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
1
3,499,885
C
A
0.99921
0.321392
missense_variant
true
3,168
0
missense_variant_1
1
3,523,464
G
C
0.93859
0.265679
intron_variant
true
7,957
658
intron_variant_34
1
3,524,379
A
C
1
0.221419
intron_variant
true
7,042
133
intron_variant_35
1
3,529,347
G
A
0.933194
0.208915
intron_variant
true
2,074
1,731
intron_variant_36
1
3,765,267
T
C
1
0.135093
intron_variant
true
7,480
1,266
intron_variant_37
1
3,769,851
C
T
0.999398
0.048137
synonymous_variant
true
2,896
0
synonymous_variant_6
1
3,813,073
T
C
0.009143
0.130435
3_prime_UTR_variant
false
16,575
0
3_prime_UTR_variant_27
1
3,831,039
T
C
0.004611
0.062823
splice_region_variant
false
26,153
5
splice_region_variant_3
1
3,831,521
A
G
0.904876
0.346273
intron_variant
true
25,671
299
intron_variant_38
1
3,834,167
T
G
0.004611
0.062823
intron_variant
false
23,025
132
intron_variant_99
1
3,836,572
A
T
0.003077
0.387218
missense_variant
false
20,620
0
missense_variant_42
1
3,853,861
G
A
0.006296
0.389922
intron_variant
false
3,331
1,440
intron_variant_21
1
3,855,159
A
T
0.005808
0.056799
intron_variant
false
2,033
713
intron_variant_204
1
3,873,098
A
G
0.999509
0.270589
3_prime_UTR_variant
true
15,622
526
3_prime_UTR_variant_4
1
3,874,969
G
A
0.970962
0.45069
intron_variant
true
17,493
2,397
intron_variant_39
1
3,879,978
G
A
0.921791
0.467321
intron_variant
true
20,241
3,527
intron_variant_40
1
3,880,831
A
G
0.008034
0.177885
intron_variant
false
19,388
2,674
intron_variant_103
1
3,887,191
T
C
0.925679
0.2878
intergenic_variant
true
13,028
1,762
intergenic_variant_5
1
3,891,607
T
C
1
0.233507
missense_variant
true
8,612
550
missense_variant_2
1
3,891,798
G
A
0.999792
0.342792
non_coding_transcript_exon_variant
true
8,421
741
non_coding_transcript_exon_variant_14
1
3,912,190
G
A
0.944434
0.420373
intron_variant
true
11,918
11,918
intron_variant_41
1
3,914,668
A
G
0.963255
0.223199
non_coding_transcript_exon_variant
true
14,396
14,396
non_coding_transcript_exon_variant_15
1
4,054,066
G
T
0.996245
0.25
intergenic_variant
true
153,794
153,794
intergenic_variant_6
1
4,104,939
G
T
0.970472
0.020833
intergenic_variant
true
204,667
204,667
intergenic_variant_7
1
4,572,500
A
G
1
0.456522
non_coding_transcript_exon_variant
true
82,107
82,107
non_coding_transcript_exon_variant_16
1
5,218,696
A
G
0.967737
0.011737
intergenic_variant
true
563,964
426,162
intergenic_variant_8
1
5,820,406
C
A
0.004646
0.261628
intergenic_variant
false
170,519
42,403
intergenic_variant_16
1
5,833,391
T
C
0.005297
0.254153
intergenic_variant
false
157,534
29,418
intergenic_variant_6
1
5,864,980
G
A
0.009269
0.163366
non_coding_transcript_exon_variant
false
125,945
120
non_coding_transcript_exon_variant_97
1
5,875,102
T
A
1
0.180815
splice_acceptor_variant
true
115,823
2
splice_acceptor_variant_0
1
5,975,453
C
T
0.007502
0.326412
intron_variant
false
15,472
2,815
intron_variant_53
1
5,978,829
T
G
0.006023
0.157275
intron_variant
false
12,096
416
intron_variant_226
