chrom
stringclasses
19 values
pos
int64
90.7k
249M
ref
stringclasses
4 values
alt
stringclasses
4 values
OMIM
stringclasses
113 values
consequence
stringclasses
12 values
label
bool
2 classes
tss_dist
int64
0
372k
match_group
stringclasses
338 values
2
216,886,527
T
C
null
non_coding_transcript_exon_variant
false
26,462
non_coding_transcript_exon_variant_19
2
216,886,823
A
G
null
non_coding_transcript_exon_variant
false
26,758
non_coding_transcript_exon_variant_22
2
218,660,148
A
G
MIM 124000
5_prime_UTR_variant
true
110
5_prime_UTR_variant_80
2
219,434,819
G
T
null
PLS
false
23
PLS_39
2
223,982,551
T
C
null
non_coding_transcript_exon_variant
false
25,087
non_coding_transcript_exon_variant_22
2
227,718,030
G
A
null
PLS
false
1
PLS_41
2
229,714,567
G
C
null
PLS
false
11
PLS_40
2
230,176,390
A
G
null
non_coding_transcript_exon_variant
false
26,719
non_coding_transcript_exon_variant_22
2
230,178,086
C
T
null
non_coding_transcript_exon_variant
false
25,023
non_coding_transcript_exon_variant_22
2
231,198,864
G
A
null
5_prime_UTR_variant
false
110
5_prime_UTR_variant_80
2
231,504,194
A
G
null
non_coding_transcript_exon_variant
false
26,250
non_coding_transcript_exon_variant_15
2
231,530,546
T
C
null
PLS
false
100
PLS_37
2
232,487,838
G
T
null
PLS
false
3
PLS_41
2
232,857,383
C
T
null
5_prime_UTR_variant
false
112
5_prime_UTR_variant_80
2
233,277,353
G
A
null
non_coding_transcript_exon_variant
false
25,638
non_coding_transcript_exon_variant_10
2
233,464,121
T
C
null
non_coding_transcript_exon_variant
false
25,339
non_coding_transcript_exon_variant_17
2
233,854,579
T
C
null
PLS
false
12
PLS_40
2
233,854,580
C
T
null
PLS
false
13
PLS_40
2
237,059,481
A
C
null
non_coding_transcript_exon_variant
false
26,400
non_coding_transcript_exon_variant_18
2
237,059,484
T
A
null
non_coding_transcript_exon_variant
false
26,397
non_coding_transcript_exon_variant_18
2
237,059,571
A
G
null
non_coding_transcript_exon_variant
false
26,310
non_coding_transcript_exon_variant_16
2
237,059,663
G
A
null
non_coding_transcript_exon_variant
false
26,218
non_coding_transcript_exon_variant_15
2
237,059,667
T
C
null
non_coding_transcript_exon_variant
false
26,214
non_coding_transcript_exon_variant_14
2
237,059,702
A
G
null
non_coding_transcript_exon_variant
false
26,179
non_coding_transcript_exon_variant_14
2
237,059,754
T
A
null
non_coding_transcript_exon_variant
false
26,127
non_coding_transcript_exon_variant_13
2
237,059,778
C
T
null
non_coding_transcript_exon_variant
false
26,103
non_coding_transcript_exon_variant_13
2
237,059,791
T
C
null
non_coding_transcript_exon_variant
false
26,090
non_coding_transcript_exon_variant_12
2
237,487,228
G
A
null
PLS
false
22
PLS_38
2
237,590,891
C
T
null
5_prime_UTR_variant
false
110
5_prime_UTR_variant_80
2
237,692,142
A
G
null
PLS
false
2
PLS_41
2
238,035,617
A
G
null
non_coding_transcript_exon_variant
false
25,306
non_coding_transcript_exon_variant_17
2
238,035,722
G
A
null
non_coding_transcript_exon_variant
false
25,201
non_coding_transcript_exon_variant_20
2
239,115,336
G
A
null
non_coding_transcript_exon_variant
false
25,636
non_coding_transcript_exon_variant_10
2
240,109,731
A
G
null
