source	chrom	pos	ref	alt	variant_type	ems_class	effect	gene_id	standard_gene_id	ncbi_geneid	transcripts	carrier_n	carriers
typical_cds_rare	Chr7	51078253	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130994351	SmilChr07G004001	130994351	rna-XM_057919398.1	1	C20
typical_cds_rare	Chr7	51078256	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130994351	SmilChr07G004001	130994351	rna-XM_057919398.1	2	B129,B51
typical_cds_rare	Chr7	51078355	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130994351	SmilChr07G004001	130994351	rna-XM_057919398.1	1	B89
typical_cds_rare	Chr7	51078530	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130994351	SmilChr07G004001	130994351	rna-XM_057919398.1	2	C18,C37
lof_cds	Chr7	51078612	TTG	T	INDEL	2bp_deletion	frameshift_variant	LOC130994351	SmilChr07G004001	130994351	rna-XM_057919398.1	1	B132
typical_cds_rare	Chr7	51078612	TTG	T	INDEL	2bp_deletion	CDS_variant	LOC130994351	SmilChr07G004001	130994351	rna-XM_057919398.1	1	B132
typical_cds_rare	Chr7	51078637	G	A	SNV	EMS_canonical_SNV	CDS_variant	LOC130994351	SmilChr07G004001	130994351	rna-XM_057919398.1	4	B32,B79,C18,C86
lof_cds	Chr7	51079603	T	TG	INDEL	1bp_insertion	frameshift_variant	LOC130994351	SmilChr07G004001	130994351	rna-XM_057919398.1	8	A22,B110,B47,B61,C50,C52,C9,D3
lof_cds	Chr7	51079752	G	A	SNV	EMS_canonical_SNV	stop_gained	LOC130994351	SmilChr07G004001	130994351	rna-XM_057919398.1	24	A24,B112,B124,B127,B132,B25,B28,B46,B6,B63,B68,B71,B80,B83,B98,C16,C35,C44,C46,C48,C56,C63,C71,C77
typical_cds_rare	Chr7	51079944	C	T	SNV	EMS_canonical_SNV	CDS_variant	LOC130994351	SmilChr07G004001	130994351	rna-XM_057919398.1	1	B104