chrom
stringclasses
23 values
pos
int64
12k
248M
ref
stringclasses
4 values
alt
stringclasses
4 values
pip
float64
0
1
maf
float64
0.01
0.5
consequence
stringclasses
16 values
label
bool
2 classes
tss_dist
int64
0
5.43M
exon_dist
int64
0
5.43M
match_group
stringlengths
13
39
X
103,330,974
G
C
0.986844
0.452601
splice_polypyrimidine_tract_variant
true
735
0
splice_polypyrimidine_tract_variant_242
X
103,404,676
C
G
0.003579
0.403727
upstream_gene_variant
false
27,760
26,512
upstream_gene_variant_121
X
103,580,747
T
C
0.009732
0.022777
intron_variant
false
4,516
3,534
intron_variant_4242
X
103,604,118
T
G
0.009732
0.022777
intergenic_variant
false
3,331
3,331
intergenic_variant_837
X
103,683,140
G
A
0.969689
0.224798
intron_variant
true
3,557
1,539
intron_variant_4238
X
103,881,587
G
T
0.006139
0.349765
non_coding_transcript_exon_variant
false
37,307
37,307
non_coding_transcript_exon_variant_1114
X
104,019,882
A
G
0.924417
0.014634
intergenic_variant
true
6,174
6,174
intergenic_variant_844
X
107,065,063
G
A
0.001449
0.180124
3_prime_UTR_variant
false
51,701
0
3_prime_UTR_variant_438
X
107,089,790
G
T
0.001449
0.180124
intron_variant
false
26,974
951
intron_variant_4196
X
107,117,211
C
A
0.005356
0.226708
intron_variant
false
445
445
intron_variant_4218
X
107,119,168
T
C
0.944514
0.110665
upstream_gene_variant
true
346
346
upstream_gene_variant_123
X
107,146,969
A
G
0.005356
0.226708
intron_variant
false
7,263
772
intron_variant_4220
X
107,153,172
A
G
0.005356
0.226708
missense_variant
false
1,060
0
missense_variant_557
X
107,173,373
G
A
0.005356
0.226708
intron_variant
false
19,139
1,714
intron_variant_4192
X
107,206,413
G
T
0.003121
0.177019
5_prime_UTR_variant
false
18
0
5_prime_UTR_variant_299
X
107,271,911
C
G
0.003941
0.223602
upstream_gene_variant
false
64,763
27,664
upstream_gene_variant_122
X
107,272,895
G
C
0.006311
0.195652
non_coding_transcript_exon_variant
false
65,747
28,648
non_coding_transcript_exon_variant_1111
X
107,290,081
T
C
0.003941
0.223602
intergenic_variant
false
82,933
45,834
intergenic_variant_828
X
111,388,666
G
A
0.993323
0.101523
intron_variant
true
21,752
12,322
intron_variant_4239
X
115,593,515
C
T
1
0.15528
intron_variant
true
91
91
intron_variant_4240
X
118,676,868
C
T
0.991388
0.411454
intron_variant
true
6,233
131
intron_variant_4241
X
118,727,358
G
T
0.005981
0.397516
5_prime_UTR_variant
false
225
0
5_prime_UTR_variant_297
X
118,758,328
C
G
0.003772
0.255594
intron_variant
false
30,722
86
intron_variant_4195
X
119,144,594
G
A
0.953774
0.01919
intron_variant
true
5,983
2,877
intron_variant_4242
X
119,451,980
A
G
0.974151
0.167
non_coding_transcript_exon_variant
true
16,462
27
non_coding_transcript_exon_variant_1110
X
119,469,389
G
A
0.007585
0.045549
splice_donor_region_variant
false
945
270
splice_donor_region_variant_52
X
119,936,604
A
T
0.007473
0.471429
splice_region_variant
false
6,998
6
splice_region_variant_108
X
120,088,646
A
G
0.929233
0.083351
intron_variant
true
10,956
10,956
intron_variant_4243
X
120,117,350
T
C
0.009968
0.13676
intron_variant
false
1,437
1,437
intron_variant_4184
X
120,421,052
C
T
0.931015
0.389499
intergenic_variant
true
48,242
5,094
intergenic_variant_845
X
123,204,486
A
G
0.999968
0.047165
3_prime_UTR_variant
true
20,187
0
3_prime_UTR_variant_434
X
123,204,564
A
G
1
0.045643
3_prime_UTR_variant
true
20,265
0
3_prime_UTR_variant_435
X
123,601,370
G
C
0.999998
0.336269
3_prime_UTR_variant
true
12,182
0
3_prime_UTR_variant_436
X
123,908,574
G
A
0.003897
0.18806
3_prime_UTR_variant
false
48,302
0
3_prime_UTR_variant_437
X
130,338,788
A
G
0.956233
0.419255
intergenic_variant
true
1,098
1,098
intergenic_variant_846
X
131,795,275
C
T
0.008
0.31297
non_coding_transcript_exon_variant
false
216,376
216,376
non_coding_transcript_exon_variant_1099
X
134,476,316
A
G
0.003426
0.111842
intron_variant
false
16,151
952
intron_variant_4190
X
134,544,822
G
A
1
0.188943
non_coding_transcript_exon_variant
true
84,657
21,014
non_coding_transcript_exon_variant_1111
X
135,911,846
T
C
0.006177
0.251553
missense_variant
false
18,130
0
missense_variant_558
X
136,308,659
T
A
0.008425
0.431373
