songlab/omim_traitgym · Datasets at Hugging Face

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	108,352,392	A	C	null	non_coding_transcript_exon_variant	false	25,561	non_coding_transcript_exon_variant_12
2	108,352,394	C	T	null	non_coding_transcript_exon_variant	false	25,559	non_coding_transcript_exon_variant_13
2	108,352,653	C	T	null	non_coding_transcript_exon_variant	false	25,300	non_coding_transcript_exon_variant_17
2	108,423,739	T	A	null	non_coding_transcript_exon_variant	false	25,367	non_coding_transcript_exon_variant_16
2	108,498,235	T	A	null	non_coding_transcript_exon_variant	false	26,389	non_coding_transcript_exon_variant_18
2	108,882,541	T	C	null	non_coding_transcript_exon_variant	false	25,612	non_coding_transcript_exon_variant_11
2	108,882,581	A	G	null	non_coding_transcript_exon_variant	false	25,652	non_coding_transcript_exon_variant_10
2	110,164,265	G	A	null	5_prime_UTR_variant	false	4,188	5_prime_UTR_variant_81
2	115,135,576	C	T	null	non_coding_transcript_exon_variant	false	26,025	non_coding_transcript_exon_variant_11
2	115,136,361	A	G	null	non_coding_transcript_exon_variant	false	25,240	non_coding_transcript_exon_variant_18
2	115,136,379	G	A	null	non_coding_transcript_exon_variant	false	25,222	non_coding_transcript_exon_variant_19
2	115,136,505	T	C	null	non_coding_transcript_exon_variant	false	25,096	non_coding_transcript_exon_variant_21
2	118,088,372	G	A	null	PLS	false	98	PLS_37
2	119,249,015	G	A	null	non_coding_transcript_exon_variant	false	25,161	non_coding_transcript_exon_variant_21
2	119,367,787	C	A	null	5_prime_UTR_variant	false	109	5_prime_UTR_variant_80
2	120,709,349	C	G	null	non_coding_transcript_exon_variant	false	26,273	non_coding_transcript_exon_variant_16
2	120,709,408	T	G	null	non_coding_transcript_exon_variant	false	26,214	non_coding_transcript_exon_variant_14
2	120,710,331	G	C	null	non_coding_transcript_exon_variant	false	25,291	non_coding_transcript_exon_variant_18
2	121,530,453	T	C	null	non_coding_transcript_exon_variant	false	25,359	non_coding_transcript_exon_variant_16
2	121,530,887	C	T	MIM 616651	non_coding_transcript_exon_variant	true	25,793	non_coding_transcript_exon_variant_8
2	121,530,892	C	T	MIM 616651	non_coding_transcript_exon_variant	true	25,798	non_coding_transcript_exon_variant_9
2	121,530,909	G	A	MIM 210710	non_coding_transcript_exon_variant	true	25,815	non_coding_transcript_exon_variant_10
2	121,530,916	G	A	MIM 616651	non_coding_transcript_exon_variant	true	25,822	non_coding_transcript_exon_variant_11
2	121,530,925	G	A	MIM 210710	non_coding_transcript_exon_variant	true	25,831	non_coding_transcript_exon_variant_12
2	121,530,927	G	A	MIM 616651	non_coding_transcript_exon_variant	true	25,833	non_coding_transcript_exon_variant_13
2	121,530,929	G	A	MIM 210710	non_coding_transcript_exon_variant	true	25,835	non_coding_transcript_exon_variant_14
2	121,530,929	G	C	MIM 210710	non_coding_transcript_exon_variant	true	25,835	non_coding_transcript_exon_variant_15
2	121,530,930	G	A	MIM 210710	non_coding_transcript_exon_variant	true	25,836	non_coding_transcript_exon_variant_16
2	121,530,932	C	G	MIM 210710	non_coding_transcript_exon_variant	true	25,838	non_coding_transcript_exon_variant_17