non_coding_transcript_exon_variant
false
26,573
non_coding_transcript_exon_variant_20
2
240,144,550
C
A
null
5_prime_UTR_variant
false
11
5_prime_UTR_variant_82
2
240,586,750
G
A
null
5_prime_UTR_variant
false
10
5_prime_UTR_variant_82
2
240,691,850
A
G
null
PLS
false
15
PLS_39
2
241,592,107
G
A
null
non_coding_transcript_exon_variant
false
25,382
non_coding_transcript_exon_variant_16
2
241,592,250
G
A
null
non_coding_transcript_exon_variant
false
25,239
non_coding_transcript_exon_variant_19
2
241,687,064
C
T
null
PLS
false
20
PLS_38
3
213,423
A
G
null
non_coding_transcript_exon_variant
false
4,111
non_coding_transcript_exon_variant_41
3
384,380
A
C
null
non_coding_transcript_exon_variant
false
5,064
non_coding_transcript_exon_variant_36
3
3,179,746
C
T
null
PLS
false
18
PLS_46
3
3,804,151
T
C
null
non_coding_transcript_exon_variant
false
4,719
non_coding_transcript_exon_variant_28
3
4,303,349
G
A
null
5_prime_UTR_variant
false
11
5_prime_UTR_variant_86
3
8,497,554
T
C
null
non_coding_transcript_exon_variant
false
4,252
non_coding_transcript_exon_variant_37
3
9,787,487
G
A
null
non_coding_transcript_exon_variant
false
4,985
non_coding_transcript_exon_variant_29
3
9,787,542
A
C
null
non_coding_transcript_exon_variant
false
4,930
non_coding_transcript_exon_variant_24
3
10,005,996
A
G
null
non_coding_transcript_exon_variant
false
5,119
non_coding_transcript_exon_variant_41
3
10,006,291
C
G
null
non_coding_transcript_exon_variant
false
4,824
non_coding_transcript_exon_variant_26
3
10,006,818
C
T
null
non_coding_transcript_exon_variant
false
4,297
non_coding_transcript_exon_variant_36
3
10,006,917
A
G
null
non_coding_transcript_exon_variant
false
4,198
non_coding_transcript_exon_variant_38
3
10,007,155
C
G
null
non_coding_transcript_exon_variant
false
3,960
non_coding_transcript_exon_variant_45
3
10,007,201
G
T
null
non_coding_transcript_exon_variant
false
3,914
non_coding_transcript_exon_variant_46
3
10,015,520
C
T
null
non_coding_transcript_exon_variant
false
4,336
non_coding_transcript_exon_variant_35
3
10,248,460
T
C
null
5_prime_UTR_variant
false
0
5_prime_UTR_variant_87
3
10,707,959
C
T
null
5_prime_UTR_variant
false
47
5_prime_UTR_variant_85
3
11,015,683
G
A
null
5_prime_UTR_variant
false
0
5_prime_UTR_variant_87
3
11,021,248
G
A
null
non_coding_transcript_exon_variant
false
3,844
non_coding_transcript_exon_variant_48
3
11,021,488
A
G
null
non_coding_transcript_exon_variant
false
4,084
non_coding_transcript_exon_variant_41
3
11,021,859
G
A
null
non_coding_transcript_exon_variant
false
4,455
non_coding_transcript_exon_variant_33
3
12,484,507
G
A
null
5_prime_UTR_variant
false
1
5_prime_UTR_variant_87
3
12,551,920
A
T
null
non_coding_transcript_exon_variant
false
5,166
non_coding_transcript_exon_variant_43
3
12,599,926
T
C
null
non_coding_transcript_exon_variant
false
4,362
non_coding_transcript_exon_variant_34
3
12,600,019
A
G
null
non_coding_transcript_exon_variant
false
4,269
non_coding_transcript_exon_variant_37
3
12,832,445
A
G
null
non_coding_transcript_exon_variant
false
4,998
non_coding_transcript_exon_variant_29
3
14,943,005
T
C
null
non_coding_transcript_exon_variant
false
4,577
