#Uploaded_variation	Location	Allele	Consequence	IMPACT	SYMBOL	Gene	Feature_type	Feature	BIOTYPE	EXON	INTRON	HGVSc	HGVSp	cDNA_position	CDS_position	Protein_position	Amino_acids	Codons	Existing_variation	REF_ALLELE	UPLOADED_ALLELE	DISTANCE	STRAND	FLAGS	SYMBOL_SOURCE	HGNC_ID	CANONICAL	MANE	MANE_SELECT	MANE_PLUS_CLINICAL	TSL	APPRIS	SOURCE	SIFT	PolyPhen	HGVS_OFFSET	gnomADe_AF	gnomADe_AFR_AF	gnomADe_AMR_AF	gnomADe_ASJ_AF	gnomADe_EAS_AF	gnomADe_FIN_AF	gnomADe_MID_AF	gnomADe_NFE_AF	gnomADe_REMAINING_AF	gnomADe_SAS_AF	gnomADg_AF	gnomADg_AFR_AF	gnomADg_AMI_AF	gnomADg_AMR_AF	gnomADg_ASJ_AF	gnomADg_EAS_AF	gnomADg_FIN_AF	gnomADg_MID_AF	gnomADg_NFE_AF	gnomADg_REMAINING_AF	gnomADg_SAS_AF	CLIN_SIG	SOMATIC	PHENO	MOTIF_NAME	MOTIF_POS	HIGH_INF_POS	MOTIF_SCORE_CHANGE	TRANSCRIPTION_FACTORS	am_class	am_pathogenicity	GENCODE_promoter	GENCODE_promoter_type	GENCODE_promoter_feature_id	GENCODE_promoter_associated_gene
.	17:826161-826161	T	intron_variant	MODIFIER	NXN	ENSG00000167693	Transcript	ENST00000336868.8	protein_coding	-	1/7	ENST00000336868.8:c.361-83C>A	-	-	-	-	-	-	rs1312686437	G	G/T	-	-1	-	HGNC	HGNC:18008	YES	MANE_Select	NM_022463.5	-	1	P1	-	-	-	-	5.353e-06	0	0	0	0	0	0	6.512e-06	2.71e-05	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:826161-826161	T	intron_variant	MODIFIER	NXN	ENSG00000167693	Transcript	ENST00000537628.6	protein_coding	-	1/7	ENST00000537628.6:c.-387-83C>A	-	-	-	-	-	-	rs1312686437	G	G/T	-	-1	-	HGNC	HGNC:18008	-	-	-	-	3	-	-	-	-	-	5.353e-06	0	0	0	0	0	0	6.512e-06	2.71e-05	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:826161-826161	T	intron_variant,non_coding_transcript_variant	MODIFIER	NXN	ENSG00000167693	Transcript	ENST00000571338.1	protein_coding_CDS_not_defined	-	1/2	ENST00000571338.1:n.390-83C>A	-	-	-	-	-	-	rs1312686437	G	G/T	-	-1	-	HGNC	HGNC:18008	-	-	-	-	4	-	-	-	-	-	5.353e-06	0	0	0	0	0	0	6.512e-06	2.71e-05	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:826161-826161	T	upstream_gene_variant	MODIFIER	NXN	ENSG00000167693	Transcript	ENST00000571684.5	protein_coding	-	-	-	-	-	-	-	-	-	rs1312686437	G	G/T	160	-1	cds_start_NF	HGNC	HGNC:18008	-	-	-	-	3	-	-	-	-	-	5.353e-06	0	0	0	0	0	0	6.512e-06	2.71e-05	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:826161-826161	T	intron_variant,non_coding_transcript_variant	MODIFIER	NXN	ENSG00000167693	Transcript	ENST00000575171.1	retained_intron	-	1/1	ENST00000575171.1:n.32-83C>A	-	-	-	-	-	-	rs1312686437	G	G/T	-	-1	-	HGNC	HGNC:18008	-	-	-	-	2	-	-	-	-	-	5.353e-06	0	0	0	0	0	0	6.512e-06	2.71e-05	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:826161-826161	T	intron_variant,non_coding_transcript_variant	MODIFIER	NXN	ENSG00000167693	Transcript	ENST00000575455.5	retained_intron	-	1/4	ENST00000575455.5:n.130-83C>A	-	-	-	-	-	-	rs1312686437	G	G/T	-	-1	-	HGNC	HGNC:18008	-	-	-	-	1	-	-	-	-	-	5.353e-06	0	0	0	0	0	0	6.512e-06	2.71e-05	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:826161-826161	T	intron_variant	MODIFIER	NXN	ENSG00000167693	Transcript	ENST00000575801.5	protein_coding	-	1/7	ENST00000575801.5:c.37-83C>A	-	-	-	-	-	-	rs1312686437	G	G/T	-	-1	-	HGNC	HGNC:18008	-	-	-	-	1	-	-	-	-	-	5.353e-06	0	0	0	0	0	0	6.512e-06	2.71e-05	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:826161-826161	T	intron_variant,non_coding_transcript_variant	MODIFIER	NXN	ENSG00000167693	Transcript	ENST00000577098.5	protein_coding_CDS_not_defined	-	2/3	ENST00000577098.5:n.422-83C>A	-	-	-	-	-	-	rs1312686437	G	G/T	-	-1	-	HGNC	HGNC:18008	-	-	-	-	3	-	-	-	-	-	5.353e-06	0	0	0	0	0	0	6.512e-06	2.71e-05	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000254722.9	protein_coding	7/8	-	ENST00000254722.9:c.795G>T	ENSP00000254722.4:p.Gln265His	857	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	YES	MANE_Select	NM_002615.7	-	1	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000305513.12	protein_coding	-	-	-	-	-	-	-	-	-	COSV99628670	G	G/T	2945	-1	-	HGNC	HGNC:21067	YES	MANE_Select	NM_052928.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	downstream_gene_variant	MODIFIER	SERPINF1	ENSG00000132386	Transcript	ENST00000570820.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV99628670	G	G/T	4508	1	-	HGNC	HGNC:8824	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	downstream_gene_variant	MODIFIER	SERPINF1	ENSG00000132386	Transcript	ENST00000571870.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	COSV99628670	G	G/T	4610	1	-	HGNC	HGNC:8824	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000572048.1	protein_coding	3/3	-	ENST00000572048.1:c.234G>T	ENSP00000458484.1:p.Gln78His	509	234	78	Q/H	caG/caT	COSV99628670	G	G/T	-	1	cds_end_NF	HGNC	HGNC:8824	-	-	-	-	2	-	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	non_coding_transcript_exon_variant	MODIFIER	SERPINF1	ENSG00000132386	Transcript	ENST00000572517.1	retained_intron	1/2	-	ENST00000572517.1:n.91G>T	-	91	-	-	-	-	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000573763.1	protein_coding	3/4	-	ENST00000573763.1:c.189G>T	ENSP00000461405.1:p.Gln63His	504	189	63	Q/H	caG/caT	COSV99628670	G	G/T	-	1	cds_end_NF	HGNC	HGNC:8824	-	-	-	-	3	-	-	deleterious(0)	benign(0.082)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	downstream_gene_variant	MODIFIER	SERPINF1	ENSG00000132386	Transcript	ENST00000573770.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV99628670	G	G/T	4568	1	-	HGNC	HGNC:8824	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000576406.5	protein_coding	6/6	-	ENST00000576406.5:c.234G>T	ENSP00000461214.1:p.Gln78His	757	234	78	Q/H	caG/caT	COSV99628670	G	G/T	-	1	cds_end_NF	HGNC	HGNC:8824	-	-	-	-	3	-	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000295186	Transcript	ENST00000728537.1	lncRNA	-	1/1	ENST00000728537.1:n.76+928G>T	-	-	-	-	-	-	COSV99628670	G	G/T	-	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000862287.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99628670	G	G/T	3014	-1	-	HGNC	HGNC:21067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869424.1	protein_coding	7/8	-	ENST00000869424.1:c.795G>T	ENSP00000539483.1:p.Gln265His	938	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	splice_acceptor_variant	HIGH	SERPINF1	ENSG00000132386	Transcript	ENST00000869425.1	protein_coding	-	6/7	ENST00000869425.1:c.787-1G>T	-	-	-	-	-	-	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869426.1	protein_coding	7/8	-	ENST00000869426.1:c.795G>T	ENSP00000539485.1:p.Gln265His	921	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869427.1	protein_coding	8/9	-	ENST00000869427.1:c.795G>T	ENSP00000539486.1:p.Gln265His	949	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869428.1	protein_coding	7/8	-	ENST00000869428.1:c.795G>T	ENSP00000539487.1:p.Gln265His	1132	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869429.1	protein_coding	8/9	-	ENST00000869429.1:c.795G>T	ENSP00000539488.1:p.Gln265His	986	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869430.1	protein_coding	7/8	-	ENST00000869430.1:c.795G>T	ENSP00000539489.1:p.Gln265His	1101	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869431.1	protein_coding	7/8	-	ENST00000869431.1:c.753G>T	ENSP00000539490.1:p.Gln251His	840	753	251	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869432.1	protein_coding	8/9	-	ENST00000869432.1:c.795G>T	ENSP00000539491.1:p.Gln265His	1030	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869433.1	protein_coding	7/8	-	ENST00000869433.1:c.795G>T	ENSP00000539492.1:p.Gln265His	1022	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869434.1	protein_coding	7/8	-	ENST00000869434.1:c.795G>T	ENSP00000539493.1:p.Gln265His	1030	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869435.1	protein_coding	6/7	-	ENST00000869435.1:c.795G>T	ENSP00000539494.1:p.Gln265His	875	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000928382.1	protein_coding	8/9	-	ENST00000928382.1:c.795G>T	ENSP00000598441.1:p.Gln265His	994	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000954771.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99628670	G	G/T	4205	-1	-	HGNC	HGNC:21067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000954772.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99628670	G	G/T	4398	-1	-	HGNC	HGNC:21067	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000954773.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99628670	G	G/T	4561	-1	-	HGNC	HGNC:21067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000954774.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99628670	G	G/T	4398	-1	-	HGNC	HGNC:21067	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000960886.1	protein_coding	8/9	-	ENST00000960886.1:c.795G>T	ENSP00000630945.1:p.Gln265His	917	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000960887.1	protein_coding	7/8	-	ENST00000960887.1:c.795G>T	ENSP00000630946.1:p.Gln265His	857	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776540-1776540	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000960888.1	protein_coding	7/8	-	ENST00000960888.1:c.795G>T	ENSP00000630947.1:p.Gln265His	867	795	265	Q/H	caG/caT	COSV99628670	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.96)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7222	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000254722.9	protein_coding	7/8	-	ENST00000254722.9:c.875G>T	ENSP00000254722.4:p.Ser292Ile	937	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	YES	MANE_Select	NM_002615.7	-	1	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000305513.12	protein_coding	-	-	-	-	-	-	-	-	-	COSV54618161	G	G/T	2865	-1	-	HGNC	HGNC:21067	YES	MANE_Select	NM_052928.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	downstream_gene_variant	MODIFIER	SERPINF1	ENSG00000132386	Transcript	ENST00000570820.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV54618161	G	G/T	4588	1	-	HGNC	HGNC:8824	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	downstream_gene_variant	MODIFIER	SERPINF1	ENSG00000132386	Transcript	ENST00000571870.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	COSV54618161	G	G/T	4690	1	-	HGNC	HGNC:8824	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	downstream_gene_variant	MODIFIER	SERPINF1	ENSG00000132386	Transcript	ENST00000572048.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV54618161	G	G/T	16	1	cds_end_NF	HGNC	HGNC:8824	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	non_coding_transcript_exon_variant	MODIFIER	SERPINF1	ENSG00000132386	Transcript	ENST00000572517.1	retained_intron	1/2	-	ENST00000572517.1:n.171G>T	-	171	-	-	-	-	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000573763.1	protein_coding	3/4	-	ENST00000573763.1:c.269G>T	ENSP00000461405.1:p.Ser90Ile	584	269	90	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	cds_end_NF	HGNC	HGNC:8824	-	-	-	-	3	-	-	deleterious(0)	benign(0.194)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	downstream_gene_variant	MODIFIER	SERPINF1	ENSG00000132386	Transcript	ENST00000573770.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV54618161	G	G/T	4648	1	-	HGNC	HGNC:8824	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	downstream_gene_variant	MODIFIER	SERPINF1	ENSG00000132386	Transcript	ENST00000576406.5	protein_coding	-	-	-	-	-	-	-	-	-	COSV54618161	G	G/T	42	1	cds_end_NF	HGNC	HGNC:8824	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000295186	Transcript	ENST00000728537.1	lncRNA	-	1/1	ENST00000728537.1:n.76+1008G>T	-	-	-	-	-	-	COSV54618161	G	G/T	-	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000862287.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV54618161	G	G/T	2934	-1	-	HGNC	HGNC:21067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869424.1	protein_coding	7/8	-	ENST00000869424.1:c.875G>T	ENSP00000539483.1:p.Ser292Ile	1018	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869425.1	protein_coding	7/8	-	ENST00000869425.1:c.866G>T	ENSP00000539484.1:p.Ser289Ile	1005	866	289	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869426.1	protein_coding	7/8	-	ENST00000869426.1:c.875G>T	ENSP00000539485.1:p.Ser292Ile	1001	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869427.1	protein_coding	8/9	-	ENST00000869427.1:c.875G>T	ENSP00000539486.1:p.Ser292Ile	1029	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869428.1	protein_coding	7/8	-	ENST00000869428.1:c.875G>T	ENSP00000539487.1:p.Ser292Ile	1212	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869429.1	protein_coding	8/9	-	ENST00000869429.1:c.875G>T	ENSP00000539488.1:p.Ser292Ile	1066	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869430.1	protein_coding	7/8	-	ENST00000869430.1:c.875G>T	ENSP00000539489.1:p.Ser292Ile	1181	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869431.1	protein_coding	7/8	-	ENST00000869431.1:c.833G>T	ENSP00000539490.1:p.Ser278Ile	920	833	278	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869432.1	protein_coding	8/9	-	ENST00000869432.1:c.875G>T	ENSP00000539491.1:p.Ser292Ile	1110	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869433.1	protein_coding	7/8	-	ENST00000869433.1:c.875G>T	ENSP00000539492.1:p.Ser292Ile	1102	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869434.1	protein_coding	7/8	-	ENST00000869434.1:c.875G>T	ENSP00000539493.1:p.Ser292Ile	1110	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000869435.1	protein_coding	6/7	-	ENST00000869435.1:c.875G>T	ENSP00000539494.1:p.Ser292Ile	955	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000928382.1	protein_coding	8/9	-	ENST00000928382.1:c.875G>T	ENSP00000598441.1:p.Ser292Ile	1074	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000954771.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV54618161	G	G/T	4125	-1	-	HGNC	HGNC:21067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000954772.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV54618161	G	G/T	4318	-1	-	HGNC	HGNC:21067	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000954773.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV54618161	G	G/T	4481	-1	-	HGNC	HGNC:21067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000954774.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV54618161	G	G/T	4318	-1	-	HGNC	HGNC:21067	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000960886.1	protein_coding	8/9	-	ENST00000960886.1:c.875G>T	ENSP00000630945.1:p.Ser292Ile	997	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000960887.1	protein_coding	7/8	-	ENST00000960887.1:c.875G>T	ENSP00000630946.1:p.Ser292Ile	937	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:1776620-1776620	T	missense_variant	MODERATE	SERPINF1	ENSG00000132386	Transcript	ENST00000960888.1	protein_coding	7/8	-	ENST00000960888.1:c.875G>T	ENSP00000630947.1:p.Ser292Ile	947	875	292	S/I	aGc/aTc	COSV54618161	G	G/T	-	1	-	HGNC	HGNC:8824	-	-	-	-	-	P3	-	deleterious(0)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_pathogenic	0.7606	-	-	-	-
.	17:2172523-2172523	T	intron_variant	MODIFIER	SMG6	ENSG00000070366	Transcript	ENST00000263073.11	protein_coding	-	13/18	ENST00000263073.11:c.3357+135C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17809	YES	MANE_Select	NM_017575.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2172523-2172523	T	intron_variant	MODIFIER	SMG6	ENSG00000070366	Transcript	ENST00000354901.8	protein_coding	-	6/11	ENST00000354901.8:c.633+135C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17809	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2172523-2172523	T	intron_variant	MODIFIER	SMG6	ENSG00000070366	Transcript	ENST00000536871.6	protein_coding	-	5/10	ENST00000536871.6:c.633+135C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17809	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2172523-2172523	T	downstream_gene_variant	MODIFIER	SMG6	ENSG00000070366	Transcript	ENST00000570659.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	279	-1	cds_end_NF	HGNC	HGNC:17809	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2172523-2172523	T	intron_variant,non_coding_transcript_variant	MODIFIER	SMG6	ENSG00000070366	Transcript	ENST00000570874.1	retained_intron	-	1/1	ENST00000570874.1:n.414+135C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17809	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2172523-2172523	T	downstream_gene_variant	MODIFIER	SMG6	ENSG00000070366	Transcript	ENST00000571442.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	274	-1	cds_end_NF	HGNC	HGNC:17809	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2172523-2172523	T	downstream_gene_variant	MODIFIER	SMG6	ENSG00000070366	Transcript	ENST00000572205.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	214	-1	cds_end_NF	HGNC	HGNC:17809	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2172523-2172523	T	downstream_gene_variant	MODIFIER	SMG6	ENSG00000070366	Transcript	ENST00000572369.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	145	-1	cds_end_NF	HGNC	HGNC:17809	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2172523-2172523	T	downstream_gene_variant	MODIFIER	SMG6	ENSG00000070366	Transcript	ENST00000575176.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	189	-1	cds_end_NF	HGNC	HGNC:17809	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2172523-2172523	T	intron_variant	MODIFIER	SMG6	ENSG00000070366	Transcript	ENST00000575454.1	protein_coding	-	2/4	ENST00000575454.1:c.255+135C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:17809	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2172523-2172523	T	downstream_gene_variant	MODIFIER	SMG6	ENSG00000070366	Transcript	ENST00000575663.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	281	-1	cds_end_NF	HGNC	HGNC:17809	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2172523-2172523	T	intron_variant	MODIFIER	SMG6	ENSG00000070366	Transcript	ENST00000883972.1	protein_coding	-	13/17	ENST00000883972.1:c.3357+135C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17809	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000268989.8	protein_coding	-	3/23	ENST00000268989.8:c.296+96G>T	-	-	-	-	-	-	rs2065325279	G	G/T	-	1	-	HGNC	HGNC:29026	YES	MANE_Select	NM_014853.3	-	1	P4	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000426855.6	protein_coding	-	3/22	ENST00000426855.6:c.296+96G>T	-	-	-	-	-	-	rs2065325279	G	G/T	-	1	-	HGNC	HGNC:29026	-	-	-	-	1	A1	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	upstream_gene_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000570431.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2065325279	G	G/T	1667	1	cds_end_NF	HGNC	HGNC:29026	-	-	-	-	3	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	intron_variant,NMD_transcript_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000572875.1	nonsense_mediated_decay	-	2/2	ENST00000572875.1:c.*130+96G>T	-	-	-	-	-	-	rs2065325279	G	G/T	-	1	-	HGNC	HGNC:29026	-	-	-	-	3	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	intron_variant,NMD_transcript_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000573062.5	nonsense_mediated_decay	-	3/8	ENST00000573062.5:c.296+96G>T	-	-	-	-	-	-	rs2065325279	G	G/T	-	1	-	HGNC	HGNC:29026	-	-	-	-	2	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000574563.5	protein_coding	-	3/22	ENST00000574563.5:c.296+96G>T	-	-	-	-	-	-	rs2065325279	G	G/T	-	1	-	HGNC	HGNC:29026	-	-	-	-	2	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000574650.1	protein_coding	-	1/2	ENST00000574650.1:c.23+96G>T	-	-	-	-	-	-	rs2065325279	G	G/T	-	1	cds_start_NF	HGNC	HGNC:29026	-	-	-	-	3	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	upstream_gene_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000574857.1	retained_intron	-	-	-	-	-	-	-	-	-	rs2065325279	G	G/T	1950	1	-	HGNC	HGNC:29026	-	-	-	-	2	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	upstream_gene_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000575367.1	retained_intron	-	-	-	-	-	-	-	-	-	rs2065325279	G	G/T	4633	1	-	HGNC	HGNC:29026	-	-	-	-	4	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	downstream_gene_variant	MODIFIER	-	ENSG00000274758	Transcript	ENST00000611041.1	lncRNA	-	-	-	-	-	-	-	-	-	rs2065325279	G	G/T	4694	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000930413.1	protein_coding	-	3/20	ENST00000930413.1:c.296+96G>T	-	-	-	-	-	-	rs2065325279	G	G/T	-	1	-	HGNC	HGNC:29026	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000930414.1	protein_coding	-	3/23	ENST00000930414.1:c.296+96G>T	-	-	-	-	-	-	rs2065325279	G	G/T	-	1	-	HGNC	HGNC:29026	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000968832.1	protein_coding	-	4/23	ENST00000968832.1:c.434+96G>T	-	-	-	-	-	-	rs2065325279	G	G/T	-	1	-	HGNC	HGNC:29026	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2361895-2361895	T	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000968833.1	protein_coding	-	3/23	ENST00000968833.1:c.296+96G>T	-	-	-	-	-	-	rs2065325279	G	G/T	-	1	-	HGNC	HGNC:29026	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000268989.8	protein_coding	-	8/23	ENST00000268989.8:c.933-139T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:29026	YES	MANE_Select	NM_014853.3	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000426855.6	protein_coding	-	8/22	ENST00000426855.6:c.933-139T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:29026	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000570431.1	protein_coding	-	2/3	ENST00000570431.1:c.117-139T>G	-	-	-	-	-	-	-	T	T/G	-	1	cds_end_NF	HGNC	HGNC:29026	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	downstream_gene_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000572875.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	T	T/G	2300	1	-	HGNC	HGNC:29026	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	intron_variant,NMD_transcript_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000573062.5	nonsense_mediated_decay	-	7/8	ENST00000573062.5:c.*65-139T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:29026	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000574563.5	protein_coding	-	8/22	ENST00000574563.5:c.933-139T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:29026	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	downstream_gene_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000574650.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/G	1412	1	cds_start_NF	HGNC	HGNC:29026	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	non_coding_transcript_exon_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000574857.1	retained_intron	1/4	-	ENST00000574857.1:n.613T>G	-	613	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:29026	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	upstream_gene_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000575367.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/G	2071	1	-	HGNC	HGNC:29026	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	downstream_gene_variant	MODIFIER	-	ENSG00000274758	Transcript	ENST00000611041.1	lncRNA	-	-	-	-	-	-	-	-	-	-	T	T/G	2132	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000930413.1	protein_coding	-	8/20	ENST00000930413.1:c.933-139T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:29026	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000930414.1	protein_coding	-	9/23	ENST00000930414.1:c.998+81T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:29026	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000968832.1	protein_coding	-	9/23	ENST00000968832.1:c.1071-139T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:29026	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2364457-2364457	G	intron_variant	MODIFIER	SGSM2	ENSG00000141258	Transcript	ENST00000968833.1	protein_coding	-	8/23	ENST00000968833.1:c.933-139T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:29026	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2587136-2587136	A	non_coding_transcript_exon_variant	MODIFIER	EIF4A1P9	ENSG00000262953	Transcript	ENST00000576035.1	processed_pseudogene	1/2	-	ENST00000576035.1:n.731G>T	-	731	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:37928	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2587136-2587136	A	downstream_gene_variant	MODIFIER	-	ENSG00000299795	Transcript	ENST00000766425.1	lncRNA	-	-	-	-	-	-	-	-	-	-	C	C/A	4228	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2587136-2587136	A	downstream_gene_variant	MODIFIER	-	ENSG00000299795	Transcript	ENST00000766427.1	lncRNA	-	-	-	-	-	-	-	-	-	-	C	C/A	4122	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	intron_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000435359.5	protein_coding	-	10/25	ENST00000435359.5:c.1847+146C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29094	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	intron_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000570628.6	protein_coding	-	10/25	ENST00000570628.6:c.1847+146C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29094	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	downstream_gene_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000571539.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3364	-1	-	HGNC	HGNC:29094	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	upstream_gene_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000572014.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3596	-1	-	HGNC	HGNC:29094	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	downstream_gene_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000572129.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	798	-1	cds_start_NF,cds_end_NF	HGNC	HGNC:29094	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	upstream_gene_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000573641.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2051	-1	-	HGNC	HGNC:29094	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	upstream_gene_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000574166.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2147	-1	-	HGNC	HGNC:29094	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	upstream_gene_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000574210.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2801	-1	-	HGNC	HGNC:29094	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	intron_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000574426.7	protein_coding	-	10/24	ENST00000574426.7:c.1961+146C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29094	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	intron_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000575014.5	protein_coding	-	9/24	ENST00000575014.5:c.1668+146C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:29094	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	upstream_gene_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000575624.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1277	-1	-	HGNC	HGNC:29094	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	downstream_gene_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000576885.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4175	-1	cds_end_NF	HGNC	HGNC:29094	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	upstream_gene_variant	MODIFIER	MIR6776	ENSG00000273606	Transcript	ENST00000616678.1	miRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4831	-1	-	HGNC	HGNC:50193	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	intron_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000651024.2	protein_coding	-	10/25	ENST00000651024.2:c.1961+146C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29094	YES	MANE_Select	NM_001366661.1	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	intron_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000876316.1	protein_coding	-	10/25	ENST00000876316.1:c.1961+146C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29094	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	intron_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000876317.1	protein_coding	-	10/25	ENST00000876317.1:c.1979+146C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29094	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	intron_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000876318.1	protein_coding	-	10/25	ENST00000876318.1:c.1979+146C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29094	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	intron_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000923739.1	protein_coding	-	10/25	ENST00000923739.1:c.1976+146C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29094	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	intron_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000923740.1	protein_coding	-	10/25	ENST00000923740.1:c.1952+146C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29094	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2697750-2697750	T	intron_variant	MODIFIER	CLUH	ENSG00000132361	Transcript	ENST00000923741.1	protein_coding	-	10/25	ENST00000923741.1:c.1976+146C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29094	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2905426-2905426	T	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000254695.13	protein_coding	-	3/24	ENST00000254695.13:c.165+58C>T	-	-	-	-	-	-	rs1393751630	C	C/T	-	1	-	HGNC	HGNC:29176	YES	MANE_Select	NM_015085.5	-	1	A1	-	-	-	-	1.434e-06	0	0	0	5.207e-05	0	0	0	0	0	6.573e-06	0	0	0	0	0.0001928	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2905426-2905426	T	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000366401.8	protein_coding	-	3/23	ENST00000366401.8:c.165+58C>T	-	-	-	-	-	-	rs1393751630	C	C/T	-	1	-	HGNC	HGNC:29176	-	-	-	-	1	-	-	-	-	-	1.434e-06	0	0	0	5.207e-05	0	0	0	0	0	6.573e-06	0	0	0	0	0.0001928	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2905426-2905426	T	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000540393.6	protein_coding	-	3/24	ENST00000540393.6:c.108+58C>T	-	-	-	-	-	-	rs1393751630	C	C/T	-	1	-	HGNC	HGNC:29176	-	-	-	-	5	-	-	-	-	-	1.434e-06	0	0	0	5.207e-05	0	0	0	0	0	6.573e-06	0	0	0	0	0.0001928	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2905426-2905426	T	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000637138.1	protein_coding	-	4/25	ENST00000637138.1:c.288+58C>T	-	-	-	-	-	-	rs1393751630	C	C/T	-	1	-	HGNC	HGNC:29176	-	-	-	-	5	-	-	-	-	-	1.434e-06	0	0	0	5.207e-05	0	0	0	0	0	6.573e-06	0	0	0	0	0.0001928	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2905426-2905426	T	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000697391.1	protein_coding	-	2/23	ENST00000697391.1:c.192+58C>T	-	-	-	-	-	-	rs1393751630	C	C/T	-	1	-	HGNC	HGNC:29176	-	-	-	-	-	P4	-	-	-	-	1.434e-06	0	0	0	5.207e-05	0	0	0	0	0	6.573e-06	0	0	0	0	0.0001928	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2905426-2905426	T	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000905763.1	protein_coding	-	3/20	ENST00000905763.1:c.165+58C>T	-	-	-	-	-	-	rs1393751630	C	C/T	-	1	-	HGNC	HGNC:29176	-	-	-	-	-	-	-	-	-	-	1.434e-06	0	0	0	5.207e-05	0	0	0	0	0	6.573e-06	0	0	0	0	0.0001928	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2991580-2991580	A	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000254695.13	protein_coding	-	12/24	ENST00000254695.13:c.914+183G>A	-	-	-	-	-	-	-	G	G/A	-	1	-	HGNC	HGNC:29176	YES	MANE_Select	NM_015085.5	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2991580-2991580	A	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000366401.8	protein_coding	-	11/23	ENST00000366401.8:c.869+183G>A	-	-	-	-	-	-	-	G	G/A	-	1	-	HGNC	HGNC:29176	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2991580-2991580	A	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000540393.6	protein_coding	-	12/24	ENST00000540393.6:c.857+183G>A	-	-	-	-	-	-	-	G	G/A	-	1	-	HGNC	HGNC:29176	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2991580-2991580	A	intron_variant,non_coding_transcript_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000574515.1	protein_coding_CDS_not_defined	-	1/5	ENST00000574515.1:n.53+183G>A	-	-	-	-	-	-	-	G	G/A	-	1	-	HGNC	HGNC:29176	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2991580-2991580	A	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000637138.1	protein_coding	-	13/25	ENST00000637138.1:c.1037+183G>A	-	-	-	-	-	-	-	G	G/A	-	1	-	HGNC	HGNC:29176	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2991580-2991580	A	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000697391.1	protein_coding	-	11/23	ENST00000697391.1:c.941+183G>A	-	-	-	-	-	-	-	G	G/A	-	1	-	HGNC	HGNC:29176	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2991580-2991580	A	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000697392.1	protein_coding	-	10/22	ENST00000697392.1:c.773+183G>A	-	-	-	-	-	-	-	G	G/A	-	1	-	HGNC	HGNC:29176	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:2991580-2991580	A	intron_variant	MODIFIER	RAP1GAP2	ENSG00000132359	Transcript	ENST00000905763.1	protein_coding	-	10/20	ENST00000905763.1:c.833+183G>A	-	-	-	-	-	-	-	G	G/A	-	1	-	HGNC	HGNC:29176	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:3433669-3433669	T	missense_variant	MODERATE	OR1E2	ENSG00000127780	Transcript	ENST00000248384.1	protein_coding	1/1	-	ENST00000248384.1:c.173C>A	ENSP00000248384.1:p.Pro58His	173	173	58	P/H	cCt/cAt	-	G	G/T	-	-1	-	HGNC	HGNC:8190	YES	MANE_Select	NM_003554.2	-	-	P1	-	deleterious_low_confidence(0)	probably_damaging(0.981)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2436	-	-	-	-
.	17:3611105-3611105	T	intron_variant	MODIFIER	SHPK	ENSG00000197417	Transcript	ENST00000225519.5	protein_coding	-	6/6	ENST00000225519.5:c.1025-133C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1492	YES	MANE_Select	NM_013276.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:3611105-3611105	T	upstream_gene_variant	MODIFIER	TRPV1	ENSG00000196689	Transcript	ENST00000572705.2	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1694	-1	-	HGNC	HGNC:12716	YES	MANE_Select	NM_080704.4	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4189200-4189200	G	intron_variant	MODIFIER	ANKFY1	ENSG00000185722	Transcript	ENST00000341657.9	protein_coding	-	11/24	ENST00000341657.9:c.1470+182T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:20763	YES	MANE_Select	NM_001330063.2	-	5	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4189200-4189200	G	downstream_gene_variant	MODIFIER	Y_RNA	ENSG00000251812	Transcript	ENST00000516003.1	misc_RNA	-	-	-	-	-	-	-	-	-	-	A	A/G	2776	1	-	RFAM	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4189200-4189200	G	intron_variant	MODIFIER	ANKFY1	ENSG00000185722	Transcript	ENST00000570535.5	protein_coding	-	11/24	ENST00000570535.5:c.1596+182T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:20763	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4189200-4189200	G	intron_variant,NMD_transcript_variant	MODIFIER	ANKFY1	ENSG00000185722	Transcript	ENST00000572412.5	nonsense_mediated_decay	-	10/23	ENST00000572412.5:c.*1141+182T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:20763	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4189200-4189200	G	intron_variant,non_coding_transcript_variant	MODIFIER	ANKFY1	ENSG00000185722	Transcript	ENST00000573722.1	protein_coding_CDS_not_defined	-	2/2	ENST00000573722.1:n.247+182T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:20763	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4189200-4189200	G	downstream_gene_variant	MODIFIER	CYB5D2	ENSG00000167740	Transcript	ENST00000573984.1	protein_coding	-	-	-	-	-	-	-	-	-	-	A	A/G	1890	1	-	HGNC	HGNC:28471	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4189200-4189200	G	intron_variant	MODIFIER	ANKFY1	ENSG00000185722	Transcript	ENST00000574367.5	protein_coding	-	11/24	ENST00000574367.5:c.1470+182T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:20763	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4189200-4189200	G	upstream_gene_variant	MODIFIER	ANKFY1	ENSG00000185722	Transcript	ENST00000574736.1	protein_coding	-	-	-	-	-	-	-	-	-	-	A	A/G	2091	-1	cds_end_NF	HGNC	HGNC:20763	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4189200-4189200	G	upstream_gene_variant	MODIFIER	ANKFY1	ENSG00000185722	Transcript	ENST00000575509.1	retained_intron	-	-	-	-	-	-	-	-	-	-	A	A/G	331	-1	-	HGNC	HGNC:20763	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4189200-4189200	G	intron_variant,NMD_transcript_variant	MODIFIER	ANKFY1	ENSG00000185722	Transcript	ENST00000648043.1	nonsense_mediated_decay	-	11/25	ENST00000648043.1:c.1470+182T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:20763	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4189200-4189200	G	intron_variant	MODIFIER	ANKFY1	ENSG00000185722	Transcript	ENST00000918777.1	protein_coding	-	11/24	ENST00000918777.1:c.1470+182T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:20763	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000254718.9	protein_coding	-	15/25	ENST00000254718.9:c.2073+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	YES	MANE_Select	NM_014520.4	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000381556.6	protein_coding	-	15/26	ENST00000381556.6:c.2073+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	5	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000571354.1	retained_intron	-	2/3	ENST00000571354.1:n.239+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	upstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000571368.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2272	-1	-	HGNC	HGNC:7546	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	upstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000572759.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	445	-1	cds_start_NF	HGNC	HGNC:7546	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000573116.5	protein_coding	-	14/25	ENST00000573116.5:c.1831+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:7546	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	downstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000573175.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2114	-1	-	HGNC	HGNC:7546	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000573723.1	protein_coding	-	4/5	ENST00000573723.1:c.398+2583C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF,cds_end_NF	HGNC	HGNC:7546	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	upstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000574167.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3673	-1	-	HGNC	HGNC:7546	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	upstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000574547.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	876	-1	-	HGNC	HGNC:7546	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	upstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000574934.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3148	-1	-	HGNC	HGNC:7546	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	upstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000575662.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3471	-1	-	HGNC	HGNC:7546	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000896003.1	protein_coding	-	11/21	ENST00000896003.1:c.1380+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000896004.1	protein_coding	-	15/25	ENST00000896004.1:c.2073+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000896005.1	protein_coding	-	15/25	ENST00000896005.1:c.2004+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000932210.1	protein_coding	-	15/25	ENST00000932210.1:c.2064+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000932211.1	protein_coding	-	15/25	ENST00000932211.1:c.2073+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000932212.1	protein_coding	-	15/24	ENST00000932212.1:c.2073+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000932213.1	protein_coding	-	15/25	ENST00000932213.1:c.2118+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000932214.1	protein_coding	-	15/25	ENST00000932214.1:c.2073+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000932215.1	protein_coding	-	15/24	ENST00000932215.1:c.2073+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000932216.1	protein_coding	-	15/25	ENST00000932216.1:c.1884+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545571-4545571	T	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000932217.1	protein_coding	-	15/25	ENST00000932217.1:c.2043+39C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000254718.9	protein_coding	15/26	-	ENST00000254718.9:c.1958A>G	ENSP00000254718.4:p.Glu653Gly	2018	1958	653	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	YES	MANE_Select	NM_014520.4	-	1	P4	-	deleterious(0.01)	probably_damaging(0.993)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.8075	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000381556.6	protein_coding	15/27	-	ENST00000381556.6:c.1958A>G	ENSP00000370968.2:p.Glu653Gly	2020	1958	653	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	5	A2	-	deleterious(0.01)	probably_damaging(0.988)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.8075	-	-	-	-
.	17:4545725-4545725	C	non_coding_transcript_exon_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000571354.1	retained_intron	2/4	-	ENST00000571354.1:n.124A>G	-	124	-	-	-	-	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	upstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000571368.5	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	2426	-1	-	HGNC	HGNC:7546	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	upstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000572759.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	599	-1	cds_start_NF	HGNC	HGNC:7546	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000573116.5	protein_coding	14/26	-	ENST00000573116.5:c.1718A>G	ENSP00000458919.1:p.Glu573Gly	1716	1718	573	E/G	gAg/gGg	-	T	T/C	-	-1	cds_start_NF	HGNC	HGNC:7546	-	-	-	-	1	-	-	deleterious(0.01)	probably_damaging(0.995)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	downstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000573175.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	1960	-1	-	HGNC	HGNC:7546	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	intron_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000573723.1	protein_coding	-	4/5	ENST00000573723.1:c.398+2429A>G	-	-	-	-	-	-	-	T	T/C	-	-1	cds_start_NF,cds_end_NF	HGNC	HGNC:7546	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	upstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000574167.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	3827	-1	-	HGNC	HGNC:7546	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	upstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000574547.5	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	1030	-1	-	HGNC	HGNC:7546	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	upstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000574934.5	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	3302	-1	-	HGNC	HGNC:7546	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	upstream_gene_variant	MODIFIER	MYBBP1A	ENSG00000132382	Transcript	ENST00000575662.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	3625	-1	-	HGNC	HGNC:7546	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000896003.1	protein_coding	11/22	-	ENST00000896003.1:c.1265A>G	ENSP00000566062.1:p.Glu422Gly	1341	1265	422	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000896004.1	protein_coding	15/26	-	ENST00000896004.1:c.1958A>G	ENSP00000566063.1:p.Glu653Gly	1992	1958	653	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.8075	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000896005.1	protein_coding	15/26	-	ENST00000896005.1:c.1889A>G	ENSP00000566064.1:p.Glu630Gly	1919	1889	630	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000932210.1	protein_coding	15/26	-	ENST00000932210.1:c.1949A>G	ENSP00000602269.1:p.Glu650Gly	2009	1949	650	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000932211.1	protein_coding	15/26	-	ENST00000932211.1:c.1958A>G	ENSP00000602270.1:p.Glu653Gly	2018	1958	653	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.8075	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000932212.1	protein_coding	15/25	-	ENST00000932212.1:c.1958A>G	ENSP00000602271.1:p.Glu653Gly	2017	1958	653	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.8075	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000932213.1	protein_coding	15/26	-	ENST00000932213.1:c.2003A>G	ENSP00000602272.1:p.Glu668Gly	2062	2003	668	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000932214.1	protein_coding	15/26	-	ENST00000932214.1:c.1958A>G	ENSP00000602273.1:p.Glu653Gly	2012	1958	653	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.8075	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000932215.1	protein_coding	15/25	-	ENST00000932215.1:c.1958A>G	ENSP00000602274.1:p.Glu653Gly	1979	1958	653	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.8075	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000932216.1	protein_coding	15/26	-	ENST00000932216.1:c.1769A>G	ENSP00000602275.1:p.Glu590Gly	1790	1769	590	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4545725-4545725	C	missense_variant	MODERATE	MYBBP1A	ENSG00000132382	Transcript	ENST00000932217.1	protein_coding	15/26	-	ENST00000932217.1:c.1928A>G	ENSP00000602276.1:p.Glu643Gly	1987	1928	643	E/G	gAg/gGg	-	T	T/C	-	-1	-	HGNC	HGNC:7546	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	inframe_deletion	MODERATE	PLD2	ENSG00000129219	Transcript	ENST00000263088.11	protein_coding	19/25	-	ENST00000263088.11:c.1988_2002del	ENSP00000263088.5:p.Asp663_Lys667del	2063-2077	1988-2002	663-668	DRILKA/A	gACAGAATCCTGAAGGcc/gcc	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	-	HGNC	HGNC:9068	YES	MANE_Select	NM_002663.5	-	1	P3	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	non_coding_transcript_exon_variant	MODIFIER	PLD2	ENSG00000129219	Transcript	ENST00000571273.5	retained_intron	1/4	-	ENST00000571273.5:n.421_435del	-	421-435	-	-	-	-	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	-	HGNC	HGNC:9068	-	-	-	-	2	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	non_coding_transcript_exon_variant	MODIFIER	PLD2	ENSG00000129219	Transcript	ENST00000572127.1	retained_intron	1/4	-	ENST00000572127.1:n.167_181del	-	167-181	-	-	-	-	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	-	HGNC	HGNC:9068	-	-	-	-	2	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	downstream_gene_variant	MODIFIER	PLD2	ENSG00000129219	Transcript	ENST00000572199.1	retained_intron	-	-	-	-	-	-	-	-	-	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	987	1	-	HGNC	HGNC:9068	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	inframe_deletion	MODERATE	PLD2	ENSG00000129219	Transcript	ENST00000572940.5	protein_coding	19/25	-	ENST00000572940.5:c.1988_2002del	ENSP00000459571.1:p.Asp663_Lys667del	2046-2060	1988-2002	663-668	DRILKA/A	gACAGAATCCTGAAGGcc/gcc	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	-	HGNC	HGNC:9068	-	-	-	-	1	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	downstream_gene_variant	MODIFIER	PLD2	ENSG00000129219	Transcript	ENST00000573258.1	retained_intron	-	-	-	-	-	-	-	-	-	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	1225	1	-	HGNC	HGNC:9068	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	downstream_gene_variant	MODIFIER	PLD2	ENSG00000129219	Transcript	ENST00000574796.1	retained_intron	-	-	-	-	-	-	-	-	-	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	2493	1	-	HGNC	HGNC:9068	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	PLD2	ENSG00000129219	Transcript	ENST00000575246.6	nonsense_mediated_decay	18/18	-	ENST00000575246.6:c.*1826_*1840del	-	2257-2271	-	-	-	-	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	-	HGNC	HGNC:9068	-	-	-	-	2	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	downstream_gene_variant	MODIFIER	PLD2	ENSG00000129219	Transcript	ENST00000575813.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	2808	1	cds_start_NF	HGNC	HGNC:9068	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	upstream_gene_variant	MODIFIER	PLD2	ENSG00000129219	Transcript	ENST00000575945.1	retained_intron	-	-	-	-	-	-	-	-	-	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	3264	1	-	HGNC	HGNC:9068	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	downstream_gene_variant	MODIFIER	PLD2	ENSG00000129219	Transcript	ENST00000576329.1	retained_intron	-	-	-	-	-	-	-	-	-	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	1457	1	-	HGNC	HGNC:9068	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	upstream_gene_variant	MODIFIER	PLD2	ENSG00000129219	Transcript	ENST00000576864.1	protein_coding	-	-	-	-	-	-	-	-	-	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	217	1	cds_start_NF	HGNC	HGNC:9068	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	inframe_deletion	MODERATE	PLD2	ENSG00000129219	Transcript	ENST00000576983.5	protein_coding	2/6	-	ENST00000576983.5:c.182_196del	ENSP00000460250.2:p.Asp61_Lys65del	182-196	182-196	61-66	DRILKA/A	gACAGAATCCTGAAGGcc/gcc	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	cds_start_NF,cds_end_NF	HGNC	HGNC:9068	-	-	-	-	3	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	inframe_deletion	MODERATE	PLD2	ENSG00000129219	Transcript	ENST00000879130.1	protein_coding	19/25	-	ENST00000879130.1:c.1952_1966del	ENSP00000549189.1:p.Asp651_Lys655del	1993-2007	1952-1966	651-656	DRILKA/A	gACAGAATCCTGAAGGcc/gcc	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	-	HGNC	HGNC:9068	-	-	-	-	-	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	intron_variant	MODIFIER	PLD2	ENSG00000129219	Transcript	ENST00000879131.1	protein_coding	-	19/24	ENST00000879131.1:c.1968+20_1968+34del	-	-	-	-	-	-	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	-	HGNC	HGNC:9068	-	-	-	-	-	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	inframe_deletion	MODERATE	PLD2	ENSG00000129219	Transcript	ENST00000879132.1	protein_coding	19/25	-	ENST00000879132.1:c.1988_2002del	ENSP00000549191.1:p.Asp663_Lys667del	2253-2267	1988-2002	663-668	DRILKA/A	gACAGAATCCTGAAGGcc/gcc	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	-	HGNC	HGNC:9068	-	-	-	-	-	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	inframe_deletion	MODERATE	PLD2	ENSG00000129219	Transcript	ENST00000879133.1	protein_coding	18/24	-	ENST00000879133.1:c.1988_2002del	ENSP00000549192.1:p.Asp663_Lys667del	2276-2290	1988-2002	663-668	DRILKA/A	gACAGAATCCTGAAGGcc/gcc	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	-	HGNC	HGNC:9068	-	-	-	-	-	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	inframe_deletion	MODERATE	PLD2	ENSG00000129219	Transcript	ENST00000928900.1	protein_coding	19/25	-	ENST00000928900.1:c.1985_1999del	ENSP00000598959.1:p.Asp662_Lys666del	2025-2039	1985-1999	662-667	DRILKA/A	gACAGAATCCTGAAGGcc/gcc	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	-	HGNC	HGNC:9068	-	-	-	-	-	A1	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	inframe_deletion	MODERATE	PLD2	ENSG00000129219	Transcript	ENST00000964340.1	protein_coding	19/25	-	ENST00000964340.1:c.2045_2059del	ENSP00000634399.1:p.Asp682_Lys686del	2155-2169	2045-2059	682-687	DRILKA/A	gACAGAATCCTGAAGGcc/gcc	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	-	HGNC	HGNC:9068	-	-	-	-	-	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4818361-4818376	-	inframe_deletion	MODERATE	PLD2	ENSG00000129219	Transcript	ENST00000964341.1	protein_coding	19/25	-	ENST00000964341.1:c.1988_2002del	ENSP00000634400.1:p.Asp663_Lys667del	2034-2048	1988-2002	663-668	DRILKA/A	gACAGAATCCTGAAGGcc/gcc	-	GGACAGAATCCTGAA	TGGACAGAATCCTGAA/T	-	1	-	HGNC	HGNC:9068	-	-	-	-	-	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000347992.11	protein_coding	-	1/31	ENST00000347992.11:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000355280.11	protein_coding	-	1/31	ENST00000355280.11:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	YES	MANE_Select	NM_153827.5	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000453408.7	protein_coding	-	1/31	ENST00000453408.7:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant,non_coding_transcript_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000572330.5	retained_intron	-	1/30	ENST00000572330.5:n.242+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant,NMD_transcript_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000574453.5	nonsense_mediated_decay	-	1/31	ENST00000574453.5:c.58-12210G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant,NMD_transcript_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000577021.1	nonsense_mediated_decay	-	1/7	ENST00000577021.1:c.20+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:17565	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000664602.1	protein_coding	-	1/15	ENST00000664602.1:c.40+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF,cds_end_NF	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902221.1	protein_coding	-	1/30	ENST00000902221.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902222.1	protein_coding	-	1/30	ENST00000902222.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902223.1	protein_coding	-	1/31	ENST00000902223.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902224.1	protein_coding	-	1/30	ENST00000902224.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902225.1	protein_coding	-	1/31	ENST00000902225.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902226.1	protein_coding	-	1/30	ENST00000902226.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902227.1	protein_coding	-	1/30	ENST00000902227.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902228.1	protein_coding	-	1/31	ENST00000902228.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902229.1	protein_coding	-	1/31	ENST00000902229.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902230.1	protein_coding	-	1/31	ENST00000902230.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961648.1	protein_coding	-	1/31	ENST00000961648.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961649.1	protein_coding	-	1/30	ENST00000961649.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961650.1	protein_coding	-	1/31	ENST00000961650.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961651.1	protein_coding	-	1/30	ENST00000961651.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961652.1	protein_coding	-	1/30	ENST00000961652.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961653.1	protein_coding	-	1/30	ENST00000961653.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4847003-4847003	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961654.1	protein_coding	-	1/31	ENST00000961654.1:c.57+13363G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000347992.11	protein_coding	-	1/31	ENST00000347992.11:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000355280.11	protein_coding	-	1/31	ENST00000355280.11:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	YES	MANE_Select	NM_153827.5	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000453408.7	protein_coding	-	1/31	ENST00000453408.7:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	upstream_gene_variant	MODIFIER	ATP6V0CP1	ENSG00000230201	Transcript	ENST00000482495.1	processed_pseudogene	-	-	-	-	-	-	-	-	-	-	G	G/T	3311	-1	-	HGNC	HGNC:31323	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant,non_coding_transcript_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000572330.5	retained_intron	-	1/30	ENST00000572330.5:n.243-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant,NMD_transcript_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000574453.5	nonsense_mediated_decay	-	2/31	ENST00000574453.5:c.173+1357G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant,NMD_transcript_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000577021.1	nonsense_mediated_decay	-	1/7	ENST00000577021.1:c.21-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:17565	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000664602.1	protein_coding	-	1/15	ENST00000664602.1:c.41-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF,cds_end_NF	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902221.1	protein_coding	-	1/30	ENST00000902221.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902222.1	protein_coding	-	1/30	ENST00000902222.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902223.1	protein_coding	-	1/31	ENST00000902223.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902224.1	protein_coding	-	1/30	ENST00000902224.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902225.1	protein_coding	-	1/31	ENST00000902225.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902226.1	protein_coding	-	1/30	ENST00000902226.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902227.1	protein_coding	-	1/30	ENST00000902227.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902228.1	protein_coding	-	1/31	ENST00000902228.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902229.1	protein_coding	-	1/31	ENST00000902229.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000902230.1	protein_coding	-	1/31	ENST00000902230.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961648.1	protein_coding	-	1/31	ENST00000961648.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961649.1	protein_coding	-	1/30	ENST00000961649.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961650.1	protein_coding	-	1/31	ENST00000961650.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961651.1	protein_coding	-	1/30	ENST00000961651.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961652.1	protein_coding	-	1/30	ENST00000961652.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961653.1	protein_coding	-	1/30	ENST00000961653.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:4860685-4860685	T	intron_variant	MODIFIER	MINK1	ENSG00000141503	Transcript	ENST00000961654.1	protein_coding	-	1/31	ENST00000961654.1:c.58-17632G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17565	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000320785.10	protein_coding	14/23	-	ENST00000320785.10:c.1298C>T	ENSP00000320821.5:p.Ser433Phe	1653	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	YES	MANE_Select	NM_006612.6	-	1	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	upstream_gene_variant	MODIFIER	KIF1C	ENSG00000129250	Transcript	ENST00000572959.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/T	418	1	-	HGNC	HGNC:6317	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	downstream_gene_variant	MODIFIER	KIF1C	ENSG00000129250	Transcript	ENST00000574165.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/T	4938	1	cds_end_NF	HGNC	HGNC:6317	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894736.1	protein_coding	15/24	-	ENST00000894736.1:c.1298C>T	ENSP00000564795.1:p.Ser433Phe	1943	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894737.1	protein_coding	15/24	-	ENST00000894737.1:c.1298C>T	ENSP00000564796.1:p.Ser433Phe	1802	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894738.1	protein_coding	13/22	-	ENST00000894738.1:c.1298C>T	ENSP00000564797.1:p.Ser433Phe	1557	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894739.1	protein_coding	14/23	-	ENST00000894739.1:c.1292C>T	ENSP00000564798.1:p.Ser431Phe	1658	1292	431	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894740.1	protein_coding	14/23	-	ENST00000894740.1:c.1265C>T	ENSP00000564799.1:p.Ser422Phe	1631	1265	422	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894741.1	protein_coding	15/24	-	ENST00000894741.1:c.1298C>T	ENSP00000564800.1:p.Ser433Phe	1724	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894742.1	protein_coding	14/23	-	ENST00000894742.1:c.1304C>T	ENSP00000564801.1:p.Ser435Phe	1659	1304	435	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894743.1	protein_coding	15/24	-	ENST00000894743.1:c.1298C>T	ENSP00000564802.1:p.Ser433Phe	1775	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894744.1	protein_coding	13/22	-	ENST00000894744.1:c.1232C>T	ENSP00000564803.1:p.Ser411Phe	1580	1232	411	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894745.1	protein_coding	14/23	-	ENST00000894745.1:c.1298C>T	ENSP00000564804.1:p.Ser433Phe	1505	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894746.1	protein_coding	14/23	-	ENST00000894746.1:c.1298C>T	ENSP00000564805.1:p.Ser433Phe	1580	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894747.1	protein_coding	14/23	-	ENST00000894747.1:c.1298C>T	ENSP00000564806.1:p.Ser433Phe	1951	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894748.1	protein_coding	14/23	-	ENST00000894748.1:c.1298C>T	ENSP00000564807.1:p.Ser433Phe	1472	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894749.1	protein_coding	13/22	-	ENST00000894749.1:c.1232C>T	ENSP00000564808.1:p.Ser411Phe	1556	1232	411	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000894750.1	protein_coding	13/22	-	ENST00000894750.1:c.1262C>T	ENSP00000564809.1:p.Ser421Phe	1553	1262	421	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000919364.1	protein_coding	14/23	-	ENST00000919364.1:c.1298C>T	ENSP00000589423.1:p.Ser433Phe	1645	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000919365.1	protein_coding	13/22	-	ENST00000919365.1:c.1298C>T	ENSP00000589424.1:p.Ser433Phe	3335	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000919366.1	protein_coding	14/23	-	ENST00000919366.1:c.1298C>T	ENSP00000589425.1:p.Ser433Phe	1563	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000948909.1	protein_coding	14/23	-	ENST00000948909.1:c.1289C>T	ENSP00000618968.1:p.Ser430Phe	1660	1289	430	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000948910.1	protein_coding	14/23	-	ENST00000948910.1:c.1328C>T	ENSP00000618969.1:p.Ser443Phe	1693	1328	443	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000948911.1	protein_coding	14/23	-	ENST00000948911.1:c.1262C>T	ENSP00000618970.1:p.Ser421Phe	1618	1262	421	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000948912.1	protein_coding	15/24	-	ENST00000948912.1:c.1298C>T	ENSP00000618971.1:p.Ser433Phe	1730	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000948913.1	protein_coding	13/22	-	ENST00000948913.1:c.1328C>T	ENSP00000618972.1:p.Ser443Phe	1534	1328	443	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000948914.1	protein_coding	15/24	-	ENST00000948914.1:c.1298C>T	ENSP00000618973.1:p.Ser433Phe	1698	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000948915.1	protein_coding	14/23	-	ENST00000948915.1:c.1298C>T	ENSP00000618974.1:p.Ser433Phe	1567	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000948916.1	protein_coding	14/23	-	ENST00000948916.1:c.1298C>T	ENSP00000618975.1:p.Ser433Phe	1518	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000948917.1	protein_coding	14/23	-	ENST00000948917.1:c.1298C>T	ENSP00000618976.1:p.Ser433Phe	1561	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000948918.1	protein_coding	13/22	-	ENST00000948918.1:c.1298C>T	ENSP00000618977.1:p.Ser433Phe	1440	1298	433	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	P3	-	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951	-	-	-	-
.	17:5007047-5007047	T	missense_variant	MODERATE	KIF1C	ENSG00000129250	Transcript	ENST00000948919.1	protein_coding	13/22	-	ENST00000948919.1:c.1304C>T	ENSP00000618978.1:p.Ser435Phe	1595	1304	435	S/F	tCc/tTc	-	C	C/T	-	1	-	HGNC	HGNC:6317	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000225696.9	protein_coding	-	3/16	ENST00000225696.9:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant,NMD_transcript_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000570937.2	nonsense_mediated_decay	-	3/9	ENST00000570937.2:c.*264+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant,NMD_transcript_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000572019.2	nonsense_mediated_decay	-	4/17	ENST00000572019.2:c.*264+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	downstream_gene_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000572290.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	A	A/G	198	-1	-	HGNC	HGNC:8067	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000572809.1	protein_coding	-	3/4	ENST00000572809.1:c.200+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	cds_end_NF	HGNC	HGNC:8067	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000573584.6	protein_coding	-	3/16	ENST00000573584.6:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	YES	MANE_Select	NM_002532.6	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant,non_coding_transcript_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000574867.5	retained_intron	-	3/10	ENST00000574867.5:n.605+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700529.1	protein_coding	-	3/16	ENST00000700529.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700530.1	protein_coding	-	3/17	ENST00000700530.1:c.200+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700531.1	protein_coding	-	3/16	ENST00000700531.1:c.504+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	cds_start_NF	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700532.1	protein_coding	-	3/15	ENST00000700532.1:c.565+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	cds_start_NF	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant,NMD_transcript_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700533.1	nonsense_mediated_decay	-	3/15	ENST00000700533.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant,NMD_transcript_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700534.1	nonsense_mediated_decay	-	3/15	ENST00000700534.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700535.1	protein_coding	-	3/15	ENST00000700535.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant,NMD_transcript_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700536.1	nonsense_mediated_decay	-	3/16	ENST00000700536.1:c.*28+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant,NMD_transcript_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700537.1	nonsense_mediated_decay	-	3/15	ENST00000700537.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700538.1	protein_coding	-	3/15	ENST00000700538.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant,NMD_transcript_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700539.1	nonsense_mediated_decay	-	3/14	ENST00000700539.1:c.515+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	cds_start_NF	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant,NMD_transcript_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700540.1	nonsense_mediated_decay	-	3/16	ENST00000700540.1:c.584+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	cds_start_NF	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant,NMD_transcript_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700541.1	nonsense_mediated_decay	-	3/14	ENST00000700541.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700542.1	protein_coding	-	3/15	ENST00000700542.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700543.1	protein_coding	-	3/15	ENST00000700543.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700544.1	protein_coding	-	3/16	ENST00000700544.1:c.200+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant,NMD_transcript_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700545.1	nonsense_mediated_decay	-	3/17	ENST00000700545.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700546.1	protein_coding	-	3/14	ENST00000700546.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant,non_coding_transcript_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000700547.1	protein_coding_CDS_not_defined	-	3/9	ENST00000700547.1:n.880+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000876646.1	protein_coding	-	3/15	ENST00000876646.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000876647.1	protein_coding	-	3/16	ENST00000876647.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000876648.1	protein_coding	-	3/16	ENST00000876648.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000876649.1	protein_coding	-	3/15	ENST00000876649.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000876650.1	protein_coding	-	3/15	ENST00000876650.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000931554.1	protein_coding	-	3/16	ENST00000931554.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000931555.1	protein_coding	-	3/14	ENST00000931555.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000948887.1	protein_coding	-	3/15	ENST00000948887.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000948888.1	protein_coding	-	3/16	ENST00000948888.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000948889.1	protein_coding	-	2/15	ENST00000948889.1:c.467+2611T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:5413902-5413902	G	intron_variant	MODIFIER	NUP88	ENSG00000108559	Transcript	ENST00000948890.1	protein_coding	-	3/16	ENST00000948890.1:c.593+107T>C	-	-	-	-	-	-	-	A	A/G	-	-1	-	HGNC	HGNC:8067	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:6589829-6589829	T	synonymous_variant	LOW	KIAA0753	ENSG00000198920	Transcript	ENST00000361413.8	protein_coding	18/19	-	ENST00000361413.8:c.2736C>A	ENSP00000355250.3:p.Ile912%3D	2879	2736	912	I	atC/atA	COSV63818854	G	G/T	-	-1	-	HGNC	HGNC:29110	YES	MANE_Select	NM_014804.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:6589829-6589829	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	KIAA0753	ENSG00000198920	Transcript	ENST00000542826.6	nonsense_mediated_decay	11/12	-	ENST00000542826.6:c.*1174C>A	-	1311	-	-	-	-	COSV63818854	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:29110	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:6589829-6589829	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	KIAA0753	ENSG00000198920	Transcript	ENST00000570790.5	nonsense_mediated_decay	16/17	-	ENST00000570790.5:c.*1882C>A	-	2699	-	-	-	-	COSV63818854	G	G/T	-	-1	-	HGNC	HGNC:29110	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:6589829-6589829	T	synonymous_variant	LOW	KIAA0753	ENSG00000198920	Transcript	ENST00000572370.5	protein_coding	17/18	-	ENST00000572370.5:c.1839C>A	ENSP00000460050.1:p.Ile613%3D	2737	1839	613	I	atC/atA	COSV63818854	G	G/T	-	-1	-	HGNC	HGNC:29110	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:6589829-6589829	T	non_coding_transcript_exon_variant	MODIFIER	KIAA0753	ENSG00000198920	Transcript	ENST00000575027.1	protein_coding_CDS_not_defined	7/7	-	ENST00000575027.1:n.731C>A	-	731	-	-	-	-	COSV63818854	G	G/T	-	-1	-	HGNC	HGNC:29110	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:6589829-6589829	T	synonymous_variant	LOW	KIAA0753	ENSG00000198920	Transcript	ENST00000576281.5	protein_coding	3/4	-	ENST00000576281.5:c.324C>A	ENSP00000460156.1:p.Ile108%3D	324	324	108	I	atC/atA	COSV63818854	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:29110	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:6589829-6589829	T	3_prime_UTR_variant	MODIFIER	-	ENSG00000282936	Transcript	ENST00000634965.3	protein_coding	18/19	-	ENST00000634965.3:c.*3686C>A	-	7618	-	-	-	-	COSV63818854	G	G/T	-	-1	-	-	-	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:6703943-6703943	T	missense_variant	MODERATE	SLC13A5	ENSG00000141485	Transcript	ENST00000293800.10	protein_coding	4/12	-	ENST00000293800.10:c.431C>A	ENSP00000293800.6:p.Ala144Asp	467	431	144	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:23089	-	-	-	-	2	-	-	tolerated(0.43)	benign(0.009)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:6703943-6703943	T	missense_variant	MODERATE	SLC13A5	ENSG00000141485	Transcript	ENST00000381074.8	protein_coding	3/11	-	ENST00000381074.8:c.353C>A	ENSP00000370464.4:p.Ala118Asp	386	353	118	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:23089	-	-	-	-	2	-	-	tolerated_low_confidence(0.37)	benign(0.007)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:6703943-6703943	T	missense_variant	MODERATE	SLC13A5	ENSG00000141485	Transcript	ENST00000433363.7	protein_coding	4/12	-	ENST00000433363.7:c.482C>A	ENSP00000406220.2:p.Ala161Asp	518	482	161	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:23089	YES	MANE_Select	NM_177550.5	-	1	P1	-	tolerated_low_confidence(0.41)	benign(0.009)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.1144	-	-	-	-
.	17:6703943-6703943	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	SLC13A5	ENSG00000141485	Transcript	ENST00000572094.1	nonsense_mediated_decay	4/7	-	ENST00000572094.1:c.*232C>A	-	504	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23089	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:6703943-6703943	T	missense_variant	MODERATE	SLC13A5	ENSG00000141485	Transcript	ENST00000572352.5	protein_coding	4/5	-	ENST00000572352.5:c.371C>A	ENSP00000461622.1:p.Ala124Asp	407	371	124	A/D	gCc/gAc	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:23089	-	-	-	-	4	-	-	tolerated(0.38)	benign(0.078)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:6703943-6703943	T	missense_variant	MODERATE	SLC13A5	ENSG00000141485	Transcript	ENST00000573648.5	protein_coding	4/11	-	ENST00000573648.5:c.482C>A	ENSP00000459372.1:p.Ala161Asp	526	482	161	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:23089	-	-	-	-	1	-	-	tolerated(0.32)	benign(0.009)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.1144	-	-	-	-
.	17:6703943-6703943	T	non_coding_transcript_exon_variant	MODIFIER	SLC13A5	ENSG00000141485	Transcript	ENST00000574824.5	retained_intron	1/4	-	ENST00000574824.5:n.1615C>A	-	1615	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23089	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:6703943-6703943	T	downstream_gene_variant	MODIFIER	SLC13A5	ENSG00000141485	Transcript	ENST00000575230.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	93	-1	-	HGNC	HGNC:23089	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:6703943-6703943	T	non_coding_transcript_exon_variant	MODIFIER	SLC13A5	ENSG00000141485	Transcript	ENST00000576323.1	protein_coding_CDS_not_defined	4/4	-	ENST00000576323.1:n.512C>A	-	512	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23089	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:6703943-6703943	T	missense_variant	MODERATE	SLC13A5	ENSG00000141485	Transcript	ENST00000898130.1	protein_coding	4/12	-	ENST00000898130.1:c.482C>A	ENSP00000568189.1:p.Ala161Asp	515	482	161	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:23089	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.1144	-	-	-	-
.	17:6703943-6703943	T	missense_variant	MODERATE	SLC13A5	ENSG00000141485	Transcript	ENST00000898131.1	protein_coding	4/11	-	ENST00000898131.1:c.482C>A	ENSP00000568190.1:p.Ala161Asp	515	482	161	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:23089	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.1144	-	-	-	-
