa     >  1:220401/1‑150 (MQ=255)
                                                                                                                                 agCCGCTTTCGGCCAATCCGGATAAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCAGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTATCTTTATGCTGCTGTTGTAAGTCGCCATACAGCGacaa     >  2:644651/2‑150 (MQ=255)
                                                                                                                                   ccGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATgctgct                              <  1:35580/123‑1 (MQ=255)
                                                                                                                                   ccGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATgctgct                              >  2:35580/1‑123 (MQ=255)
                                                                                                                                    ggCTTTCGGCCAATCCGGCTTAATCGCCGTCAATTCAGTGCGAGCAGACTCATGTTGCGCAACCTCCCCGATTCCCGCGGACGCCAGCATCGCCCCCATCAGGCATTTTTCTTTATGCTGCTGTTGGAAATTGCCATACAGCTAcaacaa  <  1:644651/149‑1 (MQ=255)
                                                                                                                                    cGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGAcaacaa  >  1:638889/1‑150 (MQ=255)
                                                                                                                                                 |                                                                                                                                        
GGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAA  >  NC_000913_3_hsa_tpiA/2679381‑2679661

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