Supporting Information

Table S1. Primers used for mitochondrial genome amplification.

Fragments / Primers sequences / Size (bp) / Annealing temperature (°C)
Fragment I / F: AGAACACTACGAGCCACAG
R: GATGAGATATTTGGAGGTGGG / 7.500 / 56
Fragment II / F: TACTCCCGATTGAAGCCCCCATTC
R: CAGTTCACTTTAGCTACCCCCAAG / 8.500 / 62
Fragment III / F: CCTCCCTGACAAGCGCCTATAGC
R: CTTTGGCTCTCCTTGCAAAGT / 4.919 / 60

Table S2. Primers used in quantitative PCR for mtDNA relative copy number.

Primers / Primers sequences / Annealing temperature (°C) / Size (bp)
Mt / F: TCTCCATCTATTGATGAGGGTCT / 59°C / 183
R: TGTAGCCGTTGAGTTGTGGT
TUBB / F: TCAACACCTTCTTCAGTGAAACG / 59°C / 241
R: AGTGCCAGTGCGAACTTCATC

Table S3. List of mutations found in mtDNA of colorectal patients.

Gene / Nucleotide Change / Amino acid change / Heteroplasmy / Classification
D-loop / m.59T>C / --- / HM / Germinative mutation
D-loop / m.64C>T / --- / HM / Germinative mutation
D-loop / m.66G>T / --- / 52.0 / Somatic mutation- Adenoma
D-loop / m.72T>C / --- / HM / Germinative mutation
D-loop / m.73A>G / --- / HM / Germinative mutation
D-loop / m.125T>C / --- / HM / Germinative mutation
D-loop / m.127T>C / --- / HM / Germinative mutation
D-loop / m.128C>T / --- / HM / Germinative mutation
D-loop / m.143G>A / --- / HM / Germinative mutation
D-loop / m.146T>C / --- / HM / Germinative mutation
D-loop / m.150C>A / --- / HM / Germinative mutation
D-loop / m.152T>C / --- / HM / Germinative mutation
D-loop / m.153A>G / --- / HM / Germinative mutation
D-loop / m.194C>T / --- / HM / Germinative mutation
D-loop / m.195T>C / --- / HM / Germinative mutation
D-loop / m.207G>A / --- / HM / Germinative mutation
D-loop / m.210A>G / --- / HM / Germinative mutation
D-loop / m.228G>A / --- / HM / Germinative mutation
D-loop / m.235A>G / --- / HM / Germinative mutation
D-loop / m.247delA / --- / HM / Somatic mutation- Blood
D-loop / m.263A>G / --- / HM / Germinative mutation
D-loop / m.285C>T / --- / HM / Germinative mutation
D-loop / m.297A>G / --- / HM / Germinative mutation
D-loop / m.308ins / --- / HM / Somatic mutation- Adenoma and Adenocarcinoma
D-loop / m.309ins / --- / HM / Somatic mutation- Adenocarcinoma
D-loop / m.385A>G / --- / HM / Germinative mutation
D-loop / m.460T>C / --- / HM / Somatic mutation- Blood
D-loop / m.489T>C / --- / HM / Somatic mutation- Blood
D-loop / m.499G>A / --- / HM / Somatic mutation- Adenocarcinoma
D-loop / m.501C>T / --- / HM / Blood-Adenocarcinoma
D-loop / m.567insCC / --- / HM / Somatic mutation- Adenoma
MT-RNR1 / m.663A>G / --- / HM / Germinative mutation
MT-RNR1 / m.750A>G / --- / HM / Germinative mutation
MT-RNR1 / m.756C>T / --- / HM / Germinative mutation
MT-RNR1 / m.769G>A / --- / HM / Germinative mutation
MT-RNR1 / m.827A>G / --- / HM / Somatic mutation- Adenoma
