Global human frequencies of predicted nuclear pathogenic variants and the role played by protein hydrophobicity in pathogenicity potential
Abstract
Mitochondrial proteins are coded by nuclear (nDNA) and mitochondrial (mtDNA) genes, implying a complex cross-talk between the two genomes. Here we investigated the diversity displayed in 104 nuclear-coded mitochondrial proteins from 1,092 individuals from the 1000 Genomes dataset, in order to evaluate if these genes are under the effects of purifying selection and how that selection compares with their mitochondrial encoded counterparts. Only the very rare variants (frequency < 0.1%) in these nDNA genes are indistinguishable from a random set from all possible variants in terms of predicted pathogenicity score, but more frequent variants display distinct signs of purifying selection. Comparisons of selection strength indicate stronger selection in the mtDNA genes compared to this set of nDNA genes, accounted for by the high hydrophobicity of the proteins coded by the mtDNA. Most of the predicted pathogenic variants in the nDNA genes were restricted to a single continental population. The proportion of individuals having at least one potential pathogenic mutation in this gene set was significantly lower in Europeans than in Africans and Asians. This difference may reflect demographic asymmetries, since African and Asian populations experienced main expansions in middle Holocene, while in Europeans the main expansions occurred earlier in the post-glacial period.
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Global human frequencies of predicted nuclear pathogenic variants and the role played by protein hydrophobicity in pathogenicity potential Luísa Pereira,1,2* Pedro Soares,1 Petr Triska,1,3 Teresa Rito,1 Agnes van der Waerden,1 Biao Li,4 Predrag Radivojac,4 and David C. Samuels5 Contents List of Figures List of Tables Results 1Correlations for the averages of MutPred and hydrophobicity values per protein 2Comparison between pathogenicity predictors 3Comparison between hydrophobicity measures 4Evaluating hydrophobicity influence at amino acid level
List of Figures Figure S1. Correlation for the averages of MutPred and hydrophobicity values per protein in nDNA and mtDNA coded proteins. Figure S2. Correlation for the averages of MutPred and hydrophobicity values per protein in mtDNA coded proteins. Figure S3. Correlation for the averages of MutPred and hydrophobicity values per protein in mtDNA coded proteins except ATP8. Figure S4. Correlation for the averages of MutPred and hydrophobicity values per protein in nDNA coded proteins. Figure S5. Correlation for the averages of MutPred and hydrophobicity values per protein in nDNA coded proteins without highly hydrophobic. Figure S6. Correlation for the averages of MutPred and hydrophobicity values per protein in highly hydrophobic nDNA coded proteins. Figure S7. Correlation for the averages of MutPred and hydrophobicity values per protein in highly hydrophobic nDNA and mtDNA coded proteins. Figure S8. Comparison between MutPred and PolyPhen pathogenicity scores in the observed dataset. Figure S9. Comparison between MutPred and SIFT pathogenicity scores in the observed dataset. Figure S10. Correlation between MutPred and SIFT pathogenicity average scores per protein based on all possible non-synonymous mutations. Figure S11. Assessing hydrophobicity influence at the protein and amino acid level, using H17 measure (the maximal local hydrophobicity of a segment) Average pathogenicity score per nDNA and mtDNA coded proteins. Figure S12. Assessing hydrophobicity influence at the protein and amino acid level, using mesohydrophobicity measure (the average regional hydrophobicity over an extended region of the sequence) and KD scale Average pathogenicity score per nDNA and mtDNA coded proteins. Figure S13. Assessing hydrophobicity influence at the protein and amino acid level, using mesohydrophobicity measure (the average regional hydrophobicity over an extended region of the sequence) and ECS scale Average pathogenicity score per nDNA and mtDNA coded proteins.
Figure S14. Assessing hydrophobicity influence at the amino acid level (A) Frequency of amino acids. (B) Average pathogenicity score across amino acids in the nDNA encoded proteins. Amino acids ordered from lower to higher hydrophobicity. List of Tables Table S1The 104 nuclear genes encoding mitochondrial proteins, their function, location in the genome and information on the transcript used. Table S2Observed non-synonymous mutations in 1,092 individuals (246 are from Africans including Afro-Americans, 379 Europeans, 286 Asians and 181 Americans) from the 1000 Genomes dataset and MutPred, PolyPhen and SIFT pathogenicity scores (and the majority vote from pathogenicity scores). Table S3Observed non-synonymous mutations in 1,092 individuals (246 are from Africans including Afro-Americans, 379 Europeans, 286 Asians and 181 Americans) from the 1000 Genomes dataset and frequencies and p-values of Hardy-Weinberg equilibrium test (overall and per population group when overall was significant). Table S4GeneBank accession numbers of mtDNA sequences used. Table S5ProtParam data (from ExPASy) in the mtDNA and nDNA coded genes. Table S6List of individuals from 1000 Genomes dataset bearing non-synonymous mutations in the 104 nDNA genes, when using a conservative classification (putative pathogenic according to the major voting system of the three pathogenicity scores, in HW equilibrium, and a global frequency higher than 0.5%). Table S7Mutations in the 104 nDNA genes reported in OMIM dataset. Table S8Mutations in the 104 nDNA genes reported in COSMIC dataset.
Results 1Correlations for the averages of MutPred and hydrophobicity values per protein We checked the correlations for the averages of MutPred and hydrophobicity values per protein both in mtDNA and nDNA coded proteins (Figures S1-S7). The values of r2 were: 0.177 (positive correlation) with all proteins together; 0.085 (negative correlation) for mtDNA; 0.088 (positive) for nDNA; 0.433 (negative) for mtDNA without ATP8; 0.132 for nDNA (positive) without values of hydrophobicity higher than 0.377; 0.797 (negative) for nDNA highly hydrophobic; and 0.010 (slightly negative) for nDNA and mtDNA highly hydrophobic. It seems that there is a tendency for a positive correlation between MutPred and hydrophobicity when values of the hydrophobicity are not extremely high, and then an inversion in the tendency. As the number of proteins in this upper extreme of the hydrophobicity scale is low (the 12 mtDNA and five nDNA – ATP5G1, ATP5G2, ATP5G3, SDHC and SDHD), this inversion must be taken with caution. Especially so because even for the low hydrophobic range of the dataset, the variation of values is very high, rendering the correlation to be low. Figure S1. Correlation for the averages of MutPred and hydrophobicity values per protein in nDNA and mtDNA coded proteins. R² = 0.177 -1.5 -1 -0.5 0 0.5 1 1.5 0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 0.8 Average Protein Hydrophobicity Average MutPred Pathogenicity Score All together
Figure S2. Correlation for the averages of MutPred and hydrophobicity values per protein in mtDNA coded proteins. Figure S3. Correlation for the averages of MutPred and hydrophobicity values per protein in mtDNA coded proteins except ATP8. R² = 0.085 -0.6 -0.4 -0.2 0 0.2 0.4 0.6 0.8 1 1.2 1.4 0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 0.8 Average Protein Hydrophobicity Average MutPred Pathogenicity Score mtDNA R² = 0.433 0 0.2 0.4 0.6 0.8 1 1.2 1.4 0.58 0.6 0.62 0.64 0.66 0.68 0.7 Average Protein Hydrophobicity Average MutPred Pathogenicity Score mtDNA without ATP8
Figure S4. Correlation for the averages of MutPred and hydrophobicity values per protein in nDNA coded proteins. Figure S5. Correlation for the averages of MutPred and hydrophobicity values per protein in nDNA coded proteins without highly hydrophobic. R² = 0.088 -1.5 -1 -0.5 0 0.5 1 0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 Average Protein Hydrophobicity Average MutPred Pathogenicity Score nDNA R² = 0.132 -1.4 -1.2 -1 -0.8 -0.6 -0.4 -0.2 0 0.2 0.4 0.6 0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 Average Protein Hydrophobicity Average MutPred Pathogenicity Score nDNA without highly hydrophobic
Figure S6. Correlation for the averages of MutPred and hydrophobicity values per protein in highly hydrophobic nDNA coded proteins. Figure S7. Correlation for the averages of MutPred and hydrophobicity values per protein in highly hydrophobic nDNA and mtDNA coded proteins. 2Comparison between pathogenicity predictors We compared results from MutPred, PolyPhen and SIFT scores in the observed dataset of non-synonymous mutations, in order to ascertain about its concordance. As can be seen in Figures S8 and S9, there is a good correlation between MutPred and the other two pathogenecity scores, especially so with SIFT. The bigger discrepancies are for the R² = 0.797 0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 0.8 0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 Average Protein Hydrophobicity Average MutPred Pathogenicity Score nDNA highly hydrophobic R² = 0.010 0 0.2 0.4 0.6 0.8 1 1.2 1.4 0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 0.8 Average Protein Hydrophobicity Average MutPred Pathogenicity Score nDNA and mtDNA highly hydrophobic
way mutations occurring in the first codon of the proteins are interpreted, being considered deleterious in MutPred and SIFT and benign in Polyphen. But as even so, for some SNVs there are discrepancies between the predictors, in the comparison between the distributions of potential pathogenic SNVs in these nuclear genes across global human populations, for which we wanted to be conservative, we decided for a major vote between the three classifiers, MutPred, SIFT and PolyPhen (reported in Table S2). 0 20 40 60 80 100 <0.6 0.6 to 0.7 % of Variants in MutPred Category MutPred Pathogenicity Scores Probably Damaging Possibly Damaging Benign Unknown >0.7 (A) PolyPhen Figure S8. Comparison between MutPred and PolyPhen pathogenicity scores. 0 20 40 60 80 100 <0.6 0.6 to 0.7 >0.7 % of Variants in MutPred Category MutPred Pathogenicity Scores Deleterious Tolerated No Score (b) SIFT Figure S9. Comparison between MutPred and SIFT pathogenicity scores.
We also ascertained if the MutPred prediction for all theoretical values in the nDNA and mtDNA coded proteins is correlated (R2=0.143) with the values predicted by SIFT (Figure S10). Of course the correlation is negative, as in MutPred the highest pathogenic values are close to 1, while in SIFT are closer to 0. Figure S10. Correlation between MutPred and SIFT pathogenicity average scores per protein based on all possible non-synonymous mutations. 3Comparison between hydrophobicity measures We tested several measures of hydrophobicity and several scales, and confirmed that results follow always the same pattern (Figures S11-S13). R² = 0.143 0 0.05 0.1 0.15 0.2 0.25 0.3 0.35 0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 0.8 SIFT MutPred MutPred vs SIFT
NDUFV1 complex I 11 67374323-67380006 5684 forward ENST00000322776 29 10 1596 464 CCDS8173 NDUFV2 complex I 18 9102628-9134343 31716 forward ENST00000318388 7 8 930 249 CCDS11842 NDUFV3 complex I 21 44299754-44329783 30030 forward ENST00000354250 5 4 1575 473 CCDS33572 NT5M Fission 17 17206649-17250977 44329 forward ENST00000446264 6 5 1615 239 OPA1 Fusion 3 193310933-193415612 104680 forward ENST00000361908 19 30 6439 997 CCDS33917 OPA3 Role in mitochondrial processes 19 46030685-46105470 74786 reverse ENST00000263275 3 2 7871 179 CCDS12668 PEO1 TWINLKE helicase 10 102747124-102754158 7035 forward ENST00000311916 5 5 3131 684 CCDS7506 PINK1 Cellular stress 1 20959948-20978004 18057 forward ENST00000321556 3 8 2660 581 CCDS211 POLG Polimerase 15 89859534-89878092 18559 reverse ENST00000268124 13 23 4502 1239 CCDS10350 POLG2 Polimerase 17 62473904-62493184 19281 reverse ENST00000539111 1 8 1592 485 CCDS32706 POLRMT Transcription 19 617223-633568 16346 reverse ENST00000215591 1 21 3800 1230 CCDS12036 SDHA complex II 5 218356-256815 38460 forward ENST00000264932 22 15 2390 664 CCDS3853 SDHB complex II 1 17345217-17380665 35449 reverse ENST00000375499 8 8 1153 280 CCDS176 SDHC complex II 1 161284047-161332984 48938 forward ENST00000367975 9 5 1127 169 CCDS1230 SDHD complex II 11 111957497-111990353 32857 forward ENST00000375549 8 4 1439 159 CCDS31678 SSBP1 Replication 7 141438121-141487722 49602 forward ENST00000265304 14 7 687 148 CCDS5866 TFAM Transcription 10 60144782-60158981 14200 forward ENST00000487519 4 6 5414 246 TK2 DNA synthesis 16 66541906-66584315 42410 reverse ENST00000451102 8 10 3738 265 CCDS10805 UCP1 mitochondrial transporter protein 4 141480588-141489959 9372 reverse ENST00000262999 1 6 1462 307 CCDS3753 UCP2 mitochondrial transporter protein 11 73685712-73694352 8641 reverse ENST00000310473 10 8 2113 309 CCDS8228
UCP3 mitochondrial transporter protein 11 73711326-73720480 9155 reverse ENST00000314032 5 7 2623 312 CCDS8229 UQCRB complex III 8 97238148-97247862 9715 reverse ENST00000287022 9 4 5575 111 CCDS6269 UQCRC1 complex III 3 48636435-48648409 11975 reverse ENST00000203407 10 13 1985 480 CCDS2774 UQCRC2 complex III 16 21963981-21994981 31001 forward ENST00000268379 1 14 2615 453 CCDS10601 UQCRFS1 complex III 19 29698167-29704136 5970 reverse ENST00000304863 1 2 1224 274 CCDS12415 UQCRH complex III 1 46769303-46782448 13146 forward ENST00000311672 5 4 604 91 CCDS30704 UQCRQ complex III 5 132202252-132203723 1472 forward ENST00000378670 6 3 839 82 CCDS34237 UQCR10 complex III 22 30163352-30166402 3051 forward ENST00000330029 4 2 916 63 CCDS46680 UQCR11 complex III 19 1597154-1605483 8330 reverse ENST00000262946 1 3 1335 56 CCDS12073 Table S2Observed non-synonymous mutations in 1,092 individuals (246 are from Africans including Afro-Americans, 379 Europeans, 286 Asians and 181 Americans) from the 1000 Genomes dataset and MutPred, PolyPhen and SIFT pathogenicity scores (and the majority vote). Gene Uploaded Variation Position in cDNA Position in CDS Position in protein Amino acid change Codon change Co-located Variation MutPred MutPred Prediction PolyPhen Score PolyPhen Prediction SIFT Score SIFT Prediction Pathogenic Vote AK2 1_33487277_T/C 411 247 83 I/V Att/Gtt rs184683619 0.577 Neutral 0.212 benign 0.270 tolerated 0 AK2 1_33487007_C/T 550 386 129 S/N aGc/aAc rs61750965 0.297 Neutral 0.001 benign 0.560 tolerated 0 AK2 1_33486974_G/A 583 419 140 T/I aCa/aTa rs192209857 0.589 Neutral 0.880 possibly damaging 0.040 deleterious 1 AK2 1_33480172_C/T 613 449 150 R/H cGt/cAt rs149227118 0.561 Neutral 0.639 possibly damaging 0.000 deleterious 1 AK2 1_33480161_C/T 624 460 154 E/K Gag/Aag rs148421308 0.483 Neutral 0.854 possibly damaging 0.820 tolerated 0 AK2 1_33478891_C/T 775 611 204 R/Q cGg/cAg rs200179721 0.544 Neutral 0.008 benign 0.200 tolerated 0 AK2 1_33478877_C/T 789 625 209 A/T Gcc/Acc rs12116440 0.095 Neutral 0.056 benign 0.390 tolerated 0 AK2 1_33478853_C/G 813 649 217 D/H Gat/Cat rs185081372 0.341 Neutral 0.024 benign 0.050 tolerated 0
AK3 9_4719182_C/A 318 187 63 A/S Gcc/Tcc rs188377589 0.359 Neutral 0.006 benign 0.410 tolerated 0 AK3 9_4719161_T/A 339 208 70 I/F Att/Ttt rs141090350 0.365 Neutral 0.374 benign 0.010 deleterious 1 AK3 9_4718440_T/G 463 332 111 K/T aAg/aCg rs151087607 0.436 Neutral 0.250 benign 0.030 deleterious 1 AK3 9_4713058_G/A 523 392 131 T/I aCc/aTc rs140003401 0.382 Neutral 0.912 probably damaging 0.000 deleterious 2 AK4 1_65614154_T/A 269 64 22 C/S Tgc/Agc rs17853973 0.752 Pathogenic 0.006 benign 1.000 tolerated 1 AK4 1_65684463_G/A 497 292 98 E/K Gaa/Aaa rs200696544 0.591 Neutral 0.030 benign 0.170 tolerated 0 AK4 1_65684545_G/A 579 374 125 R/H cGc/cAc rs142956995 0.642 Possibly Pathogenic 0.002 benign 0.200 tolerated 0 AK4 1_65690489_G/A 698 493 165 E/K Gaa/Aaa rs185251178 0.722 Pathogenic 0.671 possibly damaging 0.010 deleterious 2 AK4 1_65691837_A/G 854 649 217 I/V Att/Gtt rs201234545 0.220 Neutral 0.000 benign 0.640 tolerated 0 ATP5A1 18_43678173_C/T 147 25 9 A/T Gcc/Acc rs141639003 0.352 Neutral 0.000 unknown 0.080 tolerated 0 ATP5A1 18_43678172_G/A 148 26 9 A/V gCc/gTc rs200039737 0.330 Neutral 0.000 unknown 0.080 tolerated 0 ATP5A1 18_43675064_C/A 216 94 32 A/S Gct/Tct rs79011243 0.173 Neutral 0.005 benign 0.150 tolerated 0 ATP5A1 18_43675046_C/T 234 112 38 A/T Gcc/Acc rs189208584 0.167 Neutral 0.001 benign 0.730 tolerated 0 ATP5A1 18_43669662_G/C 642 520 174 L/V Ctg/Gtg rs11541929 0.299 Neutral 0.001 benign 1.000 tolerated 0 ATP5A1 18_43668207_T/C 789 667 223 I/V Att/Gtt rs77958705 0.197 Neutral 0.059 benign 0.110 tolerated 0 ATP5B 12_57039713_G/A 86 35 12 P/L cCg/cTg rs200568028 0.303 Neutral 0.000 benign 0.010 deleterious 1 ATP5B 12_57039675_A/G 124 73 25 S/P Tcg/Ccg rs144845797 0.177 Neutral 0.009 benign 0.080 tolerated 0 ATP5B 12_57039674_G/A 125 74 25 S/L tCg/tTg rs2293450 0.263 Neutral 0.000 benign 0.110 tolerated 0 ATP5B 12_57039080_C/T 236 185 62 R/H cGc/cAc rs41291993 0.338 Neutral 0.001 benign 0.050 deleterious 1 ATP5B 12_57037309_C/T 721 670 224 A/T Gcc/Acc rs200966693 0.668 Possibly Pathogenic 0.967 probably damaging 0.000 deleterious 2 ATP5B 12_57037209_T/C 821 770 257 N/S aAc/aGc rs142007312 0.257 Neutral 0.002 benign 0.520 tolerated 0
ATP5B 12_57032995_G/A 1435 1384 462 R/C Cgt/Tgt rs200610844 0.709 Pathogenic 0.993 probably damaging 0.000 deleterious 3 ATP5B 12_57032900_C/A 1530 1479 493 Q/H caG/caT rs145015204 0.336 Neutral 0.391 benign 0.050 tolerated 0 ATP5C1 10_7838106_A/G 158 79 27 T/A Act/Gct rs199602842 0.468 Neutral 0.724 possibly damaging 0.000 deleterious 1 ATP5C1 10_7840983_C/T 333 254 85 P/L cCt/cTt rs146307767 0.528 Neutral 0.046 benign 0.310 tolerated 0 ATP5C1 10_7841811_A/G 584 505 169 I/V Att/Gtt rs139967528 0.689 Possibly Pathogenic 0.037 benign 0.240 tolerated 0 ATP5C1 10_7844268_G/A 752 673 225 V/M Gtg/Atg rs199960374 0.770 Pathogenic 0.820 possibly damaging 0.030 deleterious 2 ATP5C1 10_7844756_C/T 908 829 277 R/C Cgt/Tgt rs137988284 0.908 Pathogenic 0.692 possibly damaging 0.030 deleterious 2 ATP5D 19_1241932_C/T 184 83 28 A/V gCc/gTc rs199988557 0.285 Neutral 0.000 unknown 0.520 tolerated 0 ATP5D 19_1244170_A/G 471 370 124 M/V Atg/Gtg rs200344400 0.393 Neutral 0.051 benign 0.210 tolerated 0 ATP5D 19_1244401_G/A 573 472 158 E/K Gag/Aag rs200593395 0.664 Possibly Pathogenic 0.987 probably damaging 0.020 deleterious 2 ATP5E 20_57605431_G/T 217 86 29 T/K aCa/aAa rs146230809 0.464 Neutral 0.010 benign 0.080 tolerated 0 ATP5EP2 13_28519416_A/G 74 20 7 Q/R cAg/cGg rs7334094 0.459 Neutral 0.989 probably damaging 0.000 deleterious 2 ATP5F1 1_111998734_A/G 856 250 84 I/V Atc/Gtc rs151112830 0.355 Neutral 0.029 benign 0.410 tolerated 0 ATP5F1 1_111999312_A/G 1054 448 150 I/V Att/Gtt rs150276317 0.702 Pathogenic 0.003 benign 0.060 tolerated 1 ATP5F1 1_111999319_C/T 1061 455 152 T/M aCg/aTg rs1264895 0.118 Neutral 0.007 benign 0.170 tolerated 0 ATP5F1 1_112002094_G/A 1135 529 177 A/T Gct/Act rs144377157 0.531 Neutral 0.035 benign 0.450 tolerated 0 ATP5F1 1_112002202_G/C 1243 637 213 E/Q Gaa/Caa rs182170395 0.465 Neutral 0.077 benign 0.030 deleterious 1 ATP5F1 1_112002232_G/A 1273 667 223 V/M Gtg/Atg rs146878380 0.909 Pathogenic 0.999 probably damaging 0.000 deleterious 3 ATP5G1 17_46970783_C/G 89 4 2 Q/E Cag/Gag rs201139259 0.240 Neutral 0.154 benign 0.090 tolerated 0 ATP5G2 12_54069975_A/G 1208 2 1 M/T aTg/aCg rs201675029 0.761 Pathogenic 0.000 unknown 0.010 deleterious 2 ATP5G2 12_54063677_C/T 1349 143 48 R/Q cGa/cAa rs140613495 0.211 Neutral 0.008 benign 0.250 tolerated 0 ATP5G2 12_54063056_C/T 1441 235 79 A/T Gcc/Acc rs145981161 0.209 Neutral 0.016 benign 0.130 tolerated 0
