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	Chr7	28890418	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	2	C44,C71	500477	continuous_repair_20261008_045525	nuclear_20260923	15
typical_cds_rare	Chr7	28890428	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	4	B72,C65,D3,D6	500478	continuous_repair_20261008_045525	nuclear_20260923	15
typical_cds_rare	Chr7	28890454	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	2	B42,B43	500479	continuous_repair_20261008_045525	nuclear_20260923	15
typical_cds_rare	Chr7	28890898	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	4	B108,B119,B122,B81	500480	continuous_repair_20261008_045525	nuclear_20260923	15
typical_cds_rare	Chr7	28891174	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	2	A6,B61	500481	continuous_repair_20261008_045525	nuclear_20260923	15
typical_cds_rare	Chr7	28891179	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	5	B128,B71,C17,C45,C61	500482	continuous_repair_20261008_045525	nuclear_20260923	15
typical_cds_rare	Chr7	28891224	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	1	D11	500483	continuous_repair_20261008_045525	nuclear_20260923	15
typical_cds_rare	Chr7	28891606	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	4	B72,C65,D3,D6	500484	continuous_repair_20261008_045525	nuclear_20260923	15
typical_cds_rare	Chr7	28891613	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	4	B72,C65,D3,D6	500485	continuous_repair_20261008_045525	nuclear_20260923	15
lof_cds	Chr7	28891717	G	A	SNV	EMS_canonical_SNV	stop_gained	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	1	C3	738300	continuous_repair_20261008_045525	nuclear_20260923	15
typical_cds_rare	Chr7	28891717	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	1	C3	500486	continuous_repair_20261008_045525	nuclear_20260923	15
typical_cds_rare	Chr7	28892357	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	2	B131,C2	500487	continuous_repair_20261008_045525	nuclear_20260923	15
typical_cds_rare	Chr7	28892414	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	2	B34,C38	500488	continuous_repair_20261008_045525	nuclear_20260923	15
typical_cds_rare	Chr7	28892506	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	3	B72,D3,D6	500489	continuous_repair_20261008_045525	nuclear_20260923	15
lof_cds	Chr7	28892670	AT	A	INDEL	1bp_deletion	frameshift_variant	LOC130995873	SmilChr07G002868	130995873	rna-XM_057921343.1,rna-XM_057921344.1,rna-XM_057921345.1,rna-XM_057921347.1,rna-XM_057921348.1,rna-XM_057921349.1,rna-XM_057921350.1,rna-XM_057921351.1,rna-XM_057921352.1	43	A1,A16,A3,A5,A8,B103,B109,B113,B123,B131,B134,B21,B37,B40,B45,B50,B55,B57,B59,B61,B64,B7,B76,B79,B82,B93,C10,C13,C23,C28,C29,C36,C38,C4,C42,C43,C53,C76,C79,C9,D1,D2,D8	738301	continuous_repair_20261008_045525	nuclear_20260923	15
