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	57046290	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	5	B114,B55,B61,C32,C70	613151	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046323	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	4	A16,B8,C72,C78	613152	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57046420	A	AT	INDEL	1bp_insertion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	11	A13,B113,B118,B125,B132,B40,B59,B9,C10,C31,C73	767464	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046520	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	5	A2,B13,B78,C39,C85	613153	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046549	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	2	B16,C38	613154	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57046616	ATT	A	INDEL	2bp_deletion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	7	B117,B33,B47,C15,C35,C56,C80	767465	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57046619	GA	G	INDEL	1bp_deletion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	7	B117,B33,B47,C15,C35,C56,C80	767466	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57046666	AG	A	INDEL	1bp_deletion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	A19	767467	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046666	AG	A	INDEL	1bp_deletion	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	A19	613155	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046698	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	B53	613156	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046700	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	5	B25,B4,B46,B8,C53	613157	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57046708	C	CT	INDEL	1bp_insertion	stop_gained,frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	18	A11,B101,B107,B109,B115,B34,B36,B40,B41,B52,B59,C1,C14,C17,C37,C43,C60,C62	767468	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046751	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	4	B101,B106,B46,B61	613158	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046777	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	3	B109,C43,C62	613159	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046782	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	3	B11,B54,C67	613160	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046801	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	4	B63,B66,B9,D9	613161	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046803	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	2	B23,D8	613162	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57046821	G	GTA	INDEL	2bp_insertion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	3	B73,B83,C65	767469	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046821	G	GTA	INDEL	2bp_insertion	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	3	B73,B83,C65	613163	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57046854	GT	G	INDEL	1bp_deletion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	2	B87,C72	767470	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046854	GT	G	INDEL	1bp_deletion	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	2	B87,C72	613164	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046865	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	B78	613165	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57046949	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	4	B131,B29,C79,D7	613166	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57047007	AGG	A	INDEL	2bp_deletion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	A8	767471	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047007	AGG	A	INDEL	2bp_deletion	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	A8	613167	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047089	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	B133	613168	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047124	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	3	B12,B83,C1	613169	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047139	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	3	B68,C17,C46	613170	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047209	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	4	B121,B94,C77,C78	613171	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047262	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	4	B13,B35,B78,C85	613172	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047313	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	B140	613173	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047317	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	5	B24,C13,C30,C31,C46	613174	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047325	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	5	B24,C13,C30,C31,C46	613175	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57047378	A	AC	INDEL	1bp_insertion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	2	A1,C63	767472	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047378	A	AC	INDEL	1bp_insertion	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	2	A1,C63	613176	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57047396	GT	G	INDEL	1bp_deletion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	C5	767473	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047396	GT	G	INDEL	1bp_deletion	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	C5	613177	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047412	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	2	B32,C12	613178	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57047417	AT	A	INDEL	1bp_deletion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	12	A4,A5,A9,B109,B137,B18,B34,B67,C1,C54,C74,C82	767474	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57047419	T	TAG	INDEL	2bp_insertion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	17	A13,B100,B22,B25,B28,B50,B53,B55,B72,B82,C24,C32,C42,C44,D10,D11,D7	767475	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047473	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	2	A2,D11	613179	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047531	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	B132	613180	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047644	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	B94	613181	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57047894	C	CT	INDEL	1bp_insertion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	3	B10,B12,B83	767476	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047894	C	CT	INDEL	1bp_insertion	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	3	B10,B12,B83	613182	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57047903	AG	A	INDEL	1bp_deletion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	B2	767477	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047903	AG	A	INDEL	1bp_deletion	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	1	B2	613183	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047952	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	4	B33,B47,C15,C56	613184	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57047968	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	3	B2,B91,B94	613185	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57048017	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	5	B1,B118,B119,B2,B7	613186	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57048047	CT	C	INDEL	1bp_deletion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	28	A13,B108,B111,B114,B12,B124,B127,B132,B136,B138,B22,B23,B3,B31,B37,B42,B45,B5,B51,B60,B73,B74,C21,C35,C45,C59,C64,D3	767478	continuous_repair_20261008_165818_r68	nuclear_20260923	55
lof_cds	Chr8	57048052	ACC	A	INDEL	2bp_deletion	frameshift_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	2	C79,C85	767479	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57048052	ACC	A	INDEL	2bp_deletion	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	2	C79,C85	613187	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57048059	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	4	B89,C62,C70,C9	613188	continuous_repair_20261008_165818_r68	nuclear_20260923	55
typical_cds_rare	Chr8	57048061	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130999440	SmilChr08G004773	130999440	rna-XM_057924964.1	2	B119,C35	613189	continuous_repair_20261008_165818_r68	nuclear_20260923	55