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Table S2 PCMs covered by both the Denisovan sequence and the Neanderthal sequence

From: Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

HGMD

Acc

Chr

Location

Strand

Tag

Disease

Gene

Mutation

AA seq

Type

CM031993

Chr1

9246497

+

DFP

Cortisone reductase

deficiency, partial

H6PD

G > A:AAA

Arg-Gln

Human

CM040788

Chr1

11828655

-

DP

Stroke, increased

risk, association with

NPPA

A > G:GGG

Term-Arg

Human

CM100611

Chr1

12005513

+

DFP

Breast cancer,

reduced risk,

association with

MIIP

A > G:GGG

Lys-Glu

Human

CM980072

Chr1

21767322

+

DFP

Hypophosphatasia,

association with

ALPL

T > C:CCC

Tyr-His

Human

CM056598

Chr1

31865112

+

DP

Polydipsia-

hyponatraemia,

association with

HCRTR1

A > G:GAA

Ile-Val

Chimpanzee

CM994122

Chr1

35033356

+

DFP

Atherosclerosis,

association with

GJA4

C > T:TTT

Pro-Ser

Human

CM065514

Chr1

55410663

-

DP

Parkinson's disease,

risk, association with

USP24

G > A:AAA

Thr-Ile

Human

CM073141

Chr1

67457975

+

DP

Psoriasis, increased

risk, association with

IL23R

T > C:CCC

Leu-Pro

Human

CM993347

Chr1

67633930

+

DM

Atopy

IL12RB2

A > G:GAA

His-Arg

Chimpanzee

CM067986

Chr1

86873963

+

DP

Chloride channel

deficiency,

association with

CLCA3P

C > G:GGG

Tyr-Term

Human

CM042258

Chr1

94337039

-

DM

Stargardt disease

ABCA4

T > G:GGT

Lys-Gln

Denisova

and

chimpanzee

CM067656

Chr1

156491643

+

DP

Guillain-Barre '

syndrome, reduced

risk, association

with?

CD1A

C > G:GGC

Cys-Trp

Denisova

and

chimpanzee

CM070090

Chr1

167765599

-

DM

Thrombosis?

F5

C > T:CTC

Val-Met

Denisovan

CM099896

Chr1

173615346

-

DP

Schizophrenia,

association with

TNR

C > T:TTT

Arg-Lys

Human

CM023569

Chr1

199313698

-

DP

Hypokalaemic

periodic paralysis,

association with?

CACNA1S

G > A:GRA

Gly-Gly

Unsure

CM920010

Chr1

228912417

-

DP

Hypertension,

association with

AGT

A > G:GGG

Met-Thr

Human

CM065155

Chr1

240108924

+

DP

Colorectal cancer,

increased risk,

association with

EXO1

G > A:AAA

Glu-Lys

Human

CM033447

Chr10

42926693

+

DP

Hirschsprung

disease, association

with

RET

A > G:GGG

Ala-Ala

Human

CM068190

Chr10

54198272

-

FP

Increased serum

mannose-binding

lectin (MBL) level,

association with?

MBL2

C > G:CGG

Leu-Leu

Ancient

CM033482

Chr10

64085190

+

DP

Uric acid

nephrolithiasis,

association with

znf365d

G > A:GGA

Ala-Thr

Neanderthal

CM067461

Chr10

81691702

-

DP

Lung cancer,

susceptibility to,

association with

SFTPD

T > C:CCC

Thr-Ala

Human

CM035804

Chr11

524242

-

DP

Bladder cancer,

association with?

HRAS

A > G:GAG

His-His

Neanderthal

and

chimpanzee

CM025891

Chr11

74585230

+

FP

Decreased enzyme

activity, association

with

SLCO2B1

C > T:TTT

Ser-Phe

Human

CM080415

Chr11

113308238

+

FP

Altered receptor

function, association

with

HTR3B

A > C:CCC

Tyr-Ser

Human

CM950862

Chr12

5473868

+

DP

Schizophrenia,

severe, increased

risk, association with

NTF3

G > A:AGG

Gly-Glu

Chimpanzee

CM093840

Chr12

6023795

-

DP

von Willebrand

disease, quantitative

type, association

with

VWF

T > C:CCC

Thr-Ala

Human

CM994637

Chr12

6327323

-

DFP

Hypertension,

reduced risk,

association with

SCNN1A

T > C:CCC

Thr-Ala

Human

CM003671

Chr12

14884706

-

FP

Dombrock blood

group variation

ART4

T > C:TCC

Asn-Asp

Ancient

CM077900

Chr12

70659129

+

FP

Increased mRNA

expression,

association with?