ATP5G3 2_176046090_G/A 3057 32 11 P/L cCc/cTc rs142182201 0.472 Neutral 0.800 possibly damaging 0.010 deleterious 1 ATP5G3 2_176044863_G/A 3108 83 28 S/L tCa/tTa rs144490355 0.365 Neutral 0.002 benign 0.220 tolerated 0 ATP5G3 2_176043906_T/C 3218 193 65 I/V Atc/Gtc rs36089250 0.244 Neutral 0.000 benign 1.000 tolerated 0 ATP5H 17_73038667_T/G 143 79 27 I/L Att/Ctt rs200410651 0.321 Neutral 0.107 benign 0.740 tolerated 0 ATP5H 17_73038316_T/C 243 179 60 N/S aAt/aGt rs143915019 0.468 Neutral 0.008 benign 0.770 tolerated 0 ATP5I 4_668015_A/G 113 22 8 S/P Tct/Cct rs143075692 0.715 Pathogenic 0.665 possibly damaging 0.010 deleterious 2 ATP5I 4_668009_G/A 119 28 10 L/F Ctc/Ttc rs76028807 0.739 Pathogenic 0.818 possibly damaging 0.010 deleterious 2 ATP5I 4_667134_T/G 239 148 50 K/Q Aag/Cag rs147287885 0.536 Neutral 0.021 benign 0.170 tolerated 0 ATP5I 4_667115_C/T 258 167 56 R/Q cGg/cAg rs181881252 0.500 Neutral 0.048 benign 0.120 tolerated 0 ATP5J 21_27102014_G/C 219 92 31 A/G gCa/gGa rs73338261 0.798 Pathogenic 0.985 probably damaging 0.050 deleterious 3 ATP5J 21_27097641_T/G 312 185 62 D/A gAt/gCt rs182225698 0.897 Pathogenic 0.959 probably damaging 0.000 deleterious 3 ATP5J2 7_99063760_G/A 195 5 2 A/V gCg/gTg rs201512015 0.170 Neutral 0.718 possibly damaging 0.000 deleterious 1 ATP5J2 7_99063739_G/C 216 26 9 A/G gCc/gGc rs117298057 0.201 Neutral 0.002 benign 0.370 tolerated 0 ATP5J2 7_99056770_T/G 446 256 86 K/Q Aag/Cag rs146584377 0.497 Neutral 0.892 possibly damaging 0.010 deleterious 1 ATP5J2 7_99055969_C/T 456 266 89 R/Q cGg/cAg rs144185727 0.504 Neutral 0.066 benign 0.060 tolerated 0 ATP5L 11_118277742_G/C 655 143 48 R/T aGa/aCa rs181465227 0.385 Neutral 0.002 benign 0.690 tolerated 0 ATP5L 11_118279769_G/A 780 268 90 G/R Gga/Aga rs200472961 0.873 Pathogenic 0.460 possibly damaging 0.030 deleterious 2 ATP5L2 22_43036264_C/T 344 17 6 R/H cGt/cAt rs148856876 0.452 Neutral 0.005 benign 0.190 tolerated 0 ATP5L2 22_43035994_C/G 614 287 96 R/P cGt/cCt rs145437748 0.794 Pathogenic 0.668 possibly damaging 0.040 deleterious 2 ATP5O 21_35288061_C/T 224 7 3 A/T Gcc/Acc rs202191698 0.207 Neutral 0.062 benign 0.040 deleterious 1 ATP5O 21_35288049_A/G 236 19 7 S/P Tcc/Ccc rs201852944 0.291 Neutral 0.233 benign 0.180 tolerated 0
ATP5O 21_35286801_G/C 257 40 14 R/G Cga/Gga rs190343471 0.686 Possibly Pathogenic 0.831 possibly damaging 0.000 deleterious 1 ATP5O 21_35281496_T/C 435 218 73 K/R aAa/aGa rs140827929 0.372 Neutral 0.103 benign 0.160 tolerated 0 ATP5O 21_35281461_G/A 470 253 85 R/C Cgt/Tgt rs150994121 0.493 Neutral 0.819 possibly damaging 0.000 deleterious 1 ATP5O 21_35281421_T/C 510 293 98 K/R aAa/aGa rs4842 0.174 Neutral 0.032 benign 0.140 tolerated 0 ATP5O 21_35279713_C/T 590 373 125 V/I Gtt/Att rs190233927 0.531 Neutral 0.013 benign 1.000 tolerated 0 ATP5O 21_35275939_T/C 750 533 178 D/G gAt/gGt rs182975028 0.780 Pathogenic 0.232 benign 0.020 deleterious 2 ATP5O 21_35275936_G/A 753 536 179 P/L cCg/cTg rs191960490 0.816 Pathogenic 0.013 benign 0.080 tolerated 1 ATP5O 21_35275931_T/C 758 541 181 I/V Atc/Gtc rs141125740 0.831 Pathogenic 0.482 possibly damaging 0.040 deleterious 2 ATP5O 21_35275914_A/C 775 558 186 I/M atT/atG rs11552279 0.812 Pathogenic 0.950 probably damaging 0.000 deleterious 3 ATP5O 21_35275907_T/C 782 565 189 I/V Att/Gtt rs75701641 0.713 Pathogenic 0.482 possibly damaging 0.100 tolerated 1 ATP5O 21_35275835_C/A 854 637 213 V/F Gtc/Ttc rs142550850 0.428 Neutral 0.064 benign 0.000 deleterious 1 ATP5S 14_50779764_G/A 718 26 9 R/Q cGa/cAa rs192355817 0.281 Neutral 0.059 benign 0.360 tolerated 0 ATP5S 14_50788213_C/T 745 53 18 P/L cCg/cTg rs2275592 0.305 Neutral 0.000 benign 1.000 tolerated 0 ATP5S 14_50788240_G/A 772 80 27 C/Y tGt/tAt rs201427439 0.324 Neutral 0.002 benign 1.000 tolerated 0 ATP5S 14_50789309_G/A 925 233 78 R/H cGc/cAc rs185659761 0.556 Neutral 0.966 probably damaging 0.000 deleterious 2 ATP5S 14_50789387_C/T 1003 311 104 A/V gCg/gTg rs142828913 0.306 Neutral 0.977 probably damaging 0.240 tolerated 1 ATP5S 14_50789401_G/A 1017 325 109 D/N Gac/Aac rs140662926 0.464 Neutral 0.078 benign 0.380 tolerated 0 ATP5S 14_50789426_T/C 1042 350 117 F/S tTt/tCt rs192482233 0.611 Possibly Pathogenic 0.985 probably damaging 0.000 deleterious 2 COX10 17_13972938_C/T 93 16 6 H/Y Cac/Tac rs199881731 0.350 Neutral 0.933 probably damaging 0.000 deleterious 2 COX10 17_13977679_C/T 160 83 28 T/I aCt/aTt rs16948978 0.184 Neutral 0.006 benign 0.080 tolerated 0 COX10 17_13977689_C/A 170 93 31 D/E gaC/gaA rs141481210 0.458 Neutral 0.000 benign 1.000 tolerated 0
COX10 17_13980058_A/T 261 184 62 T/S Aca/Tca rs2230351 0.156 Neutral 0.024 benign 0.040 deleterious 1 COX10 17_13980134_C/T 337 260 87 T/I aCa/aTa rs144000161 0.265 Neutral 0.003 benign 0.110 tolerated 0 COX10 17_13980164_A/G 367 290 97 Y/C tAt/tGt rs16948986 0.113 Neutral 0.001 benign 0.190 tolerated 0 COX10 17_13980176_C/T 379 302 101 P/L cCt/cTt rs145948285 0.374 Neutral 0.177 benign 0.050 deleterious 1 COX10 17_13980185_C/T 388 311 104 P/L cCg/cTg rs202207627 0.298 Neutral 0.003 benign 0.210 tolerated 0 COX10 17_13980254_T/C 457 380 127 I/T aTt/aCt rs201424119 0.393 Neutral 0.001 benign 0.350 tolerated 0 COX10 17_13980350_G/A 553 476 159 R/Q cGa/cAa rs8077302 0.587 Neutral 0.056 benign 0.250 tolerated 0 COX10 17_14005467_G/T 609 532 178 A/S Gca/Tca rs200373790 0.703 Pathogenic 0.903 possibly damaging 0.040 deleterious 2 COX10 17_14005498_G/A 640 563 188 C/Y tGt/tAt rs200827701 0.520 Neutral 0.854 possibly damaging 0.070 tolerated 0 COX10 17_14063243_C/T 751 674 225 P/L cCg/cTg rs104894556 0.948 Pathogenic 0.462 possibly damaging 0.290 tolerated 1 COX10 17_14063251_C/T 759 682 228 R/C Cgt/Tgt rs114521946 0.653 Possibly Pathogenic 0.638 possibly damaging 0.020 deleterious 1 COX10 17_14110129_G/A 1008 931 311 A/T Gca/Aca rs200472593 0.683 Possibly Pathogenic 0.970 probably damaging 0.000 deleterious 2 COX10 17_14110267_G/T 1146 1069 357 A/S Gcg/Tcg rs188087012 0.567 Neutral 0.877 possibly damaging 0.220 tolerated 0 COX10 17_14110294_G/T 1173 1096 366 V/L Gtg/Ttg rs111541535 0.723 Pathogenic 0.000 benign 0.820 tolerated 1 COX10 17_14110397_A/G 1276 1199 400 Y/C tAc/tGc rs200260465 0.747 Pathogenic 0.995 probably damaging 0.000 deleterious 3 COX10 17_14110489_C/T 1368 1291 431 R/W Cgg/Tgg rs113058506 0.380 Neutral 0.500 possibly damaging 0.000 deleterious 1 COX11 17_53045947_G/A 118 61 21 H/Y Cac/Tac rs73990239 0.260 Neutral 0.034 benign 0.010 deleterious 1 COX11 17_53045787_G/A 278 221 74 P/L cCt/cTt rs34080917 0.117 Neutral 0.000 benign 0.110 tolerated 0 COX11 17_53040677_T/C 695 638 213 N/S aAt/aGt rs199579556 0.628 Possibly Pathogenic 0.999 probably damaging 0.420 tolerated 1 COX11 17_53040119_T/A 863 806 269 K/M aAg/aTg rs200586356 0.406 Neutral 0.370 benign 0.150 tolerated 0 COX15 10_101487264_G/A 380 329 110 P/L cCa/cTa rs144644373 0.817 Pathogenic 0.372 benign 0.060 tolerated 1
COX15 10_101486775_G/A 583 532 178 R/C Cgt/Tgt rs192078749 0.510 Neutral 0.868 possibly damaging 0.010 deleterious 1 COX15 10_101486759_C/T 599 548 183 R/H cGt/cAt rs35483721 0.704 Pathogenic 0.355 benign 0.030 deleterious 2 COX15 10_101486736_C/T 622 571 191 V/I Gtc/Atc rs187284527 0.529 Neutral 0.077 benign 1.000 tolerated 0 COX15 10_101483799_G/A 715 664 222 R/C Cgc/Tgc rs2231682 0.894 Pathogenic 0.997 probably damaging 0.000 deleterious 3 COX15 10_101483721_G/C 793 742 248 P/A Ccg/Gcg rs183558471 0.437 Neutral 0.003 benign 1.000 tolerated 0 COX15 10_101480782_T/C 845 794 265 H/R cAt/cGt rs200876059 0.536 Neutral 0.458 possibly damaging 0.250 tolerated 0 COX15 10_101478249_C/T 892 841 281 V/M Gtg/Atg rs201703572 0.904 Pathogenic 1.000 probably damaging 0.000 deleterious 3 COX15 10_101478110_C/T 1031 980 327 R/Q cGg/cAg rs199761049 0.942 Pathogenic 0.986 probably damaging 0.000 deleterious 3 COX15 10_101476166_A/G 1091 1040 347 I/T aTt/aCt rs144580290 0.438 Neutral 0.018 benign 0.400 tolerated 0 COX16 14_70826303_A/G 146 2 1 M/T aTg/aCg rs188182259 0.996 Pathogenic 0.057 benign 0.030 deleterious 2 COX16 14_70826238_A/C 211 67 23 L/V Ttg/Gtg rs182316587 0.451 Neutral 0.210 benign 0.020 deleterious 1 COX16 14_70809397_C/T 263 119 40 R/Q cGa/cAa rs139410596 0.543 Neutral 0.999 probably damaging 0.000 deleterious 2 COX18 4_73935357_G/A 102 10 4 R/W Cgg/Tgg rs187930178 0.477 Neutral 0.888 possibly damaging 0.000 deleterious 1 COX18 4_73931077_T/C 580 488 163 D/G gAt/gGt rs141592190 0.741 Pathogenic 0.723 possibly damaging 0.000 deleterious 2 COX18 4_73931056_G/C 601 509 170 A/G gCc/gGc rs148370240 0.666 Possibly Pathogenic 0.077 benign 0.010 deleterious 1 COX18 4_73931009_A/T 648 556 186 F/I Ttt/Att rs193287733 0.570 Neutral 0.006 benign 0.220 tolerated 0 COX18 4_73927613_T/C 837 745 249 M/V Atg/Gtg rs189709178 0.304 Neutral 0.002 benign 0.300 tolerated 0 COX18 4_73927571_T/C 879 787 263 M/V Atg/Gtg rs115487882 0.697 Possibly Pathogenic 0.003 benign 0.930 tolerated 0 COX18 4_73927549_A/G 901 809 270 I/T aTt/aCt rs181365781 0.744 Pathogenic 0.092 benign 0.010 deleterious 2
COX18 4_73927540_G/A 910 818 273 T/M aCg/aTg rs138323566 0.706 Pathogenic 0.684 possibly damaging 0.010 deleterious 2 COX18 4_73923943_C/T 982 890 297 R/H cGt/cAt rs186168799 0.502 Neutral 0.616 possibly damaging 0.010 deleterious 1 COX18 4_73923937_G/A 988 896 299 P/L cCt/cTt rs200107314 0.669 Possibly Pathogenic 0.995 probably damaging 0.000 deleterious 2 COX4I1 16_85838545_A/G 146 76 26 S/G Agt/Ggt rs147346083 0.464 Neutral 0.007 benign 1.000 tolerated 0 COX4I1 16_85838594_G/A 195 125 42 R/H cGt/cAt rs201313443 0.613 Possibly Pathogenic 0.997 probably damaging 0.050 tolerated 1 COX4I2 20_30226848_G/A 103 28 10 V/M Gtg/Atg rs199601484 0.411 Neutral 0.003 benign 0.060 tolerated 0 COX4I2 20_30227741_G/C 163 88 30 G/R Ggt/Cgt rs148327783 0.391 Neutral 0.038 benign 0.080 tolerated 0 COX4I2 20_30227828_G/C 250 175 59 A/P Gct/Cct rs147223483 0.457 Neutral 0.009 benign 0.500 tolerated 0 COX4I2 20_30231292_C/G 408 333 111 F/L ttC/ttG rs145481393 0.607 Possibly Pathogenic 0.592 possibly damaging 0.170 tolerated 0 COX4I2 20_30232598_C/T 482 407 136 T/M aCg/aTg rs201685557 0.490 Neutral 0.949 probably damaging 0.010 deleterious 2 COX4I2 20_30232603_G/A 487 412 138 E/K Gag/Aag rs119455950 0.902 Pathogenic 0.433 benign 0.010 deleterious 2 COX4I2 20_30232673_G/A 557 482 161 R/H cGc/cAc rs11907253 0.183 Neutral 0.010 benign 0.220 tolerated 0 COX5A 15_75230282_G/C 228 74 25 S/C tCc/tGc rs200367305 0.324 Neutral 0.189 benign 0.090 tolerated 0 COX5A 15_75221559_G/A 269 115 39 R/C Cgc/Tgc rs200811470 0.684 Possibly Pathogenic 0.953 probably damaging 0.000 deleterious 2 COX5A 15_75221462_C/T 366 212 71 R/H cGt/cAt rs150174803 0.831 Pathogenic 0.194 benign 0.010 deleterious 2 COX5A 15_75219196_G/C 404 250 84 P/A Cca/Gca rs199907556 0.910 Pathogenic 1.000 probably damaging 0.020 deleterious 3 COX5A 15_75219190_G/A 410 256 86 P/S Ccc/Tcc rs200875315 0.709 Pathogenic 0.901 possibly damaging 0.000 deleterious 2 COX5B 2_98263883_A/G 301 254 85 N/S aAc/aGc rs75630766 0.458 Neutral 0.344 benign 0.040 deleterious 1 COX6A1 12_120875934_C/T 42 5 2 A/V gCg/gTg rs200221639 0.306 Neutral 0.000 unknown 0.030 deleterious missing COX6A1 12_120876205_T/C 164 127 43 F/L Ttc/Ctc rs201293121 0.709 Pathogenic 0.020 benign 0.100 tolerated 1 COX6A1 12_120876304_C/A 263 226 76 H/N Cat/Aat rs140243339 0.724 Pathogenic 0.993 probably damaging 0.000 deleterious 3
COX6A1 12_120878320_A/G 347 310 104 T/A Act/Gct rs200936136 0.390 Neutral 0.096 benign 0.340 tolerated 0 COX6A2 16_31439613_A/C 119 34 12 L/V Ttg/Gtg rs140129800 0.230 Neutral 0.214 benign 0.040 deleterious 1 COX6B1 19_36145481_C/T 210 166 56 R/C Cgc/Tgc rs149686147 0.758 Pathogenic 0.113 benign 0.060 tolerated 1 COX6B2 19_55865795_C/A 278 95 32 C/F tGc/tTc rs149294692 0.903 Pathogenic 0.998 probably damaging 0.000 deleterious 3 COX6C 8_100904243_G/A 462 7 3 P/S Ccc/Tcc rs149663441 0.397 Neutral 0.004 benign 1.000 tolerated 0 COX6C 8_100904215_C/T 490 35 12 R/H cGt/cAt rs200470517 0.838 Pathogenic 0.048 benign 0.150 tolerated 1 COX7A1 19_36642421_T/G 592 130 44 K/Q Aag/Cag rs17882491 0.868 Pathogenic 0.998 probably damaging 0.000 deleterious 3 COX7A1 19_36642390_C/T 623 161 54 R/Q cGa/cAa rs150190766 0.720 Pathogenic 0.788 possibly damaging 0.020 deleterious 2 COX7A2 6_75953516_C/G 342 31 11 V/L Gtt/Ctt rs113123058 0.269 Neutral 0.008 benign 0.000 deleterious 1 COX7A2 6_75953470_C/T 388 77 26 C/Y tGc/tAc rs190629998 0.388 Neutral 0.002 benign 0.120 tolerated 0 COX7A2 6_75950056_C/T 561 250 84 A/T Gcc/Acc rs115820973 0.255 Neutral 0.052 benign 0.090 tolerated 0 COX7A2L 2_42580456_C/G 930 100 34 A/P Gca/Cca rs150177100 0.292 Neutral 0.037 benign 0.340 tolerated 0 COX7A2L 2_42580380_T/C 1006 176 59 K/R aAa/aGa rs200309743 0.533 Neutral 0.058 benign 0.430 tolerated 0 COX7A2L 2_42578481_C/T 1053 223 75 V/I Gtc/Atc rs185444762 0.517 Neutral 0.024 benign 0.410 tolerated 0 COX7A2L 2_42578409_T/C 1125 295 99 I/V Atc/Gtc rs150597431 0.259 Neutral 0.026 benign 0.690 tolerated 0 COX7A2L 2_42578367_T/G 1167 337 113 N/H Aac/Cac rs199682193 0.395 Neutral 0.726 possibly damaging 0.060 tolerated 0 COX7B X_77158147_C/A 164 48 16 S/R agC/agA rs61752458 0.643 Possibly Pathogenic 0.821 possibly damaging 0.010 deleterious 1 COX7B2 4_46737193_G/A 193 17 6 A/V gCc/gTc rs200964160 0.670 Possibly Pathogenic 0.052 benign 0.410 tolerated 0 COX7B2 4_46737163_T/C 223 47 16 Q/R cAa/cGa rs111699375 0.411 Neutral 0.000 benign 1.000 tolerated 0 COX7B2 4_46737129_A/T 257 81 27 H/Q caT/caA rs201505906 0.396 Neutral 0.664 possibly damaging 0.010 deleterious 1 COX7B2 4_46737040_G/A 346 170 57 T/I aCa/aTa rs140822119 0.432 Neutral 0.004 benign 0.200 tolerated 0 COX8A 11_63742157_C/T 79 5 2 S/F tCc/tTc rs148986341 0.468 Neutral 0.008 benign 0.010 deleterious 1
NDUFB6 9_32572932_T/C 229 127 43 M/V Atg/Gtg rs142741532 0.171 Neutral 0.005 benign 1.000 tolerated 0 NDUFB6 9_32571013_G/A 320 218 73 T/I aCt/aTt rs200723755 0.347 Neutral 0.274 benign 0.330 tolerated 0 NDUFB6 9_32570989_A/G 344 242 81 I/T aTt/aCt rs148891049 0.448 Neutral 0.870 possibly damaging 0.010 deleterious 1 NDUFB6 9_32553935_G/A 428 326 109 T/I aCa/aTa rs143339409 0.349 Neutral 0.009 benign 0.110 tolerated 0 NDUFB6 9_32553915_C/T 448 346 116 V/I Gta/Ata rs190587227 0.362 Neutral 0.994 probably damaging 0.350 tolerated 1 NDUFB7 19_14682809_C/A 78 4 2 G/W Ggg/Tgg rs189994454 0.528 Neutral 0.999 probably damaging 0.000 deleterious 2 NDUFB7 19_14682725_C/A 162 88 30 G/C Ggc/Tgc rs201675767 0.742 Pathogenic 1.000 probably damaging 0.000 deleterious 3 NDUFB7 19_14682721_A/C 166 92 31 F/C tTc/tGc rs200041574 0.866 Pathogenic 0.742 possibly damaging 0.000 deleterious 2 NDUFB7 19_14677608_G/A 324 250 84 R/W Cgg/Tgg rs200757972 0.700 Pathogenic 0.895 possibly damaging 0.000 deleterious 2 NDUFB7 19_14677049_G/A 384 310 104 R/W Cgg/Tgg rs200292442 0.614 Possibly Pathogenic 0.937 probably damaging 0.020 deleterious 2 NDUFB7 19_14677043_G/C 390 316 106 R/G Cgg/Ggg rs3752220 0.270 Neutral 0.004 benign 0.060 tolerated 0 NDUFB7 19_14677022_T/G 411 337 113 K/Q Aag/Cag rs202223254 0.444 Neutral 0.002 benign 0.360 tolerated 0 NDUFB8 10_102289587_C/G 35 22 8 V/L Gtc/Ctc rs139827718 0.625 Possibly Pathogenic 0.010 benign 0.360 tolerated 0 NDUFB8 10_102289572_A/C 50 37 13 W/G Tgg/Ggg rs201604335 0.692 Possibly Pathogenic 0.398 benign 0.020 deleterious 1 NDUFB8 10_102289263_G/T 99 86 29 A/D gCc/gAc rs200405716 0.718 Pathogenic 0.998 probably damaging 0.080 tolerated 2 NDUFB8 10_102286733_G/A 324 311 104 P/L cCg/cTg rs185514139 0.625 Possibly Pathogenic 0.294 benign 0.010 deleterious 1 NDUFB8 10_102286256_G/C 381 368 123 P/R cCt/cGt rs74154666 0.519 Neutral 0.850 possibly damaging 0.220 tolerated 0 NDUFB8 10_102286251_A/T 386 373 125 S/T Tct/Act rs1802224 0.515 Neutral 0.042 benign 0.230 tolerated 0 NDUFB8 10_102286179_C/T 458 445 149 V/M Gtg/Atg rs141801241 0.329 Neutral 0.020 benign 0.170 tolerated 0
NDUFB9 8_125555335_T/C 193 109 37 Y/H Tac/Cac rs140417066 0.581 Neutral 0.953 probably damaging 0.030 deleterious 2 NDUFB9 8_125555366_G/T 224 140 47 R/L cGg/cTg rs142723791 0.598 Neutral 0.885 possibly damaging 0.000 deleterious 1 NDUFB9 8_125555387_A/T 245 161 54 E/V gAa/gTa rs138066988 0.579 Neutral 0.040 benign 1.000 tolerated 0 NDUFB9 8_125555426_C/G 284 200 67 A/G gCc/gGc rs200765174 0.578 Neutral 0.006 benign 1.000 tolerated 0 NDUFB9 8_125555446_C/T 304 220 74 R/C Cgt/Tgt rs199940282 0.393 Neutral 0.002 benign 0.230 tolerated 0 NDUFB9 8_125562029_C/T 520 436 146 P/S Cct/Tct rs10195 0.124 Neutral 0.009 benign 0.140 tolerated 0 NDUFB9 8_125562065_C/G 556 472 158 R/G Cga/Gga rs148402231 0.301 Neutral 0.662 possibly damaging 0.000 deleterious 1 NDUFC1 4_140216277_C/T 425 91 31 V/M Gtg/Atg rs201811659 0.297 Neutral 0.840 possibly damaging 0.020 deleterious 1 NDUFC1 4_140216214_C/T 488 154 52 V/I Gtc/Atc rs200399570 0.223 Neutral 0.021 benign 0.220 tolerated 0 NDUFC1 4_140216203_C/A 499 165 55 W/C tgG/tgT rs201035643 0.674 Possibly Pathogenic 0.997 probably damaging 0.000 deleterious 2 NDUFC1 4_140213733_C/G 536 202 68 E/Q Gag/Cag rs72939460 0.274 Neutral 0.991 probably damaging 0.010 deleterious 2 NDUFC2 11_77790655_G/C 611 136 46 L/V Cta/Gta rs8875 0.172 Neutral 0.010 benign 0.500 tolerated 0 NDUFC2 11_77781037_C/T 831 356 119 R/H cGt/cAt rs183610034 0.799 Pathogenic 0.999 probably damaging 0.000 deleterious 3 NDUFS1 2_207018354_G/C 316 49 17 P/A Cct/Gct rs201997807 0.365 Neutral 0.000 benign 0.330 tolerated 0 NDUFS1 2_207012277_T/C 796 529 177 I/V Ata/Gta rs140126185 0.794 Pathogenic 0.996 probably damaging 0.000 deleterious 3 NDUFS1 2_207011753_A/G 878 611 204 M/T aTg/aCg rs148544177 0.334 Neutral 0.065 benign 0.090 tolerated 0 NDUFS1 2_207008821_G/C 1175 908 303 T/S aCc/aGc rs75666426 0.364 Neutral 0.346 benign 0.270 tolerated 0 NDUFS1 2_207007550_C/A 1260 993 331 Q/H caG/caT rs145401558 0.441 Neutral 0.038 benign 0.170 tolerated 0 NDUFS1 2_207007482_A/T 1328 1061 354 L/H cTc/cAc rs139690694 0.727 Pathogenic 0.933 probably damaging 0.000 deleterious 3 NDUFS1 2_207006704_C/T 1490 1223 408 R/H cGt/cAt rs151279101 0.873 Pathogenic 1.000 probably damaging 0.000 deleterious 3 NDUFS1 2_207003310_G/C 1558 1291 431 L/V Ctt/Gtt rs78042826 0.446 Neutral 0.013 benign 0.630 tolerated 0