MT-RNR1 / m.1018G>A / --- / HM / Germinative mutation
MT-RNR1 / m.1438A>G / --- / HM / Germinative mutation
MT-RNR2 / m.1736A>G / --- / HM / Germinative mutation
MT-RNR2 / m.2065A>G / --- / HM / Somatic mutation- Adenocarcinoma
MT-RNR2 / m.2092C>T / --- / HM / Germinative mutation
MT-RNR2 / m.2128G>A / --- / 18.87 / Somatic mutation- Adenocarcinoma
MT-RNR2 / m.2218C>T / --- / HM / Germinative mutation
MT-RNR2 / m.2313A>G / --- / 23.78 / Somatic mutation- Blood
MT-RNR2 / m.2416T>C / --- / HM / Germinative mutation
MT-RNR2 / m.2535A>G / --- / 15.65 / Somatic mutation- Blood
MT-RNR2 / m.2571G>A / --- / 74.59 / Somatic mutation- Adenocarcinoma
MT-RNR2 / m.2706A>G / --- / HM / Germinative mutation
MT-RNR2 / m.2789C>T / --- / 65.64 / Somatic mutation- Adenocarcinoma
MT-RNR2 / m.3010G>A / --- / HM / Germinative mutation
MT-RNR2 / m.3105insC / --- / HM / Somatic mutation- Blood
MT-tRNA / m.3243A>G / --- / HM / Germinative mutation
MT-ND1 / m.3423G>T / p.V39V / HM / Germinative mutation
MT-ND1 / m.3535T>C / p.L77L / HM / Germinative mutation
MT-ND1 / m.3547A>G / p.I81V / HM / Germinative mutation
MT-ND1 / m.3591G>A / p.L95L / HM / Germinative mutation
MT-ND1 / m.3594C>T / p.V96V / HM / Somatic mutation- Adenocarcinoma
MT-ND1 / m.3910G>A / p.E202K / HM / Germinative mutation
MT-ND1 / m.3995A>C / p.N230T / HM / Germinative mutation
MT-ND1 / m.4104A>G / p.L266L / HM / Germinative mutation
MT-ND1 / m.4248T>C / p.I314I / HM / Germinative mutation
MT-tRNA / m.4314delA / --- / HM / Somatic mutation- Adenocarcinoma
MT-ND2 / m.4715A>G / p.G82G / HM / Germinative mutation
MT-ND2 / m.4769A>G / p.M100M / HM / Germinative mutation
MT-ND2 / m.4793A>G / p.M108M / HM / Germinative mutation
MT-ND2 / m.4820G>A / p.E117E / HM / Germinative mutation
MT-ND2 / m.4824A>G / p.T119A / HM / Germinative mutation
MT-ND2 / m.4831G>A / p.G121D / HM / Somatic mutation- Adenocarcinoma
MT-ND2 / m.4868A>G / p.W133W / 83.58 / Somatic mutation- Adenocarcinoma
MT-ND2 / m.4883C>T / p.P138P / HM / Germinative mutation
MT-ND2 / m.4977T>A / p.L170L / HM / Germinative mutation
MT-ND2 / m.4977T>C / p.L170L / HM / Somatic mutation- Adenoma
MT-ND2 / m.4985G>A / p.Q172Q / HM / Germinative mutation
MT-ND2 / m.4991G>A / p.Q174Q / HM / Germinative mutation
MT-ND2 / m.5147G>A / p.T226T / HM / Germinative mutation
MT-ND2 / m.5178C>A / p.L237M / HM / Germinative mutation
MT-ND2 / m.5249T>C / p.F260F / HM / Germinative mutation
MT-ND2 / m.5480A>G / p.L337L / HM / Germinative mutation
MT-tRNA / m.5669G>A / --- / HM / Somatic mutation- Adenocarcinoma
MT-tRNA / m.5692T>C / --- / 50.38 / Somatic mutation- Blood
MT-tRNA / m.5768G>A / --- / HM / Germinative mutation
MT-COX1 / m.6026G>A / p.L41L / HM / Germinative mutation
MT-COX1 / m.6095A>G / p.V34V / 5.46 / Somatic mutation- Blood
