Skip to main content

Table 1 Nonsense Variants in PPROM Cases Identified by WES

From: Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth

Gene

Transcript

dbSNP141

Chr

Start

End

Ref

Obs

Casesa

Controlsa

One variant allele in PPROM Cohort

 ABCA7

NM_019112.3:p.Arg285a/c.853A > T

rs77403558

chr19

1043395

1043395

A

T

0,1,1

0,0,0

 ABCB5

NM_001163941.1:p.Lys626a/c.1876A > T

rs76179099

chr7

20725325

20725325

A

T

0,1,1

0,0,0

 ABCB5

NM_001163941.1:p.Gln1195a/c.3583C > T

rs146527949

chr7

20795056

20795056

C

T

0,1,1

0,0,0

 ABCC3

NM_003786.3:p.Gln132a/c.394C > T

rs201830141

chr17

48734452

48734452

C

T

0,1,1

0,0,0

 ACAD11

NM_032169.4:p.Glu13a/c.37G > T

rs151048899

chr3

132378559

132378559

C

A

0,1,1

0,0,0

 ACOXL

NM_001142807.1:p.Gly577a/c.1729G > T

rs189429375

chr2

111875379

111875379

G

T

0,1,1

0,0,0

 ACTN2

NM_001103.3:p.Glu120a/c.358G > T

 

chr1

236882310

236882310

G

T

0,1,1

0,0,0

 ADAMTS14

NM_139155.2:p.Arg317a/c.949C > T

rs199886417

chr10

72489128

72489128

C

T

0,1,1

0,0,0

 AHCTF1

NM_015446.4:p.Ser1120a/c.3359C > A

 

chr1

247030561

247030561

G

T

0,1,1

0,0,0

 ALDH3B1

NM_000694.3:p.Trp135a/c.405G > A

rs375063489

chr11

67786650

67786650

G

A

0,1,1

0,0,0

 ANGPTL7

NM_021146.3:p.Trp188a/c.563G > A

rs145750805

chr1

11253722

11253722

G

A

0,1,1

0,0,0

 ANKRD65

NM_001243535.1:p.Trp108a/c.323G > A

 

chr1

1354816

1354816

C

T

0,1,1

0,0,0

 AP3B1

NM_003664.4:p.Arg407a/c.1219C > T

 

chr5

77461445

77461445

G

A

0,1,1

0,0,0

 AP5Z1

NM_014855.2:p.Trp441a/c.1322G > A

rs373919408

chr7

4827275

4827275

G

A

0,1,1

0,0,0

 ATP2C2

NM_001286527.2:p.Tyr106a/c.318C > G

 

chr16

84438841

84438841

C

G

0,1,1

0,0,0

 AZU1

NM_001700.3:p.Arg236a/c.706C > T

rs112572343

chr19

831827

831827

C

T

0,1,1

0,0,0

 BCL2L12

NM_138639.1:p.Tyr44a/c.132 T > G

rs141156787

chr19

50169212

50169212

T

G

0,1,1

0,0,0

 BCLAF1

NM_014739.2:p.Arg298a/c.892C > T

rs138333275

chr6

136599127

136599127

G

A

0,1,1

0,0,0

 BPIFB6

NM_174897.2:p.Tyr434a/c.1302C > A

rs140595029

chr20

31631146

31631146

C

A

0,1,1

0,0,0

 C12orf40

NM_001031748.2:p.Gln568a/c.1702C > T

rs140530325

chr12

40114796

40114796

C

T

0,1,1

0,0,0

 C12orf42

NM_001099336.2:p.Glu13a/c.37G > T

rs202081871

chr12

103872168

103872168

C

A

0,1,1

0,0,0

 C12orf56

NM_001170633.1:p.Lys269a/c.805A > T

rs201295265

chr12

64712444

64712444

T

A

0,1,1

0,0,0

 C15orf32

NM_153040.2:p.Lys30a/c.88A > T

rs115999940

chr15

93015466

93015466

A

T

0,1,1

0,0,0

 C18orf54

NM_001288980.1:p.Ser530a/c.1589C > A

rs148065410

chr18

51904603

51904603

C

A

0,1,1

0,0,0

 C20orf173

NM_001145350.1:p.Arg36a/c.106C > T

rs141795719

chr20

34117097

34117097

G

A

0,1,1

0,0,0

 C20orf78

NM_001242671.1:p.Trp115a/c.345G > A

rs146528664

chr20

18790531

18790531

C

T

0,1,1

0,0,0

 C9orf50

NM_199350.3:p.Gln406a/c.1216C > T

rs374957154

chr9

132374706

132374706

G

A

0,1,1

0,0,0

 CACNA1A

NM_023035.2:p.Arg1918a/c.5752C > T

rs16044

chr19

13325415

13325415

G

A

0,1,1

0,0,0

 CAMK4

NM_001744.4:p.Glu439a/c.1315G > T

 

