chrom
stringclasses
12 values
pos
int64
36.1k
249M
ref
stringclasses
4 values
alt
stringclasses
4 values
label
bool
2 classes
subset
stringclasses
8 values
match_group
int64
0
2.16k
rsid
stringlengths
3
15
pip
float64
0
1
traits
stringclasses
279 values
MAF
float64
0
0.5
ld_score
float64
1.01
3.79k
consequence
stringclasses
13 values
consequence_cre
stringclasses
29 values
exon_closest_pc_gene_id
stringlengths
15
15
distance_exon_pc
int64
0
1.68M
exon_closest_nc_gene_id
stringlengths
15
15
distance_exon_nc
int64
0
507k
distance_exon
int64
0
507k
exon_closest_gene_id
stringlengths
15
15
consequence_final
stringclasses
28 values
tss_closest_pc_gene_id
stringlengths
15
15
distance_tss_pc
int64
0
1.69M
tss_closest_nc_gene_id
stringlengths
15
15
distance_tss_nc
int64
0
531k
distance_tss
int64
0
531k
tss_closest_gene_id
stringlengths
15
15
consequence_group
stringclasses
8 values
distance_tss_pc_bin
stringclasses
4 values
distance_exon_pc_bin
stringclasses
7 values
1
248,239,713
C
A
false
missense_variant
91
rs41303133
0.000016
0.007929
11.087
missense_variant
missense_variant
ENSG00000171180
0
ENSG00000177233
116,830
0
ENSG00000171180
missense_variant
ENSG00000171180
8,295
ENSG00000177233
117,780
8,295
ENSG00000171180
missense_variant
NA
NA
1
248,323,709
G
A
false
missense_variant
91
rs367828278
0.000019
0.000131
1.4965
missense_variant
missense_variant
ENSG00000177186
0
ENSG00000227152
112,649
0
ENSG00000177186
missense_variant
ENSG00000177186
858
ENSG00000227152
112,649
858
ENSG00000177186
missense_variant
NA
NA
1
248,323,743
C
G
false
missense_variant
91
rs369361802
0.000017
0.000291
4.0821
missense_variant
missense_variant
ENSG00000177186
0
ENSG00000227152
112,615
0
ENSG00000177186
missense_variant
ENSG00000177186
824
ENSG00000227152
112,615
824
ENSG00000177186
missense_variant
NA
NA
1
248,323,756
G
C
false
missense_variant
91
rs114086448
0.000033
0.000071
122.67
missense_variant
missense_variant
ENSG00000177186
0
ENSG00000227152
112,602
0
ENSG00000177186
missense_variant
ENSG00000177186
811
ENSG00000227152
112,602
811
ENSG00000177186
missense_variant
NA
NA
1
248,323,866
G
A
false
missense_variant
91
rs55956377
0.000158
0.001108
7.121
missense_variant
missense_variant
ENSG00000177186
0
ENSG00000227152
112,492
0
ENSG00000177186
missense_variant
ENSG00000177186
701
ENSG00000227152
112,492
701
ENSG00000177186
missense_variant
NA
NA
1
248,324,399
G
A
false
missense_variant
91
rs41304036
0.000016
0.017246
24.254
missense_variant
missense_variant
ENSG00000177186
0
ENSG00000227152
111,959
0
ENSG00000177186
missense_variant
ENSG00000177186
168
ENSG00000227152
111,959
168
ENSG00000177186
missense_variant
NA
NA
1
248,387,675
T
G
false
missense_variant
115
rs6587467
0.000021
0.30555
410.87
missense_variant
missense_variant
ENSG00000198104
0
ENSG00000227152
48,683
0
ENSG00000198104
missense_variant
ENSG00000198104
11,928
ENSG00000227152
48,683
11,928
ENSG00000198104
missense_variant
NA
NA
1
248,655,490
G
A
false
5_prime_UTR_variant
126
rs150434942
0.000083
0.12261
293.3
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000187701
0
ENSG00000229703
36,269
0
ENSG00000187701
5_prime_UTR_variant
ENSG00000187701
37
ENSG00000229703
36,269
37
ENSG00000187701
5_prime_UTR_variant
NA
NA
1
248,842,161
G
A
false
distal
55
rs4578256
0.000049
0.14176
102.56
intron_variant
dELS
ENSG00000171161
2,321
ENSG00000171161
561
561
ENSG00000171161
dELS
ENSG00000171161
3,006
ENSG00000171161
3,070
3,006
ENSG00000171161
distal
NA
NA
1
248,897,507
G
A
true
distal
25
rs4335411
0.99965
AG,Benign_Neoplasms,Lym,Mono,NAP,Plt