MT-COX1 / m.6473C>T / p.I190I / HM / Germinative mutation
MT-COX1 / m.6779A>G / p.M292M / HM / Germinative mutation
MT-COX1 / m.6816ins / F305Lfs*18 / HM / Somatic mutation- Adenocarcinoma
MT-COX1 / m.6817T>C / p.F305S / HM / Somatic mutation- Adenocarcinoma
MT-COX1 / m.7028C>T / p.A375A / HM / Germinative mutation
MT-COX1 / m.7175T>C / p.T424T / HM / Germinative mutation
MT-COX1 / m.7196C>A / p.L431L / HM / Germinative mutation
MT-COX1 / m.7256C>T / p.N451N / HM / Somatic mutation- Adenocarcinoma
MT-COX1 / m.7274C>T / p.G457G / HM / Germinative mutation
MT-tRNA / m.7521G>A / --- / HM / Germinative mutation
MT-tRNA / m.7523A>T / --- / HM / Somatic mutation- Blood
MT-tRNA / m.7581T>C / --- / HM / Germinative mutation
MT-COX2 / m.7697G>A / p.V38A / HM / Germinative mutation
MT-COX2 / m.7771A>G / p.E62E / HM / Germinative mutation
MT-COX2 / m.7910G>A / p.E109K / 91.89 / Somatic mutation- Adenocarcinoma
MT-COX2 / m.8027G>A / p.A148T / HM / Germinative mutation
MT-COX2 / m.8206G>A / p.M207M / HM / Germinative mutation
MT-COX2 / m.8222T>C / p.L213L / HM / Germinative mutation
MT-NC7 / m.8281del / --- / HM / Germinative mutation
MT-ATP8 / m.8381A>G / p.T6A / HM / Germinative mutation
MT-ATP8 / m.8414C>T / p.L17F / HM / Germinative mutation
MT-ATP6 / m.8573G>A / p.G16D / HM / Germinative mutation
MT-ATP6 / m.8584G>A / p.A20T / HM / Germinative mutation
MT-ATP6 / m.8701A>G / p.T59A / HM / Germinative mutation
MT-ATP6 / m.8794C>T / p.H90Y / HM / Germinative mutation
MT-ATP6 / m.8860A>G / p.T112A / HM / Germinative mutation
MT-ATP6 / m.8911T>C / p.L129L / 4.39 / Somatic mutation- Adenoma
MT-COX3 / m.9221A>G / p.S5S / HM / Germinative mutation
MT-COX3 / m.9540T>C / p.L112L / HM / Germinative mutation
MT-COX3 / m.9545del / G113Efs*12 / 74.71 / Somatic mutation- Adenoma and Adenocarcinoma
MT-COX3 / m.9545A>G / p.G113G / HM / Germinative mutation
MT-COX3 / m.9559G>C / p.P118R / HM / Germinative mutation
MT-COX3 / m.9698T>C / p.L164L / HM / Germinative mutation
MT-COX3 / m.9950T>C / p.V248V / HM / Germinative mutation
MT-ND3 / m.10115T>C / p.I19I / HM / Germinative mutation
MT-ND3 / m.10398A>G / p.T114A / HM / Germinative mutation
MT-ND3 / m.10400C>T / p.T114T / HM / Germinative mutation
MT-tRNA / m.10406G>A / --- / 44.3 / Somatic mutation- Adenocarcinoma
MT-ND4 / m.10570A>T / p.E34K / 20.63 / Somatic mutation- Adenocarcinoma
MT-ND4 / m.10873T>C / p.P38P / HM / Germinative mutation
MT-ND4 / m.11150G>A / p.A131T / HM / Germinative mutation
MT-ND4 / m.11177C>T / p.P140S / HM / Germinative mutation
MT-ND4 / m.11260T>C / p.T167T / HM / Germinative mutation
MT-ND4 / m.11335T>C / p.N192N / HM / Germinative mutation
MT-ND4 / m.11435G>A / p.A226T / HM / Somatic mutation- Adenoma
MT-ND4 / m.11651G>A / p.V297M / HM / Somatic mutation- Adenocarcinoma
MT-ND4 / m.11719G>A / p.G320G / HM / Germinative mutation