.	17:6703943-6703943	T	missense_variant	MODERATE	SLC13A5	ENSG00000141485	Transcript	ENST00000898132.1	protein_coding	4/10	-	ENST00000898132.1:c.482C>A	ENSP00000568191.1:p.Ala161Asp	515	482	161	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:23089	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.1144	-	-	-	-
.	17:6703943-6703943	T	missense_variant	MODERATE	SLC13A5	ENSG00000141485	Transcript	ENST00000949501.1	protein_coding	4/11	-	ENST00000949501.1:c.482C>A	ENSP00000619560.1:p.Ala161Asp	515	482	161	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:23089	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.1144	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000254850.11	protein_coding	9/9	-	ENST00000254850.11:c.711C>A	ENSP00000254850.7:p.Val237%3D	990	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000355035.9	protein_coding	9/9	-	ENST00000355035.9:c.783C>A	ENSP00000347140.5:p.Val261%3D	980	783	261	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000446679.6	protein_coding	8/8	-	ENST00000446679.6:c.726C>A	ENSP00000405844.2:p.Val242%3D	726	726	242	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000691900.1	protein_coding	9/9	-	ENST00000691900.1:c.768C>A	ENSP00000510808.1:p.Val256%3D	1046	768	256	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	YES	MANE_Select	NM_001201352.2	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870979.1	protein_coding	10/10	-	ENST00000870979.1:c.711C>A	ENSP00000541038.1:p.Val237%3D	1697	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870980.1	protein_coding	9/9	-	ENST00000870980.1:c.594C>A	ENSP00000541039.1:p.Val198%3D	1504	594	198	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870981.1	protein_coding	10/10	-	ENST00000870981.1:c.711C>A	ENSP00000541040.1:p.Val237%3D	1709	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870982.1	protein_coding	9/9	-	ENST00000870982.1:c.594C>A	ENSP00000541041.1:p.Val198%3D	1567	594	198	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870983.1	protein_coding	9/9	-	ENST00000870983.1:c.711C>A	ENSP00000541042.1:p.Val237%3D	951	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870984.1	protein_coding	10/10	-	ENST00000870984.1:c.711C>A	ENSP00000541043.1:p.Val237%3D	1127	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870985.1	protein_coding	10/10	-	ENST00000870985.1:c.711C>A	ENSP00000541044.1:p.Val237%3D	1215	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870986.1	protein_coding	10/10	-	ENST00000870986.1:c.747C>A	ENSP00000541045.1:p.Val249%3D	1051	747	249	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870987.1	protein_coding	10/10	-	ENST00000870987.1:c.768C>A	ENSP00000541046.1:p.Val256%3D	1161	768	256	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870988.1	protein_coding	9/9	-	ENST00000870988.1:c.804C>A	ENSP00000541047.1:p.Val268%3D	1082	804	268	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870989.1	protein_coding	8/8	-	ENST00000870989.1:c.594C>A	ENSP00000541048.1:p.Val198%3D	890	594	198	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870990.1	protein_coding	8/8	-	ENST00000870990.1:c.651C>A	ENSP00000541049.1:p.Val217%3D	899	651	217	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870991.1	protein_coding	10/10	-	ENST00000870991.1:c.768C>A	ENSP00000541050.1:p.Val256%3D	1692	768	256	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870992.1	protein_coding	9/9	-	ENST00000870992.1:c.768C>A	ENSP00000541051.1:p.Val256%3D	1488	768	256	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870993.1	protein_coding	9/9	-	ENST00000870993.1:c.561C>A	ENSP00000541052.1:p.Val187%3D	1471	561	187	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870994.1	protein_coding	10/10	-	ENST00000870994.1:c.804C>A	ENSP00000541053.1:p.Val268%3D	1714	804	268	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870995.1	protein_coding	9/9	-	ENST00000870995.1:c.711C>A	ENSP00000541054.1:p.Val237%3D	1509	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870996.1	protein_coding	7/7	-	ENST00000870996.1:c.594C>A	ENSP00000541055.1:p.Val198%3D	2025	594	198	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870997.1	protein_coding	10/10	-	ENST00000870997.1:c.747C>A	ENSP00000541056.1:p.Val249%3D	1632	747	249	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870998.1	protein_coding	10/10	-	ENST00000870998.1:c.711C>A	ENSP00000541057.1:p.Val237%3D	1249	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000870999.1	protein_coding	9/9	-	ENST00000870999.1:c.711C>A	ENSP00000541058.1:p.Val237%3D	1057	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871000.1	protein_coding	8/8	-	ENST00000871000.1:c.594C>A	ENSP00000541059.1:p.Val198%3D	851	594	198	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871001.1	protein_coding	9/9	-	ENST00000871001.1:c.747C>A	ENSP00000541060.1:p.Val249%3D	873	747	249	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871002.1	protein_coding	10/10	-	ENST00000871002.1:c.711C>A	ENSP00000541061.1:p.Val237%3D	979	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871003.1	protein_coding	10/10	-	ENST00000871003.1:c.711C>A	ENSP00000541062.1:p.Val237%3D	1114	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871004.1	protein_coding	9/9	-	ENST00000871004.1:c.711C>A	ENSP00000541063.1:p.Val237%3D	907	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871005.1	protein_coding	9/9	-	ENST00000871005.1:c.594C>A	ENSP00000541064.1:p.Val198%3D	981	594	198	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871006.1	protein_coding	10/10	-	ENST00000871006.1:c.804C>A	ENSP00000541065.1:p.Val268%3D	1197	804	268	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871007.1	protein_coding	10/10	-	ENST00000871007.1:c.711C>A	ENSP00000541066.1:p.Val237%3D	1183	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871008.1	protein_coding	10/10	-	ENST00000871008.1:c.747C>A	ENSP00000541067.1:p.Val249%3D	1128	747	249	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871009.1	protein_coding	9/9	-	ENST00000871009.1:c.768C>A	ENSP00000541068.1:p.Val256%3D	958	768	256	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871010.1	protein_coding	8/8	-	ENST00000871010.1:c.594C>A	ENSP00000541069.1:p.Val198%3D	1110	594	198	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871011.1	protein_coding	10/10	-	ENST00000871011.1:c.711C>A	ENSP00000541070.1:p.Val237%3D	1134	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871012.1	protein_coding	8/8	-	ENST00000871012.1:c.594C>A	ENSP00000541071.1:p.Val198%3D	743	594	198	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871013.1	protein_coding	9/9	-	ENST00000871013.1:c.561C>A	ENSP00000541072.1:p.Val187%3D	907	561	187	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871014.1	protein_coding	10/10	-	ENST00000871014.1:c.768C>A	ENSP00000541073.1:p.Val256%3D	1138	768	256	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871015.1	protein_coding	9/9	-	ENST00000871015.1:c.711C>A	ENSP00000541074.1:p.Val237%3D	1213	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871016.1	protein_coding	9/9	-	ENST00000871016.1:c.747C>A	ENSP00000541075.1:p.Val249%3D	1069	747	249	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871017.1	protein_coding	9/9	-	ENST00000871017.1:c.768C>A	ENSP00000541076.1:p.Val256%3D	1134	768	256	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871018.1	protein_coding	8/8	-	ENST00000871018.1:c.624C>A	ENSP00000541077.1:p.Val208%3D	902	624	208	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871019.1	protein_coding	5/5	-	ENST00000871019.1:c.339C>A	ENSP00000541078.1:p.Val113%3D	705	339	113	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871020.1	protein_coding	9/9	-	ENST00000871020.1:c.711C>A	ENSP00000541079.1:p.Val237%3D	1066	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871021.1	protein_coding	5/5	-	ENST00000871021.1:c.339C>A	ENSP00000541080.1:p.Val113%3D	603	339	113	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871022.1	protein_coding	9/9	-	ENST00000871022.1:c.768C>A	ENSP00000541081.1:p.Val256%3D	1108	768	256	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871023.1	protein_coding	9/9	-	ENST00000871023.1:c.804C>A	ENSP00000541082.1:p.Val268%3D	1150	804	268	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871024.1	protein_coding	9/9	-	ENST00000871024.1:c.735C>A	ENSP00000541083.1:p.Val245%3D	1081	735	245	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871025.1	protein_coding	9/9	-	ENST00000871025.1:c.711C>A	ENSP00000541084.1:p.Val237%3D	948	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871026.1	protein_coding	9/9	-	ENST00000871026.1:c.678C>A	ENSP00000541085.1:p.Val226%3D	921	678	226	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871027.1	protein_coding	5/5	-	ENST00000871027.1:c.396C>A	ENSP00000541086.1:p.Val132%3D	644	396	132	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871028.1	protein_coding	9/9	-	ENST00000871028.1:c.735C>A	ENSP00000541087.1:p.Val245%3D	947	735	245	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871029.1	protein_coding	9/9	-	ENST00000871029.1:c.768C>A	ENSP00000541088.1:p.Val256%3D	915	768	256	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871030.1	protein_coding	9/9	-	ENST00000871030.1:c.735C>A	ENSP00000541089.1:p.Val245%3D	879	735	245	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871031.1	protein_coding	9/9	-	ENST00000871031.1:c.708C>A	ENSP00000541090.1:p.Val236%3D	853	708	236	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871032.1	protein_coding	9/9	-	ENST00000871032.1:c.747C>A	ENSP00000541091.1:p.Val249%3D	968	747	249	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871033.1	protein_coding	6/6	-	ENST00000871033.1:c.426C>A	ENSP00000541092.1:p.Val142%3D	558	426	142	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871034.1	protein_coding	9/9	-	ENST00000871034.1:c.747C>A	ENSP00000541093.1:p.Val249%3D	873	747	249	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871035.1	protein_coding	8/8	-	ENST00000871035.1:c.651C>A	ENSP00000541094.1:p.Val217%3D	872	651	217	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871036.1	protein_coding	9/9	-	ENST00000871036.1:c.678C>A	ENSP00000541095.1:p.Val226%3D	805	678	226	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871037.1	protein_coding	9/9	-	ENST00000871037.1:c.804C>A	ENSP00000541096.1:p.Val268%3D	1004	804	268	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871038.1	protein_coding	9/9	-	ENST00000871038.1:c.693C>A	ENSP00000541097.1:p.Val231%3D	820	693	231	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871039.1	protein_coding	9/9	-	ENST00000871039.1:c.729C>A	ENSP00000541098.1:p.Val243%3D	852	729	243	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871040.1	protein_coding	9/9	-	ENST00000871040.1:c.699C>A	ENSP00000541099.1:p.Val233%3D	816	699	233	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871041.1	protein_coding	7/7	-	ENST00000871041.1:c.507C>A	ENSP00000541100.1:p.Val169%3D	618	507	169	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871042.1	protein_coding	9/9	-	ENST00000871042.1:c.747C>A	ENSP00000541101.1:p.Val249%3D	935	747	249	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871043.1	protein_coding	8/8	-	ENST00000871043.1:c.681C>A	ENSP00000541102.1:p.Val227%3D	874	681	227	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871044.1	protein_coding	9/9	-	ENST00000871044.1:c.765C>A	ENSP00000541103.1:p.Val255%3D	869	765	255	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871045.1	protein_coding	5/5	-	ENST00000871045.1:c.396C>A	ENSP00000541104.1:p.Val132%3D	585	396	132	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871046.1	protein_coding	7/7	-	ENST00000871046.1:c.498C>A	ENSP00000541105.1:p.Val166%3D	588	498	166	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871047.1	protein_coding	8/8	-	ENST00000871047.1:c.711C>A	ENSP00000541106.1:p.Val237%3D	1089	711	237	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871048.1	protein_coding	8/8	-	ENST00000871048.1:c.768C>A	ENSP00000541107.1:p.Val256%3D	1053	768	256	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871049.1	protein_coding	8/8	-	ENST00000871049.1:c.804C>A	ENSP00000541108.1:p.Val268%3D	1062	804	268	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871050.1	protein_coding	8/8	-	ENST00000871050.1:c.747C>A	ENSP00000541109.1:p.Val249%3D	961	747	249	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871051.1	protein_coding	8/8	-	ENST00000871051.1:c.765C>A	ENSP00000541110.1:p.Val255%3D	894	765	255	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871052.1	protein_coding	8/8	-	ENST00000871052.1:c.738C>A	ENSP00000541111.1:p.Val246%3D	796	738	246	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871053.1	protein_coding	8/8	-	ENST00000871053.1:c.750C>A	ENSP00000541112.1:p.Val250%3D	771	750	250	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000871054.1	protein_coding	7/7	-	ENST00000871054.1:c.717C>A	ENSP00000541113.1:p.Val239%3D	732	717	239	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7101728-7101728	T	synonymous_variant	LOW	ASGR2	ENSG00000161944	Transcript	ENST00000955571.1	protein_coding	8/8	-	ENST00000955571.1:c.582C>A	ENSP00000625630.1:p.Val194%3D	720	582	194	V	gtC/gtA	-	G	G/T	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000254850.11	protein_coding	-	5/8	ENST00000254850.11:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000355035.9	protein_coding	-	5/8	ENST00000355035.9:c.424+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000446679.6	protein_coding	-	4/7	ENST00000446679.6:c.367+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	non_coding_transcript_exon_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000450034.7	retained_intron	6/6	-	ENST00000450034.7:n.912G>C	-	912	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	downstream_gene_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000574868.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/G	139	-1	cds_end_NF	HGNC	HGNC:743	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	non_coding_transcript_exon_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000576487.5	retained_intron	5/5	-	ENST00000576487.5:n.857G>C	-	857	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000691900.1	protein_coding	-	5/8	ENST00000691900.1:c.409+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	YES	MANE_Select	NM_001201352.2	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870979.1	protein_coding	-	6/9	ENST00000870979.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870980.1	protein_coding	-	5/8	ENST00000870980.1:c.235+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870981.1	protein_coding	-	6/9	ENST00000870981.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870982.1	protein_coding	-	5/8	ENST00000870982.1:c.235+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870983.1	protein_coding	-	5/8	ENST00000870983.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870984.1	protein_coding	-	6/9	ENST00000870984.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870985.1	protein_coding	-	6/9	ENST00000870985.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870986.1	protein_coding	-	6/9	ENST00000870986.1:c.388+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870987.1	protein_coding	-	6/9	ENST00000870987.1:c.409+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870988.1	protein_coding	-	5/8	ENST00000870988.1:c.445+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870989.1	protein_coding	-	4/7	ENST00000870989.1:c.235+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870990.1	protein_coding	-	4/7	ENST00000870990.1:c.292+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870991.1	protein_coding	-	6/9	ENST00000870991.1:c.409+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870992.1	protein_coding	-	5/8	ENST00000870992.1:c.409+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870993.1	protein_coding	-	5/8	ENST00000870993.1:c.202+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870994.1	protein_coding	-	6/9	ENST00000870994.1:c.445+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870995.1	protein_coding	-	5/8	ENST00000870995.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870996.1	protein_coding	-	3/6	ENST00000870996.1:c.235+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870997.1	protein_coding	-	6/9	ENST00000870997.1:c.388+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870998.1	protein_coding	-	6/9	ENST00000870998.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000870999.1	protein_coding	-	5/8	ENST00000870999.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871000.1	protein_coding	-	4/7	ENST00000871000.1:c.235+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871001.1	protein_coding	-	5/8	ENST00000871001.1:c.388+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871002.1	protein_coding	-	6/9	ENST00000871002.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871003.1	protein_coding	-	6/9	ENST00000871003.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871004.1	protein_coding	-	5/8	ENST00000871004.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871005.1	protein_coding	-	5/8	ENST00000871005.1:c.235+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871006.1	protein_coding	-	6/9	ENST00000871006.1:c.445+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871007.1	protein_coding	-	6/9	ENST00000871007.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871008.1	protein_coding	-	6/9	ENST00000871008.1:c.388+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871009.1	protein_coding	-	5/8	ENST00000871009.1:c.409+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871010.1	protein_coding	-	4/7	ENST00000871010.1:c.235+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871011.1	protein_coding	-	6/9	ENST00000871011.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871012.1	protein_coding	-	4/7	ENST00000871012.1:c.235+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871013.1	protein_coding	-	5/8	ENST00000871013.1:c.202+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871014.1	protein_coding	-	6/9	ENST00000871014.1:c.409+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871015.1	protein_coding	-	5/8	ENST00000871015.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871016.1	protein_coding	-	5/8	ENST00000871016.1:c.388+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871017.1	protein_coding	-	5/8	ENST00000871017.1:c.409+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871018.1	protein_coding	-	5/7	ENST00000871018.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871019.1	protein_coding	-	2/4	ENST00000871019.1:c.68-549G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871020.1	protein_coding	-	5/8	ENST00000871020.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871021.1	protein_coding	-	2/4	ENST00000871021.1:c.68-549G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871022.1	protein_coding	-	5/8	ENST00000871022.1:c.409+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871023.1	protein_coding	-	5/8	ENST00000871023.1:c.445+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871024.1	protein_coding	-	5/8	ENST00000871024.1:c.376+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871025.1	protein_coding	-	5/8	ENST00000871025.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871026.1	protein_coding	-	5/8	ENST00000871026.1:c.319+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871027.1	protein_coding	-	2/4	ENST00000871027.1:c.125-549G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871028.1	protein_coding	-	5/8	ENST00000871028.1:c.376+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871029.1	protein_coding	-	5/8	ENST00000871029.1:c.409+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871030.1	protein_coding	-	5/8	ENST00000871030.1:c.405+140G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871031.1	protein_coding	-	5/8	ENST00000871031.1:c.349+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871032.1	protein_coding	-	5/8	ENST00000871032.1:c.388+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871033.1	protein_coding	-	2/5	ENST00000871033.1:c.68-383G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871034.1	protein_coding	-	5/8	ENST00000871034.1:c.388+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871035.1	protein_coding	-	4/7	ENST00000871035.1:c.292+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871036.1	protein_coding	-	5/8	ENST00000871036.1:c.348+140G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871037.1	protein_coding	-	5/8	ENST00000871037.1:c.445+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871038.1	protein_coding	-	5/8	ENST00000871038.1:c.334+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871039.1	protein_coding	-	5/8	ENST00000871039.1:c.370+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871040.1	protein_coding	-	5/8	ENST00000871040.1:c.369+119G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871041.1	protein_coding	-	4/6	ENST00000871041.1:c.235+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871042.1	protein_coding	-	5/8	ENST00000871042.1:c.388+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871043.1	protein_coding	-	5/7	ENST00000871043.1:c.409+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871044.1	protein_coding	-	5/8	ENST00000871044.1:c.406+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871045.1	protein_coding	-	2/4	ENST00000871045.1:c.125-549G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871046.1	protein_coding	-	3/6	ENST00000871046.1:c.139+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871047.1	protein_coding	-	4/7	ENST00000871047.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871048.1	protein_coding	-	4/7	ENST00000871048.1:c.409+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871049.1	protein_coding	-	4/7	ENST00000871049.1:c.445+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871050.1	protein_coding	-	4/7	ENST00000871050.1:c.388+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871051.1	protein_coding	-	4/7	ENST00000871051.1:c.406+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871052.1	protein_coding	-	4/7	ENST00000871052.1:c.352+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871053.1	protein_coding	-	4/7	ENST00000871053.1:c.391+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000871054.1	protein_coding	-	4/6	ENST00000871054.1:c.445+136G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7107700-7107700	G	intron_variant	MODIFIER	ASGR2	ENSG00000161944	Transcript	ENST00000955571.1	protein_coding	-	4/7	ENST00000955571.1:c.252+119G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:743	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	downstream_gene_variant	MODIFIER	FGF11	ENSG00000161958	Transcript	ENST00000293829.9	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2638	1	-	HGNC	HGNC:3667	YES	MANE_Select	NM_004112.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	missense_variant	MODERATE	CHRNB1	ENSG00000170175	Transcript	ENST00000306071.7	protein_coding	6/11	-	ENST00000306071.7:c.535G>T	ENSP00000304290.2:p.Val179Phe	602	535	179	V/F	Gtc/Ttc	-	G	G/T	-	1	-	HGNC	HGNC:1961	YES	MANE_Select	NM_000747.3	-	1	P1	-	deleterious(0)	possibly_damaging(0.9)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.5644	-	-	-	-
.	17:7447575-7447575	T	missense_variant	MODERATE	CHRNB1	ENSG00000170175	Transcript	ENST00000536404.6	protein_coding	5/10	-	ENST00000536404.6:c.319G>T	ENSP00000439209.2:p.Val107Phe	449	319	107	V/F	Gtc/Ttc	-	G	G/T	-	1	-	HGNC	HGNC:1961	-	-	-	-	2	-	-	deleterious(0)	possibly_damaging(0.9)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	missense_variant	MODERATE	CHRNB1	ENSG00000170175	Transcript	ENST00000570557.5	protein_coding	5/8	-	ENST00000570557.5:c.409G>T	ENSP00000460648.1:p.Val137Phe	408	409	137	V/F	Gtc/Ttc	-	G	G/T	-	1	cds_start_NF,cds_end_NF	HGNC	HGNC:1961	-	-	-	-	5	-	-	deleterious(0.01)	possibly_damaging(0.486)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	downstream_gene_variant	MODIFIER	CHRNB1	ENSG00000170175	Transcript	ENST00000572857.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	486	1	cds_end_NF	HGNC	HGNC:1961	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	downstream_gene_variant	MODIFIER	FGF11	ENSG00000161958	Transcript	ENST00000572907.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4147	1	-	HGNC	HGNC:3667	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	non_coding_transcript_exon_variant	MODIFIER	CHRNB1	ENSG00000170175	Transcript	ENST00000573209.1	retained_intron	3/6	-	ENST00000573209.1:n.1479G>T	-	1479	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1961	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	downstream_gene_variant	MODIFIER	CHRNB1	ENSG00000170175	Transcript	ENST00000574054.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1801	1	-	HGNC	HGNC:1961	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	downstream_gene_variant	MODIFIER	FGF11	ENSG00000161958	Transcript	ENST00000575082.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2673	1	-	HGNC	HGNC:3667	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	downstream_gene_variant	MODIFIER	FGF11	ENSG00000161958	Transcript	ENST00000575235.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4244	1	-	HGNC	HGNC:3667	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	downstream_gene_variant	MODIFIER	FGF11	ENSG00000161958	Transcript	ENST00000575398.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4019	1	-	HGNC	HGNC:3667	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	missense_variant	MODERATE	CHRNB1	ENSG00000170175	Transcript	ENST00000576360.1	protein_coding	5/10	-	ENST00000576360.1:c.319G>T	ENSP00000459092.1:p.Val107Phe	421	319	107	V/F	Gtc/Ttc	-	G	G/T	-	1	-	HGNC	HGNC:1961	-	-	-	-	3	-	-	deleterious(0)	possibly_damaging(0.781)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	upstream_gene_variant	MODIFIER	-	ENSG00000263301	Transcript	ENST00000576615.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4248	-1	-	-	-	YES	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	downstream_gene_variant	MODIFIER	-	ENSG00000308645	Transcript	ENST00000835515.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	834	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7447575-7447575	T	downstream_gene_variant	MODIFIER	FGF11	ENSG00000161958	Transcript	ENST00000874610.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2647	1	-	HGNC	HGNC:3667	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000293825.11	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/A	2874	1	-	HGNC	HGNC:11927	YES	MANE_Select	NM_003809.3	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	upstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000321337.12	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/A	1164	1	-	HGNC	HGNC:17862	YES	MANE_Select	NM_015670.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000322272.11	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/A	2865	1	-	HGNC	HGNC:11927	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	synonymous_variant	LOW	TNFSF13	ENSG00000161955	Transcript	ENST00000338784.9	protein_coding	6/6	-	ENST00000338784.9:c.675G>A	ENSP00000343505.4:p.Leu225%3D	965	675	225	L	ctG/ctA	-	G	G/A	-	1	-	HGNC	HGNC:11928	YES	MANE_Select	NM_003808.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	synonymous_variant	LOW	TNFSF13	ENSG00000161955	Transcript	ENST00000349228.8	protein_coding	5/5	-	ENST00000349228.8:c.627G>A	ENSP00000314455.6:p.Leu209%3D	1191	627	209	L	ctG/ctA	-	G	G/A	-	1	-	HGNC	HGNC:11928	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	synonymous_variant	LOW	TNFSF13	ENSG00000161955	Transcript	ENST00000380535.8	protein_coding	5/5	-	ENST00000380535.8:c.594G>A	ENSP00000369908.5:p.Leu198%3D	1342	594	198	L	ctG/ctA	-	G	G/A	-	1	-	HGNC	HGNC:11928	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	synonymous_variant	LOW	TNFSF13	ENSG00000161955	Transcript	ENST00000396542.5	protein_coding	6/6	-	ENST00000396542.5:c.540G>A	ENSP00000379792.1:p.Leu180%3D	646	540	180	L	ctG/ctA	-	G	G/A	-	1	-	HGNC	HGNC:11928	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	synonymous_variant	LOW	TNFSF13	ENSG00000161955	Transcript	ENST00000396545.4	protein_coding	6/7	-	ENST00000396545.4:c.675G>A	ENSP00000379794.4:p.Leu225%3D	928	675	225	L	ctG/ctA	-	G	G/A	-	1	-	HGNC	HGNC:11928	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF13	ENSG00000161955	Transcript	ENST00000436057.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/A	383	1	cds_end_NF	HGNC	HGNC:11928	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF13	ENSG00000161955	Transcript	ENST00000438470.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/A	361	1	cds_end_NF	HGNC	HGNC:11928	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000462619.6	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/A	2865	1	-	HGNC	HGNC:11927	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000462811.2	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/A	2865	1	-	HGNC	HGNC:11927	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	synonymous_variant	LOW	TNFSF13	ENSG00000161955	Transcript	ENST00000483039.5	protein_coding	5/5	-	ENST00000483039.5:c.267G>A	ENSP00000464998.1:p.Leu89%3D	422	267	89	L	ctG/ctA	-	G	G/A	-	1	-	HGNC	HGNC:11928	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	upstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000580231.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/A	4088	1	cds_start_NF	HGNC	HGNC:17862	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	upstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000580997.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/A	4026	1	-	HGNC	HGNC:17862	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	upstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000583277.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/A	3607	1	-	HGNC	HGNC:17862	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	upstream_gene_variant	MODIFIER	-	ENSG00000276384	Transcript	ENST00000610459.2	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/A	875	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	upstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000619785.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/A	4709	1	cds_start_NF	HGNC	HGNC:17862	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	synonymous_variant	LOW	TNFSF13	ENSG00000161955	Transcript	ENST00000625791.2	protein_coding	5/5	-	ENST00000625791.2:c.591G>A	ENSP00000486052.1:p.Leu197%3D	872	591	197	L	ctG/ctA	-	G	G/A	-	1	-	HGNC	HGNC:11928	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700014.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/A	3500	1	-	HGNC	HGNC:11927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700015.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/A	2874	1	-	HGNC	HGNC:11927	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700047.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/A	2865	1	-	HGNC	HGNC:11927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700048.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/A	2865	1	-	HGNC	HGNC:11927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700049.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/A	2865	1	-	HGNC	HGNC:11927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700050.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/A	2871	1	-	HGNC	HGNC:11927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700052.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/A	2874	1	-	HGNC	HGNC:11927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700053.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/A	2880	1	-	HGNC	HGNC:11927	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700054.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/A	2865	1	-	HGNC	HGNC:11927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700056.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/A	3069	1	-	HGNC	HGNC:11927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700057.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/A	3544	1	-	HGNC	HGNC:11927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700058.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/A	2865	1	-	HGNC	HGNC:11927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000700059.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/A	3200	1	-	HGNC	HGNC:11927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	upstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000937871.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/A	1183	1	-	HGNC	HGNC:17862	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	upstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000937872.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/A	1197	1	-	HGNC	HGNC:17862	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7560755-7560755	A	downstream_gene_variant	MODIFIER	TNFSF12	ENSG00000239697	Transcript	ENST00000946751.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/A	2866	1	-	HGNC	HGNC:11927	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000293831.13	protein_coding	-	1/10	ENST00000293831.13:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	YES	MANE_Select	NM_001416.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	downstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000321337.12	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1078	1	-	HGNC	HGNC:17862	YES	MANE_Select	NM_015670.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	SNORA67	ENSG00000277985	Transcript	ENST00000384423.1	snoRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4908	1	-	HGNC	HGNC:10224	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	SNORA48	ENSG00000209582	Transcript	ENST00000386847.1	snoRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1666	1	-	HGNC	HGNC:32641	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000396527.7	retained_intron	-	1/5	ENST00000396527.7:n.39+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	SNORD10	ENSG00000238917	Transcript	ENST00000459579.1	snoRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3764	1	-	HGNC	HGNC:32706	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000577269.5	protein_coding	-	1/10	ENST00000577269.5:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000577731.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2141	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000577738.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	386	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000577929.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	797	1	cds_end_NF	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000578324.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1212	1	-	HGNC	HGNC:3282	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,NMD_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000578476.5	nonsense_mediated_decay	-	1/5	ENST00000578476.5:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000578495.5	protein_coding	-	1/7	ENST00000578495.5:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:3282	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000578569.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4101	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000578754.5	protein_coding	-	1/4	ENST00000578754.5:c.-158+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:3282	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000579085.5	retained_intron	-	1/1	ENST00000579085.5:n.37+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,NMD_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000579139.1	nonsense_mediated_decay	-	1/4	ENST00000579139.1:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	downstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000580231.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1377	1	cds_start_NF	HGNC	HGNC:17862	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,NMD_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000580461.5	nonsense_mediated_decay	-	1/4	ENST00000580461.5:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000580886.5	retained_intron	-	1/1	ENST00000580886.5:n.39+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	downstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000581010.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1157	1	-	HGNC	HGNC:17862	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	downstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000581093.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1320	1	cds_start_NF	HGNC	HGNC:17862	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000581384.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	675	1	cds_end_NF	HGNC	HGNC:3282	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,NMD_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000581544.5	nonsense_mediated_decay	-	1/7	ENST00000581544.5:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000581770.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	269	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000581808.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	4640	1	-	HGNC	HGNC:3282	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000581841.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4519	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000582050.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	4588	1	cds_start_NF	HGNC	HGNC:3282	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000582169.5	protein_coding	-	1/4	ENST00000582169.5:c.-110+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:3282	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000582213.5	retained_intron	-	1/2	ENST00000582213.5:n.37+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000582746.5	protein_coding	-	1/9	ENST00000582746.5:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	downstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000582789.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1361	1	cds_start_NF	HGNC	HGNC:17862	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000582848.5	retained_intron	-	1/4	ENST00000582848.5:n.37+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000583217.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4160	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000583389.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3485	1	cds_start_NF	HGNC	HGNC:3282	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000583802.5	protein_coding	-	1/4	ENST00000583802.5:c.-37+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:3282	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000583899.5	retained_intron	-	1/2	ENST00000583899.5:n.37+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000584054.5	retained_intron	-	1/2	ENST00000584054.5:n.41+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000584712.5	retained_intron	-	1/3	ENST00000584712.5:n.39+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000584784.5	protein_coding	-	1/7	ENST00000584784.5:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:3282	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000584798.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1699	1	-	HGNC	HGNC:3282	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	upstream_gene_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000584860.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	188	1	-	HGNC	HGNC:3282	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000584901.5	retained_intron	-	1/5	ENST00000584901.5:n.37+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000585024.5	protein_coding	-	1/5	ENST00000585024.5:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:3282	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	downstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000610454.4	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1167	1	cds_start_NF	HGNC	HGNC:17862	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	downstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000619785.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	1586	1	cds_start_NF	HGNC	HGNC:17862	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000879166.1	protein_coding	-	1/10	ENST00000879166.1:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000879167.1	protein_coding	-	1/10	ENST00000879167.1:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000879168.1	protein_coding	-	1/10	ENST00000879168.1:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000879169.1	protein_coding	-	1/10	ENST00000879169.1:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000934298.1	protein_coding	-	1/10	ENST00000934298.1:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000934299.1	protein_coding	-	1/10	ENST00000934299.1:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000934300.1	protein_coding	-	1/10	ENST00000934300.1:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000934301.1	protein_coding	-	1/10	ENST00000934301.1:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000934302.1	protein_coding	-	1/8	ENST00000934302.1:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000934303.1	protein_coding	-	1/9	ENST00000934303.1:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	intron_variant	MODIFIER	EIF4A1	ENSG00000161960	Transcript	ENST00000934304.1	protein_coding	-	1/10	ENST00000934304.1:c.23+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3282	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	downstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000937871.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1078	1	-	HGNC	HGNC:17862	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	downstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000937872.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1078	1	-	HGNC	HGNC:17862	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	regulatory_region_variant	MODIFIER	-	-	RegulatoryFeature	ENSR17_DD5X	enhancer	-	-	-	-	-	-	-	-	-	-	G	G/T	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	missense_variant	MODERATE	SOX15	ENSG00000129194	Transcript	ENST00000250055.3	protein_coding	2/2	-	ENST00000250055.3:c.580C>G	ENSP00000355354.2:p.Gln194Glu	998	580	194	Q/E	Cag/Gag	COSV51468093,COSV51468733	G	G/C	-	-1	-	HGNC	HGNC:11196	YES	MANE_Select	NM_006942.2	-	1	P1	-	tolerated_low_confidence(0.12)	benign(0.036)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	likely_benign	0.0814	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	FXR2	ENSG00000129245	Transcript	ENST00000250113.12	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	2730	-1	-	HGNC	HGNC:4024	YES	MANE_Select	NM_004860.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000250124.11	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	288	1	-	HGNC	HGNC:7207	YES	MANE_Select	NM_004870.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000359822.10	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	804	1	-	HGNC	HGNC:7207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000396501.8	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	545	1	-	HGNC	HGNC:7207	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000415124.3	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4401	-1	-	HGNC	HGNC:40379	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000417897.3	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4398	-1	-	HGNC	HGNC:40379	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	intron_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000423172.6	protein_coding	-	5/5	ENST00000423172.6:c.532+1229G>C	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	-	1	-	HGNC	HGNC:7207	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	missense_variant	MODERATE	SOX15	ENSG00000129194	Transcript	ENST00000538513.6	protein_coding	3/3	-	ENST00000538513.6:c.580C>G	ENSP00000439311.2:p.Gln194Glu	728	580	194	Q/E	Cag/Gag	COSV51468093,COSV51468733	G	G/C	-	-1	-	HGNC	HGNC:11196	-	-	-	-	1	P1	-	tolerated_low_confidence(0.12)	benign(0.036)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	likely_benign	0.0814	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000570458.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	958	1	cds_start_NF	HGNC	HGNC:7207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	SOX15	ENSG00000129194	Transcript	ENST00000570788.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	499	-1	-	HGNC	HGNC:11196	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000571391.5	retained_intron	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	2062	1	-	HGNC	HGNC:7207	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000571822.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	710	1	-	HGNC	HGNC:7207	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000571877.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	683	1	-	HGNC	HGNC:7207	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000572046.3	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4758	-1	-	HGNC	HGNC:40379	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000572719.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	815	1	-	HGNC	HGNC:7207	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000572836.5	retained_intron	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	324	1	-	HGNC	HGNC:7207	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000572936.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	819	1	-	HGNC	HGNC:7207	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	FXR2	ENSG00000129245	Transcript	ENST00000573057.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	2942	-1	-	HGNC	HGNC:4024	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000573187.4	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4809	-1	-	HGNC	HGNC:40379	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000574558.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	562	1	cds_start_NF	HGNC	HGNC:7207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000575256.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	2320	1	-	HGNC	HGNC:7207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000576066.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	1539	1	-	HGNC	HGNC:7207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000576272.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	857	1	cds_start_NF	HGNC	HGNC:7207	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000577088.5	retained_intron	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	323	1	-	HGNC	HGNC:7207	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000578267.5	retained_intron	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	1539	1	-	HGNC	HGNC:7207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000579445.5	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	1257	1	cds_end_NF	HGNC	HGNC:7207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000580708.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	2012	1	-	HGNC	HGNC:7207	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000580834.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	1026	1	-	HGNC	HGNC:7207	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000581380.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	1242	1	cds_start_NF,cds_end_NF	HGNC	HGNC:7207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000581886.5	retained_intron	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	905	1	-	HGNC	HGNC:7207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000582151.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4244	1	-	HGNC	HGNC:7207	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	intron_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000584378.5	protein_coding	-	4/4	ENST00000584378.5:c.413+1229G>C	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	-	1	cds_end_NF	HGNC	HGNC:7207	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000584479.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	1457	1	-	HGNC	HGNC:7207	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000585188.5	retained_intron	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	1299	1	-	HGNC	HGNC:7207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000585217.5	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	313	1	cds_start_NF	HGNC	HGNC:7207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000655859.2	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4402	-1	-	HGNC	HGNC:40379	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000685745.3	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4756	-1	-	HGNC	HGNC:40379	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000687005.2	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4402	-1	-	HGNC	HGNC:40379	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000689184.2	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4754	-1	-	HGNC	HGNC:40379	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000689751.2	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4758	-1	-	HGNC	HGNC:40379	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000690435.2	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4723	-1	-	HGNC	HGNC:40379	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	FXR2	ENSG00000129245	Transcript	ENST00000704984.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	2730	-1	-	HGNC	HGNC:4024	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000842060.1	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4423	-1	-	HGNC	HGNC:40379	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000842061.1	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4951	-1	-	HGNC	HGNC:40379	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	upstream_gene_variant	MODIFIER	MPDU1-AS1	ENSG00000233223	Transcript	ENST00000842062.1	lncRNA	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	4951	-1	-	HGNC	HGNC:40379	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000853387.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	153	1	-	HGNC	HGNC:7207	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000853388.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	267	1	-	HGNC	HGNC:7207	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000853389.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	296	1	-	HGNC	HGNC:7207	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000853390.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	320	1	-	HGNC	HGNC:7207	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000853391.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	320	1	-	HGNC	HGNC:7207	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000915185.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	166	1	-	HGNC	HGNC:7207	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000915186.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	308	1	-	HGNC	HGNC:7207	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000915187.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	288	1	-	HGNC	HGNC:7207	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000915188.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	308	1	-	HGNC	HGNC:7207	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7588500-7588500	C	downstream_gene_variant	MODIFIER	MPDU1	ENSG00000129255	Transcript	ENST00000915189.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51468093,COSV51468733	G	G/C	308	1	-	HGNC	HGNC:7207	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000269305.9	protein_coding	5/11	-	ENST00000269305.9:c.524G>A	ENSP00000269305.4:p.Arg175His	666	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	YES	MANE_Select	NM_000546.6	-	1	P4	-	tolerated(0.08)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000359597.8	protein_coding	4/9	-	ENST00000359597.8:c.524G>A	ENSP00000352610.4:p.Arg175His	524	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	tolerated(0.07)	possibly_damaging(0.704)	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000413465.6	protein_coding	4/7	-	ENST00000413465.6:c.524G>A	ENSP00000410739.2:p.Arg175His	524	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	tolerated(0.07)	possibly_damaging(0.691)	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000420246.6	protein_coding	5/12	-	ENST00000420246.6:c.524G>A	ENSP00000391127.2:p.Arg175His	657	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	tolerated(0.07)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000445888.6	protein_coding	5/11	-	ENST00000445888.6:c.524G>A	ENSP00000391478.2:p.Arg175His	660	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	P4	-	tolerated(0.08)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000455263.6	protein_coding	5/12	-	ENST00000455263.6:c.524G>A	ENSP00000398846.2:p.Arg175His	657	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	deleterious(0.05)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000503591.2	protein_coding	6/12	-	ENST00000503591.2:c.524G>A	ENSP00000426252.2:p.Arg175His	706	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	5	P4	-	tolerated(0.08)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000504290.5	protein_coding	1/8	-	ENST00000504290.5:c.128G>A	ENSP00000484409.1:p.Arg43His	406	128	43	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	deleterious(0.04)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000504937.5	protein_coding	1/7	-	ENST00000504937.5:c.128G>A	ENSP00000481179.1:p.Arg43His	406	128	43	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	tolerated(0.09)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	non_coding_transcript_exon_variant	MODIFIER	TP53	ENSG00000141510	Transcript	ENST00000505014.5	retained_intron	4/5	-	ENST00000505014.5:n.780G>A	-	780	-	-	-	-	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	2	-	-	-	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000508793.6	protein_coding	5/11	-	ENST00000508793.6:c.524G>A	ENSP00000424104.2:p.Arg175His	806	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	4	P4	-	tolerated(0.08)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000509690.6	protein_coding	2/8	-	ENST00000509690.6:c.128G>A	ENSP00000425104.2:p.Arg43His	260	128	43	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	4	-	-	tolerated(0.09)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000510385.5	protein_coding	1/8	-	ENST00000510385.5:c.128G>A	ENSP00000478499.1:p.Arg43His	406	128	43	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	deleterious(0.05)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000514944.6	protein_coding	4/10	-	ENST00000514944.6:c.245G>A	ENSP00000423862.2:p.Arg82His	324	245	82	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	tolerated(0.07)	possibly_damaging(0.704)	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	non_coding_transcript_exon_variant	MODIFIER	TP53	ENSG00000141510	Transcript	ENST00000574684.1	protein_coding_CDS_not_defined	1/2	-	ENST00000574684.1:n.32G>A	-	32	-	-	-	-	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	-	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000576024.2	protein_coding	5/10	-	ENST00000576024.2:c.524G>A	ENSP00000458393.2:p.Arg175His	687	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	tolerated(0.07)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000604348.6	protein_coding	5/11	-	ENST00000604348.6:c.503G>A	ENSP00000473895.2:p.Arg168His	642	503	168	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	4	-	-	tolerated(0.08)	possibly_damaging(0.798)	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000610292.4	protein_coding	4/10	-	ENST00000610292.4:c.407G>A	ENSP00000478219.1:p.Arg136His	774	407	136	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	tolerated(0.07)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000610538.4	protein_coding	5/12	-	ENST00000610538.4:c.407G>A	ENSP00000480868.1:p.Arg136His	657	407	136	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	tolerated(0.05)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000610623.4	protein_coding	1/8	-	ENST00000610623.4:c.47G>A	ENSP00000477531.1:p.Arg16His	406	47	16	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	deleterious(0.04)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000618944.4	protein_coding	1/8	-	ENST00000618944.4:c.47G>A	ENSP00000481401.1:p.Arg16His	406	47	16	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	deleterious_low_confidence(0.04)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000619186.4	protein_coding	1/7	-	ENST00000619186.4:c.47G>A	ENSP00000484375.1:p.Arg16His	406	47	16	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	tolerated(0.05)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000619485.4	protein_coding	5/11	-	ENST00000619485.4:c.407G>A	ENSP00000482537.1:p.Arg136His	660	407	136	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	tolerated(0.07)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000620739.4	protein_coding	5/11	-	ENST00000620739.4:c.407G>A	ENSP00000481638.1:p.Arg136His	714	407	136	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	tolerated(0.07)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000622645.4	protein_coding	5/12	-	ENST00000622645.4:c.407G>A	ENSP00000482222.1:p.Arg136His	657	407	136	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	1	-	-	tolerated(0.05)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant,NMD_transcript_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000635293.1	nonsense_mediated_decay	5/12	-	ENST00000635293.1:c.407G>A	ENSP00000488924.1:p.Arg136His	667	407	136	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	5	-	-	deleterious_low_confidence(0.05)	probably_damaging(0.957)	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000714356.1	protein_coding	4/10	-	ENST00000714356.1:c.407G>A	ENSP00000519623.1:p.Arg136His	787	407	136	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	-	-	-	tolerated(0.06)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000714357.1	protein_coding	5/11	-	ENST00000714357.1:c.524G>A	ENSP00000519624.1:p.Arg175His	594	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	-	P4	-	tolerated(0.08)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	TP53	ENSG00000141510	Transcript	ENST00000714358.1	nonsense_mediated_decay	4/10	-	ENST00000714358.1:c.*394G>A	-	644	-	-	-	-	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	-	-	-	-	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000714359.1	protein_coding	5/11	-	ENST00000714359.1:c.524G>A	ENSP00000519626.1:p.Arg175His	641	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	-	P4	-	tolerated(0.08)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000714408.1	protein_coding	5/11	-	ENST00000714408.1:c.524G>A	ENSP00000519678.1:p.Arg175His	666	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	-	-	-	tolerated(0.06)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000714409.1	protein_coding	5/10	-	ENST00000714409.1:c.524G>A	ENSP00000519679.1:p.Arg175His	666	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	-	-	-	tolerated(0.07)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000905353.1	protein_coding	5/11	-	ENST00000905353.1:c.524G>A	ENSP00000575412.1:p.Arg175His	619	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	-	P4	-	tolerated(0.08)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000923566.1	protein_coding	5/11	-	ENST00000923566.1:c.524G>A	ENSP00000593625.1:p.Arg175His	668	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	-	P4	-	tolerated(0.08)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000923567.1	protein_coding	5/11	-	ENST00000923567.1:c.524G>A	ENSP00000593626.1:p.Arg175His	787	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	-	P4	-	tolerated(0.08)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000923568.1	protein_coding	5/11	-	ENST00000923568.1:c.524G>A	ENSP00000593627.1:p.Arg175His	708	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	-	P4	-	tolerated(0.08)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000923569.1	protein_coding	4/10	-	ENST00000923569.1:c.524G>A	ENSP00000593628.1:p.Arg175His	707	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	-	P4	-	tolerated(0.08)	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7675088-7675088	T	missense_variant	MODERATE	TP53	ENSG00000141510	Transcript	ENST00000949117.1	protein_coding	5/11	-	ENST00000949117.1:c.524G>A	ENSP00000619176.1:p.Arg175His	666	524	175	R/H	cGc/cAc	rs28934578,CM062017,CM951224,COSV52661038,COSV52677601,COSV52731306,COSV53801286	C	C/T	-	-1	-	HGNC	HGNC:11998	-	-	-	-	-	A2	-	-	-	-	4.104e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	0	0	0	0	0	0	0	1.47e-05	0	0	pathogenic,likely_pathogenic	0,0,0,1,1,1,1	1,1,1,1,1,1,1	-	-	-	-	-	likely_pathogenic	0.9857	-	-	-	-
.	17:7807669-7807669	G	intron_variant	MODIFIER	DNAH2	ENSG00000183914	Transcript	ENST00000389173.6	protein_coding	-	62/84	ENST00000389173.6:c.9729+83C>G	-	-	-	-	-	-	-	C	C/G	-	1	-	HGNC	HGNC:2948	-	-	-	-	2	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7807669-7807669	G	intron_variant	MODIFIER	DNAH2	ENSG00000183914	Transcript	ENST00000572933.6	protein_coding	-	63/85	ENST00000572933.6:c.9729+83C>G	-	-	-	-	-	-	-	C	C/G	-	1	-	HGNC	HGNC:2948	YES	MANE_Select	NM_020877.5	-	2	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7807669-7807669	G	intron_variant	MODIFIER	DNAH2	ENSG00000183914	Transcript	ENST00000575105.1	protein_coding	-	4/22	ENST00000575105.1:c.576+83C>G	-	-	-	-	-	-	-	C	C/G	-	1	cds_start_NF,cds_end_NF	HGNC	HGNC:2948	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	synonymous_variant	LOW	CNTROB	ENSG00000170037	Transcript	ENST00000380262.7	protein_coding	17/19	-	ENST00000380262.7:c.2434C>A	ENSP00000369614.3:p.Arg812%3D	3359	2434	812	R	Cga/Aga	COSV66608802	C	C/A	-	1	-	HGNC	HGNC:29616	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	synonymous_variant	LOW	CNTROB	ENSG00000170037	Transcript	ENST00000563694.6	protein_coding	17/19	-	ENST00000563694.6:c.2434C>A	ENSP00000456335.1:p.Arg812%3D	3308	2434	812	R	Cga/Aga	COSV66608802	C	C/A	-	1	-	HGNC	HGNC:29616	YES	MANE_Select	NM_053051.5	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	synonymous_variant	LOW	CNTROB	ENSG00000170037	Transcript	ENST00000565740.5	protein_coding	17/19	-	ENST00000565740.5:c.2434C>A	ENSP00000454840.1:p.Arg812%3D	2434	2434	812	R	Cga/Aga	COSV66608802	C	C/A	-	1	-	HGNC	HGNC:29616	-	-	-	-	5	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	CNTROB	ENSG00000170037	Transcript	ENST00000571632.5	nonsense_mediated_decay	14/14	-	ENST00000571632.5:c.*1843C>A	-	1922	-	-	-	-	COSV66608802	C	C/A	-	1	cds_start_NF	HGNC	HGNC:29616	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	downstream_gene_variant	MODIFIER	CNTROB	ENSG00000170037	Transcript	ENST00000573862.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV66608802	C	C/A	818	1	-	HGNC	HGNC:29616	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	downstream_gene_variant	MODIFIER	CNTROB	ENSG00000170037	Transcript	ENST00000574430.5	retained_intron	-	-	-	-	-	-	-	-	-	COSV66608802	C	C/A	4941	1	-	HGNC	HGNC:29616	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	synonymous_variant	LOW	CNTROB	ENSG00000170037	Transcript	ENST00000576536.1	protein_coding	4/6	-	ENST00000576536.1:c.388C>A	ENSP00000458251.1:p.Arg130%3D	388	388	130	R	Cga/Aga	COSV66608802	C	C/A	-	1	cds_start_NF,cds_end_NF	HGNC	HGNC:29616	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	non_coding_transcript_exon_variant	MODIFIER	CNTROB	ENSG00000170037	Transcript	ENST00000576723.5	retained_intron	10/11	-	ENST00000576723.5:n.1330C>A	-	1330	-	-	-	-	COSV66608802	C	C/A	-	1	-	HGNC	HGNC:29616	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	downstream_gene_variant	MODIFIER	CNTROB	ENSG00000170037	Transcript	ENST00000576922.5	retained_intron	-	-	-	-	-	-	-	-	-	COSV66608802	C	C/A	855	1	-	HGNC	HGNC:29616	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	upstream_gene_variant	MODIFIER	-	ENSG00000294695	Transcript	ENST00000725254.1	lncRNA	-	-	-	-	-	-	-	-	-	COSV66608802	C	C/A	3378	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	upstream_gene_variant	MODIFIER	-	ENSG00000294695	Transcript	ENST00000725255.1	lncRNA	-	-	-	-	-	-	-	-	-	COSV66608802	C	C/A	3569	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	upstream_gene_variant	MODIFIER	-	ENSG00000294695	Transcript	ENST00000725256.1	lncRNA	-	-	-	-	-	-	-	-	-	COSV66608802	C	C/A	3571	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	upstream_gene_variant	MODIFIER	-	ENSG00000294695	Transcript	ENST00000725257.1	lncRNA	-	-	-	-	-	-	-	-	-	COSV66608802	C	C/A	3571	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	upstream_gene_variant	MODIFIER	-	ENSG00000294695	Transcript	ENST00000725258.1	lncRNA	-	-	-	-	-	-	-	-	-	COSV66608802	C	C/A	3573	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	synonymous_variant	LOW	CNTROB	ENSG00000170037	Transcript	ENST00000881813.1	protein_coding	18/20	-	ENST00000881813.1:c.2434C>A	ENSP00000551872.1:p.Arg812%3D	2740	2434	812	R	Cga/Aga	COSV66608802	C	C/A	-	1	-	HGNC	HGNC:29616	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	synonymous_variant	LOW	CNTROB	ENSG00000170037	Transcript	ENST00000881814.1	protein_coding	18/20	-	ENST00000881814.1:c.2521C>A	ENSP00000551873.1:p.Arg841%3D	3393	2521	841	R	Cga/Aga	COSV66608802	C	C/A	-	1	-	HGNC	HGNC:29616	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	synonymous_variant	LOW	CNTROB	ENSG00000170037	Transcript	ENST00000961846.1	protein_coding	17/19	-	ENST00000961846.1:c.2401C>A	ENSP00000631905.1:p.Arg801%3D	3294	2401	801	R	Cga/Aga	COSV66608802	C	C/A	-	1	-	HGNC	HGNC:29616	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	synonymous_variant	LOW	CNTROB	ENSG00000170037	Transcript	ENST00000961847.1	protein_coding	17/19	-	ENST00000961847.1:c.2401C>A	ENSP00000631906.1:p.Arg801%3D	3294	2401	801	R	Cga/Aga	COSV66608802	C	C/A	-	1	-	HGNC	HGNC:29616	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	synonymous_variant	LOW	CNTROB	ENSG00000170037	Transcript	ENST00000961848.1	protein_coding	18/20	-	ENST00000961848.1:c.2521C>A	ENSP00000631907.1:p.Arg841%3D	3386	2521	841	R	Cga/Aga	COSV66608802	C	C/A	-	1	-	HGNC	HGNC:29616	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	synonymous_variant	LOW	CNTROB	ENSG00000170037	Transcript	ENST00000961849.1	protein_coding	17/19	-	ENST00000961849.1:c.2368C>A	ENSP00000631908.1:p.Arg790%3D	3213	2368	790	R	Cga/Aga	COSV66608802	C	C/A	-	1	-	HGNC	HGNC:29616	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	synonymous_variant	LOW	CNTROB	ENSG00000170037	Transcript	ENST00000961850.1	protein_coding	18/20	-	ENST00000961850.1:c.2521C>A	ENSP00000631909.1:p.Arg841%3D	3355	2521	841	R	Cga/Aga	COSV66608802	C	C/A	-	1	-	HGNC	HGNC:29616	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:7948540-7948540	A	synonymous_variant	LOW	CNTROB	ENSG00000170037	Transcript	ENST00000961851.1	protein_coding	17/19	-	ENST00000961851.1:c.2401C>A	ENSP00000631910.1:p.Arg801%3D	3180	2401	801	R	Cga/Aga	COSV66608802	C	C/A	-	1	-	HGNC	HGNC:29616	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,NMD_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000449476.7	nonsense_mediated_decay	-	15/21	ENST00000449476.7:c.2565-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,non_coding_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000578240.1	retained_intron	-	4/6	ENST00000578240.1:n.898-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,non_coding_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000578441.5	retained_intron	-	1/6	ENST00000578441.5:n.171-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,NMD_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000578537.1	nonsense_mediated_decay	-	2/7	ENST00000578537.1:c.372-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:26169	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	downstream_gene_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000579066.1	retained_intron	-	-	-	-	-	-	-	-	-	rs369078366	G	G/T	3949	-1	-	HGNC	HGNC:26169	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000580299.2	protein_coding	-	15/20	ENST00000580299.2:c.2670-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,non_coding_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000581671.2	protein_coding_CDS_not_defined	-	15/22	ENST00000581671.2:n.2659-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000581729.2	protein_coding	-	15/20	ENST00000581729.2:c.2670-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,non_coding_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000581967.2	retained_intron	-	14/19	ENST00000581967.2:n.3122-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000583254.2	retained_intron	4/5	-	ENST00000583254.2:n.4309C>A	-	4309	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000584439.1	retained_intron	1/2	-	ENST00000584439.1:n.249C>A	-	249	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,NMD_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000643543.1	nonsense_mediated_decay	-	15/22	ENST00000643543.1:c.*1377-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000651323.1	protein_coding	-	15/22	ENST00000651323.1:c.2670-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	YES	MANE_Select	NM_025099.6	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699849.1	protein_coding	-	14/19	ENST00000699849.1:c.1773-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,non_coding_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699850.1	retained_intron	-	11/15	ENST00000699850.1:n.1933-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,non_coding_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699851.1	retained_intron	-	15/19	ENST00000699851.1:n.2692-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,NMD_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699852.1	nonsense_mediated_decay	-	15/22	ENST00000699852.1:c.*1346-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,NMD_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699853.1	nonsense_mediated_decay	-	15/21	ENST00000699853.1:c.2670-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,non_coding_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699854.1	retained_intron	-	14/17	ENST00000699854.1:n.2463-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,non_coding_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699855.1	retained_intron	-	14/18	ENST00000699855.1:n.3122-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,NMD_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699856.1	nonsense_mediated_decay	-	15/21	ENST00000699856.1:c.2670-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,non_coding_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699857.1	retained_intron	-	15/20	ENST00000699857.1:n.2678-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,NMD_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699858.1	nonsense_mediated_decay	-	14/18	ENST00000699858.1:c.*1283-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,NMD_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699859.1	nonsense_mediated_decay	-	14/20	ENST00000699859.1:c.2541-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,non_coding_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699860.1	retained_intron	-	4/7	ENST00000699860.1:n.582-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,non_coding_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699861.1	retained_intron	-	15/19	ENST00000699861.1:n.2692-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant,non_coding_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699862.1	retained_intron	-	11/12	ENST00000699862.1:n.3630-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	downstream_gene_variant	MODIFIER	-	ENSG00000305852	Transcript	ENST00000813476.1	lncRNA	-	-	-	-	-	-	-	-	-	rs369078366	G	G/T	4852	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	downstream_gene_variant	MODIFIER	-	ENSG00000305852	Transcript	ENST00000813477.1	lncRNA	-	-	-	-	-	-	-	-	-	rs369078366	G	G/T	4431	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000868169.1	protein_coding	-	14/21	ENST00000868169.1:c.2364-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000932859.1	protein_coding	-	15/22	ENST00000932859.1:c.2670-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000932860.1	protein_coding	-	14/19	ENST00000932860.1:c.2541-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000932861.1	protein_coding	-	15/19	ENST00000932861.1:c.2670-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8230685-8230685	T	intron_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000968384.1	protein_coding	-	15/22	ENST00000968384.1:c.2670-34C>A	-	-	-	-	-	-	rs369078366	G	G/T	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	missense_variant,NMD_transcript_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000449476.7	nonsense_mediated_decay	13/22	-	ENST00000449476.7:c.2195G>T	ENSP00000396018.2:p.Gly732Val	2201	2195	732	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	2	-	-	tolerated(0.41)	unknown(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000578240.1	retained_intron	2/7	-	ENST00000578240.1:n.528G>T	-	528	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	upstream_gene_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000578441.5	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	543	-1	-	HGNC	HGNC:26169	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	missense_variant,NMD_transcript_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000578537.1	nonsense_mediated_decay	1/8	-	ENST00000578537.1:c.197G>T	ENSP00000463230.1:p.Gly66Val	196	197	66	G/V	gGg/gTg	-	C	C/A	-	-1	cds_start_NF	HGNC	HGNC:26169	-	-	-	-	5	-	-	tolerated(0.48)	possibly_damaging(0.889)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	downstream_gene_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000579066.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	2646	-1	-	HGNC	HGNC:26169	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	missense_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000580299.2	protein_coding	13/21	-	ENST00000580299.2:c.2300G>T	ENSP00000462607.2:p.Gly767Val	2322	2300	767	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	5	-	-	tolerated(0.41)	possibly_damaging(0.598)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6164	-	-	-	-