NDUFS1 2_207003221_A/C 1647 1380 460 H/Q caT/caG rs202214721 0.634 Possibly Pathogenic 0.987 probably damaging 0.020 deleterious 2 NDUFS1 2_206997706_C/T 1783 1516 506 V/I Gtt/Att rs137889316 0.538 Neutral 0.072 benign 0.400 tolerated 0 NDUFS1 2_206994857_T/C 1930 1663 555 I/V Atc/Gtc rs200131601 0.523 Neutral 0.010 benign 0.610 tolerated 0 NDUFS1 2_206994821_T/C 1966 1699 567 I/V Att/Gtt rs147685849 0.465 Neutral 0.005 benign 1.000 tolerated 0 NDUFS1 2_206991540_G/C 2180 1913 638 T/S aCt/aGt rs200782941 0.330 Neutral 0.002 benign 1.000 tolerated 0 NDUFS1 2_206991498_T/C 2222 1955 652 N/S aAt/aGt rs201644320 0.266 Neutral 0.048 benign 0.410 tolerated 0 NDUFS1 2_206991447_T/C 2273 2006 669 N/S aAt/aGt rs142716964 0.339 Neutral 0.001 benign 0.880 tolerated 0 NDUFS2 1_161172233_C/A 506 58 20 P/T Cct/Act rs11538340 0.257 Neutral 0.009 benign 0.060 tolerated 0 NDUFS2 1_161180473_T/C 1407 959 320 V/A gTt/gCt rs144937332 0.710 Pathogenic 0.780 possibly damaging 0.000 deleterious 2 NDUFS2 1_161180482_G/A 1416 968 323 R/Q cGa/cAa rs35086265 0.314 Neutral 0.051 benign 0.120 tolerated 0 NDUFS2 1_161182208_C/G 1502 1054 352 P/A Cct/Gct rs11576415 0.316 Neutral 0.916 probably damaging 0.000 deleterious 2 NDUFS2 1_161182232_G/T 1526 1078 360 D/Y Gat/Tat rs145577083 0.570 Neutral 1.000 probably damaging 0.000 deleterious 2 NDUFS2 1_161182259_G/A 1553 1105 369 A/T Gca/Aca rs200509897 0.418 Neutral 0.037 benign 0.180 tolerated 0 NDUFS2 1_161183502_G/T 1724 1276 426 A/S Gct/Tct rs186476170 0.745 Pathogenic 0.843 possibly damaging 0.080 tolerated 1 NDUFS2 1_161183958_T/C 1815 1367 456 I/T aTt/aCt rs140731056 0.817 Pathogenic 0.816 possibly damaging 0.000 deleterious 2 NDUFS3 11_47600677_C/T 116 34 12 R/C Cgc/Tgc rs201457989 0.556 Neutral 0.397 benign 0.030 deleterious 1 NDUFS3 11_47603733_G/C 557 475 159 V/L Gtg/Ctg rs148331180 0.683 Possibly Pathogenic 0.289 benign 0.810 tolerated 0 NDUFS3 11_47605878_G/A 722 640 214 D/N Gat/Aat rs201626967 0.389 Neutral 0.123 benign 0.020 deleterious 1 NDUFS3 11_47605891_G/A 735 653 218 R/Q cGg/cAg rs78121716 0.576 Neutral 0.987 probably damaging 0.000 deleterious 2 NDUFS3 11_47605987_A/G 831 749 250 E/G gAg/gGg rs201167810 0.263 Neutral 0.005 benign 0.000 deleterious 1 NDUFS4 5_52856497_C/A 33 5 2 A/E gCg/gAg rs148595893 0.282 Neutral 0.112 benign 0.000 deleterious 1 NDUFS4 5_52856502_G/C 38 10 4 V/L Gtg/Ctg rs185711494 0.297 Neutral 0.000 benign 0.120 tolerated 0
NDUFS4 5_52856539_G/A 75 47 16 R/Q cGg/cAg rs188911977 0.340 Neutral 0.008 benign 0.380 tolerated 0 NDUFS4 5_52856563_C/A 99 71 24 A/D gCc/gAc rs146259362 0.401 Neutral 0.255 benign 0.040 deleterious 1 NDUFS4 5_52856572_T/A 108 80 27 V/D gTt/gAt rs145347909 0.293 Neutral 0.064 benign 0.020 deleterious 1 NDUFS4 5_52899282_G/T 127 99 33 R/S agG/agT rs200926524 0.293 Neutral 0.024 benign 0.020 deleterious 1 NDUFS4 5_52942135_C/T 278 250 84 R/C Cgc/Tgc rs184765529 0.777 Pathogenic 0.994 probably damaging 0.000 deleterious 3 NDUFS4 5_52954401_T/G 399 371 124 M/R aTg/aGg rs199541993 0.735 Pathogenic 0.535 possibly damaging 0.000 deleterious 2 NDUFS4 5_52978992_T/A 497 469 157 S/T Tcc/Acc rs149482195 0.329 Neutral 0.074 benign 0.210 tolerated 0 NDUFS4 5_52979034_A/G 539 511 171 R/G Aga/Gga rs200758718 0.605 Possibly Pathogenic 0.999 probably damaging 0.000 deleterious 2 NDUFS5 1_39494611_C/T 302 215 72 T/M aCg/aTg rs201757086 0.343 Neutral 0.188 benign 0.040 deleterious 1 NDUFS5 1_39500125_C/T 365 278 93 T/I aCc/aTc rs200515387 0.282 Neutral 0.999 probably damaging 0.000 deleterious 2 NDUFS5 1_39500140_A/C 380 293 98 H/P cAc/cCc rs192512172 0.199 Neutral 0.847 possibly damaging 0.000 deleterious 1 NDUFS5 1_39500141_C/A 381 294 98 H/Q caC/caA rs146279654 0.260 Neutral 0.847 possibly damaging 0.060 tolerated 0 NDUFS6 5_1802445_A/T 161 143 48 D/V gAt/gTt rs199652659 0.287 Neutral 0.003 benign 0.070 tolerated 0 NDUFS6 5_1814495_G/A 247 229 77 V/M Gtg/Atg rs187737486 0.414 Neutral 0.941 probably damaging 0.060 tolerated 1 NDUFS6 5_1814523_C/T 275 257 86 A/V gCg/gTg rs192286856 0.313 Neutral 0.674 possibly damaging 0.500 tolerated 0 NDUFS6 5_1815992_G/A 355 337 113 G/S Ggt/Agt rs200109710 0.685 Possibly Pathogenic 0.974 probably damaging 0.080 tolerated 1 NDUFS7 19_1387824_G/A 332 31 11 G/S Ggc/Agc rs201112782 0.323 Neutral 0.002 benign 0.590 tolerated 0 NDUFS7 19_1388538_C/T 369 68 23 P/L cCg/cTg rs1142530 0.186 Neutral 0.000 benign 0.350 tolerated 0 NDUFS7 19_1388855_C/G 447 146 49 A/G gCc/gGc rs11551666 0.251 Neutral 0.004 benign 0.120 tolerated 0 NDUFS7 19_1393344_G/A 860 559 187 A/T Gca/Aca rs201420030 0.717 Pathogenic 0.111 benign 0.000 deleterious 2 NDUFS8 11_67799622_C/T 111 4 2 R/C Cgc/Tgc rs150278938 0.371 Neutral 0.000 benign 0.130 tolerated 0
NDUFS8 11_67799637_C/A 126 19 7 P/T Cct/Act rs142658611 0.257 Neutral 0.005 benign 0.260 tolerated 0 NDUFS8 11_67799649_C/T 138 31 11 R/W Cgg/Tgg rs201990988 0.493 Neutral 0.059 benign 0.000 deleterious 1 NDUFS8 11_67799671_G/A 160 53 18 R/H cGt/cAt rs201017561 0.411 Neutral 0.041 benign 0.170 tolerated 0 NDUFS8 11_67803759_C/A 519 412 138 R/S Cgc/Agc rs201484242 0.595 Neutral 1.000 probably damaging 0.000 deleterious 2 NDUFS8 11_67803929_G/A 609 502 168 G/S Ggc/Agc rs147344724 0.496 Neutral 0.098 benign 0.140 tolerated 0 NDUFV1 11_67376023_G/T 309 156 52 R/S agG/agT rs199609729 0.392 Neutral 0.012 benign 0.500 tolerated 0 NDUFV1 11_67376936_G/T 493 340 114 V/L Gtg/Ttg rs200365831 0.693 Possibly Pathogenic 0.165 benign 0.030 deleterious 1 NDUFV1 11_67376982_A/G 539 386 129 E/G gAg/gGg rs144291845 0.441 Neutral 0.242 benign 0.030 deleterious 1 NDUFV1 11_67377036_G/A 593 440 147 R/Q cGg/cAg rs199972110 0.674 Possibly Pathogenic 0.511 possibly damaging 0.300 tolerated 0 NDUFV1 11_67377050_C/T 607 454 152 R/C Cgc/Tgc rs151144350 0.567 Neutral 0.038 benign 0.080 tolerated 0 NDUFV1 11_67377870_T/C 682 529 177 Y/H Tat/Cat rs180950242 0.645 Possibly Pathogenic 0.995 probably damaging 0.000 deleterious 2 NDUFV1 11_67377904_G/A 716 563 188 G/D gGc/gAc rs142982022 0.899 Pathogenic 0.488 possibly damaging 0.030 deleterious 2 NDUFV1 11_67377936_C/T 748 595 199 R/C Cgc/Tgc rs201289242 0.557 Neutral 0.466 possibly damaging 0.020 deleterious 1 NDUFV1 11_67378498_G/A 886 733 245 V/M Gtg/Atg rs200829846 0.854 Pathogenic 0.818 possibly damaging 0.020 deleterious 2 NDUFV1 11_67378525_A/G 913 760 254 I/V Atc/Gtc rs201908937 0.872 Pathogenic 0.435 possibly damaging 0.000 deleterious 2 NDUFV1 11_67378876_G/T 1069 916 306 G/C Ggt/Tgt rs201382784 0.968 Pathogenic 0.998 probably damaging 0.000 deleterious 3 NDUFV1 11_67378883_C/T 1076 923 308 T/M aCg/aTg rs200925993 0.381 Neutral 0.268 benign 0.010 deleterious 1 NDUFV1 11_67379374_A/G 1240 1087 363 I/V Atc/Gtc rs200270653 0.472 Neutral 0.003 benign 0.680 tolerated 0 NDUFV1 11_67379608_A/C 1333 1180 394 K/Q Aag/Cag rs145679247 0.410 Neutral 0.045 benign 0.340 tolerated 0 NDUFV1 11_67379615_T/C 1340 1187 396 M/T aTg/aCg rs200627507 0.662 Possibly Pathogenic 0.068 benign 0.010 deleterious 1 NDUFV1 11_67379853_G/A 1472 1319 440 R/H cGc/cAc rs146910804 0.440 Neutral 0.083 benign 0.020 deleterious 1
NDUFV2 18_9117855_T/C 188 74 25 L/S tTg/tCg rs199997775 0.478 Neutral 0.223 benign 0.010 deleterious 1 NDUFV2 18_9117867_T/C 200 86 29 V/A gTt/gCt rs906807 0.160 Neutral 0.000 benign 1.000 tolerated 0 NDUFV2 18_9117899_G/A 232 118 40 V/M Gtg/Atg rs75362221 0.478 Neutral 0.181 benign 0.010 deleterious 1 NDUFV2 18_9119324_C/T 235 121 41 H/Y Cac/Tac rs202166758 0.687 Possibly Pathogenic 0.991 probably damaging 0.000 deleterious 2 NDUFV2 18_9119355_C/A 266 152 51 T/N aCt/aAt rs142405606 0.285 Neutral 0.809 possibly damaging 0.050 deleterious 1 NDUFV2 18_9122573_G/A 477 363 121 M/I atG/atA rs200422010 0.768 Pathogenic 1.000 probably damaging 0.000 deleterious 3 NDUFV2 18_9122586_C/A 490 376 126 P/T Cca/Aca rs199560855 0.865 Pathogenic 0.993 probably damaging 0.000 deleterious 3 NDUFV2 18_9124909_C/G 621 507 169 F/L ttC/ttG rs201708711 0.835 Pathogenic 0.992 probably damaging 0.000 deleterious 3 NDUFV2 18_9124974_A/G 686 572 191 N/S aAt/aGt rs200691654 0.560 Neutral 0.113 benign 0.010 deleterious 1 NDUFV3 21_44313454_C/G 80 11 4 P/R cCg/cGg rs77606940 0.328 Neutral 0.031 benign 0.120 tolerated 0 NDUFV3 21_44317073_G/T 154 85 29 A/S Gct/Tct rs78214542 0.143 Neutral 0.217 benign 0.080 tolerated 0 NDUFV3 21_44317080_C/T 161 92 31 T/M aCg/aTg rs148054698 0.199 Neutral 0.913 probably damaging 0.000 deleterious 2 NDUFV3 21_44317112_G/A 193 124 42 E/K Gaa/Aaa rs201455116 0.215 Neutral 0.060 benign 0.280 tolerated 0 NDUFV3 21_44317156_A/C 237 168 56 K/N aaA/aaC rs141922962 0.208 Neutral 0.998 probably damaging 0.000 deleterious 2 NDUFV3 21_44323388_C/T 335 266 89 A/V gCt/gTt rs200656693 0.079 Neutral 0.006 benign 1.000 tolerated 0 NDUFV3 21_44323412_C/T 359 290 97 A/V gCt/gTt rs35064727 0.160 Neutral 0.996 probably damaging 0.160 tolerated 1 NDUFV3 21_44323430_G/T 377 308 103 G/V gGc/gTc rs201597963 0.112 Neutral 0.263 benign 0.020 deleterious 1 NDUFV3 21_44323667_G/C 614 545 182 R/T aGa/aCa rs201154517 0.320 Neutral 0.139 benign 0.010 deleterious 1 NDUFV3 21_44323948_G/A 895 826 276 E/K Gaa/Aaa rs202060146 0.289 Neutral 0.011 benign 0.610 tolerated 0 NDUFV3 21_44323957_A/G 904 835 279 K/E Aaa/Gaa rs141329399 0.182 Neutral 0.978 probably damaging 0.010 deleterious 2 NDUFV3 21_44324329_G/A 1276 1207 403 E/K Gag/Aag rs61746238 0.267 Neutral 0.000 benign 0.940 tolerated 0
NDUFV3 21_44324365_G/A 1312 1243 415 D/N Gac/Aac rs10595 0.155 Neutral 0.182 benign 0.410 tolerated 0 NDUFV3 21_44324372_G/A 1319 1250 417 R/Q cGa/cAa rs114225578 0.201 Neutral 0.001 benign 1.000 tolerated 0 NDUFV3 21_44324377_G/A 1324 1255 419 G/S Ggc/Agc rs183648098 0.159 Neutral 0.005 benign 0.790 tolerated 0 NT5M 17_17209862_G/C 489 273 91 K/N aaG/aaC rs199941205 0.724 Pathogenic 0.993 probably damaging 0.030 deleterious 3 NT5M 17_17248203_C/A 741 525 175 D/E gaC/gaA rs201242235 0.940 Pathogenic 0.991 probably damaging 0.000 deleterious 3 NT5M 17_17250159_C/T 797 581 194 P/L cCg/cTg rs2240876 0.430 Neutral 0.000 benign 0.520 tolerated 0 NT5M 17_17250197_G/A 835 619 207 A/T Gcc/Acc rs145194793 0.254 Neutral 0.718 possibly damaging 0.160 tolerated 0 OPA1 3_193332522_C/A 277 43 15 Q/K Cag/Aag rs75414918 0.210 Neutral 0.000 benign 0.160 tolerated 0 OPA1 3_193332564_C/G 319 85 29 P/A Cca/Gca rs145565705 0.389 Neutral 0.023 benign 0.020 deleterious 1 OPA1 3_193332718_A/G 473 239 80 Y/C tAt/tGt rs151103940 0.436 Neutral 0.456 possibly damaging 0.030 deleterious 1 OPA1 3_193332823_C/T 578 344 115 A/V gCc/gTc rs200983556 0.371 Neutral 0.134 benign 0.520 tolerated 0 OPA1 3_193334991_G/A 707 473 158 S/N aGt/aAt rs7624750 0.168 Neutral 0.001 benign 0.810 tolerated 0 OPA1 3_193336676_C/T 809 575 192 A/V gCg/gTg rs34307082 0.119 Neutral 0.235 benign 0.040 deleterious 1 OPA1 3_193343987_G/A 965 731 244 R/H cGc/cAc rs201202646 0.189 Neutral 0.830 possibly damaging 0.010 deleterious 1 OPA1 3_193349441_T/C 1010 776 259 L/P cTt/cCt rs200223621 0.486 Neutral 0.108 benign 0.030 deleterious 1
OPA1 3_193360767_G/A 1414 1180 394 A/T Gca/Aca rs190223702 0.657 Possibly Pathogenic 0.911 probably damaging 0.030 deleterious 2 OPA1 3_193361167_A/G 1491 1257 419 I/M atA/atG rs143319805 0.920 Pathogenic 0.998 probably damaging 0.000 deleterious 3 OPA1 3_193363363_A/G 1810 1576 526 K/E Aag/Gag rs201301622 0.465 Neutral 0.434 benign 0.130 tolerated 0 OPA1 3_193364870_G/A 1951 1717 573 A/T Gca/Aca rs182251953 0.342 Neutral 0.111 benign 0.590 tolerated 0 OPA1 3_193366644_G/A 2176 1942 648 V/I Gtt/Att rs200756304 0.290 Neutral 0.169 benign 0.470 tolerated 0 OPA1 3_193372737_A/G 2279 2045 682 N/S aAt/aGt rs142694017 0.344 Neutral 0.016 benign 0.790 tolerated 0 OPA1 3_193375011_A/G 2501 2267 756 E/G gAg/gGg rs199925668 0.444 Neutral 0.049 benign 0.380 tolerated 0 OPA1 3_193377336_C/T 2686 2452 818 R/W Cgg/Tgg rs190235251 0.559 Neutral 0.954 probably damaging 0.010 deleterious 2 OPA1 3_193380621_A/G 2711 2477 826 N/S aAt/aGt rs200428940 0.197 Neutral 0.037 benign 0.420 tolerated 0 OPA1 3_193380726_G/A 2816 2582 861 R/Q cGa/cAa rs200412464 0.314 Neutral 0.012 benign 0.350 tolerated 0 OPA1 3_193409895_A/C 3207 2973 991 E/D gaA/gaC rs189036094 0.149 Neutral 0.006 benign 0.190 tolerated 0 OPA3 19_46087989_G/C 134 34 12 L/V Cta/Gta rs200742525 0.403 Neutral 0.086 benign 0.470 tolerated 0 OPA3 19_46057071_C/T 341 241 81 A/T Gca/Aca rs186796646 0.889 Pathogenic 1.000 probably damaging 0.000 deleterious 3 OPA3 19_46056900_C/T 512 412 138 A/T Gcg/Acg rs142402590 0.496 Neutral 0.013 benign 0.390 tolerated 0 PEO1 10_102748430_C/T 648 463 155 R/W Cgg/Tgg rs200405447 0.466 Neutral 0.608 possibly damaging 0.010 deleterious 1 PEO1 10_102748493_G/A 711 526 176 A/T Gct/Act rs199810842 0.454 Neutral 0.008 benign 0.540 tolerated 0 PEO1 10_102748601_G/A 819 634 212 G/R Ggg/Agg rs117140867 0.320 Neutral 0.001 benign 0.620 tolerated 0 PEO1 10_102748644_G/T 862 677 226 C/F tGc/tTc rs187291192 0.266 Neutral 0.045 benign 0.190 tolerated 0 PEO1 10_102749069_G/A 1287 1102 368 V/I Gta/Ata rs17113613 0.713 Pathogenic 0.035 benign 0.610 tolerated 1
PEO1 10_102749079_G/A 1297 1112 371 R/Q cGg/cAg rs143309797 0.417 Neutral 0.501 possibly damaging 0.590 tolerated 0 PEO1 10_102750648_A/T 1800 1615 539 I/F Atc/Ttc rs200192223 0.635 Possibly Pathogenic 0.466 possibly damaging 0.000 deleterious 1 PEO1 10_102750730_A/G 1882 1697 566 K/R aAg/aGg rs116046810 0.348 Neutral 0.080 benign 0.340 tolerated 0 PEO1 10_102753154_G/C 2127 1942 648 V/L Gtg/Ctg rs190487176 0.207 Neutral 0.008 benign 0.260 tolerated 0 PEO1 10_102753257_G/A 2230 2045 682 R/H cGt/cAt rs182559752 0.116 Neutral 0.002 benign 0.200 tolerated 0 PINK1 1_20960385_A/T 438 344 115 Q/L cAg/cTg rs148871409 0.130 Neutral 0.037 benign 0.220 tolerated 0 PINK1 1_20964401_C/T 548 454 152 R/W Cgg/Tgg rs45608139 0.494 Neutral 0.734 possibly damaging 0.000 deleterious 1 PINK1 1_20964533_C/T 680 586 196 P/S Cca/Tca rs35802484 0.267 Neutral 0.019 benign 0.010 deleterious 1 PINK1 1_20964546_C/T 693 599 200 A/V gCa/gTa rs149822257 0.224 Neutral 0.062 benign 1.000 tolerated 0 PINK1 1_20964573_C/T 720 626 209 P/L cCg/cTg rs34677717 0.700 Pathogenic 0.001 benign 0.290 tolerated 1 PINK1 1_20966389_G/T 774 680 227 G/V gGt/gTt rs138018628 0.540 Neutral 0.934 probably damaging 0.020 deleterious 2 PINK1 1_20966404_C/T 789 695 232 A/V gCc/gTc rs144071530 0.528 Neutral 0.988 probably damaging 0.010 deleterious 2 PINK1 1_20971050_A/T 938 844 282 T/S Acc/Tcc rs200036561 0.361 Neutral 0.963 probably damaging 0.010 deleterious 2 PINK1 1_20971057_C/A 945 851 284 S/Y tCc/tAc rs113092523 0.526 Neutral 0.872 possibly damaging 0.010 deleterious 1 PINK1 1_20971063_C/T 951 857 286 P/L cCg/cTg rs146691996 0.541 Neutral 0.989 probably damaging 0.010 deleterious 2 PINK1 1_20971075_G/A 963 869 290 G/E gGg/gAg rs181675228 0.596 Neutral 0.998 probably damaging 0.030 deleterious 2 PINK1 1_20971111_G/A 999 905 302 R/H cGc/cAc rs201940147 0.576 Neutral 0.054 benign 0.080 tolerated 0 PINK1 1_20971119_C/G 1007 913 305 P/A Cct/Gct rs112600292 0.361 Neutral 0.975 probably damaging 0.000 deleterious 2 PINK1 1_20971141_G/A 1029 935 312 R/Q cGg/cAg rs202128685 0.600 Possibly Pathogenic 0.899 possibly damaging 0.070 tolerated 0 PINK1 1_20971155_G/A 1043 949 317 V/I Gtt/Att rs200949139 0.835 Pathogenic 0.827 possibly damaging 0.030 deleterious 2
PINK1 1_20972103_G/A 1104 1010 337 R/H cGc/cAc rs184043309 0.453 Neutral 0.191 benign 0.050 deleterious 1 PINK1 1_20972108_G/A 1109 1015 339 A/T Gcc/Acc rs55831733 0.879 Pathogenic 0.720 possibly damaging 0.050 tolerated 1 PINK1 1_20972111_G/A 1112 1018 340 A/T Gcc/Acc rs3738136 0.187 Neutral 0.004 benign 1.000 tolerated 0 PINK1 1_20972168_G/A 1169 1075 359 A/T Gcg/Acg rs76753586 0.596 Neutral 1.000 probably damaging 0.000 deleterious 2 PINK1 1_20975079_G/A 1299 1205 402 S/N aGc/aAc rs200728364 0.532 Neutral 0.979 probably damaging 0.020 deleterious 2 PINK1 1_20975105_G/A 1325 1231 411 G/S Ggc/Agc rs45478900 0.815 Pathogenic 0.027 benign 1.000 tolerated 1 PINK1 1_20975111_C/G 1331 1237 413 L/V Ctg/Gtg rs202130946 0.611 Possibly Pathogenic 0.999 probably damaging 0.000 deleterious 2 PINK1 1_20975549_C/T 1407 1313 438 A/V gCa/gTa rs183454580 0.811 Pathogenic 0.916 probably damaging 0.000 deleterious 3 PINK1 1_20975662_G/A 1520 1426 476 E/K Gag/Aag rs115477764 0.727 Pathogenic 0.014 benign 0.350 tolerated 1 PINK1 1_20976940_G/A 1596 1502 501 R/Q cGa/cAa rs61744200 0.453 Neutral 0.998 probably damaging 0.120 tolerated 1 PINK1 1_20977000_A/C 1656 1562 521 N/T aAt/aCt rs1043424 0.233 Neutral 0.007 benign 0.020 deleterious 1 PINK1 1_20977042_C/T 1698 1604 535 S/L tCg/tTg rs146126901 0.377 Neutral 0.999 probably damaging 0.000 deleterious 2 POLG 15_89876985_T/C 335 1 1 M/V Atg/Gtg rs201786897 0.915 Pathogenic 0.026 benign 0.000 deleterious 2 POLG 15_89876858_T/C 462 128 43 Q/R cAg/cGg rs28567406 0.130 Neutral 0.077 benign 0.560 tolerated 0 POLG 15_89876578_G/C 742 408 136 D/E gaC/gaG rs115109291 0.409 Neutral 0.033 benign 1.000 tolerated 0 POLG 15_89876408_C/T 912 578 193 R/Q cGg/cAg rs3176162 0.164 Neutral 0.003 benign 0.370 tolerated 0 POLG 15_89873415_G/A 1086 752 251 T/I aCt/aTt rs113994094 0.602 Possibly Pathogenic 0.001 benign 0.210 tolerated 0 POLG 15_89873364_C/G 1137 803 268 G/A gGg/gCg rs61752784 0.938 Pathogenic 0.995 probably damaging 0.000 deleterious 3