TPH2

G > A:GAA

Pro-Pro

Ancient

CM085048

Chr12

78539038

-

DP

Schizophrenia in

females, association

with

PAWR

A > C:CCC

Ile-Met

Human

CM033453

Chr12

107542027

-

DFP

Coronary heart

disease, decreased

risk, in African

Americans,

association with

SELPLG

C > T:TTT

Met-Ile

Human

CM022034

Chr13

32526193

+

DP

Age-related

phenotypes,

association with

KL

G > C:CGG

Cys-Ser

Chimpanzee

CM033777

Chr14

24170122

-

DP

Apoptosis, unable to

induce, association

with

GZMB

A > G:GGG

Tyr-His

Human

CM070246

Chr14

60993992

+

DFP

Cerebral infarction,

association with

PRKCH

G > A:AAA

Val-Ile

Human

CM067476

Chr15

41511938

-

DP

Lung cancer,

susceptibility to,

association with

TP53BP1

T > G:GGG

Lys-Gln

Human

CM067475

Chr15

41555066

-

DP

Lung cancer,

susceptibility to,

association with

TP53BP1

G > C:CCC

Asp-Glu

Human

CM085365

Chr15

43185730

-

DM

Hypothyroidism

DUOX2

T > C:CCC

His-Arg

Human

CM054862

Chr15

46213776

+

DP

Increased skin

pigmentation,

association with

SLC24A5

A > G:GGG

Thr-Ala

Human

CM057869

Chr15

76704628

-

FP

Altered function,

association with

CHRNB4

T > C:CTT

Met-Val

Chimpanzee

CM031698

Chr15

97295748

+

DP

Increased longevity,

association with?

IGF1R

G > A:AGG

Glu-Glu

Chimpanzee

CM057585

Chr16

1442858

-

DP

Lower femoral neck

bone mineral density

in women,

association with

CLCN7

C > T:TCT

Val-Met

Neanderthal

and

chimpanzee

CM983400

Chr16

27263704

+

DFP

Asthma, atopic,

association with

IL4R

A > G:GGG

Ile-Val

Human

CM067985

Chr16

87788983

+

DP

Cadherin deficiency,

association with

CDH15

C > A:AAA

Tyr-Term

Human

CM057933

Chr17

4585312

-

DP

Atherosclerotic

stenosis, increased,

association with

CXCL16

G > A:AAG

Ala-Val

Denisova

and

chimpanzee

CM077855

Chr17

7532893

+

DP

Breast cancer,

oestrogen receptor

(ER) negative,

association with?

WRAP53

C > G:GGG

Arg-Gly

Human

CM087381

Chr17

7987497

-

FP

Increased sex

hormone-binding

globulin levels,

association with

PER1

C > G:GGG

Ala-Pro

Human

CM067489

Chr17

16468520

-

DP

Lung cancer,

susceptibility to,

association with

ZNF624

C > A:AAA

Lys-Asn

Human

CM030773

Chr17

19753133

-

DP

Cardiac disease,

susceptibility to,

association with

AKAP10

T > C:CCC

Ile-Val

Human

CM067336

Chr17

19802050

-

DP

Lung cancer,

susceptibility to,

association with

AKAP10

C > T:TTT

Arg-His

Human

CM096315

Chr17

38498462

-

DFP

Cervical cancer,

decreased risk,

association with

BRCA1

G > A:AAA

Pro-Leu

Human

CM093418

Chr17

39581073

+

DP

Hip bone mineral

density, association

with?

C17orf53

A > C:CCC

Thr-Pro

Human

CM032397

Chr17

41432502

+

DP

Progressive

supranuclear palsy,

association with

STH

A > G:GAA

Gln-Arg

Chimpanzee

CM064363

Chr17

45788957

+

DP

Organ involvement

in pseudoxantnoma

elasticum (PXE),

association with

XYLT2

T > C:CCC

Tyr-Tyr

Human

CM092499

Chr17

76468818

+

FP

Altered splicing,

association with?