chr5

110820057

110820057

G

T

0,1,1

0,0,0

 CAPN11

NM_007058.3:p.Gln133a/c.397C > T

rs189429774

chr6

44137700

44137700

C

T

0,1,1

0,0,0

 CARD6

NM_032587.3:p.Leu560a/c.1679 T > G

rs150487186

chr5

40853113

40853113

T

G

0,1,1

0,0,0

 CCDC153

NM_001145018.1:p.Arg42a/c.124C > T

rs77842401

chr11

119065645

119065645

G

A

0,1,1

0,0,0

 CCDC168

NM_001146197.1:p.Tyr6396a/c.19188 T > G

rs73587211

chr13

103383859

103383859

A

C

0,1,1

0,0,0

 CCDC3

NM_031455.3:p.Ser188a/c.563C > A

rs150029612

chr10

12940666

12940666

G

T

0,1,1

0,0,0

 CCDC57

NM_198082.2:p.Arg676a/c.2026C > T

rs201336748

chr17

80121090

80121090

G

A

0,1,1

0,0,0

 CCDC60

NM_178499.3:p.Arg520a/c.1558C > T

rs78597191

chr12

119978425

119978425

C

T

0,1,1

0,0,0

 CCT8L2

NM_014406.4:p.Trp320a/c.959G > A

rs144853652

chr22

17072482

17072482

C

T

0,1,1

0,0,0

 CD1A

NM_001763.2:p.Arg249a/c.745C > T

rs149659983

chr1

158226716

158226716

C

T

0,1,1

0,0,0

 CEP135

NM_025009.4:p.Gln824a/c.2470C > T

 

chr4

56876034

56876034

C

T

0,1,1

0,0,0

 CETP

NM_000078.2:p.Glu133a/c.397G > T

 

chr16

57003551

57003551

G

T

0,1,1

0,0,0

 CFHR4

NM_001201550.2:p.Arg41a/c.121A > T

rs199547603

chr1

196871610

196871610

A

T

0,1,1

0,0,0

 CHD1L

NM_004284.4:p.Arg611a/c.1831C > T

 

chr1

146756149

146756149

C

T

0,1,1

0,0,0

 CLEC2A

NM_001130711.1:p.Trp137a/c.411G > A

rs142033208

chr12

10066279

10066279

C

T

0,1,1

0,0,0

 CLEC4A

NM_016184.3:p.Trp176a/c.528G > A

rs115176426

chr12

8289461

8289461

G

A

0,1,1

0,0,0

 COL6A5

NM_001278298.1:p.Gln1184a/c.3550C > T

rs115380050

chr3

130114290

130114290

C

T

0,1,1

0,0,0

 CPA3

NM_001870.2:p.Arg178a/c.532C > T

rs145845146

chr3

148597632

148597632

C

T

0,1,1

0,0,0

 CPA6

NM_020361.4:p.Arg311a/c.931C > T

rs139145929

chr8

68346383

68346383

G

A

0,1,1

0,0,0

 CPO

NM_173077.2:p.Trp102a/c.305G > A

rs138166151

chr2

207823062

207823062

G

A

0,1,1

0,0,0

 CTSV

NM_001201575.1:p.Arg96a/c.286C > T

 

chr9

99799644

99799644

G

A

0,1,1

0,0,0

 CYP1A2

NM_000761.4:p.Tyr495a/c.1485C > A

rs143193369

chr15

75047363

75047363

C

A

0,1,1

0,0,0

 DACT2

NM_001286351.1:p.Ser264a/c.791C > G

 

chr6

168694817

168694817

G

C

0,1,1

0,0,0

 DCDC5

NM_020869.3:p.Arg864a/c.2590C > T

rs200380430

chr11

30900214

30900214

G

A

0,1,1

0,0,0

 DCHS2

NM_017639.3:p.Arg1343a/c.4027C > T

rs150179829

chr4

155226252

155226252

G

A

0,1,1

0,0,0

 DEFB1

NM_005218.3:c.111C>A

rs5743490

chr8

6728299

6728299

G

T

0,1,1

0,0,0

 DLEC1

NM_007337.2:p.Cys1696a/c.5088C > A

rs201487599

chr3

38163847

38163847

C

A

0,1,1

0,0,0

 DNAH10

NM_207437.3:p.Arg3898a/c.11692C > T

 

chr12

124411308

124411308

C

T

0,1,1

0,0,0

 DNAH14

NM_001373.1:p.Glu19a/c.55G > T

rs61745064

chr1

225140459

225140459

G

T

0,1,1

0,0,0

 DRD4

NM_000797.3:p.Glu62a/c.184G > T

 

chr11

637488

637488

G

T

0,1,1

0,0,0

 DTHD1

NM_001170700.2:p.Trp678a/c.2034G > A

rs149895631

chr4

36345134

36345134

G

A

0,1,1

0,0,0

 EBLN2

NM_018029.3:p.Tyr164a/c.492 T > G

rs2231925

chr3

73111724

73111724

T

G

0,1,1

0,0,0

 ECHDC2

NM_001198961.1:p.Trp11a/c.33G > A

rs368731634

chr1

53387313

53387313

C

T

0,1,1

0,0,0

 EDDM3A

NM_006683.4:p.Arg43a/c.127C > T

rs138978934

chr14

21215866

21215866

C

T

0,1,1

0,0,0

 EFCAB13

NM_152347.4:p.Arg236a/c.706C > T

rs78865644

chr17

45438788

45438788

C

T

0,1,1

0,0,0

 EFCAB13

NM_152347.4:p.Lys433a/c.1297A > T

rs74969489

chr17

45452257

45452257

A

T

0,1,1

0,0,0

 EGF

NM_001963.4:p.Gln1095a/c.3283C > T

rs138244768

chr4

110925770

110925770

C

T

0,1,1

0,0,0

 EIF3J

NM_003758.3:p.Glu192a/c.574G > T

 

chr15

44852449

44852449

G

T

0,1,1

0,0,0

 ELOVL5

NM_001242830.1:p.Gly246a/c.736G > T

rs41273878

chr6

53133964

53133964

C

A

0,1,1

0,0,0

 ELOVL5

NM_001242828.1:p.Gln102a/c.304C > T

rs150583340

chr6

53152683

53152683

G

A

0,1,1

0,0,0

 ELP4

NM_001288725.1:p.Gln385a/c.1153C > T

 