1
6,084,634
A
G
1
0.474294
intron_variant
true
18,881
568
intron_variant_42
1
6,085,821
T
C
0.999812
0.302975
synonymous_variant
true
20,068
0
synonymous_variant_7
1
6,089,226
G
C
0.94771
0.268733
intron_variant
true
17,544
175
intron_variant_43
1
6,222,890
T
G
0.999991
0.022814
3_prime_UTR_variant
true
13,072
0
3_prime_UTR_variant_5
1
6,233,935
G
A
0.97779
0.027301
intron_variant
true
2,027
292
intron_variant_44
1
6,314,823
A
C
0.009924
0.020588
intron_variant
false
37,424
3,667
intron_variant_163
1
6,441,255
G
A
0.991532
0.015781
intron_variant
true
877
190
intron_variant_45
1
6,450,512
C
T
0.954512
0.071253
intron_variant
true
138
42
intron_variant_46
1
6,491,632
C
T
0.996178
0.135903
splice_donor_5th_base_variant
true
33
0
splice_donor_5th_base_variant_0
1
6,496,949
A
C
0.999907
0.188524
intron_variant
true
145
8
intron_variant_47
1
6,575,246
G
A
0.941422
0.128882
missense_variant
true
4,305
0
missense_variant_3
1
6,580,056
A
G
1
0.148401
splice_region_variant
true
30
0
splice_region_variant_2
1
7,536,323
C
G
0.952071
0.061856
intron_variant
true
127,960
68,422
intron_variant_48
1
7,556,680
A
G
0.999767
0.383562
intron_variant
true
107,603
83,718
intron_variant_49
1
7,776,599
A
C
0.978699
0.389965
non_coding_transcript_exon_variant
true
3,892
559
non_coding_transcript_exon_variant_17
1
7,787,776
T
C
0.007006
0.396505
non_coding_transcript_exon_variant
false
3,073
267
non_coding_transcript_exon_variant_11
1
7,806,023
G
A
0.998832
0.408158
intron_variant
true
21,320
2,065
intron_variant_50
1
7,954,388
C
T
0.009966
0.472868
intron_variant
false
97
65
intron_variant_206
1
7,963,526
C
T
0.987839
0.143199
intron_variant
true
1,557
651
intron_variant_51
1
7,968,870
T
G
1
0.129351
intron_variant
true
3,519
473
intron_variant_52
1
7,969,386
C
T
0.990841
0.01665
synonymous_variant
true
4,035
0
synonymous_variant_8
1
7,980,117
T
C
0.99234
0.325981
intron_variant
true
14,766
2,379
intron_variant_53
1
8,332,386
T
G
0.999922
0.274006
intron_variant
true
8,056
1,450
intron_variant_54
1
8,974,362
G
A
1
0.375392
missense_variant
true
28,475
0
missense_variant_4
1
8,974,539
A
G
1
0.433153
intron_variant
true
28,652
81
intron_variant_55
1
9,003,543
G
C
0.999312
0.465839
intron_variant
true
22,878
25
intron_variant_56
1
9,337,979
G
C
0.95693
0.013975
intron_variant
true
13,450
13,450
intron_variant_57
1
9,723,347
G
A
0.93382
0.02795
non_coding_transcript_exon_variant
true
2,885
55
non_coding_transcript_exon_variant_18
1
9,998,046
G
A
0.999019
0.18474
intron_variant
true
818
715
intron_variant_58
1
10,008,419
A
G
0.907219
0.180164
intron_variant
true
11,191
145
intron_variant_59
1
10,294,213
G
T
0.004995
0.287037
splice_donor_variant
false
58,449
1
splice_donor_variant_3
1
10,342,727
A
G
0.008727
0.347297
intron_variant
false
9,935
503
intron_variant_383
1
10,354,374
A
G
0.004188
0.283476
intron_variant
false
1,710
994
intron_variant_222
1
10,382,868
G
C
0.000753
0.289552
non_coding_transcript_exon_variant
false
15,722
1,265
