Split (2)

train · 16.1k rows

chrom stringclasses 12 values	pos int64 17.1k 249M	ref stringclasses 4 values	alt stringclasses 4 values	label bool 2 classes	subset stringclasses 9 values	match_group int64 0 2.56k	clinvar_id float64 72 4.09M ⌀	trait stringlengths 3 188 ⌀	source stringclasses 3 values	AF float64 0 1	consequence stringclasses 14 values	consequence_cre stringclasses 29 values	AC float64 27 152k ⌀	AN float64 26.1k 152k ⌀	exon_closest_pc_gene_id stringlengths 15 15	distance_exon_pc int64 0 373k	exon_closest_nc_gene_id stringlengths 15 15	distance_exon_nc int64 0 159k	distance_exon int64 0 24.5k	exon_closest_gene_id stringlengths 15 15	consequence_final stringclasses 19 values	tss_closest_pc_gene_id stringlengths 15 15	distance_tss_pc int64 0 376k	tss_closest_nc_gene_id stringlengths 15 15	distance_tss_nc int64 0 226k	distance_tss int64 0 126k	tss_closest_gene_id stringlengths 15 15	consequence_group stringclasses 9 values	distance_tss_pc_bin stringclasses 4 values	distance_exon_pc_bin stringclasses 12 values
X	155,022,809	A	G	true	tss_proximal	1,263	null	Haemophilia A	hgmd	0	intron_variant	PLS	null	null	ENSG00000185010	85	ENSG00000185010	93	85	ENSG00000185010	tss_proximal	ENSG00000185010	85	ENSG00000185010	93	85	ENSG00000185010	tss_proximal	tss_prox:b0	tss_prox:b0
X	155,023,412	T	C	true	tss_proximal	1,267	null	Haemophilia A	hgmd	0	intron_variant	pELS_flank	null	null	ENSG00000185010	688	ENSG00000185010	696	688	ENSG00000185010	tss_proximal	ENSG00000185010	688	ENSG00000185010	696	688	ENSG00000185010	tss_proximal	tss_prox:b1	tss_prox:b1
X	155,023,518	C	A	true	tss_proximal	1,268	null	Haemophilia A	hgmd	0	intron_variant	pELS_flank	null	null	ENSG00000185010	794	ENSG00000185010	802	794	ENSG00000185010	tss_proximal	ENSG00000185010	794	ENSG00000185010	802	794	ENSG00000185010	tss_proximal	tss_prox:b1	tss_prox:b1
X	155,047,382	C	G	false	missense_variant	129	null	null	null	0.007706	missense_variant	missense_variant	864	112,117	ENSG00000165775	797	ENSG00000165775	0	0	ENSG00000165775	missense_variant	ENSG00000182712	17,985	ENSG00000165775	324	324	ENSG00000165775	missense_variant	NA	NA
X	155,056,498	C	G	false	3_prime_UTR_variant	2,285	null	null	null	0.003208	3_prime_UTR_variant	3_prime_UTR_variant	339	105,663	ENSG00000165775	0	ENSG00000165775	926	0	ENSG00000165775	3_prime_UTR_variant	ENSG00000182712	8,869	ENSG00000165775	7,403	7,403	ENSG00000165775	3_prime_UTR_variant	NA	NA
X	155,056,542	C	G	false	3_prime_UTR_variant	2,285	null	null	null	0.010138	3_prime_UTR_variant	3_prime_UTR_variant	1,084	106,929	ENSG00000165775	0	ENSG00000165775	970	0	ENSG00000165775	3_prime_UTR_variant	ENSG00000182712	8,825	ENSG00000165775	7,447	7,447	ENSG00000165775	3_prime_UTR_variant	NA	NA
X	155,056,641	G	T	false	3_prime_UTR_variant	2,285	null	null	null	0.002659	3_prime_UTR_variant	3_prime_UTR_variant	293	110,190	ENSG00000165775	0	ENSG00000165775	1,069	0	ENSG00000165775	3_prime_UTR_variant	ENSG00000182712	8,726	ENSG00000165775	7,546	7,546	ENSG00000165775	3_prime_UTR_variant	NA	NA