chr11

31784965

31784965

C

T

0,1,1

0,0,0

 ENGASE

NM_001042573.2:p.Arg352a/c.1054C > T

rs149186913

chr17

77079117

77079117

C

T

0,1,1

0,0,0

 EOGT

NM_001278689.1:p.Lys188a/c.562A > T

rs116711473

chr3

69053587

69053587

T

A

0,1,1

0,0,0

 EPB41L4A

NM_022140.3:p.Arg348a/c.1042C > T

rs368151776

chr5

111570376

111570376

G

A

0,1,1

0,0,0

 EVC2

NM_147127.4:p.Lys342a/c.1024A > T

 

chr4

5664955

5664955

T

A

0,1,1

0,0,0

 EVPL

NM_001988.2:p.Gln938a/c.2812C > T

rs151046085

chr17

74006474

74006474

G

A

0,1,1

0,0,0

 EVPLL

NM_001145127.1:p.Trp209a/c.627G > A

rs182498101

chr17

18286454

18286454

G

A

0,1,1

0,0,0

 EYS

NM_001292009.1:p.Trp2090a/c.6270G > A

 

chr6

64940639

64940639

C

T

0,1,1

0,0,0

 FAM179A

NM_199280.2:p.Arg162a/c.484C > T

rs183676260

chr2

29225458

29225458

C

T

0,1,1

0,0,0

 FAM187B

NM_152481.1:p.Trp231a/c.693G > A

rs35001809

chr19

35718891

35718891

C

T

0,1,1

0,0,0

 FAM200A

NM_145111.3:p.Leu61a/c.182 T > G

 

chr7

99145849

99145849

A

C

0,1,1

0,0,0

 FAM227B

NM_152647.2:p.Arg5a/c.13C > T

rs140471517

chr15

49907356

49907356

G

A

0,1,1

0,0,0

 FAM60A

NM_001135811.1:p.Ser70a/c.209C > A

 

chr12

31448187

31448187

G

T

0,1,1

0,0,0

 FASTKD1

NM_024622.4:p.Ser768a/c.2303C > G

rs34291832

chr2

170387886

170387886

G

C

0,1,1

0,0,0

 FBXL21

NM_012159.4:p.Trp72a/c.215G > A

rs148275750

chr5

135272498

135272498

G

A

0,1,1

0,0,0

 FBXO48

NM_001024680.1:p.Glu134a/c.400G > T

rs148116960

chr2

68691409

68691409

C

A

0,1,1

0,0,0

 FCRL6

NM_001004310.2:p.Gln406a/c.1216C > T

 

chr1

159785362

159785362

C

T

0,1,1

0,0,0

 FDXR

NM_001258013.2:p.Gln66a/c.196C > T

rs187001043

chr17

72868325

72868325

G

A

0,1,1

0,0,0

 FMO1

NM_001282692.1:p.Arg506a/c.1516C > T

rs60639054

chr1

171254588

171254588

C

T

0,1,1

0,0,0

 FREM3

NM_001168235.1:p.Gln166a/c.496C > T

 

chr4

144621333

144621333

G

A

0,1,1

0,0,0

 FTCD

NM_006657.2:p.Arg71a/c.211C > T

rs8133955

chr21

47574090

47574090

G

A

0,1,1

0,0,0

 FXYD3

NM_001136007.1:p.Arg45a/c.133C > T

 

chr19

35610131

35610131

C

T

0,1,1

0,0,0

 GAL3ST4

NM_024637.4:p.Trp289a/c.867G > A

rs147809354

chr7

99758145

99758145

C

T

0,1,1

0,0,0

 GCAT

NM_001171690.1:p.Trp2a/c.5G > A

rs202183602

chr22

38203979

38203979

G

A

0,1,1

0,0,0

 GNB3

NM_002075.3:p.Lys89a/c.265A > T

 

chr12

6952399

6952399

A

T

0,1,1

0,0,0

 GP6

NM_001083899.2:p.Trp429a/c.1287G > A

rs74697203

chr19

55526026

55526026

C

T

0,1,1

0,0,0

 GPR148

NM_207364.2:p.Arg81a/c.241C > T

rs140681574

chr2

131486965

131486965

C

T

0,1,1

0,0,0

 GSG1

NM_001080555.2:p.Arg160a/c.478A > T

 

chr12

13241799

13241799

T

A

0,1,1

0,0,0

 GTDC1

NM_001284238.1:p.Trp9a/c.26G > A

rs145066970

chr2

144934759

144934759

C

T

0,1,1

0,0,0

 GUCA1C

NM_005459.3:p.Glu18a/c.52G > T

rs143174402

chr3

108672558

108672558

C

A

0,1,1

0,0,0

 HEPHL1

NM_001098672.1:p.Trp96a/c.288G > A

 

chr11

93778956

93778956

G

A

0,1,1

0,0,0

 HERC6

NM_017912.3:p.Gln1021a/c.3061C > T

rs4413373

chr4

89363604

89363604

C

T

0,1,1

0,0,0

 HIST1H1T

NM_005323.3:p.Arg168a/c.502A > T

rs35191055

chr6

26107820

26107820

T

A

0,1,1

0,0,0

 HKDC1

NM_025130.3:p.Trp721a/c.2163G > A

rs147565138

chr10

71018662

71018662

G

A

0,1,1

0,0,0

 HMCN2

NM_001291815.1:p.Arg3622a/c.10864C > T

 