2	121,530,934	G	A	MIM 210710	non_coding_transcript_exon_variant	true	25,840	non_coding_transcript_exon_variant_18
2	121,530,945	G	C	MIM 210710	non_coding_transcript_exon_variant	true	25,851	non_coding_transcript_exon_variant_19
2	121,530,990	G	A	MIM 210710	non_coding_transcript_exon_variant	true	25,896	non_coding_transcript_exon_variant_20
2	121,530,997	T	C	MIM 616651	non_coding_transcript_exon_variant	true	25,903	non_coding_transcript_exon_variant_21
2	121,531,003	G	A	MIM 210710	non_coding_transcript_exon_variant	true	25,909	non_coding_transcript_exon_variant_22
2	127,418,407	A	G	MIM 612304	PLS	true	19	PLS_38
2	127,418,408	A	G	MIM 612304	PLS	true	18	PLS_39
2	127,418,412	T	A	MIM 176860	PLS	true	14	PLS_40
2	127,418,425	T	C	MIM 176860	PLS	true	1	PLS_41
2	127,467,652	A	G	null	non_coding_transcript_exon_variant	false	25,723	non_coding_transcript_exon_variant_8
2	127,649,924	G	A	null	PLS	false	14	PLS_39
2	130,129,236	C	T	null	PLS	false	13	PLS_40
2	130,703,101	G	A	null	non_coding_transcript_exon_variant	false	25,968	non_coding_transcript_exon_variant_10
2	130,703,174	G	A	null	non_coding_transcript_exon_variant	false	25,895	non_coding_transcript_exon_variant_9
2	131,476,103	G	A	null	PLS	false	15	PLS_39
2	131,555,132	G	A	null	non_coding_transcript_exon_variant	false	25,950	non_coding_transcript_exon_variant_10
2	134,865,238	C	T	null	non_coding_transcript_exon_variant	false	26,619	non_coding_transcript_exon_variant_20
2	134,865,290	T	C	null	non_coding_transcript_exon_variant	false	26,671	non_coding_transcript_exon_variant_21
2	149,005,165	G	A	null	non_coding_transcript_exon_variant	false	26,719	non_coding_transcript_exon_variant_22
2	151,289,680	G	C	null	5_prime_UTR_variant	false	11	5_prime_UTR_variant_82
2	152,124,339	T	A	null	non_coding_transcript_exon_variant	false	25,171	non_coding_transcript_exon_variant_21
2	153,944,486	T	C	null	5_prime_UTR_variant	false	11	5_prime_UTR_variant_82
2	159,458,577	A	G	null	non_coding_transcript_exon_variant	false	25,626	non_coding_transcript_exon_variant_11
2	159,458,614	C	T	null	non_coding_transcript_exon_variant	false	25,663	non_coding_transcript_exon_variant_9
2	159,459,052	G	A	null	non_coding_transcript_exon_variant	false	26,101	non_coding_transcript_exon_variant_12
2	159,459,380	T	C	null	non_coding_transcript_exon_variant	false	26,429	non_coding_transcript_exon_variant_18
2	159,459,588	C	T	null	non_coding_transcript_exon_variant	false	26,637	non_coding_transcript_exon_variant_21
2	159,798,257	G	A	null	PLS	false	1	PLS_41
2	159,798,279	G	T	null	PLS	false	23	PLS_38
2	161,651,113	C	T	null	non_coding_transcript_exon_variant	false	26,651	non_coding_transcript_exon_variant_21
2	165,267,007	A	G	null	non_coding_transcript_exon_variant	false	25,946	non_coding_transcript_exon_variant_10
2	165,267,091	G	A	null	non_coding_transcript_exon_variant	false	26,030	non_coding_transcript_exon_variant_11
2	165,267,319	C	A	null	non_coding_transcript_exon_variant	false	26,258	non_coding_transcript_exon_variant_15
2	165,267,397	G	T	null	non_coding_transcript_exon_variant	false	26,336	non_coding_transcript_exon_variant_17
2	165,267,504	T	C	null	non_coding_transcript_exon_variant	false	26,443	non_coding_transcript_exon_variant_19