.	17:8231988-8231988	A	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000581671.2	protein_coding_CDS_not_defined	13/23	-	ENST00000581671.2:n.2289G>T	-	2289	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	missense_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000581729.2	protein_coding	13/21	-	ENST00000581729.2:c.2300G>T	ENSP00000462720.2:p.Gly767Val	2322	2300	767	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	3	-	-	tolerated(0.39)	possibly_damaging(0.598)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6164	-	-	-	-
.	17:8231988-8231988	A	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000581967.2	retained_intron	12/20	-	ENST00000581967.2:n.2752G>T	-	2752	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000583254.2	retained_intron	4/5	-	ENST00000583254.2:n.3006G>T	-	3006	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	upstream_gene_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000584439.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	1055	-1	-	HGNC	HGNC:26169	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000643543.1	nonsense_mediated_decay	13/23	-	ENST00000643543.1:c.*1007G>T	-	2248	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	missense_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000651323.1	protein_coding	13/23	-	ENST00000651323.1:c.2300G>T	ENSP00000498499.1:p.Gly767Val	2320	2300	767	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	YES	MANE_Select	NM_025099.6	-	-	P1	-	tolerated(0.35)	probably_damaging(0.98)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6164	-	-	-	-
.	17:8231988-8231988	A	missense_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000699849.1	protein_coding	12/20	-	ENST00000699849.1:c.1403G>T	ENSP00000514647.1:p.Gly468Val	2141	1403	468	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	tolerated(0.4)	possibly_damaging(0.598)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699850.1	retained_intron	9/16	-	ENST00000699850.1:n.1563G>T	-	1563	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699851.1	retained_intron	13/20	-	ENST00000699851.1:n.2322G>T	-	2322	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699852.1	nonsense_mediated_decay	13/23	-	ENST00000699852.1:c.*976G>T	-	2846	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	missense_variant,NMD_transcript_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000699853.1	nonsense_mediated_decay	13/22	-	ENST00000699853.1:c.2300G>T	ENSP00000514649.1:p.Gly767Val	2322	2300	767	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	tolerated(0.4)	possibly_damaging(0.667)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6164	-	-	-	-
.	17:8231988-8231988	A	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699854.1	retained_intron	12/18	-	ENST00000699854.1:n.2093G>T	-	2093	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699855.1	retained_intron	12/19	-	ENST00000699855.1:n.2752G>T	-	2752	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	missense_variant,NMD_transcript_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000699856.1	nonsense_mediated_decay	13/22	-	ENST00000699856.1:c.2300G>T	ENSP00000514650.1:p.Gly767Val	2322	2300	767	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	tolerated(0.38)	probably_damaging(0.98)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6164	-	-	-	-
.	17:8231988-8231988	A	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699857.1	retained_intron	13/21	-	ENST00000699857.1:n.2308G>T	-	2308	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699858.1	nonsense_mediated_decay	12/19	-	ENST00000699858.1:c.*913G>T	-	2168	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	missense_variant,NMD_transcript_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000699859.1	nonsense_mediated_decay	12/21	-	ENST00000699859.1:c.2171G>T	ENSP00000514652.1:p.Gly724Val	2191	2171	724	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	tolerated(0.41)	possibly_damaging(0.771)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699860.1	retained_intron	3/8	-	ENST00000699860.1:n.406G>T	-	406	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699861.1	retained_intron	13/20	-	ENST00000699861.1:n.2322G>T	-	2322	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	non_coding_transcript_exon_variant	MODIFIER	CTC1	ENSG00000178971	Transcript	ENST00000699862.1	retained_intron	9/13	-	ENST00000699862.1:n.3260G>T	-	3260	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	missense_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000868169.1	protein_coding	12/22	-	ENST00000868169.1:c.1994G>T	ENSP00000538228.1:p.Gly665Val	2002	1994	665	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	missense_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000932859.1	protein_coding	13/23	-	ENST00000932859.1:c.2300G>T	ENSP00000602918.1:p.Gly767Val	2322	2300	767	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6164	-	-	-	-
.	17:8231988-8231988	A	missense_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000932860.1	protein_coding	12/20	-	ENST00000932860.1:c.2171G>T	ENSP00000602919.1:p.Gly724Val	2177	2171	724	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8231988-8231988	A	missense_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000932861.1	protein_coding	13/20	-	ENST00000932861.1:c.2300G>T	ENSP00000602920.1:p.Gly767Val	2316	2300	767	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6164	-	-	-	-
.	17:8231988-8231988	A	missense_variant	MODERATE	CTC1	ENSG00000178971	Transcript	ENST00000968384.1	protein_coding	13/23	-	ENST00000968384.1:c.2300G>T	ENSP00000638443.1:p.Gly767Val	2305	2300	767	G/V	gGg/gTg	-	C	C/A	-	-1	-	HGNC	HGNC:26169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6164	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000314666.11	protein_coding	-	4/27	ENST00000314666.11:c.385-160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	YES	MANE_Select	NM_012393.3	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant,NMD_transcript_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000580356.5	nonsense_mediated_decay	-	4/25	ENST00000580356.5:c.384+210G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	downstream_gene_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000581242.3	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	284	1	cds_end_NF	HGNC	HGNC:8863	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000584044.5	protein_coding	-	4/4	ENST00000584044.5:c.385-160G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:8863	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	downstream_gene_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000585183.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1056	1	cds_end_NF	HGNC	HGNC:8863	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000625942.1	protein_coding	-	3/3	ENST00000625942.1:c.384+210G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000897613.1	protein_coding	-	4/27	ENST00000897613.1:c.385-160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000937382.1	protein_coding	-	4/27	ENST00000937382.1:c.385-160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000937383.1	protein_coding	-	4/26	ENST00000937383.1:c.385-160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000937384.1	protein_coding	-	4/27	ENST00000937384.1:c.385-160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000937385.1	protein_coding	-	4/27	ENST00000937385.1:c.384+210G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000937386.1	protein_coding	-	4/26	ENST00000937386.1:c.385-160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000937387.1	protein_coding	-	4/27	ENST00000937387.1:c.385-160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000937388.1	protein_coding	-	4/26	ENST00000937388.1:c.385-160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000937389.1	protein_coding	-	4/27	ENST00000937389.1:c.385-160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8255342-8255342	T	intron_variant	MODIFIER	PFAS	ENSG00000178921	Transcript	ENST00000955445.1	protein_coding	-	4/27	ENST00000955445.1:c.385-160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8863	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8319587-8319587	T	synonymous_variant	LOW	ARHGEF15	ENSG00000198844	Transcript	ENST00000361926.8	protein_coding	15/16	-	ENST00000361926.8:c.2358G>T	ENSP00000355026.3:p.Leu786%3D	2510	2358	786	L	ctG/ctT	-	G	G/T	-	1	-	HGNC	HGNC:15590	YES	MANE_Select	NM_173728.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8319587-8319587	T	synonymous_variant	LOW	ARHGEF15	ENSG00000198844	Transcript	ENST00000421050.2	protein_coding	15/16	-	ENST00000421050.2:c.2358G>T	ENSP00000412505.1:p.Leu786%3D	2449	2358	786	L	ctG/ctT	-	G	G/T	-	1	-	HGNC	HGNC:15590	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8319587-8319587	T	upstream_gene_variant	MODIFIER	-	ENSG00000226871	Transcript	ENST00000458568.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	875	-1	-	-	-	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8319587-8319587	T	downstream_gene_variant	MODIFIER	ARHGEF15	ENSG00000198844	Transcript	ENST00000578286.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4013	1	-	HGNC	HGNC:15590	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8319587-8319587	T	downstream_gene_variant	MODIFIER	ARHGEF15	ENSG00000198844	Transcript	ENST00000582060.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	429	1	-	HGNC	HGNC:15590	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8319587-8319587	T	synonymous_variant	LOW	ARHGEF15	ENSG00000198844	Transcript	ENST00000647883.1	protein_coding	12/13	-	ENST00000647883.1:c.1821G>T	ENSP00000498197.1:p.Leu607%3D	1821	1821	607	L	ctG/ctT	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:15590	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8319587-8319587	T	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000226871	Transcript	ENST00000820533.1	lncRNA	-	1/3	ENST00000820533.1:n.100-808C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8319587-8319587	T	upstream_gene_variant	MODIFIER	-	ENSG00000226871	Transcript	ENST00000820534.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3926	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8319587-8319587	T	upstream_gene_variant	MODIFIER	-	ENSG00000226871	Transcript	ENST00000820535.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3790	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8319587-8319587	T	synonymous_variant	LOW	ARHGEF15	ENSG00000198844	Transcript	ENST00000852584.1	protein_coding	15/16	-	ENST00000852584.1:c.2403G>T	ENSP00000522643.1:p.Leu801%3D	2555	2403	801	L	ctG/ctT	-	G	G/T	-	1	-	HGNC	HGNC:15590	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8319587-8319587	T	synonymous_variant	LOW	ARHGEF15	ENSG00000198844	Transcript	ENST00000852585.1	protein_coding	14/15	-	ENST00000852585.1:c.2025G>T	ENSP00000522644.1:p.Leu675%3D	2138	2025	675	L	ctG/ctT	-	G	G/T	-	1	-	HGNC	HGNC:15590	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8319587-8319587	T	synonymous_variant	LOW	ARHGEF15	ENSG00000198844	Transcript	ENST00000852586.1	protein_coding	14/15	-	ENST00000852586.1:c.2205G>T	ENSP00000522645.1:p.Leu735%3D	2311	2205	735	L	ctG/ctT	-	G	G/T	-	1	-	HGNC	HGNC:15590	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	intron_variant	MODIFIER	SPDYE4	ENSG00000183318	Transcript	ENST00000328794.10	protein_coding	-	5/5	ENST00000328794.10:c.654+30T>G	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	-	-1	-	HGNC	HGNC:35463	-	-	-	-	1	P1	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	downstream_gene_variant	MODIFIER	SPDYE4	ENSG00000183318	Transcript	ENST00000580999.1	protein_coding	-	-	-	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	2094	-1	cds_start_NF	HGNC	HGNC:35463	-	-	-	-	3	-	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	intron_variant,NMD_transcript_variant	MODIFIER	SPDYE4	ENSG00000183318	Transcript	ENST00000582989.1	nonsense_mediated_decay	-	5/5	ENST00000582989.1:c.*533+30T>G	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	-	-1	-	HGNC	HGNC:35463	-	-	-	-	1	-	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	intron_variant	MODIFIER	SPDYE4	ENSG00000183318	Transcript	ENST00000688021.1	protein_coding	-	5/6	ENST00000688021.1:c.654+30T>G	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	-	-1	-	HGNC	HGNC:35463	-	-	-	-	-	P1	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	intron_variant	MODIFIER	SPDYE4	ENSG00000183318	Transcript	ENST00000689094.1	protein_coding	-	5/6	ENST00000689094.1:c.654+30T>G	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	-	-1	-	HGNC	HGNC:35463	YES	MANE_Select	NM_001394956.1	-	-	P1	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000297596	Transcript	ENST00000749116.1	lncRNA	-	2/3	ENST00000749116.1:n.188+6666A>C	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	-	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000297596	Transcript	ENST00000749117.1	lncRNA	-	3/3	ENST00000749117.1:n.423+4763A>C	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000297596	Transcript	ENST00000749118.1	lncRNA	-	2/2	ENST00000749118.1:n.180+6666A>C	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000297596	Transcript	ENST00000749119.1	lncRNA	-	2/2	ENST00000749119.1:n.280+6666A>C	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000297596	Transcript	ENST00000749120.1	lncRNA	-	3/3	ENST00000749120.1:n.424+4763A>C	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000297596	Transcript	ENST00000749121.1	lncRNA	-	2/3	ENST00000749121.1:n.184+6666A>C	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	downstream_gene_variant	MODIFIER	-	ENSG00000297596	Transcript	ENST00000749122.1	lncRNA	-	-	-	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	4508	1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	downstream_gene_variant	MODIFIER	-	ENSG00000297596	Transcript	ENST00000749123.1	lncRNA	-	-	-	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	4606	1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:8753291-8753291	C	downstream_gene_variant	MODIFIER	-	ENSG00000297596	Transcript	ENST00000749124.1	lncRNA	-	-	-	-	-	-	-	-	-	rs764660808,COSV60905002	A	A/C	4606	1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.04743	0.02446	0.02073	0.02672	0.01523	0.06976	0.0233	0.04743	0.0409	0.0817	0.08916	0.08727	0.07547	0.07829	0.09804	0.07377	0.05886	0.03846	0.09763	0.09563	0.0824	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:9221364-9221364	T	intron_variant	MODIFIER	NTN1	ENSG00000065320	Transcript	ENST00000173229.7	protein_coding	-	6/6	ENST00000173229.7:c.1486+122G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8029	YES	MANE_Select	NM_004822.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9221364-9221364	T	intron_variant	MODIFIER	NTN1	ENSG00000065320	Transcript	ENST00000962853.1	protein_coding	-	6/6	ENST00000962853.1:c.1486+122G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8029	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9836306-9836306	T	intron_variant	MODIFIER	GLP2R	ENSG00000065325	Transcript	ENST00000262441.10	protein_coding	-	2/12	ENST00000262441.10:c.278-65G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4325	YES	MANE_Select	NM_004246.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9836306-9836306	T	intron_variant,NMD_transcript_variant	MODIFIER	GLP2R	ENSG00000065325	Transcript	ENST00000458005.2	nonsense_mediated_decay	-	3/10	ENST00000458005.2:c.*242-65G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4325	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9836306-9836306	T	intron_variant	MODIFIER	GLP2R	ENSG00000065325	Transcript	ENST00000574745.5	protein_coding	-	2/12	ENST00000574745.5:c.-263-65G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4325	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9836306-9836306	T	intron_variant	MODIFIER	GLP2R	ENSG00000065325	Transcript	ENST00000896670.1	protein_coding	-	2/12	ENST00000896670.1:c.278-65G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4325	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9836306-9836306	T	intron_variant	MODIFIER	GLP2R	ENSG00000065325	Transcript	ENST00000896671.1	protein_coding	-	2/11	ENST00000896671.1:c.278-65G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4325	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000323816.8	protein_coding	-	6/14	ENST00000323816.8:c.345+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000396115.6	protein_coding	-	5/6	ENST00000396115.6:c.333+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000432992.7	protein_coding	-	5/13	ENST00000432992.7:c.525+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	YES	MANE_Select	NM_201433.2	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000437099.6	protein_coding	-	5/13	ENST00000437099.6:c.333+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000542249.5	protein_coding	-	5/13	ENST00000542249.5:c.333+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000578599.5	protein_coding	-	5/5	ENST00000578599.5:c.333+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	cds_end_NF	HGNC	HGNC:4169	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant,non_coding_transcript_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000578655.1	protein_coding_CDS_not_defined	-	4/5	ENST00000578655.1:n.485+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant,non_coding_transcript_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000579140.5	protein_coding_CDS_not_defined	-	1/2	ENST00000579140.5:n.269-12205G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000579158.5	protein_coding	-	4/12	ENST00000579158.5:c.333+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	downstream_gene_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000580043.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/G	28	-1	cds_end_NF	HGNC	HGNC:4169	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant,non_coding_transcript_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000580811.5	protein_coding_CDS_not_defined	-	2/6	ENST00000580811.5:n.167+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000580865.5	protein_coding	-	1/9	ENST00000580865.5:c.105+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	upstream_gene_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000581871.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	C	C/G	185	-1	-	HGNC	HGNC:4169	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000583882.5	protein_coding	-	1/2	ENST00000583882.5:c.105+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000584146.6	protein_coding	-	6/7	ENST00000584146.6:c.333+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	cds_end_NF	HGNC	HGNC:4169	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000584389.5	protein_coding	-	5/5	ENST00000584389.5:c.333+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	cds_end_NF	HGNC	HGNC:4169	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000585266.5	protein_coding	-	5/13	ENST00000585266.5:c.345+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:9959188-9959188	G	intron_variant	MODIFIER	GAS7	ENSG00000007237	Transcript	ENST00000861253.1	protein_coding	-	4/12	ENST00000861253.1:c.444+14G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:4169	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000399342.6	lncRNA	-	1/3	ENST00000399342.6:n.76+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant	MODIFIER	MYH8	ENSG00000133020	Transcript	ENST00000403437.2	protein_coding	-	35/39	ENST00000403437.2:c.5167-62C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7578	YES	MANE_Select	NM_002472.3	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000581304.2	lncRNA	-	1/4	ENST00000581304.2:n.52+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000584139.2	lncRNA	-	3/8	ENST00000584139.2:n.440-12876G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	YES	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000715356.1	lncRNA	-	2/6	ENST00000715356.1:n.216-12876G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789820.1	lncRNA	-	1/3	ENST00000789820.1:n.78+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789821.1	lncRNA	-	1/4	ENST00000789821.1:n.78+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789822.1	lncRNA	-	1/4	ENST00000789822.1:n.93+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789823.1	lncRNA	-	1/4	ENST00000789823.1:n.78+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789824.1	lncRNA	-	1/3	ENST00000789824.1:n.81+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789825.1	lncRNA	-	1/3	ENST00000789825.1:n.57+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789826.1	lncRNA	-	1/2	ENST00000789826.1:n.78+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789827.1	lncRNA	-	1/2	ENST00000789827.1:n.57+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789828.1	lncRNA	-	1/1	ENST00000789828.1:n.93+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789829.1	lncRNA	-	1/2	ENST00000789829.1:n.73+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789830.1	lncRNA	-	2/2	ENST00000789830.1:n.178+8158G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10393272-10393272	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000850668.1	lncRNA	-	1/7	ENST00000850668.1:n.78+10065G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	missense_variant	MODERATE	MYH1	ENSG00000109061	Transcript	ENST00000226207.6	protein_coding	29/40	-	ENST00000226207.6:c.3917C>T	ENSP00000226207.5:p.Ser1306Leu	4011	3917	1306	S/L	tCg/tTg	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	-1	-	HGNC	HGNC:7567	YES	MANE_Select	NM_005963.4	-	5	P3	-	deleterious_low_confidence(0.01)	benign(0.005)	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	likely_benign	0.0929	-	-	-	-
.	17:10499041-10499041	A	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000399342.6	lncRNA	-	2/3	ENST00000399342.6:n.207-34283G>A	-	-	-	-	-	-	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	1	-	HGNC	HGNC:50609	-	-	-	-	3	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000581304.2	lncRNA	-	2/4	ENST00000581304.2:n.144-34283G>A	-	-	-	-	-	-	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	1	-	HGNC	HGNC:50609	-	-	-	-	3	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000584139.2	lncRNA	-	4/8	ENST00000584139.2:n.530+92803G>A	-	-	-	-	-	-	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	1	-	HGNC	HGNC:50609	YES	-	-	-	3	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000715356.1	lncRNA	-	3/6	ENST00000715356.1:n.306+92803G>A	-	-	-	-	-	-	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789820.1	lncRNA	-	2/3	ENST00000789820.1:n.170-34283G>A	-	-	-	-	-	-	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789821.1	lncRNA	-	2/4	ENST00000789821.1:n.170-14568G>A	-	-	-	-	-	-	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	downstream_gene_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789822.1	lncRNA	-	-	-	-	-	-	-	-	-	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	585	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	downstream_gene_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789823.1	lncRNA	-	-	-	-	-	-	-	-	-	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	651	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	downstream_gene_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789824.1	lncRNA	-	-	-	-	-	-	-	-	-	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	1082	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	downstream_gene_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000789825.1	lncRNA	-	-	-	-	-	-	-	-	-	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	1082	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000850668.1	lncRNA	-	2/7	ENST00000850668.1:n.169+92803G>A	-	-	-	-	-	-	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	1	-	HGNC	HGNC:50609	-	-	-	-	-	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	missense_variant	MODERATE	MYH1	ENSG00000109061	Transcript	ENST00000958695.1	protein_coding	29/40	-	ENST00000958695.1:c.3917C>T	ENSP00000628754.1:p.Ser1306Leu	4111	3917	1306	S/L	tCg/tTg	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	-1	-	HGNC	HGNC:7567	-	-	-	-	-	P3	-	deleterious_low_confidence(0.01)	benign(0.005)	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	likely_benign	0.0929	-	-	-	-
.	17:10499041-10499041	A	missense_variant	MODERATE	MYH1	ENSG00000109061	Transcript	ENST00000958696.1	protein_coding	28/39	-	ENST00000958696.1:c.3917C>T	ENSP00000628755.1:p.Ser1306Leu	4157	3917	1306	S/L	tCg/tTg	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	-1	-	HGNC	HGNC:7567	-	-	-	-	-	P3	-	deleterious_low_confidence(0.01)	benign(0.005)	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	likely_benign	0.0929	-	-	-	-
.	17:10499041-10499041	A	missense_variant	MODERATE	MYH1	ENSG00000109061	Transcript	ENST00000958697.1	protein_coding	28/39	-	ENST00000958697.1:c.3917C>T	ENSP00000628756.1:p.Ser1306Leu	4260	3917	1306	S/L	tCg/tTg	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	-1	-	HGNC	HGNC:7567	-	-	-	-	-	P3	-	deleterious_low_confidence(0.01)	benign(0.005)	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	likely_benign	0.0929	-	-	-	-
.	17:10499041-10499041	A	missense_variant	MODERATE	MYH1	ENSG00000109061	Transcript	ENST00000958698.1	protein_coding	28/39	-	ENST00000958698.1:c.3767C>T	ENSP00000628757.1:p.Ser1256Leu	3861	3767	1256	S/L	tCg/tTg	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	-1	-	HGNC	HGNC:7567	-	-	-	-	-	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	missense_variant	MODERATE	MYH1	ENSG00000109061	Transcript	ENST00000958699.1	protein_coding	29/40	-	ENST00000958699.1:c.3917C>T	ENSP00000628758.1:p.Ser1306Leu	3973	3917	1306	S/L	tCg/tTg	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	-1	-	HGNC	HGNC:7567	-	-	-	-	-	P3	-	deleterious_low_confidence(0.01)	benign(0.005)	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	likely_benign	0.0929	-	-	-	-
.	17:10499041-10499041	A	missense_variant	MODERATE	MYH1	ENSG00000109061	Transcript	ENST00000958700.1	protein_coding	29/40	-	ENST00000958700.1:c.3875C>T	ENSP00000628759.1:p.Ser1292Leu	3969	3875	1292	S/L	tCg/tTg	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	-1	-	HGNC	HGNC:7567	-	-	-	-	-	-	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	missense_variant	MODERATE	MYH1	ENSG00000109061	Transcript	ENST00000958701.1	protein_coding	29/40	-	ENST00000958701.1:c.3905C>T	ENSP00000628760.1:p.Ser1302Leu	3999	3905	1302	S/L	tCg/tTg	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	-1	-	HGNC	HGNC:7567	-	-	-	-	-	A1	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:10499041-10499041	A	missense_variant	MODERATE	MYH1	ENSG00000109061	Transcript	ENST00000958702.1	protein_coding	28/39	-	ENST00000958702.1:c.3917C>T	ENSP00000628761.1:p.Ser1306Leu	4236	3917	1306	S/L	tCg/tTg	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	-1	-	HGNC	HGNC:7567	-	-	-	-	-	P3	-	deleterious_low_confidence(0.01)	benign(0.005)	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	likely_benign	0.0929	-	-	-	-
.	17:10499041-10499041	A	missense_variant	MODERATE	MYH1	ENSG00000109061	Transcript	ENST00000958703.1	protein_coding	28/39	-	ENST00000958703.1:c.3917C>T	ENSP00000628762.1:p.Ser1306Leu	4221	3917	1306	S/L	tCg/tTg	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	-1	-	HGNC	HGNC:7567	-	-	-	-	-	A1	-	-	-	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	likely_benign	0.0929	-	-	-	-
.	17:10499041-10499041	A	missense_variant	MODERATE	MYH1	ENSG00000109061	Transcript	ENST00000958704.1	protein_coding	28/39	-	ENST00000958704.1:c.3917C>T	ENSP00000628763.1:p.Ser1306Leu	4126	3917	1306	S/L	tCg/tTg	rs752643679,COSV106051765,COSV56851278,COSV56855512	G	G/A	-	-1	-	HGNC	HGNC:7567	-	-	-	-	-	P3	-	deleterious_low_confidence(0.01)	benign(0.005)	-	1.163e-05	2.987e-05	0	0	0	0	0	9.892e-06	0	5.797e-05	1.972e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0002071	-	0,1,1,1	0,1,1,1	-	-	-	-	-	likely_benign	0.0929	-	-	-	-
.	17:10647440-10647440	T	downstream_gene_variant	MODIFIER	MYH3	ENSG00000109063	Transcript	ENST00000579489.2	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1195	-1	-	HGNC	HGNC:7573	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10647440-10647440	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000579914.2	lncRNA	-	4/4	ENST00000579914.2:n.705+33563G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10647440-10647440	T	downstream_gene_variant	MODIFIER	MYH3	ENSG00000109063	Transcript	ENST00000582580.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4833	-1	-	HGNC	HGNC:7573	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10647440-10647440	T	splice_polypyrimidine_tract_variant,intron_variant	LOW	MYH3	ENSG00000109063	Transcript	ENST00000583535.6	protein_coding	-	8/40	ENST00000583535.6:c.736-14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7573	YES	MANE_Select	NM_002470.4	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10647440-10647440	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYHAS	ENSG00000272975	Transcript	ENST00000584139.2	lncRNA	-	7/8	ENST00000584139.2:n.1042-33293G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:50609	YES	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:10647440-10647440	T	splice_polypyrimidine_tract_variant,intron_variant	LOW	MYH3	ENSG00000109063	Transcript	ENST00000961194.1	protein_coding	-	7/39	ENST00000961194.1:c.736-14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7573	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:11664614-11664614	T	intron_variant	MODIFIER	DNAH9	ENSG00000007174	Transcript	ENST00000262442.9	protein_coding	-	14/68	ENST00000262442.9:c.2596-219G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:2953	YES	MANE_Select	NM_001372.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:11664614-11664614	T	intron_variant	MODIFIER	DNAH9	ENSG00000007174	Transcript	ENST00000454412.6	protein_coding	-	14/67	ENST00000454412.6:c.2596-219G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:2953	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:11784435-11784435	C	missense_variant	MODERATE	DNAH9	ENSG00000007174	Transcript	ENST00000262442.9	protein_coding	41/69	-	ENST00000262442.9:c.7957G>C	ENSP00000262442.3:p.Asp2653His	7986	7957	2653	D/H	Gat/Cat	COSV52375013,COSV52381788	G	G/C	-	1	-	HGNC	HGNC:2953	YES	MANE_Select	NM_001372.4	-	1	P1	-	tolerated_low_confidence(0.18)	benign(0.005)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	likely_benign	0.1251	-	-	-	-
.	17:11784435-11784435	C	missense_variant	MODERATE	DNAH9	ENSG00000007174	Transcript	ENST00000454412.6	protein_coding	41/68	-	ENST00000454412.6:c.7957G>C	ENSP00000414874.2:p.Asp2653His	7957	7957	2653	D/H	Gat/Cat	COSV52375013,COSV52381788	G	G/C	-	1	-	HGNC	HGNC:2953	-	-	-	-	5	-	-	tolerated_low_confidence(0.15)	benign(0.031)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	likely_benign	0.1251	-	-	-	-
.	17:12236060-12236060	C	intergenic_variant	MODIFIER	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	G	G/C	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:12895125-12895125	T	intron_variant	MODIFIER	ARHGAP44	ENSG00000006740	Transcript	ENST00000262444.13	protein_coding	-	2/21	ENST00000262444.13:c.93+146G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29096	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:12895125-12895125	T	intron_variant	MODIFIER	ARHGAP44	ENSG00000006740	Transcript	ENST00000340825.7	protein_coding	-	2/19	ENST00000340825.7:c.93+146G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29096	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:12895125-12895125	T	intron_variant	MODIFIER	ARHGAP44	ENSG00000006740	Transcript	ENST00000379672.10	protein_coding	-	2/20	ENST00000379672.10:c.93+146G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29096	YES	MANE_Select	NM_014859.6	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:12895125-12895125	T	intron_variant,NMD_transcript_variant	MODIFIER	ARHGAP44	ENSG00000006740	Transcript	ENST00000544416.6	nonsense_mediated_decay	-	2/17	ENST00000544416.6:c.93+146G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29096	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:12895125-12895125	T	intron_variant,non_coding_transcript_variant	MODIFIER	ARHGAP44	ENSG00000006740	Transcript	ENST00000578442.1	retained_intron	-	2/6	ENST00000578442.1:n.295+146G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29096	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:12895125-12895125	T	intron_variant,NMD_transcript_variant	MODIFIER	ARHGAP44	ENSG00000006740	Transcript	ENST00000580768.5	nonsense_mediated_decay	-	2/19	ENST00000580768.5:c.93+146G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29096	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:12895125-12895125	T	intron_variant	MODIFIER	ARHGAP44	ENSG00000006740	Transcript	ENST00000860012.1	protein_coding	-	2/18	ENST00000860012.1:c.93+146G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29096	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:12895125-12895125	T	intron_variant	MODIFIER	ARHGAP44	ENSG00000006740	Transcript	ENST00000860013.1	protein_coding	-	2/18	ENST00000860013.1:c.93+146G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29096	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:12895125-12895125	T	intron_variant	MODIFIER	ARHGAP44	ENSG00000006740	Transcript	ENST00000860014.1	protein_coding	-	2/19	ENST00000860014.1:c.93+146G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29096	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:12895125-12895125	T	intron_variant	MODIFIER	ARHGAP44	ENSG00000006740	Transcript	ENST00000860015.1	protein_coding	-	2/17	ENST00000860015.1:c.93+146G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29096	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16617165-16617166	-	downstream_gene_variant	MODIFIER	ZNF624	ENSG00000197566	Transcript	ENST00000311331.12	protein_coding	-	-	-	-	-	-	-	-	-	-	T	CT/C	3568	-1	-	HGNC	HGNC:29254	YES	MANE_Select	NM_020787.4	-	2	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16617165-16617166	-	non_coding_transcript_exon_variant	MODIFIER	SRSF6P2	ENSG00000235554	Transcript	ENST00000414124.1	processed_pseudogene	1/1	-	ENST00000414124.1:n.716del	-	716	-	-	-	-	-	T	CT/C	-	-1	-	HGNC	HGNC:54947	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16617165-16617166	-	downstream_gene_variant	MODIFIER	ZNF624	ENSG00000197566	Transcript	ENST00000579528.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	CT/C	3580	-1	-	HGNC	HGNC:29254	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16617165-16617166	-	downstream_gene_variant	MODIFIER	ZNF624	ENSG00000197566	Transcript	ENST00000895853.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	CT/C	3570	-1	-	HGNC	HGNC:29254	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	intron_variant,non_coding_transcript_variant	MODIFIER	KRT17P1	ENSG00000131885	Transcript	ENST00000399211.8	transcribed_unprocessed_pseudogene	-	7/7	ENST00000399211.8:n.1204+41A>T	-	-	-	-	-	-	rs2656382	T	T/A	-	-1	-	HGNC	HGNC:6428	YES	-	-	-	-	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	downstream_gene_variant	MODIFIER	-	ENSG00000291277	Transcript	ENST00000577449.1	retained_intron	-	-	-	-	-	-	-	-	-	rs2656382	T	T/A	1687	-1	-	-	-	-	-	-	-	5	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	downstream_gene_variant	MODIFIER	-	ENSG00000291277	Transcript	ENST00000580363.1	lncRNA	-	-	-	-	-	-	-	-	-	rs2656382	T	T/A	2065	-1	-	-	-	YES	-	-	-	5	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	non_coding_transcript_exon_variant	MODIFIER	-	ENSG00000290979	Transcript	ENST00000582047.2	retained_intron	3/3	-	ENST00000582047.2:n.487A>T	-	487	-	-	-	-	rs2656382	T	T/A	-	-1	-	-	-	-	-	-	-	2	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	downstream_gene_variant	MODIFIER	-	ENSG00000291277	Transcript	ENST00000582224.1	retained_intron	-	-	-	-	-	-	-	-	-	rs2656382	T	T/A	1150	-1	-	-	-	-	-	-	-	4	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000298654	Transcript	ENST00000757128.1	lncRNA	-	2/2	ENST00000757128.1:n.214-183T>A	-	-	-	-	-	-	rs2656382	T	T/A	-	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000298654	Transcript	ENST00000757129.1	lncRNA	-	1/1	ENST00000757129.1:n.115-183T>A	-	-	-	-	-	-	rs2656382	T	T/A	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000298654	Transcript	ENST00000757130.1	lncRNA	-	2/2	ENST00000757130.1:n.179+185T>A	-	-	-	-	-	-	rs2656382	T	T/A	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000290979	Transcript	ENST00000757211.1	lncRNA	-	4/4	ENST00000757211.1:n.398+29A>T	-	-	-	-	-	-	rs2656382	T	T/A	-	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000290979	Transcript	ENST00000757212.1	lncRNA	-	2/2	ENST00000757212.1:n.448+163A>T	-	-	-	-	-	-	rs2656382	T	T/A	-	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000290979	Transcript	ENST00000757213.1	lncRNA	-	3/3	ENST00000757213.1:n.458+29A>T	-	-	-	-	-	-	rs2656382	T	T/A	-	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	upstream_gene_variant	MODIFIER	-	ENSG00000290978	Transcript	ENST00000793437.1	lncRNA	-	-	-	-	-	-	-	-	-	rs2656382	T	T/A	1090	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	upstream_gene_variant	MODIFIER	-	ENSG00000290978	Transcript	ENST00000793438.1	lncRNA	-	-	-	-	-	-	-	-	-	rs2656382	T	T/A	1138	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.8579	0.8692	0.9153	0.8675	0.9999	0.8471	0.8675	0.832	0.8597	0.9466	0.8793	0.887	0.8296	0.8963	0.8628	0.9991	0.8499	0.8551	0.8643	0.8702	0.9554	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000268717.10	protein_coding	-	5/11	ENST00000268717.10:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	YES	MANE_Select	NM_003653.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000417352.5	protein_coding	-	5/8	ENST00000417352.5:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:2239	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000439936.6	protein_coding	-	5/10	ENST00000439936.6:c.381+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant,non_coding_transcript_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000462236.1	retained_intron	-	4/4	ENST00000462236.1:n.503+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant,NMD_transcript_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000477299.5	nonsense_mediated_decay	-	5/5	ENST00000477299.5:c.*158+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant,non_coding_transcript_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000486810.5	retained_intron	-	3/5	ENST00000486810.5:n.444+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant,NMD_transcript_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000492672.5	nonsense_mediated_decay	-	5/6	ENST00000492672.5:c.*364+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant,NMD_transcript_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000495640.1	nonsense_mediated_decay	-	2/2	ENST00000495640.1:c.*158+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:2239	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000539941.6	protein_coding	-	5/11	ENST00000539941.6:c.381+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant,NMD_transcript_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000577210.5	nonsense_mediated_decay	-	3/5	ENST00000577210.5:c.*198+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant,NMD_transcript_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000577246.5	nonsense_mediated_decay	-	4/5	ENST00000577246.5:c.*248+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant,NMD_transcript_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000578317.5	nonsense_mediated_decay	-	5/11	ENST00000578317.5:c.*432+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000583160.5	protein_coding	-	3/3	ENST00000583160.5:c.224+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF,cds_end_NF	HGNC	HGNC:2239	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant,NMD_transcript_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000584216.5	nonsense_mediated_decay	-	4/6	ENST00000584216.5:c.*67+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000904391.1	protein_coding	-	5/10	ENST00000904391.1:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000904392.1	protein_coding	-	5/10	ENST00000904392.1:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000904393.1	protein_coding	-	5/10	ENST00000904393.1:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000904394.1	protein_coding	-	5/11	ENST00000904394.1:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000904395.1	protein_coding	-	5/11	ENST00000904395.1:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000904396.1	protein_coding	-	5/10	ENST00000904396.1:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000904397.1	protein_coding	-	5/11	ENST00000904397.1:c.405+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000938830.1	protein_coding	-	1/4	ENST00000938830.1:c.56-12780C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000938831.1	protein_coding	-	5/9	ENST00000938831.1:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000938832.1	protein_coding	-	4/10	ENST00000938832.1:c.349-2719C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000938833.1	protein_coding	-	5/9	ENST00000938833.1:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000938834.1	protein_coding	-	5/10	ENST00000938834.1:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000954594.1	protein_coding	-	5/11	ENST00000954594.1:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000954595.1	protein_coding	-	5/9	ENST00000954595.1:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	T	intron_variant	MODIFIER	COPS3	ENSG00000141030	Transcript	ENST00000954596.1	protein_coding	-	5/11	ENST00000954596.1:c.441+185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:2239	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000261646.11	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	1849	-1	-	HGNC	HGNC:11289	YES	MANE_Select	NM_004176.5	-	1	P4	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	intron_variant	MODIFIER	RAI1	ENSG00000108557	Transcript	ENST00000353383.6	protein_coding	-	5/5	ENST00000353383.6:c.5709+46G>T	-	-	-	-	-	-	rs1448147368	G	G/T	-	1	-	HGNC	HGNC:9834	YES	MANE_Select	NM_030665.4	-	1	P1	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000355815.8	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	2588	-1	-	HGNC	HGNC:11289	-	-	-	-	1	A2	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	MIR33B	ENSG00000207839	Transcript	ENST00000385104.1	miRNA	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	4351	-1	-	HGNC	HGNC:32791	YES	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000395751.8	retained_intron	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	2588	-1	-	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000395756.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	2588	-1	cds_start_NF	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000395757.6	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	1871	-1	-	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000447641.5	retained_intron	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	4859	-1	-	HGNC	HGNC:11289	-	-	-	-	3	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000478616.1	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	3425	-1	cds_start_NF	HGNC	HGNC:11289	-	-	-	-	5	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000485080.6	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	914	-1	cds_start_NF	HGNC	HGNC:11289	-	-	-	-	5	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000486311.5	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	3227	-1	cds_start_NF,cds_end_NF	HGNC	HGNC:11289	-	-	-	-	3	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000578469.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	1871	-1	cds_start_NF	HGNC	HGNC:11289	-	-	-	-	3	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000581707.1	retained_intron	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	4918	-1	-	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	intron_variant,non_coding_transcript_variant	MODIFIER	RAI1	ENSG00000108557	Transcript	ENST00000582514.1	protein_coding_CDS_not_defined	-	1/1	ENST00000582514.1:n.158+46G>T	-	-	-	-	-	-	rs1448147368	G	G/T	-	1	-	HGNC	HGNC:9834	-	-	-	-	2	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	MIR6777	ENSG00000274111	Transcript	ENST00000613934.1	miRNA	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	3995	-1	-	HGNC	HGNC:50173	YES	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000662439.1	retained_intron	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	2588	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000892469.1	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	1851	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000892472.1	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	1864	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000892473.1	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	1858	-1	-	HGNC	HGNC:11289	-	-	-	-	-	A2	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000892475.1	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	2592	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000892477.1	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	2592	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000892480.1	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	2594	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	intron_variant	MODIFIER	RAI1	ENSG00000108557	Transcript	ENST00000918590.1	protein_coding	-	4/4	ENST00000918590.1:c.5709+46G>T	-	-	-	-	-	-	rs1448147368	G	G/T	-	1	-	HGNC	HGNC:9834	-	-	-	-	-	P1	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000918821.1	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	1849	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000918822.1	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	2592	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000918823.1	protein_coding	-	-	-	-	-	-	-	-	-	rs1448147368	G	G/T	2592	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	intron_variant	MODIFIER	RAI1	ENSG00000108557	Transcript	ENST00000955422.1	protein_coding	-	5/5	ENST00000955422.1:c.5709+46G>T	-	-	-	-	-	-	rs1448147368	G	G/T	-	1	-	HGNC	HGNC:9834	-	-	-	-	-	P1	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17809485-17809485	T	intron_variant	MODIFIER	RAI1	ENSG00000108557	Transcript	ENST00000955423.1	protein_coding	-	4/4	ENST00000955423.1:c.5709+46G>T	-	-	-	-	-	-	rs1448147368	G	G/T	-	1	-	HGNC	HGNC:9834	-	-	-	-	-	P1	-	-	-	-	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	0	0	0	0	0	0	0	0.000207	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000261646.11	protein_coding	-	6/18	ENST00000261646.11:c.1184-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	YES	MANE_Select	NM_004176.5	-	1	P4	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000355815.8	protein_coding	-	7/19	ENST00000355815.8:c.1274-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	1	A2	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	upstream_gene_variant	MODIFIER	MIR33B	ENSG00000207839	Transcript	ENST00000385104.1	miRNA	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	3990	-1	-	HGNC	HGNC:32791	YES	-	-	-	-	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000395751.8	retained_intron	-	4/17	ENST00000395751.8:n.1800-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000395756.5	nonsense_mediated_decay	-	1/13	ENST00000395756.5:c.69-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000395757.6	protein_coding	-	6/18	ENST00000395757.6:c.1184-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000423161.3	protein_coding	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	1106	-1	cds_end_NF	HGNC	HGNC:11289	-	-	-	-	3	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	upstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000447641.5	retained_intron	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	1526	-1	-	HGNC	HGNC:11289	-	-	-	-	3	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000469356.3	retained_intron	-	1/5	ENST00000469356.3:n.484-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	3	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000470247.1	retained_intron	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	302	-1	-	HGNC	HGNC:11289	-	-	-	-	5	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	upstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000471445.5	retained_intron	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	171	-1	-	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000476994.1	retained_intron	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	2087	-1	-	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	upstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000478616.1	protein_coding	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	3566	-1	cds_start_NF	HGNC	HGNC:11289	-	-	-	-	5	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	upstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000485080.6	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	4152	-1	cds_start_NF	HGNC	HGNC:11289	-	-	-	-	5	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	upstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000486311.5	protein_coding	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	3545	-1	cds_start_NF,cds_end_NF	HGNC	HGNC:11289	-	-	-	-	3	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000487401.1	retained_intron	-	1/1	ENST00000487401.1:n.87-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	upstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000490796.1	retained_intron	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	1537	-1	-	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000577897.2	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	1200	-1	cds_start_NF	HGNC	HGNC:11289	-	-	-	-	4	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	upstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000578469.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	4479	-1	cds_start_NF	HGNC	HGNC:11289	-	-	-	-	3	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	upstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000580540.1	retained_intron	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	21	-1	-	HGNC	HGNC:11289	-	-	-	-	4	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	upstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000581707.1	retained_intron	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	2548	-1	-	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	non_coding_transcript_exon_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000583080.1	retained_intron	1/2	-	ENST00000583080.1:n.229C>A	-	229	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	5	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	downstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000583732.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	1151	-1	-	HGNC	HGNC:11289	-	-	-	-	4	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	upstream_gene_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000584760.1	retained_intron	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	1583	-1	-	HGNC	HGNC:11289	-	-	-	-	2	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	upstream_gene_variant	MODIFIER	MIR6777	ENSG00000274111	Transcript	ENST00000613934.1	miRNA	-	-	-	-	-	-	-	-	-	rs766587240	G	G/T	4376	-1	-	HGNC	HGNC:50173	YES	-	-	-	-	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000662439.1	retained_intron	-	4/16	ENST00000662439.1:n.887-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000892469.1	protein_coding	-	7/19	ENST00000892469.1:c.1268-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000892472.1	protein_coding	-	6/18	ENST00000892472.1:c.1178-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000892473.1	protein_coding	-	6/18	ENST00000892473.1:c.1184-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	-	A2	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000892475.1	protein_coding	-	5/17	ENST00000892475.1:c.752-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000892477.1	protein_coding	-	6/18	ENST00000892477.1:c.1166-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000892480.1	protein_coding	-	6/18	ENST00000892480.1:c.1184-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000918821.1	protein_coding	-	6/18	ENST00000918821.1:c.1157-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	splice_region_variant,splice_polypyrimidine_tract_variant,intron_variant	LOW	SREBF1	ENSG00000072310	Transcript	ENST00000918822.1	protein_coding	-	6/18	ENST00000918822.1:c.1184-5C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	T	intron_variant	MODIFIER	SREBF1	ENSG00000072310	Transcript	ENST00000918823.1	protein_coding	-	3/12	ENST00000918823.1:c.706-1380C>A	-	-	-	-	-	-	rs766587240	G	G/T	-	-1	-	HGNC	HGNC:11289	-	-	-	-	-	-	-	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18119985-18119985	T	non_coding_transcript_exon_variant	MODIFIER	MYO15A	ENSG00000091536	Transcript	ENST00000583079.1	retained_intron	1/1	-	ENST00000583079.1:n.818C>T	-	818	-	-	-	-	rs754396218,COSV52752493,COSV52753787	C	C/T	-	1	-	HGNC	HGNC:7594	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0,1,1	1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:18119985-18119985	T	synonymous_variant	LOW	MYO15A	ENSG00000091536	Transcript	ENST00000647165.2	protein_coding	2/66	-	ENST00000647165.2:c.1185C>T	ENSP00000495481.1:p.Pro395%3D	1473	1185	395	P	ccC/ccT	rs754396218,COSV52752493,COSV52753787	C	C/T	-	1	-	HGNC	HGNC:7594	YES	MANE_Select	NM_016239.4	-	-	P1	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0,1,1	1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:18119985-18119985	T	upstream_gene_variant	MODIFIER	MYO15A	ENSG00000091536	Transcript	ENST00000651088.1	protein_coding	-	-	-	-	-	-	-	-	-	rs754396218,COSV52752493,COSV52753787	C	C/T	3128	1	cds_end_NF	HGNC	HGNC:7594	-	-	-	-	-	-	-	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0,1,1	1,1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:18124653-18124683	-	non_coding_transcript_exon_variant	MODIFIER	MYO15A	ENSG00000091536	Transcript	ENST00000583079.1	retained_intron	1/1	-	ENST00000583079.1:n.5490_5519del	-	5490-5519	-	-	-	-	-	TCACCTCCCAGGACATTTTCAGAGCCTCAG	CTCACCTCCCAGGACATTTTCAGAGCCTCAG/C	-	1	-	HGNC	HGNC:7594	-	-	-	-	-	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18124653-18124683	-	intron_variant	MODIFIER	MYO15A	ENSG00000091536	Transcript	ENST00000647165.2	protein_coding	-	3/65	ENST00000647165.2:c.3692+92_3692+121del	-	-	-	-	-	-	-	TCACCTCCCAGGACATTTTCAGAGCCTCAG	CTCACCTCCCAGGACATTTTCAGAGCCTCAG/C	-	1	-	HGNC	HGNC:7594	YES	MANE_Select	NM_016239.4	-	-	P1	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18124653-18124683	-	downstream_gene_variant	MODIFIER	MYO15A	ENSG00000091536	Transcript	ENST00000651088.1	protein_coding	-	-	-	-	-	-	-	-	-	-	TCACCTCCCAGGACATTTTCAGAGCCTCAG	CTCACCTCCCAGGACATTTTCAGAGCCTCAG/C	89	1	cds_end_NF	HGNC	HGNC:7594	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18143814-18143814	A	downstream_gene_variant	MODIFIER	MYO15A	ENSG00000091536	Transcript	ENST00000412324.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs369719467	G	G/A	1677	1	-	HGNC	HGNC:7594	-	-	-	-	5	-	-	-	-	-	2.605e-05	0	2.619e-05	0	0	2.01e-05	0.0001748	2.749e-05	3.398e-05	2.46e-05	3.283e-05	2.406e-05	0	0	0	0	0	0.003401	4.411e-05	0	0	likely_benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:18143814-18143814	A	upstream_gene_variant	MODIFIER	MYO15A	ENSG00000091536	Transcript	ENST00000578999.1	retained_intron	-	-	-	-	-	-	-	-	-	rs369719467	G	G/A	2200	1	-	HGNC	HGNC:7594	-	-	-	-	5	-	-	-	-	-	2.605e-05	0	2.619e-05	0	0	2.01e-05	0.0001748	2.749e-05	3.398e-05	2.46e-05	3.283e-05	2.406e-05	0	0	0	0	0	0.003401	4.411e-05	0	0	likely_benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:18143814-18143814	A	downstream_gene_variant	MODIFIER	MYO15A	ENSG00000091536	Transcript	ENST00000646238.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs369719467	G	G/A	4203	1	-	HGNC	HGNC:7594	-	-	-	-	-	-	-	-	-	-	2.605e-05	0	2.619e-05	0	0	2.01e-05	0.0001748	2.749e-05	3.398e-05	2.46e-05	3.283e-05	2.406e-05	0	0	0	0	0	0.003401	4.411e-05	0	0	likely_benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:18143814-18143814	A	intron_variant	MODIFIER	MYO15A	ENSG00000091536	Transcript	ENST00000647165.2	protein_coding	-	27/65	ENST00000647165.2:c.6046+18G>A	-	-	-	-	-	-	rs369719467	G	G/A	-	1	-	HGNC	HGNC:7594	YES	MANE_Select	NM_016239.4	-	-	P1	-	-	-	-	2.605e-05	0	2.619e-05	0	0	2.01e-05	0.0001748	2.749e-05	3.398e-05	2.46e-05	3.283e-05	2.406e-05	0	0	0	0	0	0.003401	4.411e-05	0	0	likely_benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:18958839-18958839	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000317977.10	protein_coding	-	2/14	ENST00000317977.10:c.15+86G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:23155	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18958839-18958839	T	upstream_gene_variant	MODIFIER	-	ENSG00000196893	Transcript	ENST00000354432.3	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4690	-1	-	-	-	YES	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18958839-18958839	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000395643.6	protein_coding	-	2/13	ENST00000395643.6:c.183+86G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:23155	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18958839-18958839	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000395645.4	protein_coding	-	2/14	ENST00000395645.4:c.183+86G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:23155	YES	MANE_Select	NM_001042450.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18958839-18958839	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000395647.6	protein_coding	-	2/14	ENST00000395647.6:c.183+86G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:23155	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18958839-18958839	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000417251.6	protein_coding	-	2/13	ENST00000417251.6:c.183+86G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:23155	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18958839-18958839	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000884499.1	protein_coding	-	2/13	ENST00000884499.1:c.183+86G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:23155	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18958839-18958839	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000961493.1	protein_coding	-	2/13	ENST00000961493.1:c.183+86G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:23155	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000317977.10	protein_coding	-	8/14	ENST00000317977.10:c.733+11524C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:23155	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	intron_variant	MODIFIER	FAM83G	ENSG00000188522	Transcript	ENST00000388995.11	protein_coding	-	2/5	ENST00000388995.11:c.523-99G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:32554	YES	MANE_Select	NM_001039999.3	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000395643.6	protein_coding	-	8/13	ENST00000395643.6:c.901+11524C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:23155	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000395645.4	protein_coding	-	9/14	ENST00000395645.4:c.982+11524C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:23155	YES	MANE_Select	NM_001042450.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000395647.6	protein_coding	-	9/14	ENST00000395647.6:c.982+11524C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:23155	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	intron_variant,non_coding_transcript_variant	MODIFIER	FAM83G	ENSG00000188522	Transcript	ENST00000399096.2	retained_intron	-	1/2	ENST00000399096.2:n.262-99G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:32554	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000417251.6	protein_coding	-	9/13	ENST00000417251.6:c.982+11524C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:23155	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	upstream_gene_variant	MODIFIER	-	ENSG00000263045	Transcript	ENST00000573133.1	processed_pseudogene	-	-	-	-	-	-	-	-	-	-	C	C/T	2179	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000884499.1	protein_coding	-	8/13	ENST00000884499.1:c.901+11524C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:23155	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	intron_variant	MODIFIER	FAM83G	ENSG00000188522	Transcript	ENST00000884590.1	protein_coding	-	1/4	ENST00000884590.1:c.523-99G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:32554	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	intron_variant	MODIFIER	FAM83G	ENSG00000188522	Transcript	ENST00000921601.1	protein_coding	-	2/4	ENST00000921601.1:c.523-8840G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:32554	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	intron_variant	MODIFIER	FAM83G	ENSG00000188522	Transcript	ENST00000921602.1	protein_coding	-	2/5	ENST00000921602.1:c.523-99G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:32554	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:18988513-18988513	T	intron_variant	MODIFIER	SLC5A10	ENSG00000154025	Transcript	ENST00000961493.1	protein_coding	-	8/13	ENST00000961493.1:c.877+11524C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:23155	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000314728.10	protein_coding	-	7/10	ENST00000314728.10:c.1147+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	YES	MANE_Select	NM_014964.5	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000347697.6	protein_coding	-	6/9	ENST00000347697.6:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	5	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000395618.7	protein_coding	-	4/7	ENST00000395618.7:c.292+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000395620.6	protein_coding	-	4/7	ENST00000395620.6:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000395626.5	protein_coding	-	5/7	ENST00000395626.5:c.1147+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000395628.6	protein_coding	-	6/7	ENST00000395628.6:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:18639	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000494192.6	protein_coding	-	4/6	ENST00000494192.6:c.274+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:18639	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	downstream_gene_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000495155.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	38	1	-	HGNC	HGNC:18639	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000571254.1	protein_coding	-	4/7	ENST00000571254.1:c.955+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant,non_coding_transcript_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000572627.6	protein_coding_CDS_not_defined	-	3/5	ENST00000572627.6:n.271+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000575595.5	protein_coding	-	4/7	ENST00000575595.5:c.271+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant,NMD_transcript_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000580579.5	nonsense_mediated_decay	-	4/4	ENST00000580579.5:c.*135+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant,non_coding_transcript_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000585097.1	protein_coding_CDS_not_defined	-	1/3	ENST00000585097.1:n.109+752G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000898661.1	protein_coding	-	6/9	ENST00000898661.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000898662.1	protein_coding	-	7/10	ENST00000898662.1:c.1129+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000898663.1	protein_coding	-	7/10	ENST00000898663.1:c.958+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000898664.1	protein_coding	-	6/9	ENST00000898664.1:c.958+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000898665.1	protein_coding	-	7/10	ENST00000898665.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000898666.1	protein_coding	-	6/9	ENST00000898666.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000898667.1	protein_coding	-	6/9	ENST00000898667.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000898668.1	protein_coding	-	7/10	ENST00000898668.1:c.958+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000898669.1	protein_coding	-	7/10	ENST00000898669.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000920530.1	protein_coding	-	6/9	ENST00000920530.1:c.958+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000920531.1	protein_coding	-	6/9	ENST00000920531.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000920532.1	protein_coding	-	6/9	ENST00000920532.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000920533.1	protein_coding	-	7/10	ENST00000920533.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000920534.1	protein_coding	-	8/11	ENST00000920534.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966896.1	protein_coding	-	6/9	ENST00000966896.1:c.958+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966897.1	protein_coding	-	7/10	ENST00000966897.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966898.1	protein_coding	-	7/10	ENST00000966898.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966899.1	protein_coding	-	6/9	ENST00000966899.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966900.1	protein_coding	-	8/11	ENST00000966900.1:c.958+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966901.1	protein_coding	-	7/10	ENST00000966901.1:c.1147+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966902.1	protein_coding	-	7/9	ENST00000966902.1:c.955+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966903.1	protein_coding	-	7/10	ENST00000966903.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966904.1	protein_coding	-	6/9	ENST00000966904.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966905.1	protein_coding	-	6/9	ENST00000966905.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966906.1	protein_coding	-	6/9	ENST00000966906.1:c.958+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966907.1	protein_coding	-	6/9	ENST00000966907.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966908.1	protein_coding	-	6/9	ENST00000966908.1:c.958+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966909.1	protein_coding	-	3/6	ENST00000966909.1:c.596-14939G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19313772-19313772	T	intron_variant	MODIFIER	EPN2	ENSG00000072134	Transcript	ENST00000966910.1	protein_coding	-	6/9	ENST00000966910.1:c.976+493G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:18639	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19702683-19702683	T	splice_polypyrimidine_tract_variant,intron_variant	LOW	SLC47A2	ENSG00000180638	Transcript	ENST00000325411.9	protein_coding	-	12/16	ENST00000325411.9:c.1203-9C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19702683-19702683	T	splice_polypyrimidine_tract_variant,intron_variant	LOW	SLC47A2	ENSG00000180638	Transcript	ENST00000350657.9	protein_coding	-	13/17	ENST00000350657.9:c.1137-9C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19702683-19702683	T	splice_polypyrimidine_tract_variant,intron_variant	LOW	SLC47A2	ENSG00000180638	Transcript	ENST00000433844.4	protein_coding	-	12/16	ENST00000433844.4:c.1095-9C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	YES	MANE_Select	NM_001099646.3	-	5	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19702683-19702683	T	splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant	LOW	SLC47A2	ENSG00000180638	Transcript	ENST00000463318.5	protein_coding_CDS_not_defined	-	11/15	ENST00000463318.5:n.1765-9C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19702683-19702683	T	downstream_gene_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000467379.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2328	-1	-	HGNC	HGNC:26439	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19702683-19702683	T	splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant	LOW	SLC47A2	ENSG00000180638	Transcript	ENST00000467609.5	retained_intron	-	13/16	ENST00000467609.5:n.1148-9C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19702683-19702683	T	downstream_gene_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000574220.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	427	-1	-	HGNC	HGNC:26439	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19702683-19702683	T	splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant	LOW	SLC47A2	ENSG00000180638	Transcript	ENST00000574239.5	nonsense_mediated_decay	-	11/15	ENST00000574239.5:c.*513-9C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19702683-19702683	T	splice_polypyrimidine_tract_variant,intron_variant	LOW	SLC47A2	ENSG00000180638	Transcript	ENST00000909297.1	protein_coding	-	11/15	ENST00000909297.1:c.1089-9C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19702683-19702683	T	splice_polypyrimidine_tract_variant,intron_variant	LOW	SLC47A2	ENSG00000180638	Transcript	ENST00000909298.1	protein_coding	-	11/15	ENST00000909298.1:c.981-9C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19702683-19702683	T	splice_polypyrimidine_tract_variant,intron_variant	LOW	SLC47A2	ENSG00000180638	Transcript	ENST00000909299.1	protein_coding	-	12/16	ENST00000909299.1:c.1092-9C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19708196-19708196	T	intron_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000325411.9	protein_coding	-	7/16	ENST00000325411.9:c.737+106C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19708196-19708196	T	intron_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000350657.9	protein_coding	-	7/17	ENST00000350657.9:c.629+106C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19708196-19708196	T	intron_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000433844.4	protein_coding	-	7/16	ENST00000433844.4:c.629+106C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	YES	MANE_Select	NM_001099646.3	-	5	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19708196-19708196	T	intron_variant,non_coding_transcript_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000463318.5	protein_coding_CDS_not_defined	-	7/15	ENST00000463318.5:n.1375+106C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19708196-19708196	T	intron_variant,non_coding_transcript_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000467379.1	retained_intron	-	6/8	ENST00000467379.1:n.1833+106C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19708196-19708196	T	intron_variant,non_coding_transcript_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000467609.5	retained_intron	-	7/16	ENST00000467609.5:n.640+106C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19708196-19708196	T	intron_variant,non_coding_transcript_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000574220.5	retained_intron	-	5/9	ENST00000574220.5:n.518+106C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19708196-19708196	T	intron_variant,NMD_transcript_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000574239.5	nonsense_mediated_decay	-	7/15	ENST00000574239.5:c.*123+106C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19708196-19708196	T	intron_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000909297.1	protein_coding	-	7/15	ENST00000909297.1:c.737+106C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19708196-19708196	T	intron_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000909298.1	protein_coding	-	7/15	ENST00000909298.1:c.629+106C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:19708196-19708196	T	intron_variant	MODIFIER	SLC47A2	ENSG00000180638	Transcript	ENST00000909299.1	protein_coding	-	7/16	ENST00000909299.1:c.626+106C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26439	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000577198.6	lncRNA	3/3	-	ENST00000577198.6:n.997C>A	-	997	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000265480	Transcript	ENST00000578578.6	transcribed_processed_pseudogene	1/1	-	ENST00000578578.6:n.398C>A	-	398	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000581956.2	lncRNA	3/3	-	ENST00000581956.2:n.941C>A	-	941	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	upstream_gene_variant	MODIFIER	-	ENSG00000264029	Transcript	ENST00000583209.1	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	G	G/T	1223	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	upstream_gene_variant	MODIFIER	-	ENSG00000266306	Transcript	ENST00000584928.2	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	G	G/T	4595	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	upstream_gene_variant	MODIFIER	-	ENSG00000260777	Transcript	ENST00000703576.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1492	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	upstream_gene_variant	MODIFIER	-	ENSG00000260777	Transcript	ENST00000703577.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	980	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	upstream_gene_variant	MODIFIER	-	ENSG00000260777	Transcript	ENST00000703578.