chr9

133281539

133281539

C

T

0,1,1

0,0,0

 HRG

NM_000412.3:p.Glu294a/c.880G > T

rs140336956

chr3

186394974

186394974

G

T

0,1,1

0,0,0

 HSD17B14

NM_016246.2:p.Arg79a/c.235C > T

rs139341223

chr19

49335965

49335965

G

A

0,1,1

0,0,0

 IQCE

NM_001287499.1:p.Ser366a/c.1097C > A

rs367705543

chr7

2629593

2629593

C

A

0,1,1

0,0,0

 ITGA10

NM_003637.3:p.Arg313a/c.937C > T

 

chr1

145532484

145532484

C

T

0,1,1

0,0,0

 JMJD7-PLA2G4B

NM_005090.3:p.Arg486a/c.1456C > T

rs199962342

chr15

42135893

42135893

C

T

0,1,1

0,0,0

 KCNJ16

NM_001291622.1:p.Gly168a/c.502G > T

 

chr17

68128625

68128625

G

T

0,1,1

0,0,0

 KCNJ16

NM_001291622.1:p.Arg337a/c.1009C > T

rs142625269

chr17

68129132

68129132

C

T

0,1,1

0,0,0

 KCNJ18

NM_001194958.2:p.Arg399a/c.1195C > T

rs144702327

chr17

21319849

21319849

C

T

0,1,1

0,0,0

 KCNU1

NM_001031836.2:p.Trp768a/c.2303G > A

 

chr8

36767025

36767025

G

A

0,1,1

0,0,0

 KIAA0319L

NM_024874.4:p.Arg1019a/c.3055C > T

 

chr1

35900590

35900590

G

A

0,1,1

0,0,0

 KIAA0753

NM_014804.2:p.Gln896a/c.2686C > T

rs149782904

chr17

6493199

6493199

G

A

0,1,1

0,0,0

 KIF27

NM_017576.2:p.Arg1336a/c.4006C > T

rs371473677

chr9

86452116

86452116

G

A

0,1,1

0,0,0

 KLHDC7A

NM_152375.2:p.Gln252a/c.754C > T

rs115859684

chr1

18808229

18808229

C

T

0,1,1

0,0,0

 KLHDC9

NM_152366.4:p.Trp223a/c.669G > A

rs150493322

chr1

161069277

161069277

G

A

0,1,1

0,0,0

 KLHL33

NM_001109997.2:p.Arg230a/c.688C > T

 

chr14

20898147

20898147

G

A

0,1,1

0,0,0

 KLK4

NM_004917.3:p.Trp153a/c.458G > A

rs104894704

chr19

51411852

51411852

C

T

0,1,1

0,0,0

 KLRF1

NM_016523.2:p.Trp128a/c.383G > A

 

chr12

9994456

9994456

G

A

0,1,1

0,0,0

 LFNG

NM_001166355.1:p.Ser27a/c.80C > A

rs372947239

chr7

2552823

2552823

C

A

0,1,1

0,0,0

 LHX4

NM_033343.3:p.Gln29a/c.85C > T

 

chr1

180217428

180217428

C

T

0,1,1

0,0,0

 LILRB2

NM_005874.4:p.Glu161a/c.481G > T

rs370409653

chr19

54783377

54783377

C

A

0,1,1

0,0,0

 LTBP4

NM_001042544.1:p.Trp1176a/c.3527G > A

rs35079932

chr19

41128415

41128415

G

A

0,1,1

0,0,0

 LY9

NM_002348.3:p.Arg478a/c.1432C > T

rs145664274

chr1

160788097

160788097

C

T

0,1,1

0,0,0

 MAFA

NM_201589.3:p.Lys346a/c.1036A > T

 

chr8

144511541

144511541

T

A

0,1,1

0,0,0

 MALRD1

NM_001142308.2:p.Gln888a/c.2662C > T

 

chr10

19498280

19498280

C

T

0,1,1

0,0,0

 MARK1

NM_001286124.1:p.Arg548a/c.1642C > T

 

chr1

220825398

220825398

C

T

0,1,1

0,0,0

 MBL2

NM_000242.2:p.Glu210ac.628G > T

rs74754826

chr10

54528016

54528016

C

A

0,1,1

0,0,0

 MCEMP1

NM_174918.2:p.Gln183a/c.547C > T

rs113286748

chr19

7743869

7743869

C

T

0,1,1

0,0,0

 MDM1

NM_017440.4:p.Arg643a/c.1927C > T

rs147627177

chr12

68696445

68696445

G

A

0,1,1

0,0,0

 MDN1

NM_014611.2:p.Glu4974a/c.14920G > T

 

chr6

90368430

90368430

C

A

0,1,1

0,0,0

 METTL2A

NM_181725.3:p.Arg291a/c.871C > T

rs147656413

chr17

60522259

60522259

C

T

0,1,1

0,0,0

 MGAT4D

NM_001277353.1:p.Lys372a/c.1114A > T

 

chr4

141372566

141372566

T

A

0,1,1

0,0,0

 MIB1

NM_020774.3:p.Gln219a/c.655C > T

 

chr18

19358082

19358082

C

T

0,1,1

0,0,0

 MIB2

NM_001170689.1:p.Gln739a/c.2215C > T

rs146481628

chr1

1565047

1565047

C

T

0,1,1

0,0,0

 MLANA

NM_005511.1:p.Arg51a/c.151C > T

 

chr9

5897630

5897630

C

T

0,1,1

0,0,0

 MLF1

NM_001195432.1:p.Arg194a/c.580C > T

 

chr3

158317881

158317881

C

T

0,1,1

0,0,0

 MROH2A

NM_001287395.1:p.Gln944a/c.2830C > T

 