KIAA1303

A > G:GAA

Gln-Gln

Chimpanzee

CM080431

Chr19

11091881

+

FP

Increased plasma

low-density

lipoprotein

cholesterol,

association with

LDLR

T > C:CTT

Val-Val

Chimpanzee

CM984025

Chr19

18047618

-

DM

Mycobacterial

infection

IL12RB1

T > C:CCT

Gln-Arg

Denisova

and

chimpanzee

CM044918

Chr19

41022117

-

DM

Congenital nephrotic

syndrome, Finnish

type

NPHS1

C > G:GGG

Val-Leu

Human

CM073386

Chr19

50087554

+

DP

Alzheimer's disease,

late-onset,

association with?

TOMM40

T > C:CCC

Phe-Phe

Human

CM004814

Chr19

50546759

-

DFP

Basal cell carcinoma,

reduced risk,

association with

ERCC2

T > G:GGG

Lys-Gln

Human

CM096319

Chr2

11276571

-

DP

Chronic kidney

disease in individuals

with low

triglycerides,

association with

ROCK2

G > T:TGT

Thr-Asn

Neanderthal

and

chimpanzee

CM052876

Chr2

49043425

-

DP

Menstrual cycle

length, association

with

FSHR

C > T:TTT

Ser-Asn

Human

CM073086

Chr2

85634047

-

DP

Higher body mass

index, association

with

GGCX

C > T:TCC

Arg-Gln

Chimpanzee

CM087379

Chr2

100957736

+

FP

Higher testosterone

levels, association

with

NPAS2

A > G:GGG

Thr-Ala

Human

CM004559

Chr2

227369287

-

DP

Diabetes, type 2,

association with

IRS1

T > C:CCT

Ala-Ala

Denisova

and

chimpanzee

CM085146

Chr2

227839413

+

DP

Chronic obstructive

pulmonary disease,

association with

COL4A3

A > G:GAA

His-Arg

Chimpanzee

CM014824

Chr20

4653718

+

DP

Creutzfeldt-Jakob

disease, association

with

PRND

C > T:TCT

Thr-Met

Neanderthal

and

chimpanzee

CM064121

Chr20

44075813

+

DP

Leukaemia, risk,

association with

MMP9

G > C:CCC

Arg-Pro

Human

CM035699

Chr21

14403236

-

FP

Plasma high-density

lipoprotein (HDL)

cholesterol,

association with

LIPI

G > T:TTT

Asp-Glu

Human

CM057711

Chr21

33536125

+

DP

Multiple sclerosis,

susceptibility to,

association with

IFNAR2

T > G:GGG

Phe-Val

Human

CM025479

Chr21

44534334

+

DP

Alopecia universalis,

association with

AIRE

C > G:GGG

Ser-Arg

Human

CM057927

Chr22

21957369

+

DP

Bipolar disorder,

association with?

BCR

A > G:GGG

Asn-Ser

Human

CM065332

Chr22

24489289

+

DP

Colorectal cancer,

increased risk,

association with

MYO18B

G > A:AAA

Gly-Glu

Human

CM961339

Chr22

30836050

+

DM

Glucose/galactose

malabsorption

-SLC5A1

C > G:GGC

His-Gln

Denisova

and

chimpanzee

CM096696

Chr22

35792882

-

DP

Iron status and

erythrocyte volume,

association with

TMPRSS6

A > G:GGG

Val-Ala

Human

CM092918

Chr22

37827350

+

FP

Increased

antiretroviral activity,

association with

APOBEC3H

G > C:CCC

Gly-Arg

Human

CM910052

Chr22

49410905

-

DP

Phenotype modifier,

association with?