0.23861
42.14
intergenic_variant
dELS_flank
ENSG00000185220
8,688
ENSG00000185220
8,864
8,688
ENSG00000185220
dELS_flank
ENSG00000185220
8,688
ENSG00000185220
8,864
8,688
ENSG00000185220
distal
NA
NA
11
196,944
C
T
true
5_prime_UTR_variant
278
rs11604127
0.98208
Plt
0.23218
95.866
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000177947
0
ENSG00000177947
0
0
ENSG00000177947
5_prime_UTR_variant
ENSG00000177947
8
ENSG00000177947
148
8
ENSG00000177947
5_prime_UTR_variant
NA
NA
11
197,337
G
A
true
synonymous_variant
285
rs3802984
0.9274
Plt
0.23106
58.065
synonymous_variant
synonymous_variant
ENSG00000177947
0
ENSG00000177947
0
0
ENSG00000177947
synonymous_variant
ENSG00000177947
383
ENSG00000177947
541
383
ENSG00000177947
synonymous_variant
NA
NA
11
197,557
A
G
false
splicing
405
rs7103852
0.009998
0.07455
58.929
splice_region_variant
splice_region_variant
ENSG00000177947
3
ENSG00000177947
3
3
ENSG00000177947
splice_region_variant
ENSG00000177947
603
ENSG00000177947
761
603
ENSG00000177947
splicing
NA
splicing:b0
11
208,235
G
A
false
5_prime_UTR_variant
278
rs11606393
0.000818
0.22733
101.26
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000177963
0
ENSG00000177963
564
0
ENSG00000177963
5_prime_UTR_variant
ENSG00000177963
294
ENSG00000177963
564
294
ENSG00000177963
5_prime_UTR_variant
NA
NA
11
223,823
G
A
false
synonymous_variant
286
rs149395025
0.000196
0.034413
41.379
synonymous_variant
synonymous_variant
ENSG00000142082
254
ENSG00000142082
0
0
ENSG00000142082
synonymous_variant
ENSG00000142082
9,859
ENSG00000142082
6,868
6,868
ENSG00000142082
synonymous_variant
NA
NA
11
237,312
T
C
false
tss_proximal
378
rs3817629
0.007357
0.24304
111.91
intron_variant
pELS
ENSG00000185627
167
ENSG00000185627
167
167
ENSG00000185627
tss_proximal
ENSG00000185627
285
ENSG00000185627
273
273
ENSG00000185627
tss_proximal
tss_prox:b1
tss_prox:b1
11
243,557
G
A
false
tss_proximal
378
rs6598064
0.004492
0.24378
112.21
intron_variant
intron_variant
ENSG00000185627
483
ENSG00000277290
73
73
ENSG00000277290
tss_proximal
ENSG00000185627
871
ENSG00000277290
73
73
ENSG00000277290
tss_proximal
tss_prox:b1
tss_prox:b1
11
243,672
G
A
false
tss_proximal
378
rs6598063
0.004525
0.24378
112.21
intron_variant
intron_variant
ENSG00000185627
368
ENSG00000277290
188
188
ENSG00000277290
tss_proximal
ENSG00000185627
756
ENSG00000277290
188
188
ENSG00000277290
tss_proximal
tss_prox:b1
tss_prox:b1
11
243,712
A
G
false
tss_proximal
378
rs6598062
0.004536
0.24378
112.2
intron_variant
intron_variant
ENSG00000185627
328
ENSG00000277290
228
228
ENSG00000277290
tss_proximal
ENSG00000185627
716
ENSG00000277290
228
228
ENSG00000277290
tss_proximal
tss_prox:b1
tss_prox:b1
11
243,853
G
A
false
tss_proximal
378
rs6598061
0.004488
0.24378
112.2
intron_variant
intron_variant
ENSG00000185627
187
ENSG00000185627
187
187
ENSG00000185627
tss_proximal
ENSG00000185627
575
ENSG00000277290
369
369
ENSG00000277290
tss_proximal
tss_prox:b1
tss_prox:b1
11
245,686
A
G
false
distal
385
rs7478850
0.002445
0.24101
110.42
intron_variant
intron_variant
ENSG00000185627
924
ENSG00000185627
924
924
ENSG00000185627
intron_variant
ENSG00000185627
1,256
ENSG00000277290
2,202
1,256
ENSG00000185627
distal
NA
NA
11
288,505
T
C
false
non_coding_transcript_exon_variant
350
rs741737
0.000876
0.26925
34.018
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000142102
620
ENSG00000255026
0
0
ENSG00000255026
non_coding_transcript_exon_variant
ENSG00000142102
620
ENSG00000255026
418
418
ENSG00000255026
non_coding_transcript_exon_variant
