Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	4,604,698	C→A	A186E (GCA→GAA)	bglJ →	bgl operon transcriptional activator

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	4,604,698	0	C	A	100.0%	155.1 / NA	46	A186E (GCA→GAA)	bglJ	bgl operon transcriptional activator
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (20/26);  total (20/26)

CCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTAC  >  NC_000913_3_hsa_tpiA/4604558‑4604840                                                                                                                                             |                                                                                                                                                ccgacTGAAAAATCAGGGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGCAATATTGCGCGTTAGGTCTCGGGCCTACGCAAGGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAAt                                                                                                                                         <  2:82943/149‑1 (MQ=255) ccgacGGAACAATAAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAACATTGCGGCGGATGTCGCGGGGCTACTCAATGACACAAATTGCCTAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAAt                                                                                                                                         <  2:82797/149‑1 (MQ=255)          aaaTCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGa                                                                                                                                <  1:159937/148‑1 (MQ=255)                gTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGCTCCGTGAACATAAATTGAATGTGATGTCGa                                                                                                                          >  1:563381/1‑149 (MQ=255)                   gTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAAc                                                                                                                       >  2:631129/1‑149 (MQ=255)                      cATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAACAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTgg                                                                                                                    >  2:376293/1‑149 (MQ=255)                            ccAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCa                                                                                                              >  1:224555/1‑149 (MQ=255)                             cAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAg                                                                                                             >  1:432835/1‑149 (MQ=255)                                 gCCGGACGTTAAGCCCGACGGAGAGAGAAATATTTCGCTTTATGTCGCGGGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCt                                                                                                         <  2:294757/149‑1 (MQ=255)                                   ctgACTTTAAGCGCGATGGATATATAATTTTTGCGCTTTATTTCGCGTGGTTTCTCAATTACACAATTTGCCGAGCAGTTTAAACGCAATATCAAAACGATTCGTGAACATAATTTTATTGTGATGTCGAAACTGGGCGTCAGTTCTGa                                                                                                       <  2:432325/147‑1 (MQ=255)                                    ggACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGAc                                                                                                      >  1:115695/1‑149 (MQ=255)                                         ttAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGTAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAgg                                                                                                 <  1:268068/149‑1 (MQ=255)                                         ttAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAgg                                                                                                 <  2:265465/149‑1 (MQ=255)                                                cGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACTATCCGTAAACATAAAGTTAATGTGATTGCGAAACAGGGCGTCAGTTCGGACGCAggtgtatga                                                                                          >  1:345185/1‑142 (MQ=255)                                                  aCGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGa                                                                                        <  2:115695/149‑1 (MQ=255)                                                  aCGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGa                                                                                        <  2:432835/149‑1 (MQ=255)                                                     gagagagaAGTATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGc                                                                                     >  1:327917/1‑149 (MQ=255)                                                          agaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCACCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGCTGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGccg                                                                                >  2:255640/1‑147 (MQ=255)                                                                 ttGCGCTTTATGTCGCGTGGCTACTCAACCACACTAATTGCCGAACAACCGAAACCCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCt                                                                        <  1:733681/149‑1 (MQ=255)                                                                 tggcgtgttATGTCGCGTGGCTACTCAATGACACAAATTGCCGGGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCt                                                                        <  2:203806/142‑1 (MQ=255)                                                                    cgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGtt                                                                     >  1:447513/1‑149 (MQ=255)                                                                    cgcTTTATGGCGCGTGGCTACTAAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGtt                                                                     <  1:356162/149‑1 (MQ=255)                                                                      tcttAAGTTGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCTTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTtat                                                                   <  2:563888/147‑1 (MQ=255)                                                                      cTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTtat                                                                   <  2:692822/149‑1 (MQ=255)                                                                       tttATGTCGAGTGGCTACGCAATGACACAAATTGACGAGCAGCTTAAACGCAATAGCAAAACGATCTGTGAACATAAATTTAATGTGAAGTCGAAACTGGGCGTCAGTACTGACGCAGGGTTGTTGGAGGCCGCAG‑GTATTCTGTtatg                                                                  >  2:594810/1‑149 (MQ=255)                                                                            gTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGc                                                             <  1:691139/149‑1 (MQ=255)                                                                                        cTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAg                                                                                       >  2:171944/1‑112 (MQ=255)                                                                                        cTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAg                                                                                       <  1:171944/112‑1 (MQ=255)                                                                                           aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACaa                                              >  2:565217/1‑149 (MQ=255)                                                                                           aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACaa                                              <  2:447513/149‑1 (MQ=255)                                                                                             tGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGt                                            >  2:555313/1‑149 (MQ=255)                                                                                               acacAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTaa                                          >  2:289167/1‑149 (MQ=255)                                                                                                 acaAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAATAAGTAAtg                                        >  2:247582/1‑149 (MQ=255)                                                                                                     aTTGCCGATCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGGTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGtt                                    <  1:376293/149‑1 (MQ=255)                                                                                                            agcagcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGGTGTCGAAACTGGGAGGCAGTTCTGACGCAGGGCTGTTCG‑GGATGCTGAAGATTCTGATATGTATGCGGCATTGCGAACCAAGTACTGTGTTGAATccc                             >  1:173219/1‑149 (MQ=255)                                                                                                             gaaggttAAACGCAATATCAAAACGATCCGGGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCt                            <  2:94858/144‑1 (MQ=255)                                                                                                               agcTTAAACGCAATATCAAAACGATGCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGCTCTCACCCCGGGTTGTCCAACGCGGCTG‑ATATACAATCATGCAGTCGGCATTGCGACACAAGTGTTGTGTTGCATCCCTAt                          <  2:721896/149‑1 (MQ=255)                                                                                                                gcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTAtt                         >  1:6720/1‑149 (MQ=255)                                                                                                                        gCAATATCAAAACGATCCGTGAACATAAATTTAATTGGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCa                 <  2:345185/149‑1 (MQ=255)                                                                                                                          aaTATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCat                <  1:751038/148‑1 (MQ=255)                                                                                                                          aaTATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCat                >  2:751038/1‑148 (MQ=255)                                                                                                                              tCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGc           >  1:725097/1‑149 (MQ=255)                                                                                                                                  aaCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAATAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCggg       <  1:247582/149‑1 (MQ=255)                                                                                                                                   aCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGt      <  2:222337/149‑1 (MQ=255)                                                                                                                                    ctaTCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCTTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTATTGTTTTGCATCCCTATTAATCCGCATGATGCCGGGtt     <  2:178873/147‑1 (MQ=255)                                                                                                                                       gccGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTCATCCTCGTTATGCCGGCTTTAc  <  2:652568/148‑1 (MQ=255)                                                                                                                                             |                                                                                                                                                CCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAG‑ATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTAC  >  NC_000913_3_hsa_tpiA/4604558‑4604840

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: ‑