ARSA

G > C:CCC

Thr-Ser

Human

CM023348

Chr3

336508

+

DP

Schizophrenia,

association with

CHL1

C > T:TTT

Leu-Phe

Human

CM096382

Chr3

46476217

-

DFP

Periodontitis,

aggressive,

association with

LTF

T > C:CCC

Lys-Arg

Human

CM066581

Chr3

126109714

-

DP

Ulcerative colitis,

association with

MUC13

T > G:GGG

Arg-Ser

Human

CM941277

Chr3

172214994

-

DP

Diabetes, type 2,

association with

SLC2A2

G > A:AAG

Thr-Ile

Denisova

and

chimpanzee

CM065290

Chr3

187925712

+

DP

Nephropathy,

reduced risk,

association with

KNG1

T > C:CCC

Met-Thr

Human

CM025429

Chr4

2960297

+

FP

Increased enzymatic

activity, association

with

GRK4

G > T:TTT

Arg-Leu

Human

CM094340

Chr4

38476105

-

DFP

Leprosy, association

with

TLR1

T > C:CCC

Asn-Ser

Human

CM890003

Chr4

100458342

-

FP

Alcohol

dehydrogenase beta

variant

ADH1B

T > C:CCC

His-Arg

Human

CM092574

Chr4

123756413

-

DFP

Asthma, atopic,

association with

IL21

G > A:AAA

Cys-Cys

Human

CM031390

Chr4

141708518

-

DP

Waist-to-hip ratio,

association with

UCP1

C > T:TTT

Ala-Thr

Human

CM004732

Chr5

1464412

-

DP

Parkinson's disease,

protection against,

association with?

SLC6A3

T > C:CTC

Ser-Ser

Neanderthal

and

chimpanzee

CM094298

Chr5

96165006

-

DFP

Cervical carcinoma

survival, association

with

ERAP1

C > G:GGG

Arg-Pro

Human

CM0910115

Chr5

131424377

+

DP

Graves disease,

association with

IL3

C > T:TTT

Pro-Ser

Human

CM043093

Chr6

25958824

-

DM

Glycogen storage

disease 1c?

SLC17A3

C > T:TCC

Gly-Arg

Chimpanzee

CM074911

Chr6

39433056

-

DP

Coronary heart

disease, association

with

KIF6

A > G:GGG

Trp-Arg

Human

CM020385

Chr6

74550153

+

FP

Gov platelet antigen

variation

CD109

A > C:CCC

Tyr-Ser

Human

CM993455

Chr6

132214061

+

DFP

Insulin resistance,

association with

ENPP1

A > C:CCC

Lys-Gln

Human

CM060415

Chr6

150156438

+

FP

Reduced stability,

association with

PCMT1

A > G:AGG

Ile-Val

Ancient

CM072043

Chr6

160462998

+

FP

Reduced metformin

uptake, association

with

SLC22A1

C > T:TCC

Ser-Phe

Chimpanzee

CM005460

Chr7

17345635

+

FP

Higher induced

cytochrome P-450

(CYP) 1A1 activity,

association with

AHR

G > A:AAA

Arg-Lys

Human

CM055287

Chr7

45899194

+

DP

Renal function in

diabetes, association

with

IGFBP1

A > G:GGA

Ile-Met

Denisova

and

chimpanzee

CM072814

Chr7

86894112

-

DM

Intrahepatic

cholestasis, familial

progressive?

ABCB4

T > C:CCC

Arg-Gly

Human

CM064968

Chr7

91468556

+

DP

Colorectal cancer,

increased risk,

association with

AKAP9

G > T:TTT

Met-Ile

Human

CM930596

Chr7

94775382

-

DFP

Longevity, association

with

PON1

T > C:CCC

Gln-Arg

Human

CM050323

Chr7

107129530

+

DM

Pendred syndrome?

SLC26A4

T > G:GTG

Val-Gly

Neanderthal

and

chimpanzee

CM060083

Chr7

122422409

-

DP

Alcohol dependence,

risk, association with

TAS2R16

A > C:CAA

Asn-Lys

Chimpanzee

CM031370

Chr7

141319073

-

DP

Phenylthiocarbamide

taste sensitivity,

association with

TAS2R38

T > C:CCC

Ile-Val

Human

CM031368

Chr7

141319814

-

DP

Phenylthiocarbamide

taste sensitivity,

association with

TAS2R38

C > G:GGG

Ala-Pro

Human

CM081694

Chr8

6466450

+

DP

Cranial volume,

association with

MCPH1

C > T:TTT

Ala-Val

Human

CM024569

Chr8

18124476

+

FP

Increased enzymatic

activity, association

with

NAT1

T > G:GTG

Ser-Ala

Neanderthal

and

chimpanzee

CM983990

Chr8

22032655

-

DM

Alopecia universalis?