X	155,116,702	A	G	false	splicing	2,170	null	null	null	0.012039	splice_polypyrimidine_tract_variant	splice_polypyrimidine_tract_variant	1,352	112,300	ENSG00000185515	8	ENSG00000185515	8	8	ENSG00000185515	splice_polypyrimidine_tract_variant	ENSG00000214827	31,072	ENSG00000235991	20,408	20,408	ENSG00000235991	splicing	NA	splicing:b1
X	155,334,977	T	A	false	non_coding_transcript_exon_variant	2,455	null	null	null	0.002018	non_coding_transcript_exon_variant	non_coding_transcript_exon_variant	226	112,010	ENSG00000155962	319	ENSG00000224216	0	0	ENSG00000224216	non_coding_transcript_exon_variant	ENSG00000155962	319	ENSG00000155962	434	319	ENSG00000155962	non_coding_transcript_exon_variant	NA	NA
X	155,880,669	G	A	false	tss_proximal	1,267	null	null	null	0.001961	upstream_gene_variant	pELS	298	151,960	ENSG00000124333	675	ENSG00000124333	688	675	ENSG00000124333	tss_proximal	ENSG00000124333	675	ENSG00000124333	688	675	ENSG00000124333	tss_proximal	tss_prox:b1	tss_prox:b1
X	155,881,313	G	A	false	tss_proximal	1,240	null	null	null	0.002798	upstream_gene_variant	PLS	426	152,226	ENSG00000124333	31	ENSG00000124333	44	31	ENSG00000124333	tss_proximal	ENSG00000124333	31	ENSG00000124333	44	31	ENSG00000124333	tss_proximal	tss_prox:b0	tss_prox:b0
X	155,881,323	G	C	false	tss_proximal	1,239	null	null	null	0.001044	upstream_gene_variant	PLS	159	152,258	ENSG00000124333	21	ENSG00000124333	34	21	ENSG00000124333	tss_proximal	ENSG00000124333	21	ENSG00000124333	34	21	ENSG00000124333	tss_proximal	tss_prox:b0	tss_prox:b0
X	155,881,341	C	G	false	tss_proximal	1,230	null	null	null	0.003455	upstream_gene_variant	PLS	526	152,228	ENSG00000124333	3	ENSG00000124333	16	3	ENSG00000124333	tss_proximal	ENSG00000124333	3	ENSG00000124333	16	3	ENSG00000124333	tss_proximal	tss_prox:b0	tss_prox:b0
X	155,881,342	A	C	false	tss_proximal	1,230	null	null	null	0.095339	upstream_gene_variant	PLS	14,506	152,152	ENSG00000124333	2	ENSG00000124333	15	2	ENSG00000124333	tss_proximal	ENSG00000124333	2	ENSG00000124333	15	2	ENSG00000124333	tss_proximal	tss_prox:b0	tss_prox:b0
X	155,881,414	C	T	false	5_prime_UTR_variant	1,622	null	null	null	0.193237	5_prime_UTR_variant	5_prime_UTR_variant	29,379	152,036	ENSG00000124333	0	ENSG00000124333	0	0	ENSG00000124333	5_prime_UTR_variant	ENSG00000124333	35	ENSG00000124333	41	35	ENSG00000124333	5_prime_UTR_variant	NA	NA
X	155,882,039	G	C	false	tss_proximal	1,266	null	null	null	0.097926	intron_variant	pELS	14,892	152,074	ENSG00000124333	590	ENSG00000124333	590	590	ENSG00000124333	tss_proximal	ENSG00000124333	660	ENSG00000124333	666	660	ENSG00000124333	tss_proximal	tss_prox:b1	tss_prox:b1
X	155,900,534	T	C	false	missense_variant	134	null	null	null	0.002596	missense_variant	missense_variant	395	152,136	ENSG00000124333	0	ENSG00000124333	0	0	ENSG00000124333	missense_variant	ENSG00000124333	19,155	ENSG00000124333	19,161	19,155	ENSG00000124333	missense_variant	NA	NA
X	155,997,618	C	T	false	tss_proximal	1,233	null	null	null	0.001669	upstream_gene_variant	PLS	254	152,232	ENSG00000124334	77	ENSG00000124334	115	77	ENSG00000124334	tss_proximal	ENSG00000124334	77	ENSG00000124334	115	77	ENSG00000124334	tss_proximal	tss_prox:b0	tss_prox:b0