NA
NA
11
290,494
C
T
false
missense_variant
292
rs3809110
0.000069
0.019071
19.618
missense_variant
missense_variant
ENSG00000142102
0
ENSG00000142102
0
0
ENSG00000142102
missense_variant
ENSG00000142102
934
ENSG00000142102
573
573
ENSG00000142102
missense_variant
NA
NA
11
290,816
A
G
false
synonymous_variant
285
rs10902120
0.004814
0.23855
24.032
synonymous_variant
synonymous_variant
ENSG00000142102
0
ENSG00000142102
0
0
ENSG00000142102
synonymous_variant
ENSG00000142102
1,256
ENSG00000142102
743
743
ENSG00000142102
synonymous_variant
NA
NA
11
299,411
C
G
true
missense_variant
287
rs57285449
1
ALP
0.30381
7.1818
missense_variant
missense_variant
ENSG00000206013
0
ENSG00000142102
3,727
0
ENSG00000206013
missense_variant
ENSG00000206013
114
ENSG00000255533
4,732
114
ENSG00000206013
missense_variant
NA
NA
11
308,065
T
C
true
5_prime_UTR_variant
279
rs9704108
1
Eosino,Plt
0.07494
15.575
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000185201
0
ENSG00000185201
0
0
ENSG00000185201
5_prime_UTR_variant
ENSG00000185201
40
ENSG00000185201
67
40
ENSG00000185201
5_prime_UTR_variant
NA
NA
11
308,314
T
C
true
missense_variant
288
rs14408
0.99431
Neutro,WBC
0.36636
36.226
missense_variant
missense_variant
ENSG00000185201
0
ENSG00000185201
0
0
ENSG00000185201
missense_variant
ENSG00000185201
60
ENSG00000185201
5
5
ENSG00000185201
missense_variant
NA
NA
11
309,127
A
G
true
missense_variant
289
rs1059091
0.99998
Eosino
0.31937
31.828
missense_variant
missense_variant
ENSG00000185201
0
ENSG00000185201
0
0
ENSG00000185201
missense_variant
ENSG00000185201
113
ENSG00000185201
357
113
ENSG00000185201
missense_variant
NA
NA
11
327,873
C
T
false
non_coding_transcript_exon_variant
353
rs7936606
0.000289
0.13161
26.481
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000142089
335
ENSG00000255328
0
0
ENSG00000255328
non_coding_transcript_exon_variant
ENSG00000142089
335
ENSG00000142089
403
335
ENSG00000142089
non_coding_transcript_exon_variant
NA
NA
11
351,053
A
C
false
distal
338
rs11246109
0.000298
0.036125
59.421
intergenic_variant
dELS
ENSG00000182272
18,445
ENSG00000270972
17,364
17,364
ENSG00000270972
dELS
ENSG00000182272
18,445
ENSG00000270972
17,860
17,860
ENSG00000270972
distal
NA
NA
11
352,113
C
T
false
distal
338
rs11246112
0.000354
0.03579
59.277
intergenic_variant
dELS
ENSG00000182272
17,385
ENSG00000182272
17,682
17,385
ENSG00000182272
dELS
ENSG00000182272
17,385
ENSG00000182272
17,682
17,385
ENSG00000182272
distal
NA
NA
11
353,440
G
A
false
distal
337
rs11246115
0.000298
0.035787
57.605
intergenic_variant
dELS
ENSG00000182272
16,058
ENSG00000182272
16,355
16,058
ENSG00000182272
dELS
ENSG00000182272
16,058
ENSG00000182272
16,355
16,058
ENSG00000182272
distal
NA
NA
11
353,543
G
A
false
distal
337
rs11246116
0.000279
0.03578
57.634
intergenic_variant
dELS
ENSG00000182272
15,955
ENSG00000182272
16,252
15,955
ENSG00000182272
dELS
ENSG00000182272
15,955
ENSG00000182272
16,252
15,955
ENSG00000182272
distal
NA
NA
11
376,331
T
A
false
missense_variant
306
rs149045708
0.000102
0.036335
53.644
missense_variant
missense_variant
ENSG00000182272
0
ENSG00000182272
222
0
ENSG00000182272
missense_variant
ENSG00000182272
6,831
ENSG00000182272
869
869
ENSG00000182272
missense_variant
NA
NA
11
407,954
G
C
false
missense_variant
317
rs111819059
0.000081
0.007839
25.291
missense_variant
missense_variant
ENSG00000185187
0
ENSG00000185187
0
0
ENSG00000185187
missense_variant
ENSG00000185187
818
ENSG00000185187
107
107
ENSG00000185187
missense_variant
NA
NA
11
408,174
G
T
true
missense_variant