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	965	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764155.1	lncRNA	2/2	-	ENST00000764155.1:n.582C>A	-	582	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764156.1	lncRNA	3/3	-	ENST00000764156.1:n.750C>A	-	750	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764157.1	lncRNA	3/3	-	ENST00000764157.1:n.791C>A	-	791	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764158.1	lncRNA	4/4	-	ENST00000764158.1:n.996C>A	-	996	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764159.1	lncRNA	2/2	-	ENST00000764159.1:n.631C>A	-	631	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764160.1	lncRNA	2/2	-	ENST00000764160.1:n.745C>A	-	745	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764161.1	lncRNA	3/3	-	ENST00000764161.1:n.860C>A	-	860	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764162.1	lncRNA	2/2	-	ENST00000764162.1:n.746C>A	-	746	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764163.1	lncRNA	3/3	-	ENST00000764163.1:n.813C>A	-	813	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764164.1	lncRNA	3/3	-	ENST00000764164.1:n.671C>A	-	671	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764165.1	lncRNA	2/2	-	ENST00000764165.1:n.618C>A	-	618	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764166.1	lncRNA	3/3	-	ENST00000764166.1:n.727C>A	-	727	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28276939-28276939	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764167.1	lncRNA	3/3	-	ENST00000764167.1:n.891C>A	-	891	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000577198.6	lncRNA	3/3	-	ENST00000577198.6:n.929C>A	-	929	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000265480	Transcript	ENST00000578578.6	transcribed_processed_pseudogene	1/1	-	ENST00000578578.6:n.330C>A	-	330	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000581956.2	lncRNA	3/3	-	ENST00000581956.2:n.873C>A	-	873	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	upstream_gene_variant	MODIFIER	-	ENSG00000264029	Transcript	ENST00000583209.1	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	G	G/T	1291	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	upstream_gene_variant	MODIFIER	-	ENSG00000266306	Transcript	ENST00000584928.2	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	G	G/T	4663	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	upstream_gene_variant	MODIFIER	-	ENSG00000260777	Transcript	ENST00000703576.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1560	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	upstream_gene_variant	MODIFIER	-	ENSG00000260777	Transcript	ENST00000703577.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1048	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	upstream_gene_variant	MODIFIER	-	ENSG00000260777	Transcript	ENST00000703578.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1033	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764155.1	lncRNA	2/2	-	ENST00000764155.1:n.514C>A	-	514	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764156.1	lncRNA	3/3	-	ENST00000764156.1:n.682C>A	-	682	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764157.1	lncRNA	3/3	-	ENST00000764157.1:n.723C>A	-	723	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764158.1	lncRNA	4/4	-	ENST00000764158.1:n.928C>A	-	928	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764159.1	lncRNA	2/2	-	ENST00000764159.1:n.563C>A	-	563	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764160.1	lncRNA	2/2	-	ENST00000764160.1:n.677C>A	-	677	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764161.1	lncRNA	3/3	-	ENST00000764161.1:n.792C>A	-	792	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764162.1	lncRNA	2/2	-	ENST00000764162.1:n.678C>A	-	678	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764163.1	lncRNA	3/3	-	ENST00000764163.1:n.745C>A	-	745	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764164.1	lncRNA	3/3	-	ENST00000764164.1:n.603C>A	-	603	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764165.1	lncRNA	2/2	-	ENST00000764165.1:n.550C>A	-	550	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764166.1	lncRNA	3/3	-	ENST00000764166.1:n.659C>A	-	659	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28277007-28277007	T	non_coding_transcript_exon_variant	MODIFIER	KRT18P55	ENSG00000293325	Transcript	ENST00000764167.1	lncRNA	3/3	-	ENST00000764167.1:n.823C>A	-	823	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:26874	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000226218.9	protein_coding	-	7/7	ENST00000226218.9:c.1324+11C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12724	YES	MANE_Select	NM_000638.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	downstream_gene_variant	MODIFIER	VMA12	ENSG00000244045	Transcript	ENST00000292114.8	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4021	1	-	HGNC	HGNC:18085	YES	MANE_Select	NM_152464.3	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant,non_coding_transcript_variant	MODIFIER	SARM1	ENSG00000004139	Transcript	ENST00000379061.8	protein_coding_CDS_not_defined	-	2/10	ENST00000379061.8:n.170+2539G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17074	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	upstream_gene_variant	MODIFIER	SEBOX	ENSG00000274529	Transcript	ENST00000536498.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2505	-1	-	HGNC	HGNC:32942	YES	MANE_Select	NM_001080837.4	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	downstream_gene_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000539746.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	164	-1	-	HGNC	HGNC:12724	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	downstream_gene_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000542029.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1978	-1	cds_end_NF	HGNC	HGNC:12724	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	upstream_gene_variant	MODIFIER	-	ENSG00000265618	Transcript	ENST00000577850.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4845	-1	-	-	-	YES	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	upstream_gene_variant	MODIFIER	SARM1	ENSG00000004139	Transcript	ENST00000585482.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3990	1	-	HGNC	HGNC:17074	YES	MANE_Select	NM_015077.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	upstream_gene_variant	MODIFIER	SARM1	ENSG00000004139	Transcript	ENST00000886313.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3983	1	-	HGNC	HGNC:17074	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000886528.1	protein_coding	-	6/6	ENST00000886528.1:c.980-223C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12724	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000886529.1	protein_coding	-	8/8	ENST00000886529.1:c.1324+11C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12724	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000886530.1	protein_coding	-	8/8	ENST00000886530.1:c.1324+11C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12724	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000886531.1	protein_coding	-	7/7	ENST00000886531.1:c.1231+11C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12724	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000886532.1	protein_coding	-	7/7	ENST00000886532.1:c.1066+11C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12724	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000886533.1	protein_coding	-	6/6	ENST00000886533.1:c.1204+11C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12724	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000886534.1	protein_coding	-	6/6	ENST00000886534.1:c.1159+11C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12724	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000886535.1	protein_coding	-	7/7	ENST00000886535.1:c.1315+11C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12724	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000886536.1	protein_coding	-	7/7	ENST00000886536.1:c.1300+11C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12724	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000886537.1	protein_coding	-	6/6	ENST00000886537.1:c.1066+11C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12724	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	upstream_gene_variant	MODIFIER	SARM1	ENSG00000004139	Transcript	ENST00000944181.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4030	1	-	HGNC	HGNC:17074	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28367704-28367704	T	intron_variant	MODIFIER	VTN	ENSG00000109072	Transcript	ENST00000954238.1	protein_coding	-	8/8	ENST00000954238.1:c.1324+11C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12724	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	3_prime_UTR_variant	MODIFIER	SLC13A2	ENSG00000007216	Transcript	ENST00000314669.10	protein_coding	12/12	-	ENST00000314669.10:c.*7G>T	-	1855	-	-	-	-	rs781890380	G	G/T	-	1	-	HGNC	HGNC:10917	YES	MANE_Select	NM_003984.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	3_prime_UTR_variant	MODIFIER	SLC13A2	ENSG00000007216	Transcript	ENST00000444914.7	protein_coding	12/12	-	ENST00000444914.7:c.*7G>T	-	2353	-	-	-	-	rs781890380	G	G/T	-	1	-	HGNC	HGNC:10917	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	SLC13A2	ENSG00000007216	Transcript	ENST00000459818.2	nonsense_mediated_decay	14/14	-	ENST00000459818.2:c.*1413G>T	-	1964	-	-	-	-	rs781890380	G	G/T	-	1	-	HGNC	HGNC:10917	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	intron_variant,NMD_transcript_variant	MODIFIER	RSKR	ENSG00000167524	Transcript	ENST00000481916.6	nonsense_mediated_decay	-	7/7	ENST00000481916.6:c.*1196-41167C>A	-	-	-	-	-	-	rs781890380	G	G/T	-	-1	-	HGNC	HGNC:26314	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	downstream_gene_variant	MODIFIER	SLC13A2	ENSG00000007216	Transcript	ENST00000541739.6	retained_intron	-	-	-	-	-	-	-	-	-	rs781890380	G	G/T	3200	1	-	HGNC	HGNC:10917	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	non_coding_transcript_exon_variant	MODIFIER	SLC13A2	ENSG00000007216	Transcript	ENST00000577903.5	retained_intron	12/12	-	ENST00000577903.5:n.2175G>T	-	2175	-	-	-	-	rs781890380	G	G/T	-	1	-	HGNC	HGNC:10917	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	3_prime_UTR_variant	MODIFIER	SLC13A2	ENSG00000007216	Transcript	ENST00000579281.5	protein_coding	13/13	-	ENST00000579281.5:c.*7G>T	-	1902	-	-	-	-	rs781890380	G	G/T	-	1	-	HGNC	HGNC:10917	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	3_prime_UTR_variant	MODIFIER	SLC13A2	ENSG00000007216	Transcript	ENST00000855215.1	protein_coding	12/12	-	ENST00000855215.1:c.*7G>T	-	2227	-	-	-	-	rs781890380	G	G/T	-	1	-	HGNC	HGNC:10917	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	3_prime_UTR_variant	MODIFIER	SLC13A2	ENSG00000007216	Transcript	ENST00000855216.1	protein_coding	11/11	-	ENST00000855216.1:c.*7G>T	-	1752	-	-	-	-	rs781890380	G	G/T	-	1	-	HGNC	HGNC:10917	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	3_prime_UTR_variant	MODIFIER	SLC13A2	ENSG00000007216	Transcript	ENST00000855217.1	protein_coding	12/12	-	ENST00000855217.1:c.*7G>T	-	2005	-	-	-	-	rs781890380	G	G/T	-	1	-	HGNC	HGNC:10917	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	3_prime_UTR_variant	MODIFIER	SLC13A2	ENSG00000007216	Transcript	ENST00000855218.1	protein_coding	11/11	-	ENST00000855218.1:c.*7G>T	-	1726	-	-	-	-	rs781890380	G	G/T	-	1	-	HGNC	HGNC:10917	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	3_prime_UTR_variant	MODIFIER	SLC13A2	ENSG00000007216	Transcript	ENST00000855219.1	protein_coding	11/11	-	ENST00000855219.1:c.*7G>T	-	1777	-	-	-	-	rs781890380	G	G/T	-	1	-	HGNC	HGNC:10917	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28497276-28497276	T	3_prime_UTR_variant	MODIFIER	SLC13A2	ENSG00000007216	Transcript	ENST00000956184.1	protein_coding	11/11	-	ENST00000956184.1:c.*7G>T	-	1840	-	-	-	-	rs781890380	G	G/T	-	1	-	HGNC	HGNC:10917	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28718299-28718299	T	5_prime_UTR_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000301043.10	protein_coding	1/11	-	ENST00000301043.10:c.-337C>A	-	117	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000353676.9	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	77	-1	cds_end_NF	HGNC	HGNC:16519	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RPL23A	ENSG00000198242	Transcript	ENST00000355731.8	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2000	1	cds_start_NF	HGNC	HGNC:10317	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RPL23A	ENSG00000198242	Transcript	ENST00000394935.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1965	1	cds_start_NF	HGNC	HGNC:10317	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RPL23A	ENSG00000198242	Transcript	ENST00000394938.8	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1945	1	-	HGNC	HGNC:10317	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000395243.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	551	-1	-	HGNC	HGNC:16519	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000395245.9	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	431	-1	-	HGNC	HGNC:16519	YES	MANE_Select	NM_031934.6	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000412625.5	protein_coding	-	1/9	ENST00000412625.5:c.-26+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:16519	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000415040.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	116	-1	-	HGNC	HGNC:16519	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000419712.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	132	-1	cds_end_NF	HGNC	HGNC:16519	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000422279.6	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	906	-1	-	HGNC	HGNC:16519	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RPL23A	ENSG00000198242	Transcript	ENST00000422514.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1686	1	-	HGNC	HGNC:10317	YES	MANE_Select	NM_000984.6	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	5_prime_UTR_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000430132.6	protein_coding	1/9	-	ENST00000430132.6:c.-32C>A	-	107	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:16519	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000436730.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	138	-1	-	HGNC	HGNC:16519	-	-	-	-	3	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000450529.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	133	-1	-	HGNC	HGNC:16519	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000453384.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	31	-1	-	HGNC	HGNC:16519	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	SNORD42B	ENSG00000238423	Transcript	ENST00000458893.1	snoRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	2251	1	-	HGNC	HGNC:10181	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	SNORD4A	ENSG00000238578	Transcript	ENST00000459174.1	snoRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4283	1	-	HGNC	HGNC:10097	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RPL23A	ENSG00000198242	Transcript	ENST00000472628.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2270	1	-	HGNC	HGNC:10317	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000474704.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2581	-1	-	HGNC	HGNC:16519	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000481501.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1926	-1	-	HGNC	HGNC:16519	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000482688.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	132	-1	-	HGNC	HGNC:16519	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000483554.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	592	-1	-	HGNC	HGNC:16519	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000484161.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2814	-1	-	HGNC	HGNC:16519	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RPL23A	ENSG00000198242	Transcript	ENST00000496182.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1780	1	-	HGNC	HGNC:10317	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000496866.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2781	-1	-	HGNC	HGNC:16519	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RPL23A	ENSG00000198242	Transcript	ENST00000578181.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2406	1	cds_start_NF	HGNC	HGNC:10317	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000580843.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	132	-1	cds_end_NF	HGNC	HGNC:16519	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	downstream_gene_variant	MODIFIER	-	ENSG00000264577	Transcript	ENST00000582718.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3188	-1	-	-	-	YES	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RPL23A	ENSG00000198242	Transcript	ENST00000582736.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1692	1	-	HGNC	HGNC:10317	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000582934.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	132	-1	cds_end_NF	HGNC	HGNC:16519	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000583538.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	132	-1	cds_start_NF,cds_end_NF	HGNC	HGNC:16519	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000625712.2	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	133	-1	-	HGNC	HGNC:16519	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000636154.2	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	591	-1	-	HGNC	HGNC:16519	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000636513.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	591	-1	-	HGNC	HGNC:16519	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000636534.2	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	31	-1	-	HGNC	HGNC:16519	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000636772.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	449	-1	-	HGNC	HGNC:16519	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000295132	Transcript	ENST00000728189.1	lncRNA	-	1/1	ENST00000728189.1:n.246+41G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892087.1	protein_coding	-	2/11	ENST00000892087.1:c.-160+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892088.1	protein_coding	-	1/10	ENST00000892088.1:c.-328+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892089.1	protein_coding	-	1/10	ENST00000892089.1:c.-160+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892090.1	protein_coding	-	1/10	ENST00000892090.1:c.-160+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892091.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	58	-1	-	HGNC	HGNC:16519	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892092.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	103	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892093.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	104	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892094.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	116	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892095.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	116	-1	-	HGNC	HGNC:16519	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892096.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	116	-1	-	HGNC	HGNC:16519	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892097.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	123	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892098.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	129	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892099.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	129	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892100.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	132	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000892101.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	431	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924443.1	protein_coding	-	1/10	ENST00000924443.1:c.-26+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924444.1	protein_coding	-	1/10	ENST00000924444.1:c.-160+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924445.1	protein_coding	-	1/9	ENST00000924445.1:c.-26+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924446.1	protein_coding	-	1/10	ENST00000924446.1:c.-26+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924447.1	protein_coding	-	1/9	ENST00000924447.1:c.-160+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924448.1	protein_coding	-	1/10	ENST00000924448.1:c.-133+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924450.1	protein_coding	-	1/10	ENST00000924450.1:c.-26+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924451.1	protein_coding	-	1/8	ENST00000924451.1:c.-26+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924452.1	protein_coding	-	1/10	ENST00000924452.1:c.-355+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924453.1	protein_coding	-	1/10	ENST00000924453.1:c.-328+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924454.1	protein_coding	-	1/10	ENST00000924454.1:c.-133+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924455.1	protein_coding	-	1/9	ENST00000924455.1:c.-382+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924456.1	protein_coding	-	1/10	ENST00000924456.1:c.-382+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924457.1	protein_coding	-	1/9	ENST00000924457.1:c.-26+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	intron_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924458.1	protein_coding	-	1/10	ENST00000924458.1:c.-26+71C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924459.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	89	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924460.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	100	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000924461.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	116	-1	-	HGNC	HGNC:16519	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RPL23A	ENSG00000198242	Transcript	ENST00000940449.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1684	1	-	HGNC	HGNC:10317	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RPL23A	ENSG00000198242	Transcript	ENST00000940450.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1692	1	-	HGNC	HGNC:10317	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000959029.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	398	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000959030.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	92	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000959031.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	101	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000959032.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	105	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000959033.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	116	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000959034.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	116	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000959035.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	115	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000959036.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	123	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000959037.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	132	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000959038.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	146	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000959039.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	440	-1	-	HGNC	HGNC:16519	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28718299-28718299	T	regulatory_region_variant	MODIFIER	-	-	RegulatoryFeature	ENSR17_B7NTT	promoter	-	-	-	-	-	-	-	-	-	-	G	G/T	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:28717869-28718868	promoter_window	ENSG00000109113_promoter_window	ENSG00000109113.20
.	17:28881988-28881988	T	missense_variant	MODERATE	FLOT2	ENSG00000132589	Transcript	ENST00000394906.6	protein_coding	10/13	-	ENST00000394906.6:c.905G>A	ENSP00000378366.2:p.Arg302His	983	905	302	R/H	cGt/cAt	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	5	-	-	deleterious_low_confidence(0.01)	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	missense_variant	MODERATE	FLOT2	ENSG00000132589	Transcript	ENST00000394908.9	protein_coding	8/11	-	ENST00000394908.9:c.740G>A	ENSP00000378368.3:p.Arg247His	899	740	247	R/H	cGt/cAt	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	YES	MANE_Select	NM_004475.3	-	1	P3	-	deleterious_low_confidence(0)	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	likely_benign	0.1483	-	-	-	-
.	17:28881988-28881988	T	missense_variant	MODERATE	FLOT2	ENSG00000132589	Transcript	ENST00000465427.3	protein_coding	6/7	-	ENST00000465427.3:c.542G>A	ENSP00000465819.1:p.Arg181His	540	542	181	R/H	cGt/cAt	rs377676259,COSV104430469	C	C/T	-	-1	cds_start_NF,cds_end_NF	HGNC	HGNC:3758	-	-	-	-	5	-	-	deleterious_low_confidence(0)	benign(0.039)	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	non_coding_transcript_exon_variant	MODIFIER	FLOT2	ENSG00000132589	Transcript	ENST00000577789.5	protein_coding_CDS_not_defined	7/10	-	ENST00000577789.5:n.736G>A	-	736	-	-	-	-	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	5	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	downstream_gene_variant	MODIFIER	FLOT2	ENSG00000132589	Transcript	ENST00000580313.5	retained_intron	-	-	-	-	-	-	-	-	-	rs377676259,COSV104430469	C	C/T	645	-1	-	HGNC	HGNC:3758	-	-	-	-	3	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	FLOT2	ENSG00000132589	Transcript	ENST00000580805.5	nonsense_mediated_decay	9/12	-	ENST00000580805.5:c.*474G>A	-	910	-	-	-	-	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	5	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	downstream_gene_variant	MODIFIER	FLOT2	ENSG00000132589	Transcript	ENST00000581509.1	retained_intron	-	-	-	-	-	-	-	-	-	rs377676259,COSV104430469	C	C/T	991	-1	-	HGNC	HGNC:3758	-	-	-	-	2	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	downstream_gene_variant	MODIFIER	FLOT2	ENSG00000132589	Transcript	ENST00000582174.5	retained_intron	-	-	-	-	-	-	-	-	-	rs377676259,COSV104430469	C	C/T	752	-1	-	HGNC	HGNC:3758	-	-	-	-	3	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	intron_variant,non_coding_transcript_variant	MODIFIER	FLOT2	ENSG00000132589	Transcript	ENST00000584569.1	protein_coding_CDS_not_defined	-	1/1	ENST00000584569.1:n.87+585G>A	-	-	-	-	-	-	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	3	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	missense_variant	MODERATE	FLOT2	ENSG00000132589	Transcript	ENST00000585169.6	protein_coding	8/11	-	ENST00000585169.6:c.740G>A	ENSP00000463503.1:p.Arg247His	899	740	247	R/H	cGt/cAt	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	5	A1	-	deleterious_low_confidence(0)	benign(0.015)	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	likely_benign	0.1483	-	-	-	-
.	17:28881988-28881988	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	FLOT2	ENSG00000132589	Transcript	ENST00000586827.6	nonsense_mediated_decay	6/9	-	ENST00000586827.6:c.*318G>A	-	539	-	-	-	-	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	5	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	non_coding_transcript_exon_variant	MODIFIER	FLOT2	ENSG00000132589	Transcript	ENST00000593158.1	retained_intron	5/5	-	ENST00000593158.1:n.539G>A	-	539	-	-	-	-	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	5	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	missense_variant	MODERATE	FLOT2	ENSG00000132589	Transcript	ENST00000856824.1	protein_coding	8/11	-	ENST00000856824.1:c.671G>A	ENSP00000526883.1:p.Arg224His	836	671	224	R/H	cGt/cAt	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	-	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	missense_variant	MODERATE	FLOT2	ENSG00000132589	Transcript	ENST00000856825.1	protein_coding	8/11	-	ENST00000856825.1:c.740G>A	ENSP00000526884.1:p.Arg247His	874	740	247	R/H	cGt/cAt	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	-	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	likely_benign	0.1483	-	-	-	-
.	17:28881988-28881988	T	missense_variant	MODERATE	FLOT2	ENSG00000132589	Transcript	ENST00000912298.1	protein_coding	8/11	-	ENST00000912298.1:c.899G>A	ENSP00000582357.1:p.Arg300His	1027	899	300	R/H	cGt/cAt	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	-	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	missense_variant	MODERATE	FLOT2	ENSG00000132589	Transcript	ENST00000912299.1	protein_coding	8/11	-	ENST00000912299.1:c.671G>A	ENSP00000582358.1:p.Arg224His	769	671	224	R/H	cGt/cAt	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	-	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	missense_variant	MODERATE	FLOT2	ENSG00000132589	Transcript	ENST00000912300.1	protein_coding	8/11	-	ENST00000912300.1:c.896G>A	ENSP00000582359.1:p.Arg299His	991	896	299	R/H	cGt/cAt	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	-	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	missense_variant	MODERATE	FLOT2	ENSG00000132589	Transcript	ENST00000946599.1	protein_coding	8/11	-	ENST00000946599.1:c.827G>A	ENSP00000616658.1:p.Arg276His	947	827	276	R/H	cGt/cAt	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	-	-	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28881988-28881988	T	missense_variant	MODERATE	FLOT2	ENSG00000132589	Transcript	ENST00000946600.1	protein_coding	8/11	-	ENST00000946600.1:c.728G>A	ENSP00000616659.1:p.Arg243His	843	728	243	R/H	cGt/cAt	rs377676259,COSV104430469	C	C/T	-	-1	-	HGNC	HGNC:3758	-	-	-	-	-	A1	-	-	-	-	6.02e-05	2.987e-05	6.708e-05	0	0	0	0.0005201	5.575e-05	0.0001159	0.0001391	3.942e-05	4.825e-05	0	0	0	0	0	0	4.409e-05	0.0004785	0	uncertain_significance	0,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:28981785-28981785	T	missense_variant	MODERATE	SEZ6	ENSG00000063015	Transcript	ENST00000317338.17	protein_coding	2/17	-	ENST00000317338.17:c.310C>A	ENSP00000312942.11:p.Pro104Thr	474	310	104	P/T	Cca/Aca	-	G	G/T	-	-1	-	HGNC	HGNC:15955	YES	MANE_Select	NM_178860.5	-	1	A2	-	tolerated(0.07)	benign(0.076)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.07	-	-	-	-
.	17:28981785-28981785	T	missense_variant	MODERATE	SEZ6	ENSG00000063015	Transcript	ENST00000360295.13	protein_coding	2/17	-	ENST00000360295.13:c.310C>A	ENSP00000353440.9:p.Pro104Thr	586	310	104	P/T	Cca/Aca	-	G	G/T	-	-1	-	HGNC	HGNC:15955	-	-	-	-	5	P4	-	tolerated(0.07)	benign(0.159)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.07	-	-	-	-
.	17:28981785-28981785	T	missense_variant	MODERATE	SEZ6	ENSG00000063015	Transcript	ENST00000442608.7	protein_coding	2/16	-	ENST00000442608.7:c.310C>A	ENSP00000403784.3:p.Pro104Thr	354	310	104	P/T	Cca/Aca	-	G	G/T	-	-1	-	HGNC	HGNC:15955	-	-	-	-	5	-	-	tolerated(0.07)	benign(0.056)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.07	-	-	-	-
.	17:28981785-28981785	T	upstream_gene_variant	MODIFIER	SEZ6	ENSG00000063015	Transcript	ENST00000540419.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	193	-1	cds_start_NF	HGNC	HGNC:15955	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28981785-28981785	T	missense_variant	MODERATE	SEZ6	ENSG00000063015	Transcript	ENST00000540632.6	protein_coding	1/16	-	ENST00000540632.6:c.88C>A	ENSP00000437650.2:p.Pro30Thr	88	88	30	P/T	Cca/Aca	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:15955	-	-	-	-	1	-	-	deleterious_low_confidence(0.01)	benign(0.159)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28981785-28981785	T	intron_variant,non_coding_transcript_variant	MODIFIER	PIPOX	ENSG00000179761	Transcript	ENST00000577182.5	protein_coding_CDS_not_defined	-	2/4	ENST00000577182.5:n.83+28377G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17804	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28981785-28981785	T	intron_variant,non_coding_transcript_variant	MODIFIER	PIPOX	ENSG00000179761	Transcript	ENST00000578748.6	protein_coding_CDS_not_defined	-	2/2	ENST00000578748.6:n.641+28377G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17804	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28981785-28981785	T	intron_variant,non_coding_transcript_variant	MODIFIER	PIPOX	ENSG00000179761	Transcript	ENST00000580241.5	protein_coding_CDS_not_defined	-	2/9	ENST00000580241.5:n.227+28377G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17804	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28981785-28981785	T	intron_variant,non_coding_transcript_variant	MODIFIER	PIPOX	ENSG00000179761	Transcript	ENST00000580383.5	protein_coding_CDS_not_defined	-	1/4	ENST00000580383.5:n.75+31091G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17804	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28981785-28981785	T	intron_variant,non_coding_transcript_variant	MODIFIER	PIPOX	ENSG00000179761	Transcript	ENST00000583215.5	protein_coding_CDS_not_defined	-	2/10	ENST00000583215.5:n.97+28377G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17804	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:28981785-28981785	T	5_prime_UTR_variant	MODIFIER	SEZ6	ENSG00000063015	Transcript	ENST00000585644.1	protein_coding	2/2	-	ENST00000585644.1:c.-66C>A	-	340	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:15955	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000527372.7	protein_coding	-	25/41	ENST00000527372.7:c.3990+82G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:31104	YES	MANE_Select	NM_078471.4	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	intron_variant,NMD_transcript_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000530254.6	nonsense_mediated_decay	-	25/40	ENST00000530254.6:c.*3018+82G>A	-	-	-	-	-	-	-	C	C/T	-	-1	cds_start_NF	HGNC	HGNC:31104	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	upstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000530557.2	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/T	143	-1	-	HGNC	HGNC:31104	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000531253.5	protein_coding	-	25/40	ENST00000531253.5:c.3990+82G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	5	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000532143.2	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/T	348	-1	-	HGNC	HGNC:31104	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000533112.5	protein_coding	-	25/39	ENST00000533112.5:c.3990+82G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	upstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000533652.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/T	670	-1	-	HGNC	HGNC:31104	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000704659.1	protein_coding	-	26/41	ENST00000704659.1:c.4026+82G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927983.1	protein_coding	-	24/40	ENST00000927983.1:c.3978+82G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927984.1	protein_coding	-	25/41	ENST00000927984.1:c.3999+82G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927985.1	protein_coding	-	24/39	ENST00000927985.1:c.3978+82G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927986.1	protein_coding	-	24/40	ENST00000927986.1:c.3978+82G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000954232.1	protein_coding	-	26/42	ENST00000954232.1:c.4011+82G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000954233.1	protein_coding	-	26/42	ENST00000954233.1:c.4011+82G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29098023-29098023	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000954234.1	protein_coding	-	25/40	ENST00000954234.1:c.3990+82G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000527372.7	protein_coding	-	7/41	ENST00000527372.7:c.1728+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	YES	MANE_Select	NM_078471.4	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000528322.6	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1081	-1	-	HGNC	HGNC:31104	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000528564.2	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	644	-1	cds_end_NF	HGNC	HGNC:31104	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant,NMD_transcript_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000530254.6	nonsense_mediated_decay	-	7/40	ENST00000530254.6:c.*756+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:31104	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000531253.5	protein_coding	-	7/40	ENST00000531253.5:c.1728+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	5	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000531267.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	1387	-1	-	HGNC	HGNC:31104	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000533112.5	protein_coding	-	7/39	ENST00000533112.5:c.1728+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000533420.3	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1459	-1	cds_end_NF	HGNC	HGNC:31104	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000585573.6	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	1385	-1	-	HGNC	HGNC:31104	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant,NMD_transcript_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000588791.1	nonsense_mediated_decay	-	1/5	ENST00000588791.1:c.60+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:31104	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000590242.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	564	-1	-	HGNC	HGNC:31104	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000704659.1	protein_coding	-	8/41	ENST00000704659.1:c.1764+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927983.1	protein_coding	-	7/40	ENST00000927983.1:c.1728+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927984.1	protein_coding	-	7/41	ENST00000927984.1:c.1728+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927985.1	protein_coding	-	7/39	ENST00000927985.1:c.1728+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927986.1	protein_coding	-	7/40	ENST00000927986.1:c.1728+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000954232.1	protein_coding	-	7/42	ENST00000954232.1:c.1728+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000954233.1	protein_coding	-	7/42	ENST00000954233.1:c.1728+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120466-29120466	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000954234.1	protein_coding	-	7/40	ENST00000954234.1:c.1728+150C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000527372.7	protein_coding	-	6/41	ENST00000527372.7:c.1585+68C>G	-	-	-	-	-	-	rs1457537621	G	G/C	-	-1	-	HGNC	HGNC:31104	YES	MANE_Select	NM_078471.4	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000528322.6	retained_intron	-	-	-	-	-	-	-	-	-	rs1457537621	G	G/C	617	-1	-	HGNC	HGNC:31104	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000528564.2	protein_coding	-	-	-	-	-	-	-	-	-	rs1457537621	G	G/C	180	-1	cds_end_NF	HGNC	HGNC:31104	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	intron_variant,NMD_transcript_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000530254.6	nonsense_mediated_decay	-	6/40	ENST00000530254.6:c.*613+68C>G	-	-	-	-	-	-	rs1457537621	G	G/C	-	-1	cds_start_NF	HGNC	HGNC:31104	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000531253.5	protein_coding	-	6/40	ENST00000531253.5:c.1585+68C>G	-	-	-	-	-	-	rs1457537621	G	G/C	-	-1	-	HGNC	HGNC:31104	-	-	-	-	5	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000531267.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs1457537621	G	G/C	923	-1	-	HGNC	HGNC:31104	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000533112.5	protein_coding	-	6/39	ENST00000533112.5:c.1585+68C>G	-	-	-	-	-	-	rs1457537621	G	G/C	-	-1	-	HGNC	HGNC:31104	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000533420.3	protein_coding	-	-	-	-	-	-	-	-	-	rs1457537621	G	G/C	995	-1	cds_end_NF	HGNC	HGNC:31104	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000585573.6	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs1457537621	G	G/C	921	-1	-	HGNC	HGNC:31104	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	upstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000588791.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	rs1457537621	G	G/C	255	-1	cds_start_NF	HGNC	HGNC:31104	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	downstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000590242.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs1457537621	G	G/C	100	-1	-	HGNC	HGNC:31104	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000704659.1	protein_coding	-	7/41	ENST00000704659.1:c.1621+68C>G	-	-	-	-	-	-	rs1457537621	G	G/C	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927983.1	protein_coding	-	6/40	ENST00000927983.1:c.1585+68C>G	-	-	-	-	-	-	rs1457537621	G	G/C	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927984.1	protein_coding	-	6/41	ENST00000927984.1:c.1585+68C>G	-	-	-	-	-	-	rs1457537621	G	G/C	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927985.1	protein_coding	-	6/39	ENST00000927985.1:c.1585+68C>G	-	-	-	-	-	-	rs1457537621	G	G/C	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927986.1	protein_coding	-	6/40	ENST00000927986.1:c.1585+68C>G	-	-	-	-	-	-	rs1457537621	G	G/C	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000954232.1	protein_coding	-	6/42	ENST00000954232.1:c.1585+68C>G	-	-	-	-	-	-	rs1457537621	G	G/C	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000954233.1	protein_coding	-	6/42	ENST00000954233.1:c.1585+68C>G	-	-	-	-	-	-	rs1457537621	G	G/C	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29120930-29120930	C	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000954234.1	protein_coding	-	6/40	ENST00000954234.1:c.1585+68C>G	-	-	-	-	-	-	rs1457537621	G	G/C	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000527372.7	protein_coding	-	2/41	ENST00000527372.7:c.1000-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	YES	MANE_Select	NM_078471.4	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000528322.6	retained_intron	-	1/2	ENST00000528322.6:n.51-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000528564.2	protein_coding	-	2/5	ENST00000528564.2:c.43-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:31104	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant,NMD_transcript_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000530254.6	nonsense_mediated_decay	-	2/40	ENST00000530254.6:c.*28-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:31104	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000531253.5	protein_coding	-	2/40	ENST00000531253.5:c.1000-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	5	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000531267.5	protein_coding_CDS_not_defined	-	1/2	ENST00000531267.5:n.142-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000533112.5	protein_coding	-	2/39	ENST00000533112.5:c.1000-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000533420.3	protein_coding	-	6/7	ENST00000533420.3:c.901-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:31104	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000585573.6	protein_coding_CDS_not_defined	-	1/2	ENST00000585573.6:n.125-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	upstream_gene_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000588791.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	1704	-1	cds_start_NF	HGNC	HGNC:31104	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant,non_coding_transcript_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000590242.5	protein_coding_CDS_not_defined	-	1/4	ENST00000590242.5:n.84-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000704659.1	protein_coding	-	3/41	ENST00000704659.1:c.1036-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927983.1	protein_coding	-	2/40	ENST00000927983.1:c.1000-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927984.1	protein_coding	-	2/41	ENST00000927984.1:c.1000-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927985.1	protein_coding	-	2/39	ENST00000927985.1:c.1000-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000927986.1	protein_coding	-	2/40	ENST00000927986.1:c.1000-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000954232.1	protein_coding	-	2/42	ENST00000954232.1:c.1000-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000954233.1	protein_coding	-	2/42	ENST00000954233.1:c.1000-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29122379-29122379	T	intron_variant	MODIFIER	MYO18A	ENSG00000196535	Transcript	ENST00000954234.1	protein_coding	-	2/40	ENST00000954234.1:c.1000-126C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31104	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29253593-29253593	T	intron_variant	MODIFIER	CRYBA1	ENSG00000108255	Transcript	ENST00000225387.8	protein_coding	-	4/5	ENST00000225387.8:c.358-47G>T	-	-	-	-	-	-	rs764584937	G	G/T	-	1	-	HGNC	HGNC:2394	YES	MANE_Select	NM_005208.5	-	1	P1	-	-	-	-	4.582e-06	0	0	0	0	0	0	6.137e-06	0	0	1.972e-05	0	0	0	0	0	0	0	4.409e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29253593-29253593	T	downstream_gene_variant	MODIFIER	NUFIP2	ENSG00000108256	Transcript	ENST00000225388.9	protein_coding	-	-	-	-	-	-	-	-	-	rs764584937	G	G/T	2246	-1	-	HGNC	HGNC:17634	YES	MANE_Select	NM_020772.3	-	1	P1	-	-	-	-	4.582e-06	0	0	0	0	0	0	6.137e-06	0	0	1.972e-05	0	0	0	0	0	0	0	4.409e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29253593-29253593	T	intron_variant,NMD_transcript_variant	MODIFIER	CRYBA1	ENSG00000108255	Transcript	ENST00000484605.1	nonsense_mediated_decay	-	3/4	ENST00000484605.1:c.206-47G>T	-	-	-	-	-	-	rs764584937	G	G/T	-	1	cds_start_NF	HGNC	HGNC:2394	-	-	-	-	5	-	-	-	-	-	4.582e-06	0	0	0	0	0	0	6.137e-06	0	0	1.972e-05	0	0	0	0	0	0	0	4.409e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:29286060-29286060	G	missense_variant	MODERATE	NUFIP2	ENSG00000108256	Transcript	ENST00000225388.9	protein_coding	2/4	-	ENST00000225388.9:c.1934G>C	ENSP00000225388.3:p.Arg645Thr	2023	1934	645	R/T	aGa/aCa	COSV56603056	C	C/G	-	-1	-	HGNC	HGNC:17634	YES	MANE_Select	NM_020772.3	-	1	P1	-	deleterious(0.03)	benign(0.412)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1885	-	-	-	-
.	17:29286060-29286060	G	intron_variant	MODIFIER	NUFIP2	ENSG00000108256	Transcript	ENST00000579665.1	protein_coding	-	1/2	ENST00000579665.1:c.277+7723G>C	-	-	-	-	-	-	COSV56603056	C	C/G	-	-1	-	HGNC	HGNC:17634	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:29286060-29286060	G	missense_variant	MODERATE	NUFIP2	ENSG00000108256	Transcript	ENST00000934592.1	protein_coding	2/3	-	ENST00000934592.1:c.1934G>C	ENSP00000604651.1:p.Arg645Thr	1990	1934	645	R/T	aGa/aCa	COSV56603056	C	C/G	-	-1	-	HGNC	HGNC:17634	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1885	-	-	-	-
.	17:29286060-29286060	G	intron_variant	MODIFIER	NUFIP2	ENSG00000108256	Transcript	ENST00000934593.1	protein_coding	-	2/3	ENST00000934593.1:c.1828+106G>C	-	-	-	-	-	-	COSV56603056	C	C/G	-	-1	-	HGNC	HGNC:17634	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	stop_gained	HIGH	NSRP1	ENSG00000126653	Transcript	ENST00000247026.10	protein_coding	4/7	-	ENST00000247026.10:c.181G>T	ENSP00000247026.5:p.Glu61Ter	209	181	61	E/*	Gaa/Taa	-	G	G/T	-	1	-	HGNC	HGNC:25305	YES	MANE_Select	NM_032141.4	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	NSRP1	ENSG00000126653	Transcript	ENST00000394826.8	nonsense_mediated_decay	4/7	-	ENST00000394826.8:c.*57G>T	-	234	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25305	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	NSRP1	ENSG00000126653	Transcript	ENST00000475652.5	nonsense_mediated_decay	5/8	-	ENST00000475652.5:c.*86G>T	-	227	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25305	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	non_coding_transcript_exon_variant	MODIFIER	NSRP1	ENSG00000126653	Transcript	ENST00000540900.7	protein_coding_CDS_not_defined	4/7	-	ENST00000540900.7:n.388G>T	-	388	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25305	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	non_coding_transcript_exon_variant	MODIFIER	NSRP1	ENSG00000126653	Transcript	ENST00000577289.6	protein_coding_CDS_not_defined	4/6	-	ENST00000577289.6:n.208G>T	-	208	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25305	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	stop_gained	HIGH	NSRP1	ENSG00000126653	Transcript	ENST00000580103.6	protein_coding	4/7	-	ENST00000580103.6:c.19G>T	ENSP00000468327.1:p.Glu7Ter	322	19	7	E/*	Gaa/Taa	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:25305	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	non_coding_transcript_exon_variant	MODIFIER	NSRP1	ENSG00000126653	Transcript	ENST00000581048.5	protein_coding_CDS_not_defined	4/5	-	ENST00000581048.5:n.325G>T	-	325	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25305	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	NSRP1	ENSG00000126653	Transcript	ENST00000584154.5	nonsense_mediated_decay	5/6	-	ENST00000584154.5:c.*164G>T	-	318	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25305	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	NSRP1	ENSG00000126653	Transcript	ENST00000584317.5	nonsense_mediated_decay	6/7	-	ENST00000584317.5:c.*175G>T	-	414	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25305	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	stop_gained	HIGH	NSRP1	ENSG00000126653	Transcript	ENST00000585881.5	protein_coding	3/4	-	ENST00000585881.5:c.19G>T	ENSP00000465442.1:p.Glu7Ter	408	19	7	E/*	Gaa/Taa	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:25305	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	stop_gained	HIGH	NSRP1	ENSG00000126653	Transcript	ENST00000588614.1	protein_coding	3/4	-	ENST00000588614.1:c.19G>T	ENSP00000466463.1:p.Glu7Ter	203	19	7	E/*	Gaa/Taa	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:25305	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	NSRP1	ENSG00000126653	Transcript	ENST00000589608.1	nonsense_mediated_decay	4/4	-	ENST00000589608.1:c.*79G>T	-	284	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:25305	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	stop_gained	HIGH	NSRP1	ENSG00000126653	Transcript	ENST00000612959.4	protein_coding	3/6	-	ENST00000612959.4:c.19G>T	ENSP00000477862.1:p.Glu7Ter	124	19	7	E/*	Gaa/Taa	-	G	G/T	-	1	-	HGNC	HGNC:25305	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	stop_gained	HIGH	NSRP1	ENSG00000126653	Transcript	ENST00000870657.1	protein_coding	3/6	-	ENST00000870657.1:c.124G>T	ENSP00000540716.1:p.Glu42Ter	152	124	42	E/*	Gaa/Taa	-	G	G/T	-	1	-	HGNC	HGNC:25305	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30178080-30178080	T	stop_gained	HIGH	NSRP1	ENSG00000126653	Transcript	ENST00000930609.1	protein_coding	4/7	-	ENST00000930609.1:c.181G>T	ENSP00000600668.1:p.Glu61Ter	212	181	61	E/*	Gaa/Taa	-	G	G/T	-	1	-	HGNC	HGNC:25305	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30333986-30333986	T	intron_variant	MODIFIER	TMIGD1	ENSG00000182271	Transcript	ENST00000328886.5	protein_coding	-	1/6	ENST00000328886.5:c.-26+14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:32431	YES	MANE_Select	NM_206832.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30333986-30333986	T	intron_variant	MODIFIER	TMIGD1	ENSG00000182271	Transcript	ENST00000538566.6	protein_coding	-	1/5	ENST00000538566.6:c.-26+14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:32431	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30333986-30333986	T	intron_variant	MODIFIER	TMIGD1	ENSG00000182271	Transcript	ENST00000854986.1	protein_coding	-	1/6	ENST00000854986.1:c.-23+14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:32431	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30333986-30333986	T	intron_variant	MODIFIER	TMIGD1	ENSG00000182271	Transcript	ENST00000956357.1	protein_coding	-	1/6	ENST00000956357.1:c.-23+14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:32431	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000330889.8	protein_coding	-	9/10	ENST00000330889.8:c.882+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	YES	MANE_Select	NM_018404.3	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	downstream_gene_variant	MODIFIER	-	ENSG00000230113	Transcript	ENST00000442757.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1562	-1	-	-	-	YES	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant,non_coding_transcript_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000470962.2	retained_intron	-	1/2	ENST00000470962.2:n.302+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant,non_coding_transcript_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000480980.1	retained_intron	-	1/1	ENST00000480980.1:n.316+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	upstream_gene_variant	MODIFIER	RN7SL138P	ENSG00000266274	Transcript	ENST00000577405.2	misc_RNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4846	1	-	HGNC	HGNC:46154	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000580525.6	protein_coding	-	9/10	ENST00000580525.6:c.900+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000581285.5	protein_coding	-	8/8	ENST00000581285.5:c.798+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:16487	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000584828.5	protein_coding	-	4/5	ENST00000584828.5:c.251+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:16487	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000584989.1	protein_coding	-	3/3	ENST00000584989.1:c.174+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF,cds_end_NF	HGNC	HGNC:16487	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant,NMD_transcript_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000585130.5	nonsense_mediated_decay	-	8/9	ENST00000585130.5:c.*481+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000890566.1	protein_coding	-	9/10	ENST00000890566.1:c.879+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000890567.1	protein_coding	-	8/9	ENST00000890567.1:c.816+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000890568.1	protein_coding	-	9/10	ENST00000890568.1:c.897+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000890569.1	protein_coding	-	8/9	ENST00000890569.1:c.732+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000890570.1	protein_coding	-	10/11	ENST00000890570.1:c.945+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000890571.1	protein_coding	-	7/8	ENST00000890571.1:c.742-1523G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000890572.1	protein_coding	-	8/9	ENST00000890572.1:c.822+1368G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000968788.1	protein_coding	-	8/9	ENST00000968788.1:c.735+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000968789.1	protein_coding	-	8/9	ENST00000968789.1:c.804+1368G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000968790.1	protein_coding	-	9/10	ENST00000968790.1:c.879+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000968791.1	protein_coding	-	8/9	ENST00000968791.1:c.753+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000968792.1	protein_coding	-	7/8	ENST00000968792.1:c.735+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000968793.1	protein_coding	-	9/10	ENST00000968793.1:c.897+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:30954718-30954718	T	intron_variant	MODIFIER	ADAP2	ENSG00000184060	Transcript	ENST00000968794.1	protein_coding	-	6/7	ENST00000968794.1:c.597+163G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16487	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31200763-31200763	T	intron_variant	MODIFIER	NF1	ENSG00000196712	Transcript	ENST00000356175.7	protein_coding	-	9/56	ENST00000356175.7:c.1062+168G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7765	-	-	-	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31200763-31200763	T	intron_variant	MODIFIER	NF1	ENSG00000196712	Transcript	ENST00000358273.9	protein_coding	-	9/57	ENST00000358273.9:c.1062+168G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7765	YES	MANE_Select	NM_001042492.3	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31200763-31200763	T	intron_variant	MODIFIER	NF1	ENSG00000196712	Transcript	ENST00000431387.8	protein_coding	-	9/14	ENST00000431387.8:c.1062+168G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7765	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31200763-31200763	T	intron_variant	MODIFIER	NF1	ENSG00000196712	Transcript	ENST00000456735.6	protein_coding	-	1/49	ENST00000456735.6:c.60+168G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:7765	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31200763-31200763	T	intron_variant	MODIFIER	NF1	ENSG00000196712	Transcript	ENST00000487476.5	protein_coding	-	9/13	ENST00000487476.5:c.1062+168G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7765	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31200763-31200763	T	intron_variant,NMD_transcript_variant	MODIFIER	NF1	ENSG00000196712	Transcript	ENST00000495910.6	nonsense_mediated_decay	-	7/28	ENST00000495910.6:c.*463+168G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:7765	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31200763-31200763	T	intron_variant,NMD_transcript_variant	MODIFIER	NF1	ENSG00000196712	Transcript	ENST00000579081.6	nonsense_mediated_decay	-	9/57	ENST00000579081.6:c.1062+168G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7765	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31200763-31200763	T	intron_variant	MODIFIER	NF1	ENSG00000196712	Transcript	ENST00000686189.1	protein_coding	-	4/10	ENST00000686189.1:c.477+168G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:7765	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31200763-31200763	T	intron_variant,non_coding_transcript_variant	MODIFIER	NF1	ENSG00000196712	Transcript	ENST00000688507.1	retained_intron	-	1/2	ENST00000688507.1:n.768+168G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7765	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31200763-31200763	T	intron_variant	MODIFIER	NF1	ENSG00000196712	Transcript	ENST00000691014.1	protein_coding	-	9/58	ENST00000691014.1:c.1062+168G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7765	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31200763-31200763	T	non_coding_transcript_exon_variant	MODIFIER	NF1	ENSG00000196712	Transcript	ENST00000692326.1	retained_intron	1/2	-	ENST00000692326.1:n.1072G>T	-	1072	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7765	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31200763-31200763	T	intron_variant	MODIFIER	NF1	ENSG00000196712	Transcript	ENST00000696138.1	protein_coding	-	9/58	ENST00000696138.1:c.1062+168G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7765	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31523423-31523423	T	intron_variant	MODIFIER	RAB11FIP4	ENSG00000131242	Transcript	ENST00000394744.6	protein_coding	-	5/12	ENST00000394744.6:c.624-89G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:30267	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31523423-31523423	T	downstream_gene_variant	MODIFIER	RN7SL45P	ENSG00000264862	Transcript	ENST00000578050.2	misc_RNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4694	1	-	HGNC	HGNC:46061	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31523423-31523423	T	downstream_gene_variant	MODIFIER	RAB11FIP4	ENSG00000131242	Transcript	ENST00000578694.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	2239	1	-	HGNC	HGNC:30267	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31523423-31523423	T	intron_variant,non_coding_transcript_variant	MODIFIER	RAB11FIP4	ENSG00000131242	Transcript	ENST00000581460.1	retained_intron	-	2/5	ENST00000581460.1:n.221-89G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:30267	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31523423-31523423	T	downstream_gene_variant	MODIFIER	RAB11FIP4	ENSG00000131242	Transcript	ENST00000582009.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2200	1	cds_end_NF	HGNC	HGNC:30267	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31523423-31523423	T	intron_variant	MODIFIER	RAB11FIP4	ENSG00000131242	Transcript	ENST00000583755.1	protein_coding	-	3/5	ENST00000583755.1:c.150-89G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:30267	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31523423-31523423	T	non_coding_transcript_exon_variant	MODIFIER	RAB11FIP4	ENSG00000131242	Transcript	ENST00000585058.1	retained_intron	3/3	-	ENST00000585058.1:n.1654G>T	-	1654	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:30267	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31523423-31523423	T	intron_variant	MODIFIER	RAB11FIP4	ENSG00000131242	Transcript	ENST00000621161.5	protein_coding	-	7/14	ENST00000621161.5:c.930-89G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:30267	YES	MANE_Select	NM_032932.6	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:31523423-31523423	T	intron_variant	MODIFIER	RAB11FIP4	ENSG00000131242	Transcript	ENST00000964368.1	protein_coding	-	7/14	ENST00000964368.1:c.930-89G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:30267	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000261712.8	protein_coding	-	9/13	ENST00000261712.8:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	YES	MANE_Select	NM_002815.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000457654.6	protein_coding	-	9/12	ENST00000457654.6:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	2	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	upstream_gene_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000469475.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2335	1	-	HGNC	HGNC:9556	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant,non_coding_transcript_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000493026.2	retained_intron	-	1/2	ENST00000493026.2:n.904+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	non_coding_transcript_exon_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000578397.5	retained_intron	9/9	-	ENST00000578397.5:n.1092G>T	-	1092	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant,NMD_transcript_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000584340.1	nonsense_mediated_decay	-	4/4	ENST00000584340.1:c.*256+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:9556	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	upstream_gene_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000585265.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2449	1	-	HGNC	HGNC:9556	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000649012.1	protein_coding	-	9/13	ENST00000649012.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000899312.1	protein_coding	-	9/13	ENST00000899312.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000899313.1	protein_coding	-	9/13	ENST00000899313.1:c.873+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000899314.1	protein_coding	-	9/12	ENST00000899314.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000899315.1	protein_coding	-	9/13	ENST00000899315.1:c.897+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000899316.1	protein_coding	-	8/11	ENST00000899316.1:c.850-2108G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000899317.1	protein_coding	-	10/14	ENST00000899317.1:c.987+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000899318.1	protein_coding	-	9/11	ENST00000899318.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000899319.1	protein_coding	-	9/13	ENST00000899319.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000899320.1	protein_coding	-	9/13	ENST00000899320.1:c.903+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925957.1	protein_coding	-	9/13	ENST00000925957.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925958.1	protein_coding	-	9/11	ENST00000925958.1:c.873+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925959.1	protein_coding	-	9/12	ENST00000925959.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925960.1	protein_coding	-	8/12	ENST00000925960.1:c.717+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925961.1	protein_coding	-	9/13	ENST00000925961.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925962.1	protein_coding	-	8/10	ENST00000925962.1:c.850-2108G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925963.1	protein_coding	-	8/12	ENST00000925963.1:c.850-1508G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925964.1	protein_coding	-	9/13	ENST00000925964.1:c.906+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925965.1	protein_coding	-	8/12	ENST00000925965.1:c.729+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925966.1	protein_coding	-	9/13	ENST00000925966.1:c.870+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925967.1	protein_coding	-	5/9	ENST00000925967.1:c.462+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925968.1	protein_coding	-	9/11	ENST00000925968.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925969.1	protein_coding	-	9/12	ENST00000925969.1:c.873+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925970.1	protein_coding	-	9/12	ENST00000925970.1:c.897+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925971.1	protein_coding	-	6/10	ENST00000925971.1:c.657+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925972.1	protein_coding	-	9/11	ENST00000925972.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000925973.1	protein_coding	-	8/11	ENST00000925973.1:c.717+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000966387.1	protein_coding	-	9/13	ENST00000966387.1:c.903+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000966388.1	protein_coding	-	9/13	ENST00000966388.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000966389.1	protein_coding	-	9/13	ENST00000966389.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000966390.1	protein_coding	-	8/12	ENST00000966390.1:c.840+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000966391.1	protein_coding	-	9/13	ENST00000966391.1:c.885+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000966392.1	protein_coding	-	9/12	ENST00000966392.1:c.912+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:32477743-32477743	T	intron_variant	MODIFIER	PSMD11	ENSG00000108671	Transcript	ENST00000966393.1	protein_coding	-	9/12	ENST00000966393.1:c.879+160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9556	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:34954559-34954559	T	missense_variant	MODERATE	CCT6B	ENSG00000132141	Transcript	ENST00000314144.10	protein_coding	4/14	-	ENST00000314144.10:c.377C>A	ENSP00000327191.5:p.Ala126Glu	444	377	126	A/E	gCa/gAa	-	G	G/T	-	-1	-	HGNC	HGNC:1621	YES	MANE_Select	NM_006584.4	-	1	P1	-	deleterious_low_confidence(0)	probably_damaging(0.986)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.9845	-	-	-	-
.	17:34954559-34954559	T	missense_variant	MODERATE	CCT6B	ENSG00000132141	Transcript	ENST00000421975.7	protein_coding	4/13	-	ENST00000421975.7:c.377C>A	ENSP00000398044.3:p.Ala126Glu	386	377	126	A/E	gCa/gAa	-	G	G/T	-	-1	-	HGNC	HGNC:1621	-	-	-	-	1	-	-	deleterious_low_confidence(0)	probably_damaging(0.987)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.9845	-	-	-	-
