Datasets:

Omarrran
/

human_genome_variants_hnm

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train · 116k rows

reference_name stringclasses 24 values	start_position int64 322 249M	end_position int64 322 249M	reference_bases stringclasses 4 values	alternate_bases stringclasses 4 values	variant_id stringlengths 8 19	allele_frequency float64 0 0.5	african_allele_frequency float64 0 0.74	european_allele_frequency float64 0 0.75	gene_symbol stringlengths 0 8	consequence stringclasses 14 values	impact stringclasses 5 values	impact_category stringclasses 4 values	is_rare bool 2 classes
chr5	14,989,803	14,989,803	C	T	chr5_14989803_C_T	0.043964	0.054198	0.065458	GENE1295	intron_variant	LOW	Low/Modifier Impact	false
chrY	13,871,884	13,871,884	G	T	chrY_13871884_G_T	0.033631	0.045458	0.041169				Unknown	false
chr10	68,489,134	68,489,134	G	T	chr10_68489134_G_T	0.000988	0.000621	0.000777	GENE926	synonymous_variant	MODIFIER	Low/Modifier Impact	true
chr2	143,870,021	143,870,021	A	T	rs867378634	0.021561	0.022412	0.025766	GENE109	splice_acceptor_variant	MODIFIER	Low/Modifier Impact	false
chr1	68,824,582	68,824,582	T	C	rs836438523	0.007136	0.007752	0.010307	GENE639	5_prime_UTR_variant	MODERATE	Moderate Impact	true
chr13	96,203,216	96,203,216	G	T	chr13_96203216_G_T	0.01789	0.016001	0.014367				Unknown	false
chr2	92,609,005	92,609,005	T	G	chr2_92609005_T_G	0.007215	0.009159	0.006492				Unknown	true
chr14	57,300,219	57,300,219	C	A	chr14_57300219_C_A	0.005975	0.008094	0.004446	GENE1734	upstream_gene_variant	MODERATE	Moderate Impact	true
chr12	33,952,784	33,952,784	A	T	rs592064331	0.002723	0.001939	0.002119	GENE200	splice_donor_variant	MODIFIER	Low/Modifier Impact	true
chr19	40,899,856	40,899,856	T	C	rs210667468	0.013741	0.010774	0.019088	GENE1997	stop_lost	LOW	Low/Modifier Impact	false
chrX	155,522,046	155,522,046	T	A	rs67346832	0.131258	0.168746	0.174873	GENE721	intron_variant	MODIFIER	Low/Modifier Impact	false
chr14	90,180,262	90,180,262	T	A	rs6028007	0.008816	0.005687	0.009819	GENE1216	splice_acceptor_variant	MODIFIER	Low/Modifier Impact	true
chr12	87,604,247	87,604,247	T	A	chr12_87604247_T_A	0.337056	0.30861	0.4708				Unknown	false
chr10	67,693,619	67,693,619	T	G	rs775816077	0.009843	0.013145	0.014398	GENE9	splice_donor_variant	LOW	Low/Modifier Impact	true
chr18	32,962,183	32,962,183	T	A	rs817468267	0.026756	0.014863	0.021651	GENE131	splice_acceptor_variant	MODIFIER	Low/Modifier Impact	false
chr9	35,740,297	35,740,297	G	A	rs226890951	0.365031	0.455085	0.218391	GENE622	upstream_gene_variant	LOW	Low/Modifier Impact	false
chr3	19,694,490	19,694,490	G	C	rs976618557	0.047111	0.041949	0.042647				Unknown	false
chr1	39,487,903	39,487,903	C	G	rs773271893	0.049836	0.054158	0.060514				Unknown	false
chr9	4,788,744	4,788,744	T	G	rs790666123	0.002453	0.002209	0.001884	GENE1962	synonymous_variant	HIGH	High Impact	true
chr8	4,406,047	4,406,047	G	A	rs403308089	0.012163	0.006369	0.010974	GENE316	stop_lost	MODIFIER	Low/Modifier Impact	false
chr12	78,937,856	78,937,856	A	G	rs134939381	0.031881	0.034163	0.045364	GENE559	3_prime_UTR_variant	MODIFIER	Low/Modifier Impact	false