290
rs117739035
0.97791
Lym
0.036344
23.265
missense_variant
missense_variant
ENSG00000185187
0
ENSG00000185187
0
0
ENSG00000185187
missense_variant
ENSG00000185187
1,038
ENSG00000185187
327
327
ENSG00000185187
missense_variant
NA
NA
11
419,706
T
C
false
missense_variant
290
rs114405390
0.004547
0.034081
25.177
missense_variant
missense_variant
ENSG00000185101
0
ENSG00000185101
0
0
ENSG00000185101
missense_variant
ENSG00000185187
2,308
ENSG00000185101
290
290
ENSG00000185101
missense_variant
NA
NA
11
505,025
T
A
false
non_coding_transcript_exon_variant
353
rs117339389
0.000563
0.13482
218.25
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000023191
28
ENSG00000023191
0
0
ENSG00000023191
non_coding_transcript_exon_variant
ENSG00000023191
472
ENSG00000023191
855
472
ENSG00000023191
non_coding_transcript_exon_variant
NA
NA
11
536,856
G
C
false
5_prime_UTR_variant
283
rs7939028
0.008614
0.20975
203.13
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000174775
0
ENSG00000174775
0
0
ENSG00000174775
5_prime_UTR_variant
ENSG00000174775
430
ENSG00000174775
464
430
ENSG00000174775
5_prime_UTR_variant
NA
NA
11
537,031
G
C
false
5_prime_UTR_variant
283
rs7938775
0.008371
0.20972
203.11
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000174775
0
ENSG00000174775
0
0
ENSG00000174775
5_prime_UTR_variant
ENSG00000174775
255
ENSG00000174775
289
255
ENSG00000174775
5_prime_UTR_variant
NA
NA
11
546,988
C
T
false
distal
387
rs1110056
0.000103
0.097653
78.386
intron_variant
intron_variant
ENSG00000161328
2,207
ENSG00000185522
7,866
2,207
ENSG00000161328
intron_variant
ENSG00000161328
9,460
ENSG00000185522
9,431
9,431
ENSG00000185522
distal
NA
NA
11
547,390
G
A
false
distal
387
rs142164066
0.0001
0.097684
78.376
intron_variant
intron_variant
ENSG00000161328
2,511
ENSG00000185522
7,464
2,511
ENSG00000161328
intron_variant
ENSG00000161328
9,862
ENSG00000185522
9,029
9,029
ENSG00000185522
distal
NA
NA
11
547,433
A
C
false
distal
387
rs113522180
0.000418
0.091066
179.66
intron_variant
intron_variant
ENSG00000161328
2,468
ENSG00000185522
7,421
2,468
ENSG00000161328
intron_variant
ENSG00000161328
9,905
ENSG00000185522
8,986
8,986
ENSG00000185522
distal
NA
NA
11
550,192
C
A
false
missense_variant
316
rs61736743
0.000285
0.008833
68.421
missense_variant
missense_variant
ENSG00000161328
0
ENSG00000185522
4,662
0
ENSG00000161328
missense_variant
ENSG00000185522
9,189
ENSG00000185522
6,227
6,227
ENSG00000185522
missense_variant
NA
NA
11
551,204
C
T
false
missense_variant
311
rs118033321
0.000066
0.037665
82.963
missense_variant
missense_variant
ENSG00000161328
0
ENSG00000185522
3,650
0
ENSG00000161328
missense_variant
ENSG00000185522
8,177
ENSG00000185522
5,215
5,215
ENSG00000185522
missense_variant
NA
NA
11
578,844
C
G
false
distal
345
rs12421646
0.000579
0.23423
240
intron_variant
pELS_flank
ENSG00000070047
2,251
ENSG00000070047
2,251
2,251
ENSG00000070047
pELS_flank
ENSG00000070047
2,322
ENSG00000070047
2,357
2,322
ENSG00000070047
distal
NA
NA
11
587,014
C
T
false
distal
326
rs34265491
0.00722
0.26831
108.74
intron_variant
dELS
ENSG00000070047
244
ENSG00000070047
244
244
ENSG00000070047
dELS
ENSG00000070047
10,492
ENSG00000070047
10,527
10,492
ENSG00000070047
distal
NA
NA
11
617,593
G
C
false
missense_variant
292
rs137998609
0.000776
0.017468
47.414
missense_variant
missense_variant
ENSG00000099834
0
ENSG00000099834
0
0
ENSG00000099834
missense_variant
ENSG00000185507
1,622
ENSG00000185507
1,609
1,609
ENSG00000185507
missense_variant
NA
NA
11
619,789
T
G
false
missense_variant
288