intron_variant
false
2,638
108
intron_variant_4225
X
137,244,638
C
T
0.009985
0.21322
intergenic_variant
false
210,643
210,643
intergenic_variant_833
X
141,896,464
C
T
0.99981
0.412195
5_prime_UTR_variant
true
229
0
5_prime_UTR_variant_301
X
142,293,779
T
C
0.90122
0.256592
intron_variant
true
88,489
88,489
intron_variant_4244
X
149,534,015
C
T
0.998254
0.027427
non_coding_transcript_exon_variant
true
80
0
non_coding_transcript_exon_variant_1112
X
150,014,957
G
A
0.006708
0.027383
non_coding_transcript_exon_variant
false
76,466
76,466
non_coding_transcript_exon_variant_1112
X
150,759,145
A
G
0.979114
0.418605
intron_variant
true
55,717
3,280
intron_variant_4245
X
150,770,869
C
A
0.943973
0.133663
intron_variant
true
43,993
500
intron_variant_4246
X
151,486,372
T
C
0.005845
0.409544
intergenic_variant
false
77,301
77,008
intergenic_variant_829
X
151,688,737
G
A
0.946447
0.464286
intergenic_variant
true
5,868
5,868
intergenic_variant_847
X
151,956,016
A
C
0.925704
0.363279
non_coding_transcript_exon_variant
true
18,658
156
non_coding_transcript_exon_variant_1113
X
151,957,499
A
G
0.999943
0.319899
splice_polypyrimidine_tract_variant
true
17,175
1,639
splice_polypyrimidine_tract_variant_243
X
151,961,350
G
A
1
0.18549
synonymous_variant
true
13,324
0
synonymous_variant_480
X
151,973,735
A
G
1
0.2677
intron_variant
true
939
833
intron_variant_4247
X
152,947,039
T
C
0.999992
0.076065
intron_variant
true
5,338
1,575
intron_variant_4248
X
152,963,989
G
A
0.93738
0.10559
intron_variant
true
22,288
40
intron_variant_4249
X
152,991,916
T
C
0.985784
0.279423
splice_region_variant
true
296
0
splice_region_variant_109
X
153,503,202
G
A
0.999567
0.047619
intron_variant
true
7,686
1,417
intron_variant_4250
X
153,503,691
G
C
1
0.318458
intron_variant
true
8,175
928
intron_variant_4251
X
153,505,665
T
G
0.999942
0.468036
intron_variant
true
10,149
196
intron_variant_4252
X
153,723,443
T
G
0.99822
0.056753
intron_variant
true
44
44
intron_variant_4253
X
153,771,717
G
A
0.953017
0.150423
intron_variant
true
3,040
62
intron_variant_4254
X
153,778,914
C
A
0.929991
0.176509
intron_variant
true
1,397
19
intron_variant_4255
X
153,796,101
G
C
0.918422
0.358633
non_coding_transcript_exon_variant
true
1,427
331
non_coding_transcript_exon_variant_1114
X
153,796,262
T
C
0.960548
0.021964
non_coding_transcript_exon_variant
true
1,588
170
non_coding_transcript_exon_variant_1115
X
153,807,864
G
A
1
0.122439
non_coding_transcript_exon_variant
true
13,190
476
non_coding_transcript_exon_variant_1116
X
153,874,994
C
T
0.998931
0.266917
intron_variant
true
851
765
intron_variant_4256
X
153,931,677
C
T
0.007914
0.246032
non_coding_transcript_exon_variant
false
3,258
392
non_coding_transcript_exon_variant_1102
X
153,937,937
A
G
0.009076
0.215152
intron_variant
false
2,276
1,832
intron_variant_4238
X
154,396,528
A
G
0.999673
0.182297
intron_variant
true
1,837
1,837
intron_variant_4257
X
154,412,069
T
C
1
0.226089
splice_polypyrimidine_tract_variant
true
12
0
splice_polypyrimidine_tract_variant_244
X
154,455,186
C
T
0.949511
0.087445
intergenic_variant
true
3,093
3,093
intergenic_variant_848
X
154,467,565
T
G
1
0.177796
synonymous_variant
true
9,284
0
synonymous_variant_481
X
154,473,373
G
A
0.925902
0.190372
3_prime_UTR_variant
true
5,906
0
3_prime_UTR_variant_437
X
154,477,925
C
G
0.906906
0.163367
3_prime_UTR_variant
true
1,354
0
3_prime_UTR_variant_438
X
154,480,849
G
A
1
0.291284
intergenic_variant
true
1,568
1,568
intergenic_variant_849
X
154,490,637
C
A
0.998292
0.236146
5_prime_UTR_variant
true
8
0
5_prime_UTR_variant_302
X
154,900,519
G
C
0.009303
0.017241
intron_variant
false
14,164
568
intron_variant_4221
X
155,285,375
C
T
0.008449
0.284723
intron_variant
false
20,884
5,307
intron_variant_4232
X
155,335,631
C
G
0.006108
0.28412
intron_variant
false
974
974
intron_variant_4256
X
155,717,274
G
T
0.003126
0.194275
intron_variant
false
1,822
1,751
intron_variant_4257
X
155,720,291
C
G
0.004336
0.19536
intron_variant
false
1,193
1,193
intron_variant_4178
X
156,021,873
C
T
0.999468
0.02333
non_coding_transcript_exon_variant
true
912
81
non_coding_transcript_exon_variant_1117