Supplementary Table 1. Identified BAP1 mutations
Sample
ID*
cDNA position
Nucleotide
change
Mutation
Type
Smoking
associated
111
c.784-2
A -> C
Splice Site
Point
mutation
No
100
c.1604delA
1bp
p.D535fs*36
Deletion
No
Splice Site
Point
mutation
No
V23
c.437+1
T -> A
58
c.256-13_256-1del
13bp
Splice Site
Deletion
No
62
c.512delT
1bp
p.V171fs*15
Deletion
No
102
c.1952_1953insG
1bp
p.k651fs*12
Insertion
No
Point
mutation
Point
mutation
V65
c.2057-4
G -> T
Splice Site
Yes
V83
c.2057-4
G -> T
Splice Site
17
c.323_324delTG
2bp
p.L108fs*16
Deletion
No
V60
c.376-2
A -> G
Splice Site
Point
mutation
No
92
c.1794_1797delAGTG
4bp
p.P598fs*17
Deletion
No
V71
c.580+2
T -> C
Splice Site
Point
mutation
No
Yes
91
c.1553_1559del
7bp
p.R518fs*50
Deletion
No
V57
c.1892_1901del
10bp
p.E631fs*3
Deletion
No
V90
c.273
T -> G
p.C91W
Point
mutation
No
V76
c.602delA
1bp
p.E201fs*29
Deletion
No
V4
c.1937_1955del
19bp
p.Y646fs*3
Deletion
No
Point
mutation
Point
11
c.1972
A -> T
p.K658*
mutation
Point
V72
c.118
C -> T
p.Q40*
mutation
Point
79
c.2050
C -> T
p.Q684*
mutation
Point
V30
c.860
C -> G
p.S287*
mutation
Point
V86
c.188
C -> G
p.S63C
mutation
Point
73
c.1182
C -> G
p.Y394*
mutation
*Sample ID corresponds to Supplementary Tables 2 & 3, Bott et al. Nat Gen
2011
44
c.241
T -> G
p.F81V
No
No
No
No
No
No
No
1