.	17:34954559-34954559	T	missense_variant	MODERATE	CCT6B	ENSG00000132141	Transcript	ENST00000436961.7	protein_coding	3/13	-	ENST00000436961.7:c.242C>A	ENSP00000400917.3:p.Ala81Glu	307	242	81	A/E	gCa/gAa	-	G	G/T	-	-1	-	HGNC	HGNC:1621	-	-	-	-	2	-	-	deleterious_low_confidence(0)	probably_damaging(0.987)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:34954559-34954559	T	upstream_gene_variant	MODIFIER	CCT6B	ENSG00000132141	Transcript	ENST00000577307.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4844	-1	-	HGNC	HGNC:1621	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:34954559-34954559	T	5_prime_UTR_variant	MODIFIER	CCT6B	ENSG00000132141	Transcript	ENST00000585073.1	protein_coding	2/5	-	ENST00000585073.1:c.-50C>A	-	221	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:1621	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:34954559-34954559	T	missense_variant	MODERATE	CCT6B	ENSG00000132141	Transcript	ENST00000885297.1	protein_coding	3/12	-	ENST00000885297.1:c.242C>A	ENSP00000555356.1:p.Ala81Glu	343	242	81	A/E	gCa/gAa	-	G	G/T	-	-1	-	HGNC	HGNC:1621	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:34954559-34954559	T	intron_variant	MODIFIER	CCT6B	ENSG00000132141	Transcript	ENST00000885298.1	protein_coding	-	1/9	ENST00000885298.1:c.137+6698C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1621	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35132507-35132507	G	downstream_gene_variant	MODIFIER	FNDC8	ENSG00000073598	Transcript	ENST00000158009.6	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/G	1775	1	-	HGNC	HGNC:25286	YES	MANE_Select	NM_017559.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35132507-35132507	G	intron_variant	MODIFIER	NLE1	ENSG00000073536	Transcript	ENST00000360831.9	protein_coding	-	11/11	ENST00000360831.9:c.1320-58G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:19889	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35132507-35132507	G	intron_variant	MODIFIER	NLE1	ENSG00000073536	Transcript	ENST00000442241.9	protein_coding	-	12/12	ENST00000442241.9:c.1446-58G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:19889	YES	MANE_Select	NM_018096.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35132507-35132507	G	intron_variant	MODIFIER	NLE1	ENSG00000073536	Transcript	ENST00000586869.5	protein_coding	-	11/11	ENST00000586869.5:c.570-58G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:19889	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35132507-35132507	G	intron_variant	MODIFIER	NLE1	ENSG00000073536	Transcript	ENST00000588019.1	protein_coding	-	7/7	ENST00000588019.1:c.902-58G>C	-	-	-	-	-	-	-	C	C/G	-	-1	cds_start_NF	HGNC	HGNC:19889	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35132507-35132507	G	downstream_gene_variant	MODIFIER	NLE1	ENSG00000073536	Transcript	ENST00000588642.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	C	C/G	4546	-1	-	HGNC	HGNC:19889	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35132507-35132507	G	downstream_gene_variant	MODIFIER	NLE1	ENSG00000073536	Transcript	ENST00000589367.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	C	C/G	3860	-1	-	HGNC	HGNC:19889	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35132507-35132507	G	downstream_gene_variant	MODIFIER	NLE1	ENSG00000073536	Transcript	ENST00000593176.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	C	C/G	4517	-1	-	HGNC	HGNC:19889	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35132507-35132507	G	intron_variant	MODIFIER	NLE1	ENSG00000073536	Transcript	ENST00000932057.1	protein_coding	-	12/12	ENST00000932057.1:c.1326-58G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:19889	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000268876.9	protein_coding	-	16/19	ENST00000268876.9:c.2146-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	5	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000394570.7	protein_coding	-	16/19	ENST00000394570.7:c.2140-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	YES	MANE_Select	NM_001267052.2	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000591048.2	protein_coding	-	13/16	ENST00000591048.2:c.1903-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000870785.1	protein_coding	-	16/19	ENST00000870785.1:c.2140-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000870786.1	protein_coding	-	17/20	ENST00000870786.1:c.2257-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000870787.1	protein_coding	-	15/18	ENST00000870787.1:c.1969-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958206.1	protein_coding	-	16/19	ENST00000958206.1:c.2140-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958207.1	protein_coding	-	15/18	ENST00000958207.1:c.1969-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958208.1	protein_coding	-	15/18	ENST00000958208.1:c.2140-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958209.1	protein_coding	-	16/19	ENST00000958209.1:c.2137-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958210.1	protein_coding	-	16/17	ENST00000958210.1:c.2139+244G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958211.1	protein_coding	-	14/17	ENST00000958211.1:c.1744-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958212.1	protein_coding	-	16/19	ENST00000958212.1:c.2137-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958213.1	protein_coding	-	14/17	ENST00000958213.1:c.1945-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958214.1	protein_coding	-	16/19	ENST00000958214.1:c.2137-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958215.1	protein_coding	-	11/14	ENST00000958215.1:c.1567-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958216.1	protein_coding	-	16/19	ENST00000958216.1:c.2125-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958217.1	protein_coding	-	14/17	ENST00000958217.1:c.1744-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958218.1	protein_coding	-	16/19	ENST00000958218.1:c.2137-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958219.1	protein_coding	-	16/19	ENST00000958219.1:c.2140-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958220.1	protein_coding	-	13/16	ENST00000958220.1:c.1732-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35177374-35177374	T	intron_variant	MODIFIER	UNC45B	ENSG00000141161	Transcript	ENST00000958221.1	protein_coding	-	16/19	ENST00000958221.1:c.2140-121G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14304	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35258913-35258913	T	stop_gained	HIGH	SLFN5	ENSG00000166750	Transcript	ENST00000299977.9	protein_coding	2/5	-	ENST00000299977.9:c.223G>T	ENSP00000299977.3:p.Gly75Ter	335	223	75	G/*	Gga/Tga	-	G	G/T	-	1	-	HGNC	HGNC:28286	YES	MANE_Select	NM_144975.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35258913-35258913	T	stop_gained	HIGH	SLFN5	ENSG00000166750	Transcript	ENST00000542451.1	protein_coding	2/4	-	ENST00000542451.1:c.223G>T	ENSP00000440537.1:p.Gly75Ter	336	223	75	G/*	Gga/Tga	-	G	G/T	-	1	-	HGNC	HGNC:28286	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35258913-35258913	T	stop_gained	HIGH	SLFN5	ENSG00000166750	Transcript	ENST00000592325.1	protein_coding	2/2	-	ENST00000592325.1:c.223G>T	ENSP00000466984.1:p.Gly75Ter	318	223	75	G/*	Gga/Tga	-	G	G/T	-	1	-	HGNC	HGNC:28286	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35258913-35258913	T	stop_gained	HIGH	SLFN5	ENSG00000166750	Transcript	ENST00000884250.1	protein_coding	2/5	-	ENST00000884250.1:c.223G>T	ENSP00000554309.1:p.Gly75Ter	456	223	75	G/*	Gga/Tga	-	G	G/T	-	1	-	HGNC	HGNC:28286	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35258913-35258913	T	stop_gained	HIGH	SLFN5	ENSG00000166750	Transcript	ENST00000884251.1	protein_coding	2/5	-	ENST00000884251.1:c.223G>T	ENSP00000554310.1:p.Gly75Ter	450	223	75	G/*	Gga/Tga	-	G	G/T	-	1	-	HGNC	HGNC:28286	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35258913-35258913	T	stop_gained	HIGH	SLFN5	ENSG00000166750	Transcript	ENST00000884252.1	protein_coding	1/4	-	ENST00000884252.1:c.223G>T	ENSP00000554311.1:p.Gly75Ter	1745	223	75	G/*	Gga/Tga	-	G	G/T	-	1	-	HGNC	HGNC:28286	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35522730-35522730	C	5_prime_UTR_variant	MODIFIER	SLFN12L	ENSG00000205045	Transcript	ENST00000628453.4	protein_coding	2/5	-	ENST00000628453.4:c.-366C>G	-	346	-	-	-	-	rs1916035399	G	G/C	-	-1	-	HGNC	HGNC:33920	YES	MANE_Select	NM_001363830.2	-	5	A2	-	-	-	-	5.473e-06	0	4.473e-05	0	2.519e-05	0	0	0	8.28e-05	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35522730-35522730	C	non_coding_transcript_exon_variant	MODIFIER	-	ENSG00000286030	Transcript	ENST00000650652.2	transcribed_unprocessed_pseudogene	1/1	-	ENST00000650652.2:n.240C>G	-	240	-	-	-	-	rs1916035399	G	G/C	-	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	5.473e-06	0	4.473e-05	0	2.519e-05	0	0	0	8.28e-05	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:35522730-35522730	C	non_coding_transcript_exon_variant	MODIFIER	SLFN12L	ENSG00000205045	Transcript	ENST00000714259.1	protein_coding_CDS_not_defined	2/3	-	ENST00000714259.1:n.351C>G	-	351	-	-	-	-	rs1916035399	G	G/C	-	-1	-	HGNC	HGNC:33920	-	-	-	-	-	-	-	-	-	-	5.473e-06	0	4.473e-05	0	2.519e-05	0	0	0	8.28e-05	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38957391-38957391	T	intron_variant	MODIFIER	FBXO47	ENSG00000204952	Transcript	ENST00000378079.3	protein_coding	-	3/10	ENST00000378079.3:c.353-138C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:31969	YES	MANE_Select	NM_001008777.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	non_coding_transcript_exon_variant	MODIFIER	LRRC37A11P	ENSG00000290925	Transcript	ENST00000425901.2	lncRNA	1/5	-	ENST00000425901.2:n.862G>T	-	862	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:43815	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	upstream_gene_variant	MODIFIER	LINC02079	ENSG00000266013	Transcript	ENST00000577621.2	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	2836	-1	-	HGNC	HGNC:52927	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	intron_variant,non_coding_transcript_variant	MODIFIER	LRRC37A11P	ENSG00000214553	Transcript	ENST00000579258.6	transcribed_unprocessed_pseudogene	-	3/11	ENST00000579258.6:n.2081-385G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:43815	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	upstream_gene_variant	MODIFIER	LINC02079	ENSG00000266013	Transcript	ENST00000582518.2	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3599	-1	-	HGNC	HGNC:52927	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	downstream_gene_variant	MODIFIER	-	ENSG00000266048	Transcript	ENST00000584401.1	processed_pseudogene	-	-	-	-	-	-	-	-	-	-	G	G/T	3159	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	downstream_gene_variant	MODIFIER	-	ENSG00000277426	Transcript	ENST00000612680.1	unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	G	G/T	4025	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	upstream_gene_variant	MODIFIER	LRRC37A11P	ENSG00000290925	Transcript	ENST00000647826.3	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	2342	1	-	HGNC	HGNC:43815	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	upstream_gene_variant	MODIFIER	LINC02079	ENSG00000266013	Transcript	ENST00000717160.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	2875	-1	-	HGNC	HGNC:52927	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	upstream_gene_variant	MODIFIER	LINC02079	ENSG00000266013	Transcript	ENST00000717161.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	2849	-1	-	HGNC	HGNC:52927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	upstream_gene_variant	MODIFIER	LINC02079	ENSG00000266013	Transcript	ENST00000717163.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3600	-1	-	HGNC	HGNC:52927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	intron_variant,non_coding_transcript_variant	MODIFIER	LRRC37A11P	ENSG00000290925	Transcript	ENST00000735017.1	lncRNA	-	1/2	ENST00000735017.1:n.81-3403G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:43815	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	downstream_gene_variant	MODIFIER	LRRC37A11P	ENSG00000290925	Transcript	ENST00000735023.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	2751	1	-	HGNC	HGNC:43815	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	intron_variant,non_coding_transcript_variant	MODIFIER	LINC02079	ENSG00000266013	Transcript	ENST00000735518.1	lncRNA	-	1/2	ENST00000735518.1:n.57+333C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:52927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	upstream_gene_variant	MODIFIER	LINC02079	ENSG00000266013	Transcript	ENST00000735519.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3062	-1	-	HGNC	HGNC:52927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39030767-39030767	T	upstream_gene_variant	MODIFIER	LINC02079	ENSG00000266013	Transcript	ENST00000735521.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3600	-1	-	HGNC	HGNC:52927	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000315392.9	protein_coding	-	7/13	ENST00000315392.9:c.811+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	YES	MANE_Select	NM_020405.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant,non_coding_transcript_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000394318.7	retained_intron	-	7/13	ENST00000394318.7:n.893+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000441877.5	protein_coding	-	7/7	ENST00000441877.5:c.592+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:20945	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant,non_coding_transcript_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000444435.1	protein_coding_CDS_not_defined	-	2/2	ENST00000444435.1:n.163-136C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000444911.6	protein_coding	-	6/12	ENST00000444911.6:c.691+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant,non_coding_transcript_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000461225.5	retained_intron	-	7/12	ENST00000461225.5:n.1044+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant,non_coding_transcript_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000493200.5	protein_coding_CDS_not_defined	-	6/12	ENST00000493200.5:n.838+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant,NMD_transcript_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000578390.5	nonsense_mediated_decay	-	7/14	ENST00000578390.5:c.811+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant,non_coding_transcript_variant	MODIFIER	RDM1P5	ENSG00000293194	Transcript	ENST00000578423.1	lncRNA	-	3/4	ENST00000578423.1:n.326-10308G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	EntrezGene	HGNC:53921	YES	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant,non_coding_transcript_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000578517.5	retained_intron	-	7/13	ENST00000578517.5:n.839+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant,NMD_transcript_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000578808.5	nonsense_mediated_decay	-	8/8	ENST00000578808.5:c.*392+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000579279.5	protein_coding	-	2/6	ENST00000579279.5:c.181+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF,cds_end_NF	HGNC	HGNC:20945	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000881056.1	protein_coding	-	7/12	ENST00000881056.1:c.811+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000881057.1	protein_coding	-	7/12	ENST00000881057.1:c.811+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000961384.1	protein_coding	-	3/8	ENST00000961384.1:c.355+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	intron_variant	MODIFIER	PLXDC1	ENSG00000161381	Transcript	ENST00000961385.1	protein_coding	-	6/12	ENST00000961385.1:c.667+8745C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:20945	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39097109-39097109	T	regulatory_region_variant	MODIFIER	-	-	RegulatoryFeature	ENSR17_B9QHD	enhancer	-	-	-	-	-	-	-	-	-	-	G	G/T	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39213291-39213291	T	intron_variant	MODIFIER	STAC2	ENSG00000141750	Transcript	ENST00000333461.6	protein_coding	-	9/10	ENST00000333461.6:c.994-159C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23990	YES	MANE_Select	NM_198993.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39213291-39213291	T	intron_variant,NMD_transcript_variant	MODIFIER	STAC2	ENSG00000141750	Transcript	ENST00000584501.1	nonsense_mediated_decay	-	9/10	ENST00000584501.1:c.*345-159C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23990	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39213291-39213291	T	upstream_gene_variant	MODIFIER	-	ENSG00000299210	Transcript	ENST00000761622.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3429	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39213291-39213291	T	upstream_gene_variant	MODIFIER	-	ENSG00000299210	Transcript	ENST00000761623.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3417	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39213291-39213291	T	downstream_gene_variant	MODIFIER	-	ENSG00000309604	Transcript	ENST00000842273.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1145	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39213291-39213291	T	intron_variant	MODIFIER	STAC2	ENSG00000141750	Transcript	ENST00000879293.1	protein_coding	-	7/8	ENST00000879293.1:c.790-159C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23990	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39213291-39213291	T	intron_variant	MODIFIER	STAC2	ENSG00000141750	Transcript	ENST00000925549.1	protein_coding	-	9/10	ENST00000925549.1:c.1009-159C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23990	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39213291-39213291	T	intron_variant	MODIFIER	STAC2	ENSG00000141750	Transcript	ENST00000945425.1	protein_coding	-	9/10	ENST00000945425.1:c.733-165C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23990	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39213291-39213291	T	intron_variant	MODIFIER	STAC2	ENSG00000141750	Transcript	ENST00000945426.1	protein_coding	-	10/11	ENST00000945426.1:c.1060-159C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23990	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	downstream_gene_variant	MODIFIER	PNMT	ENSG00000141744	Transcript	ENST00000269582.3	protein_coding	-	-	-	-	-	-	-	-	-	rs947543769	C	C/T	2873	1	-	HGNC	HGNC:9160	YES	MANE_Select	NM_002686.4	-	1	P1	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	intron_variant	MODIFIER	PGAP3	ENSG00000161395	Transcript	ENST00000300658.9	protein_coding	-	6/7	ENST00000300658.9:c.695-93G>A	-	-	-	-	-	-	rs947543769	C	C/T	-	-1	-	HGNC	HGNC:23719	YES	MANE_Select	NM_033419.5	-	1	P1	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	intron_variant,non_coding_transcript_variant	MODIFIER	PGAP3	ENSG00000161395	Transcript	ENST00000309862.10	retained_intron	-	5/6	ENST00000309862.10:n.1080-93G>A	-	-	-	-	-	-	rs947543769	C	C/T	-	-1	-	HGNC	HGNC:23719	-	-	-	-	2	-	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	intron_variant	MODIFIER	PGAP3	ENSG00000161395	Transcript	ENST00000378011.8	protein_coding	-	5/6	ENST00000378011.8:c.542-93G>A	-	-	-	-	-	-	rs947543769	C	C/T	-	-1	-	HGNC	HGNC:23719	-	-	-	-	2	-	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	downstream_gene_variant	MODIFIER	PNMT	ENSG00000141744	Transcript	ENST00000394246.1	protein_coding	-	-	-	-	-	-	-	-	-	rs947543769	C	C/T	2875	1	-	HGNC	HGNC:9160	-	-	-	-	2	-	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	intron_variant	MODIFIER	PGAP3	ENSG00000161395	Transcript	ENST00000429199.6	protein_coding	-	5/6	ENST00000429199.6:c.632-93G>A	-	-	-	-	-	-	rs947543769	C	C/T	-	-1	-	HGNC	HGNC:23719	-	-	-	-	2	-	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	intron_variant,NMD_transcript_variant	MODIFIER	PGAP3	ENSG00000161395	Transcript	ENST00000577337.5	nonsense_mediated_decay	-	5/5	ENST00000577337.5:c.*372-93G>A	-	-	-	-	-	-	rs947543769	C	C/T	-	-1	cds_start_NF	HGNC	HGNC:23719	-	-	-	-	3	-	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	intron_variant	MODIFIER	PGAP3	ENSG00000161395	Transcript	ENST00000579146.5	protein_coding	-	3/3	ENST00000579146.5:c.433-482G>A	-	-	-	-	-	-	rs947543769	C	C/T	-	-1	-	HGNC	HGNC:23719	-	-	-	-	2	-	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	downstream_gene_variant	MODIFIER	PGAP3	ENSG00000161395	Transcript	ENST00000580898.5	retained_intron	-	-	-	-	-	-	-	-	-	rs947543769	C	C/T	181	-1	-	HGNC	HGNC:23719	-	-	-	-	4	-	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	downstream_gene_variant	MODIFIER	PNMT	ENSG00000141744	Transcript	ENST00000581428.1	protein_coding	-	-	-	-	-	-	-	-	-	rs947543769	C	C/T	3258	1	-	HGNC	HGNC:9160	-	-	-	-	2	-	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	downstream_gene_variant	MODIFIER	PGAP3	ENSG00000161395	Transcript	ENST00000582276.1	retained_intron	-	-	-	-	-	-	-	-	-	rs947543769	C	C/T	593	-1	-	HGNC	HGNC:23719	-	-	-	-	4	-	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	downstream_gene_variant	MODIFIER	PGAP3	ENSG00000161395	Transcript	ENST00000584620.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	rs947543769	C	C/T	527	-1	cds_start_NF	HGNC	HGNC:23719	-	-	-	-	3	-	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39673348-39673348	T	intron_variant	MODIFIER	PGAP3	ENSG00000161395	Transcript	ENST00000619169.4	protein_coding	-	3/4	ENST00000619169.4:c.-380-93G>A	-	-	-	-	-	-	rs947543769	C	C/T	-	-1	-	HGNC	HGNC:23719	-	-	-	-	2	-	-	-	-	-	1.066e-05	0	0	0	0	0	0	1.39e-05	0	0	1.972e-05	0	0	0	0	0	0	0	4.41e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39943323-39943323	T	intron_variant	MODIFIER	LRRC3C	ENSG00000204913	Transcript	ENST00000377924.6	protein_coding	-	3/3	ENST00000377924.6:c.27-610G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:40034	YES	MANE_Select	NM_001195545.2	-	3	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39943323-39943323	T	downstream_gene_variant	MODIFIER	-	ENSG00000264968	Transcript	ENST00000582263.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3722	1	-	-	-	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:39943323-39943323	T	downstream_gene_variant	MODIFIER	-	ENSG00000264968	Transcript	ENST00000790964.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3604	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	CSF3	ENSG00000108342	Transcript	ENST00000225474.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1698	1	-	HGNC	HGNC:2438	-	-	-	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	CSF3	ENSG00000108342	Transcript	ENST00000331769.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1698	1	-	HGNC	HGNC:2438	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000356271.7	protein_coding	25/25	-	ENST00000356271.7:c.*18C>A	-	3033	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000394126.5	protein_coding	25/25	-	ENST00000394126.5:c.*18C>A	-	3482	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000394127.6	protein_coding	25/25	-	ENST00000394127.6:c.*18C>A	-	3053	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000394128.7	protein_coding	26/26	-	ENST00000394128.7:c.*18C>A	-	3073	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	YES	MANE_Select	NM_014815.4	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	CSF3	ENSG00000108342	Transcript	ENST00000394148.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2454	1	-	HGNC	HGNC:2438	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	CSF3	ENSG00000108342	Transcript	ENST00000394149.8	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1698	1	-	HGNC	HGNC:2438	YES	MANE_Select	NM_172219.3	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000422942.6	protein_coding	7/7	-	ENST00000422942.6:c.*18C>A	-	897	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:22963	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000470126.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	121	-1	-	HGNC	HGNC:22963	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	CSF3	ENSG00000108342	Transcript	ENST00000479880.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2568	1	-	HGNC	HGNC:2438	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000491466.5	nonsense_mediated_decay	5/5	-	ENST00000491466.5:c.*338C>A	-	591	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:22963	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000492176.2	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2901	-1	-	HGNC	HGNC:22963	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000501516.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	18	-1	-	HGNC	HGNC:22963	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000535071.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2883	-1	cds_end_NF	HGNC	HGNC:22963	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000535508.6	nonsense_mediated_decay	25/25	-	ENST00000535508.6:c.*2611C>A	-	2996	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	CSF3	ENSG00000108342	Transcript	ENST00000577675.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1863	1	-	HGNC	HGNC:2438	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	non_coding_transcript_exon_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000579364.1	retained_intron	2/2	-	ENST00000579364.1:n.761C>A	-	761	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	CSF3	ENSG00000108342	Transcript	ENST00000579852.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	1753	1	-	HGNC	HGNC:2438	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000580720.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3631	-1	-	HGNC	HGNC:22963	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000580885.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3778	-1	cds_end_NF	HGNC	HGNC:22963	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000581058.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	3854	-1	cds_start_NF	HGNC	HGNC:22963	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	CSF3	ENSG00000108342	Transcript	ENST00000582798.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3349	1	-	HGNC	HGNC:2438	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	CSF3	ENSG00000108342	Transcript	ENST00000583218.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2594	1	cds_end_NF	HGNC	HGNC:2438	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	upstream_gene_variant	MODIFIER	PSMD3-AS1	ENSG00000265799	Transcript	ENST00000583462.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4882	-1	-	HGNC	HGNC:58140	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	upstream_gene_variant	MODIFIER	PSMD3-AS1	ENSG00000265799	Transcript	ENST00000584649.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4806	-1	-	HGNC	HGNC:58140	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	upstream_gene_variant	MODIFIER	PSMD3-AS1	ENSG00000265799	Transcript	ENST00000801108.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4793	-1	-	HGNC	HGNC:58140	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000887915.1	protein_coding	26/26	-	ENST00000887915.1:c.*18C>A	-	3086	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000887916.1	protein_coding	26/26	-	ENST00000887916.1:c.*18C>A	-	3118	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000887917.1	protein_coding	27/27	-	ENST00000887917.1:c.*18C>A	-	3175	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000887918.1	protein_coding	26/26	-	ENST00000887918.1:c.*18C>A	-	3106	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000887919.1	protein_coding	27/27	-	ENST00000887919.1:c.*18C>A	-	3154	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000887920.1	protein_coding	27/27	-	ENST00000887920.1:c.*18C>A	-	3127	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000887921.1	protein_coding	25/25	-	ENST00000887921.1:c.*18C>A	-	3031	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000887922.1	protein_coding	26/26	-	ENST00000887922.1:c.*18C>A	-	3087	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000931323.1	protein_coding	26/26	-	ENST00000931323.1:c.*18C>A	-	3020	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000931324.1	protein_coding	26/26	-	ENST00000931324.1:c.*18C>A	-	3080	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000931325.1	protein_coding	25/25	-	ENST00000931325.1:c.*18C>A	-	3757	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000931326.1	protein_coding	25/25	-	ENST00000931326.1:c.*18C>A	-	3796	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000931327.1	protein_coding	27/27	-	ENST00000931327.1:c.*18C>A	-	3110	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000931328.1	protein_coding	26/26	-	ENST00000931328.1:c.*18C>A	-	3087	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000931329.1	protein_coding	26/26	-	ENST00000931329.1:c.*18C>A	-	3612	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	CSF3	ENSG00000108342	Transcript	ENST00000945857.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1695	1	-	HGNC	HGNC:2438	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000972424.1	protein_coding	26/26	-	ENST00000972424.1:c.*18C>A	-	4098	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000972425.1	protein_coding	26/26	-	ENST00000972425.1:c.*18C>A	-	4057	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000972426.1	protein_coding	27/27	-	ENST00000972426.1:c.*18C>A	-	3122	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000972427.1	protein_coding	26/26	-	ENST00000972427.1:c.*18C>A	-	3112	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000972428.1	protein_coding	21/21	-	ENST00000972428.1:c.*18C>A	-	2497	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000972429.1	protein_coding	26/26	-	ENST00000972429.1:c.*18C>A	-	3094	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000972430.1	protein_coding	27/27	-	ENST00000972430.1:c.*18C>A	-	3162	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000972431.1	protein_coding	26/26	-	ENST00000972431.1:c.*18C>A	-	3091	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000972432.1	protein_coding	26/26	-	ENST00000972432.1:c.*18C>A	-	3101	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	3_prime_UTR_variant	MODIFIER	MED24	ENSG00000008838	Transcript	ENST00000972433.1	protein_coding	26/26	-	ENST00000972433.1:c.*18C>A	-	3054	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:22963	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	intron_variant	MODIFIER	RAPGEFL1	ENSG00000108352	Transcript	ENST00000264644.10	protein_coding	-	4/14	ENST00000264644.10:c.216-246G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17428	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	intron_variant	MODIFIER	RAPGEFL1	ENSG00000108352	Transcript	ENST00000456989.6	protein_coding	-	4/14	ENST00000456989.6:c.381-246G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17428	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	upstream_gene_variant	MODIFIER	RAPGEFL1	ENSG00000108352	Transcript	ENST00000469209.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	590	1	-	HGNC	HGNC:17428	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	upstream_gene_variant	MODIFIER	RAPGEFL1	ENSG00000108352	Transcript	ENST00000496032.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2850	1	-	HGNC	HGNC:17428	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	downstream_gene_variant	MODIFIER	RAPGEFL1	ENSG00000108352	Transcript	ENST00000538884.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4326	1	cds_end_NF	HGNC	HGNC:17428	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	intron_variant	MODIFIER	RAPGEFL1	ENSG00000108352	Transcript	ENST00000538981.1	protein_coding	-	3/3	ENST00000538981.1:c.216-246G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:17428	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	downstream_gene_variant	MODIFIER	RAPGEFL1	ENSG00000108352	Transcript	ENST00000541245.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4312	1	cds_end_NF	HGNC	HGNC:17428	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	intron_variant	MODIFIER	RAPGEFL1	ENSG00000108352	Transcript	ENST00000543876.5	protein_coding	-	4/5	ENST00000543876.5:c.216-246G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:17428	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	intron_variant	MODIFIER	RAPGEFL1	ENSG00000108352	Transcript	ENST00000544503.5	protein_coding	-	4/14	ENST00000544503.5:c.363-246G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17428	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	non_coding_transcript_exon_variant	MODIFIER	RAPGEFL1	ENSG00000108352	Transcript	ENST00000545893.5	retained_intron	1/11	-	ENST00000545893.5:n.83G>T	-	83	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17428	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	upstream_gene_variant	MODIFIER	MIR6867	ENSG00000274621	Transcript	ENST00000610636.1	miRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4977	1	-	HGNC	HGNC:50134	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	intron_variant	MODIFIER	RAPGEFL1	ENSG00000108352	Transcript	ENST00000620260.6	protein_coding	-	4/14	ENST00000620260.6:c.834-246G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:17428	YES	MANE_Select	NM_016339.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40188620-40188620	T	downstream_gene_variant	MODIFIER	-	ENSG00000295930	Transcript	ENST00000734106.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1602	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000209728.9	protein_coding	4/12	-	ENST00000209728.9:c.461G>T	ENSP00000209728.4:p.Gly154Val	686	461	154	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	YES	MANE_Select	NM_001254.4	-	1	P4	-	deleterious(0)	possibly_damaging(0.749)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40291469-40291469	T	downstream_gene_variant	MODIFIER	CDC6	ENSG00000094804	Transcript	ENST00000473555.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	235	1	cds_end_NF	HGNC	HGNC:1744	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40291469-40291469	T	downstream_gene_variant	MODIFIER	CDC6	ENSG00000094804	Transcript	ENST00000577249.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	288	1	cds_end_NF	HGNC	HGNC:1744	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000580824.5	protein_coding	4/4	-	ENST00000580824.5:c.461G>T	ENSP00000463635.1:p.Gly154Val	610	461	154	G/V	gGc/gTc	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:1744	-	-	-	-	3	-	-	deleterious(0)	possibly_damaging(0.749)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40291469-40291469	T	non_coding_transcript_exon_variant	MODIFIER	CDC6	ENSG00000094804	Transcript	ENST00000582402.1	retained_intron	1/2	-	ENST00000582402.1:n.3G>T	-	3	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000649662.1	protein_coding	4/12	-	ENST00000649662.1:c.461G>T	ENSP00000497345.1:p.Gly154Val	491	461	154	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	-	P4	-	deleterious(0)	possibly_damaging(0.749)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000908720.1	protein_coding	4/12	-	ENST00000908720.1:c.461G>T	ENSP00000578779.1:p.Gly154Val	686	461	154	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000908721.1	protein_coding	4/12	-	ENST00000908721.1:c.461G>T	ENSP00000578780.1:p.Gly154Val	682	461	154	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000936766.1	protein_coding	4/12	-	ENST00000936766.1:c.461G>T	ENSP00000606825.1:p.Gly154Val	718	461	154	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000936767.1	protein_coding	4/13	-	ENST00000936767.1:c.461G>T	ENSP00000606826.1:p.Gly154Val	734	461	154	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000936768.1	protein_coding	4/12	-	ENST00000936768.1:c.236G>T	ENSP00000606827.1:p.Gly79Val	462	236	79	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000936769.1	protein_coding	4/12	-	ENST00000936769.1:c.461G>T	ENSP00000606828.1:p.Gly154Val	721	461	154	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	-	P4	-	deleterious(0)	possibly_damaging(0.749)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000936770.1	protein_coding	4/12	-	ENST00000936770.1:c.461G>T	ENSP00000606829.1:p.Gly154Val	682	461	154	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000936771.1	protein_coding	4/12	-	ENST00000936771.1:c.461G>T	ENSP00000606830.1:p.Gly154Val	540	461	154	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000936772.1	protein_coding	4/11	-	ENST00000936772.1:c.461G>T	ENSP00000606831.1:p.Gly154Val	640	461	154	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000936773.1	protein_coding	4/12	-	ENST00000936773.1:c.461G>T	ENSP00000606832.1:p.Gly154Val	701	461	154	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40291469-40291469	T	missense_variant,splice_region_variant	MODERATE	CDC6	ENSG00000094804	Transcript	ENST00000936774.1	protein_coding	4/12	-	ENST00000936774.1:c.461G>T	ENSP00000606833.1:p.Gly154Val	551	461	154	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:1744	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2619	-	-	-	-
.	17:40408629-40408629	T	missense_variant,splice_region_variant	MODERATE	TOP2A	ENSG00000131747	Transcript	ENST00000423485.6	protein_coding	11/35	-	ENST00000423485.6:c.1205C>A	ENSP00000411532.1:p.Ala402Asp	1310	1205	402	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:11989	YES	MANE_Select	NM_001067.4	-	1	P1	-	deleterious_low_confidence(0)	possibly_damaging(0.748)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.9988	-	-	-	-
.	17:40408629-40408629	T	downstream_gene_variant	MODIFIER	TOP2A	ENSG00000131747	Transcript	ENST00000581055.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4851	-1	cds_end_NF	HGNC	HGNC:11989	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40408629-40408629	T	missense_variant,splice_region_variant	MODERATE	TOP2A	ENSG00000131747	Transcript	ENST00000917864.1	protein_coding	11/34	-	ENST00000917864.1:c.1205C>A	ENSP00000587923.1:p.Ala402Asp	1310	1205	402	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:11989	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.9988	-	-	-	-
.	17:40408629-40408629	T	missense_variant,splice_region_variant	MODERATE	TOP2A	ENSG00000131747	Transcript	ENST00000917865.1	protein_coding	11/30	-	ENST00000917865.1:c.1205C>A	ENSP00000587924.1:p.Ala402Asp	1305	1205	402	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:11989	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.9988	-	-	-	-
.	17:41516976-41516976	A	splice_polypyrimidine_tract_variant,intron_variant	LOW	KRT15	ENSG00000171346	Transcript	ENST00000254043.8	protein_coding	-	2/7	ENST00000254043.8:c.582-12C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:6421	YES	MANE_Select	NM_002275.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41516976-41516976	A	splice_polypyrimidine_tract_variant,intron_variant	LOW	KRT15	ENSG00000171346	Transcript	ENST00000393974.7	protein_coding	-	1/6	ENST00000393974.7:c.87-12C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:6421	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41516976-41516976	A	splice_polypyrimidine_tract_variant,intron_variant	LOW	KRT15	ENSG00000171346	Transcript	ENST00000393976.6	protein_coding	-	4/9	ENST00000393976.6:c.582-12C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:6421	-	-	-	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41516976-41516976	A	splice_polypyrimidine_tract_variant,intron_variant	LOW	KRT15	ENSG00000171346	Transcript	ENST00000458290.5	protein_coding	-	2/5	ENST00000458290.5:c.87-12C>T	-	-	-	-	-	-	-	G	G/A	-	-1	cds_end_NF	HGNC	HGNC:6421	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41516976-41516976	A	non_coding_transcript_exon_variant	MODIFIER	KRT15	ENSG00000171346	Transcript	ENST00000463447.5	retained_intron	3/5	-	ENST00000463447.5:n.421C>T	-	421	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:6421	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41516976-41516976	A	splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant	LOW	KRT15	ENSG00000171346	Transcript	ENST00000470004.1	nonsense_mediated_decay	-	4/4	ENST00000470004.1:c.*293-12C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:6421	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41516976-41516976	A	splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant	LOW	KRT15	ENSG00000171346	Transcript	ENST00000474031.5	retained_intron	-	2/5	ENST00000474031.5:n.223-12C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:6421	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41516976-41516976	A	splice_polypyrimidine_tract_variant,intron_variant,NMD_transcript_variant	LOW	KRT15	ENSG00000171346	Transcript	ENST00000497016.5	nonsense_mediated_decay	-	4/5	ENST00000497016.5:c.170-12C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:6421	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41516976-41516976	A	upstream_gene_variant	MODIFIER	KRT15	ENSG00000171346	Transcript	ENST00000586794.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/A	2222	-1	-	HGNC	HGNC:6421	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41516976-41516976	A	downstream_gene_variant	MODIFIER	MIR6510	ENSG00000283796	Transcript	ENST00000613845.1	miRNA	-	-	-	-	-	-	-	-	-	-	G	G/A	188	-1	-	HGNC	HGNC:50101	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41516976-41516976	A	downstream_gene_variant	MODIFIER	-	ENSG00000295342	Transcript	ENST00000729401.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/A	4283	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41572032-41572032	T	5_prime_UTR_variant	MODIFIER	KRT9	ENSG00000171403	Transcript	ENST00000246662.9	protein_coding	1/8	-	ENST00000246662.9:c.-40C>A	-	28	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:6447	YES	MANE_Select	NM_000226.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41572032-41572032	T	5_prime_UTR_variant	MODIFIER	KRT9	ENSG00000171403	Transcript	ENST00000588431.1	protein_coding	1/9	-	ENST00000588431.1:c.-210C>A	-	22	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:6447	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41621248-41621248	T	intron_variant	MODIFIER	KRT17	ENSG00000128422	Transcript	ENST00000311208.13	protein_coding	-	4/7	ENST00000311208.13:c.835-157C>A	-	-	-	-	-	-	rs758015628	G	G/T	-	-1	-	HGNC	HGNC:6427	YES	MANE_Select	NM_000422.3	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41621248-41621248	T	intron_variant	MODIFIER	KRT17	ENSG00000128422	Transcript	ENST00000463128.5	protein_coding	-	5/5	ENST00000463128.5:c.220-157C>A	-	-	-	-	-	-	rs758015628	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:6427	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41621248-41621248	T	downstream_gene_variant	MODIFIER	KRT17	ENSG00000128422	Transcript	ENST00000491673.1	retained_intron	-	-	-	-	-	-	-	-	-	rs758015628	G	G/T	1625	-1	-	HGNC	HGNC:6427	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41621248-41621248	T	intron_variant,non_coding_transcript_variant	MODIFIER	KRT17	ENSG00000128422	Transcript	ENST00000493253.5	retained_intron	-	3/6	ENST00000493253.5:n.1222-157C>A	-	-	-	-	-	-	rs758015628	G	G/T	-	-1	-	HGNC	HGNC:6427	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41621248-41621248	T	downstream_gene_variant	MODIFIER	KRT17	ENSG00000128422	Transcript	ENST00000577817.3	protein_coding	-	-	-	-	-	-	-	-	-	rs758015628	G	G/T	379	-1	cds_start_NF,cds_end_NF	HGNC	HGNC:6427	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41621248-41621248	T	downstream_gene_variant	MODIFIER	KRT17	ENSG00000128422	Transcript	ENST00000590038.1	retained_intron	-	-	-	-	-	-	-	-	-	rs758015628	G	G/T	414	-1	-	HGNC	HGNC:6427	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41621248-41621248	T	upstream_gene_variant	MODIFIER	KRT17	ENSG00000128422	Transcript	ENST00000648859.1	protein_coding	-	-	-	-	-	-	-	-	-	rs758015628	G	G/T	419	-1	cds_start_NF	HGNC	HGNC:6427	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41621248-41621248	T	upstream_gene_variant	MODIFIER	KRT17	ENSG00000128422	Transcript	ENST00000649249.1	retained_intron	-	-	-	-	-	-	-	-	-	rs758015628	G	G/T	47	-1	-	HGNC	HGNC:6427	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41621248-41621248	T	non_coding_transcript_exon_variant	MODIFIER	-	ENSG00000289252	Transcript	ENST00000690855.2	lncRNA	2/2	-	ENST00000690855.2:n.886G>T	-	886	-	-	-	-	rs758015628	G	G/T	-	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41621248-41621248	T	intron_variant	MODIFIER	KRT17	ENSG00000128422	Transcript	ENST00000862596.1	protein_coding	-	4/7	ENST00000862596.1:c.832-157C>A	-	-	-	-	-	-	rs758015628	G	G/T	-	-1	-	HGNC	HGNC:6427	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF1	ENSG00000173812	Transcript	ENST00000310837.8	protein_coding_CDS_not_defined	-	2/2	ENST00000310837.8:n.272-178G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3249	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF1	ENSG00000173812	Transcript	ENST00000462917.1	retained_intron	-	1/1	ENST00000462917.1:n.1306-178G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3249	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	intron_variant	MODIFIER	EIF1	ENSG00000173812	Transcript	ENST00000469257.2	protein_coding	-	3/3	ENST00000469257.2:c.298-178G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3249	YES	MANE_Select	NM_005801.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF1	ENSG00000173812	Transcript	ENST00000469308.1	protein_coding_CDS_not_defined	-	3/3	ENST00000469308.1:n.598-178G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3249	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	intron_variant,non_coding_transcript_variant	MODIFIER	EIF1	ENSG00000173812	Transcript	ENST00000482111.1	retained_intron	-	2/2	ENST00000482111.1:n.588-178G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3249	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	3_prime_UTR_variant	MODIFIER	EIF1	ENSG00000173812	Transcript	ENST00000586699.1	protein_coding	2/2	-	ENST00000586699.1:c.*394G>T	-	556	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:3249	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	intron_variant	MODIFIER	EIF1	ENSG00000173812	Transcript	ENST00000591776.5	protein_coding	-	3/4	ENST00000591776.5:c.298-178G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3249	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	upstream_gene_variant	MODIFIER	-	ENSG00000309800	Transcript	ENST00000844032.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1921	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	upstream_gene_variant	MODIFIER	-	ENSG00000309800	Transcript	ENST00000844033.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1989	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	upstream_gene_variant	MODIFIER	-	ENSG00000309800	Transcript	ENST00000844034.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1931	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	upstream_gene_variant	MODIFIER	-	ENSG00000309800	Transcript	ENST00000844035.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1941	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	upstream_gene_variant	MODIFIER	-	ENSG00000309800	Transcript	ENST00000844036.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1363	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41690604-41690604	T	intron_variant	MODIFIER	EIF1	ENSG00000173812	Transcript	ENST00000940543.1	protein_coding	-	3/3	ENST00000940543.1:c.295-178G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3249	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000310706.9	protein_coding	2/15	-	ENST00000310706.9:c.119_160del	ENSP00000311113.5:p.Lys40_Tyr53del	238-279	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000393930.5	protein_coding	2/15	-	ENST00000393930.5:c.119_160del	ENSP00000377507.1:p.Lys40_Tyr53del	336-377	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	5	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000393931.8	protein_coding	2/14	-	ENST00000393931.8:c.119_160del	ENSP00000377508.3:p.Lys40_Tyr53del	251-292	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	YES	MANE_Select	NM_002230.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000420370.5	protein_coding	2/5	-	ENST00000420370.5:c.119_160del	ENSP00000411449.1:p.Lys40_Tyr53del	204-245	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	cds_end_NF	HGNC	HGNC:6207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000424457.5	protein_coding	3/5	-	ENST00000424457.5:c.119_160del	ENSP00000401034.1:p.Lys40_Tyr53del	361-402	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	cds_end_NF	HGNC	HGNC:6207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000437187.5	protein_coding	2/5	-	ENST00000437187.5:c.119_160del	ENSP00000394146.1:p.Lys40_Tyr53del	261-302	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	cds_end_NF	HGNC	HGNC:6207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000437369.5	protein_coding	3/4	-	ENST00000437369.5:c.119_160del	ENSP00000409948.1:p.Lys40_Tyr53del	445-486	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	cds_end_NF	HGNC	HGNC:6207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000449889.5	protein_coding	2/5	-	ENST00000449889.5:c.119_160del	ENSP00000389886.1:p.Lys40_Tyr53del	295-336	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	cds_end_NF	HGNC	HGNC:6207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	downstream_gene_variant	MODIFIER	JUP	ENSG00000173801	Transcript	ENST00000465293.1	protein_coding	-	-	-	-	-	-	-	-	-	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	111	-1	cds_end_NF	HGNC	HGNC:6207	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	non_coding_transcript_exon_variant	MODIFIER	JUP	ENSG00000173801	Transcript	ENST00000589036.1	retained_intron	2/2	-	ENST00000589036.1:n.247_288del	-	247-288	-	-	-	-	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000591690.5	protein_coding	2/3	-	ENST00000591690.5:c.119_160del	ENSP00000468347.1:p.Lys40_Tyr53del	390-431	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	cds_end_NF	HGNC	HGNC:6207	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885261.1	protein_coding	2/14	-	ENST00000885261.1:c.119_160del	ENSP00000555320.1:p.Lys40_Tyr53del	259-300	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885262.1	protein_coding	2/14	-	ENST00000885262.1:c.119_160del	ENSP00000555321.1:p.Lys40_Tyr53del	347-388	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885263.1	protein_coding	2/14	-	ENST00000885263.1:c.119_160del	ENSP00000555322.1:p.Lys40_Tyr53del	328-369	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885264.1	protein_coding	2/14	-	ENST00000885264.1:c.119_160del	ENSP00000555323.1:p.Lys40_Tyr53del	281-322	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885265.1	protein_coding	3/15	-	ENST00000885265.1:c.119_160del	ENSP00000555324.1:p.Lys40_Tyr53del	502-543	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885266.1	protein_coding	3/15	-	ENST00000885266.1:c.119_160del	ENSP00000555325.1:p.Lys40_Tyr53del	347-388	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885267.1	protein_coding	2/13	-	ENST00000885267.1:c.119_160del	ENSP00000555326.1:p.Lys40_Tyr53del	251-292	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885268.1	protein_coding	3/15	-	ENST00000885268.1:c.119_160del	ENSP00000555327.1:p.Lys40_Tyr53del	360-401	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885269.1	protein_coding	3/15	-	ENST00000885269.1:c.119_160del	ENSP00000555328.1:p.Lys40_Tyr53del	487-528	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885270.1	protein_coding	3/15	-	ENST00000885270.1:c.119_160del	ENSP00000555329.1:p.Lys40_Tyr53del	393-434	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885271.1	protein_coding	3/15	-	ENST00000885271.1:c.119_160del	ENSP00000555330.1:p.Lys40_Tyr53del	364-405	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885272.1	protein_coding	2/14	-	ENST00000885272.1:c.119_160del	ENSP00000555331.1:p.Lys40_Tyr53del	263-304	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885273.1	protein_coding	2/14	-	ENST00000885273.1:c.119_160del	ENSP00000555332.1:p.Lys40_Tyr53del	311-352	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885274.1	protein_coding	2/14	-	ENST00000885274.1:c.119_160del	ENSP00000555333.1:p.Lys40_Tyr53del	530-571	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885275.1	protein_coding	3/15	-	ENST00000885275.1:c.119_160del	ENSP00000555334.1:p.Lys40_Tyr53del	406-447	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885276.1	protein_coding	1/13	-	ENST00000885276.1:c.119_160del	ENSP00000555335.1:p.Lys40_Tyr53del	1990-2031	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885277.1	protein_coding	2/14	-	ENST00000885277.1:c.119_160del	ENSP00000555336.1:p.Lys40_Tyr53del	252-293	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000885278.1	protein_coding	2/14	-	ENST00000885278.1:c.119_160del	ENSP00000555337.1:p.Lys40_Tyr53del	394-435	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000918659.1	protein_coding	2/14	-	ENST00000918659.1:c.119_160del	ENSP00000588718.1:p.Lys40_Tyr53del	238-279	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	intron_variant	MODIFIER	JUP	ENSG00000173801	Transcript	ENST00000918660.1	protein_coding	-	2/5	ENST00000918660.1:c.36+83_36+124del	-	-	-	-	-	-	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000918661.1	protein_coding	3/15	-	ENST00000918661.1:c.119_160del	ENSP00000588720.1:p.Lys40_Tyr53del	777-818	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000918662.1	protein_coding	2/14	-	ENST00000918662.1:c.119_160del	ENSP00000588721.1:p.Lys40_Tyr53del	224-265	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000918663.1	protein_coding	3/15	-	ENST00000918663.1:c.119_160del	ENSP00000588722.1:p.Lys40_Tyr53del	325-366	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000918664.1	protein_coding	3/15	-	ENST00000918664.1:c.119_160del	ENSP00000588723.1:p.Lys40_Tyr53del	646-687	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000918665.1	protein_coding	2/14	-	ENST00000918665.1:c.119_160del	ENSP00000588724.1:p.Lys40_Tyr53del	489-530	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000918666.1	protein_coding	2/14	-	ENST00000918666.1:c.119_160del	ENSP00000588725.1:p.Lys40_Tyr53del	227-268	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000918667.1	protein_coding	2/14	-	ENST00000918667.1:c.119_160del	ENSP00000588726.1:p.Lys40_Tyr53del	450-491	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000918668.1	protein_coding	2/14	-	ENST00000918668.1:c.119_160del	ENSP00000588727.1:p.Lys40_Tyr53del	210-251	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000955949.1	protein_coding	2/15	-	ENST00000955949.1:c.119_160del	ENSP00000626008.1:p.Lys40_Tyr53del	275-316	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000955950.1	protein_coding	2/14	-	ENST00000955950.1:c.119_160del	ENSP00000626009.1:p.Lys40_Tyr53del	230-271	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000955951.1	protein_coding	3/15	-	ENST00000955951.1:c.119_160del	ENSP00000626010.1:p.Lys40_Tyr53del	292-333	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41771694-41771736	-	inframe_deletion	MODERATE	JUP	ENSG00000173801	Transcript	ENST00000955952.1	protein_coding	2/14	-	ENST00000955952.1:c.119_160del	ENSP00000626011.1:p.Lys40_Tyr53del	233-274	119-160	40-54	KGIMEEDEACGRQYT/T	aAGGGCATCATGGAGGAGGATGAGGCCTGCGGGCGCCAGTACAcg/acg	-	TGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT	GTGTACTGGCGCCCGCAGGCCTCATCCTCCTCCATGATGCCCT/G	-	-1	-	HGNC	HGNC:6207	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000316603.12	protein_coding	-	3/12	ENST00000316603.12:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000426588.7	protein_coding	-	4/13	ENST00000426588.7:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000457167.9	protein_coding	-	4/13	ENST00000457167.9:c.405+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	YES	MANE_Select	NM_003315.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,non_coding_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000585693.2	retained_intron	-	4/11	ENST00000585693.2:n.427+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,NMD_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000585866.6	nonsense_mediated_decay	-	5/14	ENST00000585866.6:c.*484+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,NMD_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000586335.2	nonsense_mediated_decay	-	4/14	ENST00000586335.2:c.405+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,NMD_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000588641.6	nonsense_mediated_decay	-	4/8	ENST00000588641.6:c.405+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,NMD_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000588814.5	nonsense_mediated_decay	-	4/13	ENST00000588814.5:c.405+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	downstream_gene_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000589547.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	4271	-1	-	HGNC	HGNC:12392	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000589576.6	protein_coding	-	4/12	ENST00000589576.6:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000589586.6	protein_coding	-	5/5	ENST00000589586.6:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:12392	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000589773.5	protein_coding	-	5/5	ENST00000589773.5:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:12392	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,NMD_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000589810.5	nonsense_mediated_decay	-	4/9	ENST00000589810.5:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000590348.6	protein_coding	-	4/7	ENST00000590348.6:c.345+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:12392	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000590774.6	protein_coding	-	4/13	ENST00000590774.6:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,non_coding_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000590847.2	retained_intron	-	4/8	ENST00000590847.2:n.385+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000590886.7	protein_coding	-	4/7	ENST00000590886.7:c.357+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:12392	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	upstream_gene_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000591153.2	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	3504	-1	-	HGNC	HGNC:12392	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	downstream_gene_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000591787.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	40	-1	cds_end_NF	HGNC	HGNC:12392	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674166.1	protein_coding	-	4/13	ENST00000674166.1:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674175.1	protein_coding	-	4/9	ENST00000674175.1:c.405+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,NMD_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674179.1	nonsense_mediated_decay	-	5/15	ENST00000674179.1:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674214.1	protein_coding	-	4/13	ENST00000674214.1:c.366+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674233.1	protein_coding	-	4/13	ENST00000674233.1:c.405+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,NMD_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674249.1	nonsense_mediated_decay	-	4/13	ENST00000674249.1:c.*35+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674252.1	protein_coding	-	5/14	ENST00000674252.1:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674287.1	protein_coding	-	4/13	ENST00000674287.1:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674303.1	protein_coding	-	4/13	ENST00000674303.1:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674306.1	protein_coding	-	3/12	ENST00000674306.1:c.291+829C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,non_coding_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674337.1	retained_intron	-	4/7	ENST00000674337.1:n.611+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674355.1	protein_coding	-	3/10	ENST00000674355.1:c.287+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674411.1	protein_coding	-	4/13	ENST00000674411.1:c.334+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF,cds_end_NF	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	non_coding_transcript_exon_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674425.1	retained_intron	4/4	-	ENST00000674425.1:n.445C>A	-	445	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,NMD_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674453.1	nonsense_mediated_decay	-	4/13	ENST00000674453.1:c.405+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,NMD_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674472.1	nonsense_mediated_decay	-	4/14	ENST00000674472.1:c.405+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,non_coding_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674481.1	retained_intron	-	4/12	ENST00000674481.1:n.427+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,non_coding_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674485.1	retained_intron	-	4/8	ENST00000674485.1:n.440+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674497.1	protein_coding	-	3/12	ENST00000674497.1:c.237+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant,NMD_transcript_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000674504.1	nonsense_mediated_decay	-	5/14	ENST00000674504.1:c.*484+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000904029.1	protein_coding	-	4/12	ENST00000904029.1:c.405+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000904030.1	protein_coding	-	4/12	ENST00000904030.1:c.405+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000904031.1	protein_coding	-	4/13	ENST00000904031.1:c.405+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:41996286-41996286	T	intron_variant	MODIFIER	DNAJC7	ENSG00000168259	Transcript	ENST00000968335.1	protein_coding	-	4/12	ENST00000968335.1:c.405+25C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:12392	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000225916.10	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2367	-1	-	HGNC	HGNC:4201	YES	MANE_Select	NM_021078.3	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000251642.8	protein_coding	5/14	-	ENST00000251642.8:c.540G>A	ENSP00000251642.3:p.Gly180%3D	744	540	180	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	YES	MANE_Select	NM_024119.3	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000413196.6	protein_coding	4/7	-	ENST00000413196.6:c.540G>A	ENSP00000416389.1:p.Gly180%3D	915	540	180	G	ggG/ggA	COSV99288154	C	C/T	-	-1	cds_end_NF	HGNC	HGNC:29517	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	DHX58	ENSG00000108771	Transcript	ENST00000430773.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	72	-1	cds_end_NF	HGNC	HGNC:29517	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000465682.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2374	-1	cds_start_NF	HGNC	HGNC:4201	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	non_coding_transcript_exon_variant	MODIFIER	DHX58	ENSG00000108771	Transcript	ENST00000586522.5	retained_intron	5/12	-	ENST00000586522.5:n.722G>A	-	722	-	-	-	-	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000586972.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2646	-1	-	HGNC	HGNC:4201	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000588759.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	3480	-1	cds_start_NF	HGNC	HGNC:4201	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	upstream_gene_variant	MODIFIER	DHX58	ENSG00000108771	Transcript	ENST00000590637.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2896	-1	-	HGNC	HGNC:29517	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	DHX58	ENSG00000108771	Transcript	ENST00000591220.5	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	35	-1	cds_end_NF	HGNC	HGNC:29517	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000592310.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	4949	-1	-	HGNC	HGNC:4201	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000873169.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2371	-1	-	HGNC	HGNC:4201	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000873170.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2367	-1	-	HGNC	HGNC:4201	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000873171.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2371	-1	-	HGNC	HGNC:4201	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000873172.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2369	-1	-	HGNC	HGNC:4201	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000873173.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2371	-1	-	HGNC	HGNC:4201	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000873174.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2371	-1	-	HGNC	HGNC:4201	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000873175.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2371	-1	-	HGNC	HGNC:4201	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000873176.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2369	-1	-	HGNC	HGNC:4201	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000873177.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2371	-1	-	HGNC	HGNC:4201	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000900696.1	protein_coding	5/14	-	ENST00000900696.1:c.540G>A	ENSP00000570755.1:p.Gly180%3D	765	540	180	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000900697.1	protein_coding	4/13	-	ENST00000900697.1:c.540G>A	ENSP00000570756.1:p.Gly180%3D	663	540	180	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000900698.1	protein_coding	5/14	-	ENST00000900698.1:c.540G>A	ENSP00000570757.1:p.Gly180%3D	744	540	180	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000900699.1	protein_coding	3/12	-	ENST00000900699.1:c.540G>A	ENSP00000570758.1:p.Gly180%3D	1362	540	180	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000900700.1	protein_coding	4/13	-	ENST00000900700.1:c.519G>A	ENSP00000570759.1:p.Gly173%3D	1108	519	173	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000900701.1	protein_coding	5/14	-	ENST00000900701.1:c.519G>A	ENSP00000570760.1:p.Gly173%3D	707	519	173	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000900702.1	protein_coding	5/14	-	ENST00000900702.1:c.540G>A	ENSP00000570761.1:p.Gly180%3D	721	540	180	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000900703.1	protein_coding	3/12	-	ENST00000900703.1:c.540G>A	ENSP00000570762.1:p.Gly180%3D	611	540	180	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000915289.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2371	-1	-	HGNC	HGNC:4201	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000954404.1	protein_coding	5/14	-	ENST00000954404.1:c.561G>A	ENSP00000624463.1:p.Gly187%3D	765	561	187	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000954405.1	protein_coding	5/13	-	ENST00000954405.1:c.540G>A	ENSP00000624464.1:p.Gly180%3D	739	540	180	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000954406.1	protein_coding	4/13	-	ENST00000954406.1:c.540G>A	ENSP00000624465.1:p.Gly180%3D	636	540	180	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	synonymous_variant	LOW	DHX58	ENSG00000108771	Transcript	ENST00000954407.1	protein_coding	5/14	-	ENST00000954407.1:c.540G>A	ENSP00000624466.1:p.Gly180%3D	666	540	180	G	ggG/ggA	COSV99288154	C	C/T	-	-1	-	HGNC	HGNC:29517	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000963387.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2369	-1	-	HGNC	HGNC:4201	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000963388.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2367	-1	-	HGNC	HGNC:4201	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000246912.8	protein_coding	-	4/7	ENST00000246912.8:c.438+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000253789.9	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3290	-1	-	HGNC	HGNC:17928	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000346833.8	protein_coding	-	3/6	ENST00000346833.8:c.186+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000393795.8	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3277	-1	-	HGNC	HGNC:17928	YES	MANE_Select	NM_016556.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	COASY	ENSG00000068120	Transcript	ENST00000393818.3	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2756	1	-	HGNC	HGNC:29932	YES	MANE_Select	NM_025233.7	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	COASY	ENSG00000068120	Transcript	ENST00000421097.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2773	1	-	HGNC	HGNC:29932	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000435881.7	protein_coding	-	4/7	ENST00000435881.7:c.276+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	YES	MANE_Select	NM_198204.2	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant,non_coding_transcript_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000585403.5	retained_intron	-	3/4	ENST00000585403.5:n.208+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000586337.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	3863	-1	-	HGNC	HGNC:17928	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant,non_coding_transcript_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000586393.5	retained_intron	-	3/3	ENST00000586393.5:n.555+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000587209.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3310	-1	-	HGNC	HGNC:17928	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant,non_coding_transcript_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000588320.1	retained_intron	-	1/4	ENST00000588320.1:n.867+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	COASY	ENSG00000068120	Transcript	ENST00000588353.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4362	1	-	HGNC	HGNC:29932	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000588544.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	3929	-1	-	HGNC	HGNC:17928	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000589505.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3929	-1	-	HGNC	HGNC:17928	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant,non_coding_transcript_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000590050.5	retained_intron	-	3/5	ENST00000590050.5:n.239+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant,non_coding_transcript_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000590084.5	retained_intron	-	3/3	ENST00000590084.5:n.579+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000590760.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3929	-1	-	HGNC	HGNC:17928	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000590931.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	3929	-1	-	HGNC	HGNC:17928	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	COASY	ENSG00000068120	Transcript	ENST00000590958.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2996	1	-	HGNC	HGNC:29932	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000591024.1	protein_coding	-	3/5	ENST00000591024.1:c.348+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:11645	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000591195.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	135	1	-	HGNC	HGNC:11645	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	COASY	ENSG00000068120	Transcript	ENST00000591583.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2756	1	-	HGNC	HGNC:29932	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	COASY	ENSG00000068120	Transcript	ENST00000591753.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2759	1	-	HGNC	HGNC:29932	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	COASY	ENSG00000068120	Transcript	ENST00000591779.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4140	1	cds_end_NF	HGNC	HGNC:29932	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000592717.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	929	1	-	HGNC	HGNC:11645	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000873680.1	protein_coding	-	3/6	ENST00000873680.1:c.186+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000913726.1	protein_coding	-	2/4	ENST00000913726.1:c.80-474G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000913727.1	protein_coding	-	4/7	ENST00000913727.1:c.264+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000913728.1	protein_coding	-	3/5	ENST00000913728.1:c.169+474G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000913729.1	protein_coding	-	2/5	ENST00000913729.1:c.149+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000913730.1	protein_coding	-	4/7	ENST00000913730.1:c.438+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000913731.1	protein_coding	-	2/5	ENST00000913731.1:c.311+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	intron_variant	MODIFIER	MLX	ENSG00000108788	Transcript	ENST00000948562.1	protein_coding	-	4/7	ENST00000948562.1:c.276+90G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:11645	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	upstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000253789.9	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4233	-1	-	HGNC	HGNC:17928	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	missense_variant	MODERATE	RETREG3	ENSG00000141699	Transcript	ENST00000309428.10	protein_coding	9/9	-	ENST00000309428.10:c.1150C>A	ENSP00000309432.4:p.Leu384Ile	1200	1150	384	L/I	Ctt/Att	-	G	G/T	-	-1	-	HGNC	HGNC:27258	YES	MANE_Select	NM_178126.4	-	1	P3	-	deleterious(0.03)	benign(0.282)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.1465	-	-	-	-
.	17:42582064-42582064	T	upstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000393795.8	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4335	-1	-	HGNC	HGNC:17928	YES	MANE_Select	NM_016556.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	downstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000585726.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	3061	-1	-	HGNC	HGNC:27258	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	missense_variant	MODERATE	RETREG3	ENSG00000141699	Transcript	ENST00000585894.5	protein_coding	9/9	-	ENST00000585894.5:c.859C>A	ENSP00000467847.1:p.Leu287Ile	998	859	287	L/I	Ctt/Att	-	G	G/T	-	-1	-	HGNC	HGNC:27258	-	-	-	-	1	-	-	deleterious(0.03)	benign(0.282)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	upstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000586337.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	4376	-1	-	HGNC	HGNC:17928	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000586870.5	nonsense_mediated_decay	8/8	-	ENST00000586870.5:c.*717C>A	-	1181	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:27258	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	upstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000587209.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4367	-1	-	HGNC	HGNC:17928	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	upstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000587268.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4392	-1	-	HGNC	HGNC:17928	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	downstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000588423.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4704	-1	cds_end_NF	HGNC	HGNC:27258	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	upstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000588544.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	4269	-1	-	HGNC	HGNC:17928	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	downstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000589007.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	671	-1	-	HGNC	HGNC:27258	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	upstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000589505.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4269	-1	-	HGNC	HGNC:17928	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000589797.5	nonsense_mediated_decay	8/8	-	ENST00000589797.5:c.*1302C>A	-	1598	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:27258	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	downstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000590035.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3061	-1	-	HGNC	HGNC:27258	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	upstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000590760.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4368	-1	-	HGNC	HGNC:17928	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	upstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000590931.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	4269	-1	-	HGNC	HGNC:17928	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	downstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000591547.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3137	-1	cds_end_NF	HGNC	HGNC:27258	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	downstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000593251.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	3147	-1	-	HGNC	HGNC:27258	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	downstream_gene_variant	MODIFIER	-	ENSG00000287710	Transcript	ENST00000655617.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3698	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	missense_variant	MODERATE	RETREG3	ENSG00000141699	Transcript	ENST00000875457.1	protein_coding	8/8	-	ENST00000875457.1:c.1141C>A	ENSP00000545516.1:p.Leu381Ile	1181	1141	381	L/I	Ctt/Att	-	G	G/T	-	-1	-	HGNC	HGNC:27258	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	missense_variant	MODERATE	RETREG3	ENSG00000141699	Transcript	ENST00000875458.1	protein_coding	9/9	-	ENST00000875458.1:c.1144C>A	ENSP00000545517.1:p.Leu382Ile	1184	1144	382	L/I	Ctt/Att	-	G	G/T	-	-1	-	HGNC	HGNC:27258	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	missense_variant	MODERATE	RETREG3	ENSG00000141699	Transcript	ENST00000917259.1	protein_coding	7/7	-	ENST00000917259.1:c.1012C>A	ENSP00000587318.1:p.Leu338Ile	1025	1012	338	L/I	Ctt/Att	-	G	G/T	-	-1	-	HGNC	HGNC:27258	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	missense_variant	MODERATE	RETREG3	ENSG00000141699	Transcript	ENST00000955309.1	protein_coding	6/6	-	ENST00000955309.1:c.907C>A	ENSP00000625369.1:p.Leu303Ile	947	907	303	L/I	Ctt/Att	-	G	G/T	-	-1	-	HGNC	HGNC:27258	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000251413.8	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	284	1	-	HGNC	HGNC:12417	YES	MANE_Select	NM_001070.5	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000309428.10	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	25	-1	-	HGNC	HGNC:27258	YES	MANE_Select	NM_178126.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000585726.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	T	T/C	15	-1	-	HGNC	HGNC:27258	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	intron_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000585894.5	protein_coding	-	1/8	ENST00000585894.5:c.-53+1138A>G	-	-	-	-	-	-	-	T	T/C	-	-1	-	HGNC	HGNC:27258	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000586796.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	15	-1	-	HGNC	HGNC:27258	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000586870.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	T	T/C	13	-1	-	HGNC	HGNC:27258	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000588056.2	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	272	1	-	HGNC	HGNC:12417	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	intron_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000588423.1	protein_coding	-	2/4	ENST00000588423.1:c.65+99A>G	-	-	-	-	-	-	-	T	T/C	-	-1	cds_end_NF	HGNC	HGNC:27258	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000589613.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	317	1	-	HGNC	HGNC:12417	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000589688.2	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	T	T/C	290	1	-	HGNC	HGNC:12417	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000589797.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	T	T/C	22	-1	-	HGNC	HGNC:27258	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000590541.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	T	T/C	75	-1	-	HGNC	HGNC:27258	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000591509.5	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	287	1	cds_end_NF	HGNC	HGNC:12417	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	intron_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000591547.5	protein_coding	-	1/6	ENST00000591547.5:c.-148+1138A>G	-	-	-	-	-	-	-	T	T/C	-	-1	cds_end_NF	HGNC	HGNC:27258	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000593251.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	T	T/C	24	-1	-	HGNC	HGNC:27258	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000679484.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	2476	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000680617.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	336	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000680672.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	242	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000680678.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	242	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000681114.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	336	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000681413.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	242	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000681490.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	242	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000681919.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	336	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000681947.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/C	242	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000875457.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	35	-1	-	HGNC	HGNC:27258	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000875458.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	35	-1	-	HGNC	HGNC:27258	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000879460.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	275	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000879461.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	279	1	-	HGNC	HGNC:12417	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000879462.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	287	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000917259.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	62	-1	-	HGNC	HGNC:27258	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000928290.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	270	1	-	HGNC	HGNC:12417	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000928291.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	283	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000951125.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	238	1	-	HGNC	HGNC:12417	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	TUBG1	ENSG00000131462	Transcript	ENST00000951126.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	294	1	-	HGNC	HGNC:12417	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000955309.1	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	35	-1	-	HGNC	HGNC:27258	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42609399-42609399	C	regulatory_region_variant	MODIFIER	-	-	RegulatoryFeature	ENSR17_9LWM5	promoter	-	-	-	-	-	-	-	-	-	-	T	T/C	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:42608683-42609682,17:42609375-42610374	promoter_window,promoter_window	ENSG00000131462_promoter_window,ENSG00000141699_promoter_window	ENSG00000131462.9,ENSG00000141699.11
