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chrom
stringclasses
21 values
pos
int64
726k
195M
ref
stringclasses
4 values
alt
stringclasses
4 values
label
bool
2 classes
consequence
stringclasses
11 values
pcr_confirmed
bool
2 classes
__index_level_0__
int64
0
504k
16
64,586,994
A
T
true
stop_gained
true
0
8
23,603,779
G
T
true
splice_acceptor
true
1
7
81,123,210
G
A
true
stop_gained
true
2
11
108,833,460
T
A
true
stop_gained
true
3
15
92,143,687
T
G
true
stop_gained
true
4
15
92,148,845
G
A
true
stop_gained
true
5
15
97,882,657
G
A
true
stop_gained
true
6
15
97,884,722
C
A
true
splice_acceptor
true
7
9
53,068,519
G
T
true
missense
true
8
7
27,995,890
C
T
true
missense
true
9
13
38,365,099
G
A
true
missense
true
10
11
69,446,978
C
T
true
missense
true
11
19
46,121,562
G
A
true
splice_acceptor
true
12
18
58,168,979
A
G
true
missense
true
13
11
115,160,288
C
T
true
missense
true
14
8
26,047,829
C
A
true
missense
true
15
3
53,455,096
G
A
true
missense
true
16
2
155,783,501
A
T
true
missense
true
17
10
79,560,614
G
A
true
missense
true
18
19
42,766,578
C
A
true
stop_gained
true
19
6
108,353,737
G
A
true
missense
true
20
18
45,725,104
G
A
true
stop_gained
true
21
18
45,788,313
G
A
true
stop_gained
true
22
18
45,818,486
A
T
true
stop_gained
true
23
1
92,983,967
G
A
true
missense
true
24
1
93,003,940
G
A
true
missense
true
25
5
123,919,726
C
T
true
stop_gained
true
26
11
99,237,772
A
G
true
missense
true
27
15
101,645,018
G
T
true
missense
true
28
15
101,644,992
C
T
true
missense
true
29
13
94,311,036
G
A
true
missense
true
30
2
91,322,989
C
T
true
missense
true
31
7
65,919,506
C
T
true
stop_gained
true
32
13
13,818,721
G
A
true
5_prime_UTR
true
33
8
124,134,522
G
A
true
missense
true
34
17
32,351,175
C
T
true
splice_donor
true
35
7
132,161,476
C
G
true
missense
true
36
7
56,006,860
C
A
true
missense
true
37
X
97,670,567
T
G
true
missense
true
38
11
115,223,001
G
A
true
5_prime_UTR
true
39
11
68,882,720
A
T
true
missense
true
40
11
68,891,416
C
T
true
splice_acceptor
true
41
12
112,729,855
G
T
true
missense
true
42
17
15,765,347
G
A
true
stop_gained
true
43
2
76,469,541
T
A
true
splice_donor
true
44
7
19,346,571
G
T
true
missense
true
45
15
100,857,545
C
T
true
stop_gained
true
46
13
73,832,362
G
A
true
stop_gained
true
47
13
73,830,277
C
A
true
splice_acceptor
true
48
7
49,567,357
G
A
true
missense
true
49
15
79,047,524
A
T
true
missense
true
50
11
112,673,670
C
T
true
missense
true
51
3
81,870,084
G
A
true
stop_gained
true
52
3
88,240,307
C
T
true
missense
true
53
5
66,837,124
C
A
true
missense
true
54
1
171,854,798
T
C
true
5_prime_UTR
true
55
9
37,340,882
T
C
true
missense
true
56
18
45,803,315
G
A
true
missense
true
57
X
6,794,781
C
T
true
missense
true
58
5
75,801,836
C
T
true
missense
true
59
10
26,862,875
C
A
true
missense
true
60
9
61,821,169
C
T
true
stop_gained
true
61
7
19,121,275
G
A
true
stop_gained
true
62
12
38,907,074
C
T
true
splice_donor
true
63
5
75,776,055
C
A
true
splice_donor
true
64
15
79,043,550
C
T
true
missense
true
65
8
12,877,574
C
G
true
missense
true
66
8
25,374,654
T
C
true
stop_gained
true
67
2
174,172,110
A
G
true
stop_gained
true
68
5
75,813,222
G
C
true
missense
true
69
7
46,421,430
C
A
true
missense
true
70
4
11,365,452
A
G
true
missense
true
71
6
64,372,279
G
A
true
missense
true
72
6
29,450,697
G
A
true
synonymous
true
73
6
42,286,914
T
A
true
synonymous
true
74
15
81,773,629
G
T
true
splice_acceptor
true
75
5
123,941,771
T
A
true
splice_acceptor
true
76
18
20,595,443
G
C
true
missense
true
77
2
112,184,627
G
T
true
missense
true
78
11
99,213,465
G
A
true
missense
true
79
15
101,644,992
C
T
true
stop_gained
true
80
19
44,391,661
G
T
true
stop_gained
true
81
10
10,658,528
C
T
true
missense
true
82
11
60,379,703
G
A
true
missense
true
83
13
31,743,608
C
T
true
missense
true
84
8
79,236,303
G
A
true
missense
true
85
X
71,992,873
G
A
true
missense
true
86
7
55,946,958
C
G
true
missense
true
87
5
75,802,023
C
T
true
missense
true
88
4
147,839,861
C
G
true
missense
false
89
2
11,769,016
C
T
true
missense
false
90
4
42,715,714
T
A
true
missense
false
91
4
145,264,390
C
T
true
missense
false
92
5
149,376,776
G
C
true
missense
false
93
9
3,001,406
G
A
true
missense
false
94
9
3,025,881
T
G
true
missense
false
95
16
32,570,760
A
T
true
stop_gained
false
96
1
82,696,662
C
T
true
stop_gained
false
97
5
100,186,669
G
A
true
missense
false
98
5
100,186,676
C
T
true
missense
false
99
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