SDHB 1_17349180_G/A 839 688 230 R/C Cgc/Tgc rs138996609 0.924 Pathogenic 0.998 probably damaging 0.000 deleterious 3 SDHB 1_17349159_G/A 860 709 237 P/S Cca/Tca rs186768244 0.287 Neutral 0.064 benign 0.410 tolerated 0 SDHC 1_161293437_T/G 203 54 18 F/L ttT/ttG rs200761743 0.395 Neutral 0.000 benign 0.940 tolerated 0 SDHC 1_161298206_C/T 247 98 33 T/M aCg/aTg rs148566767 0.268 Neutral 0.482 possibly damaging 0.070 tolerated 0 SDHC 1_161326496_T/G 420 271 91 L/V Tta/Gta rs144532303 0.376 Neutral 0.003 benign 0.870 tolerated 0 SDHD 11_111958581_C/T 188 53 18 A/V gCt/gTt rs192332761 0.644 Possibly Pathogenic 0.007 benign 0.350 tolerated 0 SDHD 11_111958677_A/G 284 149 50 H/R cAc/cGc rs11214077 0.260 Neutral 0.797 possibly damaging 0.090 tolerated 0 SDHD 11_111959668_G/C 382 247 83 A/P Gct/Cct rs202239399 0.739 Pathogenic 0.955 probably damaging 0.010 deleterious 3 SDHD 11_111965636_A/G 557 422 141 Y/C tAt/tGt rs199772639 0.733 Pathogenic 0.885 possibly damaging 0.060 tolerated 1 SSBP1 7_141438979_C/T 146 13 5 P/S Cct/Tct rs148887629 0.445 Neutral 0.060 benign 0.170 tolerated 0 SSBP1 7_141441981_T/C 170 37 13 F/L Ttt/Ctt rs192517454 0.259 Neutral 0.001 benign 0.560 tolerated 0 SSBP1 7_141443490_T/C 348 215 72 V/A gTt/gCt rs200664859 0.427 Neutral 0.001 benign 0.450 tolerated 0 SSBP1 7_141443499_T/C 357 224 75 L/P cTg/cCg rs78598246 0.401 Neutral 0.000 benign 0.280 tolerated 0 SSBP1 7_141443764_G/A 422 289 97 V/M Gtg/Atg rs148271472 0.569 Neutral 0.819 possibly damaging 0.030 deleterious 1 TFAM 10_60145327_T/C 546 20 7 M/T aTg/aCg rs200473819 0.376 Neutral 0.042 benign 0.260 tolerated 0 TFAM 10_60145342_G/C 561 35 12 S/T aGt/aCt rs1937 0.162 Neutral 0.019 benign 0.510 tolerated 0 TFAM 10_60145390_G/T 609 83 28 R/L cGa/cTa rs199678369 0.598 Neutral 0.993 probably damaging 0.180 tolerated 1 TFAM 10_60146077_A/G 725 199 67 I/V Ata/Gta rs138243284 0.506 Neutral 0.034 benign 1.000 tolerated 0
TK2 16_66583885_G/A 431 80 27 S/L tCa/tTa rs191573607 0.256 Neutral 0.897 possibly damaging 0.020 deleterious 1 TK2 16_66565357_C/T 652 301 101 D/N Gat/Aat rs148450491 0.593 Neutral 0.131 benign 0.050 tolerated 0 TK2 16_66565297_G/T 712 361 121 H/N Cat/Aat rs137854429 0.687 Possibly Pathogenic 0.457 possibly damaging 0.000 deleterious 1 TK2 16_66562931_C/T 766 415 139 A/T Gca/Aca rs138479499 0.722 Pathogenic 0.937 probably damaging 0.010 deleterious 3 TK2 16_66551710_C/T 871 520 174 V/M Gtg/Atg rs149036717 0.561 Neutral 0.360 benign 0.010 deleterious 1 TK2 16_66545906_T/C 1114 763 255 I/V Ata/Gta rs144419486 0.665 Possibly Pathogenic 0.686 possibly damaging 0.060 tolerated 0 UCP1 4_141489766_G/A 194 118 40 R/W Cgg/Tgg rs150067245 0.912 Pathogenic 0.999 probably damaging 0.000 deleterious 3 UCP1 4_141489068_C/T 266 190 64 A/T Gct/Act rs45539933 0.139 Neutral 0.000 benign 1.000 tolerated 0 UCP1 4_141484519_G/C 555 479 160 A/G gCg/gGg rs200389729 0.765 Pathogenic 0.995 probably damaging 0.000 deleterious 3 UCP1 4_141484292_C/A 676 600 200 E/D gaG/gaT rs138611550 0.364 Neutral 0.009 benign 0.680 tolerated 0 UCP1 4_141483471_T/A 761 685 229 M/L Atg/Ttg rs2270565 0.174 Neutral 0.001 benign 0.290 tolerated 0 UCP1 4_141483389_A/G 843 767 256 M/T aTg/aCg rs140138182 0.557 Neutral 0.006 benign 0.130 tolerated 0 UCP1 4_141481151_A/G 899 823 275 F/L Ttc/Ctc rs146114327 0.603 Possibly Pathogenic 0.975 probably damaging 0.000 deleterious 2 UCP2 11_73689309_C/T 958 115 39 V/I Gtc/Atc rs148253207 0.751 Pathogenic 0.127 benign 0.040 deleterious 2 UCP2 11_73689131_T/C 980 137 46 E/G gAa/gGa rs201348391 0.459 Neutral 0.493 possibly damaging 0.010 deleterious 1 UCP2 11_73689128_C/T 983 140 47 S/N aGt/aAt rs144018051 0.344 Neutral 0.001 benign 0.520 tolerated 0 UCP2 11_73689104_G/A 1007 164 55 A/V gCc/gTc rs660339 0.174 Neutral 0.002 benign 0.080 tolerated 0 UCP2 11_73689099_C/T 1012 169 57 A/T Gcc/Acc rs145662569 0.254 Neutral 0.002 benign 0.280 tolerated 0 UCP2 11_73689056_C/T 1055 212 71 R/H cGt/cAt rs182694614 0.701 Pathogenic 0.264 benign 0.000 deleterious 2 UCP2 11_73689051_C/G 1060 217 73 E/Q Gag/Cag rs200489709 0.783 Pathogenic 0.720 possibly damaging 0.010 deleterious 2 UCP2 11_73689041_C/T 1070 227 76 R/Q cGa/cAa rs45541732 0.276 Neutral 0.068 benign 0.400 tolerated 0
UCP2 11_73687922_C/G 1321 478 160 V/L Gtc/Ctc rs144885917 0.411 Neutral 0.002 benign 0.840 tolerated 0 UCP2 11_73686657_C/T 1537 694 232 A/T Gcc/Acc rs200027152 0.535 Neutral 0.214 benign 0.000 deleterious 1 UCP2 11_73686632_G/A 1562 719 240 T/M aCg/aTg rs201373362 0.829 Pathogenic 1.000 probably damaging 0.000 deleterious 3 UCP2 11_73686622_C/G 1572 729 243 M/I atG/atC rs139945658 0.741 Pathogenic 0.300 benign 0.130 tolerated 1 UCP2 11_73686548_G/C 1646 803 268 A/G gCc/gGc rs45490393 0.87 Pathogenic 0.199 benign 0.020 deleterious 2 UCP2 11_73686137_G/C 1688 845 282 S/C tCc/tGc rs45596837 0.316 Neutral 0.968 probably damaging 0.000 deleterious 2 UCP3 11_73718077_A/C 564 11 4 L/R cTg/cGg rs141482270 0.376 Neutral 0.625 possibly damaging 0.190 tolerated 0 UCP3 11_73718030_C/T 611 58 20 A/T Gca/Aca rs199679366 0.773 Pathogenic 0.980 probably damaging 0.000 deleterious 3 UCP3 11_73717417_C/T 687 134 45 G/E gGg/gAg rs147631608 0.589 Neutral 0.998 probably damaging 0.000 deleterious 2 UCP3 11_73717396_G/A 708 155 52 T/M aCg/aTg rs17848367 0.426 Neutral 0.038 benign 0.060 tolerated 0 UCP3 11_73717342_C/T 762 209 70 R/Q cGg/cAg rs58614015 0.769 Pathogenic 0.506 possibly damaging 0.130 tolerated 1 UCP3 11_73717340_T/G 764 211 71 T/P Act/Cct rs143786748 0.507 Neutral 0.648 possibly damaging 0.040 deleterious 1 UCP3 11_73717301_C/T 803 250 84 G/S Ggc/Agc rs183714776 0.713 Pathogenic 0.997 probably damaging 0.000 deleterious 3 UCP3 11_73717277_C/T 827 274 92 A/T Gcc/Acc rs192655642 0.732 Pathogenic 0.718 possibly damaging 0.020 deleterious 2 UCP3 11_73717219_G/A 885 332 111 A/V gCg/gTg rs74907838 0.290 Neutral 0.002 benign 0.440 tolerated 0 UCP3 11_73716960_C/T 909 356 119 R/Q cGg/cAg rs17848372 0.552 Neutral 0.996 probably damaging 0.000 deleterious 2 UCP3 11_73716835_C/T 1034 481 161 G/R Ggg/Agg rs201405748 0.737 Pathogenic 0.990 probably damaging 0.000 deleterious 3 UCP3 11_73716829_T/C 1040 487 163 M/V Atg/Gtg rs201679589 0.372 Neutral 0.005 benign 0.900 tolerated 0 UCP3 11_73715571_C/T 1154 601 201 D/N Gac/Aac rs201993988 0.742 Pathogenic 0.998 probably damaging 0.000 deleterious 3
UCP3 11_73714978_C/T 1271 718 240 V/M Gtg/Atg rs138705669 0.723 Pathogenic 0.999 probably damaging 0.010 deleterious 3 UCP3 11_73714927_G/T 1322 769 257 L/I Ctc/Atc rs145884716 0.489 Neutral 0.009 benign 0.470 tolerated 0 UCP3 11_73712501_G/A 1448 895 299 R/W Cgg/Tgg rs142927779 0.590 Neutral 0.988 probably damaging 0.000 deleterious 2 UCP3 11_73712478_C/A 1471 918 306 M/I atG/atT rs199959534 0.448 Neutral 0.000 benign 0.200 tolerated 0 UCP3 11_73712465_G/A 1484 931 311 P/S Ccg/Tcg rs200773036 0.351 Neutral 0.084 benign 0.070 tolerated 0 UCP3 11_73712464_G/A 1485 932 311 P/L cCg/cTg rs76629964 0.375 Neutral 0.884 possibly damaging 0.000 deleterious 1 UQCR10 22_30163526_A/G 169 139 47 I/V Atc/Gtc rs76013375 0.196 Neutral 0.013 benign 0.350 tolerated 0 UQCR10 22_30165686_A/G 200 170 57 K/R aAg/aGg rs199810262 0.714 Pathogenic 0.860 possibly damaging 0.200 tolerated 1 UQCR11 19_1599448_C/A 237 162 54 K/N aaG/aaT rs181112176 0.508 Neutral 0.793 possibly damaging 0.280 tolerated 0 UQCRB 8_97247742_G/A 121 17 6 A/V gCc/gTc rs200758329 0.411 Neutral 0.013 benign 0.120 tolerated 0 UQCRB 8_97244082_T/A 282 178 60 M/L Atg/Ttg rs145974195 0.438 Neutral 0.005 benign 0.290 tolerated 0 UQCRB 8_97244060_A/T 304 200 67 L/Q cTg/cAg rs139283183 0.645 Possibly Pathogenic 0.926 probably damaging 0.040 deleterious 2 UQCRB 8_97244011_T/G 353 249 83 K/N aaA/aaC rs145828292 0.566 Neutral 0.485 possibly damaging 0.000 deleterious 1 UQCRB 8_97243321_G/A 402 298 100 R/W Cgg/Tgg rs199583530 0.606 Possibly Pathogenic 0.000 unknown 0.080 tolerated 0 UQCRC1 3_48646654_T/C 568 151 51 S/G Agc/Ggc rs117171524 0.648 Possibly Pathogenic 0.276 benign 0.000 deleterious 1 UQCRC1 3_48643235_C/A 682 265 89 A/S Gca/Tca rs201250580 0.678 Possibly Pathogenic 0.270 benign 0.030 deleterious 1 UQCRC1 3_48641799_G/T 910 493 165 R/S Cgt/Agt rs191821836 0.768 Pathogenic 1.000 probably damaging 0.000 deleterious 3
UQCRC1 3_48641060_C/G 1060 643 215 D/H Gac/Cac rs17080284 0.251 Neutral 0.997 probably damaging 0.090 tolerated 1 UQCRC1 3_48638807_G/C 1217 800 267 P/R cCa/cGa rs149245457 0.492 Neutral 0.060 benign 0.050 deleterious 1 UQCRC1 3_48638801_C/T 1223 806 269 R/H cGc/cAc rs62618742 0.389 Neutral 0.395 benign 0.160 tolerated 0 UQCRC1 3_48638548_G/A 1243 826 276 R/C Cgc/Tgc rs201911056 0.549 Neutral 0.172 benign 0.010 deleterious 1 UQCRC1 3_48638472_T/C 1319 902 301 N/S aAt/aGt rs144710790 0.198 Neutral 0.274 benign 0.430 tolerated 0 UQCRC1 3_48638451_T/C 1340 923 308 N/S aAt/aGt rs187641562 0.667 Possibly Pathogenic 0.117 benign 0.230 tolerated 0 UQCRC1 3_48638440_C/T 1351 934 312 G/S Ggc/Agc rs145869559 0.917 Pathogenic 1.000 probably damaging 0.000 deleterious 3 UQCRC1 3_48637996_G/A 1549 1132 378 R/C Cgc/Tgc rs200354059 0.625 Possibly Pathogenic 0.996 probably damaging 0.000 deleterious 2 UQCRC1 3_48637143_C/T 1720 1303 435 E/K Gag/Aag rs139999010 0.432 Neutral 0.002 benign 0.050 tolerated 0 UQCRC1 3_48637071_A/T 1792 1375 459 Y/N Tat/Aat rs202030377 0.596 Neutral 0.047 benign 0.000 deleterious 1 UQCRC2 16_21968584_A/G 826 62 21 K/R aAa/aGa rs188964091 0.380 Neutral 0.012 benign 0.050 deleterious 1 UQCRC2 16_21974117_C/G 1189 425 142 T/R aCa/aGa rs139500759 0.846 Pathogenic 0.314 benign 0.030 deleterious 2 UQCRC2 16_21974134_C/A 1206 442 148 R/S Cgt/Agt rs2228473 0.190 Neutral 0.295 benign 0.540 tolerated 0 UQCRC2 16_21974204_C/T 1276 512 171 T/I aCt/aTt rs202168192 0.340 Neutral 0.002 benign 1.000 tolerated 0 UQCRC2 16_21976762_G/A 1312 548 183 R/Q cGg/cAg rs4850 0.232 Neutral 0.085 benign 0.070 tolerated 0 UQCRC2 16_21982936_G/A 1525 761 254 R/H cGt/cAt rs11863893 0.219 Neutral 0.008 benign 0.650 tolerated 0 UQCRC2 16_21983430_A/C 1717 953 318 Q/P cAg/cCg rs146974535 0.675 Possibly Pathogenic 0.007 benign 0.290 tolerated 0
UQCRC2 16_21991888_A/G 1909 1145 382 Y/C tAc/tGc rs139312246 0.569 Neutral 0.972 probably damaging 0.010 deleterious 2 UQCRC2 16_21991927_A/T 1948 1184 395 E/V gAa/gTa rs190027776 0.531 Neutral 0.701 possibly damaging 0.070 tolerated 0 UQCRC2 16_21991953_G/T 1974 1210 404 G/C Ggt/Tgt rs181040575 0.809 Pathogenic 0.992 probably damaging 0.000 deleterious 3 UQCRFS1 19_29704010_A/C 127 16 6 S/A Tcc/Gcc rs8100724 0.169 Neutral 0.001 benign 1.000 tolerated 0 UQCRFS1 19_29699006_G/A 385 274 92 R/C Cgc/Tgc rs185606879 0.866 Pathogenic 0.822 possibly damaging 0.010 deleterious 2 UQCRFS1 19_29698816_T/G 575 464 155 K/T aAg/aCg rs201719321 0.545 Neutral 0.816 possibly damaging 0.010 deleterious 1 UQCRH 1_46774783_A/G 201 65 22 E/G gAa/gGa rs41292543 0.168 Neutral 0.746 possibly damaging 0.030 deleterious 1 UQCRH 1_46775905_G/A 296 160 54 D/N Gat/Aat rs189114560 0.359 Neutral 0.030 benign 1.000 tolerated 0 UQCRH 1_46775975_C/A 366 230 77 A/E gCg/gAg rs181971906 0.826 Pathogenic 0.998 probably damaging 0.240 tolerated 2 UQCRQ 5_132202583_G/A 151 10 4 E/K Gag/Aag rs137995316 0.420 Neutral 0.014 benign 0.110 tolerated 0 Table S3Observed non-synonymous mutations in 1,092 individuals (246 are from Africans including Afro-Americans, 379 Europeans, 286 Asians and 181 Americans) from the 1000 Genomes dataset and frequencies and p-values of Hardy-Weinberg equilibrium test (overall and per population group when overall was significant). Frequencies Gene Uploaded Variation Co-located Variation All AFR AMR ASN EUR HW (pvalue) HW per groups (pvalue) AK2 1_33487277_T/C rs184683619 0.000 1.000 0.000 1.000 0.003 0.997 0.000 1.000 0.000 1.000 1.00000 AK2 1_33487007_C/T rs61750965 0.998 0.002 1.000 0.000 1.000 0.000 1.000 0.000 0.995 0.005 1.00000
AK2 1_33486974_G/A rs192209857 0.001 0.999 0.004 0.996 0.000 1.000 0.000 1.000 0.000 1.000 1.00000 AK2 1_33480172_C/T rs149227118 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.000 0.999 0.001 1.00000 AK2 1_33480161_C/T rs148421308 0.995 0.005 0.988 0.012 0.989 0.011 1.000 0.000 1.000 0.000 1.00000 AK2 1_33478891_C/T rs200179721 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.000 0.999 0.001 1.00000 AK2 1_33478877_C/T rs12116440 0.994 0.006 1.000 0.000 0.989 0.011 1.000 0.000 0.988 0.012 1.00000 AK2 1_33478853_C/G rs185081372 1.000 0.000 1.000 0.000 1.000 0.000 0.998 0.002 1.000 0.000 1.00000 AK3 9_4719182_C/A rs188377589 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 AK3 9_4719161_T/A rs141090350 0.000 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.001 0.999 1.00000 AK3 9_4718440_T/G rs151087607 0.002 0.998 0.006 0.994 0.006 0.994 0.000 1.000 0.000 1.000 1.00000 AK3 9_4713058_G/A rs140003401 0.001 0.999 0.004 0.996 0.000 1.000 0.000 1.000 0.000 1.000 1.00000 AK4 1_65614154_T/A rs17853973 0.207 0.793 0.520 0.480 0.066 0.934 0.274 0.726 0.020 0.980 0.00000 AFR-0.70376; AMR1.00000; ASN0.05546; EUR1.00000 AK4 1_65684463_G/A rs200696544 0.000 1.000 0.000 1.000 0.003 0.997 0.000 1.000 0.000 1.000 1.00000 AK4 1_65684545_G/A rs142956995 0.001 0.999 0.000 1.000 0.000 1.000 0.003 0.997 0.000 1.000 1.00000 AK4 1_65690489_G/A rs185251178 0.000 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.001 0.999 1.00000 AK4 1_65691837_A/G rs201234545 1.000 0.000 1.000 0.000 1.000 0.000 0.998 0.002 1.000 0.000 1.00000 ATP5A1 18_43678173_C/T rs141639003 0.996 0.004 1.000 0.000 0.986 0.014 0.995 0.005 1.000 0.000 1.00000 ATP5A1 18_43678172_G/A rs200039737 0.000 1.000 0.000 1.000 0.003 0.997 0.000 1.000 0.000 1.000 1.00000 ATP5A1 18_43675064_C/A rs79011243 0.019 0.981 0.077 0.923 0.008 0.992 0.000 1.000 0.000 1.000 1.00000 ATP5A1 18_43675046_C/T rs189208584 0.999 0.001 0.996 0.004 1.000 0.000 1.000 0.000 1.000 0.000 1.00000 ATP5A1 18_43669662_G/C rs11541929 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5A1 18_43668207_T/C rs77958705 0.007 0.993 0.014 0.986 0.000 1.000 0.000 1.000 0.012 0.988 1.00000 ATP5B 12_57039713_G/A rs200568028 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5B 12_57039675_A/G rs144845797 1.000 0.000 0.998 0.002 1.000 0.000 1.000 0.000 1.000 0.000 1.00000 ATP5B 12_57039674_G/A rs2293450 0.001 0.999 0.000 1.000 0.000 1.000 0.003 0.997 0.000 1.000 1.00000 ATP5B 12_57039080_C/T rs41291993 0.967 0.033 0.998 0.002 0.981 0.019 0.897 0.103 0.992 0.008 0.33934 ATP5B 12_57037309_C/T rs200966693 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.000 0.999 0.001 1.00000
ATP5B 12_57037209_T/C rs142007312 0.000 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.001 0.999 1.00000 ATP5B 12_57032995_G/A rs200610844 0.000 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.001 0.999 1.00000 ATP5B 12_57032900_C/A rs145015204 0.000 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.001 0.999 1.00000 ATP5C1 10_7838106_A/G rs199602842 0.999 0.001 1.000 0.000 1.000 0.000 0.997 0.003 1.000 0.000 1.00000 ATP5C1 10_7840983_C/T rs146307767 0.999 0.001 0.996 0.004 1.000 0.000 1.000 0.000 1.000 0.000 1.00000 ATP5C1 10_7841811_A/G rs139967528 1.000 0.000 0.998 0.002 1.000 0.000 1.000 0.000 1.000 0.000 1.00000 ATP5C1 10_7844268_G/A rs199960374 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5C1 10_7844756_C/T rs137988284 1.000 0.000 1.000 0.000 1.000 0.000 0.998 0.002 1.000 0.000 1.00000 ATP5D 19_1241932_C/T rs199988557 0.999 0.001 0.994 0.006 1.000 0.000 1.000 0.000 1.000 0.000 1.00000 ATP5D 19_1244170_A/G rs200344400 0.998 0.002 1.000 0.000 1.000 0.000 0.993 0.007 1.000 0.000 1.00000 ATP5D 19_1244401_G/A rs200593395 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5E 20_57605431_G/T rs146230809 1.000 0.000 0.998 0.002 1.000 0.000 1.000 0.000 1.000 0.000 1.00000 ATP5EP2 13_28519416_A/G rs7334094 0.992 0.008 0.967 0.033 0.997 0.003 1.000 0.000 1.000 0.000 1.00000 ATP5F1 1_111998734_A/G rs151112830 0.997 0.003 1.000 0.000 0.994 0.006 1.000 0.000 0.993 0.007 1.00000 ATP5F1 1_111999312_A/G rs150276317 0.996 0.004 1.000 0.000 1.000 0.000 0.986 0.014 1.000 0.000 1.00000 ATP5F1 1_111999319_C/T rs1264895 0.998 0.002 0.994 0.006 1.000 0.000 1.000 0.000 0.999 0.001 1.00000 ATP5F1 1_112002094_G/A rs144377157 0.000 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.001 0.999 1.00000 ATP5F1 1_112002202_G/C rs182170395 0.000 1.000 0.000 1.000 0.003 0.997 0.000 1.000 0.000 1.000 1.00000 ATP5F1 1_112002232_G/A rs146878380 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5G1 17_46970783_C/G rs201139259 1.000 0.000 1.000 0.000 1.000 0.000 0.998 0.002 1.000 0.000 1.00000 ATP5G2 12_54069975_A/G rs201675029 1.000 0.000 1.000 0.000 1.000 0.000 0.998 0.002 1.000 0.000 1.00000 ATP5G2 12_54063677_C/T rs140613495 1.000 0.000 0.998 0.002 1.000 0.000 1.000 0.000 1.000 0.000 1.00000 ATP5G2 12_54063056_C/T rs145981161 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.000 0.999 0.001 1.00000 ATP5G3 2_176046090_G/A rs142182201 0.001 0.999 0.000 1.000 0.000 1.000 0.000 1.000 0.003 0.997 1.00000 ATP5G3 2_176044863_G/A rs144490355 0.000 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.001 0.999 1.00000 ATP5G3 2_176043906_T/C rs36089250 0.002 0.998 0.000 1.000 0.000 1.000 0.007 0.993 0.001 0.999 1.00000 ATP5H 17_73038667_T/G rs200410651 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5H 17_73038316_T/C rs143915019 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5I 4_668015_A/G rs143075692 1.000 0.000 0.998 0.002 1.000 0.000 1.000 0.000 1.000 0.000 1.00000
ATP5I 4_668009_G/A rs76028807 0.007 0.993 0.000 1.000 0.003 0.997 0.000 1.000 0.020 0.980 1.00000 ATP5I 4_667134_T/G rs147287885 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5I 4_667115_C/T rs181881252 1.000 0.000 0.998 0.002 1.000 0.000 1.000 0.000 1.000 0.000 1.00000 ATP5J 21_27102014_G/C rs73338261 0.008 0.992 0.035 0.965 0.000 1.000 0.000 1.000 0.000 1.000 0.06084 ATP5J 21_27097641_T/G rs182225698 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5J2 7_99063760_G/A rs201512015 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5J2 7_99063739_G/C rs117298057 0.004 0.996 0.000 1.000 0.000 1.000 0.000 1.000 0.011 0.989 1.00000 ATP5J2 7_99056770_T/G rs146584377 0.000 1.000 0.002 0.998 0.000 1.000 0.000 1.000 0.000 1.000 1.00000 ATP5J2 7_99055969_C/T rs144185727 0.999 0.001 1.000 0.000 0.997 0.003 1.000 0.000 0.997 0.003 1.00000 ATP5L 11_118277742_G/C rs181465227 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5L 11_118279769_G/A rs200472961 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5L2 22_43036264_C/T rs148856876 0.996 0.004 0.986 0.014 0.997 0.003 1.000 0.000 1.000 0.000 1.00000 ATP5L2 22_43035994_C/G rs145437748 0.999 0.001 1.000 0.000 0.994 0.006 1.000 0.000 1.000 0.000 1.00000 ATP5O 21_35288061_C/T rs202191698 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.000 0.999 0.001 1.00000 ATP5O 21_35288049_A/G rs201852944 1.000 0.000 1.000 0.000 0.997 0.003 1.000 0.000 1.000 0.000 1.00000 ATP5O 21_35286801_G/C rs190343471 0.001 0.999 0.000 1.000 0.008 0.992 0.000 1.000 0.000 1.000 1.00000 ATP5O 21_35281496_T/C rs140827929 0.005 0.995 0.000 1.000 0.008 0.992 0.000 1.000 0.009 0.991 1.00000 ATP5O 21_35281461_G/A rs150994121 0.000 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.001 0.999 1.00000 ATP5O 21_35281421_T/C rs4842 0.071 0.929 0.120 0.880 0.058 0.942 0.014 0.986 0.090 0.910 0.81887 ATP5O 21_35279713_C/T rs190233927 1.000 0.000 0.998 0.002 1.000 0.000 1.000 0.000 1.000 0.000 1.00000 ATP5O 21_35275939_T/C rs182975028 0.001 0.999 0.000 1.000 0.006 0.994 0.000 1.000 0.000 1.000 1.00000 ATP5O 21_35275936_G/A rs191960490 0.000 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.001 0.999 1.00000 ATP5O 21_35275931_T/C rs141125740 0.000 1.000 0.002 0.998 0.000 1.000 0.000 1.000 0.000 1.000 1.00000 ATP5O 21_35275914_A/C rs11552279 1.000 0.000 0.998 0.002 1.000 0.000 1.000 0.000 1.000 0.000 1.00000 ATP5O 21_35275907_T/C rs75701641 0.004 0.996 0.018 0.982 0.000 1.000 0.000 1.000 0.000 1.000 1.00000 ATP5O 21_35275835_C/A rs142550850 0.001 0.999 0.004 0.996 0.000 1.000 0.000 1.000 0.000 1.000 1.00000 ATP5S 14_50779764_G/A rs192355817 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5S 14_50788213_C/T rs2275592 0.435 0.565 0.463 0.537 0.442 0.558 0.399 0.601 0.439 0.561 0.53751 ATP5S 14_50788240_G/A rs201427439 0.000 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.001 0.999 1.00000
