Predicted mutation
evidence	seq id	position	mutation	freq	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	2,976,684	G→T	9.6%	S29I (AGC→ATC)	galR →	galactose‑inducible d‑galactose regulon transcriptional repressor; autorepressor

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	2,976,684	0	G	T	9.6%	127.9 / 3.0	49	S29I (AGC→ATC)	galR	galactose‑inducible d‑galactose regulon transcriptional repressor; autorepressor
Reads supporting (aligned to +/- strand):  ref base G (24/20);  new base T (2/3);  total (26/23)
Fisher's exact test for biased strand distribution p-value = 6.55e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.95e-01

GAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGATGTTTCCGATCCGTTTTTCGGTGCAATGGTG  >  NC_000913_3_hsa_tpiA/2976536‑2976832                                                                                                                                                     |                                                                                                                                                      gAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCCTGGCCACCATAAAGGATGTAGCCCGACTGACAGGCGTTGCAGTCGCCACCCTTTCCCGCGTCATTAATAATTCACCCAAAGCCAg                                                                                                                                                       >  2:359976/1‑149 (MQ=255) gAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAg                                                                                                                                                       <  2:31017/149‑1 (MQ=255)  aaCCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGc                                                                                                                                                      <  1:140578/149‑1 (MQ=255)     cAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGACCGACTGGCAAGCGTATCAGTAGCCGCCCTGTCCCCCGACCTTAATAATTACCCCCAACCCCGCGac                                                                                                                                                   >  2:73912/1‑148 (MQ=255)                ttCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCggct                                                                                                                                        <  1:168981/149‑1 (MQ=255)                     tAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGgctggctg                                                                                                                                   >  1:684467/1‑149 (MQ=255)                       acacTGAAAGAATGTAAGCGTTTAACCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAAGCGTTGCAGTCGCTACCGTTGCTCGCGTCATTAATAATTCACCCACAGCCAGCGCAGCTTCCCggctgggcgta                                                                                                                                 >  2:422765/1‑144 (MQ=255)                         accgAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATCGCGACCATAAACGATGTACCCCGACGCGCAGTCGTCTCAGTCGCCACCGTCTCCCGCAGCAATAATAATTCACTCACAGCCATCGAACCTTCCCGCCTGCCTGTGCa                                                                                                                               >  2:316933/4‑149 (MQ=255)                           tGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATa                                                                                                                             >  2:376242/1‑149 (MQ=255)                               aGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGc                                                                                                                         >  1:562823/1‑149 (MQ=255)                                   tGTAAGCCTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGACAGACGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCATCGAAGCTTCCTGGCTGGCTGTGCATAGTGCAATg                                                                                                                     <  2:641654/149‑1 (MQ=255)                                     tAAGTGGTTACCCCCTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGa                                                                                                                   <  2:625308/149‑1 (MQ=255)                                     tAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATACCGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGa                                                                                                                   <  1:650990/149‑1 (MQ=255)                                     tAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCCCCGTTTCCCGCGTCATTCATCATTGACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATCGTGGCATGGa                                                                                                                   >  1:65344/1‑149 (MQ=255)                                     tAAGCGTTTACCCACTAAGGTATTTGCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGa                                                                                                                   <  1:425072/149‑1 (MQ=255)                                      aaGCGTTTACCGACTAAGGTATTCTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAg                                                                                                                  <  1:375110/149‑1 (MQ=255)                                       aGCGTTTACCCACTGAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGt                                                                                                                 <  1:97515/149‑1 (MQ=255)                                       aGCGTGTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGt                                                                                                                 <  1:19689/149‑1 (MQ=255)                                           tttGCCCACGAGGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTctct                                                                                                             <  2:145410/149‑1 (MQ=255)                                           tttACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTctct                                                                                                             >  2:415896/1‑149 (MQ=255)                                           tttACCCACTAAGGTATTTTCATGGAGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTctct                                                                                                             >  1:528168/1‑149 (MQ=255)                                              aCCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCACAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCGATGGAGTCTCTTAg                                                                                                          >  1:123532/1‑149 (MQ=255)                                              aCCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAg                                                                                                          <  1:437365/149‑1 (MQ=255)                                                ccACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTTGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCt                                                                                                        >  1:446614/1‑149 (MQ=255)                                                      aGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCAcc                                                                                                  <  2:177195/149‑1 (MQ=255)                                                         tATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGa                                                                                               >  1:591021/1‑149 (MQ=255)                                                          aTTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCATCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGaa                                                                                              <  1:270650/149‑1 (MQ=255)                                                                aTGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTCCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGaacgccaa                                                                                        <  1:108712/149‑1 (MQ=255)                                                                          tAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTgcg                                                                              >  1:652415/1‑149 (MQ=255)                                                                          tAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACACCAACGCCCGTgcg                                                                              >  1:623827/1‑149 (MQ=255)                                                                                    aGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCgcagc                                                                   <  1:432419/149‑1 (MQ=255)                                                                                       ccGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGa                                                                <  1:196832/149‑1 (MQ=255)                                                                                        cGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTCCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGAc                                                               <  2:684467/149‑1 (MQ=255)                                                                                            tGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACt                                                           >  1:260884/1‑149 (MQ=255)                                                                                              gCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTGGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGa                                                         >  1:184028/1‑149 (MQ=255)                                                                                              gCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGa                                                         >  1:298757/1‑149 (MQ=255)                                                                                                 ggCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑CGGCGCCGCAGACCACTGAAAc                                                      >  2:186534/1‑149 (MQ=255)                                                                                                  gCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGAAAcg                                                     >  2:602784/1‑149 (MQ=255)                                                                                                        cAGTAGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGATGGCTGTGCATAGTGCAATGAAGTCTCTTAGCTATCACCCGCACGCCAACGCCCGT‑CGCATGGCGCAGAAGCCCACTGGAAcggtcggt                                               >  2:25651/1‑149 (MQ=255)                                                                                                         aGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGAAACggtcggtc                                              >  2:125147/1‑149 (MQ=255)                                                                                                          gTCGCGACTGGTCCCTGCGTTATTAATCATTCACTCAAAGCCAGCGAAGCTTCCCGGGTGGCTGTGCTTAGTGCAATGGAGCCTCTTAGTTATCACCCGAACGCCAACGCCCGTGCGC‑GGGCGCGCCAGACCACTCAAAcggtagctac                                             <  2:607957/149‑7 (MQ=255)                                                                                                           tCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGGGC‑TGGCGCCGCAGACCACTGACACGGTCGGCCTg                                            >  2:341525/1‑149 (MQ=255)                                                                                                            cGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGAAACggtcggtccgc                                           <  2:296277/149‑4 (MQ=255)                                                                                                            acccACCGTTCCACGCGTGATTAATAATTCACCAAGAGCCAGCGAAGCTTCCCGGCGGGCTGTGCATAGTGCAATGGAGTCTATTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGAAACGGTCGGTCTgg                                           <  2:245688/147‑1 (MQ=255)                                                                                                              ccACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTc                                         >  2:299546/1‑149 (MQ=255)                                                                                                                        ccGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCAGGCTGGCTGTGCGTAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGGCGCAGACAACTGAAAAGGTCGGTCTGGTCGTTGGTGATg                               >  1:454459/1‑149 (MQ=255)                                                                                                                                ttAATAATTCACCCAAAGCCATCGATGCTTCCCGGCTGGCTGTGCAAAGTGCAATGGAGTCTCTTAGATATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGAAACGGTCGATCTGGTCGTTGGTGATGTCTCCGAt                       >  1:629125/1‑149 (MQ=255)                                                                                                                                  aataagTCACCCAAAGCCATCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGATGTTTCCGATcc                     <  1:284021/149‑1 (MQ=255)                                                                                                                                          aCCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGATGTTTCCGATCCGTTTTTCg             <  1:415896/149‑1 (MQ=255)                                                                                                                                                  ccAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGATGTTTCCGATCCGTTTTTCGGTGCAATg     <  1:460085/149‑1 (MQ=255)                                                                                                                                                    aGCGAACCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACACGAACGCCAACGCCCGTGCGC‑TGGCGCAGCGGACCACTGAAACGGTCGGTCTGGGCGTTGGTGGGGTTTCCGATCCGTTTTTCGGTGAAATGGt   >  2:294325/1‑149 (MQ=255)                                                                                                                                                     gCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGATGTTTCCGATCCGTTTTTCGGTGCAATGGTg  >  1:192966/1‑149 (MQ=255)                                                                                                                                                     gCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGACCGTGCGC‑TGGCGCAGCAGACCACTGAAACGGTCGGCGTGGTCGTTGGGGATGTTTCCGACGCGTTTTTCGCTGCAATgggg  >  2:227359/1‑147 (MQ=255)                                                                                                                                                     |                                                                                                                                                      GAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGC‑TGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGATGTTTCCGATCCGTTTTTCGGTGCAATGGTG  >  NC_000913_3_hsa_tpiA/2976536‑2976832

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