Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	1,756,919	C→A	Q408K (CAG→AAG)	pykF →	pyruvate kinase I

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	1,756,919	0	C	A	100.0%	157.7 / NA	50	Q408K (CAG→AAG)	pykF	pyruvate kinase I
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (27/23);  total (27/23)

CGTGGTGCCGTTGAAACTGCTGAAAAACTGGATGCTCCGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATCAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCACACAAAGGTGACGTTGTAGTTATGGTTTCTGGTGCACT  >  NC_000913_3_hsa_tpiA/1756775‑1757064                                                                                                                                                 |                                                                                                                                                  cGTGGTGCCGTTGAAACTGCCGAAAAACTGGATGCTCCGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGtt                                                                                                                                               <  1:422575/149‑1 (MQ=255)        ccGTTGAAACTGCTGAAAAACTGGATGCTCCGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTa                                                                                                                                           <  2:190509/146‑1 (MQ=255)        ccGTTGAAACTGCTGAAAAACTGGATGCTCCGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTa                                                                                                                                           >  1:190509/1‑146 (MQ=255)          gTTGAAACTGCTGAAAAACTGGATGCTCCGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAg                                                                                                                                      >  1:545745/1‑149 (MQ=255)          gTTGAAACTGCTGAAAAACTGGATGCTCCGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCACGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCCCTGACCACCAACGAAAAAAAGGCTCATAAGTTGGTACTGAg                                                                                                                                      >  2:8760/1‑149 (MQ=255)              aaaCTGCTGTAAAACTGGATGCTCCGCTGATCGTGGTTGGTACTCAGGGCGGTAAATCTGCTCGCGCAGGACGTAAATCATTCCCGGATGCCCCCATCCTGGCACTGACCACCAACGAAAAGACGGCTCATAAGTTGGTACTGAGCaaa                                                                                                                                  <  2:413102/149‑1 (MQ=255)               aaaagctgAAAAACTGGATGCACCGGTGAGGGTGGTTGATACTCAGGGCGGTAAATCTGCTCGCGCAGTACGAAAAAACTTCCCGGATGCCACCATCCTGGCACTGAAAAAAAAAAAAAAAACGGCTCATAAGTTGGTACTGAGCAAAg                                                                                                                                 <  2:310465/145‑1 (MQ=255)                  tgctgAAAAACTGGATGCTCCGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCg                                                                                                                              >  2:12745/1‑149 (MQ=255)                     tgAAAAACTGGATGCTCCGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTtg                                                                                                                           >  1:745060/1‑149 (MQ=255)                      gAAAAGCTTGATGGTCCTGTGATCGGGGGTGCGACACAGGGCAGTAAATCTGCTCGCACAGTACGAAAATACTTAGCGGATGTCACTATCCTTGGACTAACAACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTtgt                                                                                                                          <  2:13901/149‑1 (MQ=255)                          aaCTGGATGCTCCGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCg                                                                                                                      >  2:745364/1‑149 (MQ=255)                              ggATGCTCCGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGc                                                                                                                  <  1:622856/149‑1 (MQ=255)                                    tCCGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTa                                                                                                            >  1:314130/1‑149 (MQ=255)                                      cGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTaaa                                                                                                          <  1:405359/149‑1 (MQ=255)                                      cGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTaaa                                                                                                          <  1:405347/149‑1 (MQ=255)                                        cTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAaga                                                                                                        <  1:41521/149‑1 (MQ=255)                                          gATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTgg                                                                                                                                             <  1:159945/110‑1 (MQ=255)                                          gATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTgg                                                                                                                                             >  2:159945/1‑110 (MQ=255)                                                  ttGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCt                                                                                              >  2:269850/1‑149 (MQ=255)                                                   ggCTACTCAGGGCGGTAAATGTGCTAGCGCAGGTCGTAAGTACTTCCCGGATGCCACCATCCTGGCGCTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTa                                                                                             <  2:637233/148‑1 (MQ=255)                                                    gCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTAc                                                                                            <  2:745060/149‑1 (MQ=255)                                                      tACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTa                                                                                                                                           >  2:307929/1‑100 (MQ=255)                                                      tACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTa                                                                                                                                           <  1:307929/100‑1 (MQ=255)                                                      tACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACtg                                                                                          >  2:468307/1‑149 (MQ=255)                                                      tACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACtg                                                                                          >  1:237120/1‑149 (MQ=255)                                                       aCTCAGGGCGGTAAATCTGCTCGCGCAGTAGGTAAATACTTCCCGGATGCCACCATCCGGGCACTGACCACCACCGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGCTTTGCCGCAGCTTGTTAAAGAGATCACttgtcgcgt                                                                                         >  2:412892/1‑142 (MQ=255)                                                       aCTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGAt                                                                                                     <  2:291770/137‑1 (MQ=255)                                                       aCTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGAt                                                                                                     >  1:291770/1‑137 (MQ=255)                                                                 gTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTAc                                                                               >  1:564747/1‑149 (MQ=255)                                                                  tAAATCTGCTCGCGAAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAACCGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGGGATCACTTCTACTGGTGATTTCTAcc                                                                              >  2:634013/1‑149 (MQ=255)                                                                      tCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTACAGAGATCACTTCTACTGATGATTTCTACCGTCt                                                                          >  2:397549/1‑149 (MQ=255)                                                                             gcgcAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAACGAGATCACTTCTCCTGCGGATTTCTACCGTCTGGGTaac                                                                   >  2:532241/1‑148 (MQ=255)                                                                             gcgcAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTTCCGTCTGGGTaaa                                                                   >  2:220043/1‑149 (MQ=255)                                                                             gcgcAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTaaa                                                                   >  2:597079/1‑149 (MQ=255)                                                                              cgcAGTACGTAAATCCTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAg                                                                  <  1:596740/149‑1 (MQ=255)                                                                                cAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGaa                                                                <  1:119103/149‑1 (MQ=255)                                                                                                         caccaTCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGcac                                       >  1:103500/1‑149 (MQ=255)                                                                                                         caccaTCCTGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGcac                                       <  1:220043/149‑1 (MQ=255)                                                                                                               ccggggaCTGACCACCAACGAAAAAACGGCTCATAAGGTGGTACTGAGCAAAGGCGTTGTGCCGGAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCGCTGCAGAGCGGTCTGGCACACAAAg                                 <  2:403084/143‑1 (MQ=255)                                                                                                                 tGGCACTGACCACCAACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCACACAAAGGt                               >  1:490888/1‑149 (MQ=255)                                                                                                                   gCACTGTCCACCAACGAAAAACAGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCACACAAAGGTGa                             <  1:621428/149‑1 (MQ=255)                                                                                                                          ccaccaACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCACACAAAGGTGACGTTGTa                      <  2:545745/149‑1 (MQ=255)                                                                                                                           catcaACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCCCACAAAAGTGACGCTGTAg                     >  2:656633/4‑149 (MQ=255)                                                                                                                              caACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTAcc                                                                              >  2:482745/1‑89 (MQ=255)                                                                                                                              caACGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTAcc                                                                              <  1:482745/89‑1 (MQ=255)                                                                                                                               aaCGCAAAAACGGCTCATAAGTTGGTACGGAGCAAAGGCGTTGTGCCGCAGCTTGGTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCACACAAAGGTGACGTTGTAGTTAt                 <  2:406869/149‑1 (MQ=255)                                                                                                                               aaCGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCACACAAAGGTGACGTAGTAGTTAt                 >  2:690009/1‑149 (MQ=255)                                                                                                                                 cGAAAAAACGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCACACAAAGGTGACGTTGTAGTTATgg               <  1:597079/149‑1 (MQ=255)                                                                                                                                  gAAAAAACGGCTCATAAGTTGGTACTGAGCAAAAGCGTTGTGACGCAGCTTGTTAAAGAGATTACTCCTAGTAATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCCCACAAGGGTGACGTTGTAGATATGGt              >  2:123439/1‑149 (MQ=255)                                                                                                                                         cGGCTCATAAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCACACAAAGGTGACGTTGTAGTTATGGTTTCTgtt       >  1:391269/1‑147 (MQ=255)                                                                                                                                             tcataaGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCACACAAAGGTGACGTTGTAGTTATGGTTTCTGGTGCAc   >  1:689172/1‑149 (MQ=255)                                                                                                                                             tcataaGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCACACAAAGGTGACGTTGTAGTTATGGTTTCTGGTGCAc   <  1:468307/149‑1 (MQ=255)                                                                                                                                              cataaGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCACACAAAGGCGACGTTGTAGTTATGGTTTCTGGTGCACt  <  1:745364/149‑1 (MQ=255)                                                                                                                                                 |                                                                                                                                                  CGTGGTGCCGTTGAAACTGCTGAAAAACTGGATGCTCCGCTGATCGTGGTTGCTACTCAGGGCGGTAAATCTGCTCGCGCAGTACGTAAATACTTCCCGGATGCCACCATCCTGGCACTGACCACCAACGAAAAAACGGCTCATCAGTTGGTACTGAGCAAAGGCGTTGTGCCGCAGCTTGTTAAAGAGATCACTTCTACTGATGATTTCTACCGTCTGGGTAAAGAACTGGCTCTGCAGAGCGGTCTGGCACACAAAGGTGACGTTGTAGTTATGGTTTCTGGTGCACT  >  NC_000913_3_hsa_tpiA/1756775‑1757064

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: ‑