HR

T > C:CCC

Thr-Ala

Human

CM057431

Chr8

27518398

-

DP

Preeclampsia &

essential

hypertension,

association with?

CLU

A > G:GGG

His-His

Human

CM950017

Chr8

37942955

-

DFP

Hyperinsulinaemia,

association with

ADRB3

A > G:GGG

Trp-Arg

Human

CM099178

Chr8

118899878

-

DM

Multiple

osteochondromas

EXT1

C > T:TCC

Val-Ile

Chimpanzee

CM081761

Chr8

143758933

+

DFP

Gastric cancer,

diffuse-type,

association with

PSCA

C > T:TTT

Thr-Met

Human

CM094855

Chr9

14712477

-

DP

Low bone mineral

density, association

with

CER1

G > C:CGC

Ala-Gly

Neanderthal

and

chimpanzee

CM940804

Chr9

34639442

+

DFP

Galactosaemia,

Duarte variant

GALT

A > G:GAG

Asn-Asp

Neanderthal

and

chimpanzee

CM071685

Chr9

89511843

+

DP

Inactivation of

extracellular

signal-regulated

kinase (ERK)-induced

apoptosis,

association with

DAPK1

A > G:AGG

Asn-Ser

Ancient

CM990005

Chr9

106626574

-

FP

Higher plasma HDL

cholesterol,

association with

ABCA1

T > C:CCC

Ile-Met

Human

CM0910114

ChrX

77414973

-

DP

Asthma, association

with

CYSLTR1

G > A:AAA

Phe-Phe

Human

CM085353

ChrX

149390017

+

DM

Hypospadias

MAMLD1

T > C:CYC

Val-Ala

Unsure

CR043164

Chr1

43575707

+

DP

Platelet count,

association with?

MPL

C > A:AAA

 

Human

CR060579

Chr1

111020443

-

DP

Low insulin

sensitivity,

association with

KCNA3

T > C:TCC

 

Ancient

CR057791

Chr1

111571946

+

FP

Increased promoter

activity, association

with

CHI3L2

G > T:GGT

 

Neanderthal

CR031479

Chr1

170894121

+

DFP

Systemic lupus

erythematosus (SLE),

association with

FASLG

C > T:TTT

 

Human

CR025943

Chr1

228917021

-

DP

Increased

angiotensinogen

levels, association

with?

AGT

G > A:AGG

 

Chimpanzee

CR102882

Chr10

64279946

-

DFP

SLE, association with

EGR2

C > T:TCC

 

Chimpanzee

CR102883

Chr10

64280724

-

DFP

SLE, association with

EGR2

T > C:CTT

 

Chimpanzee

CR072313

Chr10

94452862

+

DP

Diabetes, type 2,

association with?

HHEX

C > T:TCC

 

Chimpanzee

CR942079

Chr10

104587142

-

DP

Polycystic ovaries,

association with

CYP17A1

A > G:GGG

 

Human

CR012509

Chr11

34416293

+

DP

Hypertension,

susceptibility to,

association with

CAT

G > A:AGA

 

Neanderthal

and

chimpanzee

CR072303

Chr11

44212190

+

DP

Diabetes, type 2,

reduced risk,

association with?

EXT2

C > T:CTT

 

Ancient

CR035965

Chr11

45863406

+

DFP

Alzheimer's disease,

association with

MAPK8IP1

A > G:GGG

 

Human

CR094845

Chr11

74539529

+

FP

Increased mRNA

expression,

association with

SLCO2B1

G > A:AAA

 

Human

CR045957

Chr11

102101690

-

DFP

Preterm premature

rupture of

membranes,

association with?

MMP8

G > A:GGA

 

Neanderthal

CR025510

Chr11

102331749

-

FP

Increased

transcriptional

activity, association

with

MMP13

C > T:TCC

 

Chimpanzee

CR031478

Chr12

10203556

-

DP

Alzheimer disease,

reduced risk,

association with

OLR1

G > A:AAG

 

Denisova

and

chimpanzee

CR082031

Chr12

55796928

-

DP

Schistosomiasis

infection, association

with

STAT6

C > T:TTT

 

Human

CR087739

Chr13

42046024

+

DFP

Bone mineral density

in osteoporosis,

association with?

