source	chrom	pos	ref	alt	variant_type	ems_class	effect	gene_id	standard_gene_id	ncbi_geneid	transcripts	carrier_n	carriers	variant_id	portal_version	data_version	query_total
typical_cds_rare	Chr8	53423665	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	4	A8,B59,B89,C65	603588	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53423827	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B58	603589	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53425176	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	C6	603590	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53425306	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	D10	603591	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53425695	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B14	603592	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53425720	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B58	603593	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53425768	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	5	A1,B126,B77,C19,C47	603594	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53425845	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B121	603595	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53426084	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	D10	603596	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53426167	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B119	603597	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53426236	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	5	A1,B126,B77,C19,C47	603598	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53426329	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	5	A1,B126,B77,C19,C47	603599	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53426978	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B69	603600	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53427157	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	5	A20,B48,B57,B79,C76	603601	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53427224	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	4	A8,B59,B89,C65	603602	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53427248	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	5	A1,B126,B77,C19,C47	603603	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53428036	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B131	603604	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53428105	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B58	603605	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53428335	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	5	A1,B126,B77,C19,C47	603606	continuous_repair_20261004_195551	nuclear_20260923	44
lof_cds	Chr8	53428369	C	T	SNV	EMS_canonical_SNV	stop_gained	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	137	A1,A10,A14,A15,A16,A19,A20,A21,A23,A24,A25,A4,A5,A6,B101,B104,B107,B108,B112,B113,B114,B115,B118,B120,B122,B125,B127,B128,B129,B13,B130,B131,B133,B138,B139,B17,B18,B21,B22,B23,B24,B28,B29,B33,B35,B36,B4,B40,B41,B44,B45,B49,B51,B54,B55,B56,B57,B58,B60,B62,B64,B65,B66,B67,B68,B70,B71,B73,B75,B78,B79,B80,B81,B83,B84,B87,B88,B89,B91,B93,B94,B95,B96,B98,C12,C13,C16,C17,C20,C23,C25,C26,C27,C28,C30,C32,C35,C37,C38,C39,C4,C40,C41,C43,C46,C47,C48,C5,C50,C52,C53,C55,C57,C58,C59,C62,C64,C66,C68,C7,C70,C71,C72,C75,C76,C78,C80,C81,C82,C84,C85,D2,D3,D6,D7,D8,D9	765077	continuous_repair_20261004_195551	nuclear_20260923	44
lof_cds	Chr8	53428379	C	CGA	INDEL	2bp_insertion	frameshift_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	3	C15,C18,C75	765078	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53428379	C	CGA	INDEL	2bp_insertion	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	3	C15,C18,C75	603607	continuous_repair_20261004_195551	nuclear_20260923	44
lof_cds	Chr8	53428384	C	T	SNV	EMS_canonical_SNV	stop_gained	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B122	765079	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53428384	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B122	603608	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53428524	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	3	B69,B82,C34	603609	continuous_repair_20261004_195551	nuclear_20260923	44
lof_cds	Chr8	53428597	C	T	SNV	EMS_canonical_SNV	stop_gained	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	35	A10,A13,A22,A7,B103,B105,B106,B121,B139,B20,B29,B30,B34,B48,B61,B69,B72,B8,B82,B86,C11,C13,C29,C33,C34,C38,C39,C45,C51,C63,C65,C67,C69,C80,D5	765080	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53429363	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B32	603610	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53429508	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B139	603611	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53430428	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	3	A8,B89,C65	603612	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53430448	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B86	603613	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53430913	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	4	A8,B59,B89,C65	603614	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53431441	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B121	603615	continuous_repair_20261004_195551	nuclear_20260923	44
lof_cds	Chr8	53431444	TC	T	INDEL	1bp_deletion	frameshift_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B11	765081	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53431444	TC	T	INDEL	1bp_deletion	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B11	603616	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53432377	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	A21	603617	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53432539	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B17	603618	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53432578	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B136	603619	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53432603	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B101	603620	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53432752	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	D10	603621	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53432893	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	2	A10,C44	603622	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53432901	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	C60	603623	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53433124	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	4	B126,B77,C19,C47	603624	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53433932	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B84	603625	continuous_repair_20261004_195551	nuclear_20260923	44
typical_cds_rare	Chr8	53434245	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999096	SmilChr08G004368	130999096	rna-XM_057924581.1,rna-XM_057924582.1	1	B24	603626	continuous_repair_20261004_195551	nuclear_20260923	44