rs2246614
0.00612
0.36787
232.47
missense_variant
missense_variant
ENSG00000099834
0
ENSG00000099834
0
0
ENSG00000099834
missense_variant
ENSG00000185507
3,818
ENSG00000099834
1,347
1,347
ENSG00000099834
missense_variant
NA
NA
11
624,400
C
T
false
missense_variant
290
rs117610069
0.000339
0.038157
56.099
missense_variant
missense_variant
ENSG00000099834
136
ENSG00000099834
0
0
ENSG00000099834
missense_variant
ENSG00000099834
523
ENSG00000099834
531
523
ENSG00000099834
missense_variant
NA
NA
11
639,273
C
A
false
tss_proximal
374
rs7124601
0.00048
0.47775
145.07
intron_variant
pELS
ENSG00000069696
159
ENSG00000069696
114
114
ENSG00000069696
tss_proximal
ENSG00000069696
2,003
ENSG00000069696
215
215
ENSG00000069696
tss_proximal
tss_prox:b2
tss_prox:b1
11
702,962
A
C
false
missense_variant
305
rs199996011
0.000268
0.000074
13.899
missense_variant
missense_variant
ENSG00000177042
0
ENSG00000177042
0
0
ENSG00000177042
missense_variant
ENSG00000177106
2,254
ENSG00000177042
44
44
ENSG00000177042
missense_variant
NA
NA
11
705,297
G
C
false
5_prime_UTR_variant
281
rs28364668
0.009325
0.44371
129.35
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000177106
0
ENSG00000177106
905
0
ENSG00000177106
5_prime_UTR_variant
ENSG00000177106
79
ENSG00000177106
905
79
ENSG00000177106
5_prime_UTR_variant
NA
NA
11
707,025
G
A
false
5_prime_UTR_variant
283
rs76431003
0.000056
0.20422
84.961
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000177030
0
ENSG00000177106
223
0
ENSG00000177030
5_prime_UTR_variant
ENSG00000177030
92
ENSG00000177030
400
92
ENSG00000177030
5_prime_UTR_variant
NA
NA
11
797,834
C
A
false
missense_variant
294
rs112750986
0.000788
0.068871
109.29
missense_variant
missense_variant
ENSG00000288675
0
ENSG00000177542
0
0
ENSG00000288675
missense_variant
ENSG00000177542
160
ENSG00000177542
163
160
ENSG00000177542
missense_variant
NA
NA
11
810,113
G
A
false
5_prime_UTR_variant
279
rs146929030
0.000151
0.077668
32.568
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000177600
0
ENSG00000177600
0
0
ENSG00000177600
5_prime_UTR_variant
ENSG00000177600
128
ENSG00000177600
109
109
ENSG00000177600
5_prime_UTR_variant
NA
NA
11
823,586
C
G
true
missense_variant
291
rs140201358
1
HDLC,WHRadjBMI
0.014013
23.127
missense_variant
missense_variant
ENSG00000177666
0
ENSG00000177666
0
0
ENSG00000177666
missense_variant
ENSG00000177685
2,557
ENSG00000177666
42
42
ENSG00000177666
missense_variant
NA
NA
11
823,809
C
G
false
synonymous_variant
285
rs1135628
0.000592
0.23082
83.175
synonymous_variant
synonymous_variant
ENSG00000177666
0
ENSG00000177666
0
0
ENSG00000177666
synonymous_variant
ENSG00000177685
2,334
ENSG00000177666
160
160
ENSG00000177666
synonymous_variant
NA
NA
11
828,000
T
A
false
5_prime_UTR_variant
282
rs554806535
0.000104
0.011895
42.094
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000177685
0
ENSG00000177685
229
0
ENSG00000177685
5_prime_UTR_variant
ENSG00000177685
80
ENSG00000177685
466
80
ENSG00000177685
5_prime_UTR_variant
NA
NA
11
891,972
T
C
false
distal
342
rs60267393
0.000298
0.084095
52.79
intron_variant
dELS
ENSG00000177830
1,454
ENSG00000177830
1,454
1,454
ENSG00000177830
dELS
ENSG00000177830
8,722
ENSG00000177830
7,808
7,808
ENSG00000177830
distal
NA
NA
11
914,713
C
T
false
5_prime_UTR_variant
284
rs7479978
0.000078
0.005029
13.903
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000177830
0
ENSG00000177830
3,921
0
ENSG00000177830
5_prime_UTR_variant
ENSG00000177830
60
ENSG00000177830
3,921
60
ENSG00000177830
5_prime_UTR_variant
NA
NA
11
915,027
