Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	4,183,136	G→T	R637L (CGT→CTT)	rpoB →	RNA polymerase, beta subunit

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	4,183,136	0	G	T	100.0%	176.1 / NA	57	R637L (CGT→CTT)	rpoB	RNA polymerase, beta subunit
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base T (29/28);  total (29/28)

CTCCGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCG  >  NC_000913_3_hsa_tpiA/4182992‑4183275                                                                                                                                                 |                                                                                                                                            cTCCGTATCGTGATTTGACCGCCGGTGTTGTAACGGACGCCATTCACTGCCTGTCTGGTATCGACGGAGGCAACTGCGTTATCGCCCAGGCGAACGCCAACTTGTATCAAAAAAGCACCTTCGTAGAAGACCTGGTGCATTGCCTTAGc                                                                                                                                         >  2:12263/1‑149 (MQ=255) cTCCGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGc                                                                                                                                         >  1:293135/1‑149 (MQ=255)  tCCGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCGGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCa                                                                                                                                        >  1:360283/1‑149 (MQ=255)  tCCGTATCGTAAAGTGACCGACGGCGTTGTAACTGACGAAATTCACCACCTGTCCGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGCATGAAGAAGGTCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCa                                                                                                                                        >  2:195259/1‑149 (MQ=255)         cGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGa                                                                                                                                 <  1:477595/149‑1 (MQ=255)           tAAAGTGACCGACGGTGTTGTAACTGACAAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAATTGGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTAGCCTTAGCAAAGGCGAAt                                                                                                                               >  1:56551/1‑149 (MQ=255)               gTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATACAg                                                                                                                           >  2:531909/1‑149 (MQ=255)                  aCCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCtt                                                                                                                        <  2:365476/149‑1 (MQ=255)                          tgttgtAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTACAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGcc                                                                                                                <  2:109723/149‑1 (MQ=255)                             tgtAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAATTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCcgcg                                                                                                             >  2:259264/1‑149 (MQ=255)                                    gACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCGGCTTGTTGAGCGGGGACCAGGt                                                                                                      >  1:174474/1‑149 (MQ=255)                                     aCGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCCGCTTGTTCAGCCGCGACAAGGtc                                                                                                     >  2:639700/1‑148 (MQ=255)                                      cGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTg                                                                                                    <  1:644876/149‑1 (MQ=255)                                       gAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCAAATCCAGCTCGTTCAGCCGCGACCAGGTTGa                                                                                                   >  2:157230/1‑149 (MQ=255)                                       gAAATTCACTACCTGTCGTCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAAATCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGa                                                                                                   <  1:224723/149‑1 (MQ=255)                                        aaaTTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTAGCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGAc                                                                                                  <  2:392733/149‑1 (MQ=255)                                                tACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACC‑GGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGAc                                                                                         <  1:268262/149‑1 (MQ=255)                                                gaCCTGTTGGCAATCGAAGAAGGCAAGTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGa                                                                                          <  2:572041/148‑1 (MQ=255)                                                 aCCTTTCTGCTATCGAAGAAGGCAACGACGTTAGCGCCCAGGGGAACTCCAACTTGGATGAAGGAGGCCACGTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGAc                                                                                         <  1:138628/149‑1 (MQ=255)                                                 aCCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGAc                                                                                         >  1:471465/1‑149 (MQ=255)                                                        tGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCa                                                                                  >  1:610446/1‑149 (MQ=255)                                                             tCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCcag                                                                             >  1:621597/1‑149 (MQ=255)                                                             tCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGAACTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCcag                                                                             <  2:578017/149‑1 (MQ=255)                                                               gaagaaGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCcagca                                                                           <  1:456799/149‑1 (MQ=255)                                                               gaagaaGGCAACTACGTTATCGCCAAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTAGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCcagca                                                                           >  2:600372/1‑149 (MQ=255)                                                                  gaagGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAggt                                                                        >  1:459535/1‑149 (MQ=255)                                                                   aagTCAACTACGTTATCTCCCAGGCGAACTCCAACGTGGATGAAGAAGGCCACTTCTTAGAAGACCTGGTAACTTTCCTTAGCAAAGGCGAACCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAggtg                                                                       <  2:370122/149‑1 (MQ=255)                                                                   aagGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGTACGCCGCGAGACTACATGGACGTATCCACCCAGCAggtg                                                                       <  1:330355/149‑1 (MQ=255)                                                                     ggCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAg                                                                                                                           >  1:233331/1‑95 (MQ=255)                                                                     ggCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAg                                                                                                                           <  2:233331/95‑1 (MQ=255)                                                                     ggCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCGCCCAGCAggtggt                                                                     >  1:114560/1‑149 (MQ=255)                                                                       cAACTAGGTTATCGCCCAGGCGAACTCCAATTTGGATGAAGAAGGCCACTTCGAAGAAGACCTGGTAACTTGCCTTAGCAAAGGCTAATCCAGCTTGTACAGCCGCGACCAGGTTGACTCCATGGACGTATCCACCCAGCAGGTGGTAt                                                                   <  1:592365/149‑1 (MQ=255)                                                                        aaCTCCGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAACACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATc                                                                  <  1:33029/149‑1 (MQ=255)                                                                        aaCTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATc                                                                  >  1:452545/1‑149 (MQ=255)                                                                           tACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGt                                                               >  2:245821/1‑149 (MQ=255)                                                                                 aTCGCCGAGGGGAACTCCGTCTTGGATGAGGAATGCCAGTTCGTAGAGGGCCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCGGCGACCCGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGc                                                         <  2:318685/149‑1 (MQ=255)                                                                                        aGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTg                                                  >  1:542816/1‑149 (MQ=255)                                                                                          gCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGAt                                                >  2:342967/1‑149 (MQ=255)                                                                                                tCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGtt                                          >  1:470874/1‑149 (MQ=255)                                                                                                tCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGtt                                          >  2:624833/1‑149 (MQ=255)                                                                                                  cAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTcc                                        <  1:573429/149‑1 (MQ=255)                                                                                                   gaCTTGGATGAAGAAGGTCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCt                                       <  1:195259/148‑1 (MQ=255)                                                                                                   aattgggATGAAGGAGGCCGGTTGGTAGAAGGTCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACTAGGTTGACTACAGTGACGTATCGACCCAGCGGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCt                                       <  2:645854/144‑1 (MQ=255)                                                                                                    aCTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGTAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTg                                      <  2:254878/149‑1 (MQ=255)                                                                                                    aCTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTg                                      <  2:610446/149‑1 (MQ=255)                                                                                                    aCTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGCAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTg                                      <  1:206627/149‑1 (MQ=255)                                                                                                         gATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAaca                                 <  1:80735/149‑1 (MQ=255)                                                                                                                  gggcACTTCGTAGAAGACTTGGGAACTTGCCTTAGCAAAGGGGAATCCATCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGGATCCTCCCAGCAGGTGGTATCCGTCGGGGTGTCCCTGATCCCGTTCCTGGAACACGATGACGc                        <  2:132945/146‑1 (MQ=255)                                                                                                                  ggCCACTTCGTAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGc                        >  1:116208/1‑149 (MQ=255)                                                                                                                    ccACTTCGTAGAAGACCTGGTAACTTGCATTCAGAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACCCGATGACGCCa                      >  2:146321/1‑149 (MQ=255)                                                                                                                            tAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGCTGACGCCAACCGTGCa              >  2:471355/1‑149 (MQ=255)                                                                                                                            tAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCa              >  1:9775/1‑149 (MQ=255)                                                                                                                            tAGAAGACCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCa              >  1:308423/1‑149 (MQ=255)                                                                                                                                 gaCCTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGAt         <  1:245821/149‑1 (MQ=255)                                                                                                                                    cTGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCCGCCGCGACCAGGTCGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATggg      <  1:53078/149‑1 (MQ=255)                                                                                                                                     tGGTAACTTGCCTTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGt     >  1:315031/1‑149 (MQ=255)                                                                                                                                        tAACTTGCCTCAGCAAATGAGTATCCAGCCTGTTCAGCCGCGACCTGGGTGCCTACATCGACCTCTCCACCCAGCAGGTGGTATCCGTCGTTGTTTCCCTGACCCCGTTCCTGTAACACGATGACGCCAACCGTGCATTGATGGGTGCg  <  2:401882/149‑1 (MQ=255)                                                                                                                                                 |                                                                                                                                            CTCCGTATCGTAAAGTGACCGACGGTGTTGTAACTGACGAAATTCACTACCTGTCTGCTATCGAAGAAGGCAACTACGTTATCGCCCAGGCGAACTCCAACTTGGATGAAGAAGGCCACTTCGTAGAAGACCTGGTAACTTGCCGTAGCAAAGGCGAATCCAGCTTGTTCAGCCGCGACCAGGTTGACTACATGGACGTATCCACCCAGCAGGTGGTATCCGTCGGTGCGTCCCTGATCCCGTTCCTGGAACACGATGACGCCAACCGTGCATTGATGGGTGCG  >  NC_000913_3_hsa_tpiA/4182992‑4183275

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: ‑