chr1	2,039,156	2,039,156	C	T	chr1_2039156_C_T	0.042381	0.029491	0.026173				Unknown	false
chr14	22,481,578	22,481,578	C	G	rs615756042	0.018529	0.014082	0.013967	GENE192	stop_lost	MODIFIER	Low/Modifier Impact	false
chr1	66,773,136	66,773,136	G	C	chr1_66773136_G_C	0.013917	0.018498	0.009889	GENE1366	splice_donor_variant	MODIFIER	Low/Modifier Impact	false
chr15	45,970,325	45,970,325	G	C	rs849896008	0.022772	0.018168	0.028777	GENE1272	intron_variant	MODIFIER	Low/Modifier Impact	false
chr9	74,681,482	74,681,482	G	T	rs616386986	0.028531	0.017052	0.021934	GENE333	downstream_gene_variant	LOW	Low/Modifier Impact	false
chr13	98,984,629	98,984,629	G	T	chr13_98984629_G_T	0.037328	0.028886	0.052096	GENE1141	stop_gained	MODIFIER	Low/Modifier Impact	false
chr19	57,360,045	57,360,045	G	C	rs174033958	0.016613	0.014828	0.013387	GENE940	stop_lost	LOW	Low/Modifier Impact	false
chr5	75,466,489	75,466,489	C	T	rs15509629	0.109462	0.070791	0.116044	GENE1177	stop_lost	MODIFIER	Low/Modifier Impact	false
chr2	100,419,261	100,419,261	A	G	chr2_100419261_A_G	0.376288	0.423467	0.516455	GENE1043	upstream_gene_variant	MODIFIER	Low/Modifier Impact	false
chr20	57,124,891	57,124,891	T	C	rs677364782	0.015119	0.019966	0.01901	GENE1590	synonymous_variant	MODIFIER	Low/Modifier Impact	false
chr2	127,484,661	127,484,661	C	A	rs888684067	0.010911	0.011108	0.01265				Unknown	false
chr18	77,471,970	77,471,970	A	G	rs374170269	0.029446	0.027687	0.038077	GENE244	start_lost	MODIFIER	Low/Modifier Impact	false
chr5	72,621,436	72,621,436	G	C	rs226087298	0.286759	0.392668	0.384989	GENE498	splice_donor_variant	MODERATE	Moderate Impact	false
chr11	48,080,229	48,080,229	A	C	chr11_48080229_A_C	0.030701	0.032993	0.029037	GENE708	stop_lost	MODIFIER	Low/Modifier Impact	false
chr3	120,503,524	120,503,524	C	T	rs711079434	0.000143	0.000151	0.000206	GENE1517	stop_gained	LOW	Low/Modifier Impact	true
chrX	137,442,734	137,442,734	A	C	rs724916000	0.024193	0.026364	0.019436	GENE1386	intron_variant	MODIFIER	Low/Modifier Impact	false
chr10	67,524,493	67,524,493	C	G	rs91260354	0.000094	0.000081	0.000098				Unknown	true
chr2	23,151,816	23,151,816	G	T	chr2_23151816_G_T	0.225064	0.154255	0.181425	GENE116	start_lost	MODIFIER	Low/Modifier Impact	false
chr7	82,802,735	82,802,735	T	A	rs198057923	0.408564	0.485378	0.287635				Unknown	false
chr2	57,708,423	57,708,423	T	A	rs857969589	0.010803	0.007679	0.00572				Unknown	false
chr22	47,383,914	47,383,914	A	C	rs797120343	0.038029	0.051933	0.041191	GENE1229	stop_lost	MODERATE	Moderate Impact	false
chr1	226,327,440	226,327,440	A	C	rs794500251	0.047379	0.049212	0.038984	GENE740	5_prime_UTR_variant	LOW	Low/Modifier Impact	false
chrY	7,390,751	7,390,751	A	C	chrY_7390751_A_C	0.023759	0.03213	0.024683	GENE1678	upstream_gene_variant	MODIFIER	Low/Modifier Impact	false
chr14	54,884,241	54,884,241	A	C	chr14_54884241_A_C	0.021078	0.029951	0.027868				Unknown	false
chr19	10,282,694	10,282,694	T	C	chr19_10282694_T_C	0.041395	0.054294	0.044044	GENE1687	synonymous_variant	MODIFIER	Low/Modifier Impact	false
chr1	190,750,234	190,750,234	G	A	rs39009834	0.054227	0.060221	0.034335				Unknown	false