.	17:42845812-42845812	T	missense_variant	MODERATE	AOC2	ENSG00000131480	Transcript	ENST00000253799.8	protein_coding	1/4	-	ENST00000253799.8:c.1186G>T	ENSP00000253799.2:p.Val396Leu	1233	1186	396	V/L	Gtg/Ttg	-	G	G/T	-	1	-	HGNC	HGNC:549	YES	MANE_Select	NM_009590.4	-	1	P1	-	tolerated(0.16)	possibly_damaging(0.781)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.169	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000293362.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2055	1	-	HGNC	HGNC:9570	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000441946.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2596	1	-	HGNC	HGNC:9570	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	missense_variant	MODERATE	AOC2	ENSG00000131480	Transcript	ENST00000452774.2	protein_coding	1/4	-	ENST00000452774.2:c.1186G>T	ENSP00000406134.1:p.Val396Leu	1212	1186	396	V/L	Gtg/Ttg	-	G	G/T	-	1	-	HGNC	HGNC:549	-	-	-	-	1	-	-	tolerated(0.15)	probably_damaging(0.921)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.169	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000541124.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2054	1	-	HGNC	HGNC:9570	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000543428.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	4117	1	-	HGNC	HGNC:9570	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000545225.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2573	1	-	HGNC	HGNC:9570	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000590720.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2052	1	-	HGNC	HGNC:9570	YES	MANE_Select	NM_005789.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000592169.2	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4141	1	-	HGNC	HGNC:9570	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000905283.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2060	1	-	HGNC	HGNC:9570	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000905284.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2061	1	-	HGNC	HGNC:9570	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000933469.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2052	1	-	HGNC	HGNC:9570	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000933470.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2052	1	-	HGNC	HGNC:9570	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000933471.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2054	1	-	HGNC	HGNC:9570	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000933472.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2060	1	-	HGNC	HGNC:9570	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42845812-42845812	T	downstream_gene_variant	MODIFIER	PSME3	ENSG00000131467	Transcript	ENST00000968130.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2574	1	-	HGNC	HGNC:9570	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	intron_variant	MODIFIER	RUNDC1	ENSG00000198863	Transcript	ENST00000361677.6	protein_coding	-	1/4	ENST00000361677.6:c.498+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25418	YES	MANE_Select	NM_173079.5	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000409446.8	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	824	-1	-	HGNC	HGNC:43943	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000424284.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1593	-1	cds_start_NF	HGNC	HGNC:43943	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000451885.3	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1177	-1	-	HGNC	HGNC:43943	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000462157.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	908	-1	-	HGNC	HGNC:43943	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	intron_variant	MODIFIER	RUNDC1	ENSG00000198863	Transcript	ENST00000589705.1	protein_coding	-	1/3	ENST00000589705.1:c.494+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:25418	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	non_coding_transcript_exon_variant	MODIFIER	RUNDC1	ENSG00000198863	Transcript	ENST00000590836.1	retained_intron	1/1	-	ENST00000590836.1:n.693G>T	-	693	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25418	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000591916.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1177	-1	-	HGNC	HGNC:43943	YES	MANE_Select	NM_001261430.2	-	3	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000872822.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	986	-1	-	HGNC	HGNC:43943	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000872823.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1179	-1	-	HGNC	HGNC:43943	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	intron_variant	MODIFIER	RUNDC1	ENSG00000198863	Transcript	ENST00000903300.1	protein_coding	-	1/4	ENST00000903300.1:c.498+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25418	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	intron_variant	MODIFIER	RUNDC1	ENSG00000198863	Transcript	ENST00000903301.1	protein_coding	-	1/3	ENST00000903301.1:c.498+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25418	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000916932.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	758	-1	-	HGNC	HGNC:43943	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000945107.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	766	-1	-	HGNC	HGNC:43943	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000945108.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	769	-1	-	HGNC	HGNC:43943	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000945109.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1181	-1	-	HGNC	HGNC:43943	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000945110.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1149	-1	-	HGNC	HGNC:43943	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000945111.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1179	-1	-	HGNC	HGNC:43943	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000945112.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1181	-1	-	HGNC	HGNC:43943	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42981257-42981257	T	intron_variant	MODIFIER	RUNDC1	ENSG00000198863	Transcript	ENST00000954068.1	protein_coding	-	1/3	ENST00000954068.1:c.498+183G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25418	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000355653.8	protein_coding	2/6	-	ENST00000355653.8:c.573C>A	ENSP00000347872.2:p.Ser191Arg	636	573	191	S/R	agC/agA	-	G	G/T	-	-1	-	HGNC	HGNC:16919	YES	MANE_Select	NM_006373.4	-	1	P2	-	deleterious(0)	benign(0.043)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6867	-	-	-	-
.	17:43018614-43018614	T	downstream_gene_variant	MODIFIER	IFI35	ENSG00000068079	Transcript	ENST00000415816.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4158	1	-	HGNC	HGNC:5399	YES	MANE_Select	NM_001330230.2	-	5	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000420567.7	protein_coding	2/6	-	ENST00000420567.7:c.171C>A	ENSP00000408553.2:p.Ser57Arg	317	171	57	S/R	agC/agA	-	G	G/T	-	-1	-	HGNC	HGNC:16919	-	-	-	-	2	-	-	tolerated(0.06)	benign(0.043)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	downstream_gene_variant	MODIFIER	IFI35	ENSG00000068079	Transcript	ENST00000438323.2	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4158	1	-	HGNC	HGNC:5399	-	-	-	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	downstream_gene_variant	MODIFIER	IFI35	ENSG00000068079	Transcript	ENST00000534876.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4955	1	-	HGNC	HGNC:5399	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	downstream_gene_variant	MODIFIER	IFI35	ENSG00000068079	Transcript	ENST00000546325.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4966	1	-	HGNC	HGNC:5399	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	downstream_gene_variant	MODIFIER	VAT1	ENSG00000108828	Transcript	ENST00000587062.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	135	-1	cds_end_NF	HGNC	HGNC:16919	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	upstream_gene_variant	MODIFIER	VAT1	ENSG00000108828	Transcript	ENST00000587147.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	569	-1	cds_start_NF	HGNC	HGNC:16919	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000587173.5	protein_coding	2/6	-	ENST00000587173.5:c.369C>A	ENSP00000465946.1:p.Ser123Arg	403	369	123	S/R	agC/agA	-	G	G/T	-	-1	-	HGNC	HGNC:16919	-	-	-	-	2	-	-	deleterious(0.03)	probably_damaging(0.966)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000589709.1	protein_coding	2/4	-	ENST00000589709.1:c.171C>A	ENSP00000467131.1:p.Ser57Arg	288	171	57	S/R	agC/agA	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:16919	-	-	-	-	4	-	-	tolerated(0.08)	benign(0.043)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000589828.1	protein_coding	1/2	-	ENST00000589828.1:c.171C>A	ENSP00000468146.1:p.Ser57Arg	414	171	57	S/R	agC/agA	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:16919	-	-	-	-	2	-	-	tolerated(0.06)	benign(0.043)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000590924.5	protein_coding	2/4	-	ENST00000590924.5:c.171C>A	ENSP00000466322.1:p.Ser57Arg	321	171	57	S/R	agC/agA	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:16919	-	-	-	-	3	-	-	tolerated(0.07)	benign(0.006)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	upstream_gene_variant	MODIFIER	VAT1	ENSG00000108828	Transcript	ENST00000592388.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	2301	-1	cds_start_NF	HGNC	HGNC:16919	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000867390.1	protein_coding	2/6	-	ENST00000867390.1:c.573C>A	ENSP00000537449.1:p.Ser191Arg	666	573	191	S/R	agC/agA	-	G	G/T	-	-1	-	HGNC	HGNC:16919	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6867	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000867391.1	protein_coding	2/5	-	ENST00000867391.1:c.573C>A	ENSP00000537450.1:p.Ser191Arg	618	573	191	S/R	agC/agA	-	G	G/T	-	-1	-	HGNC	HGNC:16919	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6867	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000917596.1	protein_coding	2/6	-	ENST00000917596.1:c.573C>A	ENSP00000587655.1:p.Ser191Arg	672	573	191	S/R	agC/agA	-	G	G/T	-	-1	-	HGNC	HGNC:16919	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6867	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000917597.1	protein_coding	2/5	-	ENST00000917597.1:c.573C>A	ENSP00000587656.1:p.Ser191Arg	647	573	191	S/R	agC/agA	-	G	G/T	-	-1	-	HGNC	HGNC:16919	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6867	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000943217.1	protein_coding	2/7	-	ENST00000943217.1:c.573C>A	ENSP00000613276.1:p.Ser191Arg	631	573	191	S/R	agC/agA	-	G	G/T	-	-1	-	HGNC	HGNC:16919	-	-	-	-	-	P2	-	deleterious(0)	benign(0.043)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6867	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000943218.1	protein_coding	2/6	-	ENST00000943218.1:c.369C>A	ENSP00000613277.1:p.Ser123Arg	462	369	123	S/R	agC/agA	-	G	G/T	-	-1	-	HGNC	HGNC:16919	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43018614-43018614	T	missense_variant	MODERATE	VAT1	ENSG00000108828	Transcript	ENST00000943219.1	protein_coding	2/6	-	ENST00000943219.1:c.573C>A	ENSP00000613278.1:p.Ser191Arg	639	573	191	S/R	agC/agA	-	G	G/T	-	-1	-	HGNC	HGNC:16919	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6867	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000352993.7	protein_coding	-	12/21	ENST00000352993.7:c.1058+181_1058+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000357654.9	protein_coding	-	13/22	ENST00000357654.9:c.4484+181_4484+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	YES	MANE_Select	NM_007294.4	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant,NMD_transcript_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000461221.5	nonsense_mediated_decay	-	13/22	ENST00000461221.5:c.*4267+181_*4267+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000461574.2	protein_coding	-	13/22	ENST00000461574.2:c.4481+181_4481+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	2	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000468300.5	protein_coding	-	13/21	ENST00000468300.5:c.1172+181_1172+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000470026.6	protein_coding	-	13/22	ENST00000470026.6:c.4484+181_4484+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000471181.7	protein_coding	-	14/23	ENST00000471181.7:c.4547+181_4547+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000473961.6	protein_coding	-	11/20	ENST00000473961.6:c.4358+181_4358+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	2	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000476777.6	protein_coding	-	13/22	ENST00000476777.6:c.4478+181_4478+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	5	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000477152.6	protein_coding	-	12/21	ENST00000477152.6:c.4406+181_4406+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000478531.6	protein_coding	-	13/22	ENST00000478531.6:c.1172+181_1172+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000484087.6	protein_coding	-	11/20	ENST00000484087.6:c.1046+181_1046+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000489037.2	protein_coding	-	12/21	ENST00000489037.2:c.4406+181_4406+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000491747.6	protein_coding	-	13/22	ENST00000491747.6:c.1172+181_1172+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000493795.5	protein_coding	-	12/21	ENST00000493795.5:c.4343+181_4343+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000493919.6	protein_coding	-	12/21	ENST00000493919.6:c.1034+181_1034+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000494123.6	protein_coding	-	13/22	ENST00000494123.6:c.4484+181_4484+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000497488.2	protein_coding	-	5/14	ENST00000497488.2:c.3596+181_3596+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	upstream_gene_variant	MODIFIER	RPL21P4	ENSG00000240828	Transcript	ENST00000497954.1	processed_pseudogene	-	-	-	-	-	-	-	-	-	rs773857297	TA	TTA/T	2995	1	-	HGNC	HGNC:17959	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000586385.5	protein_coding	-	1/7	ENST00000586385.5:c.5-12356_5-12355del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000591534.5	protein_coding	-	1/10	ENST00000591534.5:c.-43-1786_-43-1785del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000591849.5	protein_coding	-	1/4	ENST00000591849.5:c.-98-26117_-98-26116del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000618469.2	protein_coding	-	13/22	ENST00000618469.2:c.4484+181_4484+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	downstream_gene_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000621897.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs773857297	TA	TTA/T	181	-1	-	HGNC	HGNC:1100	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000634433.2	protein_coding	-	11/20	ENST00000634433.2:c.4361+181_4361+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	5	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000644379.2	protein_coding	-	14/23	ENST00000644379.2:c.4550+181_4550+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000644555.2	protein_coding	-	14/23	ENST00000644555.2:c.1034+181_1034+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000652672.2	protein_coding	-	14/23	ENST00000652672.2:c.4343+181_4343+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000700182.1	protein_coding	-	12/13	ENST00000700182.1:c.1091+181_1091+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000713676.1	protein_coding	-	13/22	ENST00000713676.1:c.4484+181_4484+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000899954.1	protein_coding	-	11/20	ENST00000899954.1:c.1046+181_1046+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000921914.1	protein_coding	-	13/22	ENST00000921914.1:c.1172+181_1172+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000921915.1	protein_coding	-	13/22	ENST00000921915.1:c.1172+181_1172+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000921916.1	protein_coding	-	13/22	ENST00000921916.1:c.1172+181_1172+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000945268.1	protein_coding	-	13/22	ENST00000945268.1:c.4481+181_4481+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43076305-43076307	-	intron_variant	MODIFIER	BRCA1	ENSG00000012048	Transcript	ENST00000945269.1	protein_coding	-	13/22	ENST00000945269.1:c.1172+181_1172+182del	-	-	-	-	-	-	rs773857297	TA	TTA/T	-	-1	-	HGNC	HGNC:1100	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.0005191	0.0002409	0	0.000131	0	0	0	0	0.0009706	0.000473	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43400439-43400439	T	3_prime_UTR_variant	MODIFIER	ARL4D	ENSG00000175906	Transcript	ENST00000320033.5	protein_coding	2/2	-	ENST00000320033.5:c.*101G>T	-	880	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:656	YES	MANE_Select	NM_001661.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43400439-43400439	T	upstream_gene_variant	MODIFIER	RNU6-1137P	ENSG00000252882	Transcript	ENST00000517073.1	snRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4348	-1	-	HGNC	HGNC:48100	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43400439-43400439	T	3_prime_UTR_variant	MODIFIER	ARL4D	ENSG00000175906	Transcript	ENST00000869170.1	protein_coding	2/2	-	ENST00000869170.1:c.*101G>T	-	1035	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:656	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43400439-43400439	T	3_prime_UTR_variant	MODIFIER	ARL4D	ENSG00000175906	Transcript	ENST00000869171.1	protein_coding	2/2	-	ENST00000869171.1:c.*101G>T	-	842	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:656	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43400439-43400439	T	3_prime_UTR_variant	MODIFIER	ARL4D	ENSG00000175906	Transcript	ENST00000936185.1	protein_coding	2/2	-	ENST00000936185.1:c.*101G>T	-	871	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:656	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43400439-43400439	T	3_prime_UTR_variant	MODIFIER	ARL4D	ENSG00000175906	Transcript	ENST00000936186.1	protein_coding	2/2	-	ENST00000936186.1:c.*101G>T	-	821	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:656	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43489568-43489568	G	intron_variant	MODIFIER	DHX8	ENSG00000067596	Transcript	ENST00000262415.8	protein_coding	-	2/22	ENST00000262415.8:c.234+34T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:2749	YES	MANE_Select	NM_004941.3	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43489568-43489568	G	intron_variant	MODIFIER	DHX8	ENSG00000067596	Transcript	ENST00000540306.5	protein_coding	-	2/22	ENST00000540306.5:c.234+34T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:2749	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43489568-43489568	G	upstream_gene_variant	MODIFIER	DHX8	ENSG00000067596	Transcript	ENST00000587044.1	retained_intron	-	-	-	-	-	-	-	-	-	-	T	T/G	1626	1	-	HGNC	HGNC:2749	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43489568-43489568	G	intron_variant	MODIFIER	DHX8	ENSG00000067596	Transcript	ENST00000589898.2	protein_coding	-	2/23	ENST00000589898.2:c.234+34T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:2749	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43489568-43489568	G	intron_variant,NMD_transcript_variant	MODIFIER	DHX8	ENSG00000067596	Transcript	ENST00000592258.5	nonsense_mediated_decay	-	1/3	ENST00000592258.5:c.149-823T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:2749	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43489568-43489568	G	intron_variant,non_coding_transcript_variant	MODIFIER	DHX8	ENSG00000067596	Transcript	ENST00000605777.1	retained_intron	-	2/2	ENST00000605777.1:n.132+34T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:2749	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43489568-43489568	G	intron_variant,NMD_transcript_variant	MODIFIER	DHX8	ENSG00000067596	Transcript	ENST00000650571.1	nonsense_mediated_decay	-	2/24	ENST00000650571.1:c.234+34T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:2749	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43489568-43489568	G	intron_variant	MODIFIER	DHX8	ENSG00000067596	Transcript	ENST00000872044.1	protein_coding	-	2/21	ENST00000872044.1:c.234+34T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:2749	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43489568-43489568	G	intron_variant	MODIFIER	DHX8	ENSG00000067596	Transcript	ENST00000872045.1	protein_coding	-	2/22	ENST00000872045.1:c.234+34T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:2749	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43489568-43489568	G	intron_variant	MODIFIER	DHX8	ENSG00000067596	Transcript	ENST00000958204.1	protein_coding	-	2/22	ENST00000958204.1:c.234+34T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:2749	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43489568-43489568	G	intron_variant	MODIFIER	DHX8	ENSG00000067596	Transcript	ENST00000958205.1	protein_coding	-	2/23	ENST00000958205.1:c.234+34T>G	-	-	-	-	-	-	-	T	T/G	-	1	-	HGNC	HGNC:2749	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43829505-43829505	A	intron_variant	MODIFIER	MPP3	ENSG00000161647	Transcript	ENST00000398389.9	protein_coding	-	7/19	ENST00000398389.9:c.441+149G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:7221	YES	MANE_Select	NM_001932.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43829505-43829505	A	intron_variant	MODIFIER	MPP3	ENSG00000161647	Transcript	ENST00000398393.5	protein_coding	-	5/17	ENST00000398393.5:c.516+149G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:7221	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43829505-43829505	A	intron_variant,non_coding_transcript_variant	MODIFIER	MPP3	ENSG00000161647	Transcript	ENST00000480958.1	retained_intron	-	4/5	ENST00000480958.1:n.372+149G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:7221	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43829505-43829505	A	intron_variant,NMD_transcript_variant	MODIFIER	MPP3	ENSG00000161647	Transcript	ENST00000496503.5	nonsense_mediated_decay	-	7/18	ENST00000496503.5:c.441+149G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:7221	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43829505-43829505	A	intron_variant,non_coding_transcript_variant	MODIFIER	MPP3	ENSG00000161647	Transcript	ENST00000589375.5	retained_intron	-	8/12	ENST00000589375.5:n.756+149G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:7221	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43829505-43829505	A	upstream_gene_variant	MODIFIER	-	ENSG00000302186	Transcript	ENST00000784836.1	lncRNA	-	-	-	-	-	-	-	-	-	-	C	C/A	4157	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43829505-43829505	A	intron_variant	MODIFIER	MPP3	ENSG00000161647	Transcript	ENST00000908431.1	protein_coding	-	7/17	ENST00000908431.1:c.441+149G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:7221	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000269095.9	protein_coding	12/13	-	ENST00000269095.9:c.1369C>T	ENSP00000269095.4:p.Arg457Ter	1465	1369	457	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	YES	MANE_Select	NM_005374.5	-	1	P4	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000377184.7	protein_coding	11/12	-	ENST00000377184.7:c.1420C>T	ENSP00000366389.3:p.Arg474Ter	1466	1420	474	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	1	A1	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000461854.5	protein_coding	13/14	-	ENST00000461854.5:c.1441C>T	ENSP00000428286.1:p.Arg481Ter	1527	1441	481	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	1	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	downstream_gene_variant	MODIFIER	MPP2	ENSG00000108852	Transcript	ENST00000473246.5	protein_coding	-	-	-	-	-	-	-	-	-	rs754463406,COSV52235759	G	G/A	2986	-1	cds_end_NF	HGNC	HGNC:7220	-	-	-	-	3	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000518766.5	protein_coding	12/13	-	ENST00000518766.5:c.1504C>T	ENSP00000428182.1:p.Arg502Ter	1561	1504	502	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	2	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	downstream_gene_variant	MODIFIER	MPP2	ENSG00000108852	Transcript	ENST00000520241.5	protein_coding	-	-	-	-	-	-	-	-	-	rs754463406,COSV52235759	G	G/A	3555	-1	cds_end_NF	HGNC	HGNC:7220	-	-	-	-	4	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000520305.5	protein_coding	11/12	-	ENST00000520305.5:c.952C>T	ENSP00000428136.1:p.Arg318Ter	1346	952	318	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	2	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	downstream_gene_variant	MODIFIER	MPP2	ENSG00000108852	Transcript	ENST00000520319.1	retained_intron	-	-	-	-	-	-	-	-	-	rs754463406,COSV52235759	G	G/A	3055	-1	-	HGNC	HGNC:7220	-	-	-	-	2	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	downstream_gene_variant	MODIFIER	MPP2	ENSG00000108852	Transcript	ENST00000520406.5	protein_coding	-	-	-	-	-	-	-	-	-	rs754463406,COSV52235759	G	G/A	3515	-1	cds_end_NF	HGNC	HGNC:7220	-	-	-	-	4	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	downstream_gene_variant	MODIFIER	MPP2	ENSG00000108852	Transcript	ENST00000521178.5	protein_coding	-	-	-	-	-	-	-	-	-	rs754463406,COSV52235759	G	G/A	3590	-1	cds_end_NF	HGNC	HGNC:7220	-	-	-	-	4	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	downstream_gene_variant	MODIFIER	MPP2	ENSG00000108852	Transcript	ENST00000522172.5	protein_coding	-	-	-	-	-	-	-	-	-	rs754463406,COSV52235759	G	G/A	3898	-1	cds_end_NF	HGNC	HGNC:7220	-	-	-	-	4	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	downstream_gene_variant	MODIFIER	MPP2	ENSG00000108852	Transcript	ENST00000523220.5	protein_coding	-	-	-	-	-	-	-	-	-	rs754463406,COSV52235759	G	G/A	2957	-1	cds_end_NF	HGNC	HGNC:7220	-	-	-	-	1	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000523501.5	protein_coding	11/12	-	ENST00000523501.5:c.1336C>T	ENSP00000430540.1:p.Arg446Ter	1401	1336	446	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	2	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	downstream_gene_variant	MODIFIER	MPP2	ENSG00000108852	Transcript	ENST00000523762.5	protein_coding	-	-	-	-	-	-	-	-	-	rs754463406,COSV52235759	G	G/A	3515	-1	cds_end_NF	HGNC	HGNC:7220	-	-	-	-	5	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	downstream_gene_variant	MODIFIER	MPP2	ENSG00000108852	Transcript	ENST00000523934.5	protein_coding	-	-	-	-	-	-	-	-	-	rs754463406,COSV52235759	G	G/A	3522	-1	cds_end_NF	HGNC	HGNC:7220	-	-	-	-	4	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	downstream_gene_variant	MODIFIER	MPP2	ENSG00000108852	Transcript	ENST00000524294.5	protein_coding	-	-	-	-	-	-	-	-	-	rs754463406,COSV52235759	G	G/A	3631	-1	cds_end_NF	HGNC	HGNC:7220	-	-	-	-	4	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000536246.5	protein_coding	11/12	-	ENST00000536246.5:c.1336C>T	ENSP00000438012.1:p.Arg446Ter	1617	1336	446	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	2	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000612133.4	protein_coding	13/14	-	ENST00000612133.4:c.1369C>T	ENSP00000478528.1:p.Arg457Ter	2204	1369	457	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	5	P4	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000622681.4	protein_coding	11/12	-	ENST00000622681.4:c.1336C>T	ENSP00000480071.1:p.Arg446Ter	1508	1336	446	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	5	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000881428.1	protein_coding	12/13	-	ENST00000881428.1:c.1369C>T	ENSP00000551488.1:p.Arg457Ter	3332	1369	457	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	-	P4	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000881432.1	protein_coding	12/13	-	ENST00000881432.1:c.1369C>T	ENSP00000551491.1:p.Arg457Ter	1592	1369	457	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	-	P4	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000967291.1	protein_coding	12/13	-	ENST00000967291.1:c.1429C>T	ENSP00000637350.1:p.Arg477Ter	1532	1429	477	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	-	-	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000967292.1	protein_coding	12/13	-	ENST00000967292.1:c.1369C>T	ENSP00000637351.1:p.Arg457Ter	1465	1369	457	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	-	A1	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000967293.1	protein_coding	12/13	-	ENST00000967293.1:c.1369C>T	ENSP00000637352.1:p.Arg457Ter	1575	1369	457	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	-	P4	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:43879388-43879388	A	stop_gained	HIGH	MPP2	ENSG00000108852	Transcript	ENST00000967294.1	protein_coding	13/14	-	ENST00000967294.1:c.1369C>T	ENSP00000637353.1:p.Arg457Ter	1820	1369	457	R/*	Cga/Tga	rs754463406,COSV52235759	G	G/A	-	-1	-	HGNC	HGNC:7220	-	-	-	-	-	P4	-	-	-	-	7.525e-06	0	4.472e-05	0	0	0	0	8.094e-06	0	0	6.571e-06	0	0	0	0	0	0	0	1.47e-05	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:44666462-44666462	T	missense_variant	MODERATE	MEIOC	ENSG00000180336	Transcript	ENST00000409122.7	protein_coding	5/8	-	ENST00000409122.7:c.551G>T	ENSP00000386452.1:p.Arg184Met	697	551	184	R/M	aGg/aTg	-	G	G/T	-	1	-	HGNC	HGNC:26670	YES	MANE_Select	NM_001145080.3	-	5	A2	-	deleterious(0)	probably_damaging(0.984)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2621	-	-	-	-
.	17:44666462-44666462	T	missense_variant	MODERATE	MEIOC	ENSG00000180336	Transcript	ENST00000409464.1	protein_coding	2/3	-	ENST00000409464.1:c.53G>T	ENSP00000386586.1:p.Arg18Met	458	53	18	R/M	aGg/aTg	-	G	G/T	-	1	-	HGNC	HGNC:26670	-	-	-	-	2	-	-	deleterious(0)	probably_damaging(0.993)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44666462-44666462	T	downstream_gene_variant	MODIFIER	MEIOC	ENSG00000180336	Transcript	ENST00000425535.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4072	1	cds_end_NF	HGNC	HGNC:26670	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44666462-44666462	T	missense_variant	MODERATE	MEIOC	ENSG00000180336	Transcript	ENST00000432494.1	protein_coding	2/2	-	ENST00000432494.1:c.53G>T	ENSP00000399809.1:p.Arg18Met	121	53	18	R/M	aGg/aTg	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:26670	-	-	-	-	2	-	-	deleterious(0)	probably_damaging(0.984)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44666462-44666462	T	missense_variant	MODERATE	MEIOC	ENSG00000180336	Transcript	ENST00000456912.1	protein_coding	3/3	-	ENST00000456912.1:c.53G>T	ENSP00000397957.1:p.Arg18Met	218	53	18	R/M	aGg/aTg	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:26670	-	-	-	-	2	-	-	deleterious(0)	probably_damaging(0.984)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44666462-44666462	T	upstream_gene_variant	MODIFIER	MEIOC	ENSG00000180336	Transcript	ENST00000472403.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	1760	1	cds_start_NF	HGNC	HGNC:26670	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44666462-44666462	T	missense_variant	MODERATE	MEIOC	ENSG00000180336	Transcript	ENST00000856682.1	protein_coding	4/7	-	ENST00000856682.1:c.446G>T	ENSP00000526741.1:p.Arg149Met	613	446	149	R/M	aGg/aTg	-	G	G/T	-	1	-	HGNC	HGNC:26670	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44731060-44731060	T	intron_variant	MODIFIER	DBF4B	ENSG00000161692	Transcript	ENST00000315005.8	protein_coding	-	5/13	ENST00000315005.8:c.468+45G>T	-	-	-	-	-	-	COSV100154449	G	G/T	-	1	-	HGNC	HGNC:17883	YES	MANE_Select	NM_145663.3	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:44731060-44731060	T	intron_variant	MODIFIER	DBF4B	ENSG00000161692	Transcript	ENST00000393547.6	protein_coding	-	5/14	ENST00000393547.6:c.468+45G>T	-	-	-	-	-	-	COSV100154449	G	G/T	-	1	-	HGNC	HGNC:17883	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:44731060-44731060	T	non_coding_transcript_exon_variant	MODIFIER	DBF4B	ENSG00000161692	Transcript	ENST00000525140.5	retained_intron	5/5	-	ENST00000525140.5:n.589G>T	-	589	-	-	-	-	COSV100154449	G	G/T	-	1	-	HGNC	HGNC:17883	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:44731060-44731060	T	intron_variant,non_coding_transcript_variant	MODIFIER	DBF4B	ENSG00000161692	Transcript	ENST00000526915.5	protein_coding_CDS_not_defined	-	4/4	ENST00000526915.5:n.498+45G>T	-	-	-	-	-	-	COSV100154449	G	G/T	-	1	-	HGNC	HGNC:17883	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:44731060-44731060	T	intron_variant,NMD_transcript_variant	MODIFIER	DBF4B	ENSG00000161692	Transcript	ENST00000526924.5	nonsense_mediated_decay	-	5/11	ENST00000526924.5:c.468+45G>T	-	-	-	-	-	-	COSV100154449	G	G/T	-	1	-	HGNC	HGNC:17883	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:44731060-44731060	T	upstream_gene_variant	MODIFIER	DBF4B	ENSG00000161692	Transcript	ENST00000527862.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV100154449	G	G/T	2599	1	-	HGNC	HGNC:17883	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:44731060-44731060	T	non_coding_transcript_exon_variant	MODIFIER	DBF4B	ENSG00000161692	Transcript	ENST00000528353.5	retained_intron	5/5	-	ENST00000528353.5:n.678G>T	-	678	-	-	-	-	COSV100154449	G	G/T	-	1	-	HGNC	HGNC:17883	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:44731060-44731060	T	non_coding_transcript_exon_variant	MODIFIER	DBF4B	ENSG00000161692	Transcript	ENST00000528766.5	retained_intron	5/5	-	ENST00000528766.5:n.678G>T	-	678	-	-	-	-	COSV100154449	G	G/T	-	1	-	HGNC	HGNC:17883	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:44731060-44731060	T	non_coding_transcript_exon_variant	MODIFIER	DBF4B	ENSG00000161692	Transcript	ENST00000531699.5	retained_intron	4/4	-	ENST00000531699.5:n.524G>T	-	524	-	-	-	-	COSV100154449	G	G/T	-	1	-	HGNC	HGNC:17883	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:44731060-44731060	T	non_coding_transcript_exon_variant	MODIFIER	DBF4B	ENSG00000161692	Transcript	ENST00000532789.1	retained_intron	5/5	-	ENST00000532789.1:n.571G>T	-	571	-	-	-	-	COSV100154449	G	G/T	-	1	-	HGNC	HGNC:17883	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:44731060-44731060	T	downstream_gene_variant	MODIFIER	-	ENSG00000307700	Transcript	ENST00000828036.1	lncRNA	-	-	-	-	-	-	-	-	-	COSV100154449	G	G/T	4892	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:44777930-44777930	G	intron_variant	MODIFIER	ADAM11	ENSG00000073670	Transcript	ENST00000200557.11	protein_coding	-	23/26	ENST00000200557.11:c.2071-22C>G	-	-	-	-	-	-	-	C	C/G	-	1	-	HGNC	HGNC:189	YES	MANE_Select	NM_002390.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44777930-44777930	G	intron_variant,NMD_transcript_variant	MODIFIER	ADAM11	ENSG00000073670	Transcript	ENST00000355638.8	nonsense_mediated_decay	-	23/26	ENST00000355638.8:c.*1341-22C>G	-	-	-	-	-	-	-	C	C/G	-	1	-	HGNC	HGNC:189	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44777930-44777930	G	intron_variant	MODIFIER	ADAM11	ENSG00000073670	Transcript	ENST00000535346.5	protein_coding	-	23/26	ENST00000535346.5:c.1471-22C>G	-	-	-	-	-	-	-	C	C/G	-	1	-	HGNC	HGNC:189	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44777930-44777930	G	intron_variant,NMD_transcript_variant	MODIFIER	ADAM11	ENSG00000073670	Transcript	ENST00000587773.1	nonsense_mediated_decay	-	20/23	ENST00000587773.1:c.*209-22C>G	-	-	-	-	-	-	-	C	C/G	-	1	cds_start_NF	HGNC	HGNC:189	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44777930-44777930	G	downstream_gene_variant	MODIFIER	ADAM11	ENSG00000073670	Transcript	ENST00000588363.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/G	128	1	-	HGNC	HGNC:189	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44777930-44777930	G	downstream_gene_variant	MODIFIER	-	ENSG00000267405	Transcript	ENST00000591137.2	lncRNA	-	-	-	-	-	-	-	-	-	-	C	C/G	4181	-1	-	-	-	YES	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44777930-44777930	G	upstream_gene_variant	MODIFIER	-	ENSG00000267505	Transcript	ENST00000778545.1	lncRNA	-	-	-	-	-	-	-	-	-	-	C	C/G	4290	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44777930-44777930	G	upstream_gene_variant	MODIFIER	-	ENSG00000267505	Transcript	ENST00000778546.1	lncRNA	-	-	-	-	-	-	-	-	-	-	C	C/G	4381	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44777930-44777930	G	upstream_gene_variant	MODIFIER	-	ENSG00000267505	Transcript	ENST00000778547.1	lncRNA	-	-	-	-	-	-	-	-	-	-	C	C/G	4388	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44777930-44777930	G	upstream_gene_variant	MODIFIER	-	ENSG00000267505	Transcript	ENST00000778548.1	lncRNA	-	-	-	-	-	-	-	-	-	-	C	C/G	4574	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44777930-44777930	G	intron_variant	MODIFIER	ADAM11	ENSG00000073670	Transcript	ENST00000952530.1	protein_coding	-	21/24	ENST00000952530.1:c.1927-22C>G	-	-	-	-	-	-	-	C	C/G	-	1	-	HGNC	HGNC:189	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	HIGD1B	ENSG00000131097	Transcript	ENST00000253410.3	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	425	1	-	HGNC	HGNC:24318	YES	MANE_Select	NM_016438.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000402521.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	219	-1	-	HGNC	HGNC:30858	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	3_prime_UTR_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000426333.7	protein_coding	28/28	-	ENST00000426333.7:c.*373C>A	-	3373	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	YES	MANE_Select	NM_004247.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	non_coding_transcript_exon_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000586276.5	retained_intron	11/11	-	ENST00000586276.5:n.3587C>A	-	3587	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	HIGD1B	ENSG00000131097	Transcript	ENST00000586911.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	425	1	cds_start_NF	HGNC	HGNC:24318	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	HIGD1B	ENSG00000131097	Transcript	ENST00000587021.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	425	1	-	HGNC	HGNC:24318	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000588340.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4074	-1	-	HGNC	HGNC:30858	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000589769.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	356	-1	cds_start_NF	HGNC	HGNC:30858	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000590124.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	146	-1	cds_start_NF	HGNC	HGNC:30858	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000590367.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	15	-1	-	HGNC	HGNC:30858	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	HIGD1B	ENSG00000131097	Transcript	ENST00000590423.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	1688	1	-	HGNC	HGNC:24318	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000590977.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	16	-1	-	HGNC	HGNC:30858	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000591382.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	15	-1	-	HGNC	HGNC:30858	-	-	-	-	2	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	HIGD1B	ENSG00000131097	Transcript	ENST00000591513.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	425	1	-	HGNC	HGNC:24318	-	-	-	-	2	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	3_prime_UTR_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000592576.5	protein_coding	28/28	-	ENST00000592576.5:c.*373C>A	-	3329	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	HIGD1B	ENSG00000131097	Transcript	ENST00000856247.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	421	1	-	HGNC	HGNC:24318	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	HIGD1B	ENSG00000131097	Transcript	ENST00000856248.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	425	1	-	HGNC	HGNC:24318	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	HIGD1B	ENSG00000131097	Transcript	ENST00000856249.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	425	1	-	HGNC	HGNC:24318	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	3_prime_UTR_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000880573.1	protein_coding	26/26	-	ENST00000880573.1:c.*373C>A	-	3365	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	3_prime_UTR_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000880574.1	protein_coding	28/28	-	ENST00000880574.1:c.*373C>A	-	3325	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000880575.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	16	-1	-	HGNC	HGNC:30858	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000880576.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	17	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000880577.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	14	-1	-	HGNC	HGNC:30858	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	HIGD1B	ENSG00000131097	Transcript	ENST00000923560.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	426	1	-	HGNC	HGNC:24318	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000925102.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	15	-1	-	HGNC	HGNC:30858	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000925103.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	12	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000925104.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	10	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000925105.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	10	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	HIGD1B	ENSG00000131097	Transcript	ENST00000954975.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	429	1	-	HGNC	HGNC:24318	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969863.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	10	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969864.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	10	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969865.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	10	-1	-	HGNC	HGNC:30858	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969866.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	14	-1	-	HGNC	HGNC:30858	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969867.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	16	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969868.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	16	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969869.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	17	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000402521.7	protein_coding	-	10/26	ENST00000402521.7:c.890-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000426333.7	protein_coding	-	11/27	ENST00000426333.7:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	YES	MANE_Select	NM_004247.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	upstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000585616.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	3202	-1	-	HGNC	HGNC:30858	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	upstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000585794.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3238	-1	-	HGNC	HGNC:30858	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	upstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000586276.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4875	-1	-	HGNC	HGNC:30858	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	upstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000586654.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	71	-1	-	HGNC	HGNC:30858	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	upstream_gene_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000587914.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4408	-1	-	HGNC	HGNC:30858	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant,non_coding_transcript_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000590367.5	retained_intron	-	1/16	ENST00000590367.5:n.723-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000591382.5	protein_coding	-	11/27	ENST00000591382.5:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	2	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	missense_variant,NMD_transcript_variant	MODERATE	EFTUD2	ENSG00000108883	Transcript	ENST00000591856.1	nonsense_mediated_decay	2/4	-	ENST00000591856.1:c.91C>A	ENSP00000468284.1:p.Pro31Thr	91	91	31	P/T	Cct/Act	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:30858	-	-	-	-	3	-	-	-	unknown(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000592576.5	protein_coding	-	11/27	ENST00000592576.5:c.965-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000880573.1	protein_coding	-	10/25	ENST00000880573.1:c.870-573C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000880574.1	protein_coding	-	11/27	ENST00000880574.1:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000880575.1	protein_coding	-	12/28	ENST00000880575.1:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000880576.1	protein_coding	-	11/27	ENST00000880576.1:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000880577.1	protein_coding	-	12/28	ENST00000880577.1:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000925102.1	protein_coding	-	11/27	ENST00000925102.1:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000925103.1	protein_coding	-	10/26	ENST00000925103.1:c.959-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000925104.1	protein_coding	-	11/26	ENST00000925104.1:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000925105.1	protein_coding	-	11/27	ENST00000925105.1:c.932-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969863.1	protein_coding	-	11/26	ENST00000969863.1:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969864.1	protein_coding	-	11/27	ENST00000969864.1:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969865.1	protein_coding	-	11/27	ENST00000969865.1:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969866.1	protein_coding	-	12/28	ENST00000969866.1:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969867.1	protein_coding	-	11/26	ENST00000969867.1:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969868.1	protein_coding	-	11/27	ENST00000969868.1:c.995-120C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44868470-44868470	T	intron_variant	MODIFIER	EFTUD2	ENSG00000108883	Transcript	ENST00000969869.1	protein_coding	-	10/24	ENST00000969869.1:c.870-573C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:30858	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000253408.11	protein_coding	-	8/9	ENST00000253408.11:c.1292-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	FAM187A	ENSG00000214447	Transcript	ENST00000331733.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2805	1	-	HGNC	HGNC:35153	YES	MANE_Select	NM_001258400.2	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000376990.8	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	3108	-1	-	HGNC	HGNC:4235	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	DNAAF19	ENSG00000167131	Transcript	ENST00000417826.3	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2805	1	-	HGNC	HGNC:32700	YES	MANE_Select	NM_213607.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000435360.8	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1477	-1	-	HGNC	HGNC:4235	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant,non_coding_transcript_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000441312.2	protein_coding_CDS_not_defined	-	1/4	ENST00000441312.2:n.25-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant,non_coding_transcript_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000585543.6	retained_intron	-	2/3	ENST00000585543.6:n.325-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000586125.2	protein_coding	-	2/2	ENST00000586125.2:c.107-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:4235	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000586127.6	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2442	-1	-	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000586793.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2452	-1	cds_end_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000587997.6	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	2458	-1	-	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000588316.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3502	-1	cds_end_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant,non_coding_transcript_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000588640.5	protein_coding_CDS_not_defined	-	4/4	ENST00000588640.5:n.552-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000588735.3	protein_coding	-	7/8	ENST00000588735.3:c.1172-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	YES	MANE_Select	NM_002055.5	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000588957.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3479	-1	cds_end_NF	HGNC	HGNC:4235	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	non_coding_transcript_exon_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000589701.2	retained_intron	1/2	-	ENST00000589701.2:n.2033C>A	-	2033	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000590922.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3477	-1	-	HGNC	HGNC:4235	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000591327.2	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1490	-1	-	HGNC	HGNC:4235	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000591719.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	3217	-1	-	HGNC	HGNC:4235	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000591880.2	protein_coding	-	3/3	ENST00000591880.2:c.*45-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	non_coding_transcript_exon_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000592065.2	retained_intron	1/2	-	ENST00000592065.2:n.494C>A	-	494	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000592320.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2423	-1	cds_end_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant,non_coding_transcript_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000592706.5	protein_coding_CDS_not_defined	-	1/2	ENST00000592706.5:n.44-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000638281.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1492	-1	-	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000638304.1	protein_coding	-	2/3	ENST00000638304.1:c.91-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant,NMD_transcript_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000638400.1	nonsense_mediated_decay	-	1/3	ENST00000638400.1:c.7-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant,non_coding_transcript_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000638488.1	retained_intron	-	2/3	ENST00000638488.1:n.636-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000638618.1	protein_coding	-	7/8	ENST00000638618.1:c.827-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	non_coding_transcript_exon_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000638921.1	retained_intron	1/1	-	ENST00000638921.1:n.53C>A	-	53	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant,NMD_transcript_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000639042.1	nonsense_mediated_decay	-	3/5	ENST00000639042.1:c.144-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	upstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000639243.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	119	-1	cds_start_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000639277.1	protein_coding	-	7/9	ENST00000639277.1:c.1172-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant,NMD_transcript_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000639369.1	nonsense_mediated_decay	-	1/4	ENST00000639369.1:c.22-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000639921.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1538	-1	cds_start_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	upstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000640545.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	69	-1	cds_start_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000640552.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	32	-1	-	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	upstream_gene_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000640859.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	61	-1	cds_start_NF	HGNC	HGNC:4235	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000867442.1	protein_coding	-	7/8	ENST00000867442.1:c.1169-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000867443.1	protein_coding	-	7/8	ENST00000867443.1:c.1196-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000867444.1	protein_coding	-	7/8	ENST00000867444.1:c.1151-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000867445.1	protein_coding	-	7/8	ENST00000867445.1:c.1172-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	intron_variant	MODIFIER	GFAP	ENSG00000131095	Transcript	ENST00000867446.1	protein_coding	-	6/7	ENST00000867446.1:c.908-46C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4235	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	DNAAF19	ENSG00000167131	Transcript	ENST00000886262.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4958	1	-	HGNC	HGNC:32700	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44929040-44929040	A	downstream_gene_variant	MODIFIER	KIF18B	ENSG00000186185	Transcript	ENST00000585687.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/A	3282	-1	-	HGNC	HGNC:27102	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44929040-44929040	A	splice_polypyrimidine_tract_variant,intron_variant	LOW	KIF18B	ENSG00000186185	Transcript	ENST00000587309.5	protein_coding	-	11/14	ENST00000587309.5:c.1554-16C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:27102	-	-	-	-	5	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44929040-44929040	A	splice_polypyrimidine_tract_variant,intron_variant	LOW	KIF18B	ENSG00000186185	Transcript	ENST00000590129.1	protein_coding	-	10/13	ENST00000590129.1:c.1581-16C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:27102	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44929040-44929040	A	splice_polypyrimidine_tract_variant,intron_variant	LOW	KIF18B	ENSG00000186185	Transcript	ENST00000593135.6	protein_coding	-	11/15	ENST00000593135.6:c.1518-16C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:27102	YES	MANE_Select	NM_001265577.2	-	5	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44929040-44929040	A	downstream_gene_variant	MODIFIER	-	ENSG00000295646	Transcript	ENST00000731540.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/A	4238	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44929040-44929040	A	splice_polypyrimidine_tract_variant,intron_variant	LOW	KIF18B	ENSG00000186185	Transcript	ENST00000914031.1	protein_coding	-	11/15	ENST00000914031.1:c.1554-16C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:27102	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44929040-44929040	A	splice_polypyrimidine_tract_variant,intron_variant	LOW	KIF18B	ENSG00000186185	Transcript	ENST00000914032.1	protein_coding	-	11/15	ENST00000914032.1:c.1554-16C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:27102	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44929040-44929040	A	splice_polypyrimidine_tract_variant,intron_variant	LOW	KIF18B	ENSG00000186185	Transcript	ENST00000914033.1	protein_coding	-	10/14	ENST00000914033.1:c.1443-16C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:27102	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44929040-44929040	A	splice_polypyrimidine_tract_variant,intron_variant	LOW	KIF18B	ENSG00000186185	Transcript	ENST00000914034.1	protein_coding	-	11/15	ENST00000914034.1:c.1554-16C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:27102	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000258960.7	protein_coding	-	6/11	ENST00000258960.7:c.714-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	YES	MANE_Select	NM_021079.5	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant,NMD_transcript_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000543908.5	nonsense_mediated_decay	-	5/5	ENST00000543908.5:c.*181-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	downstream_gene_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000585561.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	1015	1	cds_start_NF	HGNC	HGNC:7857	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant,non_coding_transcript_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000587014.2	retained_intron	-	6/9	ENST00000587014.2:n.740-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant,NMD_transcript_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000587670.2	nonsense_mediated_decay	-	5/10	ENST00000587670.2:c.*470-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant,non_coding_transcript_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000588455.5	retained_intron	-	3/4	ENST00000588455.5:n.383-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant,NMD_transcript_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000590114.6	nonsense_mediated_decay	-	5/10	ENST00000590114.6:c.*-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000590310.2	protein_coding	-	6/7	ENST00000590310.2:c.714-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant,non_coding_transcript_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000591931.2	retained_intron	-	6/10	ENST00000591931.2:n.740-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000592654.3	protein_coding	-	6/11	ENST00000592654.3:c.474-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000592782.5	protein_coding	-	7/12	ENST00000592782.5:c.714-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	5	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant,NMD_transcript_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000676753.1	nonsense_mediated_decay	-	7/12	ENST00000676753.1:c.*788-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant,NMD_transcript_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000676828.1	nonsense_mediated_decay	-	6/12	ENST00000676828.1:c.714-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000677949.1	protein_coding	-	6/10	ENST00000677949.1:c.714-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant,NMD_transcript_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000678332.1	nonsense_mediated_decay	-	7/12	ENST00000678332.1:c.*562-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant,NMD_transcript_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000678576.1	nonsense_mediated_decay	-	6/12	ENST00000678576.1:c.714-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant,non_coding_transcript_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000678606.1	retained_intron	-	6/10	ENST00000678606.1:n.740-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000678938.1	protein_coding	-	6/11	ENST00000678938.1:c.474-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000902321.1	protein_coding	-	6/10	ENST00000902321.1:c.714-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45098259-45098259	T	intron_variant	MODIFIER	NMT1	ENSG00000136448	Transcript	ENST00000927701.1	protein_coding	-	6/11	ENST00000927701.1:c.711-123G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7857	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	downstream_gene_variant	MODIFIER	PLCD3	ENSG00000161714	Transcript	ENST00000538093.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	1407	-1	cds_end_NF	HGNC	HGNC:9061	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	upstream_gene_variant	MODIFIER	PLCD3	ENSG00000161714	Transcript	ENST00000538988.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	3	-1	-	HGNC	HGNC:9061	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	upstream_gene_variant	MODIFIER	PLCD3	ENSG00000161714	Transcript	ENST00000542173.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	93	-1	-	HGNC	HGNC:9061	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	upstream_gene_variant	MODIFIER	PLCD3	ENSG00000161714	Transcript	ENST00000543623.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	3887	-1	-	HGNC	HGNC:9061	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	downstream_gene_variant	MODIFIER	PLCD3	ENSG00000161714	Transcript	ENST00000544446.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	2207	-1	-	HGNC	HGNC:9061	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	non_coding_transcript_exon_variant	MODIFIER	PLCD3	ENSG00000161714	Transcript	ENST00000546350.1	retained_intron	1/3	-	ENST00000546350.1:n.61_75del	-	61-75	-	-	-	-	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	-	-1	-	HGNC	HGNC:9061	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	downstream_gene_variant	MODIFIER	PLCD3	ENSG00000161714	Transcript	ENST00000590644.5	protein_coding	-	-	-	-	-	-	-	-	-	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	1326	-1	cds_end_NF	HGNC	HGNC:9061	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	upstream_gene_variant	MODIFIER	PLCD3	ENSG00000161714	Transcript	ENST00000611986.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	2304	-1	-	HGNC	HGNC:9061	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	upstream_gene_variant	MODIFIER	MIR6784	ENSG00000277249	Transcript	ENST00000611997.1	miRNA	-	-	-	-	-	-	-	-	-	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	4582	-1	-	HGNC	HGNC:49988	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	upstream_gene_variant	MODIFIER	PLCD3	ENSG00000161714	Transcript	ENST00000615898.4	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	3637	-1	-	HGNC	HGNC:9061	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	upstream_gene_variant	MODIFIER	PLCD3	ENSG00000161714	Transcript	ENST00000618022.4	retained_intron	-	-	-	-	-	-	-	-	-	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	3672	-1	-	HGNC	HGNC:9061	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	inframe_deletion	MODERATE	PLCD3	ENSG00000161714	Transcript	ENST00000619929.5	protein_coding	5/15	-	ENST00000619929.5:c.699_713del	ENSP00000479636.1:p.Asn234_Leu238del	804-818	699-713	233-238	SNNDRL/S	tcCAACAACGACCGTCTa/tca	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	-	-1	-	HGNC	HGNC:9061	YES	MANE_Select	NM_133373.5	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	inframe_deletion	MODERATE	PLCD3	ENSG00000161714	Transcript	ENST00000864955.1	protein_coding	5/15	-	ENST00000864955.1:c.699_713del	ENSP00000535014.1:p.Asn234_Leu238del	1194-1208	699-713	233-238	SNNDRL/S	tcCAACAACGACCGTCTa/tca	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	-	-1	-	HGNC	HGNC:9061	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	inframe_deletion	MODERATE	PLCD3	ENSG00000161714	Transcript	ENST00000864956.1	protein_coding	5/15	-	ENST00000864956.1:c.699_713del	ENSP00000535015.1:p.Asn234_Leu238del	853-867	699-713	233-238	SNNDRL/S	tcCAACAACGACCGTCTa/tca	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	-	-1	-	HGNC	HGNC:9061	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	inframe_deletion	MODERATE	PLCD3	ENSG00000161714	Transcript	ENST00000864957.1	protein_coding	5/15	-	ENST00000864957.1:c.699_713del	ENSP00000535016.1:p.Asn234_Leu238del	835-849	699-713	233-238	SNNDRL/S	tcCAACAACGACCGTCTa/tca	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	-	-1	-	HGNC	HGNC:9061	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	inframe_deletion	MODERATE	PLCD3	ENSG00000161714	Transcript	ENST00000864958.1	protein_coding	5/14	-	ENST00000864958.1:c.699_713del	ENSP00000535017.1:p.Asn234_Leu238del	835-849	699-713	233-238	SNNDRL/S	tcCAACAACGACCGTCTa/tca	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	-	-1	-	HGNC	HGNC:9061	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	inframe_deletion	MODERATE	PLCD3	ENSG00000161714	Transcript	ENST00000864959.1	protein_coding	5/14	-	ENST00000864959.1:c.699_713del	ENSP00000535018.1:p.Asn234_Leu238del	810-824	699-713	233-238	SNNDRL/S	tcCAACAACGACCGTCTa/tca	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	-	-1	-	HGNC	HGNC:9061	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	inframe_deletion	MODERATE	PLCD3	ENSG00000161714	Transcript	ENST00000864960.1	protein_coding	5/15	-	ENST00000864960.1:c.699_713del	ENSP00000535019.1:p.Asn234_Leu238del	783-797	699-713	233-238	SNNDRL/S	tcCAACAACGACCGTCTa/tca	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	-	-1	-	HGNC	HGNC:9061	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	intron_variant	MODIFIER	PLCD3	ENSG00000161714	Transcript	ENST00000939188.1	protein_coding	-	4/11	ENST00000939188.1:c.684+1296_684+1310del	-	-	-	-	-	-	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	-	-1	-	HGNC	HGNC:9061	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	inframe_deletion	MODERATE	PLCD3	ENSG00000161714	Transcript	ENST00000945489.1	protein_coding	5/15	-	ENST00000945489.1:c.699_713del	ENSP00000615548.1:p.Asn234_Leu238del	800-814	699-713	233-238	SNNDRL/S	tcCAACAACGACCGTCTa/tca	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	-	-1	-	HGNC	HGNC:9061	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	inframe_deletion	MODERATE	PLCD3	ENSG00000161714	Transcript	ENST00000945490.1	protein_coding	4/14	-	ENST00000945490.1:c.537_551del	ENSP00000615549.1:p.Asn180_Leu184del	621-635	537-551	179-184	SNNDRL/S	tcCAACAACGACCGTCTa/tca	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	-	-1	-	HGNC	HGNC:9061	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45119014-45119029	-	inframe_deletion	MODERATE	PLCD3	ENSG00000161714	Transcript	ENST00000945491.1	protein_coding	5/15	-	ENST00000945491.1:c.699_713del	ENSP00000615550.1:p.Asn234_Leu238del	776-790	699-713	233-238	SNNDRL/S	tcCAACAACGACCGTCTa/tca	COSV59560012	AGACGGTCGTTGTTG	TAGACGGTCGTTGTTG/T	-	-1	-	HGNC	HGNC:9061	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	3_prime_UTR_variant	MODIFIER	HEXIM1	ENSG00000186834	Transcript	ENST00000332499.4	protein_coding	1/1	-	ENST00000332499.4:c.*1608G>T	-	3404	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:24953	YES	MANE_Select	NM_006460.3	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000452741.3	lncRNA	-	2/2	ENST00000452741.3:n.258-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000589950.2	lncRNA	-	1/1	ENST00000589950.2:n.79-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	YES	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	upstream_gene_variant	MODIFIER	-	ENSG00000276728	Transcript	ENST00000612013.3	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3408	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837780.1	lncRNA	-	1/2	ENST00000837780.1:n.93-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837781.1	lncRNA	-	2/2	ENST00000837781.1:n.256-1854C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837782.1	lncRNA	-	1/1	ENST00000837782.1:n.82-1854C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837783.1	lncRNA	-	2/3	ENST00000837783.1:n.242-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837784.1	lncRNA	-	3/3	ENST00000837784.1:n.434-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837785.1	lncRNA	-	2/2	ENST00000837785.1:n.462-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837786.1	lncRNA	-	3/3	ENST00000837786.1:n.350-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837787.1	lncRNA	-	3/3	ENST00000837787.1:n.356-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837788.1	lncRNA	-	2/2	ENST00000837788.1:n.250-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837789.1	lncRNA	-	3/3	ENST00000837789.1:n.291-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837790.1	lncRNA	-	4/4	ENST00000837790.1:n.443-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837791.1	lncRNA	-	3/3	ENST00000837791.1:n.533-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	intron_variant,non_coding_transcript_variant	MODIFIER	HEXIM2-AS1	ENSG00000224505	Transcript	ENST00000837792.1	lncRNA	-	1/1	ENST00000837792.1:n.283-959C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:55857	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	upstream_gene_variant	MODIFIER	-	ENSG00000276728	Transcript	ENST00000838075.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1994	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	downstream_gene_variant	MODIFIER	-	ENSG00000309064	Transcript	ENST00000838177.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3815	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:45151878-45151878	T	regulatory_region_variant	MODIFIER	-	-	RegulatoryFeature	ENSR17_C6GZ6	enhancer	-	-	-	-	-	-	-	-	-	-	G	G/T	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000225567.9	protein_coding	-	5/6	ENST00000225567.9:c.478-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000393456.7	protein_coding	-	4/4	ENST00000393456.7:c.283-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	downstream_gene_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000415811.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	1679	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000570879.2	protein_coding	-	6/6	ENST00000570879.2:c.589-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	cds_end_NF	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant,non_coding_transcript_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000572403.5	protein_coding_CDS_not_defined	-	5/6	ENST00000572403.5:n.482-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000573224.2	protein_coding	-	5/6	ENST00000573224.2:c.478-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000576910.7	protein_coding	-	5/5	ENST00000576910.7:c.472-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000623037.2	protein_coding	-	5/5	ENST00000623037.2:c.534-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant,NMD_transcript_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000638189.1	nonsense_mediated_decay	-	5/8	ENST00000638189.1:c.478-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000638216.1	protein_coding	-	5/5	ENST00000638216.1:c.424-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant,NMD_transcript_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000638219.1	nonsense_mediated_decay	-	5/9	ENST00000638219.1:c.478-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000638374.1	protein_coding	-	5/5	ENST00000638374.1:c.121-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant,NMD_transcript_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000638468.1	nonsense_mediated_decay	-	2/4	ENST00000638468.1:c.231-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	cds_start_NF	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant,NMD_transcript_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000638579.1	nonsense_mediated_decay	-	5/8	ENST00000638579.1:c.478-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000638634.1	protein_coding	-	4/4	ENST00000638634.1:c.334-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000638697.1	protein_coding	-	4/5	ENST00000638697.1:c.337-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000638838.1	protein_coding	-	5/5	ENST00000638838.1:c.475-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000638892.1	protein_coding	-	4/4	ENST00000638892.1:c.-33-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	downstream_gene_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000639031.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	2894	1	-	HGNC	HGNC:4431	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant,non_coding_transcript_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000639066.1	protein_coding_CDS_not_defined	-	4/6	ENST00000639066.1:n.370-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	downstream_gene_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000639080.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	2946	1	-	HGNC	HGNC:4431	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant,NMD_transcript_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000639199.1	nonsense_mediated_decay	-	4/6	ENST00000639199.1:c.337-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	downstream_gene_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000639287.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	1859	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant,NMD_transcript_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000639365.1	nonsense_mediated_decay	-	5/7	ENST00000639365.1:c.478-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant,NMD_transcript_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000639388.1	nonsense_mediated_decay	-	5/7	ENST00000639388.1:c.424-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000639713.1	protein_coding	-	3/4	ENST00000639713.1:c.349-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	cds_start_NF	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant,NMD_transcript_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000639985.1	nonsense_mediated_decay	-	4/6	ENST00000639985.1:c.337-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640051.2	protein_coding	-	5/5	ENST00000640051.2:c.478-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	YES	MANE_Select	NM_004287.5	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640068.1	protein_coding	-	4/4	ENST00000640068.1:c.283-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640138.1	protein_coding	-	4/4	ENST00000640138.1:c.121-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	downstream_gene_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640269.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	1679	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant,NMD_transcript_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640358.1	nonsense_mediated_decay	-	5/7	ENST00000640358.1:c.478-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640443.1	protein_coding	-	5/5	ENST00000640443.1:c.424-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640495.1	protein_coding	-	3/3	ENST00000640495.1:c.121-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640608.1	protein_coding	-	4/4	ENST00000640608.1:c.337-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	downstream_gene_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640621.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	784	1	-	HGNC	HGNC:4431	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	downstream_gene_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640709.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	4852	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640711.1	protein_coding	-	3/4	ENST00000640711.1:c.144-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640723.1	protein_coding	-	4/6	ENST00000640723.1:c.417-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	cds_start_NF	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant,NMD_transcript_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640792.1	nonsense_mediated_decay	-	5/7	ENST00000640792.1:c.478-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	downstream_gene_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640806.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	3326	1	cds_end_NF	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	upstream_gene_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640866.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/C	125	1	cds_start_NF	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:46938480-46938480	C	intron_variant	MODIFIER	GOSR2	ENSG00000108433	Transcript	ENST00000640871.1	protein_coding	-	3/3	ENST00000640871.1:c.278-119G>C	-	-	-	-	-	-	-	G	G/C	-	1	cds_start_NF	HGNC	HGNC:4431	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:47344197-47344197	T	missense_variant	MODERATE	EFCAB13	ENSG00000178852	Transcript	ENST00000331493.7	protein_coding	7/25	-	ENST00000331493.7:c.339G>T	ENSP00000332111.2:p.Lys113Asn	776	339	113	K/N	aaG/aaT	COSV58952555	G	G/T	-	1	-	HGNC	HGNC:26864	YES	MANE_Select	NM_152347.5	-	1	A2	-	deleterious(0)	probably_damaging(0.992)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.2597	-	-	-	-
