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Table 1 Corresponding genes mapped from exclusive recurrent 5’ UTR variants in BD-cancer patients that overlapped with well-known pediatric genes

From: Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development

Chr

Locus

Ref

Alt

Gene

Alternations

dbSNP

2

47,783,971

G

C

MSH6

NM_001281494:c.-14919G > C

rs531348092

5

68,288,498

C

CCCA

PIK3R1

NM_181524:c.-238 C > CCCA

rs763393624

5

68,288,499

G

C

PIK3R1

NM_181524:c.-237G > C

.

8

31,058,397

T

C

WRN

NM_000553:c.-51T > C

rs187869929

9

95,507,024

A

C

PTCH1

NM_001083607:c.-21209T > G

rs189960172

11

3,797,572

G

A

NUP98

NM_139132:c.-15,455 C > T;NM_016320:c.-15,455 C > T;NM_005387:c.-15,455 C > T;NM_139131:c.-15,455 C > T

rs530477112

17

59,619,872

G

A

CLTC

NM_001288653:c.-260G > A;NM_004859:c.-260G > A

rs140454216

17

59,620,041

C

A

CLTC

NM_001288653:c.-91 C > A;NM_004859:c.-91 C > A

rs185248699