chr2

234723288

234723288

C

T

0,1,1

0,0,0

 MST1R

NM_002447.2:p.Gln690a/c.2068C > T

rs61734381

chr3

49934828

49934828

G

A

0,1,1

0,0,0

 MST1R

NM_002447.2:p.Lys621a/c.1861A > T

rs9819888

chr3

49935503

49935503

T

A

0,1,1

0,0,0

 MUC12

NM_001164462.1:p.Arg171a/c.511C > T

 

chr7

100634355

100634355

C

T

0,1,1

0,0,0

 MUC19

NM_173600.2:p.Arg7595a/c.22783C > T

rs183548726

chr12

40938465

40938465

C

T

0,1,1

0,0,0

 MYOM3

NM_152372.3:p.Arg513a/c.1537C > T

 

chr1

24416105

24416105

G

A

0,1,1

0,0,0

 NARR

NM_001256281.1:p.Gln177a/c.529C > T

rs140500150

chr17

27043980

27043980

G

A

0,1,1

0,0,0

 NCOA1

NM_003743.4:p.Arg1122a/c.3364C > T

 

chr2

24964713

24964713

C

T

0,1,1

0,0,0

 NGB

NM_021257.3:p.Gln11a/c.31C > T

 

chr14

77737250

77737250

G

A

0,1,1

0,0,0

 NIPSNAP3A

NM_015469.1:p.Arg96a/c.286C > T

rs34856872

chr9

107515201

107515201

C

T

0,1,1

0,0,0

 NKX1–2

NM_001146340.1:p.Trp4a/c.12G > A

 

chr10

126138501

126138501

C

T

0,1,1

0,0,0

 NLRP12

NM_001277126.1:p.Arg1017a/c.3049C > T

rs35064500

chr19

54299165

54299165

G

A

0,1,1

0,0,0

 NME3

NM_002513.2:p.Trp159a/c.477G > A

rs140703991

chr16

1820683

1820683

C

T

0,1,1

0,0,0

 NUDT7

NM_001105663.2:p.Glu8a/c.22G > T

rs182579196

chr16

77756501

77756501

G

T

0,1,1

0,0,0

 OAS1

NM_001032409.1:p.Arg73a/c.217C > T

rs147431531

chr12

113346377

113346377

C

T

0,1,1

0,0,0

 OR10K1

NM_001004473.1:p.Tyr259a/c.777C > A

rs143219550

chr1

158436128

158436128

C

A

0,1,1

0,0,0

 OR10R2

NM_001004472.1:p.Lys73a/c.217A > T

 

chr1

158449884

158449884

A

T

0,1,1

0,0,0

 OR1G1

NM_003555.1:p.Ser95a/c.284C > G

 

chr17

3030562

3030562

G

C

0,1,1

0,0,0

 OR2M4

NM_017504.1:p.Arg223a/c.667C > T

rs143728385

chr1

248402897

248402897

C

T

0,1,1

0,0,0

 OR4M2

NM_001004719.2:p.Tyr177a/c.531C > G

rs148183880

chr15

22369106

22369106

C

G

0,1,1

0,0,0

 OR5A1

NM_001004728.1:p.Arg125a/c.373C > T

rs150073749

chr11

59211014

59211014

C

T

0,1,1

0,0,0

 OR5M11

NM_001005245.1:p.Tyr126a/c.378 T > A

rs17547284

chr11

56310356

56310356

A

T

0,1,1

0,0,0

 OR8I2

NM_001003750.1:p.Tyr289a/c.867C > G

rs61887097

chr11

55861650

55861650

C

G

0,1,1

0,0,0

 OR8U8

NM_001013356.2:p.Trp270a/c.810G > A

rs140673261

chr11

56143919

56143919

G

A

0,1,1

0,0,0

 P2RY4

NM_002565.3:p.Trp348a/c.1043G > A

rs41310667

chrX

69478432

69478432

C

T

0,1,1

0,0,0

 PADI2

NM_007365.2:p.Gln340a/c.1018C > T

rs142403504

chr1

17410253

17410253

G

A

0,1,1

0,0,0

 PCDHGA10

NM_018913.2:p.Tyr331a/c.993 T > G

 

chr5

140793735

140793735

T

G

0,1,1

0,0,0

 PCOLCE2

NM_013363.3:p.Arg204a/c.610C > T

rs143280691

chr3

142557712

142557712

G

A

0,1,1

0,0,0

 PCSK6

NM_002570.4:p.Arg413a/c.1237C > T

rs77239269

chr15

101929740

101929740

G

A

0,1,1

0,0,0

 PCSK9

NM_174936.3:p.Cys679a/c.2037C > A

rs28362286

chr1

55529215

55529215

C

A

0,1,1

0,0,0

 PDE5A

NM_001083.3:p.Gln860a/c.2578C > T

rs140289122

chr4

120419806

120419806

G

A

0,1,1

0,0,0

 PDIA6

NM_001282705.1:p.Arg13a/c.37C > T

 

chr2

10977695

10977695

G

A

0,1,1

0,0,0

 PEG3

NM_001146184.1:p.Trp16a/c.48G > A

 

chr19

57335976

57335976

C

T

0,1,1

0,0,0

 PEG3

NM_001146184.1:p.Lys14a/c.40A > T

 

