Table 7 Germ-line polymorphisms in the D-loop sequence of VSCC patients.

73

A > G

15,16,17,25, 26,27,29,30,

38,40,41,42,

45,46,49,50,51

17

309/1555/1/0/0

pancreatic cancer,

thyroid tumor,

oral cancer aging brains, POLG/PEO & control muscle,

0.056

Very common

93

A > G

27

1

1824/41/0/0/0

ovarian cancer

0.432

Japan Finland,

Italy India

97

G > A

33

1

Nd

Polymorphism

-

Nd

103

GCC > DEL GCC

33

1

Nd

oral cancer

-

Nd

111

A > C

33

1

Nd

Polymorhism

-

Nd

146

T > C

15,33,49,51

4

1/0/190/1674/0

prostate tumor, ovarian carcinoma elderly fibroblasts, aging/AD brains,

POLG/PEO & control muscle,

0.316

Africa, Japan, Taiwan, Finland, Italy, Spain, Algerian Jew, India, Polynesia, Caucasi

150

C > T

16,41,50

3

0/2/1616/247/0

lung tumor,

thyroid tumor elderly fibroblasts/leukocytes

1

China, Japan, Berbers, Italy

151

C > T

16

1

0/0/1817/48/0

Polymorphism

0.484

Japan, Finland, Sweden, India

152

T > C

13,26,33,49

4

0/0/396/1469/0

pancreatic cancer, ovarian carcinoma, oral cancer

aging brains, elderly fibroblasts,

0.803

Africa, China, Japan, American, Finland, Italy

189

A > G

26,29

2

1782/75/8/0/0

prostate tumor elderly muscle, POLG/PEO muscle

& fibroblasts, aging brains

0.271

Japan, Finland, India

194

C > T

26,29

2

0/0/1797/68/0

POLG/PEO muscle

0.236

Japan, Indian

195

T > C

26,29,39,42, 44, 46,50

8

11/0/280/1574/0

lung-cancer cells,

thyroid tumor,

oral cancer

elderly fibroblasts, aging/AD brains,

0.042 O

Africa, Japan, American, Finland, Italy, Caucasian

199

T > C

29

1

0/0/121/1741

ovarian cancer,

POLG/MNGIE muscle

1.000

Japan, Finland, India

204

T > C

26,29

2

0/0/123/1741/0

oral cancer,

prostate tumor

0.679

Japan, Finland, India

207

G > A

26,29

2

123/1742/0/0/0

oral cancer, prostate tumor,thyroid tumor

0.679

Japan, Finland, India

242

C > T

15

1

0/0/1854/11/0

POLG/PEO muscle

0.148

Extremely rare, American, Finland

259

A > G

40

1

1866/1/0/0/0

Liver cancer

0.026 O

Extremely rare, Thaiwan

263

A > G

13,15,16,17,

18,22,25,26,

27,28,29,30,

33,34,38,39,

40,41,42,44,45,46,49,50,51

25

6/1861/0/0/0

oral cancer POLG/MNGIE muscle,

1.000

Africa, Japan, China,

Australia, American, Finland, India

285

C > T

46

1

0/0/1860/7/0

elderly fibroblasts

0.101

Extremely rare, Italy, India

295

C > T

15

1

4/0/1788/75/0

Glioblastoma,POLG/MNGIE muscle

1.000

American, Finland, India, Caucasian

303

C7 > C8 ins

16,17,26,28,29,30,38,39,40,41,42,45,51

13

-

multiple tumor types

Africa, Japan, Taiwan,

Finland, Italy, Spain, India, Polynesia, Caucasian,

Ashkenazi Jew, American, Australia

303

C7 > C9

Ins

18

1

-

multiple tumor types

Africa, Japan, Taiwan,

Finland, Italy, Spain, India, Polynesia, Caucasian,

Ashkenazi Jew, American, Australia

311

C5 > C6

Ins

13,15,16,17,

18,22,25,26,

27,28,29,30,

33,34,38,39,40,41,42,44,45,46,49,50,51

25

-

multiple tumor types

Africa, Japan, Taiwan,

Finland, Italy, Spain, India, Polynesia, Caucasian,

Ashkenazi Jew, American, Australia

385

A > G

46

1

1861/5/0/1/0

Twinkle/PEO frontal cortex

0.077

Extremely rare, Koraga

431

C > T

39

1

1/0/1852/14/0

ovarian cancer

0.181

Rare,Japan

462

C > T

15

1

0/0/2073/71/0

thyroid tumor

0.572

American, Finland, India, Caucasian

477

T > C

13,34

2

0/1/19/2124/0

ovarian tumor

AD brains

0.023 O

Rare, American, European

489

T > C

15

1

0/0/777/1367

ovarian carcinoma prostate tumor

0.000 U

Africa, China, Japan,

American, Finland, Italy, India

498*

C > del C

49

1

0/0/2143/1/0

0.023 O

Extremely rare

499

G > A

50

1

38/2106/0/0/0

thyroid tumor prostate tumors

0.366

Japan

514

CA5 > CA4

25,39,41,44, 46

5

-

ovarian carcinoma, thyroid tumors,

gastric carcinomas

-

Nd

514

CA5 > CA6

29,49,

2

-

ovarian carcinoma & control tissue,

thyroid tumors, breast tumors

-

Nd

533

A > G

16

1

2142/2/0/0/0

Polymorphism

0.034 O

Extremely rare,

Japan, Sicily

16069

C > T

15

1

0/0/1793/73/0

oral cancer

1.000

American, Caucasian,

Finland, Italy

16092

T > C

15,16,39

3

0/0/22/1845/0

oral cancer

0.004 O