ATP5S 14_50789309_G/A rs185659761 0.002 0.998 0.008 0.992 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 ATP5S 14_50789387_C/T rs142828913 0.997 0.003 0.990 0.010 0.997 0.003 1.000 0.000 1.000 0.000 1.00000 ATP5S 14_50789401_G/A rs140662926 0.000 1.000 0.002 0.998 0.000 1.000 0.000 1.000 0.000 1.000 1.00000 ATP5S 14_50789426_T/C rs192482233 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 COX10 17_13972938_C/T rs199881731 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.000 0.999 0.001 1.00000 COX10 17_13977679_C/T rs16948978 0.978 0.022 0.904 0.096 0.994 0.006 1.000 0.000 1.000 0.000 0.42405 COX10 17_13977689_C/A rs141481210 0.001 0.999 0.000 1.000 0.003 0.997 0.000 1.000 0.001 0.999 1.00000 COX10 17_13980058_A/T rs2230351 0.929 0.071 0.994 0.006 0.909 0.091 0.878 0.122 0.934 0.066 0.25426 COX10 17_13980134_C/T rs144000161 0.998 0.002 1.000 0.000 1.000 0.000 0.991 0.009 1.000 0.000 1.00000 COX10 17_13980164_A/G rs16948986 0.978 0.022 0.904 0.096 0.994 0.006 1.000 0.000 1.000 0.000 0.42282 COX10 17_13980176_C/T rs145948285 0.997 0.003 0.998 0.002 1.000 0.000 0.991 0.009 1.000 0.000 1.00000 COX10 17_13980185_C/T rs202207627 0.999 0.001 1.000 0.000 1.000 0.000 0.998 0.002 0.999 0.001 1.00000 COX10 17_13980254_T/C rs201424119 0.000 1.000 0.000 1.000 0.003 0.997 0.000 1.000 0.000 1.000 1.00000 COX10 17_13980350_G/A rs8077302 0.488 0.512 0.465 0.535 0.506 0.494 0.453 0.547 0.520 0.480 0.20325 COX10 17_14005467_G/T rs200373790 1.000 0.000 0.998 0.002 1.000 0.000 1.000 0.000 1.000 0.000 1.00000 COX10 17_14005498_G/A rs200827701 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 COX10 17_14063243_C/T rs104894556 1.000 0.000 1.000 0.000 1.000 0.000 0.998 0.002 1.000 0.000 1.00000 COX10 17_14063251_C/T rs114521946 0.993 0.007 0.972 0.028 0.997 0.003 0.998 0.002 1.000 0.000 1.00000 COX10 17_14110129_G/A rs200472593 0.000 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.001 0.999 1.00000 COX10 17_14110267_G/T rs188087012 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.000 0.999 0.001 1.00000 COX10 17_14110294_G/T rs111541535 0.997 0.003 0.998 0.002 1.000 0.000 1.000 0.000 0.992 0.008 1.00000 COX10 17_14110397_A/G rs200260465 1.000 0.000 1.000 0.000 0.997 0.003 1.000 0.000 1.000 0.000 1.00000 COX10 17_14110489_C/T rs113058506 0.998 0.002 0.996 0.004 1.000 0.000 1.000 0.000 0.997 0.003 1.00000 COX11 17_53045947_G/A rs73990239 0.002 0.998 0.008 0.992 0.000 1.000 0.000 1.000 0.000 1.000 1.00000 COX11 17_53045787_G/A rs34080917 0.005 0.995 0.022 0.978 0.000 1.000 0.000 1.000 0.000 1.000 1.00000 COX11 17_53040677_T/C rs199579556 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 COX11 17_53040119_T/A rs200586356 0.000 1.000 0.000 1.000 0.000 1.000 0.000 1.000 0.001 0.999 1.00000 COX15 10_101487264_G/A rs144644373 0.000 1.000 0.002 0.998 0.000 1.000 0.000 1.000 0.000 1.000 1.00000 COX15 10_101486775_G/A rs192078749 0.000 1.000 0.002 0.998 0.000 1.000 0.000 1.000 0.000 1.000 1.00000
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UQCRH 1_46774783_A/G rs41292543 0.951 0.049 0.992 0.008 0.923 0.077 1.000 0.000 0.900 0.100 0.00342 AFR-1.00000; AMR0.28155; ASNMonomorphic; EUR0.24299 UQCRH 1_46775905_G/A rs189114560 0.000 1.000 0.000 1.000 0.003 0.997 0.000 1.000 0.000 1.000 1.00000 UQCRH 1_46775975_C/A rs181971906 0.000 1.000 0.000 1.000 0.000 1.000 0.002 0.998 0.000 1.000 1.00000 UQCRQ 5_132202583_G/A rs137995316 0.000 1.000 0.002 0.998 0.000 1.000 0.000 1.000 0.000 1.000 1.00000 Table S4GeneBank accession numbers of mtDNA sequences used. AF346963 AY339422 DQ137403 EF153813 EU095236 EU849091 FJ383594 FJ951574 GU733823 HM771160 HQ681883 JN857049 JQ324761 JQ702300 JQ703003 JQ703703 JQ704403 JQ705103 JQ705803 AF346964 AY339423 DQ137404 EF153814 EU095238 EU855118 FJ383595 FJ951575 GU733824 HM771161 HQ681884 JN857050 JQ324762 JQ702301 JQ703004 JQ703704 JQ704404 JQ705104 JQ705804 AF346965 AY339424 DQ137405 EF153815 EU095239 EU862197 FJ383596 FJ951576 GU733825 HM771162 HQ686079 JN857051 JQ324763 JQ702302 JQ703005 JQ703705 JQ704405 JQ705105 JQ705805 AF346966 AY339425 DQ137406 EF153816 EU095240 EU862198 FJ383597 FJ951577 GU733826 HM771163 HQ695930 JN857052 JQ324764 JQ702303 JQ703006 JQ703706 JQ704406 JQ705106 JQ705806 AF346967 AY339426 DQ137407 EF153817 EU095241 EU869314 FJ383598 FJ951578 GU797136 HM771164 HQ696458 JN857053 JQ324765 JQ702304 JQ703007 JQ703707 JQ704407 JQ705107 JQ705807 AF346968 AY339427 DQ137408 EF153818 EU095242 EU882063 FJ383599 FJ951579 GU797137 HM771165 HQ696459 JN857054 JQ324766 JQ702305 JQ703008 JQ703708 JQ704408 JQ705108 JQ705808 AF346969 AY339428 DQ137409 EF153819 EU095243 EU884127 FJ383600 FJ951580 GU797476 HM771166 HQ696491 JN857055 JQ324767 JQ702306 JQ703009 JQ703709 JQ704409 JQ705109 JQ705809 AF346970 AY339429 DQ137410 EF153820 EU095244 EU910091 FJ383601 FJ951581 GU797785 HM771167 HQ698266 JN857056 JQ324768 JQ702307 JQ703010 JQ703710 JQ704410 JQ705110 JQ705810 AF346971 AY339430 DQ137411 EF153821 EU095245 EU914954 FJ383602 FJ951582 GU797829 HM771168 HQ698894 JN857057 JQ324769 JQ702308 JQ703011 JQ703711 JQ704411 JQ705111 JQ705811 AF346972 AY339431 DQ149511 EF153822 EU095246 EU919746 FJ383603 FJ951583 GU799583 HM771169 HQ699438 JN857058 JQ324770 JQ702309 JQ703012 JQ703712 JQ704412 JQ705112 JQ705812 AF346973 AY339432 DQ149512 EF153823 EU095247 EU926147 FJ383604 FJ951584 GU808335 HM771170 HQ699439 JN857059 JQ324771 JQ702310 JQ703013 JQ703713 JQ704413 JQ705113 JQ705813 AF346974 AY339433 DQ149513 EF153824 EU095248 EU926618 FJ383605 FJ951585 GU810005 HM771171 HQ700378 JN857060 JQ324772 JQ702311 JQ703014 JQ703714 JQ704414 JQ705114 JQ705814 AF346975 AY339434 DQ149514 EF153825 EU095249 EU926621 FJ383606 FJ951586 GU810006 HM771172 HQ703482 JN857061 JQ324773 JQ702312 JQ703015 JQ703715 JQ704415 JQ705115 JQ705815 AF346976 AY339435 DQ149515 EF153826 EU095250 EU926622 FJ383607 FJ951587 GU810007 HM771173 HQ704899 JN857062 JQ324774 JQ702313 JQ703016 JQ703716 JQ704416 JQ705116 JQ705816 AF346977 AY339436 DQ149516 EF153827 EU095251 EU931680 FJ383608 FJ951588 GU810008 HM771174 HQ707396 JN857063 JQ324775 JQ702314 JQ703017 JQ703717 JQ704417 JQ705117 JQ705817 AF346978 AY339437 DQ149517 EF153828 EU095526 EU935433 FJ383609 FJ951589 GU810009 HM771175 HQ709100 JN858955 JQ324776 JQ702315 JQ703018 JQ703718 JQ704418 JQ705118 JQ705818 AF346979 AY339438 DQ149518 EF153829 EU095527 EU935434 FJ383610 FJ951590 GU810010 HM771176 HQ709108 JN867338 JQ324777 JQ702316 JQ703019 JQ703719 JQ704419 JQ705119 JQ705819 AF346980 AY339439 DQ149519 EF153830 EU095528 EU935435 FJ383611 FJ951591 GU810011 HM771177 HQ709168 JN880467 JQ324778 JQ702317 JQ703020 JQ703720 JQ704420 JQ705120 JQ705820 AF346981 AY339440 DQ149520 EF153831 EU095529 EU935436 FJ383612 FJ951592 GU810012 HM771178 HQ711364 JN887353 JQ324779 JQ702318 JQ703021 JQ703721 JQ704421 JQ705121 JQ705821 AF346982 AY339441 DQ156209 EF153832 EU095530 EU935437 FJ383613 FJ951593 GU810013 HM771179 HQ714959 JN897373 JQ324780 JQ702319 JQ703022 JQ703722 JQ704422 JQ705122 JQ705822 AF346983 AY339442 DQ156210 EF153833 EU095531 EU935438 FJ383615 FJ951594 GU810014 HM771180 HQ718586 JN897374 JQ324781 JQ702320 JQ703023 JQ703723 JQ704423 JQ705123 JQ705823 AF346984 AY339443 DQ200801 EF177425 EU095532 EU935439 FJ383616 FJ951595 GU810015 HM771181 HQ724528 JN897375 JQ324782 JQ702321 JQ703024 JQ703724 JQ704424 JQ705124 JQ705824 AF346985 AY339444 DQ200802 EF177426 EU095533 EU935440 FJ383617 FJ951596 GU810016 HM771182 HQ727682 JN899289 JQ324783 JQ702322 JQ703025 JQ703725 JQ704425 JQ705125 JQ705825
AF346986 AY339445 DQ200803 EF177427 EU095534 EU935441 FJ383618 FJ951597 GU810017 HM771183 HQ729918 JN899290 JQ324784 JQ702323 JQ703026 JQ703726 JQ704426 JQ705126 JQ705826 AF346987 AY339446 DQ200804 EF177428 EU095535 EU935442 FJ383619 FJ951598 GU810018 HM771184 HQ730608 JN899566 JQ324785 JQ702324 JQ703027 JQ703727 JQ704427 JQ705127 JQ705827 AF346988 AY339447 DQ200805 EF177429 EU095536 EU935443 FJ383620 FJ951599 GU810019 HM771185 HQ839858 JN899603 JQ324786 JQ702325 JQ703028 JQ703728 JQ704428 JQ705128 JQ705828 AF346989 AY339448 DQ272107 EF177430 EU095537 EU935444 FJ383621 FJ951600 GU810020 HM771186 HQ839860 JN903384 JQ324787 JQ702326 JQ703029 JQ703729 JQ704429 JQ705129 JQ705829 AF346990 AY339449 DQ272108 EF177431 EU095538 EU935445 FJ383622 FJ951601 GU810021 HM771187 HQ839861 JN942526 JQ324788 JQ702327 JQ703030 JQ703730 JQ704430 JQ705130 JQ705830 AF346991 AY339450 DQ272109 EF177432 EU095539 EU935446 FJ383623 FJ951602 GU810022 HM771188 HQ840339 JN966735 JQ324789 JQ702328 JQ703031 JQ703731 JQ704431 JQ705131 JQ705831 AF346992 AY339451 DQ272110 EF177433 EU095540 EU935447 FJ383624 FJ951603 GU810023 HM771189 HQ840514 JN969086 JQ324790 JQ702329 JQ703032 JQ703732 JQ704432 JQ705132 JQ705832 AF346993 AY339452 DQ272111 EF177434 EU095541 EU935448 FJ383625 FJ951604 GU810024 HM771190 HQ840516 JN969087 JQ324791 JQ702330 JQ703033 JQ703733 JQ704433 JQ705133 JQ705833 AF346994 AY339453 DQ272112 EF177435 EU095542 EU935449 FJ383626 FJ951605 GU810025 HM771191 HQ840646 JN969984 JQ324792 JQ702331 JQ703034 JQ703734 JQ704434 JQ705134 JQ705834 AF346995 AY339454 DQ272113 EF177436 EU095543 EU935450 FJ383627 FJ951606 GU810026 HM771192 HQ841014 JN975412 JQ324793 JQ702332 JQ703035 JQ703735 JQ704435 JQ705135 JQ705835 AF346996 AY339455 DQ272114 EF177437 EU095544 EU935451 FJ383628 FJ951607 GU810027 HM771193 HQ842871 JN982470 JQ324794 JQ702333 JQ703036 JQ703736 JQ704436 JQ705136 JQ705836 AF346997 AY339456 DQ272115 EF177438 EU095545 EU935452 FJ383629 FJ951608 GU810028 HM771194 HQ843088 JN990448 JQ324795 JQ702334 JQ703037 JQ703737 JQ704437 JQ705137 JQ705837 AF346998 AY339457 DQ272116 EF177439 EU095546 EU935453 FJ383630 FJ951609 GU810029 HM771195 HQ843176 JQ002593 JQ324796 JQ702335 JQ703038 JQ703738 JQ704438 JQ705138 JQ705838 AF346999 AY339458 DQ272117 EF177440 EU095547 EU935454 FJ383631 FJ951610 GU810030 HM771196 HQ843503 JQ013811 JQ324797 JQ702336 JQ703039 JQ703739 JQ704439 JQ705139 JQ705839 AF347000 AY339459 DQ272118 EF177441 EU095548 EU935455 FJ383632 FJ951611 GU810031 HM771197 HQ843989 JQ014004 JQ324798 JQ702337 JQ703040 JQ703740 JQ704440 JQ705140 JQ705840 AF347001 AY339460 DQ272119 EF177442 EU095549 EU935456 FJ383633 FJ951612 GU810032 HM771198 HQ844516 JQ025225 JQ324799 JQ702338 JQ703041 JQ703741 JQ704441 JQ705141 JQ705841 AF347002 AY339461 DQ272120 EF177443 EU095550 EU935457 FJ383634 FJ951613 GU810033 HM771199 HQ844617 JQ027716 JQ324800 JQ702339 JQ703042 JQ703742 JQ704442 JQ705142 JQ705842 AF347003 AY339462 DQ272121 EF177444 EU095551 EU935458 FJ383635 FJ951614 GU810034 HM771200 HQ848079 JQ028728 JQ324801 JQ702340 JQ703043 JQ703743 JQ704443 JQ705143 JQ705843 AF347004 AY339463 DQ272122 EF177445 EU095552 EU935459 FJ383636 FJ951615 GU810035 HM771201 HQ850865 JQ031759 JQ324802 JQ702341 JQ703044 JQ703744 JQ704444 JQ705144 JQ705844 AF347005 AY339464 DQ272123 EF177446 EU124886 EU935460 FJ383637 FJ951616 GU810036 HM771202 HQ860291 JQ031816 JQ324803 JQ702342 JQ703045 JQ703745 JQ704445 JQ705145 JQ705845 AF347006 AY339465 DQ272124 EF177447 EU130551 EU935461 FJ383638 FJ951617 GU810037 HM771203 HQ864470 JQ044792 JQ324804 JQ702343 JQ703046 JQ703746 JQ704446 JQ705146 JQ705846 AF347007 AY339466 DQ272125 EF185793 EU130562 EU935462 FJ383639 FJ951618 GU810038 HM771204 HQ873489 JQ044794 JQ324805 JQ702344 JQ703047 JQ703747 JQ704447 JQ705147 JQ705847 AF347008 AY339467 DQ272126 EF185794 EU130564 EU935463 FJ383640 FJ966243 GU810039 HM771205 HQ873490 JQ044795 JQ324806 JQ702345 JQ703048 JQ703748 JQ704448 JQ705148 JQ705848 AF347009 AY339468 DQ282387 EF185795 EU130575 EU935464 FJ383641 FJ966912 GU810040 HM771206 HQ873491 JQ044796 JQ324807 JQ702346 JQ703049 JQ703749 JQ704449 JQ705149 JQ705849 AF347010 AY339469 DQ282388 EF185796 EU130681 EU935465 FJ383642 FJ968772 GU810041 HM771207 HQ873492 JQ044797 JQ324808 JQ702347 JQ703050 JQ703750 JQ704450 JQ705150 JQ705850 AF347011 AY339470 DQ282389 EF185797 EU130942 EU935466 FJ383643 FJ968773 GU810042 HM771208 HQ873493 JQ044798 JQ324809 JQ702348 JQ703051 JQ703751 JQ704451 JQ705151 JQ705851 AF347012 AY339471 DQ282390 EF185798 EU131366 EU935467 FJ383644 FJ968774 GU810043 HM771209 HQ873494 JQ044799 JQ324810 JQ702349 JQ703052 JQ703752 JQ704452 JQ705152 JQ705852 AF347013 AY339472 DQ282391 EF185799 EU135972 EU935845 FJ383645 FJ968775 GU810044 HM771210 HQ873495 JQ044800 JQ324811 JQ702350 JQ703053 JQ703753 JQ704453 JQ705153 JQ705853 AF347014 AY339473 DQ282392 EF185800 EU135973 EU979418 FJ383646 FJ968795 GU810045 HM771211 HQ873496 JQ044801 JQ324812 JQ702351 JQ703054 JQ703754 JQ704454 JQ705154 JQ705854 AF347015 AY339474 DQ282393 EF185801 EU140330 EU979542 FJ383647 FJ968796 GU810046 HM771212 HQ873497 JQ044802 JQ324813 JQ702352 JQ703055 JQ703755 JQ704455 JQ705155 JQ705855 AF381981 AY339475 DQ282394 EF185802 EU140332 EU980593 FJ383648 FJ979865 GU810047 HM771213 HQ873498 JQ044804 JQ324814 JQ702353 JQ703056 JQ703756 JQ704456 JQ705156 JQ705856 AF381982 AY339476 DQ282395 EF185803 EU140744 FJ004804 FJ383649 FJ984932 GU810048 HM771214 HQ873499 JQ044805 JQ324815 JQ702354 JQ703057 JQ703757 JQ704457 JQ705157 JQ705857 AF381983 AY339477 DQ282396 EF185804 EU140898 FJ004805 FJ383650 FJ985851 GU810049 HM771215 HQ873500 JQ044806 JQ324816 JQ702355 JQ703058 JQ703758 JQ704458 JQ705158 JQ705858 AF381984 AY339478 DQ282397 EF185805 EU148452 FJ004806 FJ383651 FJ999540 GU810050 HM771216 HQ873501 JQ044807 JQ324817 JQ702356 JQ703059 JQ703759 JQ704459 JQ705159 JQ705859 AF381985 AY339479 DQ282398 EF185806 EU148486 FJ004807 FJ383652 GQ119007 GU810051 HM771217 HQ873502 JQ044808 JQ324818 JQ702357 JQ703060 JQ703760 JQ704460 JQ705160 JQ705860 AF381986 AY339480 DQ282399 EF185807 EU150187 FJ004808 FJ383653 GQ119008 GU810052 HM771218 HQ873503 JQ044809 JQ324819 JQ702358 JQ703061 JQ703761 JQ704461 JQ705161 JQ705861
AF381987 AY339481 DQ282400 EF185808 EU151553 FJ004809 FJ383654 GQ119009 GU810053 HM771219 HQ873504 JQ044810 JQ324820 JQ702359 JQ703062 JQ703762 JQ704462 JQ705162 JQ705862 AF381988 AY339482 DQ282401 EF185809 EU151864 FJ004810 FJ383655 GQ119010 GU810054 HM771220 HQ873505 JQ044811 JQ324821 JQ702360 JQ703063 JQ703763 JQ704463 JQ705163 JQ705863 AF381989 AY339483 DQ282402 EF185810 EU154342 FJ004811 FJ383656 GQ119011 GU810055 HM771221 HQ873506 JQ044812 JQ324822 JQ702361 JQ703064 JQ703764 JQ704464 JQ705164 JQ705864 AF381990 AY339484 DQ282403 EF185811 EU155191 FJ004812 FJ383657 GQ119012 GU810056 HM771222 HQ873507 JQ044813 JQ324823 JQ702362 JQ703065 JQ703765 JQ704465 JQ705165 JQ705865 AF381991 AY339485 DQ282404 EF185812 EU156036 FJ004813 FJ383658 GQ119013 GU810057 HM771223 HQ873508 JQ044814 JQ324824 JQ702363 JQ703066 JQ703766 JQ704466 JQ705166 JQ705866 AF381992 AY339486 DQ282405 EF185813 EU157918 FJ004814 FJ383659 GQ119014 GU810058 HM771224 HQ873509 JQ044815 JQ324825 JQ702364 JQ703067 JQ703767 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AY289058 AY922283 EF093536 EU092944 EU698951 FJ383529 FJ951509 GU733753 HM596712 HQ658132 JN655835 JQ324696 JQ702235 JQ702938 JQ703638 JQ704338 JQ705038 JQ705738 AY289059 AY922284 EF093537 EU092945 EU700086 FJ383530 FJ951510 GU733754 HM596713 HQ658133 JN655836 JQ324697 JQ702236 JQ702939 JQ703639 JQ704339 JQ705039 JQ705739 AY289060 AY922285 EF093538 EU092946 EU703624 FJ383531 FJ951511 GU733755 HM596714 HQ658354 JN655837 JQ324698 JQ702237 JQ702940 JQ703640 JQ704340 JQ705040 JQ705740 AY289061 AY922286 EF093539 EU092947 EU714270 FJ383532 FJ951512 GU733756 HM596745 HQ658454 JN655838 JQ324699 JQ702238 JQ702941 JQ703641 JQ704341 JQ705041 JQ705741 AY289062 AY922287 EF093540 EU092948 EU714298 FJ383533 FJ951513 GU733757 HM598686 HQ658464 JN655839 JQ324700 JQ702239 JQ702942 JQ703642 JQ704342 JQ705042 JQ705742 AY289063 AY922288 EF093541 EU092949 EU714299 FJ383534 FJ951514 GU733758 HM600785 HQ658465 JN655840 JQ324701 JQ702240 JQ702943 JQ703643 JQ704343 JQ705043 JQ705743 AY289064 AY922289 EF093542 EU092950 EU714300 FJ383535 FJ951515 GU733759 HM622671 HQ658466 JN655841 JQ324702 JQ702241 JQ702944 JQ703644 JQ704344 JQ705044 JQ705744 AY289065 AY922290 EF093543 EU092951 EU715237 FJ383536 FJ951516 GU733760 HM625678 HQ658472 JN655842 JQ324703 JQ702242 JQ702945 JQ703645 JQ704345 JQ705045 JQ705745 AY289066 AY922291 EF093544 EU092952 EU715287 FJ383537 FJ951517 GU733761 HM625679 HQ658474 JN657206 JQ324704 JQ702243 JQ702946 JQ703646 JQ704346 JQ705046 JQ705746 AY289067 AY922292 EF093545 EU092953 EU716647 FJ383538 FJ951518 GU733762 HM625680 HQ658476 JN660158 JQ324705 JQ702244 JQ702947 JQ703647 JQ704347 JQ705047 JQ705747 AY289068 AY922293 EF093546 EU092954 EU718789 FJ383539 FJ951519 GU733763 HM625681 HQ658477 JN663354 JQ324706 JQ702245 JQ702948 JQ703648 JQ704348 JQ705048 JQ705748 AY289069 AY922294 EF093547 EU092955 EU719115 FJ383540 FJ951520 GU733764 HM627319 HQ658478 JN663830 JQ324707 JQ702246 JQ702949 JQ703649 JQ704349 JQ705049 JQ705749 AY289070 AY922295 EF093548 EU092956 EU719211 FJ383541 FJ951521 GU733766 HM627754 HQ658480 JN674560 JQ324708 JQ702247 JQ702950 JQ703650 JQ704350 JQ705050 JQ705750 AY289071 AY922296 EF093549 EU092957 EU721733 FJ383542 FJ951522 GU733767 HM628905 HQ658481 JN707685 JQ324709 JQ702248 JQ702951 JQ703651 JQ704351 JQ705051 JQ705751 AY289072 AY922297 EF093550 EU092958 EU721734 FJ383543 FJ951523 GU733768 HM636799 HQ658482 JN712772 JQ324710 JQ702249 JQ702952 JQ703652 JQ704352 JQ705052 JQ705752 AY289073 AY922298 EF093551 EU092959 EU725607 FJ383544 FJ951524 GU733769 HM636849 HQ658573 JN794568 JQ324711 JQ702250 JQ702953 JQ703653 JQ704353 JQ705053 JQ705753 AY289074 AY922299 EF093552 EU092960 EU725608 FJ383545 FJ951525 GU733770 HM640207 HQ658607 JN807313 JQ324712 JQ702251 JQ702954 JQ703654 JQ704354 JQ705054 JQ705754 AY289075 AY922300 EF093553 EU092961 EU725609 FJ383546 FJ951526 GU733771 HM641132 HQ658608 JN807323 JQ324713 JQ702252 JQ702955 JQ703655 JQ704355 JQ705055 JQ705755 AY289076 AY922301 EF093554 EU092962 EU725610 FJ383547 FJ951527 GU733772 HM771113 HQ658628 JN809915 JQ324714 JQ702253 