chr19

57335984

57335984

T

A

0,1,1

0,0,0

 PEX7

NM_000288.3:p.Leu292a/c.875 T > A

rs1805137

chr6

137219351

137219351

T

A

0,1,1

0,0,0

 PIF1

NM_001286497.1:p.Glu49a/c.145G > T

rs75683534

chr15

65116390

65116390

C

A

0,1,1

0,0,0

 PLA2R1

NM_007366.4:p.Cys1377a/c.4131 T > A

rs145354671

chr2

160801430

160801430

A

T

0,1,1

0,0,0

 PLCD4

NM_032726.3:p.Arg117a/c.349C > T

rs146112514

chr2

219483469

219483469

C

T

0,1,1

0,0,0

 PLCL2

NM_001144382.1:p.Arg1115a/c.3343C > T

rs149144281

chr3

17131374

17131374

C

T

0,1,1

0,0,0

 POLR3B

NM_018082.5:p.Glu374a/c.1120G > T

 

chr12

106820993

106820993

G

T

0,1,1

0,0,0

 PROSER3

NM_001039887.2:p.Arg439a/c.1315C > T

rs375920305

chr19

36259319

36259319

C

T

0,1,1

0,0,0

 PRSS41

NM_001135086.1:p.Gln69a/c.205C > T

 

chr16

2849034

2849034

C

T

0,1,1

0,0,0

 PSME1

NM_176783.2:p.Gln229a/c.685C > T

rs370880151

chr14

24607785

24607785

C

T

0,1,1

0,0,0

 PSRC1

NM_001005290.3:p.Lys249a/c.745A > T

rs116389032

chr1

109823457

109823457

T

A

0,1,1

0,0,0

 PTBP3

NM_001244898.1:p.Arg56a/c.166C > T

rs143872137

chr9

115038264

115038264

G

A

0,1,1

0,0,0

 PTGDR

NM_000953.2:p.Trp48a/c.143G > A

rs41533946

chr14

52734675

52734675

G

A

0,1,1

0,0,0

 PXDNL

NM_144651.4:p.Cys1258a/c.3774 T > A

rs117752382

chr8

52284560

52284560

A

T

0,1,1

0,0,0

 PZP

NM_002864.2:p.Gln1168a/c.3502C > T

rs143616823

chr12

9309819

9309819

G

A

0,1,1

0,0,0

 RABEP1

NM_004703.5:p.Arg270a/c.808C > T

 

chr17

5253769

5253769

C

T

0,1,1

0,0,0

 RABEPK

NM_001174152.1:p.Arg113a/c.337C > T

rs199553121

chr9

127975774

127975774

C

T

0,1,1

0,0,0

 RGS11

NM_183337.2:p.Arg133a/c.397C > T

rs149201684

chr16

324075

324075

G

A

0,1,1

0,0,0

 RNF133

NM_139175.1:p.Arg240a/c.718C > T

rs141697772

chr7

122338255

122338255

G

A

0,1,1

0,0,0

 RNPC3

NM_017619.3:p.Gln185a/c.553C > T

 

chr1

104078061

104078061

C

T

0,1,1

0,0,0

 RPGRIP1

NM_020366.3:p.Arg52a/c.154C > T

rs192003551

chr14

21762904

21762904

C

T

0,1,1

0,0,0

 RPTN

NM_001122965.1:p.Arg771a/c.2311C > T

rs192865821

chr1

152127264

152127264

G

A

0,1,1

0,0,0

 SCAND1

NM_033630.2:p.Trp43a/c.128G > A

 

chr20

34542376

34542376

C

T

0,1,1

0,0,0

 SCD5

NM_024906.2:p.Gln192a/c.574C > T

 

chr4

83582226

83582226

G

A

0,1,1

0,0,0

 SCUBE2

NM_001170690.1:p.Cys548a/c.1644C > A

 

chr11

9055237

9055237

G

T

0,1,1

0,0,0

 SDSL

NM_138432.2:p.Leu280a/c.839 T > G

 

chr12

113875733

113875733

T

G

0,1,1

0,0,0

 SFTPD

NM_003019.4:p.Gln80a/c.238C > T

rs79085361

chr10

81702597

81702597

G

A

0,1,1

0,0,0

 SLC16A4

NM_004696.2:p.Trp482a/c.1446G > A

rs114581294

chr1

110906406

110906406

C

T

0,1,1

0,0,0

 SLC22A11

NM_018484.2:p.Arg48a/c.142C > T

rs35008345

chr11

64323613

64323613

C

T

0,1,1

0,0,0

 SLC22A24

NM_001136506.2:p.Arg347a/c.1039C > T

rs374095536

chr11

62863494

62863494

G

A

0,1,1

0,0,0

 SLC2A5

NM_003039.2:p.Ser291a/c.872C > A

 

chr1

9099872

9099872

G

T

0,1,1

0,0,0

 SLC5A8

NM_145913.3:p.Lys183a/c.547A > T

 

chr12

101587548

101587548

T

A

0,1,1

0,0,0

 SLC6A18

NM_182632.2:p.Gln249a/c.745C > T

rs200802505

chr5

1239577

1239577

C

T

0,1,1

0,0,0

 SPATA24

NM_194296.1:p.Gln185a/c.553C > T

rs183526939

chr5

138732554

138732554

G

A

0,1,1

0,0,0

 SPERT

NM_152719.2:p.Trp135a/c.405G > A

 

chr13

46287565

46287565

G

A

0,1,1

0,0,0

 SSPO

NM_198455.2:p.Gln2048a/c.6142C > T

rs200402989

chr7

149491941

149491941

C

T

0,1,1

0,0,0

 STMND1

NM_001190766.1:p.Gln60a/c.178C > T

rs146229126

chr6

17115289

17115289

C

T

0,1,1

0,0,0

 TAS2R19

NM_176888.1:p.Arg39a/c.115C > T

rs146593308

chr12

11175056

11175056

G

A

0,1,1

0,0,0

 TAS2R20

NM_176889.2:p.Trp35a/c.104G > A

rs116400924

chr12

11150371

11150371

C

T

0,1,1

0,0,0

 TMEM150B

NM_001085488.2:p.Cys45a/c.135C > A

 