.	17:47344197-47344197	T	5_prime_UTR_variant	MODIFIER	EFCAB13	ENSG00000178852	Transcript	ENST00000517310.5	protein_coding	8/11	-	ENST00000517310.5:c.-106G>T	-	1059	-	-	-	-	COSV58952555	G	G/T	-	1	cds_end_NF	HGNC	HGNC:26864	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47344197-47344197	T	missense_variant	MODERATE	EFCAB13	ENSG00000178852	Transcript	ENST00000517484.5	protein_coding	7/22	-	ENST00000517484.5:c.339G>T	ENSP00000430048.1:p.Lys113Asn	706	339	113	K/N	aaG/aaT	COSV58952555	G	G/T	-	1	-	HGNC	HGNC:26864	-	-	-	-	2	P2	-	deleterious(0)	possibly_damaging(0.899)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.2597	-	-	-	-
.	17:47344197-47344197	T	downstream_gene_variant	MODIFIER	EFCAB13	ENSG00000178852	Transcript	ENST00000518081.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	COSV58952555	G	G/T	4109	1	-	HGNC	HGNC:26864	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47344197-47344197	T	downstream_gene_variant	MODIFIER	EFCAB13	ENSG00000178852	Transcript	ENST00000518646.5	retained_intron	-	-	-	-	-	-	-	-	-	COSV58952555	G	G/T	2746	1	-	HGNC	HGNC:26864	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47344197-47344197	T	non_coding_transcript_exon_variant	MODIFIER	EFCAB13	ENSG00000178852	Transcript	ENST00000520776.5	retained_intron	5/14	-	ENST00000520776.5:n.473G>T	-	473	-	-	-	-	COSV58952555	G	G/T	-	1	-	HGNC	HGNC:26864	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47344197-47344197	T	downstream_gene_variant	MODIFIER	EFCAB13	ENSG00000178852	Transcript	ENST00000520802.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	COSV58952555	G	G/T	2170	1	-	HGNC	HGNC:26864	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47344197-47344197	T	splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant	LOW	EFCAB13-DT	ENSG00000263293	Transcript	ENST00000619646.2	lncRNA	-	6/9	ENST00000619646.2:n.763-15C>A	-	-	-	-	-	-	COSV58952555	G	G/T	-	-1	-	HGNC	HGNC:55338	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47344197-47344197	T	intron_variant,non_coding_transcript_variant	MODIFIER	EFCAB13-DT	ENSG00000263293	Transcript	ENST00000783715.1	lncRNA	-	5/6	ENST00000783715.1:n.741-25577C>A	-	-	-	-	-	-	COSV58952555	G	G/T	-	-1	-	HGNC	HGNC:55338	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47344197-47344197	T	splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant	LOW	EFCAB13-DT	ENSG00000263293	Transcript	ENST00000783716.1	lncRNA	-	5/7	ENST00000783716.1:n.608-15C>A	-	-	-	-	-	-	COSV58952555	G	G/T	-	-1	-	HGNC	HGNC:55338	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47344197-47344197	T	splice_polypyrimidine_tract_variant,intron_variant,non_coding_transcript_variant	LOW	EFCAB13-DT	ENSG00000263293	Transcript	ENST00000783717.1	lncRNA	-	5/6	ENST00000783717.1:n.618-15C>A	-	-	-	-	-	-	COSV58952555	G	G/T	-	-1	-	HGNC	HGNC:55338	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47699332-47699332	T	missense_variant	MODERATE	TBKBP1	ENSG00000198933	Transcript	ENST00000361722.7	protein_coding	5/9	-	ENST00000361722.7:c.647G>T	ENSP00000354777.3:p.Gly216Val	1496	647	216	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:30140	-	-	-	-	1	P3	-	tolerated(0.1)	unknown(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0952	-	-	-	-
.	17:47699332-47699332	T	downstream_gene_variant	MODIFIER	TBKBP1	ENSG00000198933	Transcript	ENST00000537587.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	565	1	cds_end_NF	HGNC	HGNC:30140	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:47699332-47699332	T	missense_variant	MODERATE	TBKBP1	ENSG00000198933	Transcript	ENST00000578982.6	protein_coding	6/10	-	ENST00000578982.6:c.647G>T	ENSP00000462339.2:p.Gly216Val	715	647	216	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:30140	YES	MANE_Select	NM_001394755.1	-	3	P3	-	tolerated(0.1)	unknown(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0952	-	-	-	-
.	17:47699332-47699332	T	missense_variant	MODERATE	TBKBP1	ENSG00000198933	Transcript	ENST00000851180.1	protein_coding	6/10	-	ENST00000851180.1:c.644G>T	ENSP00000521239.1:p.Gly215Val	843	644	215	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:30140	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:47699332-47699332	T	missense_variant	MODERATE	TBKBP1	ENSG00000198933	Transcript	ENST00000851181.1	protein_coding	6/10	-	ENST00000851181.1:c.647G>T	ENSP00000521240.1:p.Gly216Val	730	647	216	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:30140	-	-	-	-	-	P3	-	tolerated(0.1)	unknown(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0952	-	-	-	-
.	17:47699332-47699332	T	missense_variant	MODERATE	TBKBP1	ENSG00000198933	Transcript	ENST00000851182.1	protein_coding	6/10	-	ENST00000851182.1:c.641G>T	ENSP00000521241.1:p.Gly214Val	815	641	214	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:30140	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:47699332-47699332	T	missense_variant	MODERATE	TBKBP1	ENSG00000198933	Transcript	ENST00000851183.1	protein_coding	6/10	-	ENST00000851183.1:c.647G>T	ENSP00000521242.1:p.Gly216Val	777	647	216	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:30140	-	-	-	-	-	P3	-	tolerated(0.1)	unknown(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0952	-	-	-	-
.	17:47699332-47699332	T	missense_variant	MODERATE	TBKBP1	ENSG00000198933	Transcript	ENST00000851184.1	protein_coding	6/10	-	ENST00000851184.1:c.641G>T	ENSP00000521243.1:p.Gly214Val	762	641	214	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:30140	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:47699332-47699332	T	missense_variant	MODERATE	TBKBP1	ENSG00000198933	Transcript	ENST00000851185.1	protein_coding	6/10	-	ENST00000851185.1:c.647G>T	ENSP00000521244.1:p.Gly216Val	709	647	216	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:30140	-	-	-	-	-	P3	-	tolerated(0.1)	unknown(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0952	-	-	-	-
.	17:47699332-47699332	T	missense_variant	MODERATE	TBKBP1	ENSG00000198933	Transcript	ENST00000938873.1	protein_coding	6/10	-	ENST00000938873.1:c.644G>T	ENSP00000608932.1:p.Gly215Val	725	644	215	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:30140	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:47699332-47699332	T	missense_variant	MODERATE	TBKBP1	ENSG00000198933	Transcript	ENST00000938874.1	protein_coding	5/9	-	ENST00000938874.1:c.539G>T	ENSP00000608933.1:p.Gly180Val	711	539	180	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:30140	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:47699332-47699332	T	missense_variant	MODERATE	TBKBP1	ENSG00000198933	Transcript	ENST00000938875.1	protein_coding	6/10	-	ENST00000938875.1:c.647G>T	ENSP00000608934.1:p.Gly216Val	1105	647	216	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:30140	-	-	-	-	-	P3	-	tolerated(0.1)	unknown(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0952	-	-	-	-
.	17:47699332-47699332	T	missense_variant	MODERATE	TBKBP1	ENSG00000198933	Transcript	ENST00000938876.1	protein_coding	6/10	-	ENST00000938876.1:c.584G>T	ENSP00000608935.1:p.Gly195Val	648	584	195	G/V	gGc/gTc	-	G	G/T	-	1	-	HGNC	HGNC:30140	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	intron_variant	MODIFIER	LRRC46	ENSG00000141294	Transcript	ENST00000269025.9	protein_coding	-	6/7	ENST00000269025.9:c.452+85G>T	-	-	-	-	-	-	COSV51635378	G	G/T	-	1	-	HGNC	HGNC:25047	YES	MANE_Select	NM_033413.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000290216.14	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	1505	-1	-	HGNC	HGNC:30381	YES	MANE_Select	NM_138355.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	upstream_gene_variant	MODIFIER	MRPL10	ENSG00000159111	Transcript	ENST00000351111.7	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	4646	-1	-	HGNC	HGNC:14055	YES	MANE_Select	NM_145255.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000407215.7	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	1505	-1	-	HGNC	HGNC:30381	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	upstream_gene_variant	MODIFIER	MRPL10	ENSG00000159111	Transcript	ENST00000414011.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	4653	-1	-	HGNC	HGNC:14055	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	upstream_gene_variant	MODIFIER	MRPL10	ENSG00000159111	Transcript	ENST00000421763.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	4657	-1	-	HGNC	HGNC:14055	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	upstream_gene_variant	MODIFIER	MRPL10	ENSG00000159111	Transcript	ENST00000423147.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	4664	-1	-	HGNC	HGNC:14055	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	upstream_gene_variant	MODIFIER	MRPL10	ENSG00000159111	Transcript	ENST00000466016.5	retained_intron	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	4664	-1	-	HGNC	HGNC:14055	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	upstream_gene_variant	MODIFIER	MRPL10	ENSG00000159111	Transcript	ENST00000480901.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	4662	-1	-	HGNC	HGNC:14055	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000578323.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	3272	-1	cds_end_NF	HGNC	HGNC:30381	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000578840.5	retained_intron	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	3487	-1	-	HGNC	HGNC:30381	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	LRRC46	ENSG00000141294	Transcript	ENST00000579742.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	125	1	-	HGNC	HGNC:25047	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000579856.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	2126	-1	-	HGNC	HGNC:30381	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	LRRC46	ENSG00000141294	Transcript	ENST00000579971.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	87	1	-	HGNC	HGNC:25047	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000580428.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	3715	-1	-	HGNC	HGNC:30381	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000581546.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	3474	-1	-	HGNC	HGNC:30381	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000581645.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	1521	-1	-	HGNC	HGNC:30381	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000582459.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	1533	-1	-	HGNC	HGNC:30381	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000582656.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	2774	-1	-	HGNC	HGNC:30381	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000583090.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	2772	-1	-	HGNC	HGNC:30381	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000584123.5	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	1520	-1	-	HGNC	HGNC:30381	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000584567.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	1533	-1	cds_start_NF	HGNC	HGNC:30381	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	intron_variant,NMD_transcript_variant	MODIFIER	LRRC46	ENSG00000141294	Transcript	ENST00000584580.1	nonsense_mediated_decay	-	6/7	ENST00000584580.1:c.*1206+85G>T	-	-	-	-	-	-	COSV51635378	G	G/T	-	1	-	HGNC	HGNC:25047	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	LRRC46	ENSG00000141294	Transcript	ENST00000584809.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	939	1	-	HGNC	HGNC:25047	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000895877.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	1496	-1	-	HGNC	HGNC:30381	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000895878.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	1505	-1	-	HGNC	HGNC:30381	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000895879.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	1506	-1	-	HGNC	HGNC:30381	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000895880.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	1505	-1	-	HGNC	HGNC:30381	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000895881.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	1505	-1	-	HGNC	HGNC:30381	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	upstream_gene_variant	MODIFIER	MRPL10	ENSG00000159111	Transcript	ENST00000928398.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	4660	-1	-	HGNC	HGNC:14055	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	downstream_gene_variant	MODIFIER	SCRN2	ENSG00000141295	Transcript	ENST00000928918.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	1505	-1	-	HGNC	HGNC:30381	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	intron_variant	MODIFIER	LRRC46	ENSG00000141294	Transcript	ENST00000955155.1	protein_coding	-	6/7	ENST00000955155.1:c.452+85G>T	-	-	-	-	-	-	COSV51635378	G	G/T	-	1	-	HGNC	HGNC:25047	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47836187-47836187	T	upstream_gene_variant	MODIFIER	MRPL10	ENSG00000159111	Transcript	ENST00000959995.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV51635378	G	G/T	4657	-1	-	HGNC	HGNC:14055	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:47848214-47848214	T	synonymous_variant	LOW	SP6	ENSG00000189120	Transcript	ENST00000342234.3	protein_coding	2/2	-	ENST00000342234.3:c.216C>A	ENSP00000340799.2:p.Ala72%3D	494	216	72	A	gcC/gcA	-	G	G/T	-	-1	-	HGNC	HGNC:14530	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:47848214-47848214	T	synonymous_variant	LOW	SP6	ENSG00000189120	Transcript	ENST00000536300.2	protein_coding	2/2	-	ENST00000536300.2:c.216C>A	ENSP00000438209.1:p.Ala72%3D	518	216	72	A	gcC/gcA	-	G	G/T	-	-1	-	HGNC	HGNC:14530	YES	MANE_Select	NM_001258248.2	-	2	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:47848214-47848214	T	synonymous_variant	LOW	SP6	ENSG00000189120	Transcript	ENST00000937756.1	protein_coding	2/2	-	ENST00000937756.1:c.216C>A	ENSP00000607815.1:p.Ala72%3D	317	216	72	A	gcC/gcA	-	G	G/T	-	-1	-	HGNC	HGNC:14530	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000357480.9	protein_coding	5/5	-	ENST00000357480.9:c.*332A>T	-	3166	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000361665.7	protein_coding	6/6	-	ENST00000361665.7:c.*332A>T	-	3222	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000362042.8	protein_coding	6/6	-	ENST00000362042.8:c.*332A>T	-	3267	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	YES	MANE_Select	NM_003204.3	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	downstream_gene_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000536222.5	protein_coding	-	-	-	-	-	-	-	-	-	-	A	A/T	320	1	-	HGNC	HGNC:7781	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	downstream_gene_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000577411.5	protein_coding	-	-	-	-	-	-	-	-	-	-	A	A/T	1512	1	cds_end_NF	HGNC	HGNC:7781	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	downstream_gene_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000577431.1	protein_coding	-	-	-	-	-	-	-	-	-	-	A	A/T	1666	1	cds_end_NF	HGNC	HGNC:7781	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	downstream_gene_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000579537.5	protein_coding	-	-	-	-	-	-	-	-	-	-	A	A/T	3529	1	cds_end_NF	HGNC	HGNC:7781	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	downstream_gene_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000580037.1	protein_coding	-	-	-	-	-	-	-	-	-	-	A	A/T	1557	1	cds_end_NF	HGNC	HGNC:7781	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	downstream_gene_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000580050.1	protein_coding	-	-	-	-	-	-	-	-	-	-	A	A/T	3385	1	cds_end_NF	HGNC	HGNC:7781	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000581319.1	protein_coding	2/2	-	ENST00000581319.1:c.*2A>T	-	404	-	-	-	-	-	A	A/T	-	1	cds_start_NF	HGNC	HGNC:7781	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	downstream_gene_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000582155.5	protein_coding	-	-	-	-	-	-	-	-	-	-	A	A/T	140	1	-	HGNC	HGNC:7781	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	downstream_gene_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000583210.5	protein_coding	-	-	-	-	-	-	-	-	-	-	A	A/T	1631	1	cds_end_NF	HGNC	HGNC:7781	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	downstream_gene_variant	MODIFIER	-	ENSG00000266341	Transcript	ENST00000583349.1	lncRNA	-	-	-	-	-	-	-	-	-	-	A	A/T	410	-1	-	-	-	YES	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	downstream_gene_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000583378.5	protein_coding	-	-	-	-	-	-	-	-	-	-	A	A/T	37	1	-	HGNC	HGNC:7781	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	downstream_gene_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000584634.5	protein_coding	-	-	-	-	-	-	-	-	-	-	A	A/T	1642	1	cds_end_NF	HGNC	HGNC:7781	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000585291.5	protein_coding	6/6	-	ENST00000585291.5:c.*332A>T	-	2876	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000880070.1	protein_coding	6/6	-	ENST00000880070.1:c.*332A>T	-	3354	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000880071.1	protein_coding	5/5	-	ENST00000880071.1:c.*332A>T	-	3189	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000880072.1	protein_coding	6/6	-	ENST00000880072.1:c.*332A>T	-	3267	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000880073.1	protein_coding	6/6	-	ENST00000880073.1:c.*332A>T	-	3321	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000880074.1	protein_coding	5/5	-	ENST00000880074.1:c.*332A>T	-	3178	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000880075.1	protein_coding	4/4	-	ENST00000880075.1:c.*332A>T	-	3120	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000937364.1	protein_coding	5/5	-	ENST00000937364.1:c.*332A>T	-	3308	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000937365.1	protein_coding	5/5	-	ENST00000937365.1:c.*332A>T	-	3170	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48059973-48059973	T	3_prime_UTR_variant	MODIFIER	NFE2L1	ENSG00000082641	Transcript	ENST00000937366.1	protein_coding	5/5	-	ENST00000937366.1:c.*332A>T	-	3197	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:7781	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000225603.9	protein_coding	-	1/4	ENST00000225603.9:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	YES	MANE_Select	NM_001127228.2	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000393408.7	protein_coding	-	1/4	ENST00000393408.7:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000402583.5	protein_coding	-	1/4	ENST00000402583.5:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:1551	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000444685.1	protein_coding	-	2/4	ENST00000444685.1:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:1551	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000495350.5	protein_coding	-	1/3	ENST00000495350.5:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000581003.5	protein_coding	-	2/5	ENST00000581003.5:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:1551	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000864325.1	protein_coding	-	1/4	ENST00000864325.1:c.-34-175C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000864326.1	protein_coding	-	1/4	ENST00000864326.1:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000864327.1	protein_coding	-	1/4	ENST00000864327.1:c.-34-175C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000864328.1	protein_coding	-	1/4	ENST00000864328.1:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000864329.1	protein_coding	-	1/4	ENST00000864329.1:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000922219.1	protein_coding	-	2/5	ENST00000922219.1:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000922220.1	protein_coding	-	2/5	ENST00000922220.1:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000922221.1	protein_coding	-	1/4	ENST00000922221.1:c.-34-175C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000922222.1	protein_coding	-	2/5	ENST00000922222.1:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000922223.1	protein_coding	-	1/4	ENST00000922223.1:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:48077213-48077213	T	intron_variant	MODIFIER	CBX1	ENSG00000108468	Transcript	ENST00000922224.1	protein_coding	-	1/4	ENST00000922224.1:c.-37-172C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:1551	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000240333.12	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3167	-1	-	HGNC	HGNC:20798	YES	MANE_Select	NM_005827.4	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	3_prime_UTR_variant	MODIFIER	FAM117A	ENSG00000121104	Transcript	ENST00000240364.7	protein_coding	8/8	-	ENST00000240364.7:c.*124C>A	-	1530	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24179	YES	MANE_Select	NM_030802.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000435059.6	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3211	-1	-	HGNC	HGNC:20798	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000502268.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	4064	-1	cds_start_NF	HGNC	HGNC:20798	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000502406.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2965	-1	-	HGNC	HGNC:20798	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000503334.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2968	-1	cds_end_NF	HGNC	HGNC:20798	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	downstream_gene_variant	MODIFIER	FAM117A	ENSG00000121104	Transcript	ENST00000503573.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	214	-1	cds_start_NF	HGNC	HGNC:24179	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000504260.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3360	-1	-	HGNC	HGNC:20798	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000505765.2	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3871	-1	-	HGNC	HGNC:20798	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000507773.6	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	3041	-1	-	HGNC	HGNC:20798	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000508520.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2962	-1	cds_end_NF	HGNC	HGNC:20798	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000508607.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3211	-1	-	HGNC	HGNC:20798	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000508926.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4776	-1	-	HGNC	HGNC:20798	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000509781.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3167	-1	-	HGNC	HGNC:20798	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000511657.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2117	-1	cds_end_NF	HGNC	HGNC:20798	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000511763.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3191	-1	cds_end_NF	HGNC	HGNC:20798	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000250751	Transcript	ENST00000512720.1	lncRNA	-	1/1	ENST00000512720.1:n.142+2656G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	-	-	YES	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	3_prime_UTR_variant	MODIFIER	FAM117A	ENSG00000121104	Transcript	ENST00000513602.5	protein_coding	8/8	-	ENST00000513602.5:c.*124C>A	-	1386	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24179	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000514907.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2974	-1	cds_end_NF	HGNC	HGNC:20798	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000515850.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3182	-1	cds_end_NF	HGNC	HGNC:20798	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000649906.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3180	-1	-	HGNC	HGNC:20798	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000250751	Transcript	ENST00000773024.1	lncRNA	-	1/1	ENST00000773024.1:n.92-387G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000858530.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3178	-1	-	HGNC	HGNC:20798	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000858531.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3176	-1	-	HGNC	HGNC:20798	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000858532.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3178	-1	-	HGNC	HGNC:20798	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000858533.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3211	-1	-	HGNC	HGNC:20798	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000940145.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3101	-1	-	HGNC	HGNC:20798	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000940146.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3167	-1	-	HGNC	HGNC:20798	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:49711131-49711131	T	upstream_gene_variant	MODIFIER	SLC35B1	ENSG00000121073	Transcript	ENST00000953815.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3222	-1	-	HGNC	HGNC:20798	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50388046-50388046	T	intron_variant	MODIFIER	LRRC59	ENSG00000108829	Transcript	ENST00000225972.8	protein_coding	-	5/6	ENST00000225972.8:c.502+14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:28817	YES	MANE_Select	NM_018509.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50388046-50388046	T	upstream_gene_variant	MODIFIER	Y_RNA	ENSG00000206824	Transcript	ENST00000384097.1	misc_RNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1800	-1	-	RFAM	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50388046-50388046	T	upstream_gene_variant	MODIFIER	LRRC59	ENSG00000108829	Transcript	ENST00000503118.2	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2912	-1	cds_start_NF	HGNC	HGNC:28817	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50388046-50388046	T	intron_variant	MODIFIER	LRRC59	ENSG00000108829	Transcript	ENST00000894028.1	protein_coding	-	4/5	ENST00000894028.1:c.442+14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:28817	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50388046-50388046	T	intron_variant	MODIFIER	LRRC59	ENSG00000108829	Transcript	ENST00000894029.1	protein_coding	-	5/6	ENST00000894029.1:c.499+17C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:28817	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50388046-50388046	T	intron_variant	MODIFIER	LRRC59	ENSG00000108829	Transcript	ENST00000894030.1	protein_coding	-	5/6	ENST00000894030.1:c.502+14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:28817	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50388046-50388046	T	intron_variant	MODIFIER	LRRC59	ENSG00000108829	Transcript	ENST00000894031.1	protein_coding	-	3/4	ENST00000894031.1:c.238+14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:28817	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50388046-50388046	T	intron_variant	MODIFIER	LRRC59	ENSG00000108829	Transcript	ENST00000927576.1	protein_coding	-	5/6	ENST00000927576.1:c.487+14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:28817	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50388046-50388046	T	intron_variant	MODIFIER	LRRC59	ENSG00000108829	Transcript	ENST00000927577.1	protein_coding	-	5/5	ENST00000927577.1:c.502+14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:28817	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50388046-50388046	T	intron_variant	MODIFIER	LRRC59	ENSG00000108829	Transcript	ENST00000927578.1	protein_coding	-	6/7	ENST00000927578.1:c.502+14C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:28817	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000352832.9	protein_coding	6/34	-	ENST00000352832.9:c.909G>T	ENSP00000339302.5:p.Glu303Asp	1281	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.03)	benign(0.007)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000354983.8	protein_coding	6/36	-	ENST00000354983.8:c.909G>T	ENSP00000347078.4:p.Glu303Asp	1301	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	5	A2	-	deleterious_low_confidence(0.02)	benign(0.001)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000358244.9	protein_coding	6/35	-	ENST00000358244.9:c.909G>T	ENSP00000350979.5:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.02)	unknown(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000359106.10	protein_coding	6/38	-	ENST00000359106.10:c.909G>T	ENSP00000352011.5:p.Glu303Asp	1654	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	YES	MANE_Select	NM_018896.5	-	1	A2	-	deleterious_low_confidence(0.02)	benign(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000360761.8	protein_coding	6/35	-	ENST00000360761.8:c.909G>T	ENSP00000353990.4:p.Glu303Asp	1301	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.03)	benign(0.001)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000416767.8	protein_coding	6/23	-	ENST00000416767.8:c.909G>T	ENSP00000392390.4:p.Glu303Asp	937	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0)	benign(0.003)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000429973.6	protein_coding	6/35	-	ENST00000429973.6:c.909G>T	ENSP00000414388.2:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.03)	benign(0.012)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000442258.6	protein_coding	6/34	-	ENST00000442258.6:c.909G>T	ENSP00000409759.2:p.Glu303Asp	1084	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.03)	benign(0.011)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000502264.5	protein_coding	6/36	-	ENST00000502264.5:c.909G>T	ENSP00000425522.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.02)	benign(0.003)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant,NMD_transcript_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000503436.5	nonsense_mediated_decay	6/35	-	ENST00000503436.5:c.909G>T	ENSP00000427231.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.01)	benign(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000503485.5	protein_coding	6/36	-	ENST00000503485.5:c.909G>T	ENSP00000427238.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.01)	benign(0.001)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant,NMD_transcript_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000503607.5	nonsense_mediated_decay	6/34	-	ENST00000503607.5:c.909G>T	ENSP00000426558.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0)	benign(0.005)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant,NMD_transcript_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000504076.5	nonsense_mediated_decay	6/35	-	ENST00000504076.5:c.909G>T	ENSP00000425153.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.01)	benign(0.003)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000505165.5	protein_coding	6/37	-	ENST00000505165.5:c.909G>T	ENSP00000422268.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.02)	benign(0.003)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant,NMD_transcript_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000506406.5	nonsense_mediated_decay	6/36	-	ENST00000506406.5:c.909G>T	ENSP00000426313.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.01)	benign(0.003)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000507336.5	protein_coding	6/37	-	ENST00000507336.5:c.909G>T	ENSP00000420918.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.01)	benign(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000507510.6	protein_coding	6/37	-	ENST00000507510.6:c.909G>T	ENSP00000423112.2:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.01)	benign(0.001)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000507609.5	protein_coding	6/36	-	ENST00000507609.5:c.909G>T	ENSP00000423045.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.03)	benign(0.009)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000507896.5	protein_coding	6/36	-	ENST00000507896.5:c.909G>T	ENSP00000421518.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.02)	benign(0.003)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000510115.5	protein_coding	6/35	-	ENST00000510115.5:c.909G>T	ENSP00000427173.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.01)	benign(0.005)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000510366.5	protein_coding	6/35	-	ENST00000510366.5:c.909G>T	ENSP00000426814.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.01)	benign(0.001)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant,NMD_transcript_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000511765.5	nonsense_mediated_decay	6/35	-	ENST00000511765.5:c.909G>T	ENSP00000427247.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.01)	benign(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant,NMD_transcript_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000511768.5	nonsense_mediated_decay	6/35	-	ENST00000511768.5:c.909G>T	ENSP00000424664.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.01)	benign(0.003)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000512389.5	protein_coding	6/35	-	ENST00000512389.5:c.909G>T	ENSP00000426261.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	P4	-	deleterious_low_confidence(0.02)	benign(0.001)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000513689.6	protein_coding	6/36	-	ENST00000513689.6:c.909G>T	ENSP00000426172.2:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.01)	benign(0.001)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000513964.5	protein_coding	6/35	-	ENST00000513964.5:c.909G>T	ENSP00000425451.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.01)	benign(0.001)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000514079.5	protein_coding	6/36	-	ENST00000514079.5:c.909G>T	ENSP00000423317.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.02)	benign(0.012)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000514181.5	protein_coding	6/35	-	ENST00000514181.5:c.909G>T	ENSP00000425698.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.03)	benign(0.006)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000514717.5	protein_coding	6/35	-	ENST00000514717.5:c.909G>T	ENSP00000422407.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	deleterious_low_confidence(0.02)	benign(0.007)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000515165.5	protein_coding	6/36	-	ENST00000515165.5:c.909G>T	ENSP00000426098.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.02)	benign(0.009)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000515411.5	protein_coding	6/36	-	ENST00000515411.5:c.909G>T	ENSP00000423155.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.01)	benign(0.012)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000515765.5	protein_coding	6/36	-	ENST00000515765.5:c.909G>T	ENSP00000426232.1:p.Glu303Asp	909	909	303	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	deleterious_low_confidence(0.01)	benign(0.005)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.1179	-	-	-	-
.	17:50572716-50572716	T	missense_variant	MODERATE	CACNA1G	ENSG00000006283	Transcript	ENST00000570567.1	protein_coding	4/6	-	ENST00000570567.1:c.555G>T	ENSP00000459988.1:p.Glu185Asp	555	555	185	E/D	gaG/gaT	COSV61730271	G	G/T	-	1	cds_start_NF	HGNC	HGNC:1394	-	-	-	-	5	-	-	deleterious_low_confidence(0.01)	benign(0.005)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000352832.9	protein_coding	-	33/33	ENST00000352832.9:c.6018+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000354983.8	protein_coding	-	35/35	ENST00000354983.8:c.6297+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	5	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000358244.9	protein_coding	-	33/34	ENST00000358244.9:c.6018+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000359106.10	protein_coding	-	37/37	ENST00000359106.10:c.6399+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	YES	MANE_Select	NM_018896.5	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000360761.8	protein_coding	-	34/34	ENST00000360761.8:c.6051+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000429973.6	protein_coding	-	34/34	ENST00000429973.6:c.6066+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000442258.6	protein_coding	-	33/33	ENST00000442258.6:c.5997+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000502264.5	protein_coding	-	35/35	ENST00000502264.5:c.6186+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	downstream_gene_variant	MODIFIER	-	ENSG00000251239	Transcript	ENST00000502435.2	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	2480	-1	-	-	-	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant,NMD_transcript_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000503436.5	nonsense_mediated_decay	-	34/34	ENST00000503436.5:c.*740+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000503485.5	protein_coding	-	35/35	ENST00000503485.5:c.6018+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant,NMD_transcript_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000503607.5	nonsense_mediated_decay	-	33/33	ENST00000503607.5:c.*740+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant,NMD_transcript_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000504076.5	nonsense_mediated_decay	-	34/34	ENST00000504076.5:c.*740+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000505165.5	protein_coding	-	35/36	ENST00000505165.5:c.6120+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant,NMD_transcript_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000506406.5	nonsense_mediated_decay	-	35/35	ENST00000506406.5:c.*740+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000507336.5	protein_coding	-	36/36	ENST00000507336.5:c.6366+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000507510.6	protein_coding	-	36/36	ENST00000507510.6:c.6264+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000507609.5	protein_coding	-	35/35	ENST00000507609.5:c.6099+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000507896.5	protein_coding	-	34/35	ENST00000507896.5:c.6087+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000510115.5	protein_coding	-	34/34	ENST00000510115.5:c.6162+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000510366.5	protein_coding	-	34/34	ENST00000510366.5:c.5964+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant,NMD_transcript_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000511765.5	nonsense_mediated_decay	-	34/34	ENST00000511765.5:c.*740+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant,NMD_transcript_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000511768.5	nonsense_mediated_decay	-	34/34	ENST00000511768.5:c.*740+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000512389.5	protein_coding	-	34/34	ENST00000512389.5:c.6087+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000513689.6	protein_coding	-	35/35	ENST00000513689.6:c.6129+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000513964.5	protein_coding	-	34/34	ENST00000513964.5:c.5985+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000514079.5	protein_coding	-	35/35	ENST00000514079.5:c.6141+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000514181.5	protein_coding	-	34/34	ENST00000514181.5:c.6045+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000514717.5	protein_coding	-	34/34	ENST00000514717.5:c.5949+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000515165.5	protein_coding	-	35/35	ENST00000515165.5:c.6120+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000515411.5	protein_coding	-	35/35	ENST00000515411.5:c.6210+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	intron_variant	MODIFIER	CACNA1G	ENSG00000006283	Transcript	ENST00000515765.5	protein_coding	-	35/35	ENST00000515765.5:c.6231+23G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:1394	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50624552-50624552	T	downstream_gene_variant	MODIFIER	-	ENSG00000251239	Transcript	ENST00000746096.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	2478	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000285238.13	protein_coding	-	6/30	ENST00000285238.13:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	YES	MANE_Select	NM_003786.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000427699.5	protein_coding	-	6/11	ENST00000427699.5:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant,NMD_transcript_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000502426.5	nonsense_mediated_decay	-	6/29	ENST00000502426.5:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant,NMD_transcript_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000505699.5	nonsense_mediated_decay	-	6/29	ENST00000505699.5:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant,NMD_transcript_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000513511.5	nonsense_mediated_decay	-	7/7	ENST00000513511.5:c.*655+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	upstream_gene_variant	MODIFIER	ABCC3	ENSG00000108846	Transcript	ENST00000513589.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	3653	1	-	HGNC	HGNC:54	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	stop_lost,NMD_transcript_variant	HIGH	ABCC3	ENSG00000108846	Transcript	ENST00000515585.1	nonsense_mediated_decay	2/4	-	ENST00000515585.1:c.131G>T	ENSP00000424981.1:p.Ter44LeuextTer34	130	131	44	*/L	tGa/tTa	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:54	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	upstream_gene_variant	MODIFIER	ABCC3	ENSG00000108846	Transcript	ENST00000571855.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4661	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871892.1	protein_coding	-	7/31	ENST00000871892.1:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871893.1	protein_coding	-	6/29	ENST00000871893.1:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871894.1	protein_coding	-	5/29	ENST00000871894.1:c.497+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871895.1	protein_coding	-	6/30	ENST00000871895.1:c.650+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871896.1	protein_coding	-	6/30	ENST00000871896.1:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871897.1	protein_coding	-	5/29	ENST00000871897.1:c.536+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871898.1	protein_coding	-	6/30	ENST00000871898.1:c.620+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871899.1	protein_coding	-	6/29	ENST00000871899.1:c.620+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871900.1	protein_coding	-	3/27	ENST00000871900.1:c.233+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871901.1	protein_coding	-	6/29	ENST00000871901.1:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	intron_variant	MODIFIER	ABCC3	ENSG00000108846	Transcript	ENST00000871902.1	protein_coding	-	1/20	ENST00000871902.1:c.46-9055G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871903.1	protein_coding	-	6/31	ENST00000871903.1:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871904.1	protein_coding	-	6/30	ENST00000871904.1:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871905.1	protein_coding	-	6/30	ENST00000871905.1:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871906.1	protein_coding	-	4/28	ENST00000871906.1:c.359+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000871907.1	protein_coding	-	6/30	ENST00000871907.1:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000941182.1	protein_coding	-	7/30	ENST00000941182.1:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000941183.1	protein_coding	-	7/30	ENST00000941183.1:c.620+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000941184.1	protein_coding	-	6/28	ENST00000941184.1:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000941185.1	protein_coding	-	5/29	ENST00000941185.1:c.548+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000941186.1	protein_coding	-	6/28	ENST00000941186.1:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000941187.1	protein_coding	-	5/28	ENST00000941187.1:c.497+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000941188.1	protein_coding	-	6/26	ENST00000941188.1:c.674+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50658499-50658499	T	splice_donor_region_variant,intron_variant	LOW	ABCC3	ENSG00000108846	Transcript	ENST00000941189.1	protein_coding	-	3/26	ENST00000941189.1:c.233+3G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:54	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000262013.12	protein_coding	-	29/29	ENST00000262013.12:c.3851-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	YES	MANE_Select	NM_001130528.3	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000357122.8	protein_coding	-	28/28	ENST00000357122.8:c.3809-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000505279.5	protein_coding	-	29/29	ENST00000505279.5:c.3821-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant,non_coding_transcript_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000506500.1	retained_intron	-	2/2	ENST00000506500.1:n.741-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	upstream_gene_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000509724.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	911	-1	-	HGNC	HGNC:14524	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000510283.5	protein_coding	-	26/26	ENST00000510283.5:c.3419-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855101.1	protein_coding	-	29/29	ENST00000855101.1:c.3848-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855102.1	protein_coding	-	29/29	ENST00000855102.1:c.3806-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855103.1	protein_coding	-	29/29	ENST00000855103.1:c.3851-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855104.1	protein_coding	-	30/30	ENST00000855104.1:c.3890-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855105.1	protein_coding	-	28/28	ENST00000855105.1:c.3764-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855106.1	protein_coding	-	28/28	ENST00000855106.1:c.3812-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855107.1	protein_coding	-	27/27	ENST00000855107.1:c.3659-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855108.1	protein_coding	-	29/29	ENST00000855108.1:c.3917-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855109.1	protein_coding	-	29/29	ENST00000855109.1:c.3824-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855110.1	protein_coding	-	29/29	ENST00000855110.1:c.3803-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000933646.1	protein_coding	-	28/28	ENST00000933646.1:c.3809-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000933647.1	protein_coding	-	29/29	ENST00000933647.1:c.3776-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948171.1	protein_coding	-	30/30	ENST00000948171.1:c.3860-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948172.1	protein_coding	-	31/31	ENST00000948172.1:c.3902-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948173.1	protein_coding	-	28/28	ENST00000948173.1:c.3761-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948174.1	protein_coding	-	30/30	ENST00000948174.1:c.3893-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948175.1	protein_coding	-	30/30	ENST00000948175.1:c.3812-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948176.1	protein_coding	-	29/29	ENST00000948176.1:c.3776-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50966405-50966405	T	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948177.1	protein_coding	-	26/26	ENST00000948177.1:c.3422-18C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000262013.12	protein_coding	-	25/29	ENST00000262013.12:c.3238-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	YES	MANE_Select	NM_001130528.3	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000357122.8	protein_coding	-	24/28	ENST00000357122.8:c.3196-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000505279.5	protein_coding	-	25/29	ENST00000505279.5:c.3208-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	upstream_gene_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000506500.1	retained_intron	-	-	-	-	-	-	-	-	-	-	A	A/C	4657	-1	-	HGNC	HGNC:14524	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000510283.5	protein_coding	-	21/26	ENST00000510283.5:c.2767-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant,non_coding_transcript_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000511312.2	retained_intron	-	1/2	ENST00000511312.2:n.150-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant,NMD_transcript_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000513746.6	nonsense_mediated_decay	-	3/5	ENST00000513746.6:c.*-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	cds_start_NF	HGNC	HGNC:14524	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855101.1	protein_coding	-	24/29	ENST00000855101.1:c.3196-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855102.1	protein_coding	-	25/29	ENST00000855102.1:c.3193-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855103.1	protein_coding	-	24/29	ENST00000855103.1:c.3199-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855104.1	protein_coding	-	25/30	ENST00000855104.1:c.3238-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855105.1	protein_coding	-	24/28	ENST00000855105.1:c.3151-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855106.1	protein_coding	-	24/28	ENST00000855106.1:c.3199-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855107.1	protein_coding	-	24/27	ENST00000855107.1:c.3196-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855108.1	protein_coding	-	24/29	ENST00000855108.1:c.3265-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855109.1	protein_coding	-	25/29	ENST00000855109.1:c.3211-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000855110.1	protein_coding	-	24/29	ENST00000855110.1:c.3151-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000933646.1	protein_coding	-	24/28	ENST00000933646.1:c.3196-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000933647.1	protein_coding	-	25/29	ENST00000933647.1:c.3163-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948171.1	protein_coding	-	25/30	ENST00000948171.1:c.3208-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948172.1	protein_coding	-	26/31	ENST00000948172.1:c.3250-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948173.1	protein_coding	-	24/28	ENST00000948173.1:c.3148-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948174.1	protein_coding	-	25/30	ENST00000948174.1:c.3241-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948175.1	protein_coding	-	25/30	ENST00000948175.1:c.3160-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948176.1	protein_coding	-	25/29	ENST00000948176.1:c.3163-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:50980017-50980017	C	intron_variant	MODIFIER	SPAG9	ENSG00000008294	Transcript	ENST00000948177.1	protein_coding	-	21/26	ENST00000948177.1:c.2770-100T>G	-	-	-	-	-	-	-	A	A/C	-	-1	-	HGNC	HGNC:14524	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:53822975-53822975	T	5_prime_UTR_variant	MODIFIER	KIF2B	ENSG00000141200	Transcript	ENST00000268919.6	protein_coding	1/1	-	ENST00000268919.6:c.-59G>T	-	49	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29443	YES	MANE_Select	NM_032559.5	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:53822975-53822975	T	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000285939	Transcript	ENST00000650577.1	lncRNA	-	4/6	ENST00000650577.1:n.659+16857C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:53822975-53822975	T	upstream_gene_variant	MODIFIER	-	ENSG00000299234	Transcript	ENST00000761739.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	124	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:53822975-53822975	T	upstream_gene_variant	MODIFIER	-	ENSG00000299234	Transcript	ENST00000761740.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	166	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:53822975-53822975	T	upstream_gene_variant	MODIFIER	-	ENSG00000299234	Transcript	ENST00000761741.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	101	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:53822975-53822975	T	upstream_gene_variant	MODIFIER	-	ENSG00000299234	Transcript	ENST00000761742.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	121	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000424486.3	protein_coding	2/2	-	ENST00000424486.3:c.255C>T	ENSP00000395328.2:p.Ile85%3D	566	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	YES	MANE_Select	NM_018286.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	downstream_gene_variant	MODIFIER	TMEM100	ENSG00000166292	Transcript	ENST00000570586.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	COSV107524505	G	G/A	685	-1	-	HGNC	HGNC:25607	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000571679.1	protein_coding	2/2	-	ENST00000571679.1:c.255C>T	ENSP00000459290.1:p.Ile85%3D	587	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	cds_end_NF	HGNC	HGNC:25607	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	downstream_gene_variant	MODIFIER	TMEM100	ENSG00000166292	Transcript	ENST00000575685.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	COSV107524505	G	G/A	647	-1	-	HGNC	HGNC:25607	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000575734.5	protein_coding	4/4	-	ENST00000575734.5:c.255C>T	ENSP00000465638.1:p.Ile85%3D	1064	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	2	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	downstream_gene_variant	MODIFIER	TMEM100	ENSG00000166292	Transcript	ENST00000575806.1	retained_intron	-	-	-	-	-	-	-	-	-	COSV107524505	G	G/A	1740	-1	-	HGNC	HGNC:25607	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893789.1	protein_coding	3/3	-	ENST00000893789.1:c.255C>T	ENSP00000563848.1:p.Ile85%3D	844	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893790.1	protein_coding	4/4	-	ENST00000893790.1:c.255C>T	ENSP00000563849.1:p.Ile85%3D	1707	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893791.1	protein_coding	4/4	-	ENST00000893791.1:c.255C>T	ENSP00000563850.1:p.Ile85%3D	1030	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893792.1	protein_coding	4/4	-	ENST00000893792.1:c.255C>T	ENSP00000563851.1:p.Ile85%3D	784	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893793.1	protein_coding	5/5	-	ENST00000893793.1:c.255C>T	ENSP00000563852.1:p.Ile85%3D	1145	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893794.1	protein_coding	2/2	-	ENST00000893794.1:c.255C>T	ENSP00000563853.1:p.Ile85%3D	2327	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893795.1	protein_coding	3/3	-	ENST00000893795.1:c.255C>T	ENSP00000563854.1:p.Ile85%3D	726	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893796.1	protein_coding	2/2	-	ENST00000893796.1:c.255C>T	ENSP00000563855.1:p.Ile85%3D	2198	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893797.1	protein_coding	3/3	-	ENST00000893797.1:c.255C>T	ENSP00000563856.1:p.Ile85%3D	664	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893798.1	protein_coding	2/2	-	ENST00000893798.1:c.255C>T	ENSP00000563857.1:p.Ile85%3D	2099	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893799.1	protein_coding	3/3	-	ENST00000893799.1:c.255C>T	ENSP00000563858.1:p.Ile85%3D	622	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893800.1	protein_coding	4/4	-	ENST00000893800.1:c.255C>T	ENSP00000563859.1:p.Ile85%3D	554	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893801.1	protein_coding	3/3	-	ENST00000893801.1:c.255C>T	ENSP00000563860.1:p.Ile85%3D	1136	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893802.1	protein_coding	3/3	-	ENST00000893802.1:c.255C>T	ENSP00000563861.1:p.Ile85%3D	1133	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893803.1	protein_coding	4/4	-	ENST00000893803.1:c.255C>T	ENSP00000563862.1:p.Ile85%3D	540	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893804.1	protein_coding	3/3	-	ENST00000893804.1:c.255C>T	ENSP00000563863.1:p.Ile85%3D	813	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893805.1	protein_coding	3/3	-	ENST00000893805.1:c.255C>T	ENSP00000563864.1:p.Ile85%3D	530	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893806.1	protein_coding	2/2	-	ENST00000893806.1:c.255C>T	ENSP00000563865.1:p.Ile85%3D	575	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893807.1	protein_coding	2/2	-	ENST00000893807.1:c.255C>T	ENSP00000563866.1:p.Ile85%3D	1249	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893808.1	protein_coding	2/2	-	ENST00000893808.1:c.255C>T	ENSP00000563867.1:p.Ile85%3D	1246	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893809.1	protein_coding	2/2	-	ENST00000893809.1:c.255C>T	ENSP00000563868.1:p.Ile85%3D	614	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893810.1	protein_coding	3/3	-	ENST00000893810.1:c.255C>T	ENSP00000563869.1:p.Ile85%3D	653	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893811.1	protein_coding	2/2	-	ENST00000893811.1:c.255C>T	ENSP00000563870.1:p.Ile85%3D	390	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000893812.1	protein_coding	2/2	-	ENST00000893812.1:c.255C>T	ENSP00000563871.1:p.Ile85%3D	671	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000948271.1	protein_coding	3/3	-	ENST00000948271.1:c.255C>T	ENSP00000618330.1:p.Ile85%3D	536	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:55720816-55720816	A	synonymous_variant	LOW	TMEM100	ENSG00000166292	Transcript	ENST00000948272.1	protein_coding	3/3	-	ENST00000948272.1:c.255C>T	ENSP00000618331.1:p.Ile85%3D	645	255	85	I	atC/atT	COSV107524505	G	G/A	-	-1	-	HGNC	HGNC:25607	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:57005976-57005976	T	intron_variant	MODIFIER	SCPEP1	ENSG00000121064	Transcript	ENST00000262288.8	protein_coding	-	12/12	ENST00000262288.8:c.1297-197A>T	-	-	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:29507	YES	MANE_Select	NM_021626.3	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57005976-57005976	T	intron_variant,non_coding_transcript_variant	MODIFIER	SCPEP1	ENSG00000121064	Transcript	ENST00000570479.1	retained_intron	-	3/3	ENST00000570479.1:n.511-197A>T	-	-	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:29507	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57005976-57005976	T	intron_variant	MODIFIER	SCPEP1	ENSG00000121064	Transcript	ENST00000573239.1	protein_coding	-	3/3	ENST00000573239.1:c.345-197A>T	-	-	-	-	-	-	-	A	A/T	-	1	cds_start_NF	HGNC	HGNC:29507	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57005976-57005976	T	intron_variant,NMD_transcript_variant	MODIFIER	SCPEP1	ENSG00000121064	Transcript	ENST00000575423.5	nonsense_mediated_decay	-	12/12	ENST00000575423.5:c.*1052-197A>T	-	-	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:29507	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57005976-57005976	T	intron_variant,NMD_transcript_variant	MODIFIER	SCPEP1	ENSG00000121064	Transcript	ENST00000576154.5	nonsense_mediated_decay	-	12/12	ENST00000576154.5:c.*417-197A>T	-	-	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:29507	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57005976-57005976	T	intron_variant	MODIFIER	SCPEP1	ENSG00000121064	Transcript	ENST00000858469.1	protein_coding	-	12/12	ENST00000858469.1:c.1291-197A>T	-	-	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:29507	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57005976-57005976	T	intron_variant	MODIFIER	SCPEP1	ENSG00000121064	Transcript	ENST00000858470.1	protein_coding	-	12/12	ENST00000858470.1:c.1294-197A>T	-	-	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:29507	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57005976-57005976	T	intron_variant	MODIFIER	SCPEP1	ENSG00000121064	Transcript	ENST00000858471.1	protein_coding	-	9/9	ENST00000858471.1:c.1036-197A>T	-	-	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:29507	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57005976-57005976	T	intron_variant	MODIFIER	SCPEP1	ENSG00000121064	Transcript	ENST00000914327.1	protein_coding	-	11/11	ENST00000914327.1:c.1096-197A>T	-	-	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:29507	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57005976-57005976	T	intron_variant	MODIFIER	SCPEP1	ENSG00000121064	Transcript	ENST00000914328.1	protein_coding	-	8/8	ENST00000914328.1:c.922-197A>T	-	-	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:29507	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57005976-57005976	T	intron_variant	MODIFIER	SCPEP1	ENSG00000121064	Transcript	ENST00000951949.1	protein_coding	-	13/13	ENST00000951949.1:c.1345-197A>T	-	-	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:29507	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000284073.7	protein_coding	-	11/13	ENST00000284073.7:c.791-162G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	YES	MANE_Select	NM_138962.4	-	1	P3	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000416426.6	protein_coding	-	11/13	ENST00000416426.6:c.725-108G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	2	-	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000442934.6	protein_coding	-	7/9	ENST00000442934.6:c.608-162G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	2	-	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant,non_coding_transcript_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000579466.1	protein_coding_CDS_not_defined	-	1/1	ENST00000579466.1:n.102-162G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	3	-	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant,non_coding_transcript_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000579505.5	protein_coding_CDS_not_defined	-	6/6	ENST00000579505.5:n.436-108G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	3	-	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000674522.2	protein_coding	-	11/12	ENST00000674522.2:c.791-162G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	-	-	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000674964.1	protein_coding	-	11/13	ENST00000674964.1:c.791-162G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	-	P3	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant,NMD_transcript_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000675127.1	nonsense_mediated_decay	-	2/3	ENST00000675127.1:c.114-162G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	cds_start_NF	HGNC	HGNC:18585	-	-	-	-	-	-	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000675379.1	protein_coding	-	1/1	ENST00000675379.1:c.64-4739G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	cds_start_NF	HGNC	HGNC:18585	-	-	-	-	-	-	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000675656.1	protein_coding	-	12/14	ENST00000675656.1:c.776-108G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	cds_start_NF	HGNC	HGNC:18585	-	-	-	-	-	-	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000851004.1	protein_coding	-	11/11	ENST00000851004.1:c.791-4739G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	-	-	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000902708.1	protein_coding	-	10/12	ENST00000902708.1:c.728-162G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	-	-	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000902709.1	protein_coding	-	12/14	ENST00000902709.1:c.815-162G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	-	A1	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000902710.1	protein_coding	-	11/12	ENST00000902710.1:c.791-162G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	-	P3	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000902711.1	protein_coding	-	12/14	ENST00000902711.1:c.875-162G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	-	-	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000902712.1	protein_coding	-	11/13	ENST00000902712.1:c.779-108G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	-	-	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:57674810-57674810	T	intron_variant	MODIFIER	MSI2	ENSG00000153944	Transcript	ENST00000940605.1	protein_coding	-	11/13	ENST00000940605.1:c.791-162G>T	-	-	-	-	-	-	rs1913100336	G	G/T	-	1	-	HGNC	HGNC:18585	-	-	-	-	-	P3	-	-	-	-	1.147e-06	0	0	0	2.87e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58155135-58155135	T	splice_region_variant,5_prime_UTR_variant	LOW	OR4D1	ENSG00000141194	Transcript	ENST00000268912.6	protein_coding	4/4	-	ENST00000268912.6:c.-19G>T	-	677	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8293	YES	MANE_Select	NM_001386095.1	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58155135-58155135	T	upstream_gene_variant	MODIFIER	MSX2P1	ENSG00000229590	Transcript	ENST00000584100.1	processed_pseudogene	-	-	-	-	-	-	-	-	-	-	G	G/T	1893	1	-	HGNC	HGNC:24976	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58155135-58155135	T	splice_region_variant,5_prime_UTR_variant	LOW	OR4D1	ENSG00000141194	Transcript	ENST00000641449.1	protein_coding	3/3	-	ENST00000641449.1:c.-19G>T	-	505	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8293	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58249650-58249650	T	synonymous_variant	LOW	LPO	ENSG00000167419	Transcript	ENST00000262290.9	protein_coding	6/13	-	ENST00000262290.9:c.528C>T	ENSP00000262290.4:p.Phe176%3D	686	528	176	F	ttC/ttT	COSV51858221,COSV51861894	C	C/T	-	1	-	HGNC	HGNC:6678	YES	MANE_Select	NM_006151.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:58249650-58249650	T	upstream_gene_variant	MODIFIER	LPO	ENSG00000167419	Transcript	ENST00000389576.4	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV51858221,COSV51861894	C	C/T	2532	1	cds_start_NF	HGNC	HGNC:6678	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:58249650-58249650	T	synonymous_variant	LOW	LPO	ENSG00000167419	Transcript	ENST00000421678.6	protein_coding	4/11	-	ENST00000421678.6:c.279C>T	ENSP00000400245.2:p.Phe93%3D	595	279	93	F	ttC/ttT	COSV51858221,COSV51861894	C	C/T	-	1	-	HGNC	HGNC:6678	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:58249650-58249650	T	synonymous_variant	LOW	LPO	ENSG00000167419	Transcript	ENST00000543544.5	protein_coding	5/12	-	ENST00000543544.5:c.351C>T	ENSP00000445344.1:p.Phe117%3D	591	351	117	F	ttC/ttT	COSV51858221,COSV51861894	C	C/T	-	1	-	HGNC	HGNC:6678	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:58249650-58249650	T	non_coding_transcript_exon_variant	MODIFIER	LPO	ENSG00000167419	Transcript	ENST00000578403.5	retained_intron	6/7	-	ENST00000578403.5:n.599C>T	-	599	-	-	-	-	COSV51858221,COSV51861894	C	C/T	-	1	-	HGNC	HGNC:6678	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:58249650-58249650	T	non_coding_transcript_exon_variant	MODIFIER	LPO	ENSG00000167419	Transcript	ENST00000578643.1	retained_intron	4/5	-	ENST00000578643.1:n.1895C>T	-	1895	-	-	-	-	COSV51858221,COSV51861894	C	C/T	-	1	-	HGNC	HGNC:6678	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:58249650-58249650	T	non_coding_transcript_exon_variant	MODIFIER	LPO	ENSG00000167419	Transcript	ENST00000580346.5	retained_intron	4/5	-	ENST00000580346.5:n.320C>T	-	320	-	-	-	-	COSV51858221,COSV51861894	C	C/T	-	1	-	HGNC	HGNC:6678	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:58249650-58249650	T	synonymous_variant,NMD_transcript_variant	LOW	LPO	ENSG00000167419	Transcript	ENST00000580890.5	nonsense_mediated_decay	2/9	-	ENST00000580890.5:c.165C>T	ENSP00000462752.1:p.Phe55%3D	165	165	55	F	ttC/ttT	COSV51858221,COSV51861894	C	C/T	-	1	cds_start_NF	HGNC	HGNC:6678	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:58249650-58249650	T	synonymous_variant	LOW	LPO	ENSG00000167419	Transcript	ENST00000581008.1	protein_coding	5/5	-	ENST00000581008.1:c.351C>T	ENSP00000464643.1:p.Phe117%3D	567	351	117	F	ttC/ttT	COSV51858221,COSV51861894	C	C/T	-	1	cds_end_NF	HGNC	HGNC:6678	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:58249650-58249650	T	synonymous_variant	LOW	LPO	ENSG00000167419	Transcript	ENST00000582328.5	protein_coding	6/13	-	ENST00000582328.5:c.279C>T	ENSP00000464636.1:p.Phe93%3D	837	279	93	F	ttC/ttT	COSV51858221,COSV51861894	C	C/T	-	1	-	HGNC	HGNC:6678	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:58249650-58249650	T	upstream_gene_variant	MODIFIER	-	ENSG00000286788	Transcript	ENST00000655053.1	lncRNA	-	-	-	-	-	-	-	-	-	COSV51858221,COSV51861894	C	C/T	2265	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:58249650-58249650	T	synonymous_variant	LOW	LPO	ENSG00000167419	Transcript	ENST00000866990.1	protein_coding	6/11	-	ENST00000866990.1:c.528C>T	ENSP00000537049.1:p.Phe176%3D	569	528	176	F	ttC/ttT	COSV51858221,COSV51861894	C	C/T	-	1	-	HGNC	HGNC:6678	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-	-	-	-
.	17:58579682-58579682	T	missense_variant	MODERATE	TEX14	ENSG00000121101	Transcript	ENST00000240361.12	protein_coding	21/33	-	ENST00000240361.12:c.3359C>A	ENSP00000240361.8:p.Ala1120Asp	3445	3359	1120	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:11737	-	-	-	-	1	A2	-	deleterious(0.04)	probably_damaging(0.944)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.1505	-	-	-	-