JQ702956 JQ703656 JQ704356 JQ705056 JQ705756 AY289077 AY922302 EF093555 EU092963 EU725611 FJ383548 FJ951528 GU733773 HM771114 HQ658736 JN810911 JQ324715 JQ702254 JQ702957 JQ703657 JQ704357 JQ705057 JQ705757 AY289078 AY922303 EF093556 EU092964 EU725612 FJ383549 FJ951529 GU733774 HM771115 HQ658737 JN814516 JQ324716 JQ702255 JQ702958 JQ703658 JQ704358 JQ705058 JQ705758 AY289079 AY922304 EF093557 EU092965 EU725613 FJ383550 FJ951530 GU733775 HM771116 HQ658738 JN819272 JQ324717 JQ702256 JQ702959 JQ703659 JQ704359 JQ705059 JQ705759 AY289080 AY922305 EF093558 EU092966 EU725614 FJ383551 FJ951531 GU733776 HM771117 HQ659667 JN819535 JQ324718 JQ702257 JQ702960 JQ703660 JQ704360 JQ705060 JQ705760 AY289081 AY922306 EF153771 EU095194 EU725615 FJ383552 FJ951532 GU733777 HM771118 HQ659684 JN828512 JQ324719 JQ702258 JQ702961 JQ703661 JQ704361 JQ705061 JQ705761 AY289082 AY922307 EF153772 EU095195 EU725616 FJ383553 FJ951533 GU733778 HM771119 HQ659685 JN834028 JQ324720 JQ702259 JQ702962 JQ703662 JQ704362 JQ705062 JQ705762 AY289083 AY922308 EF153773 EU095196 EU725617 FJ383554 FJ951534 GU733779 HM771120 HQ659686 JN857009 JQ324721 JQ702260 JQ702963 JQ703663 JQ704363 JQ705063 JQ705763 AY289084 AY950286 EF153774 EU095197 EU725618 FJ383555 FJ951535 GU733780 HM771121 HQ659687 JN857010 JQ324722 JQ702261 JQ702964 JQ703664 JQ704364 JQ705064 JQ705764 AY289085 AY950287 EF153775 EU095198 EU725619 FJ383556 FJ951536 GU733781 HM771122 HQ659688 JN857011 JQ324723 JQ702262 JQ702965 JQ703665 JQ704365 JQ705065 JQ705765 AY289086 AY950288 EF153776 EU095199 EU725620 FJ383557 FJ951537 GU733782 HM771123 HQ659689 JN857012 JQ324724 JQ702263 JQ702966 JQ703666 JQ704366 JQ705066 JQ705766 AY289087 AY950289 EF153777 EU095200 EU725621 FJ383558 FJ951538 GU733783 HM771124 HQ659690 JN857013 JQ324725 JQ702264 JQ702967 JQ703667 JQ704367 JQ705067 JQ705767 AY289088 AY950290 EF153778 EU095201 EU742148 FJ383559 FJ951539 GU733784 HM771125 HQ659692 JN857014 JQ324726 JQ702265 JQ702968 JQ703668 JQ704368 JQ705068 JQ705768 AY289089 AY950291 EF153779 EU095202 EU742149 FJ383560 FJ951540 GU733785 HM771126 HQ659693 JN857015 JQ324727 JQ702266 JQ702969 JQ703669 JQ704369 JQ705069 JQ705769 AY289090 AY950292 EF153780 EU095203 EU742150 FJ383561 FJ951541 GU733786 HM771127 HQ659698 JN857016 JQ324728 JQ702267 JQ702970 JQ703670 JQ704370 JQ705070 JQ705770 AY289091 AY950293 EF153781 EU095204 EU742151 FJ383562 FJ951542 GU733787 HM771128 HQ659700 JN857017 JQ324729 JQ702268 JQ702971 JQ703671 JQ704371 JQ705071 JQ705771 AY289092 AY950294 EF153782 EU095205 EU742153 FJ383563 FJ951543 GU733788 HM771129 HQ659701 JN857018 JQ324730 JQ702269 JQ702972 JQ703672 JQ704372 JQ705072 JQ705772 AY289093 AY950295 EF153783 EU095206 EU742154 FJ383564 FJ951544 GU733789 HM771130 HQ659703 JN857019 JQ324731 JQ702270 JQ702973 JQ703673 JQ704373 JQ705073 JQ705773
AY289094 AY950296 EF153784 EU095207 EU742155 FJ383565 FJ951545 GU733790 HM771131 HQ659769 JN857020 JQ324732 JQ702271 JQ702974 JQ703674 JQ704374 JQ705074 JQ705774 AY289095 AY950297 EF153785 EU095208 EU742156 FJ383566 FJ951546 GU733791 HM771132 HQ659848 JN857021 JQ324733 JQ702272 JQ702975 JQ703675 JQ704375 JQ705075 JQ705775 AY289096 AY950298 EF153786 EU095209 EU742157 FJ383567 FJ951547 GU733792 HM771133 HQ659870 JN857022 JQ324734 JQ702273 JQ702976 JQ703676 JQ704376 JQ705076 JQ705776 AY289097 AY950299 EF153787 EU095210 EU742158 FJ383568 FJ951548 GU733794 HM771134 HQ660082 JN857023 JQ324735 JQ702274 JQ702977 JQ703677 JQ704377 JQ705077 JQ705777 AY289098 AY950300 EF153788 EU095211 EU742159 FJ383569 FJ951549 GU733795 HM771135 HQ660225 JN857024 JQ324736 JQ702275 JQ702978 JQ703678 JQ704378 JQ705078 JQ705778 AY289099 AY956412 EF153789 EU095212 EU742160 FJ383570 FJ951550 GU733796 HM771136 HQ660228 JN857025 JQ324737 JQ702276 JQ702979 JQ703679 JQ704379 JQ705079 JQ705779 AY289100 AY956413 EF153790 EU095213 EU742161 FJ383571 FJ951551 GU733797 HM771137 HQ660704 JN857026 JQ324738 JQ702277 JQ702980 JQ703680 JQ704380 JQ705080 JQ705780 AY289101 AY956414 EF153791 EU095214 EU742162 FJ383572 FJ951552 GU733798 HM771138 HQ661100 JN857027 JQ324739 JQ702278 JQ702981 JQ703681 JQ704381 JQ705081 JQ705781 AY289102 AY963572 EF153792 EU095215 EU742163 FJ383573 FJ951553 GU733799 HM771139 HQ661844 JN857028 JQ324740 JQ702279 JQ702982 JQ703682 JQ704382 JQ705082 JQ705782 AY339402 AY963573 EF153793 EU095216 EU744541 FJ383574 FJ951554 GU733800 HM771140 HQ661845 JN857029 JQ324741 JQ702280 JQ702983 JQ703683 JQ704383 JQ705083 JQ705783 AY339403 AY963574 EF153794 EU095217 EU744542 FJ383575 FJ951555 GU733802 HM771141 HQ661871 JN857030 JQ324742 JQ702281 JQ702984 JQ703684 JQ704384 JQ705084 JQ705784 AY339404 AY963575 EF153795 EU095218 EU744586 FJ383576 FJ951556 GU733803 HM771142 HQ662225 JN857031 JQ324743 JQ702282 JQ702985 JQ703685 JQ704385 JQ705085 JQ705785 AY339405 AY963576 EF153796 EU095219 EU746658 FJ383577 FJ951557 GU733804 HM771143 HQ662520 JN857032 JQ324744 JQ702283 JQ702986 JQ703686 JQ704386 JQ705086 JQ705786 AY339406 AY963577 EF153797 EU095220 EU747355 FJ383578 FJ951558 GU733805 HM771144 HQ663853 JN857033 JQ324745 JQ702284 JQ702987 JQ703687 JQ704387 JQ705087 JQ705787 AY339407 AY963578 EF153798 EU095221 EU747356 FJ383579 FJ951559 GU733806 HM771145 HQ663876 JN857034 JQ324746 JQ702285 JQ702988 JQ703688 JQ704388 JQ705088 JQ705788 AY339408 AY963579 EF153799 EU095222 EU753433 FJ383580 FJ951560 GU733807 HM771146 HQ663877 JN857035 JQ324747 JQ702286 JQ702989 JQ703689 JQ704389 JQ705089 JQ705789 AY339409 AY963580 EF153800 EU095223 EU760854 FJ383581 FJ951561 GU733808 HM771147 HQ663878 JN857036 JQ324748 JQ702287 JQ702990 JQ703690 JQ704390 JQ705090 JQ705790 AY339410 AY963581 EF153801 EU095224 EU768844 FJ383582 FJ951562 GU733809 HM771148 HQ667350 JN857037 JQ324749 JQ702288 JQ702991 JQ703691 JQ704391 JQ705091 JQ705791 AY339411 AY963582 EF153802 EU095225 EU770202 FJ383583 FJ951563 GU733810 HM771149 HQ667351 JN857038 JQ324750 JQ702289 JQ702992 JQ703692 JQ704392 JQ705092 JQ705792 AY339412 AY963583 EF153803 EU095226 EU770310 FJ383584 FJ951564 GU733811 HM771150 HQ667591 JN857039 JQ324751 JQ702290 JQ702993 JQ703693 JQ704393 JQ705093 JQ705793 AY339413 AY963584 EF153804 EU095227 EU779660 FJ383585 FJ951565 GU733812 HM771151 HQ670226 JN857040 JQ324752 JQ702291 JQ702994 JQ703694 JQ704394 JQ705094 JQ705794 AY339414 AY963585 EF153805 EU095228 EU780223 FJ383586 FJ951566 GU733813 HM771152 HQ671205 JN857041 JQ324753 JQ702292 JQ702995 JQ703695 JQ704395 JQ705095 JQ705795 AY339415 AY963586 EF153806 EU095229 EU784076 FJ383587 FJ951567 GU733814 HM771153 HQ674629 JN857042 JQ324754 JQ702293 JQ702996 JQ703696 JQ704396 JQ705096 JQ705796 AY339416 AY972053 EF153807 EU095230 EU787451 FJ383588 FJ951568 GU733815 HM771154 HQ676806 JN857043 JQ324755 JQ702294 JQ702997 JQ703697 JQ704397 JQ705097 JQ705797 AY339417 DQ137398 EF153808 EU095231 EU795361 FJ383589 FJ951569 GU733816 HM771155 HQ676807 JN857044 JQ324756 JQ702295 JQ702998 JQ703698 JQ704398 JQ705098 JQ705798 AY339418 DQ137399 EF153809 EU095232 EU825946 FJ383590 FJ951570 GU733817 HM771156 HQ677568 JN857045 JQ324757 JQ702296 JQ702999 JQ703699 JQ704399 JQ705099 JQ705799 AY339419 DQ137400 EF153810 EU095233 EU828638 FJ383591 FJ951571 GU733818 HM771157 HQ677712 JN857046 JQ324758 JQ702297 JQ703000 JQ703700 JQ704400 JQ705100 JQ705800 AY339420 DQ137401 EF153811 EU095234 EU828774 FJ383592 FJ951572 GU733819 HM771158 HQ677908 JN857047 JQ324759 JQ702298 JQ703001 JQ703701 JQ704401 JQ705101 JQ705801 AY339421 DQ137402 EF153812 EU095235 EU849002 FJ383593 FJ951573 GU733820 HM771159 HQ678685 JN857048 JQ324760 JQ702299 JQ703002 JQ703702 JQ704402 JQ705102 JQ705802
Table S5ProtParam data (from ExPASy) in the mtDNA and nDNA coded genes. Grand average of hydropathicity (GRAVY) Mean MutPred Number aa Molecular weight Theoretical PI Number of negatively charged residues (Asp + Glu) Number of positively charged residues (Arg + Lys) Extinction coefficient (M-1 cm-1, at 280 nm measured in water) Abs 0.1% (=1 g/l) Instability index Aliphatic index ATP6 0.952 0.6295 226 24817.2 10.09 4 10 20970 0.845 34.74 (stable) 144.65 ATP8 -0.36 0.5311 68 7991.6 9.92 1 7 19480 2.438 51.4 (unstable) 78.82 COX1 0.682 0.6631 513 57041.3 6.19 25 18 120780 2.117 28.97 (stable) 104.17 COX2 0.46 0.637 227 25565 4.67 22 10 35535 1.39 37.11 (stable) 117.27 COX3 0.377 0.6803 261 29950.7 6.78 10 8 82390 2.751 22.96 (stable) 91.92 CYTB 0.631 0.647 380 42717.5 7.83 15 16 91455 2.141 41.02 (unsatble) 118.89 ND1 0.682 0.6764 318 35660.5 6.11 15 14 70360 1.973 41.94 (unstable) 123.08 ND2 0.636 0.6175 347 38960.9 9.84 6 16 75400 1.935 34.35 (stable) 119.22 ND3 0.992 0.5951 115 13186 4.33 8 4 26470 2.007 50.62 (unstable) 140 ND4 0.727 0.6426 459 51580.9 9.4 12 20 90995 1.764 35.98 (stable) 128.58 ND4L 1.288 0.6173 98 10741.1 5.73 3 1 6085 0.567 46 (unstable) 146.33 ND5 0.589 0.6295 603 67026.5 9.14 20 20 90215 1.346 33.95 (stable) 116.7 ND6 1.071 0.5986 174 18622.1 4.18 13 5 43890 2.357 29.48 (stable) 125.75 AK2 -0.281 0.597 239 26477.7 7.67 33 34 7700 0.291 37.38 (stable) 88.62 AK3 -0.542 0.5729 157 18191.8 8.73 19 21 28420 1.562 39.01 (stable) 88.15 AK4 -0.376 0.6189 223 25268 8.47 26 28 27055 1.071 41.42 (unstable) 92.65 ATP5A1 -0.067 0.5985 553 59750.6 9.16 60 68 23965 0.401 30.82 (stable) 99.49 ATP5B 0.018 0.5826 529 56559.9 5.26 64 49 19370 0.342 37.51 (stable) 98.85 ATP5C1 -0.18 0.64 298 32996 9.23 34 41 27390 0.83 32.38 (stable) 93.72 ATP5D 0.233 0.537 168 17489.9 5.34 17 13 2980 0.17 37.59 (stable) 102.98 ATP5E -0.412 0.5755 51 5779.7 9.93 4 11 9970 1.725 6.32 (stable) 80.39 ATP5EP2 -0.373 0.57 51 5806.8 10.15 3 12 9970 1.717 2.99 (stable) 84.12 ATP5F1 -0.159 0.5608 256 28908.6 9.37 23 31 24870 0.86 36.65 (stable) 96.76 ATP5G1 0.641 0.5171 136 14276.7 9.81 4 10 4595 0.322 44.74 (unstable) 101.25 ATP5G2 0.717 0.4534 157 16334.2 9.22 7 11 3105 0.19 54.96 (unstable) 110.06 ATP5G3 0.573 0.512 142 14693 9.57 6 11 4595 0.313 32.82 (stable) 97.75 ATP5H -0.554 0.6356 161 18491.2 5.21 27 23 36440 1.971 34.21 (stable) 81.3
ATP5I -0.571 0.5199 69 7933.2 9.34 11 14 5960 0.751 52.32 (unstable) 96.23 ATP5J -0.478 0.6017 108 12587.5 9.52 14 18 2980 0.237 50.47 (unstable) 77.59 ATP5J2 -0.169 0.4608 94 10917.8 9.7 6 15 19035 1.743 37.56 (stable) 83.94 ATP5L 0.243 0.6361 103 11428.4 9.65 7 12 18450 1.614 29.07 (stable) 107.86 ATP5L2 0.211 0.6132 100 11036.9 9.91 6 12 16960 1.537 29.46 (stable) 105.3 ATP5O -0.02 0.6031 213 23277.3 9.97 17 31 7575 0.325 34.34 (stable) 101.55 ATP5S -0.383 0.4402 127 14666.8 6.79 15 15 35450 2.417 45.43 (unstable) 66.06 COX10 0.128 0.564 443 48910.1 9.36 29 44 73630 1.505 53 (unstable) 95.35 COX11 -0.421 0.528 276 31429.9 9.22 27 35 60765 1.933 59.63 (unstable) 69.64 COX15 0.168 0.5974 410 46030.2 9.85 26 44 81735 1.776 44.72 (unstable) 103.24 COX16 -0.767 0.3445 106 12293.2 9.49 16 21 15470 1.258 39.77 (stable) 73.58 COX17 -0.589 0.5503 63 6915.1 6.8 10 10 375 0.054 77.97 (unstable) 63.65 COX18 0.308 0.5701 333 37062.6 9.86 18 32 79660 2.149 53.22 (unstable) 110.45 COX4I1 -0.459 0.5971 169 19576.7 9.52 20 28 40450 2.066 26.91 (stable) 72.66 COX4I2 -0.674 0.5531 171 20010 9.65 17 27 49055 2.452 56.36 (unstable) 58.77 COX5A -0.295 0.5891 150 16762.1 6.3 21 20 18575 1.108 46.17 (unstable) 91.73 COX5B -0.298 0.546 129 13695.6 9.07 12 16 14230 1.039 43.06 (unstable) 78.06 COX6A1 -0.384 0.5852 109 12154.8 9.3 9 11 15470 1.273 38.23 (stable) 72.39 COX6A2 -0.442 0.6018 97 10815.4 10.91 3 11 16960 1.568 30.39 (stable) 73.51 COX6B1 -0.923 0.5502 103 12035.4 6.81 12 12 28210 2.344 33.61 (stable) 40.78 COX6B2 -0.9 0.5551 88 10528.9 9.21 8 13 24200 2.298 35.59 (stable) 52.05 COX6C -0.271 0.6421 75 8781.4 10.38 7 16 5960 0.679 41.77 (unstable) 82 COX7A1 -0.23 0.5342 79 9117.5 10.12 5 11 11460 1.257 34.25 (stable) 92.53 COX7A2 -0.025 0.4677 115 12843.9 9.23 10 14 17085 1.33 63.34 (unstable) 92.43 COX7A2L -0.157 0.4638 114 12614.6 9.43 7 13 18910 1.499 48.93 (unstable) 75.35 COX7B -0.401 0.6284 80 9160.5 10.28 4 10 19480 2.127 31.65 (stable) 75.5 COX7B2 -0.119 0.6308 81 9077.4 9.74 4 8 17990 1.982 37 (stable) 79.51 COX7C -0.078 0.6004 63 7245.5 10.29 3 9 8480 1.17 74.45 (unstable) 83.49 COX8A 0.349 0.5335 69 7579.1 10.26 4 8 6990 0.922 62.48 (unstable) 118.7 COX8C -0.094 0.4135 72 8128.6 12.08 1 12 2980 0.367 76.93 (unstable) 88.19 CYC1 -0.138 0.5775 325 35421.9 9.15 29 37 37735 1.065 37.61 (stable) 81.14 DGUOK -0.287 0.5818 277 32055.8 8.76 30 33 52035 1.623 59.11 (unstable) 88.05 MFF -0.559 0.5581 342 38464.5 9.01 42 45 30940 0.804 63.61 (unstable) 82.43 MFN1 -0.267 0.5485 741 84100.4 5.87 102 88 62755 0.746 41.93 (unstable) 92.23 MFN2 -0.325 0.5589 757 86402 6.52 97 92 72600 0.84 47.67 (unstable) 86.13 MTERF -0.225 0.6075 379 43641.6 9.46 41 56 36940 0.846 55.87 (unstable) 96.99
MTFR1 -0.577 0.4996 317 35324.6 9.4 37 46 21095 0.597 58.95 (unstable) 82.49 NDUFAF2 -1.163 0.4328 169 19856.3 8.94 26 29 43430 2.187 51.29 (unstable) 54.26 NDUFAF3 -0.184 0.5282 184 20350.2 8.48 16 18 22710 1.116 49.02 (unstable) 90.16 NDUFAF4 -0.533 0.6239 175 20266.4 8.85 26 29 11460 0.565 32.63 (stable) 90.23 NDUFB1 0.064 0.5054 105 11912 9.02 10 13 23615 1.982 40.2 (unstable) 97.43 NDUFB10 -1.031 0.3937 172 20776.6 8.72 26 30 30620 1.474 59.38 (unstable) 59.59 NDUFB11 -0.418 0.3673 153 17316.6 5.13 23 19 29450 1.701 52.47 (unstable) 76.54 NDUFB2 -0.47 0.4231 105 12058.4 5.44 14 10 30480 2.528 68.89 (unstable) 60.38 NDUFB3 -0.718 0.5225 98 11401.9 9.1 12 15 27960 2.452 19.73 (stable) 55.82 NDUFB4 -0.63 0.6186 129 15208.6 9.85 13 22 18910 1.243 55.66 (unstable) 84.81 NDUFB5 -0.183 0.4184 189 21750.2 9.62 21 28 31400 1.444 56.04 (unstable) 92.91 NDUFB6 -0.697 0.4086 128 15489.1 9.63 15 22 30940 1.998 66.98 (unstable) 74.45 NDUFB7 -0.996 0.5606 137 16401.9 9.1 23 28 13200 0.805 50.96 (unstable) 62.7 NDUFB8 -0.508 0.6126 172 20038.9 7.05 17 17 55015 2.745 42.71 (unstable) 56.69 NDUFB9 -1.077 0.4564 179 21830.9 8.57 28 31 62130 2.846 61.65 (unstable) 54.02 NDUFC1 -0.266 0.3045 76 8734.2 10.2 6 12 15470 1.771 71.92 (unstable) 98.82 NDUFC2 -0.396 0.6651 119 14187.5 9.04 16 19 13410 0.945 57.58 (unstable) 86.13 NDUFS1 -0.108 0.6227 727 79467.5 5.89 88 81 63465 0.799 42.85 (unstable) 92.02 NDUFS2 -0.266 0.6393 463 52545.6 7.21 55 55 72685 1.383 39.74 (stable) 85.08 NDUFS3 -0.292 0.5365 264 30241.5 6.98 35 35 41035 1.357 37.57 (stable) 87.5 NDUFS4 -0.643 0.518 175 20107.9 10.3 18 30 41480 2.063 50.27 (unstable) 69.6 NDUFS5 -0.914 0.4207 106 12517.5 9.27 15 21 17210 1.375 75.14 (unstable) 62.64 NDUFS6 -0.394 0.4665 124 13711.6 8.58 14 17 6335 0.462 30.91 (stable) 72.34 NDUFS7 -0.133 0.5406 206 22202.7 9.91 14 25 24660 1.111 62.3 (unstable) 75.29 NDUFS8 -0.392 0.4836 210 23705 6 28 26 26400 1.114 43.09 (unstable) 72.19 NDUFV1 -0.271 0.6351 464 50817 8.51 54 59 70650 1.39 39.73 (stable) 79.27 NDUFV2 -0.267 0.5569 249 27391.5 8.22 26 28 23170 0.846 44.28 (unstable) 81.89 NDUFV3 -0.912 0.2278 473 50984 9.18 61 69 5960 0.117 60.23 (unstable) 59.43 NT5M -0.126 0.5758 239 25903.6 8.1 26 28 35450 1.369 49.01 (unstable) 73.14 OPA1 -0.599 0.4273 997 115884.4 7.87 150 152 136875 1.181 45.82 (unstable) 86.24 OPA3 -0.201 0.562 179 19996.2 9.07 19 23 22585 1.129 46.42 (unstable) 93.35 PEO1 -0.398 0.4947 684 77154.2 9.13 79 91 87360 1.132 47.58 (unstable) 83.55 PINK1 -0.018 0.4922 581 62769 9.43 46 66 69870 1.113 48.3 (unstable) 95.46 POLG -0.49 0.5033 1239 139562 6.46 148 140 253920 1.819 51.96 (unstable) 77.81 POLG2 -0.352 0.5203 485 54911 8.64 55 61 72015 1.311 41.49 (unstable) 88.99 POLRMT -0.332 0.4951 1230 138620.3 9.19 125 157 145115 1.047 50.18 (unstable) 87.68
SDHA -0.27 0.6445 664 72691.5 7.06 74 73 71375 0.982 37.04 (stable) 79.34 SDHB -0.408 0.5404 280 31629.7 9.03 30 42 43735 1.383 60.13 (unstable) 76.39 SDHC 0.447 0.5998 169 18610.2 9.74 6 14 28210 1.516 47.79 (unstable) 110.83 SDHD 0.495 0.6485 159 17043 8.92 7 11 35200 2.065 33.2 (stable) 114.21 SSBP1 -0.561 0.5452 148 17259.6 9.59 18 23 19940 1.155 47.44 (unstable) 87.43 TFAM -0.909 0.4865 246 29096.6 9.74 33 52 48150 1.655 61.03 (unstable) 67.44 TK2 -0.477 0.5609 265 31004.7 8.71 34 38 56295 1.816 49.74 (unstable) 84.19 UCP1 0.206 0.6172 307 33004.5 9.26 20 30 23420 0.71 37.97 (stable) 95.57 UCP2 0.067 0.6265 309 33229.3 9.74 19 34 27765 0.836 41.95 (unstable) 82.46 UCP3 0.075 0.6209 312 34215.8 9.31 22 33 29380 0.859 39.31 (stable) 84.97 UQCRB -1.05 0.6139 111 13530.4 8.73 21 23 32430 2.397 35.97 (stable) 74.77 UQCRC1 -0.141 0.6082 480 52645.8 5.94 54 46 57590 1.094 45.67 (unstable) 87.04 UQCRC2 -0.071 0.5954 453 48443 8.74 37 41 26485 0.547 36.05 (stable) 87.73 UQCRFS1 -0.078 0.5911 274 29667.9 8.55 28 31 23170 0.781 47.23 (unstable) 90 UQCRH -1.056 0.4756 91 10738.7 4.39 29 11 250 0.023 80.06 (unstable) 66.37 UQCRQ -0.556 0.6056 82 9906.3 10.07 8 14 12950 1.307 49.38 (unstable) 66.46 UQCR10 -0.092 0.5787 63 7308.4 9.45 6 9 9970 1.364 41.82 (unstable) 88.41 UQCR11 -0.071 0.604 56 6569.6 9.87 4 8 31970 4.866 -14.17 (stable) 92.14 Table S6List of individuals from 1000 Genomes dataset bearing non-synonymous mutations in the 104 nDNA genes, when using a conservative classification (putative pathogenic according to the major voting system of the three pathogenicity scores, in HW equilibrium, and a global frequency higher than 0.5%). Individual Population Subpopulation Hits Genes rs MutPreds NA12889 EUR CEU 2 POLG-NDUFS2 rs113994095-rs145577083 0.751-0.57 NA20503 EUR TSI 2 SDHA-MFN1 rs201826964-rs143476739 0.891-0.485 NA20828 EUR TSI 2 NDUFV2-POLG rs201708711-rs147827654 0.835-0.538 HG00097 EUR GBR 1 NDUFS4 rs184765529 0.777 HG00101 EUR GBR 1 UCP1 rs150067245 0.912 HG00114 EUR GBR 1 UCP3 rs201405748 0.737 HG00117 EUR GBR 1 UCP1 rs150067245 0.912 HG00119 EUR GBR 1 UCP3 rs138705669 0.723 HG00124 EUR GBR 1 UCP3 rs138705669 0.723 HG00126 EUR GBR 1 UQCRC1 rs145869559 0.917
HG00129 EUR GBR 1 POLG rs121918054 0.807 HG00141 EUR GBR 1 NDUFV3 rs141922962 0.208 HG00146 EUR GBR 1 NDUFV3 rs141922962 0.208 HG00156 EUR GBR 1 COX5A rs150174803 0.831 HG00173 EUR FIN 1 POLG rs61752784 0.938 HG00176 EUR FIN 1 COX18 rs181365781 0.744 HG00177 EUR FIN 1 POLG rs145289229 0.555 HG00182 EUR FIN 1 COX18 rs138323566 0.706 HG00187 EUR FIN 1 UCP1 rs150067245 0.912 HG00188 EUR FIN 1 OPA3 rs186796646 0.889 HG00249 EUR GBR 1 MFN2 rs119103267 0.836 HG00250 EUR GBR 1 DGUOK rs144181978 0.809 HG00252 EUR GBR 1 POLG rs142347031 0.975 HG00258 EUR GBR 1 NDUFB7 rs200292442 0.614 HG00259 EUR GBR 1 POLG2 rs200118292 0.597 HG00264 EUR GBR 1 POLG rs142347031 0.975 HG00265 EUR GBR 1 COX10 rs199881731 0.350 HG00271 EUR FIN 1 POLG rs61752784 0.938 HG00275 EUR FIN 1 UCP2 rs148253207 0.751 HG00326 EUR FIN 1 UCP2 rs148253207 0.751 HG00331 EUR FIN 1 POLG rs145289229 0.555 HG00349 EUR FIN 1 ATP5B rs200610844 0.709 HG00375 EUR FIN 1 POLG rs61752784 0.938 HG00378 EUR FIN 1 UCP2 rs148253207 0.751 HG00384 EUR FIN 1 UCP2 rs148253207 0.751 HG01334 EUR GBR 1 POLRMT rs200607630 0.885 HG01617 EUR IBS 1 NDUFV1 rs201382784 0.968 HG01620 EUR IBS 1 DGUOK rs184770596 0.848 NA11994 EUR CEU 1 UCP2 rs45490393 0.87 NA12044 EUR CEU 1 CYC1 rs199884423 0.852 NA12347 EUR CEU 1 AK4 rs185251178 0.722 NA12718 EUR CEU 1 NDUFS1 rs151279101 0.873 NA12751 EUR CEU 1 MTFR1 rs201556776 0.648 NA12842 EUR CEU 1 NDUFV3 rs141922962 0.208 NA12873 EUR CEU 1 COX4I2 rs201685557 0.490 NA12874 EUR CEU 1 NDUFV3 rs141922962 0.208
