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Table 2 Rare and deleterious variants with MMAF < 0.01, CADD > 10, ODD Ratio > 1.5 shared by the five brothers with prostate cancer

From: Unravelling genetic variants of a swedish family with high risk of prostate cancer

Gene

Locationa

Ref/Alt

SNP-id

HGVS transcript

MMAFb

MAFc

CADDd

Position

Consequence

USH2A

chr1:216090029

T/C

Na

NM_206933.2:

c.7301-15782 A > G

4.53E-04

0

13.45

Transcript

Intronic

ESRRG

chr1:217149814

T/C

Na

NM_001350122.1:

c.-284-36799 A > G

9.07E-04

0.0025

14.77

Transcript

Intronic

RAB3GAP2

chr1:220332126

C/A

Na

NM_012414.3:

c.3261 + 602G > T

0

0

10.16

Transcript

Intronic

OBSCN

chr1:228395681

T/G

Na

NR_073154.1:

n.709-1330 A > C

0.007435

0.004004

11.34

Transcript

Upstream

UBE2E1

chr3:23847362

A/T

Na

NR_046652.1:

n.87 + 948T > A

0

0

15.69

Intergenic

Upstream

GBE1

chr3:81534434

C/A

rs139860257

NC_000003.11:

g.81,534,434 C > A

0.001879

0.0075

17.48

Transcript

Downstream

DLG1

chr3:196990566

G/C

rs111626925

NM_001204386.1:

c.318 + 18,984 C > G

1.15E-04

0

11.97

Transcript

Intronic

PPARGC1A

chr4:23981292

C/CG

Na

NM_001330751.1:

c.70-94739dup

0.001881

0.002

16.87

Transcript

Intronic

SGCB

chr4:52895932

G/A

rs150518260

NM_000232.4:

c.341 C > T

2.6E-04

5.00E-04

28

Coding Transcript

Non-synonymous

LRBA

chr4:151631987

C/T

Na

NM_001199282.2:

c.5754 + 24423G > A

0.001621

5.00E-04

12.08

Transcript

Intronic

FBXW7

chr4:153359554

G/A

Na

NM_001257069.

1:c.-119-25873 C > T

0.001179

5.00E-04

10.92

Transcript

Intronic

TLL1

chr4:166827816

A/T

rs72695713

NM_001204760.1:

c.169 + 32,591 A > T

0.005513

0.0075

11.69

Transcript

Intronic

NEK1

chr4:170464385

T/C

Na

NM_001199397.1:

c.1563-5323 A > G

0.001750

0.001

11.43

Transcript

Intronic

IRF4

chr6:393175

G/A

rs139884486

NM_001195286.1:

c.23G > A

3.9E-04

0.001

23.1

Coding Transcript

Non-synonymous

CYP7B1

chr8:65518926

G/T

rs185336165

NM_001324112.1:

c.1058-1512 C > A

0.003953

0.009

12.35

Transcript

Intronic

CSPP1

chr8:68106087

T/G

Na

NM_001291339.1:

c.2419 + 250T > G

0.001231

5.00E-04

10.44

Transcript

Intronic

NCOA2

chr8:71094518

A/G

rs182681059

NM_006540.3:

c.260-7424T > C

6.48E-05

0

15.78

Transcript

Intronic

KCNK9

chr8:140695084

G/C

Na

NM_001282534.1:

c.283 + 19,869 C > G

0

0

10.25

Transcript

Intronic

NFIB

chr9:14190548

G/A

Na

NM_001190738.1:

c.641-10769 C > T

0

0

17.98

Transcript

Intronic

NFIB

chr9:14236935

C/T

Na

NM_001190738.1:

c.641-57156G > A

0

0

19.88

Transcript

Intronic

NFIB

chr9:14242536

G/A

Na

NM_001190737.1:

c.563-62757 C > T

0.004408

0.002

18.8

Transcript

Intronic

NFIB

chr9:14302801

G/A

Na

NM_001190738.1:

c.640 + 4187 C > T

1.29E-04

0.002

17.56

Transcript

Intronic

HPSE2

chr10:100787305

A/G

Na

NM_001166244.1:

c.610 + 116690T > C

0.006031

0.0035

11.3

Transcript

Intronic

OPCML

chr11:132891613

G/C

rs5029236

NM_001012393.1:

c.62-78708 C > G

6.04E-04

0

18.19

Transcript

Intronic

FGD4

chr12:32798780

T/G

Na

NM_001304480.1:

c.*5313T > G

0

0

11.59

Transcript

3prime-UTR

ANO6

chr12:45663112

T/C

Na

NM_001204803.1:

c.71-1133T > C

0

0

17.42

Transcript

Intronic

FREM2

chr13:39384076

T/C

Na

NM_207361.4:

c.6019 + 25131T > C

0

0

10.96

Transcript

Intronic

DIAPH3

chr13:60308696

C/A

rs118098467

NM_001042517.1:

c.3319 + 39627G > T

0.001880

0.0045

17.56

Transcript

Intronic

DNAJC3

chr13:96328151

A/G

rs17884852

NR_132117.1:

n.1029T > C

0.002852

0.003

10.43

Transcript

Upstream

CLYBL

chr13:100285053

A/G

Na

NM_206808.3:

c.62 + 26,042 A > G

0

0

10.62

Transcript

Intronic

ETV4

chr17:41632099

G/C

Na

NC_000017.10:

g.41632099G > C

0

0

13.68

Transcript

Intronic

GOSR2

chr17:45028738

C/G

rs190194114

NM_001321133.1:

c.583 + 12,668 C > G

0.002205

0.004

15.59

Transcript

Intronic

HOXB3

chr17:46669864

A/AGGGAGGGGGCACTGGGT

Na

NM_002147.3:

c.563 − 63_563-47dup

0.001217

0

16.21

Transcript

Upstream

CA4

chr17:58228301

T/G

Na

NM_000717.3:

c.58 + 848T > G

0.001562

0

10.22

Transcript

Intronic

SOCS6

chr18:67956480

C/T

Na

NM_004232.3:

c.-127 + 154 C > T

0.002323

0.0035

12.83

Transcript

Intronic

STK35

chr20:2129173

G/T

Na

NM_080836.3:

c.*4781G > T

0

0

14.3

Transcript

3prime-UTR

KCNJ6

chr21:39075146

A/G

Na

NM_002240.3:

c.946 + 11368T > C

0.003114

0.005

10.96

Transcript

Intronic

PPARA

chr22:46601451

A/T

rs4823477

NM_001001928.3:

c.208 + 6963 A > T

0

0

11.53

Transcript

Intronic

  1. aGenomic coordinates were based on GRCh37, b Max minor allele frequency (MMAF) obtained from Genome Aggregation Database (gnomAD), c Minor allele frequency (MAF) obtained from SWEGEN database, d Combined Annotation Dependent Depletion (CADD) in silico prediction of variants pathogenic effect