chr18	73,820,592	73,820,592	G	A	rs232855451	0.02218	0.022575	0.024881	GENE183	missense_variant	MODIFIER	Low/Modifier Impact	false
chr9	48,467,563	48,467,563	G	C	chr9_48467563_G_C	0.033771	0.022398	0.038885	GENE1873	splice_donor_variant	HIGH	High Impact	false
chr1	145,581,635	145,581,635	G	T	chr1_145581635_G_T	0.021719	0.011589	0.019172	GENE168	frameshift_variant	MODIFIER	Low/Modifier Impact	false
chr13	41,824,494	41,824,494	A	C	chr13_41824494_A_C	0.015595	0.011861	0.023067	GENE1821	5_prime_UTR_variant	LOW	Low/Modifier Impact	false
chrY	22,531,020	22,531,020	A	T	rs468380085	0.023129	0.023216	0.023365	GENE1074	stop_gained	MODIFIER	Low/Modifier Impact	false
chr11	121,476,981	121,476,981	T	C	chr11_121476981_T_C	0.049814	0.035687	0.063163	GENE756	synonymous_variant	MODIFIER	Low/Modifier Impact	false
chr14	36,353,939	36,353,939	T	A	rs247153971	0.043943	0.039636	0.061725				Unknown	false
chr7	10,481,104	10,481,104	A	G	rs69037048	0.0087	0.010478	0.007148	GENE1923	3_prime_UTR_variant	LOW	Low/Modifier Impact	true
chr8	32,321,542	32,321,542	A	G	rs405967577	0.013011	0.01563	0.010195	GENE803	5_prime_UTR_variant	LOW	Low/Modifier Impact	false
chr5	94,392,957	94,392,957	A	T	rs402024696	0.019505	0.010124	0.013861				Unknown	false
chr2	129,254,191	129,254,191	T	C	chr2_129254191_T_C	0.018199	0.01093	0.011371				Unknown	false
chr4	16,329,716	16,329,716	G	T	chr4_16329716_G_T	0.047016	0.069997	0.060839				Unknown	false
chr3	132,426,660	132,426,660	T	A	chr3_132426660_T_A	0.003978	0.003989	0.002614				Unknown	true
chr3	89,175,471	89,175,471	G	C	chr3_89175471_G_C	0.013996	0.018873	0.013584	GENE1220	downstream_gene_variant	MODERATE	Moderate Impact	false
chr1	7,337,383	7,337,383	A	C	rs534996245	0.015894	0.016664	0.009163	GENE1282	splice_donor_variant	MODERATE	Moderate Impact	false
chr13	50,032,050	50,032,050	C	A	rs987305961	0.032156	0.021743	0.016279	GENE367	5_prime_UTR_variant	MODIFIER	Low/Modifier Impact	false
chr15	98,685,534	98,685,534	G	T	chr15_98685534_G_T	0.012621	0.011196	0.011039	GENE1352	frameshift_variant	LOW	Low/Modifier Impact	false
chr1	247,716,154	247,716,154	A	C	rs378267678	0.035079	0.019347	0.046433	GENE599	stop_lost	LOW	Low/Modifier Impact	false
chr14	57,688,691	57,688,691	C	A	rs743976120	0.044405	0.034794	0.062286	GENE714	frameshift_variant	LOW	Low/Modifier Impact	false
chr22	35,966,230	35,966,230	A	T	rs650436871	0.044257	0.063207	0.053134				Unknown	false
chr3	111,247,433	111,247,433	T	A	rs526658999	0.002311	0.002777	0.002587	GENE1122	intron_variant	MODIFIER	Low/Modifier Impact	true
chr5	77,888,957	77,888,957	T	G	chr5_77888957_T_G	0.042999	0.033036	0.042418	GENE1607	splice_acceptor_variant	LOW	Low/Modifier Impact	false
chr18	51,738,614	51,738,614	A	T	rs90898579	0.000677	0.000891	0.000675	GENE960	3_prime_UTR_variant	HIGH	High Impact	true
chr18	18,713,803	18,713,803	A	T	rs983429795	0.022777	0.016226	0.021444	GENE974	missense_variant	LOW	Low/Modifier Impact	false
chr2	25,783,721	25,783,721	T	C	rs276904844	0.041069	0.030263	0.033777				Unknown	false
chr9	60,654,308	60,654,308	T	G	rs533459146	0.040708	0.021854	0.047496				Unknown	false
chr7	64,721,731	64,721,731	T	A	chr7_64721731_T_A	0.008596	0.008042	0.004874				Unknown	true