chr19

55831820

55831820

G

T

0,1,1

0,0,0

 TMEM70

NM_017866.5:p.Arg80a/c.238C > T

rs387907070

chr8

74891018

74891018

C

T

0,1,1

0,0,0

 TMX4

NM_021156.2:p.Gln69a/c.205C > T

rs373356438

chr20

7990934

7990934

G

A

0,1,1

0,0,0

 TOR1AIP1

NM_001267578.1:p.Ser50a/c.149C > A

 

chr1

179851786

179851786

C

A

0,1,1

0,0,0

 TREX2

NM_080701.3:p.Arg87a/c.259C > T

rs141078733

chrX

152710630

152710630

G

A

0,1,1

0,0,0

 TRIOBP

NM_001039141.2:p.Arg1025a/c.3073C > T

 

chr22

38121636

38121636

C

T

0,1,1

0,0,0

 TSPAN19

NM_001100917.1:p.Gly19a/c.55G > T

rs188656791

chr12

85423670

85423670

C

A

0,1,1

0,0,0

 TTC22

NM_017904.3:p.Arg342a/c.1024C > T

rs2270002

chr1

55251314

55251314

G

A

0,1,1

0,0,0

 TTC25

NM_031421.3:p.Glu602a/c.1804G > T

rs375330943

chr17

40117478

40117478

G

T

0,1,1

0,0,0

 TTLL3

NM_001025930.3:p.Arg704a/c.2110C > T

rs115917139

chr3

9874914

9874914

C

T

0,1,1

0,0,0

 UBAP1L

NM_001163692.1:p.Glu34a/c.100G > T

 

chr15

65398454

65398454

C

A

0,1,1

0,0,0

 UGT1A7

NM_019077.2:p.Tyr81a/c.243C > A

rs149618508

chr2

234590826

234590826

C

A

0,1,1

0,0,0

 UGT2A1

NM_001252274.2:p.Tyr192a/c.576 T > A

rs111696697

chr4

70512787

70512787

A

T

0,1,1

0,0,0

 UMODL1

NM_173568.3:p.Trp1379a/c.4136G > A

rs376098587

chr21

43549884

43549884

G

A

0,1,1

0,0,0

 UPK3A

NM_006953.3:p.Ser87a/c.260C > A

rs138918236

chr22

45683104

45683104

C

A

0,1,1

0,0,0

 UTS2B

NM_198152.3:p.Arg111a/c.331C > T

rs16866426

chr3

190993044

190993044

G

A

0,1,1

0,0,0

 VSIG10L

NM_001163922.1:p.Gly340a/c.1018G > T

 

chr19

51843858

51843858

C

A

0,1,1

0,0,0

 VWCE

NM_152718.2:p.Gln866a/c.2596C > T

rs61729958

chr11

61026419

61026419

G

A

0,1,1

0,0,0

 WDR33

NM_001006622.2:p.Trp265a/c.794G > A

 

chr2

128522234

128522234

C

T

0,1,1

0,0,0

 WDR49

NM_178824.3:p.Ser330a/c.989C > A

 