non_coding_transcript_exon_variant_53
1
10,418,670
G
A
0.000769
0.323881
intron_variant
false
11,430
154
intron_variant_157
1
10,419,621
G
A
0.000803
0.290299
splice_polypyrimidine_tract_variant
false
10,479
7
splice_polypyrimidine_tract_variant_21
1
11,046,609
T
C
0.999737
0.024039
missense_variant
true
596
0
missense_variant_5
1
11,259,530
A
G
0.008865
0.349282
intron_variant
false
2,998
107
intron_variant_127
1
11,531,267
T
G
0.999548
0.015528
intron_variant
true
2,407
234
intron_variant_60
1
11,653,109
A
G
1
0.44413
intron_variant
true
1,264
1,208
intron_variant_61
1
11,664,651
T
C
0.999262
0.172701
non_coding_transcript_exon_variant
true
451
396
non_coding_transcript_exon_variant_19
1
11,666,442
T
C
0.999989
0.473736
intron_variant
true
2,242
2,187
intron_variant_62
1
11,744,533
T
G
0.999992
0.052782
missense_variant
true
8,358
0
missense_variant_6
1
11,745,326
C
G
0.967578
0.054719
intron_variant
true
9,151
475
intron_variant_63
1
11,747,369
C
T
0.997729
0.37296
intron_variant
true
11,194
69
intron_variant_64
1
11,749,469
G
A
1
0.020282
intron_variant
true
12,316
606
intron_variant_65
1
11,764,185
A
C
0.008548
0.298165
intron_variant
false
1,992
144
intron_variant_389
1
11,771,558
C
T
1
0.321429
missense_variant
true
562
0
missense_variant_7
1
11,790,946
G
C
0.999949
0.26236
intron_variant
true
5,597
48
intron_variant_66
1
11,792,243
C
T
0.999131
0.25422
intron_variant
true
4,300
33
intron_variant_67
1
11,794,839
G
A
0.003355
0.093137
synonymous_variant
false
1,704
0
synonymous_variant_1
1
11,803,847
C
T
0.0073
0.090717
5_prime_UTR_variant
false
321
0
5_prime_UTR_variant_13
1
11,807,680
A
G
0.0073
0.090717
intron_variant
false
1,420
490
intron_variant_121
1
11,819,628
C
T
0.00946
0.424454
intron_variant
false
13,368
74
intron_variant_92
1
11,838,802
G
A
0.006214
0.035821
missense_variant
false
8,979
0
missense_variant_52
1
11,842,602
G
T
0.99983
0.020186
3_prime_UTR_variant
true
5,179
0
3_prime_UTR_variant_6
1
11,935,354
G
A
0.951739
0.173511
intron_variant
true
611
499
intron_variant_68
1
11,982,204
A
G
0.969743
0.488508
intron_variant
true
1,758
90
intron_variant_69
1
11,986,971
T
C
0.003159
0.374187
intron_variant
false
6,525
1,454
intron_variant_93
1
12,001,541
C
T
1
0.012761
missense_variant
true
17,955
0
missense_variant_8
1
12,728,439
A
G
0.00769
0.214286
3_prime_UTR_variant
false
12,329
0
3_prime_UTR_variant_0
1
12,787,954
C
T
0.935579
0.020186
intergenic_variant
true
3,441
3,441
intergenic_variant_9
1
12,795,495
A
G
0.00294
0.036083
synonymous_variant
false
4,098
0
synonymous_variant_31
1
12,795,504
G
A
0.00294
0.036083
synonymous_variant
false
4,107
0
synonymous_variant_36
1
12,795,846
C
T
0.003774
0.033505
synonymous_variant
false
4,449
0
synonymous_variant_24
1
12,808,034
T
C
0.002372
0.03866
intergenic_variant
false
16,637
11,406
intergenic_variant_53
1
12,883,645
C
T
0.907085
0.013441
intron_variant
true
2,554
235
intron_variant_70
1
12,892,902
G
T
0.004823
0.028351
3_prime_UTR_variant
false
5,366
0
3_prime_UTR_variant_15