chr3	156,501,086	156,501,086	A	G	rs662877111	0.047712	0.054717	0.031991				Unknown	false
chr3	123,697,034	123,697,034	C	T	rs471867619	0.008251	0.005682	0.009383	GENE594	missense_variant	MODIFIER	Low/Modifier Impact	true
chr2	103,857,043	103,857,043	A	C	chr2_103857043_A_C	0.049945	0.062163	0.031313				Unknown	false
chrX	113,163,733	113,163,733	T	G	chrX_113163733_T_G	0.032246	0.03111	0.040729	GENE368	frameshift_variant	MODIFIER	Low/Modifier Impact	false
chr22	44,341,524	44,341,524	A	T	rs819281742	0.042944	0.021991	0.029737	GENE51	splice_acceptor_variant	MODERATE	Moderate Impact	false
chr11	34,523,528	34,523,528	C	G	rs475605052	0.029358	0.017198	0.026673	GENE1439	splice_donor_variant	MODERATE	Moderate Impact	false
chr9	16,147,161	16,147,161	G	C	chr9_16147161_G_C	0.00229	0.002282	0.001298	GENE554	synonymous_variant	LOW	Low/Modifier Impact	true
chr11	30,930,262	30,930,262	A	C	chr11_30930262_A_C	0.491238	0.478899	0.465421				Unknown	false
chr14	76,795,761	76,795,761	A	T	chr14_76795761_A_T	0.026024	0.023348	0.01515	GENE1930	synonymous_variant	MODIFIER	Low/Modifier Impact	false
chr5	85,979,605	85,979,605	T	C	rs731761521	0.039855	0.05021	0.029377	GENE726	upstream_gene_variant	HIGH	High Impact	false
chr22	32,530,965	32,530,965	T	G	chr22_32530965_T_G	0.022884	0.027571	0.019554				Unknown	false
chr11	19,800,734	19,800,734	A	G	rs967852010	0.000891	0.001063	0.000523	GENE885	5_prime_UTR_variant	MODERATE	Moderate Impact	true
chr8	77,566,839	77,566,839	A	G	rs875338049	0.002844	0.002439	0.003864	GENE1688	stop_lost	LOW	Low/Modifier Impact	true
chr7	111,056,833	111,056,833	A	T	chr7_111056833_A_T	0.016317	0.020026	0.022364				Unknown	false
chr6	143,697,866	143,697,866	C	G	rs472161518	0.361159	0.462711	0.268764				Unknown	false
chr21	46,579,583	46,579,583	C	T	rs525287835	0.040911	0.0549	0.022565	GENE1732	downstream_gene_variant	MODIFIER	Low/Modifier Impact	false
chr12	98,183,554	98,183,554	A	T	rs260772598	0.017559	0.024622	0.015479	GENE665	upstream_gene_variant	LOW	Low/Modifier Impact	false
chr4	137,575,949	137,575,949	T	A	chr4_137575949_T_A	0.034015	0.020611	0.048249	GENE900	stop_lost	LOW	Low/Modifier Impact	false
chrY	29,052,562	29,052,562	T	A	rs186995712	0.014166	0.01178	0.021107	GENE1393	splice_acceptor_variant	MODIFIER	Low/Modifier Impact	false
chr11	107,571,690	107,571,690	T	C	chr11_107571690_T_C	0.022824	0.016448	0.027443				Unknown	false
chr7	23,062,296	23,062,296	A	T	rs115189871	0.303864	0.378805	0.447061	GENE1947	splice_acceptor_variant	MODIFIER	Low/Modifier Impact	false
chr10	5,734,276	5,734,276	T	C	rs956339060	0.038156	0.050012	0.025397	GENE1698	downstream_gene_variant	LOW	Low/Modifier Impact	false
chr8	130,149,556	130,149,556	C	T	rs219002877	0.040428	0.037536	0.036877				Unknown	false
chr1	81,253,349	81,253,349	C	A	rs667414345	0.124677	0.074106	0.144352				Unknown	false
chr14	45,405,217	45,405,217	G	T	rs145177843	0.02574	0.035348	0.029373				Unknown	false
chrY	7,027,132	7,027,132	C	G	chrY_7027132_C_G	0.045822	0.062746	0.046312	GENE1498	3_prime_UTR_variant	MODIFIER	Low/Modifier Impact	false

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