Extremely rare, Japan, India

16114

C > A

45

1

8/0/1858/1/0

Polymorphism

0.113

Extremely rare, Japan, Finland

16124

T > C

29

1

0/0/9/1858

Polymorphism

0.125

Extremely rare,South Africa, Korea

16126

T > C

15,17,25,42,51

5

0/0/166/1701/0

oral cancer

0.069

China, Japan, American, Finland, Italy, India

16129

G > A

33

1

304/1554/9/0/0

oral cancer

0.164

Arica, Japan, America, Italy

16145

G > A

15

1

50/1817/0/0/0

oral cancer

0.497

Japan, American, Finland, Italy

16172

T > C

15

1

0/0/150/1717/0

head/neck tumor

back-mutation, oral cancer MNGIE tissues,

0.716

Japan, Morocco, Finland, Europe

16179

C > T

50

1

0/0/1862/5/0

Polymorphism

0.077

Asia, Austrlia

16182

A > C

22,41,42,46

4

1706/1/117/2/41

prostate tumor

0.071

China, Japan, Finland, Taiwan Aborigine, India

16183

A > C

41,42

2

1541/12/237/0/77

lung tumor back-mutation, prostate tumor

0.761

China, Japan, Finland, Taiwan Aborigine, India

16189

T > A

39

1

0/0/522/1345/0

Polymorphism

0.013 O

Extremely rare

16189

T > CC

22

1

-

endometrial tumor, familial breast

cancer

16189

T > C

41,45,42,46

4

0/0/522/1345/0

endometrial tumor, familial breast

caner

0.261

16192

C > T

16,27,29,38,

40,45

6

0/0/1854/13/0

oral cancer

0.000 O

Japan, Finland, Italy

16222

C > T

15

1

0/0/1852/15/0

oral cancer

0.192

American,

16223

C > T

26,29

2

0/0/992/875/0

oral cancer

0.000 U

Africa, Japan, China,

Australia, India, Finland,

Ashkenazi Jews

16224

T > C

33,49

2

0/0/107/1760/0

oral cancer

0.652

Japan, American, Finland,

Ashkenazi Jews

16231

T > C

51

1

0/0/11/1856/0

oral cancer

0.148

Extremely rare, Japan

16234

C > T

26

1

0/0/1800/67/0

oral cancer

0.602

China, Japan, Ashkenazi Jews

16248

C > T

51

1

0/0/1865/2/0

ovarian tumor

0.039 O

Extremely rare,

Spain, India

16249

T > C

46

1

0/0/87/1780/0

prostate tumor

1.000

Ethiopia, Japan, Italy

16256

C > T

27,38,40,45

4

0/0/1838/29/0

ovarian tumor

0.001 O

Japan, Finland, India

16261

C > T

15

1

0/0/1756/111/0

oral cancer

1.000

Japan,Taiwan Aborigine, American, India

16266

C > T

52

1

9/4/1820/34/0

oral cancer

0.375

Japan, India

16270

C > T

16,27,38,40,41,45

6

0/0/1802/65/0

oral cancer

0.000 O

Finland, Italy, India

16272

A > G

25

1

1865/2/0/0/0

Polymorphism

0.039 O

Extremely rare Taiwan Aborigine, India

16291

C > T

38

1

0/3/1816/48/0

0.483

Japan, Italy

16292

C > T

26,29

2

0/2/1801/64/0

breast, ovarian, head/neck tumor,

oral tumor

0.216

Japan, Finland, Italy

16293

A > G

39

1

1848/17/2/0/0

glioblastoma

0.214

Rare, Italy, India

16294

C > T

17,25,45

3

0/0/1760/107/0

-

1.000

Japan, American, Finland, Italy

16296

C > T

17,25

2

0/0/1823/44/0

head/neck tumor

0.122

American, Italy, India

16298

T > C

42

1

0/0/169/1698/0

oral cancer

prostate tumor

0.721

China, Japan, Finland, American

16300

A > G

29

1

1861/6/0/0/0

head/neck tumor

0.089

Extremely rare,

Japan

16301

C > T

39

1

0/0/1860/7/0

esophageal, breast & prostate tumors

0.101

Extremely rare Melanesia

16304

T > C

25

1

0/0/140/1727/0

esophageal, breast & prostate tumors

1.000

Japan, American, Finland, Italy

16311

T > C

33,39,49

3

0/0/340/1526/0

oral cancer

0.602

Africa, Japan, China,

American, Finland, Italy, India

16324

T > C

17

1

0/0/49/1818/0

esophageal cancer

0.490

Japan, Taiwan Aborigine

16325

T > C

29

1

0/0/47/1820/0

Polymorphism

0.476

Japan, India

16356

T > C

22,50,

2

0/0/27/1840/0

oral cancer

0.055

India, Australian, Aboriginee

16362

T > C

46

1

1/0/444/1422

oral cancer

0.016 O

India, Australian, Aboriginee

16368

T > C

49

1

0/0/15/1852/0

gastric carcinoma

0.192

Extremely rare,

Japan, Italy

16399

A > G

38,40,

2

1828/38/0/0/0

gastric carcinoma

oral cancer

0.096

Japan, Italy

16519

T > C

13,17,18,22,25,26,28,29,33,34,41,42,49,50,51

15

0/0/1115/752/0

pancreatic, cancer,oral cancer, gastric, lung, ovarian

tumor

1.000

Africa, Japan, Caucasian, China, American, Finland, Italy, India

16526

G > A

45

1

19/1848/0/0/0

Polymorphism

0.235

Finland, Onge

225