C
T
false
5_prime_UTR_variant
284
rs188091123
0.000096
0.004479
9.6778
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000177830
0
ENSG00000177830
4,235
0
ENSG00000177830
5_prime_UTR_variant
ENSG00000177830
30
ENSG00000177830
4,235
30
ENSG00000177830
5_prime_UTR_variant
NA
NA
11
939,696
C
T
false
distal
387
rs11605412
0.000169
0.090845
87.563
intron_variant
intron_variant
ENSG00000183020
1,038
ENSG00000222561
8,724
1,038
ENSG00000183020
intron_variant
ENSG00000183020
1,038
ENSG00000222561
8,724
1,038
ENSG00000183020
distal
NA
NA
11
1,009,634
T
A
false
tss_proximal
404
rs12787232
0.000286
0.024544
38.862
intron_variant
dELS
ENSG00000183020
48
ENSG00000183020
19
19
ENSG00000183020
tss_proximal
ENSG00000183020
1,552
ENSG00000183020
349
349
ENSG00000183020
tss_proximal
tss_prox:b2
tss_prox:b0
11
1,242,004
A
G
false
synonymous_variant
286
rs56117556
0.000166
0.032921
94.48
synonymous_variant
synonymous_variant
ENSG00000117983
0
ENSG00000255177
256
0
ENSG00000117983
synonymous_variant
ENSG00000117983
15,621
ENSG00000255177
7,671
7,671
ENSG00000255177
synonymous_variant
NA
NA
11
1,242,928
T
C
false
synonymous_variant
286
rs575117127
0.000293
0.033257
288.85
synonymous_variant
synonymous_variant
ENSG00000117983
0
ENSG00000255177
289
0
ENSG00000117983
synonymous_variant
ENSG00000117983
14,697
ENSG00000255177
6,747
6,747
ENSG00000255177
synonymous_variant
NA
NA
11
1,242,970
T
C
false
synonymous_variant
286
rs199592046
0.000255
0.032908
286.95
synonymous_variant
synonymous_variant
ENSG00000117983
0
ENSG00000255177
331
0
ENSG00000117983
synonymous_variant
ENSG00000117983
14,655
ENSG00000255177
6,705
6,705
ENSG00000255177
synonymous_variant
NA
NA
11
1,245,890
G
A
false
missense_variant
311
rs116870693
0.000224
0.033321
288.02
missense_variant
missense_variant
ENSG00000117983
0
ENSG00000255177
3,251
0
ENSG00000117983
missense_variant
ENSG00000117983
11,735
ENSG00000255177
3,785
3,785
ENSG00000255177
missense_variant
NA
NA
11
1,246,059
A
C
false
missense_variant
311
rs184565965
0.00059
0.032908
286.3
missense_variant
missense_variant
ENSG00000117983
0
ENSG00000255177
3,420
0
ENSG00000117983
missense_variant
ENSG00000117983
11,566
ENSG00000255177
3,616
3,616
ENSG00000255177
missense_variant
NA
NA
11
1,246,245
T
C
false
missense_variant
311
rs58125533
0.000282
0.036298
262.25
missense_variant
missense_variant
ENSG00000117983
0
ENSG00000255177
3,375
0
ENSG00000117983
missense_variant
ENSG00000117983
11,380
ENSG00000255177
3,430
3,430
ENSG00000255177
missense_variant
NA
NA
11
1,246,272
C
T
false
missense_variant
310
rs141653894
0.000098
0.056401
98.841
missense_variant
missense_variant
ENSG00000117983
0
ENSG00000255177
3,348
0
ENSG00000117983
missense_variant
ENSG00000117983
11,353
ENSG00000255177
3,403
3,403
ENSG00000255177
missense_variant
NA
NA
11
1,246,332
C
T
false
missense_variant
287
rs60268710
0.000249
0.31097
146.77
missense_variant
missense_variant
ENSG00000117983
0
ENSG00000255177
3,288
0
ENSG00000117983
missense_variant
ENSG00000117983
11,293
ENSG00000255177
3,343
3,343
ENSG00000255177
missense_variant
NA
NA
11
1,246,742
A
G
false
missense_variant
311
rs75101148
0.001012
0.050415
35.57
missense_variant
missense_variant
ENSG00000117983
0
ENSG00000255177
2,878
0
ENSG00000117983
missense_variant
ENSG00000117983
10,883
ENSG00000255177
2,933
2,933
ENSG00000255177
missense_variant
NA
NA
11
1,300,366
G
A
false
distal
341
rs5743915
0.005879
0.42247
105.11
intron_variant
dELS
ENSG00000078902
2,217
ENSG00000078902
1,801
1,801
ENSG00000078902
dELS
ENSG00000078902
2,423
ENSG00000078902