chr3

167250675

167250675

G

T

0,1,1

0,0,0

 WRN

NM_000553.4:p.Arg369a/c.1105C > T

rs17847577

chr8

30938648

30938648

C

T

0,1,1

0,0,0

 ZBED6CL

NM_138434.2:p.Gln29a/c.85C > T

rs73474332

chr7

150027578

150027578

C

T

0,1,1

0,0,0

 ZIM3

NM_052882.1:p.Lys438a/c.1312A > T

rs111350153

chr19

57646393

57646393

T

A

0,1,1

0,0,0

 ZNF107

NM_001282359.1:p.Ser181a/c.542C > G

rs200723270

chr7

64167017

64167017

C

G

0,1,1

0,0,0

 ZNF135

NM_007134.1:p.Glu221a/c.661G > T

rs148932599

chr19

58578441

58578441

G

T

0,1,1

0,0,0

 ZNF154

NM_001085384.2:p.Arg192a/c.574C > T

rs74939505

chr19

58213743

58213743

G

A

0,1,1

0,0,0

 ZNF200

NM_003454.3:p.Arg392a/c.1174C > T

rs138531369

chr16

3273906

3273906

G

A

0,1,1

0,0,0

 ZNF211

NM_001265597.1:p.Tyr602a/c.1806 T > A

rs146505315

chr19

58153465

58153465

T

A

0,1,1

0,0,0

 ZNF665

NM_024733.3:p.Gln154a/c.460C > T

rs74974920

chr19

53669283

53669283

G

A

0,1,1

0,0,0

 ZNF718

NM_001289930.1:p.Gln278a/c.832C > T

rs116083456

chr4

155530

155530

C

T

0,1,1

0,0,0

 ZNF781

NM_152605.3:p.Arg53a/c.157C > T

rs140682866

chr19

38160893

38160893

G

A

0,1,1

0,0,0

 ZSCAN9

NM_001199479.1:p.Arg193a/c.577C > T

rs76542212

chr6

28198122

28198122

C

T

0,1,1

0,0,0

More than one allele in PPROM Cohort

 ABCB5

NM_001163941.1:p.Arg353a/c.1057C > T

rs150279505

chr7

20687233

20687233

C

T

0,2,2

0,0,0

 ACSM3

NM_005622.3:p.Trp292a/c.875G > A

rs52817836

chr16

20792388

20792388

G

A

0,2,2

0,0,0

 ALPK1

NM_001102406.1:p.Trp595a/c.1785G > A

rs116802171

chr4

113352488

113352488

G

A

0,2,2

0,0,0

 AMZ1

NM_001284355.1:p.Arg292a/c.874C > T

rs55919423

chr7

2752059

2752059

C

T

0,4,4

0,0,0

 AOAH

NM_001177506.1:p.Gln556a/c.1666C > T

rs145455591

chr7

36554130

36554130

G

A

0,2,2

0,0,0

 C9orf129

NM_001098808.1:p.Gln170a/c.508C > T

rs115115786

chr9

96080763

96080763

G

A

0,3,3

0,0,0

 CLEC6A

NM_001007033.1:p.Ser200a/c.599C > A

rs114953954

chr12

8630029

8630029

C

A

0,2,2

0,0,0

 COL6A6

NM_001102608.1:p.Gly1434a/c.4300G > T

rs140872639

chr3

130311412

130311412

G

T

0,2,2

0,0,0

 COQ6

NM_182480.2:p.Trp14a/c.41G > A

rs17094161

chr14

74416836

74416836

G

A

0,6,6

0,0,0

 EFCAB5

NM_198529.3:p.Gln952a/c.2854C > T

rs73274829

chr17

28405349

28405349

C

T

0,2,2

0,0,0

 ERVMER34–1

NM_001242690.1:p.Trp68a/c.204G > A

rs61731313

chr4

53611484

53611484

C

T

0,2,2

0,0,0

 HSD17B13

NM_178135.4:p.Trp150a/c.450G > A

rs61748262

chr4

88238244

88238244

C

T

0,2,2

0,0,0

 HTR4

NM_001286410.1:p.Lys389a/c.1165A > T

rs58336229

chr5

147861104

147861104

T

A

0,2,2

0,0,0

 KCNMB3

NM_014407.3:p.Trp106a/c.317G > A

rs145138176

chr3

178962425

178962425

C

T

0,2,2

0,0,0

 KRT74

NM_175053.3:p.Gln285a/c.853C > T

rs147781415

chr12

52964608

52964608

G

A

0,2,2

0,0,0

 MAGEE2

NM_138703.4:p.Glu120a/c.358G > T

rs1343879

chrX

75004529

75004529

C

A

1,0,2

0,0,0

 MATK

NM_002378.3:p.Arg9a/c.25C > T

rs74830030

chr19

3789321

3789321

G

A

0,2,2

0,0,0

 METTL7B

NM_152637.2:p.Arg224a/c.670C > T

rs115687886

chr12

56077768

56077768

C

T

0,7,7

0,0,0

 MROH2B

NM_173489.4:p.Trp191a/c.572G > A

rs1023840

chr5

41061715

41061715

C

T

0,3,3

0,0,0

 MUC19

NM_173600.2:p.Gln8113a/c.24337C > T

rs75211948

chr12

40961512

40961512

C

T

0,3,3

0,0,0

 OPRM1

NM_001008503.2:p.Arg401a/c.1201C > T

rs34427887

chr6

154567863

154567863

C

T

0,2,2

0,0,0

 OR10Z1

NM_001004478.1:p.Tyr153a/c.459C > A

rs148998855

chr1

158576687

158576687

C

A

0,3,3

0,0,0

 OR6C6

NM_001005493.1:p.Leu200a/c.599 T > A

rs76796682

chr12

55688418

55688418

A

T

0,2,2

0,0,0

 PHF19

NM_001009936.2:p.Gln180a/c.538C > T

rs112858270

chr9

123632050

123632050

G

A

0,3,3

0,0,0

 PKD1L2

NM_052892.3:p.Trp1184a/c.3551G > A

rs147079883

chr16

81194437

81194437

C

T

1,1,3

0,0,0

 PLCXD2

NM_001185106.1:p.Trp292a/c.876G > A

rs77085054

chr3

111451475

111451475

G

A

0,2,2

0,0,0

 RNF212

NM_001193318.2:p.Gln188a/c.562C > T

rs60035268

chr4

1087487

1087487

G

A

0,4,4

0,0,0

 SLC10A5

NM_001010893.2:p.Leu201a/c.602 T > A

rs112999969

chr8

82606606

82606606

A

T

0,2,2

0,0,0

 TAS2R46

NM_176887.2:p.Gln288a/c.862C > T

rs150894148

chr12

11214032

11214032

G

A

0,2,2

0,0,0

 TCHHL1

NM_001008536.1:p.Gln294a/c.880C > T

rs61749316

chr1

152059278

152059278

G

A

0,4,4

0,0,0

 ULBP3

NM_024518.1:p.Glu110a/c.328G > T

rs34672740

chr6

150387059

150387059

C

A

0,2,2

0,0,0

 ZAN

NM_003386.2:p.Trp1883a/c.5649G > A

rs2293766

chr7

100371358

100371358

G

A

1,4,6

0,0,0

 ZNF486

NM_052852.3:p.Tyr210a/c.630C > G

rs184976796

chr19

20308149

20308149

C

G

0,2,2

0,0,0

 ZNF594

NM_032530.1:p.Glu684a/c.2050G > T

rs114754534

chr17

5085502

5085502

C

A

0,2,2

0,0,0

 ZP4

NM_021186.3:p.Arg252a/c.754C > T

 

chr1

238050156

238050156

G

T

0,2,2

0,0,0

  1. WES (50–100 X coverage) data were analyzed as described in (Modi et al., 2017a,b) to extract nonsense variants
  2. All nonsense variants were identified by WES and only selected variants were confirmed by Sanger sequencing
  3. Chr chromosome
  4. aAllele count: Homozygous, Heterozygous, Total Alleles