Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	4,184,277	G→C	Q1017H (CAG→CAC)	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	4,184,277	0	G	C	100.0%	165.5 / NA	48	Q1017H (CAG→CAC)	rpoB	RNA polymerase, beta subunit
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base C (24/24);  total (24/24)

TCTGTTCAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCAGTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGCCGTATCCAGCCTGGTGACAA  >  NC_000913_3_hsa_tpiA/4184136‑4184420                                                                                                                                              |                                                                                                                                                tCTGTTCAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACACCTGGCTGAGCACTCTGACg                                                                                                                                          >  2:366265/1‑149 (MQ=255)    gTTCAGCCGTATCCGTGCTCTGCCGGTGGCGGGTTCCGTCGCCGTTCGCCCGCTCTACAAACTGCCGCGCGATCGCTGCCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAAc                                                                                                                                       <  1:205900/149‑1 (MQ=255)     ttCAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAGACAAAATCAGCTGGAACAGCTGCCTGAGCACTATGACGAACt                                                                                                                                      >  2:518962/1‑149 (MQ=255)       cAGCCGTATCCGTGCTGTGCTGGTAGCCTGTGGCGTGGAAGCTGCGAAGCTCGACAAACTGGTGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGa                                                                                                                                    <  1:416297/149‑1 (MQ=255)          ccGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAAATGCCGTGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAac                                                                                                                                 >  2:149494/1‑149 (MQ=255)                  gtgctgtgctGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTc                                                                                                                         >  2:626959/1‑149 (MQ=255)                    gctgtggtgGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGGTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCga                                                                                                                       <  2:278090/149‑1 (MQ=255)                           tgGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGaaa                                                                                                                <  1:728725/149‑1 (MQ=255)                             gTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGaaa                                                                                                                <  1:728837/147‑1 (MQ=255)                             gTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGaaa                                                                                                                >  2:728837/1‑147 (MQ=255)                             gTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGCTCGAGAAGAAACt                                                                                                              >  2:717671/1‑149 (MQ=255)                             gTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACCAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACCCGAGTTCGagaaagaaca                                                                                                              >  2:728725/1‑143 (MQ=255)                                 ccGGGGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAACCAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTGGAGAAGAAACTCGaa                                                                                                          <  2:743744/149‑1 (MQ=255)                                  cGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAg                                                                                                         <  2:33315/149‑1 (MQ=255)                                   ggTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGaa                                                                                                                                        >  1:533880/1‑117 (MQ=255)                                   ggTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGaa                                                                                                                                        <  2:533880/117‑1 (MQ=255)                                     tGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGa                                                                                                      <  1:6663/149‑1 (MQ=255)                                      ggCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCAGGTTCAACGTTCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGaa                                                                                                     >  1:889887/1‑149 (MQ=255)                                        cGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGATGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGCGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAAc                                                                                                   <  1:214216/149‑1 (MQ=255)                                          ttGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAAcgc                                                                                                 >  2:624637/1‑149 (MQ=255)                                           tGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAAcgcc                                                                                                <  2:278658/149‑1 (MQ=255)                                                       gCTCGACAAACTGCCGCGCGAGCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCAAAAAGAGACTCGCAACGAAACGGCTCCAAATCAccc                                                                                    >  2:396578/1‑149 (MQ=255)                                                                aCTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGcgacg                                                                           >  2:621499/1‑149 (MQ=255)                                                                   gCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAGAGGCCGCAAAATCACCCAGGGCGACGATc                                                                        >  1:778588/1‑149 (MQ=255)                                                                     cgcgcgATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTg                                                                      <  1:375015/149‑1 (MQ=255)                                                                            tCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGATACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCgg                                                               <  1:743443/149‑1 (MQ=255)                                                                            tCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCgg                                                               <  1:298359/149‑1 (MQ=255)                                                                            tCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCgg                                                               <  2:449499/149‑1 (MQ=255)                                                                             cGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCggg                                                              <  1:626959/149‑1 (MQ=255)                                                                                         cTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGAt                                                  >  2:360140/1‑149 (MQ=255)                                                                                            ggCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCGGAAGTTTGt                                               >  1:202370/1‑149 (MQ=255)                                                                                             gCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGAACTGGCACCGGGCGTGCTGAAGAATGtt                                              >  2:524978/1‑149 (MQ=255)                                                                                             gCCTGACAGAAGAANAGAAACANATTNAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGTATCTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGtt                                              <  1:717671/149‑1 (MQ=255)                                                                                               cTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTaa                                            <  1:164269/149‑1 (MQ=255)                                                                                               cTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTaa                                            <  1:149494/149‑1 (MQ=255)                                                                                               cTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACCGAAACACGAGTTCGACAAGAAACTCGAAGCGAAACGCCGCAAAACCACCCAGGGCGACGATCTGGCACCGGGCTTGCTGAAGATTGTTaa                                            <  2:83250/149‑1 (MQ=255)                                                                                                   cAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGta                                        >  2:349903/1‑149 (MQ=255)                                                                                                      aCGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTatat                                     >  1:177727/1‑149 (MQ=255)                                                                                                         aaGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTg                                  >  2:855335/1‑149 (MQ=255)                                                                                                           tagaAACAAAATCAGCTGTAACAGCTGGCTGAGCACTATTACGAACTGAAACACGATTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGc                                <  1:865782/148‑1 (MQ=255)                                                                                                                     aTCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGc                      >  2:148175/1‑149 (MQ=255)                                                                                                                     aTCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGc                      >  1:459665/1‑149 (MQ=255)                                                                                                                     aTCAGCTGGAACAGCTGGCTGAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGc                      <  1:360140/149‑1 (MQ=255)                                                                                                                               aCAGCTGGCTGAGCGCAATGACGAACTGAGACACGAGTTCGAGAATAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCCACGATCTGGCACCGGGCATGCTGAAGATTGTTAAGGTATATCTGGCGATAAAGCCCTGTAGCCAGc            >  2:821444/1‑149 (MQ=255)                                                                                                                                  gctggctgAGCACTATGACGAACGGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGTGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGCCGTATCCAGCCTg         <  1:81468/149‑1 (MQ=255)                                                                                                                                      gctgAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGCCGTATCCAGCCTGGTGa     >  2:812450/1‑149 (MQ=255)                                                                                                                                        tgAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGCCGTATCCAGCCTGGTGACa   >  1:197285/1‑149 (MQ=255)                                                                                                                                         gAGCACTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGCCGTATCCAGCCTGGTGACaa  <  1:148175/149‑1 (MQ=255)                                                                                                                                              |                                                                                                                                                TCTGTTCAGCCGTATCCGTGCTGTGCTGGTAGCCGGTGGCGTTGAAGCTGAGAAGCTCGACAAACTGCCGCGCGATCGCTGGCTGGAGCTGGGCCTGACAGACGAAGAGAAACAAAATCAGCTGGAACAGCTGGCTGAGCAGTATGACGAACTGAAACACGAGTTCGAGAAGAAACTCGAAGCGAAACGCCGCAAAATCACCCAGGGCGACGATCTGGCACCGGGCGTGCTGAAGATTGTTAAGGTATATCTGGCGGTTAAACGCCGTATCCAGCCTGGTGACAA  >  NC_000913_3_hsa_tpiA/4184136‑4184420

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