2	165,267,541	T	C	null	non_coding_transcript_exon_variant	false	26,480	non_coding_transcript_exon_variant_19
2	165,267,557	G	A	null	non_coding_transcript_exon_variant	false	26,473	non_coding_transcript_exon_variant_19
2	165,267,709	G	A	null	non_coding_transcript_exon_variant	false	26,321	non_coding_transcript_exon_variant_16
2	165,268,464	A	G	null	non_coding_transcript_exon_variant	false	25,566	non_coding_transcript_exon_variant_12
2	165,268,571	C	T	null	non_coding_transcript_exon_variant	false	25,459	non_coding_transcript_exon_variant_14
2	165,268,709	C	T	null	non_coding_transcript_exon_variant	false	25,321	non_coding_transcript_exon_variant_17
2	165,268,829	T	A	null	non_coding_transcript_exon_variant	false	25,201	non_coding_transcript_exon_variant_20
2	165,268,991	A	G	null	non_coding_transcript_exon_variant	false	25,039	non_coding_transcript_exon_variant_22
2	166,077,764	C	T	null	5_prime_UTR_variant	false	4,093	5_prime_UTR_variant_81
2	169,694,453	G	A	null	PLS	false	0	PLS_41
2	169,733,812	T	C	null	PLS	false	19	PLS_38
2	170,741,097	C	T	null	non_coding_transcript_exon_variant	false	25,759	non_coding_transcript_exon_variant_8
2	170,741,184	A	T	null	non_coding_transcript_exon_variant	false	25,846	non_coding_transcript_exon_variant_8
2	171,522,147	T	G	null	PLS	false	99	PLS_37
2	176,130,011	G	A	null	5_prime_UTR_variant	false	10	5_prime_UTR_variant_82
2	176,242,828	A	G	null	non_coding_transcript_exon_variant	false	26,613	non_coding_transcript_exon_variant_20
2	177,283,742	A	T	null	5_prime_UTR_variant	false	4,034	5_prime_UTR_variant_81
2	178,451,344	C	T	null	PLS	false	1	PLS_41
2	178,480,456	C	T	null	PLS	false	0	PLS_41
2	179,264,718	G	T	null	5_prime_UTR_variant	false	113	5_prime_UTR_variant_80
2	186,625,644	T	G	null	non_coding_transcript_exon_variant	false	25,438	non_coding_transcript_exon_variant_15
2	186,625,662	G	T	null	non_coding_transcript_exon_variant	false	25,456	non_coding_transcript_exon_variant_15
2	186,626,413	G	A	null	non_coding_transcript_exon_variant	false	26,207	non_coding_transcript_exon_variant_14
2	196,068,375	C	G	null	5_prime_UTR_variant	false	111	5_prime_UTR_variant_80
2	196,292,194	T	C	null	non_coding_transcript_exon_variant	false	26,502	non_coding_transcript_exon_variant_20
2	196,292,514	C	T	null	non_coding_transcript_exon_variant	false	26,182	non_coding_transcript_exon_variant_14
2	200,688,715	T	G	null	non_coding_transcript_exon_variant	false	25,807	non_coding_transcript_exon_variant_8
2	201,257,992	T	G	null	5_prime_UTR_variant	false	11	5_prime_UTR_variant_82
2	207,166,747	C	T	null	PLS	false	99	PLS_37
2	210,028,470	C	T	null	non_coding_transcript_exon_variant	false	25,812	non_coding_transcript_exon_variant_8
2	210,476,875	G	T	null	PLS	false	99	PLS_37
2	215,462,339	A	G	null	non_coding_transcript_exon_variant	false	26,265	non_coding_transcript_exon_variant_15
2	216,886,095	T	C	null	non_coding_transcript_exon_variant	false	26,030	non_coding_transcript_exon_variant_11
2	216,886,163	A	G	null	non_coding_transcript_exon_variant	false	26,098	non_coding_transcript_exon_variant_12
2	216,886,225	C	T	null	non_coding_transcript_exon_variant	false	26,160	non_coding_transcript_exon_variant_14
2	216,886,331	C	T	null	non_coding_transcript_exon_variant	false	26,266	non_coding_transcript_exon_variant_15