non_coding_transcript_exon_variant_31
3
14,943,110
C
A
null
non_coding_transcript_exon_variant
false
4,472
non_coding_transcript_exon_variant_32
3
14,943,694
G
A
null
non_coding_transcript_exon_variant
false
3,888
non_coding_transcript_exon_variant_47
3
14,947,778
C
T
null
5_prime_UTR_variant
false
48
5_prime_UTR_variant_85
3
15,444,611
T
C
null
non_coding_transcript_exon_variant
false
4,044
non_coding_transcript_exon_variant_43
3
15,503,022
G
A
null
non_coding_transcript_exon_variant
false
4,149
non_coding_transcript_exon_variant_39
3
15,503,598
C
T
null
non_coding_transcript_exon_variant
false
4,725
non_coding_transcript_exon_variant_28
3
15,503,703
C
T
null
non_coding_transcript_exon_variant
false
4,830
non_coding_transcript_exon_variant_26
3
15,503,968
C
G
null
non_coding_transcript_exon_variant
false
5,095
non_coding_transcript_exon_variant_39
3
15,606,497
T
C
null
non_coding_transcript_exon_variant
false
4,527
non_coding_transcript_exon_variant_31
3
16,513,716
C
T
null
PLS
false
16
PLS_46
3
19,951,890
C
T
null
non_coding_transcript_exon_variant
false
4,484
non_coding_transcript_exon_variant_32
3
19,952,058
T
C
null
non_coding_transcript_exon_variant
false
4,652
non_coding_transcript_exon_variant_29
3
19,952,181
A
T
null
non_coding_transcript_exon_variant
false
4,775
non_coding_transcript_exon_variant_27
3
19,952,211
A
G
null
non_coding_transcript_exon_variant
false
4,805
non_coding_transcript_exon_variant_26
3
25,777,784
G
A
null
non_coding_transcript_exon_variant
false
5,087
non_coding_transcript_exon_variant_38
3
25,778,381
T
C
null
non_coding_transcript_exon_variant
false
4,490
non_coding_transcript_exon_variant_32
3
26,618,403
T
C
null
non_coding_transcript_exon_variant
false
4,368
non_coding_transcript_exon_variant_34
3
32,391,841
C
A
null
5_prime_UTR_variant
false
11
5_prime_UTR_variant_86
3
33,794,249
C
T
null
non_coding_transcript_exon_variant
false
4,321
non_coding_transcript_exon_variant_35
3
33,794,416
T
C
null
non_coding_transcript_exon_variant
false
4,154
non_coding_transcript_exon_variant_39
3
36,768,539
G
A
null
non_coding_transcript_exon_variant
false
3,985
non_coding_transcript_exon_variant_44
3
36,769,140
C
T
null
non_coding_transcript_exon_variant
false
4,586
non_coding_transcript_exon_variant_30
3
36,993,441
C
G
MIM 609310
5_prime_UTR_variant
true
47
5_prime_UTR_variant_85
3
36,993,506
C
T
MIM 609310
5_prime_UTR_variant
true
11
5_prime_UTR_variant_86
3
36,993,521
C
A
MIM 609310
5_prime_UTR_variant
true
1
5_prime_UTR_variant_87
3
37,017,018
A
G
null
PLS
false
3,370
PLS_47
3
37,170,481
T
C
null
non_coding_transcript_exon_variant
false
4,100
non_coding_transcript_exon_variant_41
3
37,969,217
T
C
null
PLS
false
4,579
PLS_47
3
37,969,336
A
C
null
PLS
false
4,698
PLS_47
3
38,270,462
C
T
null
non_coding_transcript_exon_variant
false
4,649
non_coding_transcript_exon_variant_29
3
39,102,108
G
C
null
non_coding_transcript_exon_variant
false
5,031
non_coding_transcript_exon_variant_35
3
39,149,284
A
G
null
non_coding_transcript_exon_variant
false
4,306
non_coding_transcript_exon_variant_35
3
39,149,451
C
T
null
non_coding_transcript_exon_variant
false
4,139
non_coding_transcript_exon_variant_39