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
5
100,186,684
A
G
true
missense
false
100
5
140,892,504
C
T
true
stop_gained
false
101
9
3,025,870
A
C
true
stop_gained
false
102
4
147,839,861
C
G
true
missense
false
103
2
11,769,016
C
T
true
missense
false
104
14
44,160,423
C
T
true
missense
false
105
12
52,144,664
G
T
true
stop_gained
false
106
7
127,405,469
G
A
true
missense
false
107
11
99,240,313
G
T
true
missense
false
108
15
100,857,545
C
T
true
missense
false
109
12
104,740,690
C
T
true
missense
false
110
5
75,813,482
C
T
true
missense
false
111
7
55,742,461
G
A
true
missense
false
112
7
97,746,695
C
T
true
missense
false
113
11
108,833,460
T
A
true
missense
false
114
11
107,577,621
T
C
true
missense
false
115
11
115,971,332
T
G
true
missense
false
116
7
27,995,890
C
T
true
missense
false
117
8
124,134,522
G
A
true
missense
false
119
13
38,365,099
G
A
true
missense
false
120
12
84,199,230
G
A
true
missense
false
123
2
35,066,247
A
G
true
missense
false
124
9
44,161,188
A
G
true
missense
false
125
X
7,535,224
G
A
true
missense
false
126
15
8,123,235
C
A
true
missense
false
127
5
113,900,938
G
A
true
missense
false
128
7
32,141,206
C
T
true
missense
false
130
X
73,067,137
C
T
true
missense
false
131
12
85,878,722
T
G
true
missense
false
132
13
19,026,347
T
C
true
missense
false
133
2
128,475,370
A
T
true
missense
false
134
15
54,616,297
T
C
true
missense
false
135
16
48,109,381
C
T
true
3_prime_UTR
false
136
2
156,382,362
G
A
true
missense
false
137
4
114,470,745
T
A
true
stop_gained
false
138
2
26,993,212
G
A
true
3_prime_UTR
false
139
2
64,929,678
C
T
true
missense
false
140
2
174,141,888
G
A
true
splice_donor_region
false
141
2
62,533,359
G
T
true
splice_donor_region
false
142
2
70,823,843
C
T
true
missense
false
143
3
62,512,451
A
G
true
stop_gained
false
144
3
88,239,869
G
C
true
3_prime_UTR
false
145
15
74,543,004
C
G
true
missense
false
147
9
61,821,169
C
T
true
missense
false
148
13
94,311,036
G
A
true
missense
false
149
18
58,168,979
A
G
true
missense
false
150
18
76,947,840
A
G
true
splice_polypyrimidine_tract
false
151
18
76,947,846
G
A
true
missense
false
152
18
76,947,853
C
G
true
synonymous
false
153
11
115,160,288
C
T
true
synonymous
false
154
1
163,530,774
C
T
true
missense
false
155
11
115,223,001
G
A
true
synonymous
false
156
2
6,051,800
G
A
true
missense
false
157
2
91,322,989
C
T
true
missense
false
158
7
83,584,591
A
G
true
missense
false
159
7
3,871,732
G
C
true
missense
false
160
7
55,742,461
G
A
true
missense
false
161
7
143,221,133
T
G
true
missense
false
162
11
55,418,154
C
T
true
missense
false
163
8
112,716,892
C
A
true
3_prime_UTR
false
165
4
11,365,452
A
G
true
3_prime_UTR
false
167
4
136,381,374
G
T
true
3_prime_UTR
false
168
6
64,372,279
G
A
true
stop_gained
false
169
7
19,121,275
G
A
true
synonymous
false
170
7
139,503,806
G
C
true
missense
false
171
7
18,408,306
G
A
true
synonymous
false
172
12
80,804,350
C
T
true
missense
false
173
12
85,522,524
G
A
true
5_prime_UTR
false
174
12
80,989,597
G
A
true
stop_gained
false
175
12
83,597,537
C
A
true
3_prime_UTR
false
176
6
29,450,697
G
A
true
3_prime_UTR
false
177
11
105,072,615
C
A
true
splice_donor
false
178
11
105,072,617
G
C
true
splice_donor
false
179
11
105,072,618
G
A
true
missense
false
180
8
45,723,693
C
A
true
missense
false
181
8
79,236,303
G
A
true
missense
false
182
12
38,907,074
C
T
true
missense
false
183
18
45,725,104
G
A
true
missense
false
184
6
42,286,914
T
A
true
missense
false
185
15
81,773,629
G
T
true
missense
false
186
15
25,986,920
G
A
true
3_prime_UTR
false
187
5
122,926,341
C
A
true
missense
false
188
5
123,941,771
T
A
true
missense
false
189
X
163,727,205
C
G
true
3_prime_UTR
false
190
10
84,615,875
G
T
true
splice_donor_region
false
192
11
71,109,042
G
A
true
splice_donor_region
false
193
11
71,171,984
T
C
true
3_prime_UTR
false
194
11
68,276,085
T
C
true
missense
false
195
1
174,014,778
T
G
true
stop_gained
false
196
1
155,155,649
A
C
true
synonymous
false
197
1
155,155,650
G
T
true
missense
false
198
11
43,620,538
T
G
true
missense
false
199
4
141,204,410
A
G
true
missense
false
200
18
66,103,099
T
A
true
3_prime_UTR
false
201
18
38,416,066
A
G
true
missense
false
202
18
61,445,322
G
A
true
missense
false
203
18
61,344,549
G
A
true
missense
false
204
18
20,595,443
G
C
true
missense
false
205
10
88,573,015
A
T
true
missense
false
206
11
71,063,193
T
G
true
synonymous
false
207