X	155,997,686	G	A	false	tss_proximal	1,240	null	null	null	0.001996	upstream_gene_variant	PLS	304	152,314	ENSG00000124334	9	ENSG00000124334	47	9	ENSG00000124334	tss_proximal	ENSG00000124334	9	ENSG00000124334	47	9	ENSG00000124334	tss_proximal	tss_prox:b0	tss_prox:b0
X	155,997,715	T	C	false	5_prime_UTR_variant	1,624	null	null	null	0.001524	5_prime_UTR_variant	5_prime_UTR_variant	232	152,280	ENSG00000124334	0	ENSG00000124334	18	0	ENSG00000124334	5_prime_UTR_variant	ENSG00000124334	8	ENSG00000124334	18	8	ENSG00000124334	5_prime_UTR_variant	NA	NA
X	155,997,799	C	T	false	tss_proximal	1,239	null	null	null	0.014586	intron_variant	PLS_flank	2,220	152,200	ENSG00000124334	11	ENSG00000124334	11	11	ENSG00000124334	tss_proximal	ENSG00000124334	92	ENSG00000124334	64	64	ENSG00000124334	tss_proximal	tss_prox:b0	tss_prox:b0
X	156,001,545	G	C	false	distal	2,557	null	null	null	0.01153	intron_variant	dELS_flank	1,756	152,294	ENSG00000124334	36	ENSG00000124334	36	36	ENSG00000124334	dELS_flank	ENSG00000124334	3,838	ENSG00000270726	2,672	2,672	ENSG00000270726	distal	NA	distal:b0
X	156,003,450	G	T	false	splicing	2,157	null	null	null	0.04536	splice_region_variant	splice_region_variant	6,904	152,204	ENSG00000124334	0	ENSG00000124334	479	0	ENSG00000124334	splice_region_variant	ENSG00000124334	5,743	ENSG00000270726	767	767	ENSG00000270726	splicing	NA	splicing:b0
X	156,004,433	G	A	false	splicing	2,186	null	null	null	0.001386	splice_polypyrimidine_tract_variant	splice_polypyrimidine_tract_variant	211	152,222	ENSG00000124334	0	ENSG00000270726	0	0	ENSG00000124334	splice_polypyrimidine_tract_variant	ENSG00000124334	6,726	ENSG00000270726	214	214	ENSG00000270726	splicing	NA	splicing:b0
X	156,005,413	G	C	false	missense_variant	83	null	null	null	0.006103	missense_variant	missense_variant	929	152,214	ENSG00000124334	0	ENSG00000124334	700	0	ENSG00000124334	missense_variant	ENSG00000124334	7,706	ENSG00000124334	700	700	ENSG00000124334	missense_variant	NA	NA
X	156,006,066	G	C	false	splicing	2,169	null	null	null	0.009438	splice_polypyrimidine_tract_variant	splice_polypyrimidine_tract_variant	1,437	152,256	ENSG00000124334	16	ENSG00000124334	47	16	ENSG00000124334	splice_polypyrimidine_tract_variant	ENSG00000124334	8,359	ENSG00000124334	47	47	ENSG00000124334	splicing	NA	splicing:b1
X	156,006,121	C	T	false	missense_variant	125	null	null	null	0.007834	missense_variant	missense_variant	1,190	151,898	ENSG00000124334	0	ENSG00000124334	0	0	ENSG00000124334	missense_variant	ENSG00000124334	8,414	ENSG00000124334	6	6	ENSG00000124334	missense_variant	NA	NA
X	156,006,158	C	T	false	missense_variant	125	null	null	null	0.002013	missense_variant	missense_variant	306	151,998	ENSG00000124334	0	ENSG00000124334	0	0	ENSG00000124334	missense_variant	ENSG00000124334	8,451	ENSG00000124334	43	43	ENSG00000124334	missense_variant	NA	NA
X	156,006,164	A	G	false	missense_variant	125	null	null	null	0.005445	missense_variant	missense_variant	822	150,954	ENSG00000124334	0	ENSG00000124334	0	0	ENSG00000124334	missense_variant	ENSG00000124334	8,457	ENSG00000124334	49	49	ENSG00000124334	missense_variant	NA	NA