NA20506 EUR TSI 1 COX10 rs200472593 0.683 NA20508 EUR TSI 1 POLG2 rs200118378 0.866 NA20519 EUR TSI 1 ATP5B rs200966693 0.668 NA20530 EUR TSI 1 POLG rs61752784 0.938 NA20531 EUR TSI 1 NDUFV3 rs141922962 0.208 NA20539 EUR TSI 1 COX16 rs139410596 0.543 NA20581 EUR TSI 1 NDUFB4 rs142688627 0.773 NA20752 EUR TSI 1 PINK1 rs200949139 0.835 NA20754 EUR TSI 1 POLRMT rs201811276 0.814 NA20758 EUR TSI 1 POLG rs61752784 0.938 NA20759 EUR TSI 1 COX6A1 rs140243339 0.724 NA20775 EUR TSI 1 NDUFV1 rs201382784 0.968 NA20799 EUR TSI 1 MFN1 rs143476739 0.485 NA20811 EUR TSI 1 UQCRB rs139283183 0.645 NA20814 EUR TSI 1 MFF rs200132653 0.738 HG00701 ASN CHS 3 NDUFS7-ATP5L-MTERF rs201420030-rs200472961-rs201335490 0.717-0.873-0.622 HG00443 ASN CHS 2 SDHA-NT5M rs200103530-rs201242235 0.766-0.94 HG00448 ASN CHS 2 POLG-NDUFS8 rs201477273-rs201484242 0.846-0.595 HG00475 ASN CHS 2 NDUFC2-COX15 rs183610034-rs199761049 0.799-0.942 HG00530 ASN CHS 2 COX18-NDUFV1 rs141592190-rs180950242 0.741-0.645 HG00565 ASN CHS 2 NDUFB8-UCP3 rs200405716-rs17848372 0.718-0.552 NA18557 ASN CHB 2 NDUFB4-NDUFS1 rs150031407-rs202214721 0.575-0.634 NA18617 ASN CHB 2 COX18-UQCRC2 rs141592190-rs181040575 0.741-0.809 NA18626 ASN CHB 2 POLG-UCP3 rs201477273-rs17848372 0.846-0.552 NA18636 ASN CHB 2 NDUFAF4-NDUFC1 rs200279216-rs201035643 0.783-0.674 NA18964 ASN JPT 2 ATP5G2-UQCRC2 rs201675029-rs139312246 0.761-0.569 HG00421 ASN CHS 1 MFN1 rs186960036 0.875 HG00422 ASN CHS 1 POLG rs2307440 0.792 HG00436 ASN CHS 1 NDUFB7 rs201675767 0.742 HG00445 ASN CHS 1 UQCRC2 rs139500759 0.846 HG00449 ASN CHS 1 COX15 rs2231682 0.894 HG00542 ASN CHS 1 NDUFC2 rs183610034 0.799 HG00557 ASN CHS 1 COX18 rs141592190 0.741 HG00559 ASN CHS 1 NT5M rs199941205 0.724 HG00581 ASN CHS 1 OPA1 rs190223702 0.657 HG00583 ASN CHS 1 COX18 rs141592190 0.741
NDUFS3 ARG199TRP R199W C595T 0.970 NO Heterozygous; homozygous 1 boy from Reunion Island; 1 Leigh syndrome due to mitochondrial complex I deficiency NDUFS3 THR145ILE T145I C434T 0.779 NO Heterozygous 1 boy from Reunion Island Leigh syndrome due to mitochondrial complex I deficiency NDUFS6 CYS115TYR C115Y G344A 0.950 NO Homozygous 2 unrelated infants, both of Jewish Caucasus descent Mitochondrial complex i deficiency with fatal infantile lactic acidosis NDUFS7 VAL122MET V122M 0.813 NO 2 male sibs Leigh syndrome due to mitochondrial complex I deficiency; died at 3.5 years and 5 years NDUFS7 ARG145HIS R145H G434A 0.733 NO Homozygous 1 patient born to consanguineous Tunisian parents Leigh syndrome due to mitochondrial complex I deficiency NDUFS8 PRO85LEU P85L C254T 0.926 NO Heterozygous 1 patient Leigh syndrome due to mitochondrial complex I deficiency NDUFS8 ARG138HIS R138H G413A 0.758 NO Heterozygous 1 patient Leigh syndrome due to mitochondrial complex I deficiency NDUFS8 PRO79LEU P79L C236T 0.750 NO Heterozygous 1 patient Leigh syndrome due to mitochondrial complex I deficiency; death at the age of 11 weeks NDUFS8 ALA159ASP A159D C476A 0.739 NO Heterozygous 1 patient Mitochondrial complex I deficiency NDUFS8 ARG102HIS R102H G305A 0.729 NO Heterozygous 1 patient Leigh syndrome due to mitochondrial complex I deficiency; death at the age of 11 weeks NDUFS8 ARG77TRP R77W C229T 0.570 NO Heterozygous 1 patient Mitochondrial complex I deficiency NDUFS8 GLU63GLN E63Q G187C 0.507 NO Homozygous 1 patient Leigh syndrome due to mitochondrial complex I deficiency NDUFV1 THR423MET T423M C1268T 0.877 NO Heterozygous 2 sibs Mitochondrial complex I deficiency NDUFV1 GLU214LYS E214K G640A 0.849 NO Heterozygous 1 patient Mitochondrial complex I deficiency NDUFV1 ALA341VAL A341V C1022T 0.815 NO Homozygous 1 patient Mitochondrial complex I deficiency OPA1 GLY337GLU G337E G899A 0.926 NO affected members of a family Optic atrophy 1 OPA1 ILE419MET I419M A1146G 0.920 YES 1 American heterozygous (PUR) Heterozygous 1; 2 sibs Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy, included OPA1 GLY476VAL G476V G1316T 0.866 NO Heterozygous 1 Italian and daughter Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OPA1 ILE469VAL I469V A1294G 0.858 NO Heterozygous 2 sibs Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OPA1 SER582ARG S582R C1635G 0.834 NO Heterozygous 7 affected members of a 3generation family; 3 affected Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
members of an Austrian family OPA1 ARG327GLN R327Q G869A 0.790 NO 1 family from Cuba Optic atrophy 1 OPA1 ARG482HIS R482H G1334A 0.734 NO 1 Japanese; Utah; Belgian; 6 other family, one Spanish Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OPA1 TYR619CYS Y619C A1741G 0.602 NO Heterozygous 1 patient Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OPA1 VAL947ASP V947D T2729A 0.597 NO 1 Italian and 6 other members of the family were affected Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OPA3 GLY93SER G93S G277A 0.830 NO Heterozygous affected members of a French family Optic atrophy and cataract, autosomal dominant OPA3 GLN105GLU Q105E C313G 0.651 NO Heterozygous affected members of a family Optic atrophy and cataract, autosomal dominant PEO1 LEU381PRO L381P T1442C 0.925 NO affected members of an Italian family Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3 PEO1 ALA475PRO A475P G1423C 0.895 NO Heterozygous affected members of a Pakistani family Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3 PEO1 ARG303GLN R303Q G908A 0.864 NO Heterozygous 1 patient Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3 PEO1 TRP474CYS W474C 0.860 NO affected members of a pedigree Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3 PEO1 ARG374TRP R374W C1120T 0.854 NO Heterozygous 5 patients from 2 unrelated French families Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3 PEO1 TRP315LEU W315L 0.825 NO affected members of a pedigree Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3 PEO1 ALA318THR A318T G952A 0.815 NO Heterozygous 2 Finnish sibs Mitochondrial dna depletion syndrome 7 (hepatocerebral type) PEO1 ALA359THR A359T 0.786 NO Homozygous affected members of a large, consanguineous Italian family Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3 PEO1 THR457ILE T457I C1370T 0.786 NO Homozygous 2 Algerian sibs and a first cousin Mitochondrial dna depletion syndrome 7 (hepatocerebral type); died by age 3 years PEO1 LYS319GLU K319E A955G 0.769 NO Heterozygous 2 sibs Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3 PEO1 ARG354PRO R354P G1061C 0.766 NO affected members of an Italian family Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3
PEO1 TYR508CYS Y508C A1708G 0.766 NO Homozygous; heterozygous Finnish patients Mitochondrial dna depletion syndrome 7 (hepatocerebral type) PEO1 ARG334GLN R334Q G1031A 0.741 NO Heterozygous sporadic case Progressive external ophthalmoplegia with mitochondrial dna deletions, digenic PEO1 SER369TYR S369Y C1106A 0.698 NO Heterozygous 2 families from Tasmania Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3 PINK1 LEU347PRO L347P T1040C 0.938 NO Homozygous 3 affected members of a Filipino family; another Filipino and 2 affected sibs Parkinson disease 6, autosomal recessive early-onset PINK1 HIS271GLN H271Q C813A 0.921 NO Homozygous Japanese patient Parkinson disease 6, autosomal recessive early-onset PINK1 TYR431HIS Y431H 0.845 NO Heterozygous 1 sporadic patient Parkinson disease 6, late-onset, susceptibility to PINK1 ALA217ASP A217D C650A 0.840 NO Homozygous 5 affected members of a large consanguineous Sudanese family Parkinson disease 6, autosomal recessive early-onset PINK1 THR313MET T313M C1032T 0.821 NO Homozygous 2 affected members of a large consanguineous Saudi Arabian family; 2 additional members affected Parkinson disease 6, autosomal recessive early-onset PINK1 ARG279HIS R279H G836A 0.784 NO Heterozygous 1 Italian; 1 Korean Parkinson disease 6, early-onset PINK1 GLY309ASP G309D G11185A 0.749 NO Homozygous consanguineous Spanish family Parkinson disease 6, autosomal recessive early-onset PINK1 PRO399LEU P399L C1196T 0.731 NO Heterozygous 2 Chinese sibs Parkinson disease, autosomal recessive early-onset, digenic, pink1/dj1 POLG ARG853TRP R853W C2839T 0.989 NO Heterozygous 2 Italian sisters Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive POLG GLY848SER G848S 0.973 NO Heterozygous 2 sibs Alpers syndrome POLG TYR955CYS Y955C A2864G 0.971 NO ?; heterozygous affected members of a 3-generation Belgian pedigree; 4 Italian and 1 Greek; 4 adPEO families, including the Swedish family Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1 POLG ALA957SER A957S G2869T 0.964 NO Heterozygous; homozygous 2 families from a small village in northwest Sicily Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1 POLG PRO1073LEU P1073L C3218T 0.960 NO Heterozygous 4 patients Mitochondrial dna depletion syndrome 4a (alpers type) POLG HIS932TYR H932Y C2794T 0.957 NO Heterozygous 2 Italian sibs Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG GLY1051ARG G1051R G3151C 0.922 NO Heterozygous 2 Italian sibs Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis POLG LEU304ARG L304R T911G 0.874 NO Heterozygous 3 affected sibs Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive POLG ARG227TRP R227W C697T 0.859 NO Heterozygous 1 patient Mitochondrial dna depletion syndrome 4b (mngie type) POLG TRP748SER W748S G2243C 0.838 NO Heterozygous; homozygous British patient; 3 Finnish sibs; another Finnish; 4 children Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive POLG GLY737ARG G737R G2491C 0.807 YES 1 European heterozygous (GBR) Heterozygous 2 Italian sisters Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive POLG ASN864SER N864S A2591T 0.788 NO Heterozygous 2 sisters Mitochondrial dna depletion syndrome 4b (mngie type) POLG ALA467THR A467T G1399A 0.751 YES 1 European heterozygous (CEU) Heterozygous; homozygous 3 affected sibs; 1 patient; 3 sibs; 1 Belgian Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive POLG GLN497HIS Q497H G1491C 0.713 NO Heterozygous; homozygous 2 families Spinocerebellar ataxia with epilepsy POLG TYR831CYS Y831C A2492G 0.680 YES 4 European heterozygous (3 FIN, TSI) Heterozygous 2 sibs Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1 POLG ARG627TRP R627W 0.676 NO Heterozygous sporadic case Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis POLG PRO587LEU P587L C1760T 0.667 YES 2 European heterozygous (FIN, GBR) Heterozygous 2 sisters; 3 families; 2 sibs, another patient Mitochondrial dna depletion syndrome 4b (mngie type) POLG ARG3PRO R3P G8C 0.658 NO Heterozygous 2 affected individuals in another family Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive POLG THR251ILE T251I 0.602 YES 2 European heterozygous (FIN, GBR) Heterozygous 1 patient Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive POLG E1143G A3428G 0.533 YES 1 African heterozygous (ASW); 3 American heterozygous (CLM, 2 PUR); 2 European homozygous (GBR, TSI); 29 European heterozygous (2 CEU, 4 FIN, 13 GBR, IBS, 9 TSI) Heterozygous 5 patients Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis POLG SER511ASN S511N G1532A 0.480 NO Heterozygous 6 affected members of a large family Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1 POLG2 GLY451GLU G451E G1352A 0.950 NO Heterozygous 1 patient Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 4
POLG2 PRO205ARG P205R C614G 0.823 NO Heterozygous 1 patient Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 4 POLG2 ARG369GLY R369G A1105G 0.783 NO Heterozygous 1 patient Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 4 SDHA MET1LEU M1L A-to-C 0.977 NO Heterozygous 1 patient Leigh syndrome due to mitochondrial complex II deficiency SDHA ARG589TRP R589W C1765T 0.916 NO Heterozygous germline 1 patient Paragangliomas 5 SDHA ARG554TRP R554W C1684T 0.903 NO Heterozygous 2 sibs Leigh syndrome due to mitochondrial complex II deficiency SDHA ALA524VAL A524V C-to-T 0.901 NO Heterozygous 1 patient Leigh syndrome due to mitochondrial complex II deficiency SDHA GLY555GLU G555E G1664A 0.851 NO Homozygous 1; 1 Palestinian; 15 Bedouin patients from a single tribe with neonatal dilated cardiomyopathy, including 13 patients from 2 consanguineous families and 2 sporadic patients Mitochondrial complex II deficiency, leigh syndrome, included, cardiomyopathy, dilated, 1gg, included SDHA SER509LEU S509L C1526T 0.468 NO Heterozygous 1 patient Mitochondrial complex II deficiency SDHA THR508ILE T508I C1523T 0.356 YES 7 African heterozygous (ASW, 5 LWK, YRI) Heterozygous 1 patient Mitochondrial complex II deficiency SDHB PRO197ARG P197R C724G 0.949 NO Heterozygous 3 individuals from a family Paragangliomas 4 SDHB ARG46GLY R46G C270G 0.925 NO Heterozygous 2 unrelated patients Pheochromocytoma SDHB ARG242HIS R242H G725A 0.922 NO Heterozygous man and son; 1 patient; 1 patient Paragangliomas 4; sporadic pheochromocytoma; sporadic gastrointestinal stromal tumor SDHB CYS101TYR C101Y G436A 0.920 NO Heterozygous 2 unrelated patients Pheochromocytoma SDHB SER100PHE S100F C299T 0.872 NO Heterozygous 1 patient Pheochromocytoma SDHB HIS132PRO H132P A-to-C 0.862 NO Heterozygous 2 brothers and their mother Paragangliomas 4 SDHB VAL140PHE V140F G418T 0.724 NO Heterozygous 2 sibs Paragangliomas 4 SDHB ALA3GLY A3G C-to-G 0.675 YES 18 African heterozygous (4 ASW, 2 LWK, 12 YRI); 1 European heterozygous (TSI) 1 patient Cowden disease 2 SDHB SER163PRO S163P 0.196 YES 1 African heterozygous (ASW); 2 American heterozygous (CLM, MXL); 14 European heterozygous (2 CEU, 4 FIN, 3 GBR, IBS, 4 TSI) 2 patients Cowden disease 2
SDHD HIS102LEU H102L A-to-T 0.985 NO affected members of a family Paragangliomas 1 SDHD TYR114CYS Y114C 0.984 NO affected members of a German family Paragangliomas 1 SDHD MET1VAL M1V A1G 0.977 NO 3 unrelated patients Paraganglioma, carotid body, somatic SDHD MET1ILE M1I G-to-C 0.972 NO father and his 2 sons Paragangliomas 1 SDHD ASP92TYR D92Y G-to-T 0.960 NO Dutch founder mutation; 1 patient Paragangliomas 1; sporadic pheochromocytoma SDHD PRO81LEU P81L C-to-T 0.931 NO Heterozygous 5 families; 3 families; 1 individual; 4 individuals from a family; 14 families Paragangliomas 1; pheochromocytoma; sensorineural deafness in association with paragangliomas SDHD LEU139PRO L139P 0.920 NO 7 Dutch families Paragangliomas 1 SDHD HIS145ASN H145N C-to-A 0.760 NO 1 patient Cowden disease 3 SDHD HIS50ARG H50R A149G 0.260 YES 18 American heterozygous (2 CLM, 10 MXL, 6 PUR); 22 European heterozygous (10 CEU, 4 FIN, 2 IBS, 6 TSI) 1 patient; 1 patient; 2 unrelated patient Carcinoid tumors, intestinal; pheochromocytoma; merkel cell carcinoma, somatic; cowden disease 3 SDHD GLY12SER G12S 0.158 YES 2 African heterozygous (ASW); 2 American homozygous (CLM); 8 American heterozygous (2 CLM, 6 PUR); 12 European heterozygous (2 CEU, 10 TSI) several patients Cowden disease 3; paragangliomas 1; carcinoid tumors, intestinal; pheochromocytoma TK2 ILE212ASN I212N T542A 0.848 NO 3 Muslim-Arab infants Mitochondrial dna depletion syndrome 2 (myopathic type) TK2 HIS121ASN H121N 0.687 YES 1 American heterozygous (MXL) Homozygous Ashkenazi Jewish patient Mitochondrial dna depletion syndrome 2 (myopathic type) TK2 THR108MET T108M 0.644 NO Heterozygous; homozygous 2 sibs; 3 sibs; 2 unrelated patients Mitochondrial dna depletion syndrome 2 (myopathic type) TK2 ILE53MET I53M 0.580 NO Homozygous brother and sister from Hispanic family Mitochondrial dna depletion syndrome 2 (myopathic type) TK2 ARG90CYS R90C C268T 0.556 NO Heterozygous 1 patient Mitochondrial dna depletion syndrome 2 (myopathic type) UCP3 ARG70TRP R70W 0.868 NO 15-year-old male of Chinese descent Obesity, severe, and type II diabetes UCP3 VAL102ILE V102I 0.742 YES 1 American heterozygous (MXL) Heterozygous; homozygous 1 Gullah-speaking African American woman and 4 children Obesity, severe, and type II diabetes UQCRC2 ARG183TRP R183W C547T 0.638 NO Homozygous 3 affected individuals from a large consanguineous Mexican kindred Mitochondrial complex III deficiency, nuclear type 5
UQCRQ SER45PHE S45F C208T 0.760 NO Homozygous affected members of a large Israeli Bedouin kindred Mitochondrial complex III deficiency, nuclear type 4 Table S8Mutations in the 104 nDNA genes reported in COSMIC dataset. Gene Position Mutation (CDS) Mutation (Amino Acid) Mutation (Amino Acid) Our Transcript Mutation ID (COSM) Count Confirmed somatic MutPred Presence in 1000 genomes Population AK2 108 c.323C>A p.A108E COSM464459 1 YES 0.909 No AK2 112 c.334G>A p.D112N COSM1182333 2 YES 0.577 No AK2 145 c.434A>T p.H145L COSM534886 1 YES 0.612 No AK2 150 c.448C>A p.R150S COSM534888 1 YES 0.553 No AK2 170 c.508G>A p.E170K COSM534890 1 YES 0.583 No AK3 71 c.213G>C p.M71I M1I COSM69597 1 YES 0.589 No AK3 76 c.226C>T p.L76F L5F COSM304405 1 YES 0.348 No AK3 152 c.456C>G p.D152E COSM293356 1 YES 0.857 No AK3 179 c.535C>G p.Q179E COSM69596 1 YES 0.533 No AK3 211 c.633C>A p.F211L COSM324684 1 YES 0.444 No AK4 76 c.226G>A p.E76K COSM83910 1 YES 0.659 No AK4 150 c.449A>G p.D150G COSM464868 1 YES 0.781 No AK4 197 c.589A>G p.T197A COSM1235262 1 YES 0.281 No AK4 209 c.626T>C p.L209P COSM25652 1 YES 0.682 No ATP5A1 78 c.233G>A p.G78D COSM279065 1 YES 0.578 No ATP5A1 83 c.248G>A p.R83H COSM563874 1 YES 0.619 No ATP5A1 85 c.254A>G p.H85R COSM265290 1 YES 0.534 No ATP5A1 106 c.317C>A p.S106Y COSM1184103 2 YES 0.515 No ATP5A1 120 c.359G>A p.G120E COSM188279 1 YES 0.660 No ATP5A1 144 c.430G>A p.E144K COSM417836 1 YES 0.299 No ATP5A1 182 c.545G>A p.R182Q COSM259569 1 YES 0.813 No ATP5A1 212 c.635G>C p.G212A COSM563875 1 YES 0.859 No ATP5A1 224 c.670G>T p.D224Y COSM473854 1 YES 0.870 No ATP5A1 306 c.917A>G p.H306R COSM171586 1 YES 0.752 No ATP5A1 382 c.1144C>G p.P382A COSM709481 1 YES 0.801 No ATP5A1 441 c.1321C>A p.R441S COSM709482 1 YES 0.861 No ATP5A1 454 c.1360G>A p.D454N COSM1136052 1 YES 0.643 No