MT-ND4 / m.11914G>A / p.T385T / HM / Germinative mutation
MT-ND4 / m.11944T>C / p.L395L / HM / Germinative mutation
MT-ND4 / m.11992T>C / p.F411F / HM / Germinative mutation
MT-ND4 / m.12007G>A / p.W416W / HM / Germinative mutation
MT-tRNA / m.12308A>G / --- / HM / Germinative mutation
MT-ND5 / m.12372G>A / p.L12L / HM / Germinative mutation
MT-ND5 / m.12618G>A / p.L94L / HM / Germinative mutation
MT-ND5 / m.12667G>A / p.D111N / 75.00 / Somatic mutation- Adenocarcinoma
MT-ND5 / m.12693A>G / p.K119K / HM / Germinative mutation
MT-ND5 / m.12705C>T / p.I123I / HM / Germinative mutation
MT-ND5 / m.12773G>A / p.G146D / HM / Somatic mutation- Adenocarcinoma
MT-ND5 / m.12843T>C / p.I169I / HM / Germinative mutation
MT-ND5 / m.12879T>C / p.G181G / HM / Germinative mutation
MT-ND5 / m.12880T>C / p.F182L / HM / Germinative mutation
MT-ND5 / m.13042G>A / p.A236T / HM / Somatic mutation- Adenocarcinoma
MT-ND5 / m.13104A>G / p.G256G / HM / Germinative mutation
MT-ND5 / m.13153A>G / p.I273V / 92.41 / Somatic mutation- Adenocarcinoma
MT-ND5 / m.13263A>G / p.Q309Q / HM / Germinative mutation
MT-ND5 / m.13422A>G / p.L362L / HM / Germinative mutation
MT-ND5 / m.13590G>C / p.L418L / 95.24 / Germinative mutation
MT-ND5 / m.13593A>G / p.T419R / HM / Germinative mutation
MT-ND5 / m.13597G>A / p.G421A / HM / Somatic mutation- Adenoma
MT-ND5 / m.13650C>T / p.P438P / HM / Germinative mutation
MT-ND5 / m.13702G>C / p.R456G / HM / Germinative mutation
MT-ND5 / m.13803A>G / p.T489T / HM / Germinative mutation
MT-ND5 / m.14070A>G / p.S578S / HM / Germinative mutation
MT-ND5 / m.14094T>C / p.L586L / HM / Germinative mutation
MT-ND5 / m.14110T>C / p.F592L / 23.71 / Germinative mutation
MT-ND6 / m.14199G>T / p.T159P / HM / Germinative mutation
MT-ND6 / m.14272G>C / p.L134F / HM / Blood-Adenocarcinoma
MT-ND6 / m.14318T>C / p.N119S / HM / Somatic mutation- Adenocarcinoma
MT-ND6 / m.14364G>A / p.L104L / HM / Germinative mutation
MT-ND6 / m.14365G>C / p.V103V / HM / Germinative mutation
MT-ND6 / m.14368G>C / p.L102F / HM / Germinative mutation
MT-ND6 / m.14566A>G / p.G36G / HM / Germinative mutation
MT-ND6 / m.14668C>T / p.M2M / HM / Germinative mutation
MT-CYB / m.14766T>C / p.T7I / HM / Germinative mutation
MT-CYB / m.14783T>C / p.L13L / HM / Germinative mutation
MT-CYB / m.14962C>T / p.D72D / HM / Germinative mutation
MT-CYB / m.14971T>C / p.Y75Y / 93.53 / Somatic mutation- Adenocarcinoma
MT-CYB / m.15043G>A / p.G99G / HM / Germinative mutation
MT-CYB / m.15062T>C / p.S106P / 8.08 / Somatic mutation- Adenoma
MT-CYB / m.15106G>A / p.L120L / HM / Germinative mutation
MT-CYB / m.15110G>A / p.A122T / HM / Germinative mutation
MT-CYB / m.15148G>A / p.P134P / HM / Germinative mutation
MT-CYB / m.15217G>A / p.G157G / HM / Germinative mutation