X	156,006,182	C	T	false	missense_variant	125	null	null	null	0.001489	missense_variant	missense_variant	226	151,782	ENSG00000124334	0	ENSG00000124334	0	0	ENSG00000124334	missense_variant	ENSG00000124334	8,475	ENSG00000124334	67	67	ENSG00000124334	missense_variant	NA	NA
X	156,021,737	T	C	false	missense_variant	150	null	null	null	0.001078	missense_variant	missense_variant	158	146,572	ENSG00000182484	0	ENSG00000182484	0	0	ENSG00000182484	missense_variant	ENSG00000182484	775	ENSG00000182484	48	48	ENSG00000182484	missense_variant	NA	NA
X	156,021,749	A	G	false	missense_variant	150	null	null	null	0.001778	missense_variant	missense_variant	263	147,928	ENSG00000182484	0	ENSG00000182484	0	0	ENSG00000182484	missense_variant	ENSG00000182484	787	ENSG00000182484	60	60	ENSG00000182484	missense_variant	NA	NA
X	156,022,062	G	A	false	missense_variant	135	null	null	null	0.138381	missense_variant	missense_variant	14,944	107,992	ENSG00000182484	0	ENSG00000182484	0	0	ENSG00000182484	missense_variant	ENSG00000182484	1,100	ENSG00000182484	62	62	ENSG00000182484	missense_variant	NA	NA
X	156,022,092	C	T	false	missense_variant	135	null	null	null	0.063482	missense_variant	missense_variant	6,820	107,432	ENSG00000182484	0	ENSG00000182484	0	0	ENSG00000182484	missense_variant	ENSG00000182484	1,130	ENSG00000182484	92	92	ENSG00000182484	missense_variant	NA	NA
X	156,022,157	G	A	false	non_coding_transcript_exon_variant	2,458	null	null	null	0.010232	non_coding_transcript_exon_variant	non_coding_transcript_exon_variant	1,280	125,096	ENSG00000182484	11	ENSG00000182484	0	0	ENSG00000182484	non_coding_transcript_exon_variant	ENSG00000182484	1,195	ENSG00000182484	157	157	ENSG00000182484	non_coding_transcript_exon_variant	NA	NA
X	156,022,335	G	T	false	missense_variant	98	null	null	null	0.024327	missense_variant	missense_variant	1,662	68,318	ENSG00000182484	0	ENSG00000182484	0	0	ENSG00000182484	missense_variant	ENSG00000182484	1,373	ENSG00000182484	335	335	ENSG00000182484	missense_variant	NA	NA
X	156,023,112	T	C	false	missense_variant	73	null	null	null	0.001094	missense_variant	missense_variant	132	120,672	ENSG00000182484	0	ENSG00000182484	0	0	ENSG00000182484	missense_variant	ENSG00000182484	2,150	ENSG00000182484	254	254	ENSG00000182484	missense_variant	NA	NA
X	156,023,217	A	G	false	splicing	2,162	null	null	null	0.003345	splice_region_variant	splice_region_variant	416	124,368	ENSG00000182484	3	ENSG00000182484	3	3	ENSG00000182484	splice_region_variant	ENSG00000182484	2,255	ENSG00000182484	149	149	ENSG00000182484	splicing	NA	splicing:b0
X	156,025,041	C	T	false	missense_variant	100	null	null	null	0.092034	missense_variant	missense_variant	13,577	147,522	ENSG00000182484	0	ENSG00000182484	0	0	ENSG00000182484	missense_variant	ENSG00000182484	4,079	ENSG00000182484	969	969	ENSG00000182484	missense_variant	NA	NA
X	156,025,095	G	A	false	missense_variant	147	null	null	null	0.001201	missense_variant	missense_variant	182	151,478	ENSG00000182484	0	ENSG00000182484	0	0	ENSG00000182484	missense_variant	ENSG00000182484	4,133	ENSG00000182484	1,023	1,023	ENSG00000182484	missense_variant	NA	NA

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