TNFSF11

C > T:CTC

 

Denisovan

CR080758

Chr13

45577313

-

FP

Increased promoter

activity, association

with

CPB2

T > C:CTT

 

Chimpanzee

CR994765

Chr13

112807756

+

DFP

Reduced plasma F7

levels, association

with

F7

G > T:CTT

 

Unsure

CR066661

Chr15

49336891

-

DP

Alzheimer's disease

in apolipoprotein E4

(APOE4) carriers,

increased risk,

association with

CYP19A1

G > A:AAA

 

Human

CR002154

Chr15

56511231

+

DP

Dyslipidaemia and

insulin resistance,

association with

LIPC

G > A:AGG

 

Chimpanzee

CR993820

Chr15

72828970

+

DFP

Increased activity in

smokers, association

with

CYP1A2

C > A:AAA

 

Human

CR102187

Chr16

13921167

+

DFP

Bladder cancer,

increased risk,

association with

ERCC4

A > C:CAA

 

Chimpanzee

CR066332

Chr16

54244319

+

DFP

Attention-deficit

hyperactivity

disorder, association

with

SLC6A2

A > T:ATA

 

Denisovan

CR000229

Chr16

55552737

+

DFP

Higher HDL

cholesterol level,

association with

CETP

C > A:AAA

 

Human

CR084012

Chr17

25549137

-

FP

Increased expression,

association with

SLC6A4

A > C:CCC

 

Human

CR035881

Chr17

29706729

+

FP

Increased monocyte

chemoattractant

protein-4 (MCP-4)

plasma levels,

association with

CCL13

C > T:CCT

 

Neanderthal

CR003707

Chr17

31231893

-

DFP

Atopic dermatitis,

association with

CCL5

C > T:TTT

 

Human

CR078280

Chr17

35323475

-

DP

Asthma, increased

risk, association

with?

GSDMB

C > T:TTC

 

Denisova

and

chimpanzee

CR090198

Chr17

38531642

-

FP

Promoter activity,

association with

BRCA1

T > C:CCC

 

Human

CR052976

Chr17

43163827

+

DP

Asthma,

aspirin-induced,

association with

TBX21

T > C:CCC

 

Human

CR084013

Chr17

43178034

+

DP

Genital herpes

simplex virus-2

(HSV-2) infection,

association with?

TBX21

G > A:AAA

 

Human

CR051707

Chr19

7718733

-

DFP

Dengue disease,

protection against,

association with

CD209

A > G:GGG

 

Human

CR095376

Chr19

40464739

+

DP

Increased liver iron

concentration

HAMP

A > G:GGA

 

Denisova

and

chimpanzee

CR050427

Chr19

46188969

+

FP

CYP2B6 expression,

association with

CYP2B6

T > C:CCC

 

Human

CR051274

Chr19

54149750

+

DFP

Disease progression,

chronic lymphocytic

leukaemia,

association with

BAX

G > A:GAG

 

Denisovan

CR010588

Chr19

60077416

+

DP

Immunoglobulin A

nephropathy,

association with

FCAR

T > C:CCC

 

Human

CR051277

Chr2

69468799

-

DP

Obesity, association

with

GFPT1

C > T:TTT

 

Human

CR025220

Chr2

234330398

+

DFP

Hyperbilirubinaemia,

association with

UGT1A1

T > G:GGG

 

Human

CR075263

Chr20

17370063

+

DP

Diabetes, type 2,

association with

PCSK2

T > C:CCC

 

Human

CR077665

Chr20

44066518

+

FP

Increased expression,

association with?

MMP9

C > T:TTT

 

Human

CR078166

Chr21

33619134

+

FP

Increased expression,

association with

IFNAR1

T > C:CCT

 

Denisova

and

chimpanzee

CR054260

Chr21

38590628

+

FP

Promoter activity,

association with

KCNJ15

T > G:GTT

 

Chimpanzee

CR096274

Chr21

42492734

+

DFP

Coronary artery

disease, severity,

association with

ABCG1

T > G:GGT

 

Denisova

and

chimpanzee

CR032439

Chr3

12328198

+

DFP

Increased height/lipid

metabolism,

association with

PPARG

C > G:GGG

 

Human

CR066664

Chr3

129680794

-

DP

Coronary artery

disease, association

with

GATA2

G > A:AGG

 