2

108,352,392

A

C

null

non_coding_transcript_exon_variant

false

25,561

non_coding_transcript_exon_variant_12

2

108,352,394

C

T

null

non_coding_transcript_exon_variant

false

25,559

non_coding_transcript_exon_variant_13

2

108,352,653

C

T

null

non_coding_transcript_exon_variant

false

25,300

non_coding_transcript_exon_variant_17

2

108,423,739

T

A

null

non_coding_transcript_exon_variant

false

25,367

non_coding_transcript_exon_variant_16

2

108,498,235

T

A

null

non_coding_transcript_exon_variant

false

26,389

non_coding_transcript_exon_variant_18

2

108,882,541

T

C

null

non_coding_transcript_exon_variant

false

25,612

non_coding_transcript_exon_variant_11

2

108,882,581

A

G

null

non_coding_transcript_exon_variant

false

25,652

non_coding_transcript_exon_variant_10

2

110,164,265

G

A

null

5_prime_UTR_variant

false

4,188

5_prime_UTR_variant_81

2

115,135,576

C

T

null

non_coding_transcript_exon_variant

false

26,025

non_coding_transcript_exon_variant_11

2

115,136,361

A

G

null

non_coding_transcript_exon_variant

false

25,240

non_coding_transcript_exon_variant_18

2

115,136,379

G

A

null

non_coding_transcript_exon_variant

false

25,222

non_coding_transcript_exon_variant_19

2

115,136,505

T

C

null

non_coding_transcript_exon_variant

false

25,096

non_coding_transcript_exon_variant_21

2

118,088,372

G

A

null

PLS

false

98

PLS_37

2

119,249,015

G

A

null

non_coding_transcript_exon_variant

false

25,161

non_coding_transcript_exon_variant_21

2

119,367,787

C

A

null

5_prime_UTR_variant

false

109

5_prime_UTR_variant_80

2

120,709,349

C

G

null

non_coding_transcript_exon_variant

false

26,273

non_coding_transcript_exon_variant_16

2

120,709,408

T

G

null

non_coding_transcript_exon_variant

false

26,214

non_coding_transcript_exon_variant_14

2

120,710,331

G

C

null

non_coding_transcript_exon_variant

false

25,291

non_coding_transcript_exon_variant_18

2

121,530,453

T

C

null

non_coding_transcript_exon_variant

false

25,359

non_coding_transcript_exon_variant_16

2

121,530,887

C

T

MIM 616651

non_coding_transcript_exon_variant

true

25,793

non_coding_transcript_exon_variant_8

2

121,530,892

C

T

MIM 616651

non_coding_transcript_exon_variant

true

25,798

non_coding_transcript_exon_variant_9

2

121,530,909

G

A

MIM 210710

non_coding_transcript_exon_variant

true

25,815

non_coding_transcript_exon_variant_10

2

121,530,916

G

A

MIM 616651

non_coding_transcript_exon_variant

true

25,822

non_coding_transcript_exon_variant_11

2

121,530,925

G

A

MIM 210710

non_coding_transcript_exon_variant

true

25,831

non_coding_transcript_exon_variant_12

2

121,530,927

G

A

MIM 616651

non_coding_transcript_exon_variant

true

25,833

non_coding_transcript_exon_variant_13

2

121,530,929

G

A

MIM 210710

non_coding_transcript_exon_variant

true

25,835

non_coding_transcript_exon_variant_14

2

121,530,929

G

C

MIM 210710

non_coding_transcript_exon_variant

true

25,835

non_coding_transcript_exon_variant_15

2

121,530,930

G

A

MIM 210710

non_coding_transcript_exon_variant

true

25,836

non_coding_transcript_exon_variant_16

2

121,530,932

C

G

MIM 210710

non_coding_transcript_exon_variant

true

25,838

non_coding_transcript_exon_variant_17

2

121,530,934

G

A

MIM 210710

non_coding_transcript_exon_variant

true

25,840

non_coding_transcript_exon_variant_18

2

121,530,945

