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Table 2 Variants outside of hotspot locations of 50 cancer genes

From: Establishment and characterization of a cell line (HCH-1) originating from a human clear cell carcinoma of the ovary

 

Chromosome

Position

Ref Allele

Variant

Allele Type

Frequency

Variant Type

Allele Sourcea

Gene Symbol

Coverage

AA Ref

AA Variant

1

chr3

178917005

A

G

Heterozygous

40.2

SNP

Novel

PIK3CA

1950

unknown

unknown

2

chr4

1807894

G

A

Homozygous

100

SNP

Novel

FGFR3

1222

T

T

3

chr4

55141055

A

G

Homozygous

100

SNP

Novel

PDGFRA

1755

I

I

4

chr4

55972974

T

A

Homozygous

100

SNP

Novel

KDR

1987

Q

H

5

chr4

153249443

C

T

Homozygous

100

SNP

Novel

FBXW7

1998

V

V

6

chr5

112175770

G

A

Homozygous

100

SNP

Novel

APC

1981

A

A

7

chr5

149433596

TG

GA

Heterozygous

32.1

MNP

Novel

CSF1R

1993

unknown

unknown

8

chr7

55249063

G

A

Heterozygous

52.1

SNP

Novel

EGFR

1999

Q

Q

9

chr13

28610183

A

G

Homozygous

100

SNP

Novel

FLT3

1999

unknown

unknown

10

chr17

7579472

G

C

Heterozygous

49.2

SNP

Novel

TP53

1976

P

R

11

chr19

1220321

T

C

Heterozygous

55.4

SNP

Novel

STK11

1894

unknown

unknown

12

chr20

57484611

G

A

Heterozygous

48.9

SNP

Novel

GNAS

1994

R

H

  1. Ref reference, AA amino Acid
  2. aAllele Source, whether a variant is hotspot: Novel or Hotspot