Chimpanzee

CR014438

Chr3

185572960

-

DP

Myocardial infarction,

association with

THPO

C > T:TTT

 

Human

CR004797

Chr4

26101320

-

DP

Higher percentage

body fat, association

with

CCKAR

C > A:ACC

 

Chimpanzee

CR045948

Chr4

69995928

+

FP

Promoter activity,

association with

UGT2B7

G > A:AAA

 

Human

CR025435

Chr4

111053559

+

DFP

Malignant melanoma,

association with

EGF

A > G:GGG

 

Human

CR057903

Chr4

155703465

+

DFP

Cerebral infarction,

association with

FGB

C > T:TTT

 

Human

CR071281

Chr4

156348632

+

DP

Obesity, association

with

NPY2R

C > T:TTT

 

Human

CR071289

Chr5

1499389

-

DP

Attention-deficit

hyperactivity

disorder, association

with

SLC6A3

A > G:GGG

 

Human

CR086597

Chr5

110434641

+

FP

Increased promoter

activity, association

with

TSLP

C > T:TCC

 

Chimpanzee

CR035513

Chr5

131436741

+

DP

Reduced severity in

atopic dermatitis,

association with

CSF2

A > C:CCC

 

Human

CR015845

Chr5

132020708

+

DP

Asthma, association

with

IL13

C > T:TTC

 

Denisova

and

chimpanzee

CR082018

Chr6

78227843

-

DFP

Aggressive behaviour,

association with

HTR1B

C > T:TCC

 

Chimpanzee

CR073540

Chr6

131935252

+

DP

Myocardial infarction,

association with

ARG1

G > T:TTT

 

Human

CR052970

Chr6

132254387

+

DP

Obesity, association

with

ENPP1

A > G:GGG

 

Human

CR075243

Chr6

132314950

-

DFP

Systemic sclerosis,

association with

CTGF

C > G:CGG

 

Ancient

CR075274

Chr6

133077018

-

DP

HDL cholesterol

concentration,

association with

VNN1

A > C:CCC

 

Human

CR077383

Chr6

154401054

+

FP

Increased promoter

activity, association

with

OPRM1

A > G:GGG

 

Human

CR066667

Chr7

30969948

+

DP

Breast cancer,

decreased risk,

association with

GHRHR

C > T:TTT

 

Human

CR092300

Chr7

111902894

+

DFP

Severity in cystic

fibrosis, association

with

IFRD1

C > T:TTT

 

Human

CR068449

Chr7

128381961

+

DP

SLE, association

with?

IRF5

C > T:TTT

 

Human

CR022507

Chr7

136351848

+

DP

Major depression in

women, association

with

CHRM2

T > A:AAA

 

Human

CR971950

Chr8

19840951

+

FP

Lower plasma

triglyceride level,

association with

LPL

T > G:GGG

 

Human

CR023703

Chr8

120034205

-

DP

Decreased bone

mineral density,

association with?

TNFRSF11B

C > T:TTT

 

Human

CR084001

Chr9

70877744

+

DP

Myocardial infarction,

association with

FXN

C > T:TTT

 

Human

CR102176

Chr9

100952292

+

DFP

Breast cancer,

association with

TGFBR1

A > G:GGG

 

Human

CR020827

Chr9

106730271

-

DP

Increased risk of

coronary artery

disease, association

with

ABCA1

G > A:AAA

 

Human

CR045560

Chr9

106730659

-

FP

Reduced plasma

HDL cholesterol,

association with

ABCA1

C > G:GGG

 

Human

CR091269

Chr9

116608587

-

DFP

Crohn's disease,

susceptibility to,

association with

TNFSF15

A > G:GGG

 

Human

CR034594

Chr9

124172343

+

FP

Inhibition of

prostaglandin H2

formation,

association with?

PTGS1

A > G:GAG

 

Neanderthal

and

chimpanzee

CR054255

Chr9

127043845

-

DP

Bipolar disorder,

association with?

HSPA5

T > C:CCC

 

Human

CR077381

ChrX

113724838

+

FP

Reduced promoter

activity, association

with

HTR2C

G > C:CGG

 

Chimpanzee

CR063398

ChrX

135554616

+

FP

Increased soluble

CD40 ligand

(CD40L) levels,

association with

CD40LG

A > G:GGG

 

Human