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_tpiA	4,111,662	0	G	A	97.8%	147.4 / NA	46	L179L (CTG→TTG)	yiiQ	DUF1454 family putative periplasmic protein
Reads supporting (aligned to +/- strand):  ref base G (0/1);  new base A (26/19);  total (26/20)
Fisher's exact test for biased strand distribution p-value = 4.35e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

AAGGAAGATGGCC‑GCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGCGG  >  NC_000913_3_hsa_tpiA/4111518‑4111804                                                                                                                                                  |                                                                                                                                               aaGGAAGATGGCCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAAccc                                                                                                                                             <  2:538614/149‑1 (MQ=255)    gAAGATGGCCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCtt                                                                                                                                          <  1:251449/149‑1 (MQ=255)    gAAGATGGCCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGGTCAACAGCGAAGGTCAACCCCtt                                                                                                                                          >  2:808179/1‑149 (MQ=255)           gcctgccCTGAAGGGCAGTAGGTGTATGAAAAGGTATAGTGATTCATGTGCACAAAGGCTTTGTTTTGTGCCATTTATTCAAACCTTCAACCGAGTCAGTTAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCg                                                                                                                                   <  2:161554/145‑1 (MQ=255)                   cGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCcgc                                                                                                                           <  1:547393/149‑1 (MQ=255)                              agGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAAc                                                                                                                >  1:116540/1‑149 (MQ=255)                                 tCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAAACTTCAAGCGCTTTAGGTAGCGCCGGCTTAATCGGTTGCACAGCGAAGGTCAACCGCTTTTCGCCGTTGTCCGCGAGAACATAGCgta                                                                                                             >  2:273558/1‑147 (MQ=255)                                    gtgAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTg                                                                                                          >  2:225051/1‑149 (MQ=255)                                                agagATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGtct                                                                                              >  2:175992/1‑149 (MQ=255)                                                  agaTTCATCGGCACAAAGTCTTCGCTTGTTGTCATTTATTCAAACCTACAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCCGTTCGCCGTCGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCg                                                                                            <  2:676003/149‑1 (MQ=255)                                                    aTTCAACGGCACAAGGGCTTTGCTTTTTGTCATTTATGCAAATCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGgt                                                                                          <  2:469611/149‑1 (MQ=255)                                                     ttCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCCCGgtg                                                                                         >  2:125902/1‑149 (MQ=255)                                                      tCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGgtgt                                                                                        >  2:762141/1‑149 (MQ=255)                                                                aaaGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgttt                                                                              <  1:225051/149‑1 (MQ=255)                                                                aaaGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgttt                                                                              <  1:762141/149‑1 (MQ=255)                                                                aaaGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgttt                                                                              >  1:572228/1‑149 (MQ=255)                                                                 aaGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGc                                                                                                                                     >  1:747684/1‑93 (MQ=255)                                                                 aaGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGc                                                                                                                                     <  2:747684/93‑1 (MQ=255)                                                                    gctttgctttTTGTCATTTATTCAAACCTTCAAGCGATTTAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgtttgttt                                                                          <  1:47884/149‑1 (MQ=255)                                                                         gctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTcca                                                                     >  1:6701/1‑148 (MQ=255)                                                                               tGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCa                                                                                                             <  1:821774/103‑1 (MQ=255)                                                                               tGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCa                                                                                                             >  2:821774/1‑103 (MQ=255)                                                                                   aTTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTtagt                                                           >  1:117044/1‑149 (MQ=255)                                                                                        ttCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGa                                                      >  1:330422/1‑149 (MQ=255)                                                                                        ttCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGa                                                      >  2:421834/1‑149 (MQ=255)                                                                                           aaaCCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTg                                                   >  1:704747/1‑149 (MQ=255)                                                                                                tttgaGCGATTAAGAGAGTGCCAGCTAAAGCGGTTTAGCAGTGTGGGTCAGCTCCTTACCGCCGTTCTCCGCAACAACATAACGCTGTGTACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGtt                                              <  2:755644/145‑1 (MQ=255)                                                                                                   aaGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGttttt                                           >  1:627011/1‑149 (MQ=255)                                                                                                   aaGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGttttt                                           >  1:594365/1‑149 (MQ=255)                                                                                                       gATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTg                                       >  1:243858/1‑149 (MQ=255)                                                                                                        aTTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGCAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTCCAGTTTTTTCTgg                                      >  2:462901/1‑149 (MQ=255)                                                                                                           cAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCtt                                   <  1:533557/149‑1 (MQ=255)                                                                                                            aGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCttt                                  >  2:107783/1‑149 (MQ=255)                                                                                                            aGATAGCGCCAGCGTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCttt                                  <  1:175992/149‑1 (MQ=255)                                                                                                             gATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCttt                                  <  1:283313/148‑1 (MQ=255)                                                                                                             gATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCttt                                  >  2:283313/1‑148 (MQ=255)                                                                                                                  cgcCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGttt                            <  1:107783/149‑1 (MQ=255)                                                                                                                    ccAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTg                          <  2:594365/149‑1 (MQ=255)                                                                                                                     cAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTgg                         <  1:64227/149‑1 (MQ=255)                                                                                                                     cAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTgg                         >  2:64227/1‑149 (MQ=255)                                                                                                                      aGCTTAATCGGTTCAACAACGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTCTTGGt                        <  1:648866/149‑1 (MQ=255)                                                                                                                             tCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGGTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAAt                 >  1:451822/1‑149 (MQ=255)                                                                                                                                    aaCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTGATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTCTGTGTTTTGGTCATTAATGAGGtaa          >  2:388005/1‑147 (MQ=255)                                                                                                                                        gCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAg                                                                                                            >  2:452219/1‑47 (MQ=255)                                                                                                                                        gCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAg                                                                                                            <  1:452219/47‑1 (MQ=255)                                                                                                                                            aGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGCgg  >  2:171311/1‑149 (MQ=255)                                                                                                                                                  |                                                                                                                                               AAGGAAGATGGCC‑GCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGCGG  >  NC_000913_3_hsa_tpiA/4111518‑4111804

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: ‑