Table S3: Mitochondrial DNA (mtDNA) mutations detected by Ion Torrent Next Generation Sequencing in human buccal epithelium MtDNA mutations highlighted in red are present in both buccal and colonic epitheluim in that subject. (Germline Ref) is the reference base for that individual subject which is different from the rCRS rCRS: Revised Cambridge Reference Sequence Participant ID BCC044 BUC BCC044 BUC BCC044 BUC BCC044 BUC BCC044 BUC BCC044 BUC BCC047 BUC BCC047 BUC BCC098 BUC BCC098 BUC BCC098 BUC BCC110 BUC BCC110 BUC BCC110 BUC BCC112 BUC BCC112 BUC BCC112 BUC BCC112 BUC BCC113 BUC BCC113 BUC BCC113 BUC BCC113 BUC BCC113 BUC BCC117 BUC BCC117 BUC BCC117 BUC BCC117 BUC BCC117 BUC BCC117 BUC BCC117 BUC BCC117 BUC BCC165 BUC BCC165 BUC BCC180 BUC BCC180 BUC BCC205 BUC BCC205 BUC BCC205 BUC Age 72 72 72 72 72 72 76 76 17 17 17 24 24 24 25 25 25 25 78 78 78 78 78 25 25 25 25 25 25 25 25 25 25 25 25 23 23 23 Base position 150 152 189 204 7028 14093 234 374 4340 7028 12308 3915 4935 11253 146 8994 14053 14692 185 189 10084 11684 15757 1811 3480 5539 7028 9698 10550 11467 12308 4820 12308 16443 16541 4677 5973 13094 Reference Base(rCRS) C T A T T (Germline Ref) T A A A T (Germline Ref) G (Germline Ref) A (Germline Ref) A C (Germline Ref) T A (Germline Ref) G (Germline Ref) A A (Germline Ref) A C (Germline Ref) T G (Germline Ref) G (Germline Ref) G (Germline Ref) A T (Germline Ref) C (Germline Ref) G (Germline Ref) G (Germline Ref) G (Germline Ref) A (Germline Ref) G (Germline Ref) T A C G T Mutant Base T C G C C C G G G C A G G T C G A G G G T C A A A G C T A A A G A C G T A C Mutant Frequency 72 69 36 22 24 14 283 13 17 20 49 42 12 32 19 27 35 12 91 59 189 38 52 33 12 11 11 9 42 50 58 14 47 19 9 41 94 16 Heteroplasmy 3.25 3.12 1.43 0.88 0.93 0.8 9.67 0.85 0.83 0.86 1.23 1.92 0.8 0.86 0.86 1.07 1.99 0.81 2.67 1.72 3.4 0.9 1.48 1.14 1.31 1.17 0.84 0.9 0.98 1.04 1.33 0.84 1.08 0.81 0.87 1.89 4.4 0.83 Gene Non-Coding Non-Coding Non-Coding Non-Coding MT-CO1 MT-ND5 Non-Coding Non-Coding MT-TQ MT-CO1 MT-TL2 MT-ND1 MT-ND2 MT-ND4 Non-Coding MT-ATP6 MT-ND5 MT-TE Non-Coding Non-Coding MT-ND3 MT-ND4 MT-CYB MT-RNR2 MT-ND1 MT-TW MT-CO1 MT-CO3 MT-ND4L MT-ND4 MT-TL2 MT-ND2 MT-TL2 Non-Coding Non-Coding MT-ND2 MT-CO1 MT-ND5 Amino acid change Silent p.L586P Silent Silent p.T156A Silent Silent Silent Silent p.F309L Silent Silent Silent Silent Silent Silent Silent p.L70F p.A24T p.V253A Reported Polymorphism Yes Yes Yes Yes Yes No Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes No Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes No No No Yes No Participant ID Age Base position Reference Base(rCRS) Mutant Base Mutant Frequency Heteroplasmy Gene BCC213 BUC BCC213 BUC BCC213 BUC BCC213 BUC BCC222BUC BCC222BUC BCC222BUC BCC244 BUC BCC244 BUC BCC244 BUC BCC244 BUC BCC260 BUC BCC260 BUC BCC260 BUC BCC260 BUC BCC260 BUC BCC260 BUC BCC260 BUC BCC260 BUC BCC260 BUC BCC265 BUC BCC265 BUC BCC265 BUC BCC265 BUC BCC265 BUC BCC266 BUC BCC266 BUC BCC266 BUC BCC266 BUC 71 71 71 71 75 75 75 23 23 23 23 71 71 71 71 71 71 71 71 71 73 73 73 73 73 74 74 74 74 152 3424 14858 15456 146 189 215 295 3991 7028 9633 234 7028 9029 12007 13969 15281 16129 16390 16486 204 6371 7028 15454 16223 7028 12880 13935 16290 T G G T T A A T (Germline Ref) A T (Germline Ref) T A T (Germline Ref) A A (Germline Ref) A T A (Germline Ref) A (Germline Ref) A T T (Germline Ref) T (Germline Ref) T T (Germline Ref) T (Germline Ref) T A C C A A C C G G C G C C G C G G G C G G G C C C C C C C G T 23 26 63 16 75 39 38 20 18 21 13 75 23 18 34 16 16 41 22 12 9 26 21 16 12 24 22 16 10 0.94 0.83 4.12 0.87 1.65 0.8 0.85 1.15 0.81 0.81 0.91 4.03 0.82 0.93 1.37 0.98 0.85 1.48 1.09 0.85 0.9 1.15 0.82 0.83 1.03 0.89 0.8 0.81 0.87 Non-Coding MT-ND1 MT-CYB MT-CYB Non-Coding Non-Coding Non-Coding Non-Coding MT-ND1 MT-CO1 MT-CO3 Non-Coding MT-CO1 MT-ATP6 MT-ND4 MT-ND5 MT-CYB Non-Coding Non-Coding Non-Coding Non-Coding MT-CO1 MT-CO1 MT-CYB Non-Coding MT-CO1 MT-ND5 MT-ND5 Non-Coding Amino acid change p.V40M p.G38S p.L237P p.T229A Silent p.S143P Silent p.H168R Silent p.S545G p.F179L Silent Silent Silent Silent p.F182L Silent Reported Polymorphism Yes No Yes No Yes Yes Yes Yes No Yes Yes Yes Yes Yes Yes No No Yes Yes No Yes Yes Yes Yes Yes Yes Yes No Yes
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