ATP5A1 519 c.1556A>T p.H519L COSM709483 1 YES 0.720 No ATP5B 30 c.88C>G p.Q30E COSM416140 1 YES 0.210 No ATP5B 41 c.121C>T p.H41Y COSM135597 1 YES 0.266 No ATP5B 80 c.239C>A p.P80Q COSM694428 1 YES 0.791 No ATP5B 151 c.452C>A p.P151H COSM212211 1 YES 0.539 No ATP5B 155 c.464G>C p.R155T COSM941795 1 YES 0.277 No ATP5B 160 c.479C>A p.T160N COSM941794 1 YES 0.248 No ATP5B 252 c.754G>A p.E252K COSM549343 1 YES 0.540 No ATP5B 284 c.850C>G p.L284V COSM1188529 1 YES 0.743 No ATP5B 365 c.1094A>G p.D365G COSM468685 1 YES 0.789 No ATP5B 403 c.1208C>A p.S403Y COSM694429 1 YES 0.850 No ATP5B 419 c.1255G>A p.D419N COSM192044 1 YES 0.343 No ATP5B 459 c.1376A>C p.K459T COSM292368 1 YES 0.746 No ATP5C1 1 c.3G>T p.M1I COSM1171725 1 YES 0.993 No ATP5C1 9 c.25G>T p.G9W COSM539727 1 YES 0.562 No ATP5C1 12 c.34G>C p.A12P COSM685287 1 YES 0.512 No ATP5C1 26 c.76G>A p.A26T COSM175286 1 YES 0.762 No ATP5C1 58 c.173G>T p.R58L COSM465992 1 YES 0.716 No ATP5C1 81 c.241G>A p.D81N COSM159280 1 YES 0.416 No ATP5C1 95 c.284G>T p.G95V COSM268730 1 YES 0.515 No ATP5C1 182 c.544G>A p.E182K COSM254558 1 YES 0.661 No ATP5C1 198 c.592A>T p.T198S COSM539724 1 YES 0.529 No ATP5C1 222 c.664G>T p.D222Y COSM685285 1 YES 0.567 No ATP5C1 273 c.819G>C p.L273F COSM685284 1 YES 0.867 No ATP5D 139 c.416C>T p.A139V COSM178124 1 YES 0.390 No ATP5EP2 46 c.136G>T p.V46L COSM86282 1 YES 0.517 No ATP5F1 20 c.59C>T p.A20V COSM1127480 1 YES 0.353 No ATP5F1 111 c.332A>G p.Y111C COSM527394 1 YES 0.579 No ATP5F1 161 c.482A>G p.Q161R COSM423449 1 YES 0.471 No ATP5F1 206 c.618G>A p.M206I COSM458710 1 YES 0.510 No ATP5F1 208 c.622C>T p.R208C COSM201242 1 YES 0.816 No ATP5G1 2 c.5A>T p.Q2L COSM328764 1 YES 0.348 No ATP5G2 85 c.253G>T p.D85Y COSM468597 1 YES 0.458 No ATP5G2 132 c.394G>A p.A132T COSM69764 1 YES 0.533 No ATP5G2 140 c.418G>C p.E140Q COSM694066 1 YES 0.742 No ATP5G2 157 c.469A>G p.M157V COSM694067 1 YES 0.453 No
ATP5G3 41 c.121G>C p.G41R COSM77318 1 YES 0.202 No ATP5G3 74 c.221A>C p.K74T COSM279067 1 YES 0.526 No ATP5G3 97 c.290G>T p.G97V COSM717675 1 YES 0.786 No ATP5G3 135 c.403G>C p.A135P COSM571286 1 YES 0.761 No ATP5H 135 c.403G>A p.D135N COSM140802 1 YES 0.901 No ATP5I 63 c.187G>A p.E63K COSM138420 1 YES 0.501 No ATP5J 1 c.2T>C p.M1T COSM248869 1 YES 0.921 No ATP5J 31 c.91G>A p.A31T COSM1029617 1 YES 0.789 No ATP5J2 29 c.87G>C p.W29C COSM69765 1 YES 0.798 No ATP5J2 92 c.275A>C p.K92T COSM199229 1 YES 0.529 No ATP5L 1 c.2T>C p.M1T COSM686171 1 YES 0.692 No ATP5L 23 c.68C>T p.S23L COSM259571 1 YES 0.527 No ATP5L 34 c.100G>A p.A34T COSM159281 1 YES 0.658 No ATP5L 44 c.131C>T p.A44V COSM923566 1 YES 0.644 No ATP5L 84 c.252G>T p.L84F COSM541014 1 YES 0.415 No ATP5L 85 c.253A>T p.M85L COSM170485 1 YES 0.635 No ATP5L2 29 c.85G>A p.A29T COSM479030 1 YES 0.402 No ATP5L2 76 c.226A>G p.N76D COSM1154031 1 YES 0.804 No ATP5O 64 c.190A>G p.R64G COSM73778 1 YES 0.597 No ATP5O 139 c.416T>C p.V139A COSM186094 1 YES 0.699 No ATP5O 156 c.467A>T p.E156V COSM419247 1 YES 0.589 No ATP5O 172 c.515A>C p.K172T COSM279068 1 YES 0.618 No ATP5S 33 c.98C>A p.P33Q COSM698448 1 YES 0.497 No ATP5S 34 c.102G>C p.W34C COSM212304 1 YES 0.483 No ATP5S 85 c.254G>T p.W85L COSM698447 1 YES 0.485 No ATP5S 91 c.273C>G p.H91Q COSM159282 1 YES 0.176 No ATP5S 106 c.316G>A p.D106N COSM329053 1 YES 0.464 No COX10 118 c.354G>C p.L118F COSM704963 2 YES 0.242 No COX10 142 c.425G>A p.R142Q COSM1202102 1 YES 0.477 No COX10 199 c.595G>T p.A199S COSM1202103 1 YES 0.728 No COX10 249 c.746C>T p.A249V COSM272527 1 YES 0.667 No COX10 259 c.776C>T p.T259I COSM975654 1 YES 0.679 No COX10 275 c.824C>T p.T275I COSM266298 1 YES 0.869 No COX10 436 c.1307G>T p.G436V COSM704960 1 YES 0.189 No COX11 6 c.16C>G p.R6G COSM1165723 1 YES 0.329 No COX11 6 c.17G>T p.R6L COSM70282 1 YES 0.304 No
COX11 10 c.28A>G p.R10G COSM190825 1 YES 0.431 No COX11 101 c.302C>A p.A101D COSM561681 1 YES 0.547 No COX11 207 c.619G>C p.E207Q COSM706793 1 YES 0.493 No COX11 258 c.772T>C p.S258P COSM473065 1 YES 0.870 No COX15 36 c.107G>A p.R36H COSM168044 1 YES 0.224 No COX15 44 c.131G>A p.S44N COSM131094 1 YES 0.241 No COX15 49 c.146T>C p.V49A COSM1202105 1 YES 0.188 No COX15 57 c.169A>G p.T57A COSM913783 1 YES 0.231 No COX15 67 c.200G>T p.R67L COSM536872 1 YES 0.574 No COX15 86 c.256C>A p.L86I COSM167910 2 YES 0.447 No COX15 115 c.343G>A p.E115K COSM70283 1 YES 0.479 No COX15 282 c.844G>A p.A282T COSM465166 1 YES 0.918 No COX15 310 c.928C>A p.P310T COSM1202104 1 YES 0.355 No COX15 345 c.1034G>T p.R345L COSM536873 1 YES 0.629 No COX16 16 c.47T>A p.L16H COSM698824 1 YES 0.657 No COX16 60 c.179A>C p.K60T COSM195030 1 YES 0.241 No COX16 85 c.254G>T p.R85M COSM1202106 1 YES 0.526 No COX17 8 c.23A>C p.N8T COSM295010 1 YES 0.197 No COX18 84 c.251G>A p.G84D COSM1202107 1 YES 0.705 No COX18 133 c.397C>T p.R133C COSM280089 1 YES 0.584 No COX18 148 c.443A>T p.Y148F COSM588170 1 YES 0.624 No COX18 150 c.450G>T p.K150N COSM260263 1 YES 0.486 No COX18 162 c.485G>A p.R162Q COSM196003 1 YES 0.766 No COX18 264 c.791C>T p.S264L COSM317176 1 YES 0.814 No COX4I1 39 c.117G>A p.M39I COSM23302 1 YES 0.247 No COX4I1 53 c.159G>C p.K53N COSM559445 1 YES 0.408 No COX4I1 93 c.279G>A p.M93I COSM139027 1 YES 0.815 No COX4I1 115 c.343G>A p.A115T COSM265687 1 YES 0.698 No COX4I1 115 c.344C>T p.A115V COSM197384 1 YES 0.636 No COX4I1 162 c.485A>T p.Y162F COSM704511 1 YES 0.906 No COX4I2 8 c.23G>A p.S8N COSM184859 1 YES 0.363 No COX4I2 45 c.133T>C p.Y45H COSM1179513 1 YES 0.443 No COX4I2 116 c.346G>A p.A116T COSM170860 1 YES 0.646 No COX4I2 146 c.437G>A p.R146H COSM184861 1 YES 0.675 No COX4I2 164 c.490T>A p.Y164N COSM328778 1 YES 0.799 No COX5A 130 c.389T>G p.L130R COSM248923 1 YES 0.892 No
NDUFS2 393 c.1177C>T p.P393S COSM530169 1 YES 0.317 No NDUFS2 455 c.1363G>A p.D455N COSM424374 1 YES 0.947 No NDUFS3 63 c.188A>G p.E63G COSM1135189 1 YES 0.340 No NDUFS3 88 c.263T>A p.I88N COSM189979 1 YES 0.672 No NDUFS3 141 c.421A>G p.I141V COSM542634 1 YES 0.566 No NDUFS3 142 c.424C>T p.R142C COSM189980 1 YES 0.631 No NDUFS3 151 c.452C>T p.T151M COSM1177712 1 YES 0.515 No NDUFS4 52 c.155T>C p.L52P COSM482874 1 YES 0.435 No NDUFS4 83 c.247G>T p.A83S COSM1068700 1 YES 0.741 No NDUFS4 141 c.422A>C p.N141T COSM482875 1 YES 0.573 No NDUFS4 165 c.494C>A p.S165Y COSM172461 1 YES 0.507 No NDUFS4 172 c.514G>T p.V172L COSM1132150 3 YES 0.484 No NDUFS5 16 c.47G>A p.R16Q COSM1216929 1 YES 0.380 No NDUFS5 23 c.67G>T p.G23C COSM464575 1 YES 0.289 No NDUFS5 62 c.184G>T p.D62Y COSM262345 1 YES 0.799 No NDUFS5 75 c.223C>T p.R75C COSM171773 1 YES 0.690 No NDUFS6 83 c.247C>T p.R83W COSM178268 1 YES 0.582 No NDUFS6 93 c.277G>T p.A93S COSM1066947 1 YES 0.490 No NDUFS6 97 c.290C>A p.P97Q COSM591595 1 YES 0.927 No NDUFS6 109 c.325A>G p.T109A COSM301194 1 YES 0.260 No NDUFS6 121 c.362A>G p.Q121R COSM737416 1 YES 0.338 No NDUFS8 11 c.32G>A p.R11Q COSM690326 1 YES 0.281 No NDUFS8 13 c.38T>A p.L13Q COSM467314 1 YES 0.382 No NDUFS8 57 c.170G>T p.R57L COSM544996 2 YES 0.464 No NDUFS8 104 c.311A>G p.Y104C COSM1216930 1 YES 0.535 No NDUFS8 171 c.513T>G p.F171L COSM931176 1 YES 0.496 No NDUFV1 151 c.451G>A p.A151T COSM429726 1 YES 0.874 No NDUFV1 152 c.454C>A p.R152S COSM544667 1 YES 0.530 No NDUFV1 224 c.671G>T p.R224L COSM1127663 1 YES 0.703 No NDUFV1 237 c.709G>T p.G237C COSM140661 1 YES 0.886 No NDUFV1 256 c.767G>A p.R256H COSM545005 1 YES 0.650 No NDUFV1 269 c.806G>A p.R269H COSM194563 1 YES 0.412 No NDUFV1 307 c.919G>A p.V307I COSM931138 1 YES 0.534 No NDUFV1 321 c.961G>A p.G321S COSM931139 1 YES 0.823 No NDUFV1 368 c.1102G>A p.A368T COSM267012 1 YES 0.412 No NDUFV1 369 c.1106G>A p.R369H COSM690337 1 YES 0.592 No
NDUFV1 449 c.1346G>A p.R449Q COSM1216931 1 YES 0.531 No NDUFV1 454 c.1361C>T p.A454V COSM690335 1 YES 0.366 No NDUFV2 120 c.359C>T p.T120I COSM710333 1 YES 0.700 No NDUFV2 131 c.391C>G p.H131D COSM438420 1 YES 0.791 No NDUFV2 134 c.401T>C p.V134A COSM710331 1 YES 0.826 No NDUFV2 214 c.640C>A p.P214T COSM710330 1 YES 0.346 No NDUFV3 105 c.313G>A p.V105M COSM725056 1 YES 0.118 No NDUFV3 120 c.358A>G p.T120A COSM71807 1 YES 0.201 No NDUFV3 337 c.1010C>T p.P337L COSM162861 1 YES 0.202 No NDUFV3 407 c.1219A>T p.M407L COSM1216933 1 YES 0.299 No NT5M 96 c.287G>T p.W96L COSM560001 1 YES 0.756 No NT5M 129 c.386G>T p.C129F COSM300617 1 YES 0.812 No NT5M 132 c.395C>G p.P132R COSM976105 1 YES 0.902 No OPA1 37 c.110C>T p.S37L COSM729922 1 YES 0.219 No OPA1 38 c.113G>A p.R38Q COSM276444 1 YES 0.430 No OPA1 71 c.211C>T p.R71C COSM1186478 1 YES 0.466 No OPA1 127 c.380C>T p.P127L COSM729921 1 YES 0.572 No OPA1 240 c.718C>G p.Q240E Q222E COSM729919 1 YES 0.158 No OPA1 254 c.762C>G p.S254R S236R COSM163086 1 YES 0.298 No OPA1 255 c.764C>T p.T255M T237M COSM1042645 1 YES 0.199 No OPA1 289 c.865G>A p.E289K E271K COSM420082 1 YES 0.351 No OPA1 404 c.1211A>T p.D404V D386V COSM583133 1 YES 0.483 No OPA1 482 c.1446G>C p.Q482H Q464H COSM729916 1 YES 0.408 No OPA1 513 c.1538A>G p.H513R H495R COSM209289 1 YES 0.429 No OPA1 613 c.1837G>C p.E613Q E595Q COSM420081 2 YES 0.254 No OPA1 663 c.1988T>C p.L663P L645P COSM479865 1 YES 0.822 No OPA1 736 c.2208T>G p.F736L F718L COSM257602 1 YES 0.449 No OPA1 774 c.2320G>A p.E774K E756K COSM460826 1 YES 0.462 No OPA1 857 c.2569A>G p.N857D N839D COSM269765 1 YES 0.473 No OPA1 938 c.2813T>C p.I938T I920T COSM1218454 1 YES 0.462 No OPA1 952 c.2854C>A p.Q952K Q934K COSM325999 1 YES 0.506 No OPA1 974 c.2920G>A p.E974K E956K COSM1042655 1 YES 0.406 No OPA3 9 c.26C>T p.A9V COSM190928 1 YES 0.721 No PEO1 104 c.310A>T p.I104F COSM73879 1 YES 0.669 No PEO1 109 c.326G>A p.G109D COSM173465 1 YES 0.784 No PEO1 153 c.457G>A p.E153K COSM1159509 2 YES 0.547 No
PEO1 229 c.685G>C p.D229H COSM213236 1 YES 0.440 No PEO1 233 c.698A>G p.Y233C COSM144796 1 YES 0.417 No PEO1 243 c.727G>A p.A243T COSM200073 1 YES 0.340 No PEO1 341 c.1022G>T p.R341L COSM536792 1 YES 0.393 No PEO1 343 c.1028T>C p.L343P COSM913997 1 YES 0.623 No PEO1 357 c.1070G>A p.R357H COSM1157856 1 YES 0.483 No PEO1 438 c.1314C>A p.N438K COSM159448 1 YES 0.577 No PEO1 473 c.1417C>T p.H473Y COSM465179 1 YES 0.333 No PEO1 488 c.1462T>C p.F488L COSM914001 1 YES 0.721 No PEO1 491 c.1471C>G p.Q491E COSM1188026 1 YES 0.466 No PEO1 495 c.1484G>T p.R495M COSM682483 1 YES 0.404 No PEO1 499 c.1495G>T p.D499Y COSM1188027 1 YES 0.516 No PEO1 540 c.1618G>T p.G540W COSM536791 1 YES 0.478 No PEO1 553 c.1657G>C p.V553L COSM301783 1 YES 0.474 No PEO1 615 c.1843G>A p.G615S COSM536790 1 YES 0.810 No PINK1 209 c.625C>T p.P209S COSM284026 1 YES 0.278 No PINK1 215 c.644C>T p.P215L COSM13351 1 YES 0.449 No PINK1 359 c.1076C>T p.A359V COSM276758 1 YES 0.489 No PINK1 394 c.1181T>A p.I394N COSM299977 1 YES 0.391 No PINK1 407 c.1219C>T p.R407W COSM903279 1 YES 0.686 No PINK1 409 c.1225G>C p.G409R COSM678819 1 YES 0.980 No PINK1 482 c.1444G>A p.V482M COSM72183 1 YES 0.632 No PINK1 504 c.1510G>A p.A504T COSM463872 1 YES 0.546 No POLG 241 c.722C>T p.P241L COSM241212 1 YES 0.357 No POLG 327 c.979A>C p.K327Q COSM288244 1 YES 0.214 No POLG 427 c.1281G>A p.M427I COSM197746 1 YES 0.603 No POLG 443 c.1328G>T p.R443L COSM702186 1 YES 0.331 No POLG 457 c.1370G>T p.R457L COSM556359 1 YES 0.396 No POLG 496 c.1488G>T p.K496N COSM434512 1 YES 0.377 No POLG 523 c.1569T>A p.D523E COSM1163104 1 YES 0.222 No POLG 546 c.1637G>A p.R546H COSM471216 1 YES 0.276 No POLG 661 c.1981C>G p.L661V COSM966307 1 YES 0.286 No POLG 676 c.2027C>T p.A676V COSM292274 1 YES 0.323 No POLG 709 c.2126G>T p.R709L COSM556360 1 YES 0.410 No POLG 797 c.2391G>C p.M797I COSM556361 1 YES 0.624 No POLG 807 c.2419C>T p.R807C COSM1221462 1 YES 0.931 No
POLG 823 c.2467C>A p.R823S COSM556362 1 YES 0.456 No POLG 825 c.2473G>A p.V825M COSM72244 1 YES 0.312 No POLG 840 c.2519T>C p.I840T COSM556363 1 YES 0.758 No POLG 944 c.2830G>C p.E944Q COSM471215 1 YES 0.554 No POLG 1000 c.2998G>A p.E1000K COSM13897 1 YES 0.559 No POLG 1026 c.3076C>T p.R1026C COSM197744 1 YES 0.562 No POLG 1039 c.3117G>C p.K1039N COSM556364 1 YES 0.459 No POLG 1047 c.3140G>T p.R1047L COSM556365 1 YES 0.701 No POLG 1071 c.3211C>T p.R1071C COSM556366 2 YES 0.584 No POLG 1086 c.3257C>T p.S1086L COSM458937 1 YES 0.349 No POLG 1148 c.3443G>A p.R1148H COSM1162068 1 YES 0.767 No POLG 1217 c.3650C>T p.A1217V COSM284133 1 YES 0.297 No POLG2 6 c.16G>T p.A6S COSM707635 1 YES 0.229 No POLG2 12 c.36G>T p.K12N COSM296513 1 YES 0.335 No POLG2 26 c.76G>C p.D26H COSM417399 1 YES 0.220 No POLG2 34 c.101C>T p.T34M COSM40849 1 YES 0.183 No POLG2 272 c.814A>C p.N272H COSM707636 1 YES 0.409 No POLG2 283 c.848G>A p.G283D COSM982895 1 YES 0.407 No POLG2 314 c.942G>A p.M314I COSM982894 2 YES 0.580 No POLG2 328 c.983G>A p.R328Q COSM473201 1 YES 0.735 No POLG2 368 c.1103A>C p.H368P COSM1162024 1 YES 0.509 No POLG2 381 c.1141A>G p.I381V COSM473200 1 YES 0.468 No POLG2 442 c.1324T>A p.L442M COSM473199 1 YES 0.582 No POLRMT 89 c.266C>T p.A89V COSM267228 1 YES 0.285 No POLRMT 108 c.324G>C p.Q108H COSM459830 1 YES 0.226 No POLRMT 147 c.439C>A p.P147T COSM1002860 1 YES 0.191 No POLRMT 294 c.881C>T p.P294L COSM1221533 1 YES 0.663 No POLRMT 458 c.1372C>T p.R458C COSM1221532 1 YES 0.475 No POLRMT 786 c.2356G>A p.A786T COSM714021 1 YES 0.669 No POLRMT 826 c.2476G>C p.E826Q COSM88643 1 YES 0.331 No POLRMT 848 c.2542C>G p.L848V COSM459831 1 YES 0.801 No POLRMT 875 c.2623G>A p.A875T COSM1221531 1 YES 0.782 No POLRMT 958 c.2872G>A p.G958S COSM568191 1 YES 0.505 No POLRMT 971 c.2911G>A p.A971T COSM1002846 1 YES 0.514 No POLRMT 1029 c.3086C>T p.S1029F COSM714023 1 YES 0.853 No POLRMT 1136 c.3406G>A p.A1136T COSM1002837 1 YES 0.799 No
SDHA 110 c.328G>T p.A110S COSM737284 1 YES 0.710 No SDHA 126 c.376A>C p.T126P COSM1067040 1 YES 0.914 No SDHA 176 c.528G>C p.Q176H COSM737283 1 YES 0.577 No SDHA 208 c.622T>C p.S208P COSM1067046 1 YES 0.756 No SDHA 229 c.686G>A p.G229E COSM1067048 1 YES 0.662 No SDHA 236 c.706G>A p.A236T COSM277194 1 YES 0.667 No SDHA 240 c.718G>C p.E240Q COSM247233 2 YES 0.255 No SDHA 248 c.743G>C p.R248T COSM290530 1 YES 0.622 No SDHA 331 c.991G>A p.A331T COSM284843 1 YES 0.736 Yes 1 ASN SDHA 379 c.1135C>T p.R379C COSM267390 1 YES 0.769 No SDHA 379 c.1136G>T p.R379L COSM591868 1 YES 0.714 No SDHA 469 c.1405C>A p.L469M COSM591867 1 YES 0.366 No SDHA 554 c.1661G>A p.R554Q COSM738214 1 YES 0.642 No SDHA 583 c.1747G>C p.E583Q COSM591819 1 YES 0.464 No SDHA 584 c.1750G>A p.A584T COSM1067145 1 YES 0.469 No SDHA 585 c.1754G>A p.R585Q COSM1067147 1 YES 0.917 No SDHA 593 c.1778C>T p.A593V COSM177948 1 YES 0.665 No SDHA 658 c.1973C>A p.P658Q COSM591818 1 YES 0.740 No SDHB 33 c.98C>T p.A33V COSM899772 1 YES 0.369 No SDHB 63 c.187G>A p.V63I COSM530928 1 YES 0.472 No SDHB 94 c.281G>C p.R94T COSM677085 1 YES 0.733 No SDHB 163 c.488C>A p.S163Y COSM284844 1 YES 0.352 No SDHB 198 c.593G>A p.S198N COSM95234 1 YES 0.625 No SDHB 209 c.626C>A p.P209H COSM181960 1 YES 0.839 No SDHB 211 c.632T>C p.V211A COSM463435 1 YES 0.585 No SDHB 265 c.793G>C p.E265Q COSM458393 1 YES 0.320 No SDHC 11 c.31C>T p.R11C COSM414371 1 YES 0.691 No SDHD 45 c.134G>A p.G45E COSM540695 1 YES 0.732 No SDHD 76 c.227T>A p.L76H COSM466328 1 YES 0.811 No SDHD 117 c.350G>T p.G117V COSM284845 1 YES 0.903 No SDHD 120 c.359T>C p.L120S COSM1127911 1 YES 0.557 No SDHD 126 c.376G>T p.A126S COSM140674 1 YES 0.435 No SSBP1 50 c.149G>A p.G50E COSM137952 1 YES 0.403 No SSBP1 56 c.167T>G p.I56R COSM76594 1 YES 0.575 No SSBP1 58 c.172T>G p.S58A COSM1227625 1 YES 0.711 No SSBP1 74 c.221A>T p.Q74L COSM745329 1 YES 0.481 No
SSBP1 84 c.250T>C p.W84R COSM205318 1 YES 0.875 No SSBP1 107 c.320G>A p.R107Q COSM205319 1 YES 0.536 No TFAM 105 c.314C>T p.A105V COSM271556 1 YES 0.699 No TFAM 114 c.341T>G p.I114R COSM684830 1 YES 0.814 No TFAM 130 c.388G>A p.E130K COSM1187945 1 YES 0.402 No TFAM 143 c.429G>A p.M143I COSM1128029 1 YES 0.263 No TFAM 173 c.517G>T p.A173S COSM684829 1 YES 0.466 No TFAM 178 c.533C>A p.P178Q COSM465787 1 YES 0.699 No TK2 84 c.251A>G p.D84G D42G COSM1229330 1 YES 0.208 No TK2 240 c.719G>T p.R240M R198M COSM703937 1 YES 0.668 No TK2 243 c.729G>T p.E243D E201D COSM174046 1 YES 0.853 No UCP1 7 c.20C>T p.S7L COSM732534 1 YES 0.319 No UCP1 68 c.203C>A p.T68K COSM326812 1 YES 0.421 No UCP1 74 c.221T>A p.L74H COSM732535 1 YES 0.794 No UCP1 92 c.274A>G p.R92G COSM291092 1 YES 0.878 No UCP1 122 c.365C>T p.T122M COSM447414 1 YES 0.544 No UCP1 208 c.622T>A p.L208I COSM480899 1 YES 0.530 No UCP1 289 c.865T>C p.F289L COSM76940 1 YES 0.663 No UCP2 27 c.79G>A p.A27T COSM195855 1 YES 0.840 No UCP2 71 c.212G>A p.R71H COSM1231655 1 YES 0.701 Yes 1 AFR 1 ASN UCP2 133 c.397G>T p.V133L COSM690738 1 YES 0.619 No UCP2 285 c.853G>A p.V285M COSM1231654 1 YES 0.717 No UCP2 289 c.865G>A p.V289I COSM1231656 1 YES 0.628 No UCP3 70 c.209G>A p.R70Q COSM690735 1 YES 0.769 Yes 1 AFR 1 ASN UCP3 87 c.260G>A p.R87H COSM1231658 1 YES 0.868 No UCP3 89 c.267G>A p.M89I COSM690736 1 YES 0.535 No UCP3 144 c.431T>G p.F144C COSM690737 1 YES 0.791 No UCP3 152 c.455C>T p.P152L COSM136851 1 YES 0.394 No UCP3 161 c.481G>T p.G161W COSM303512 1 YES 0.737 No UCP3 201 c.602A>G p.D201G COSM221548 2 YES 0.737 No UCP3 299 c.896G>T p.R299L COSM545046 1 YES 0.592 No UQCR10 5 c.14C>A p.T5K COSM166873 1 YES 0.251 No UQCR11 35 c.103G>A p.A35T COSM564985 1 YES 0.531 No UQCR11 38 c.113G>T p.W38L COSM564986 1 YES 0.686 No UQCR11 55 c.163G>C p.D55H COSM78749 1 YES 0.537 No UQCRB 3 c.8G>T p.G3V COSM606751 1 YES 0.177 No
UQCRB 5 c.14A>G p.Q5R COSM606752 1 YES 0.380 No UQCRB 6 c.17C>G p.A6G COSM78750 1 YES 0.456 No UQCRB 100 c.298C>T p.R100W COSM752431 1 YES 0.606 Yes 1 EUR UQCRB 111 c.332A>C p.K111T COSM198997 1 YES 0.300 No UQCRC1 82 c.244G>A p.E82K COSM300211 1 YES 0.904 No UQCRC1 94 c.282G>T p.E94D COSM1045890 1 YES 0.934 No UQCRC1 152 c.456G>T p.Q152H COSM1186285 1 YES 0.602 No UQCRC1 175 c.525T>G p.N175K COSM1231860 1 YES 0.533 No UQCRC1 179 c.537G>T p.M179I COSM140449 1 YES 0.540 No UQCRC1 343 c.1028C>T p.T343I COSM1231859 1 YES 0.775 No UQCRC1 363 c.1089G>A p.M363I COSM1131417 1 YES 0.298 No UQCRC1 380 c.1139G>T p.C380F COSM1179517 1 YES 0.702 No UQCRC1 422 c.1265G>A p.R422H COSM242183 2 YES 0.622 No UQCRC1 472 c.1414C>T p.R472C COSM1045886 1 YES 0.739 No UQCRC1 479 c.1435C>T p.R479C COSM294933 1 YES 0.711 No UQCRC2 101 c.301C>A p.R101S COSM557207 1 YES 0.715 No UQCRC2 143 c.427G>A p.A143T COSM1231862 1 YES 0.455 No UQCRC2 147 c.439C>T p.R147C COSM167876 1 YES 0.662 No UQCRC2 208 c.623T>A p.F208Y COSM32283 1 YES 0.743 No UQCRC2 230 c.689T>C p.L230P COSM242184 1 YES 0.907 No UQCRC2 248 c.742G>T p.G248C COSM968516 1 YES 0.540 No UQCRC2 303 c.908G>A p.S303N COSM702316 1 YES 0.381 No UQCRC2 353 c.1057G>T p.A353S COSM286363 1 YES 0.675 No UQCRC2 448 c.1343C>A p.P448H COSM557206 1 YES 0.781 No UQCRFS1 83 c.247A>G p.I83V COSM474494 4 YES 0.544 No UQCRFS1 92 c.275G>A p.R92H COSM1231863 1 YES 0.796 No UQCRFS1 108 c.322G>A p.E108K COSM710562 1 YES 0.633 No UQCRFS1 157 c.470C>G p.S157C COSM565706 1 YES 0.586 No UQCRFS1 169 c.506G>T p.W169L COSM565707 1 YES 0.825 No UQCRFS1 198 c.593C>A p.P198Q COSM418347 1 YES 0.616 No UQCRFS1 249 c.747C>G p.I249M COSM710563 1 YES 0.707 No UQCRFS1 265 c.793T>C p.F265L COSM994352 1 YES 0.605 No UQCRFS1 272 c.815T>C p.I272T COSM286364 1 YES 0.454 No UQCRH 29 c.86C>T p.P29L COSM139285 1 YES 0.587 No UQCRH 68 c.203C>T p.T68M COSM298165 1 YES 0.482 No UQCRQ 65 c.193G>C p.E65Q COSM589264 2 YES 0.272 No