MT-CYB / m.15276G>A / p.R177Q / HM / Somatic mutation- Adenocarcinoma
MT-CYB / m.15282T>C / p.F179S / 59.68 / Somatic mutation- Adenoma
MT-CYB / m.15301G>A / p.L185L / HM / Germinative mutation
MT-CYB / m.15314G>A / p.A190T / HM / Germinative mutation
MT-CYB / m.15326A>G / p.T194A / HM / Germinative mutation
MT-CYB / m.15487A>T / p.P247P / HM / Germinative mutation
MT-CYB / m.15535A>G / p.N263N / HM / Germinative mutation
MT-CYB / m.15628A>G / p.L294L / HM / Germinative mutation
MT-CYB / m.15762G>A / p.G339E / 61.11 / Somatic mutation- Adenoma
MT-CYB / m.15784T>C / p.P346P / HM / Germinative mutation
MT-CYB / m.15826A>G / p.T360T / HM / Germinative mutation
MT-CYB / m.15843T>C / p.M366T / HM / Somatic mutation- Adenocarcinoma
MT-TT / m.15929A>G / --- / HM / Germinative mutation
MT-TT / m.15930G>A / --- / HM / Germinative mutation
MT-NC10 / m.15954A>C / --- / HM / Germinative mutation
D-loop / m.16051A>G / --- / HM / Germinative mutation
D-loop / m.16092T>C / --- / HM / Germinative mutation
D-loop / m.16093T>C / --- / HM / Germinative mutation
D-loop / m.16111C>T / --- / HM / Germinative mutation
D-loop / m.16126T>C / --- / HM / Germinative mutation
D-loop / m.16129G>A / --- / HM / Germinative mutation
D-loop / m.16153G>A / --- / HM / Somatic mutation- Adenocarcinoma
D-loop / m.16169C>T / --- / HM / Germinative mutation
D-loop / m.16183A>C / --- / HM / Germinative mutation
D-loop / m.16189T>C / --- / HM / Somatic mutation- Blood
D-loop / m.16217T>C / --- / HM / Germinative mutation
D-loop / m.16223C>T / --- / HM / Germinative mutation
D-loop / m.16224T>C / --- / HM / Germinative mutation
D-loop / m.16234C>T / --- / HM / Germinative mutation
D-loop / m.16239C>T / --- / HM / Germinative mutation
D-loop / m.16243T>C / --- / HM / Germinative mutation
D-loop / m.16249T>C / --- / HM / Somatic mutation- Blood
D-loop / m.16278C>T / --- / HM / Germinative mutation
D-loop / m.16290C>T / --- / HM / Germinative mutation
D-loop / m.16292C>T / --- / HM / Germinative mutation
D-loop / m.16294C>T / --- / HM / Germinative mutation
D-loop / m.16298T>C / --- / HM / Germinative mutation
D-loop / m.16309A>G / --- / HM / Germinative mutation
D-loop / m.16311T>C / --- / HM / Germinative mutation
D-loop / m.16319G>A / --- / HM / Germinative mutation
D-loop / m.16325T>C / --- / HM / Germinative mutation
D-loop / m.16327C>T / --- / HM / Germinative mutation
D-loop / m.16355C>T / --- / HM / Germinative mutation
D-loop / m.16362T>C / --- / HM / Germinative mutation
D-loop / m.16390G>A / --- / HM / Germinative mutation
D-loop / m.16468T>C / --- / HM / Somatic mutation- Adenoma
D-loop / m.16518delG / --- / 34.9 / Somatic mutation- Blood
D-loop / m.16519T>C / --- / HM / Germinative mutation

HM= Homoplasmic mutation. Revised Cambridge Reference Sequence (rCRS), NC_012920.