G

C

MIM 210710

non_coding_transcript_exon_variant

true

25,851

non_coding_transcript_exon_variant_19

2

121,530,990

G

A

MIM 210710

non_coding_transcript_exon_variant

true

25,896

non_coding_transcript_exon_variant_20

2

121,530,997

T

C

MIM 616651

non_coding_transcript_exon_variant

true

25,903

non_coding_transcript_exon_variant_21

2

121,531,003

G

A

MIM 210710

non_coding_transcript_exon_variant

true

25,909

non_coding_transcript_exon_variant_22

2

127,418,407

A

G

MIM 612304

PLS

true

19

PLS_38

2

127,418,408

A

G

MIM 612304

PLS

true

18

PLS_39

2

127,418,412

T

A

MIM 176860

PLS

true

14

PLS_40

2

127,418,425

T

C

MIM 176860

PLS

true

1

PLS_41

2

127,467,652

A

G

null

non_coding_transcript_exon_variant

false

25,723

non_coding_transcript_exon_variant_8

2

127,649,924

G

A

null

PLS

false

14

PLS_39

2

130,129,236

C

T

null

PLS

false

13

PLS_40

2

130,703,101

G

A

null

non_coding_transcript_exon_variant

false

25,968

non_coding_transcript_exon_variant_10

2

130,703,174

G

A

null

non_coding_transcript_exon_variant

false

25,895

non_coding_transcript_exon_variant_9

2

131,476,103

G

A

null

PLS

false

15

PLS_39

2

131,555,132

G

A

null

non_coding_transcript_exon_variant

false

25,950

non_coding_transcript_exon_variant_10

2

134,865,238

C

T

null

non_coding_transcript_exon_variant

false

26,619

non_coding_transcript_exon_variant_20

2

134,865,290

T

C

null

non_coding_transcript_exon_variant

false

26,671

non_coding_transcript_exon_variant_21

2

149,005,165

G

A

null

non_coding_transcript_exon_variant

false

26,719

non_coding_transcript_exon_variant_22

2

151,289,680

G

C

null

5_prime_UTR_variant

false

11

5_prime_UTR_variant_82

2

152,124,339

T

A

null

non_coding_transcript_exon_variant

false

25,171

non_coding_transcript_exon_variant_21

2

153,944,486

T

C

null

5_prime_UTR_variant

false

11

5_prime_UTR_variant_82

2

159,458,577

A

G

null

non_coding_transcript_exon_variant

false

25,626

non_coding_transcript_exon_variant_11

2

159,458,614

C

T

null

non_coding_transcript_exon_variant

false

25,663

non_coding_transcript_exon_variant_9

2

159,459,052

G

A

null

non_coding_transcript_exon_variant

false

26,101

non_coding_transcript_exon_variant_12

2

159,459,380

T

C

null

non_coding_transcript_exon_variant

false

26,429

non_coding_transcript_exon_variant_18

2

159,459,588

C

T

null

non_coding_transcript_exon_variant

false

26,637

non_coding_transcript_exon_variant_21

2

159,798,257

G

A

null

PLS

false

1

PLS_41

2

159,798,279

G

T

null

PLS

false

23

PLS_38

2

161,651,113

C

T

null

non_coding_transcript_exon_variant

false

26,651

non_coding_transcript_exon_variant_21

2

165,267,007

A

G

null

non_coding_transcript_exon_variant

false

25,946

non_coding_transcript_exon_variant_10

2

165,267,091

G

A

null

non_coding_transcript_exon_variant

false

26,030

non_coding_transcript_exon_variant_11

2

165,267,319

C

A

null

non_coding_transcript_exon_variant

false

26,258

non_coding_transcript_exon_variant_15

2

165,267,397

G

T

null

non_coding_transcript_exon_variant

false

26,336

non_coding_transcript_exon_variant_17

2

165,267,504

T

C

null

non_coding_transcript_exon_variant

false

26,443

non_coding_transcript_exon_variant_19

2

165,267,541

T

C

null

non_coding_transcript_exon_variant

false

26,480

non_coding_transcript_exon_variant_19