5,827
2,423
ENSG00000078902
distal
NA
NA
11
1,338,880
G
A
false
distal
398
rs72846402
0.000566
0.17694
94.39
intergenic_variant
pELS
ENSG00000078902
29,225
ENSG00000287935
1,811
1,811
ENSG00000287935
pELS
ENSG00000078902
29,225
ENSG00000287935
1,811
1,811
ENSG00000287935
distal
NA
NA
11
1,351,781
C
T
false
distal
398
rs12787736
0.000248
0.15879
70.599
intron_variant
pELS
ENSG00000174672
38,117
ENSG00000285985
1,018
1,018
ENSG00000285985
pELS
ENSG00000174672
38,117
ENSG00000285985
1,421
1,421
ENSG00000285985
distal
NA
NA
11
1,351,798
G
C
false
distal
398
rs111441270
0.000489
0.17415
93.518
intron_variant
pELS
ENSG00000174672
38,100
ENSG00000285985
1,035
1,035
ENSG00000285985
pELS
ENSG00000174672
38,100
ENSG00000285985
1,438
1,438
ENSG00000285985
distal
NA
NA
11
1,397,647
A
C
false
distal
322
rs11822087
0.005568
0.25795
117.37
intron_variant
dELS
ENSG00000174672
7,271
ENSG00000174672
7,271
7,271
ENSG00000174672
dELS
ENSG00000174672
7,361
ENSG00000174672
7,745
7,361
ENSG00000174672
distal
NA
NA
11
1,531,388
C
T
false
distal
344
rs140145600
0.000629
0.002183
22.165
intergenic_variant
dELS
ENSG00000184545
22,662
ENSG00000184545
26,134
22,662
ENSG00000184545
dELS
ENSG00000184545
34,547
ENSG00000184545
28,054
28,054
ENSG00000184545
distal
NA
NA
11
1,643,216
C
T
false
distal
319
rs34311908
0.001129
0.017491
29.443
intergenic_variant
dELS
ENSG00000185940
12,285
ENSG00000231487
19,367
12,285
ENSG00000185940
dELS
ENSG00000185940
13,440
ENSG00000231487
20,126
13,440
ENSG00000185940
distal
NA
NA
11
1,739,326
G
T
false
distal
402
rs7938305
0.00238
0.25464
99.55
intron_variant
CA-TF
ENSG00000250644
3,896
ENSG00000244242
3,896
3,896
ENSG00000250644
CA-TF
ENSG00000244242
11,268
ENSG00000244242
9,775
9,775
ENSG00000244242
distal
NA
NA
11
1,750,567
T
C
false
5_prime_UTR_variant
278
rs3740621
0.000788
0.23776
103.67
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000244242
0
ENSG00000244242
0
0
ENSG00000244242
5_prime_UTR_variant
ENSG00000244242
27
ENSG00000244242
12
12
ENSG00000244242
5_prime_UTR_variant
NA
NA
11
1,765,022
A
G
false
tss_proximal
376
rs151061511
0.000066
0.02066
15.24
upstream_gene_variant
PLS_flank
ENSG00000117984
448
ENSG00000117984
1,057
448
ENSG00000117984
tss_proximal
ENSG00000117984
448
ENSG00000117984
1,057
448
ENSG00000117984
tss_proximal
tss_prox:b1
tss_prox:b1
11
1,835,114
C
A
false
missense_variant
290
rs57344881
0.000094
0.035554
11.614
missense_variant
missense_variant
ENSG00000149043
0
ENSG00000149043
0
0
ENSG00000149043
missense_variant
ENSG00000149043
123
ENSG00000149043
7
7
ENSG00000149043
missense_variant
NA
NA
11
1,852,991
C
T
true
5_prime_UTR_variant
280
rs907612
0.99991
Mono
0.3798
39.137
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000130592
0
ENSG00000264493
6,472
0
ENSG00000130592
5_prime_UTR_variant
ENSG00000130592
92
ENSG00000264493
6,544
92
ENSG00000130592
5_prime_UTR_variant
NA
NA
11
1,870,054
T
A
false
tss_proximal
355
rs688601
0.001903
0.45798
50.129
intron_variant
PLS
ENSG00000130592
95
ENSG00000130592
1,297
95
ENSG00000130592
tss_proximal
ENSG00000130592
95
ENSG00000130592
1,297
95
ENSG00000130592
tss_proximal
tss_prox:b0
tss_prox:b0
11
1,962,278
C
T
false
missense_variant
316
rs117979807
0.000061
0.008533
11.451
missense_variant
missense_variant
ENSG00000214026
0
ENSG00000214026
5,668
0
ENSG00000214026
missense_variant
ENSG00000214026
14,933
ENSG00000214026
6,700
6,700
ENSG00000214026
missense_variant
NA
NA
11
2,144,346
G
A
true
distal
318
rs35506085
0.99897
Height
0.18271
60.271
intron_variant
dELS
ENSG00000129965
2,279