2

165,267,557

G

A

null

non_coding_transcript_exon_variant

false

26,473

non_coding_transcript_exon_variant_19

2

165,267,709

G

A

null

non_coding_transcript_exon_variant

false

26,321

non_coding_transcript_exon_variant_16

2

165,268,464

A

G

null

non_coding_transcript_exon_variant

false

25,566

non_coding_transcript_exon_variant_12

2

165,268,571

C

T

null

non_coding_transcript_exon_variant

false

25,459

non_coding_transcript_exon_variant_14

2

165,268,709

C

T

null

non_coding_transcript_exon_variant

false

25,321

non_coding_transcript_exon_variant_17

2

165,268,829

T

A

null

non_coding_transcript_exon_variant

false

25,201

non_coding_transcript_exon_variant_20

2

165,268,991

A

G

null

non_coding_transcript_exon_variant

false

25,039

non_coding_transcript_exon_variant_22

2

166,077,764

C

T

null

5_prime_UTR_variant

false

4,093

5_prime_UTR_variant_81

2

169,694,453

G

A

null

PLS

false

0

PLS_41

2

169,733,812

T

C

null

PLS

false

19

PLS_38

2

170,741,097

C

T

null

non_coding_transcript_exon_variant

false

25,759

non_coding_transcript_exon_variant_8

2

170,741,184

A

T

null

non_coding_transcript_exon_variant

false

25,846

non_coding_transcript_exon_variant_8

2

171,522,147

T

G

null

PLS

false

99

PLS_37

2

176,130,011

G

A

null

5_prime_UTR_variant

false

10

5_prime_UTR_variant_82

2

176,242,828

A

G

null

non_coding_transcript_exon_variant

false

26,613

non_coding_transcript_exon_variant_20

2

177,283,742

A

T

null

5_prime_UTR_variant

false

4,034

5_prime_UTR_variant_81

2

178,451,344

C

T

null

PLS

false

1

PLS_41

2

178,480,456

C

T

null

PLS

false

0

PLS_41

2

179,264,718

G

T

null

5_prime_UTR_variant

false

113

5_prime_UTR_variant_80

2

186,625,644

T

G

null

non_coding_transcript_exon_variant

false

25,438

non_coding_transcript_exon_variant_15

2

186,625,662

G

T

null

non_coding_transcript_exon_variant

false

25,456

non_coding_transcript_exon_variant_15

2

186,626,413

G

A

null

non_coding_transcript_exon_variant

false

26,207

non_coding_transcript_exon_variant_14

2

196,068,375

C

G

null

5_prime_UTR_variant

false

111

5_prime_UTR_variant_80

2

196,292,194

T

C

null

non_coding_transcript_exon_variant

false

26,502

non_coding_transcript_exon_variant_20

2

196,292,514

C

T

null

non_coding_transcript_exon_variant

false

26,182

non_coding_transcript_exon_variant_14

2

200,688,715

T

G

null

non_coding_transcript_exon_variant

false

25,807

non_coding_transcript_exon_variant_8

2

201,257,992

T

G

null

5_prime_UTR_variant

false

11

5_prime_UTR_variant_82

2

207,166,747

C

T

null

PLS

false

99

PLS_37

2

210,028,470

C

T

null

non_coding_transcript_exon_variant

false

25,812

non_coding_transcript_exon_variant_8

2

210,476,875

G

T

null

PLS

false

99

PLS_37

2

215,462,339

A

G

null

non_coding_transcript_exon_variant

false

26,265

non_coding_transcript_exon_variant_15

2

216,886,095

T

C

null

non_coding_transcript_exon_variant

false

26,030

non_coding_transcript_exon_variant_11

2

216,886,163

A

G

null

non_coding_transcript_exon_variant

false

26,098

non_coding_transcript_exon_variant_12

2

216,886,225

C

T

null

non_coding_transcript_exon_variant

false

26,160

non_coding_transcript_exon_variant_14

2

216,886,331

C

T

null

non_coding_transcript_exon_variant

false

26,266

non_coding_transcript_exon_variant_15