ENSG00000099869
1,898
1,898
ENSG00000099869
dELS
ENSG00000167244
3,107
ENSG00000099869
3,701
3,107
ENSG00000167244
distal
NA
NA
11
2,156,139
C
T
true
distal
345
rs11564725
0.95052
HbA1c
0.23563
63.955
intron_variant
pELS_flank
ENSG00000167244
2,127
ENSG00000167244
2,127
2,127
ENSG00000167244
pELS_flank
ENSG00000167244
2,251
ENSG00000167244
2,196
2,196
ENSG00000167244
distal
NA
NA
11
2,169,721
C
T
false
missense_variant
288
rs6356
0.007604
0.36015
51.27
missense_variant
missense_variant
ENSG00000180176
0
ENSG00000180176
25
0
ENSG00000180176
missense_variant
ENSG00000180176
1,614
ENSG00000180176
994
994
ENSG00000180176
missense_variant
NA
NA
11
2,300,463
T
A
false
distal
401
rs79719714
0.000079
0.010878
27.32
intron_variant
pELS
ENSG00000110665
56
ENSG00000110665
220
56
ENSG00000110665
pELS
ENSG00000110665
1,449
ENSG00000110665
1,408
1,408
ENSG00000110665
distal
NA
NA
11
2,301,792
C
T
false
missense_variant
288
rs12276847
0.000274
0.36207
56.95
missense_variant
missense_variant
ENSG00000110665
0
ENSG00000110665
0
0
ENSG00000110665
missense_variant
ENSG00000110665
120
ENSG00000110665
79
79
ENSG00000110665
missense_variant
NA
NA
11
2,301,799
T
C
false
missense_variant
294
rs756924
0.006218
0.06809
95.075
missense_variant
missense_variant
ENSG00000110665
0
ENSG00000110665
0
0
ENSG00000110665
missense_variant
ENSG00000110665
113
ENSG00000110665
72
72
ENSG00000110665
missense_variant
NA
NA
11
2,304,197
T
C
true
missense_variant
292
rs61744929
0.99663
Hb,Mono,Neutro
0.019341
13.73
missense_variant
missense_variant
ENSG00000064201
0
ENSG00000064201
0
0
ENSG00000064201
missense_variant
ENSG00000064201
1,328
ENSG00000110665
1,147
1,147
ENSG00000110665
missense_variant
NA
NA
11
2,304,478
C
T
false
distal
401
rs145841753
0.000105
0.012034
6.6786
intron_variant
pELS
ENSG00000064201
273
ENSG00000064201
273
273
ENSG00000064201
pELS
ENSG00000064201
1,609
ENSG00000110665
1,428
1,428
ENSG00000110665
distal
NA
NA
11
2,385,748
G
A
false
5_prime_UTR_variant
284
rs74048500
0.000207
0.00627
111.63
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000110651
0
ENSG00000110651
4,354
0
ENSG00000110651
5_prime_UTR_variant
ENSG00000110651
81
ENSG00000110651
4,354
81
ENSG00000110651
5_prime_UTR_variant
NA
NA
11
2,400,164
T
C
false
tss_proximal
380
rs800351
0.00091
0.14671
101.05
upstream_gene_variant
PLS_flank
ENSG00000184281
323
ENSG00000110651
2,767
323
ENSG00000184281
tss_proximal
ENSG00000184281
323
ENSG00000184281
2,936
323
ENSG00000184281
tss_proximal
tss_prox:b1
tss_prox:b1
11
2,662,127
A
G
false
non_coding_transcript_exon_variant
348
rs760419
0.000939
0.46681
17.16
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000053918
45
ENSG00000269821
0
0
ENSG00000269821
non_coding_transcript_exon_variant
ENSG00000053918
115,447
ENSG00000275666
10,027
10,027
ENSG00000275666
non_coding_transcript_exon_variant
NA
NA
11
2,670,241
A
G
true
non_coding_transcript_exon_variant
348
rs231362
0.946385
Glucose
0.47659
27.094
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000053918
8,159
ENSG00000269821
0
0
ENSG00000269821
non_coding_transcript_exon_variant
ENSG00000053918
107,333
ENSG00000276105
3,855
3,855
ENSG00000276105
non_coding_transcript_exon_variant
NA
NA
11
2,681,283
C
T
false
non_coding_transcript_exon_variant
348
rs231358
0.003607
0.47675
40.452
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000053918
19,201
ENSG00000269821
0
0
ENSG00000269821
non_coding_transcript_exon_variant
ENSG00000053918
96,291
ENSG00000276494
6,657
6,657
ENSG00000276494
non_coding_transcript_exon_variant
NA
NA