.	17:58579682-58579682	T	missense_variant	MODERATE	TEX14	ENSG00000121101	Transcript	ENST00000349033.10	protein_coding	20/32	-	ENST00000349033.10:c.3221C>A	ENSP00000268910.8:p.Ala1074Asp	3329	3221	1074	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:11737	YES	MANE_Select	NM_031272.5	-	5	A2	-	tolerated(0.06)	probably_damaging(0.975)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58579682-58579682	T	missense_variant	MODERATE	TEX14	ENSG00000121101	Transcript	ENST00000389934.7	protein_coding	21/33	-	ENST00000389934.7:c.3341C>A	ENSP00000374584.3:p.Ala1114Asp	3459	3341	1114	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:11737	-	-	-	-	1	P4	-	deleterious(0.04)	probably_damaging(0.975)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58579682-58579682	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	TEX14	ENSG00000121101	Transcript	ENST00000582740.1	nonsense_mediated_decay	20/32	-	ENST00000582740.1:c.*3059C>A	-	3368	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:11737	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58579682-58579682	T	intron_variant,non_coding_transcript_variant	MODIFIER	SEPTIN4-AS1	ENSG00000264672	Transcript	ENST00000739998.1	lncRNA	-	4/4	ENST00000739998.1:n.721-3770G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:51345	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58579682-58579682	T	intron_variant,non_coding_transcript_variant	MODIFIER	SEPTIN4-AS1	ENSG00000264672	Transcript	ENST00000739999.1	lncRNA	-	4/4	ENST00000739999.1:n.434-3770G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:51345	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58579682-58579682	T	downstream_gene_variant	MODIFIER	SEPTIN4-AS1	ENSG00000264672	Transcript	ENST00000740000.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	4990	1	-	HGNC	HGNC:51345	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58579682-58579682	T	missense_variant	MODERATE	TEX14	ENSG00000121101	Transcript	ENST00000917420.1	protein_coding	20/32	-	ENST00000917420.1:c.3221C>A	ENSP00000587479.1:p.Ala1074Asp	3387	3221	1074	A/D	gCc/gAc	-	G	G/T	-	-1	-	HGNC	HGNC:11737	-	-	-	-	-	A2	-	tolerated(0.06)	probably_damaging(0.975)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000337432.9	protein_coding	-	5/8	ENST00000337432.9:c.837+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	YES	MANE_Select	NM_058216.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000413590.5	protein_coding	-	4/7	ENST00000413590.5:c.475+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:9820	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	downstream_gene_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000425173.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	278	1	cds_start_NF,cds_end_NF	HGNC	HGNC:9820	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000461271.6	protein_coding	-	5/7	ENST00000461271.6:c.486+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,NMD_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000475762.5	nonsense_mediated_decay	-	5/7	ENST00000475762.5:c.*1540+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,NMD_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000482007.5	nonsense_mediated_decay	-	4/7	ENST00000482007.5:c.*265+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,NMD_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000487525.5	nonsense_mediated_decay	-	5/8	ENST00000487525.5:c.*410+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	downstream_gene_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000487921.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	4241	1	-	HGNC	HGNC:9820	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,non_coding_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000578151.1	retained_intron	-	1/2	ENST00000578151.1:n.172+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,non_coding_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000581221.5	retained_intron	-	1/4	ENST00000581221.5:n.352+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000583539.5	protein_coding	-	5/7	ENST00000583539.5:c.837+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,NMD_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000584617.5	nonsense_mediated_decay	-	4/6	ENST00000584617.5:c.*416+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:9820	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000584804.1	protein_coding	-	1/3	ENST00000584804.1:c.132+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:9820	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,non_coding_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697678.1	retained_intron	-	5/5	ENST00000697678.1:n.739+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,non_coding_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697679.1	retained_intron	-	5/5	ENST00000697679.1:n.1911+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,NMD_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697680.1	nonsense_mediated_decay	-	5/9	ENST00000697680.1:c.*1701+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,NMD_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697681.1	nonsense_mediated_decay	-	7/10	ENST00000697681.1:c.*1998+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,NMD_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697683.1	nonsense_mediated_decay	-	5/9	ENST00000697683.1:c.*1701+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,non_coding_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697684.1	protein_coding_CDS_not_defined	-	5/7	ENST00000697684.1:n.897+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,NMD_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697685.1	nonsense_mediated_decay	-	4/7	ENST00000697685.1:c.*1534+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697686.1	protein_coding	-	5/9	ENST00000697686.1:c.486+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,non_coding_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697687.1	retained_intron	-	4/5	ENST00000697687.1:n.716+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,non_coding_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697688.1	retained_intron	-	5/6	ENST00000697688.1:n.883+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,NMD_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697689.1	nonsense_mediated_decay	-	4/5	ENST00000697689.1:c.*1373+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697690.1	protein_coding	-	5/6	ENST00000697690.1:c.837+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,NMD_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697691.1	nonsense_mediated_decay	-	6/9	ENST00000697691.1:c.*809+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,NMD_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697692.1	nonsense_mediated_decay	-	5/8	ENST00000697692.1:c.*849+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697694.1	protein_coding	-	5/8	ENST00000697694.1:c.486+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant,non_coding_transcript_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000697695.1	protein_coding_CDS_not_defined	-	5/8	ENST00000697695.1:n.1444+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000875229.1	protein_coding	-	6/9	ENST00000875229.1:c.885+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000930423.1	protein_coding	-	5/9	ENST00000930423.1:c.837+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000930424.1	protein_coding	-	5/5	ENST00000930424.1:c.837+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:58710154-58710154	T	intron_variant	MODIFIER	RAD51C	ENSG00000108384	Transcript	ENST00000948099.1	protein_coding	-	5/8	ENST00000948099.1:c.726+164G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:9820	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000262294.12	protein_coding	-	8/23	ENST00000262294.12:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	YES	MANE_Select	NM_015294.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000393065.6	protein_coding	-	7/22	ENST00000393065.6:c.583-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000393066.7	protein_coding	-	8/24	ENST00000393066.7:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant,NMD_transcript_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000577554.5	nonsense_mediated_decay	-	9/23	ENST00000577554.5:c.*557-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	downstream_gene_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000580973.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	4615	-1	-	HGNC	HGNC:7523	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000581468.1	protein_coding	-	4/7	ENST00000581468.1:c.307-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF,cds_end_NF	HGNC	HGNC:7523	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant,non_coding_transcript_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000582852.1	retained_intron	-	2/3	ENST00000582852.1:n.123-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885243.1	protein_coding	-	8/22	ENST00000885243.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885244.1	protein_coding	-	8/22	ENST00000885244.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885245.1	protein_coding	-	7/20	ENST00000885245.1:c.583-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885246.1	protein_coding	-	8/23	ENST00000885246.1:c.685-185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885247.1	protein_coding	-	8/23	ENST00000885247.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885248.1	protein_coding	-	4/18	ENST00000885248.1:c.282-6664C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885249.1	protein_coding	-	8/22	ENST00000885249.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885250.1	protein_coding	-	8/22	ENST00000885250.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885251.1	protein_coding	-	8/21	ENST00000885251.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885252.1	protein_coding	-	7/21	ENST00000885252.1:c.583-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885253.1	protein_coding	-	8/20	ENST00000885253.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885254.1	protein_coding	-	7/22	ENST00000885254.1:c.568-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885255.1	protein_coding	-	8/21	ENST00000885255.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885256.1	protein_coding	-	7/22	ENST00000885256.1:c.583-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885257.1	protein_coding	-	8/19	ENST00000885257.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885258.1	protein_coding	-	8/22	ENST00000885258.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885259.1	protein_coding	-	8/21	ENST00000885259.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000885260.1	protein_coding	-	8/22	ENST00000885260.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938624.1	protein_coding	-	8/22	ENST00000938624.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938625.1	protein_coding	-	8/20	ENST00000938625.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938626.1	protein_coding	-	7/21	ENST00000938626.1:c.583-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938627.1	protein_coding	-	8/23	ENST00000938627.1:c.685-101C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938628.1	protein_coding	-	8/22	ENST00000938628.1:c.685-185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938629.1	protein_coding	-	7/21	ENST00000938629.1:c.583-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938630.1	protein_coding	-	7/21	ENST00000938630.1:c.583-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938631.1	protein_coding	-	8/22	ENST00000938631.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938632.1	protein_coding	-	8/22	ENST00000938632.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938633.1	protein_coding	-	8/23	ENST00000938633.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938634.1	protein_coding	-	7/21	ENST00000938634.1:c.583-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938635.1	protein_coding	-	8/22	ENST00000938635.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938636.1	protein_coding	-	9/24	ENST00000938636.1:c.736-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000938637.1	protein_coding	-	7/19	ENST00000938637.1:c.583-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000964646.1	protein_coding	-	8/21	ENST00000964646.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000964647.1	protein_coding	-	8/21	ENST00000964647.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000964648.1	protein_coding	-	8/23	ENST00000964648.1:c.697-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000964649.1	protein_coding	-	8/21	ENST00000964649.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000964650.1	protein_coding	-	7/22	ENST00000964650.1:c.583-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000964651.1	protein_coding	-	4/15	ENST00000964651.1:c.282-14015C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000964652.1	protein_coding	-	8/21	ENST00000964652.1:c.685-122C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000964653.1	protein_coding	-	8/22	ENST00000964653.1:c.685-185C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59071069-59071069	T	intron_variant	MODIFIER	TRIM37	ENSG00000108395	Transcript	ENST00000964654.1	protein_coding	-	8/23	ENST00000964654.1:c.685-101C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:7523	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59172221-59172221	T	intron_variant	MODIFIER	PRR11	ENSG00000068489	Transcript	ENST00000262293.9	protein_coding	-	2/9	ENST00000262293.9:c.128+2341G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25619	YES	MANE_Select	NM_018304.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59172221-59172221	T	downstream_gene_variant	MODIFIER	PRR11	ENSG00000068489	Transcript	ENST00000577457.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2402	1	cds_end_NF	HGNC	HGNC:25619	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59172221-59172221	T	intron_variant,NMD_transcript_variant	MODIFIER	PRR11	ENSG00000068489	Transcript	ENST00000578542.5	nonsense_mediated_decay	-	2/10	ENST00000578542.5:c.128+2341G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25619	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59172221-59172221	T	intron_variant	MODIFIER	PRR11	ENSG00000068489	Transcript	ENST00000578777.5	protein_coding	-	4/6	ENST00000578777.5:c.128+2341G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:25619	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59172221-59172221	T	intron_variant,NMD_transcript_variant	MODIFIER	PRR11	ENSG00000068489	Transcript	ENST00000580177.5	nonsense_mediated_decay	-	2/10	ENST00000580177.5:c.128+2341G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25619	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59172221-59172221	T	intron_variant,non_coding_transcript_variant	MODIFIER	PRR11	ENSG00000068489	Transcript	ENST00000581182.1	retained_intron	-	2/2	ENST00000581182.1:n.186+2341G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25619	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59172221-59172221	T	downstream_gene_variant	MODIFIER	SPDYE22P	ENSG00000266537	Transcript	ENST00000582158.1	transcribed_unprocessed_pseudogene	-	-	-	-	-	-	-	-	-	-	G	G/T	2762	-1	-	HGNC	HGNC:51518	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59172221-59172221	T	intron_variant	MODIFIER	PRR11	ENSG00000068489	Transcript	ENST00000582995.5	protein_coding	-	3/4	ENST00000582995.5:c.209+2341G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:25619	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59172221-59172221	T	intron_variant	MODIFIER	PRR11	ENSG00000068489	Transcript	ENST00000614081.1	protein_coding	-	2/10	ENST00000614081.1:c.128+2341G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25619	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59172221-59172221	T	downstream_gene_variant	MODIFIER	-	ENSG00000294277	Transcript	ENST00000722354.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1437	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59172221-59172221	T	downstream_gene_variant	MODIFIER	-	ENSG00000294277	Transcript	ENST00000722355.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1459	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59172221-59172221	T	upstream_gene_variant	MODIFIER	-	ENSG00000294292	Transcript	ENST00000722531.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	1105	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59210621-59210621	T	downstream_gene_variant	MODIFIER	PRR11	ENSG00000068489	Transcript	ENST00000262293.9	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3912	1	-	HGNC	HGNC:25619	YES	MANE_Select	NM_018304.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59210621-59210621	T	missense_variant	MODERATE	SMG8	ENSG00000167447	Transcript	ENST00000300917.10	protein_coding	1/4	-	ENST00000300917.10:c.570G>T	ENSP00000300917.4:p.Lys190Asn	587	570	190	K/N	aaG/aaT	-	G	G/T	-	1	-	HGNC	HGNC:25551	YES	MANE_Select	NM_018149.7	-	1	P3	-	deleterious(0)	possibly_damaging(0.84)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.9852	-	-	-	-
.	17:59210621-59210621	T	missense_variant	MODERATE	SMG8	ENSG00000167447	Transcript	ENST00000543872.6	protein_coding	2/5	-	ENST00000543872.6:c.570G>T	ENSP00000438748.2:p.Lys190Asn	834	570	190	K/N	aaG/aaT	-	G	G/T	-	1	-	HGNC	HGNC:25551	-	-	-	-	5	P3	-	deleterious(0)	possibly_damaging(0.84)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.9852	-	-	-	-
.	17:59210621-59210621	T	missense_variant	MODERATE	SMG8	ENSG00000167447	Transcript	ENST00000578922.1	protein_coding	1/1	-	ENST00000578922.1:c.570G>T	ENSP00000462119.1:p.Lys190Asn	755	570	190	K/N	aaG/aaT	-	G	G/T	-	1	-	HGNC	HGNC:25551	-	-	-	-	-	-	-	deleterious(0)	possibly_damaging(0.717)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.9852	-	-	-	-
.	17:59210621-59210621	T	intron_variant,non_coding_transcript_variant	MODIFIER	SMG8	ENSG00000167447	Transcript	ENST00000580498.5	protein_coding_CDS_not_defined	-	1/2	ENST00000580498.5:n.240+360G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:25551	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59210621-59210621	T	upstream_gene_variant	MODIFIER	SMG8	ENSG00000167447	Transcript	ENST00000580798.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	1101	1	cds_start_NF	HGNC	HGNC:25551	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59210621-59210621	T	upstream_gene_variant	MODIFIER	SMG8	ENSG00000167447	Transcript	ENST00000582469.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	802	1	cds_start_NF	HGNC	HGNC:25551	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59210621-59210621	T	missense_variant	MODERATE	SMG8	ENSG00000167447	Transcript	ENST00000909752.1	protein_coding	1/4	-	ENST00000909752.1:c.570G>T	ENSP00000579811.1:p.Lys190Asn	587	570	190	K/N	aaG/aaT	-	G	G/T	-	1	-	HGNC	HGNC:25551	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.9852	-	-	-	-
.	17:59210621-59210621	T	missense_variant	MODERATE	SMG8	ENSG00000167447	Transcript	ENST00000913252.1	protein_coding	1/4	-	ENST00000913252.1:c.570G>T	ENSP00000583311.1:p.Lys190Asn	603	570	190	K/N	aaG/aaT	-	G	G/T	-	1	-	HGNC	HGNC:25551	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.9852	-	-	-	-
.	17:59210621-59210621	T	missense_variant	MODERATE	SMG8	ENSG00000167447	Transcript	ENST00000913253.1	protein_coding	1/4	-	ENST00000913253.1:c.570G>T	ENSP00000583312.1:p.Lys190Asn	595	570	190	K/N	aaG/aaT	-	G	G/T	-	1	-	HGNC	HGNC:25551	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.9852	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000251334.7	protein_coding	24/25	-	ENST00000251334.7:c.3364C>A	ENSP00000251334.6:p.Gln1122Lys	3711	3364	1122	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	YES	MANE_Select	NM_001351695.2	-	2	P1	-	tolerated(0.11)	benign(0.06)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000259008.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4362	-1	-	HGNC	HGNC:20473	YES	MANE_Select	NM_032043.3	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000444766.7	protein_coding	24/25	-	ENST00000444766.7:c.3388C>A	ENSP00000414237.3:p.Gln1130Lys	3464	3388	1130	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	1	-	-	tolerated(0.1)	benign(0.06)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.1931	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000577913.2	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4331	-1	-	HGNC	HGNC:20473	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	downstream_gene_variant	MODIFIER	INTS2	ENSG00000108506	Transcript	ENST00000583822.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4133	-1	-	HGNC	HGNC:29241	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000584322.2	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4563	-1	-	HGNC	HGNC:20473	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	INTS2	ENSG00000108506	Transcript	ENST00000646745.1	nonsense_mediated_decay	25/26	-	ENST00000646745.1:c.*2885C>A	-	3832	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000647009.1	protein_coding	24/25	-	ENST00000647009.1:c.3364C>A	ENSP00000496407.1:p.Gln1122Lys	3443	3364	1122	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	-	P1	-	tolerated(0.11)	benign(0.06)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000682369.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4520	-1	-	HGNC	HGNC:20473	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000682453.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4377	-1	-	HGNC	HGNC:20473	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000682477.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	4428	-1	-	HGNC	HGNC:20473	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000682589.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4610	-1	-	HGNC	HGNC:20473	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000682989.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4390	-1	-	HGNC	HGNC:20473	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000683039.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4481	-1	-	HGNC	HGNC:20473	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000683235.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	4380	-1	-	HGNC	HGNC:20473	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000683381.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4481	-1	-	HGNC	HGNC:20473	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000683672.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4397	-1	-	HGNC	HGNC:20473	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000854938.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4366	-1	-	HGNC	HGNC:20473	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000854939.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4329	-1	-	HGNC	HGNC:20473	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000866719.1	protein_coding	23/24	-	ENST00000866719.1:c.3364C>A	ENSP00000536778.1:p.Gln1122Lys	4702	3364	1122	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	-	P1	-	tolerated(0.11)	benign(0.06)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000866720.1	protein_coding	24/25	-	ENST00000866720.1:c.3283C>A	ENSP00000536779.1:p.Gln1095Lys	3448	3283	1095	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000866721.1	protein_coding	23/24	-	ENST00000866721.1:c.3250C>A	ENSP00000536780.1:p.Gln1084Lys	3592	3250	1084	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000913652.1	protein_coding	18/19	-	ENST00000913652.1:c.2476C>A	ENSP00000583711.1:p.Gln826Lys	2823	2476	826	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000913653.1	protein_coding	23/24	-	ENST00000913653.1:c.3250C>A	ENSP00000583712.1:p.Gln1084Lys	3314	3250	1084	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000913654.1	protein_coding	23/24	-	ENST00000913654.1:c.3250C>A	ENSP00000583713.1:p.Gln1084Lys	3329	3250	1084	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000913655.1	protein_coding	24/25	-	ENST00000913655.1:c.3286C>A	ENSP00000583714.1:p.Gln1096Lys	3618	3286	1096	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000913656.1	protein_coding	23/24	-	ENST00000913656.1:c.3256C>A	ENSP00000583715.1:p.Gln1086Lys	3578	3256	1086	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000923498.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4349	-1	-	HGNC	HGNC:20473	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	upstream_gene_variant	MODIFIER	BRIP1	ENSG00000136492	Transcript	ENST00000923499.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4389	-1	-	HGNC	HGNC:20473	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000963385.1	protein_coding	24/25	-	ENST00000963385.1:c.3364C>A	ENSP00000633444.1:p.Gln1122Lys	3564	3364	1122	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	-	P1	-	tolerated(0.11)	benign(0.06)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:61867890-61867890	T	missense_variant	MODERATE	INTS2	ENSG00000108506	Transcript	ENST00000963386.1	protein_coding	23/24	-	ENST00000963386.1:c.3229C>A	ENSP00000633445.1:p.Gln1077Lys	3541	3229	1077	Q/K	Caa/Aaa	-	G	G/T	-	-1	-	HGNC	HGNC:29241	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:62675729-62675729	T	intron_variant	MODIFIER	MRC2	ENSG00000011028	Transcript	ENST00000303375.10	protein_coding	-	9/29	ENST00000303375.10:c.1570-61G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16875	YES	MANE_Select	NM_006039.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:62675729-62675729	T	upstream_gene_variant	MODIFIER	MRC2	ENSG00000011028	Transcript	ENST00000583597.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4902	1	-	HGNC	HGNC:16875	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:62675729-62675729	T	intron_variant,non_coding_transcript_variant	MODIFIER	MRC2	ENSG00000011028	Transcript	ENST00000584265.1	retained_intron	-	9/10	ENST00000584265.1:n.1688-61G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:16875	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:62675729-62675729	T	upstream_gene_variant	MODIFIER	MRC2	ENSG00000011028	Transcript	ENST00000584682.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	665	1	cds_start_NF	HGNC	HGNC:16875	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:62675729-62675729	T	downstream_gene_variant	MODIFIER	-	ENSG00000279713	Transcript	ENST00000623346.1	TEC	-	-	-	-	-	-	-	-	-	-	G	G/T	3674	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000290863.10	protein_coding	-	11/13	ENST00000290863.10:c.1658+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	1	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000290866.10	protein_coding	-	22/24	ENST00000290866.10:c.3380+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	YES	MANE_Select	NM_000789.4	-	1	P2	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000413513.7	protein_coding	-	11/12	ENST00000413513.7:c.1658+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	2	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000428043.5	protein_coding	-	22/23	ENST00000428043.5:c.3380+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	2	A2	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant,non_coding_transcript_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000577418.5	protein_coding_CDS_not_defined	-	3/5	ENST00000577418.5:n.390+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	5	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	downstream_gene_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000578679.1	retained_intron	-	-	-	-	-	-	-	-	-	rs910245918	G	G/A	75	1	-	HGNC	HGNC:2707	-	-	-	-	2	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant,NMD_transcript_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000578839.5	nonsense_mediated_decay	-	10/11	ENST00000578839.5:c.*1258+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	2	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant,NMD_transcript_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000579314.5	nonsense_mediated_decay	-	11/13	ENST00000579314.5:c.*1109+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	2	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	upstream_gene_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000582244.1	retained_intron	-	-	-	-	-	-	-	-	-	rs910245918	G	G/A	1598	1	-	HGNC	HGNC:2707	-	-	-	-	2	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	downstream_gene_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000582761.1	protein_coding	-	-	-	-	-	-	-	-	-	rs910245918	G	G/A	137	1	cds_start_NF,cds_end_NF	HGNC	HGNC:2707	-	-	-	-	3	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	downstream_gene_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000583645.1	retained_intron	-	-	-	-	-	-	-	-	-	rs910245918	G	G/A	1096	1	-	HGNC	HGNC:2707	-	-	-	-	3	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	downstream_gene_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000584865.5	retained_intron	-	-	-	-	-	-	-	-	-	rs910245918	G	G/A	885	1	-	HGNC	HGNC:2707	-	-	-	-	2	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000884274.1	protein_coding	-	22/23	ENST00000884274.1:c.3380+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	-	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000884275.1	protein_coding	-	21/23	ENST00000884275.1:c.3188+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	-	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000884276.1	protein_coding	-	20/22	ENST00000884276.1:c.3089+476G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	-	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000884277.1	protein_coding	-	20/22	ENST00000884277.1:c.3011+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	-	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000884278.1	protein_coding	-	21/23	ENST00000884278.1:c.3257+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	-	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000884279.1	protein_coding	-	22/24	ENST00000884279.1:c.3398+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	-	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000884280.1	protein_coding	-	21/23	ENST00000884280.1:c.3281+476G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	-	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000884281.1	protein_coding	-	22/24	ENST00000884281.1:c.3380+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	-	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63494542-63494542	A	intron_variant	MODIFIER	ACE	ENSG00000159640	Transcript	ENST00000953328.1	protein_coding	-	22/24	ENST00000953328.1:c.3404+72G>A	-	-	-	-	-	-	rs910245918	G	G/A	-	1	-	HGNC	HGNC:2707	-	-	-	-	-	-	-	-	-	-	4.112e-06	7.074e-05	0	0	0	0	0	1.11e-06	3.857e-05	0	1.971e-05	7.236e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000225726.10	protein_coding	-	9/12	ENST00000225726.10:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	YES	MANE_Select	NM_020198.3	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000403162.7	protein_coding	-	10/13	ENST00000403162.7:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	2	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000582252.1	protein_coding	-	9/11	ENST00000582252.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant,non_coding_transcript_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000582331.2	retained_intron	-	5/5	ENST00000582331.2:n.673+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000878791.1	protein_coding	-	10/13	ENST00000878791.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000878792.1	protein_coding	-	8/11	ENST00000878792.1:c.926+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000878793.1	protein_coding	-	9/12	ENST00000878793.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000878794.1	protein_coding	-	9/12	ENST00000878794.1:c.1049+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000878795.1	protein_coding	-	7/10	ENST00000878795.1:c.821+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000878796.1	protein_coding	-	9/12	ENST00000878796.1:c.1031+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000878797.1	protein_coding	-	10/13	ENST00000878797.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000878798.1	protein_coding	-	9/12	ENST00000878798.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000878799.1	protein_coding	-	10/13	ENST00000878799.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000878800.1	protein_coding	-	9/12	ENST00000878800.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000878801.1	protein_coding	-	9/12	ENST00000878801.1:c.1025+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000916946.1	protein_coding	-	11/14	ENST00000916946.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000916947.1	protein_coding	-	4/7	ENST00000916947.1:c.350+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000916948.1	protein_coding	-	2/2	ENST00000916948.1:c.265-7400C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000916949.1	protein_coding	-	9/12	ENST00000916949.1:c.1028+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000960669.1	protein_coding	-	9/12	ENST00000960669.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000960670.1	protein_coding	-	9/12	ENST00000960670.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000960671.1	protein_coding	-	5/8	ENST00000960671.1:c.563+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000960672.1	protein_coding	-	10/13	ENST00000960672.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000960673.1	protein_coding	-	8/11	ENST00000960673.1:c.932+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000960674.1	protein_coding	-	9/12	ENST00000960674.1:c.932+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000960675.1	protein_coding	-	9/12	ENST00000960675.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000960676.1	protein_coding	-	9/11	ENST00000960676.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000960677.1	protein_coding	-	9/12	ENST00000960677.1:c.1049+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	T	intron_variant	MODIFIER	CCDC47	ENSG00000108588	Transcript	ENST00000960678.1	protein_coding	-	9/12	ENST00000960678.1:c.1034+72C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:24856	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:64585935-64585935	T	intron_variant	MODIFIER	SMURF2	ENSG00000108854	Transcript	ENST00000262435.14	protein_coding	-	6/18	ENST00000262435.14:c.485+151T>A	-	-	-	-	-	-	-	A	A/T	-	-1	-	HGNC	HGNC:16809	YES	MANE_Select	NM_022739.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:64585935-64585935	T	intron_variant,non_coding_transcript_variant	MODIFIER	SMURF2	ENSG00000108854	Transcript	ENST00000578200.1	protein_coding_CDS_not_defined	-	1/2	ENST00000578200.1:n.117-24332T>A	-	-	-	-	-	-	-	A	A/T	-	-1	-	HGNC	HGNC:16809	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:64585935-64585935	T	intron_variant,NMD_transcript_variant	MODIFIER	SMURF2	ENSG00000108854	Transcript	ENST00000578386.5	nonsense_mediated_decay	-	6/18	ENST00000578386.5:c.*308-2391T>A	-	-	-	-	-	-	-	A	A/T	-	-1	-	HGNC	HGNC:16809	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:64585935-64585935	T	intron_variant,NMD_transcript_variant	MODIFIER	SMURF2	ENSG00000108854	Transcript	ENST00000582081.5	nonsense_mediated_decay	-	6/18	ENST00000582081.5:c.*392+151T>A	-	-	-	-	-	-	-	A	A/T	-	-1	-	HGNC	HGNC:16809	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:64585935-64585935	T	intron_variant	MODIFIER	SMURF2	ENSG00000108854	Transcript	ENST00000585301.1	protein_coding	-	5/13	ENST00000585301.1:c.446+151T>A	-	-	-	-	-	-	-	A	A/T	-	-1	cds_end_NF	HGNC	HGNC:16809	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:64585935-64585935	T	intron_variant	MODIFIER	SMURF2	ENSG00000108854	Transcript	ENST00000935092.1	protein_coding	-	6/18	ENST00000935092.1:c.485+151T>A	-	-	-	-	-	-	-	A	A/T	-	-1	-	HGNC	HGNC:16809	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:64585935-64585935	T	intron_variant	MODIFIER	SMURF2	ENSG00000108854	Transcript	ENST00000935093.1	protein_coding	-	6/18	ENST00000935093.1:c.419+151T>A	-	-	-	-	-	-	-	A	A/T	-	-1	-	HGNC	HGNC:16809	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:65056289-65056289	T	intron_variant	MODIFIER	GNA13	ENSG00000120063	Transcript	ENST00000439174.7	protein_coding	-	1/3	ENST00000439174.7:c.283+22C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4381	YES	MANE_Select	NM_006572.6	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:65056289-65056289	T	upstream_gene_variant	MODIFIER	GNA13	ENSG00000120063	Transcript	ENST00000541118.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	515	-1	-	HGNC	HGNC:4381	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:65056289-65056289	T	downstream_gene_variant	MODIFIER	-	ENSG00000266598	Transcript	ENST00000581796.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	2981	1	-	-	-	YES	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:65056289-65056289	T	intron_variant	MODIFIER	GNA13	ENSG00000120063	Transcript	ENST00000866834.1	protein_coding	-	1/3	ENST00000866834.1:c.283+22C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4381	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:65056289-65056289	T	intron_variant	MODIFIER	GNA13	ENSG00000120063	Transcript	ENST00000866835.1	protein_coding	-	1/2	ENST00000866835.1:c.283+22C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4381	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:65056289-65056289	T	intron_variant	MODIFIER	GNA13	ENSG00000120063	Transcript	ENST00000866836.1	protein_coding	-	1/1	ENST00000866836.1:c.283+22C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4381	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:65056289-65056289	T	intron_variant	MODIFIER	GNA13	ENSG00000120063	Transcript	ENST00000929019.1	protein_coding	-	1/1	ENST00000929019.1:c.283+22C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:4381	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:66884824-66884824	A	intron_variant	MODIFIER	CACNG5	ENSG00000075429	Transcript	ENST00000307139.4	protein_coding	-	4/4	ENST00000307139.4:c.571-159C>A	-	-	-	-	-	-	rs758556869	C	C/A	-	1	-	HGNC	HGNC:1409	-	-	-	-	1	P1	-	-	-	-	5.133e-05	0	0	0.002143	0	0	0	8.993e-06	0.0001325	1.17e-05	6.573e-05	0	0	0	0.002592	0	0	0	1.47e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:66884824-66884824	A	intron_variant	MODIFIER	CACNG5	ENSG00000075429	Transcript	ENST00000533854.6	protein_coding	-	5/5	ENST00000533854.6:c.571-159C>A	-	-	-	-	-	-	rs758556869	C	C/A	-	1	-	HGNC	HGNC:1409	YES	MANE_Select	NM_145811.3	-	2	P1	-	-	-	-	5.133e-05	0	0	0.002143	0	0	0	8.993e-06	0.0001325	1.17e-05	6.573e-05	0	0	0	0.002592	0	0	0	1.47e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:66884824-66884824	A	intron_variant	MODIFIER	CACNG5	ENSG00000075429	Transcript	ENST00000673855.1	protein_coding	-	3/3	ENST00000673855.1:c.424+4127C>A	-	-	-	-	-	-	rs758556869	C	C/A	-	1	-	HGNC	HGNC:1409	-	-	-	-	-	-	-	-	-	-	5.133e-05	0	0	0.002143	0	0	0	8.993e-06	0.0001325	1.17e-05	6.573e-05	0	0	0	0.002592	0	0	0	1.47e-05	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000253247.9	protein_coding	-	1/17	ENST00000253247.9:c.141+179G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	YES	MANE_Select	NM_015462.5	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000580833.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	3183	1	cds_start_NF,cds_end_NF	HGNC	HGNC:24557	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000581106.5	protein_coding	-	1/5	ENST00000581106.5:c.141+179G>C	-	-	-	-	-	-	-	G	G/C	-	1	cds_end_NF	HGNC	HGNC:24557	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant,NMD_transcript_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000581375.5	nonsense_mediated_decay	-	1/16	ENST00000581375.5:c.141+179G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant,non_coding_transcript_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000581966.5	protein_coding_CDS_not_defined	-	1/4	ENST00000581966.5:n.144+179G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000584942.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	1119	1	-	HGNC	HGNC:24557	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832617.1	lncRNA	-	1/2	ENST00000832617.1:n.198-28894C>G	-	-	-	-	-	-	-	G	G/C	-	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832618.1	lncRNA	-	1/2	ENST00000832618.1:n.212-28894C>G	-	-	-	-	-	-	-	G	G/C	-	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832619.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	508	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832620.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	465	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832621.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	508	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832622.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	377	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832623.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	469	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832624.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	501	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832625.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	508	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832626.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	511	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832627.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	511	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832628.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	525	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832629.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	379	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832630.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	421	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832631.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	508	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832632.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	508	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832633.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	520	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832634.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	578	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832635.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	579	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832636.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	508	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832637.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	508	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832638.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	541	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832639.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	549	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	upstream_gene_variant	MODIFIER	-	ENSG00000288109	Transcript	ENST00000832642.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	541	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000898239.1	protein_coding	-	1/16	ENST00000898239.1:c.141+179G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000898240.1	protein_coding	-	1/17	ENST00000898240.1:c.141+179G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000898241.1	protein_coding	-	1/15	ENST00000898241.1:c.141+179G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000898242.1	protein_coding	-	1/17	ENST00000898242.1:c.141+179G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000918418.1	protein_coding	-	1/17	ENST00000918418.1:c.141+179G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000918419.1	protein_coding	-	1/16	ENST00000918419.1:c.141+179G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000918420.1	protein_coding	-	1/17	ENST00000918420.1:c.141+179G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000918421.1	protein_coding	-	1/17	ENST00000918421.1:c.291+29G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000918422.1	protein_coding	-	1/16	ENST00000918422.1:c.141+179G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	C	intron_variant	MODIFIER	NOL11	ENSG00000130935	Transcript	ENST00000955840.1	protein_coding	-	1/17	ENST00000955840.1:c.36+284G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:24557	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67919766-67919766	T	intron_variant	MODIFIER	BPTF	ENSG00000171634	Transcript	ENST00000306378.11	protein_coding	-	12/27	ENST00000306378.11:c.5429-249G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3581	YES	MANE_Select	NM_182641.4	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67919766-67919766	T	intron_variant	MODIFIER	BPTF	ENSG00000171634	Transcript	ENST00000321892.8	protein_coding	-	14/29	ENST00000321892.8:c.5807-249G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3581	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67919766-67919766	T	intron_variant	MODIFIER	BPTF	ENSG00000171634	Transcript	ENST00000342579.8	protein_coding	-	14/30	ENST00000342579.8:c.5499-249G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:3581	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67919766-67919766	T	intron_variant	MODIFIER	BPTF	ENSG00000171634	Transcript	ENST00000424123.7	protein_coding	-	14/29	ENST00000424123.7:c.5390-249G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:3581	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67919766-67919766	T	intron_variant	MODIFIER	BPTF	ENSG00000171634	Transcript	ENST00000544778.6	protein_coding	-	13/21	ENST00000544778.6:c.5618-249G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:3581	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67919766-67919766	T	intron_variant	MODIFIER	BPTF	ENSG00000171634	Transcript	ENST00000582467.2	protein_coding	-	14/31	ENST00000582467.2:c.5807-249G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:3581	-	-	-	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:67919766-67919766	T	intron_variant	MODIFIER	BPTF	ENSG00000171634	Transcript	ENST00000644067.1	protein_coding	-	14/30	ENST00000644067.1:c.5499-249G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:3581	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68144890-68144891	-	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000290646	Transcript	ENST00000585915.1	lncRNA	-	1/2	ENST00000585915.1:n.72+2561del	-	-	-	-	-	-	rs370970351	C	AC/A	-	-1	-	-	-	YES	-	-	-	5	-	-	-	-	-	0.01269	0.02278	0.003952	0.00458	0.04633	0.0116	0.01838	0.01268	0.01391	0.009298	0.009294	0.03229	0	0.002641	0.000579	0	0.0007849	0	0.0003549	0.006829	0.002083	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68144890-68144891	-	intron_variant,non_coding_transcript_variant	MODIFIER	LRRC37A16P	ENSG00000267023	Transcript	ENST00000586022.5	transcribed_unprocessed_pseudogene	-	6/14	ENST00000586022.5:n.1628-19del	-	-	-	-	-	-	rs370970351	C	AC/A	-	-1	-	HGNC	HGNC:43820	YES	-	-	-	-	-	-	-	-	-	0.01269	0.02278	0.003952	0.00458	0.04633	0.0116	0.01838	0.01268	0.01391	0.009298	0.009294	0.03229	0	0.002641	0.000579	0	0.0007849	0	0.0003549	0.006829	0.002083	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68144890-68144891	-	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000290646	Transcript	ENST00000590019.1	lncRNA	-	1/4	ENST00000590019.1:n.71-19del	-	-	-	-	-	-	rs370970351	C	AC/A	-	-1	-	-	-	-	-	-	-	5	-	-	-	-	-	0.01269	0.02278	0.003952	0.00458	0.04633	0.0116	0.01838	0.01268	0.01391	0.009298	0.009294	0.03229	0	0.002641	0.000579	0	0.0007849	0	0.0003549	0.006829	0.002083	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68144890-68144891	-	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000291214	Transcript	ENST00000690974.1	lncRNA	-	3/3	ENST00000690974.1:n.307-16099del	-	-	-	-	-	-	rs370970351	C	AC/A	-	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	0.01269	0.02278	0.003952	0.00458	0.04633	0.0116	0.01838	0.01268	0.01391	0.009298	0.009294	0.03229	0	0.002641	0.000579	0	0.0007849	0	0.0003549	0.006829	0.002083	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68144890-68144891	-	upstream_gene_variant	MODIFIER	-	ENSG00000290646	Transcript	ENST00000722197.1	lncRNA	-	-	-	-	-	-	-	-	-	rs370970351	C	AC/A	3242	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	0.01269	0.02278	0.003952	0.00458	0.04633	0.0116	0.01838	0.01268	0.01391	0.009298	0.009294	0.03229	0	0.002641	0.000579	0	0.0007849	0	0.0003549	0.006829	0.002083	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68144890-68144891	-	downstream_gene_variant	MODIFIER	-	ENSG00000294268	Transcript	ENST00000722323.1	lncRNA	-	-	-	-	-	-	-	-	-	rs370970351	C	AC/A	4399	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	0.01269	0.02278	0.003952	0.00458	0.04633	0.0116	0.01838	0.01268	0.01391	0.009298	0.009294	0.03229	0	0.002641	0.000579	0	0.0007849	0	0.0003549	0.006829	0.002083	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000358598.6	protein_coding	-	9/10	ENST00000358598.6:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant,NMD_transcript_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000392710.8	nonsense_mediated_decay	-	9/10	ENST00000392710.8:c.*506+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000392711.5	protein_coding	-	9/10	ENST00000392711.5:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000536854.6	protein_coding	-	10/11	ENST00000536854.6:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000585427.6	protein_coding	-	9/10	ENST00000585427.6:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	4	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	downstream_gene_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000585460.1	retained_intron	-	-	-	-	-	-	-	-	-	-	A	A/G	4952	1	-	HGNC	HGNC:9388	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	downstream_gene_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000585608.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	A	A/G	3170	1	-	HGNC	HGNC:9388	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant,non_coding_transcript_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000585907.1	retained_intron	-	2/3	ENST00000585907.1:n.439+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000585981.6	protein_coding	-	10/11	ENST00000585981.6:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000586397.5	protein_coding	-	8/9	ENST00000586397.5:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant,NMD_transcript_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000586541.5	nonsense_mediated_decay	-	4/5	ENST00000586541.5:c.*197+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	cds_start_NF	HGNC	HGNC:9388	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000588178.6	protein_coding	-	9/10	ENST00000588178.6:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	4	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000588188.7	protein_coding	-	9/10	ENST00000588188.7:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000589017.6	protein_coding	-	10/11	ENST00000589017.6:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	3	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000589228.6	protein_coding	-	9/10	ENST00000589228.6:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	YES	MANE_Select	NM_002734.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000589480.6	protein_coding	-	10/11	ENST00000589480.6:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	2	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	downstream_gene_variant	MODIFIER	-	ENSG00000267009	Transcript	ENST00000590353.1	lncRNA	-	-	-	-	-	-	-	-	-	-	A	A/G	4133	1	-	-	-	YES	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000592800.6	protein_coding	-	9/9	ENST00000592800.6:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	non_coding_transcript_exon_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000686019.1	retained_intron	9/10	-	ENST00000686019.1:n.1101A>G	-	1101	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant,non_coding_transcript_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000689501.1	retained_intron	-	4/5	ENST00000689501.1:n.3083+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant,non_coding_transcript_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000691392.1	retained_intron	-	8/9	ENST00000691392.1:n.1858+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	G	intron_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000711037.1	protein_coding	-	9/10	ENST00000711037.1:c.891+91A>G	-	-	-	-	-	-	-	A	A/G	-	1	-	HGNC	HGNC:9388	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	intron_variant,non_coding_transcript_variant	MODIFIER	FAM20A	ENSG00000108950	Transcript	ENST00000226094.9	protein_coding_CDS_not_defined	-	2/10	ENST00000226094.9:n.247-24C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23015	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	downstream_gene_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000585981.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3533	1	-	HGNC	HGNC:9388	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	downstream_gene_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000588188.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3532	1	-	HGNC	HGNC:9388	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	upstream_gene_variant	MODIFIER	-	ENSG00000267461	Transcript	ENST00000589826.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	2665	1	-	-	-	YES	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	intron_variant,NMD_transcript_variant	MODIFIER	FAM20A	ENSG00000108950	Transcript	ENST00000590074.5	nonsense_mediated_decay	-	3/11	ENST00000590074.5:c.*363-24C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_start_NF	HGNC	HGNC:23015	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	intron_variant	MODIFIER	FAM20A	ENSG00000108950	Transcript	ENST00000592554.2	protein_coding	-	2/10	ENST00000592554.2:c.590-24C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23015	YES	MANE_Select	NM_017565.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	intron_variant,non_coding_transcript_variant	MODIFIER	FAM20A	ENSG00000108950	Transcript	ENST00000592847.1	protein_coding_CDS_not_defined	-	2/7	ENST00000592847.1:n.232-24C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23015	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	downstream_gene_variant	MODIFIER	PRKAR1A	ENSG00000108946	Transcript	ENST00000711037.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3532	1	-	HGNC	HGNC:9388	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	intron_variant	MODIFIER	FAM20A	ENSG00000108950	Transcript	ENST00000882123.1	protein_coding	-	2/9	ENST00000882123.1:c.589+708C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23015	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	intron_variant	MODIFIER	FAM20A	ENSG00000108950	Transcript	ENST00000882124.1	protein_coding	-	2/9	ENST00000882124.1:c.590-24C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23015	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	intron_variant	MODIFIER	FAM20A	ENSG00000108950	Transcript	ENST00000882125.1	protein_coding	-	2/8	ENST00000882125.1:c.590-24C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23015	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	intron_variant	MODIFIER	FAM20A	ENSG00000108950	Transcript	ENST00000882126.1	protein_coding	-	2/11	ENST00000882126.1:c.590-24C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23015	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	intron_variant	MODIFIER	FAM20A	ENSG00000108950	Transcript	ENST00000913497.1	protein_coding	-	2/8	ENST00000913497.1:c.590-24C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23015	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:68554851-68554851	T	intron_variant	MODIFIER	FAM20A	ENSG00000108950	Transcript	ENST00000958307.1	protein_coding	-	2/6	ENST00000958307.1:c.590-24C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23015	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	intron_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000299886.9	protein_coding	-	11/13	ENST00000299886.9:c.2619+219T>C	-	-	-	-	-	-	rs2061373011	T	T/C	-	1	-	HGNC	HGNC:6545	YES	MANE_Select	NM_018714.3	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	downstream_gene_variant	MODIFIER	VCF1	ENSG00000133193	Transcript	ENST00000403627.7	protein_coding	-	-	-	-	-	-	-	-	-	rs2061373011	T	T/C	872	-1	-	HGNC	HGNC:25918	-	-	-	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	downstream_gene_variant	MODIFIER	VCF1	ENSG00000133193	Transcript	ENST00000405159.8	protein_coding	-	-	-	-	-	-	-	-	-	rs2061373011	T	T/C	884	-1	-	HGNC	HGNC:25918	YES	MANE_Select	NM_001098832.2	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	intron_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000438720.7	protein_coding	-	11/12	ENST00000438720.7:c.2617+219T>C	-	-	-	-	-	-	rs2061373011	T	T/C	-	1	cds_start_NF	HGNC	HGNC:6545	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	intron_variant,non_coding_transcript_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000577238.1	retained_intron	-	1/1	ENST00000577238.1:n.325+219T>C	-	-	-	-	-	-	rs2061373011	T	T/C	-	1	-	HGNC	HGNC:6545	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	downstream_gene_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000577844.1	retained_intron	-	-	-	-	-	-	-	-	-	rs2061373011	T	T/C	293	1	-	HGNC	HGNC:6545	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	downstream_gene_variant	MODIFIER	VCF1	ENSG00000133193	Transcript	ENST00000579872.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2061373011	T	T/C	3094	-1	cds_end_NF	HGNC	HGNC:25918	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	downstream_gene_variant	MODIFIER	VCF1	ENSG00000133193	Transcript	ENST00000580032.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs2061373011	T	T/C	3027	-1	-	HGNC	HGNC:25918	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	intron_variant,non_coding_transcript_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000580271.5	retained_intron	-	2/2	ENST00000580271.5:n.219+219T>C	-	-	-	-	-	-	rs2061373011	T	T/C	-	1	-	HGNC	HGNC:6545	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	downstream_gene_variant	MODIFIER	VCF1	ENSG00000133193	Transcript	ENST00000581110.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2061373011	T	T/C	3085	-1	-	HGNC	HGNC:25918	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	intron_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000582512.5	protein_coding	-	2/5	ENST00000582512.5:c.175+219T>C	-	-	-	-	-	-	rs2061373011	T	T/C	-	1	cds_start_NF	HGNC	HGNC:6545	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	intron_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000582672.1	protein_coding	-	1/3	ENST00000582672.1:c.104+219T>C	-	-	-	-	-	-	rs2061373011	T	T/C	-	1	cds_start_NF	HGNC	HGNC:6545	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	upstream_gene_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000582973.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	rs2061373011	T	T/C	260	1	cds_start_NF	HGNC	HGNC:6545	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	downstream_gene_variant	MODIFIER	VCF1	ENSG00000133193	Transcript	ENST00000583024.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2061373011	T	T/C	3124	-1	-	HGNC	HGNC:25918	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	downstream_gene_variant	MODIFIER	VCF1	ENSG00000133193	Transcript	ENST00000583178.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs2061373011	T	T/C	3007	-1	-	HGNC	HGNC:25918	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	upstream_gene_variant	MODIFIER	-	ENSG00000277728	Transcript	ENST00000613523.1	lncRNA	-	-	-	-	-	-	-	-	-	rs2061373011	T	T/C	3050	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	intron_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000876963.1	protein_coding	-	11/13	ENST00000876963.1:c.2595+219T>C	-	-	-	-	-	-	rs2061373011	T	T/C	-	1	-	HGNC	HGNC:6545	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	intron_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000876964.1	protein_coding	-	11/13	ENST00000876964.1:c.1908+219T>C	-	-	-	-	-	-	rs2061373011	T	T/C	-	1	-	HGNC	HGNC:6545	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	intron_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000876965.1	protein_coding	-	11/13	ENST00000876965.1:c.2481+219T>C	-	-	-	-	-	-	rs2061373011	T	T/C	-	1	-	HGNC	HGNC:6545	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	downstream_gene_variant	MODIFIER	VCF1	ENSG00000133193	Transcript	ENST00000923017.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2061373011	T	T/C	884	-1	-	HGNC	HGNC:25918	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	intron_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000923183.1	protein_coding	-	11/13	ENST00000923183.1:c.2613+219T>C	-	-	-	-	-	-	rs2061373011	T	T/C	-	1	-	HGNC	HGNC:6545	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	downstream_gene_variant	MODIFIER	VCF1	ENSG00000133193	Transcript	ENST00000947727.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2061373011	T	T/C	885	-1	-	HGNC	HGNC:25918	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	intron_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000947884.1	protein_coding	-	11/13	ENST00000947884.1:c.2247+219T>C	-	-	-	-	-	-	rs2061373011	T	T/C	-	1	-	HGNC	HGNC:6545	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:73206481-73206481	C	intron_variant	MODIFIER	COG1	ENSG00000166685	Transcript	ENST00000947885.1	protein_coding	-	10/12	ENST00000947885.1:c.2457+219T>C	-	-	-	-	-	-	rs2061373011	T	T/C	-	1	-	HGNC	HGNC:6545	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74299542-74299542	G	intron_variant	MODIFIER	DNAI2	ENSG00000171595	Transcript	ENST00000311014.11	protein_coding	-	6/13	ENST00000311014.11:c.725-176C>G	-	-	-	-	-	-	rs1598312613	C	C/G	-	1	-	HGNC	HGNC:18744	YES	MANE_Select	NM_023036.6	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74299542-74299542	G	intron_variant	MODIFIER	DNAI2	ENSG00000171595	Transcript	ENST00000446837.2	protein_coding	-	5/12	ENST00000446837.2:c.725-176C>G	-	-	-	-	-	-	rs1598312613	C	C/G	-	1	-	HGNC	HGNC:18744	-	-	-	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74299542-74299542	G	intron_variant,NMD_transcript_variant	MODIFIER	DNAI2	ENSG00000171595	Transcript	ENST00000579055.5	nonsense_mediated_decay	-	5/12	ENST00000579055.5:c.*96-176C>G	-	-	-	-	-	-	rs1598312613	C	C/G	-	1	-	HGNC	HGNC:18744	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74299542-74299542	G	intron_variant	MODIFIER	DNAI2	ENSG00000171595	Transcript	ENST00000579490.5	protein_coding	-	5/12	ENST00000579490.5:c.896-176C>G	-	-	-	-	-	-	rs1598312613	C	C/G	-	1	-	HGNC	HGNC:18744	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74299542-74299542	G	intron_variant	MODIFIER	DNAI2	ENSG00000171595	Transcript	ENST00000582036.5	protein_coding	-	6/13	ENST00000582036.5:c.725-176C>G	-	-	-	-	-	-	rs1598312613	C	C/G	-	1	-	HGNC	HGNC:18744	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74299542-74299542	G	intron_variant	MODIFIER	DNAI2	ENSG00000171595	Transcript	ENST00000856951.1	protein_coding	-	6/13	ENST00000856951.1:c.725-176C>G	-	-	-	-	-	-	rs1598312613	C	C/G	-	1	-	HGNC	HGNC:18744	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74299542-74299542	G	intron_variant	MODIFIER	DNAI2	ENSG00000171595	Transcript	ENST00000856952.1	protein_coding	-	6/12	ENST00000856952.1:c.725-176C>G	-	-	-	-	-	-	rs1598312613	C	C/G	-	1	-	HGNC	HGNC:18744	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74299542-74299542	G	intron_variant	MODIFIER	DNAI2	ENSG00000171595	Transcript	ENST00000856953.1	protein_coding	-	6/12	ENST00000856953.1:c.725-176C>G	-	-	-	-	-	-	rs1598312613	C	C/G	-	1	-	HGNC	HGNC:18744	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74299542-74299542	G	intron_variant	MODIFIER	DNAI2	ENSG00000171595	Transcript	ENST00000856954.1	protein_coding	-	6/12	ENST00000856954.1:c.725-176C>G	-	-	-	-	-	-	rs1598312613	C	C/G	-	1	-	HGNC	HGNC:18744	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74299542-74299542	G	intron_variant	MODIFIER	DNAI2	ENSG00000171595	Transcript	ENST00000856955.1	protein_coding	-	6/13	ENST00000856955.1:c.725-176C>G	-	-	-	-	-	-	rs1598312613	C	C/G	-	1	-	HGNC	HGNC:18744	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74299542-74299542	G	intron_variant	MODIFIER	DNAI2	ENSG00000171595	Transcript	ENST00000927504.1	protein_coding	-	5/12	ENST00000927504.1:c.611-176C>G	-	-	-	-	-	-	rs1598312613	C	C/G	-	1	-	HGNC	HGNC:18744	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74299542-74299542	G	intron_variant	MODIFIER	DNAI2	ENSG00000171595	Transcript	ENST00000962604.1	protein_coding	-	6/13	ENST00000962604.1:c.725-176C>G	-	-	-	-	-	-	rs1598312613	C	C/G	-	1	-	HGNC	HGNC:18744	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	3_prime_UTR_variant	MODIFIER	CD300LF	ENSG00000186074	Transcript	ENST00000301573.13	protein_coding	8/8	-	ENST00000301573.13:c.*86C>A	-	909	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29883	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	missense_variant	MODERATE	CD300LF	ENSG00000186074	Transcript	ENST00000326165.11	protein_coding	7/7	-	ENST00000326165.11:c.775C>A	ENSP00000327075.6:p.Gln259Lys	832	775	259	Q/K	Cag/Aag	-	G	G/T	-	-1	-	HGNC	HGNC:29883	YES	MANE_Select	NM_139018.5	-	1	-	-	deleterious(0)	possibly_damaging(0.796)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0774	-	-	-	-
.	17:74695194-74695194	T	intron_variant	MODIFIER	RAB37	ENSG00000172794	Transcript	ENST00000340415.7	protein_coding	-	1/7	ENST00000340415.7:c.72+23536G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:30268	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	intron_variant,non_coding_transcript_variant	MODIFIER	RAB37	ENSG00000172794	Transcript	ENST00000392617.7	retained_intron	-	1/5	ENST00000392617.7:n.479+23536G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:30268	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	intron_variant	MODIFIER	RAB37	ENSG00000172794	Transcript	ENST00000402449.8	protein_coding	-	1/8	ENST00000402449.8:c.72+23536G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:30268	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	CD300LF	ENSG00000186074	Transcript	ENST00000462044.5	nonsense_mediated_decay	5/5	-	ENST00000462044.5:c.*150C>A	-	703	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29883	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	missense_variant	MODERATE	CD300LF	ENSG00000186074	Transcript	ENST00000464910.5	protein_coding	7/7	-	ENST00000464910.5:c.784C>A	ENSP00000464257.1:p.Gln262Lys	839	784	262	Q/K	Cag/Aag	-	G	G/T	-	-1	-	HGNC	HGNC:29883	-	-	-	-	1	A2	-	deleterious(0)	possibly_damaging(0.728)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	3_prime_UTR_variant	MODIFIER	CD300LF	ENSG00000186074	Transcript	ENST00000469092.5	protein_coding	7/7	-	ENST00000469092.5:c.*86C>A	-	948	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29883	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	downstream_gene_variant	MODIFIER	CD300LF	ENSG00000186074	Transcript	ENST00000581500.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	559	-1	-	HGNC	HGNC:29883	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	missense_variant	MODERATE	CD300LF	ENSG00000186074	Transcript	ENST00000583937.5	protein_coding	7/7	-	ENST00000583937.5:c.820C>A	ENSP00000462309.1:p.Gln274Lys	895	820	274	Q/K	Cag/Aag	-	G	G/T	-	-1	-	HGNC	HGNC:29883	-	-	-	-	2	P2	-	deleterious(0.01)	possibly_damaging(0.708)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	missense_variant	MODERATE	CD300LF	ENSG00000186074	Transcript	ENST00000886268.1	protein_coding	7/7	-	ENST00000886268.1:c.829C>A	ENSP00000556327.1:p.Gln277Lys	920	829	277	Q/K	Cag/Aag	-	G	G/T	-	-1	-	HGNC	HGNC:29883	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	missense_variant	MODERATE	CD300LF	ENSG00000186074	Transcript	ENST00000963430.1	protein_coding	7/7	-	ENST00000963430.1:c.817C>A	ENSP00000633489.1:p.Gln273Lys	932	817	273	Q/K	Cag/Aag	-	G	G/T	-	-1	-	HGNC	HGNC:29883	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	missense_variant	MODERATE	CD300LF	ENSG00000186074	Transcript	ENST00000963431.1	protein_coding	7/7	-	ENST00000963431.1:c.772C>A	ENSP00000633490.1:p.Gln258Lys	863	772	258	Q/K	Cag/Aag	-	G	G/T	-	-1	-	HGNC	HGNC:29883	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	missense_variant	MODERATE	CD300LF	ENSG00000186074	Transcript	ENST00000963432.1	protein_coding	7/7	-	ENST00000963432.1:c.832C>A	ENSP00000633491.1:p.Gln278Lys	896	832	278	Q/K	Cag/Aag	-	G	G/T	-	-1	-	HGNC	HGNC:29883	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74695194-74695194	T	missense_variant	MODERATE	CD300LF	ENSG00000186074	Transcript	ENST00000963433.1	protein_coding	8/8	-	ENST00000963433.1:c.844C>A	ENSP00000633492.1:p.Gln282Lys	901	844	282	Q/K	Cag/Aag	-	G	G/T	-	-1	-	HGNC	HGNC:29883	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NHERF1	ENSG00000109062	Transcript	ENST00000262613.10	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	2353	1	-	HGNC	HGNC:11075	YES	MANE_Select	NM_004252.5	-	1	P3	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	upstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000335464.10	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	4793	1	-	HGNC	HGNC:25984	YES	MANE_Select	NM_017728.4	-	1	P4	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000357814.8	protein_coding	7/7	-	ENST00000357814.8:c.*18C>T	-	730	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	YES	MANE_Select	NM_015654.5	-	1	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NHERF1	ENSG00000109062	Transcript	ENST00000413388.2	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	2410	1	-	HGNC	HGNC:11075	-	-	-	-	2	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	upstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000417024.6	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	4793	1	-	HGNC	HGNC:25984	-	-	-	-	2	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000577428.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	569	-1	-	HGNC	HGNC:23133	-	-	-	-	4	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	upstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000578764.5	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	4794	1	cds_end_NF	HGNC	HGNC:25984	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000578798.5	retained_intron	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	325	-1	-	HGNC	HGNC:23133	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000578822.5	protein_coding	7/7	-	ENST00000578822.5:c.*18C>T	-	828	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000578862.5	retained_intron	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	469	-1	-	HGNC	HGNC:23133	-	-	-	-	4	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000578947.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	1197	-1	cds_end_NF	HGNC	HGNC:23133	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NHERF1	ENSG00000109062	Transcript	ENST00000578958.1	retained_intron	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	3147	1	-	HGNC	HGNC:11075	-	-	-	-	2	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000579218.5	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	88	-1	cds_end_NF	HGNC	HGNC:23133	-	-	-	-	5	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000579837.1	retained_intron	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	3654	-1	-	HGNC	HGNC:23133	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000580216.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	532	-1	-	HGNC	HGNC:23133	-	-	-	-	5	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000580301.5	protein_coding	7/7	-	ENST00000580301.5:c.*18C>T	-	721	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	1	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000580632.5	protein_coding	5/5	-	ENST00000580632.5:c.*18C>T	-	651	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000581136.5	protein_coding	7/7	-	ENST00000581136.5:c.*18C>T	-	694	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	2	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NHERF1	ENSG00000109062	Transcript	ENST00000581356.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	2903	1	cds_start_NF	HGNC	HGNC:11075	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000581451.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	1903	-1	cds_end_NF	HGNC	HGNC:23133	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000581466.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	566	-1	cds_end_NF	HGNC	HGNC:23133	-	-	-	-	5	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	non_coding_transcript_exon_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000581762.1	retained_intron	2/2	-	ENST00000581762.1:n.663C>T	-	663	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	2	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000582118.1	retained_intron	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	1648	-1	-	HGNC	HGNC:23133	-	-	-	-	4	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000582168.5	retained_intron	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	1288	-1	-	HGNC	HGNC:23133	-	-	-	-	2	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	upstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000582330.2	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	4814	1	-	HGNC	HGNC:25984	-	-	-	-	2	P4	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000582359.5	retained_intron	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	967	-1	-	HGNC	HGNC:23133	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000582524.5	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	58	-1	-	HGNC	HGNC:23133	-	-	-	-	4	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	upstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000582773.5	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	4794	1	-	HGNC	HGNC:25984	-	-	-	-	2	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000582870.5	protein_coding	7/7	-	ENST00000582870.5:c.*18C>T	-	850	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	5	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000582993.5	retained_intron	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	1605	-1	-	HGNC	HGNC:23133	-	-	-	-	2	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NHERF1	ENSG00000109062	Transcript	ENST00000583369.5	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	3124	1	cds_end_NF	HGNC	HGNC:11075	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000583476.5	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	62	-1	-	HGNC	HGNC:23133	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000583689.5	retained_intron	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	1071	-1	-	HGNC	HGNC:23133	-	-	-	-	2	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000583757.5	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	22	-1	-	HGNC	HGNC:23133	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	non_coding_transcript_exon_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000583834.5	retained_intron	6/6	-	ENST00000583834.5:n.868C>T	-	868	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000583989.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	560	-1	-	HGNC	HGNC:23133	-	-	-	-	4	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000584022.5	nonsense_mediated_decay	7/7	-	ENST00000584022.5:c.*543C>T	-	1088	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	2	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	upstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000584246.1	retained_intron	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	4803	1	-	HGNC	HGNC:25984	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000584409.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	589	-1	-	HGNC	HGNC:23133	-	-	-	-	3	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000585240.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	736	-1	-	HGNC	HGNC:23133	-	-	-	-	4	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NHERF1	ENSG00000109062	Transcript	ENST00000851800.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	2346	1	-	HGNC	HGNC:11075	-	-	-	-	-	A1	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NHERF1	ENSG00000109062	Transcript	ENST00000851801.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	2347	1	-	HGNC	HGNC:11075	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NHERF1	ENSG00000109062	Transcript	ENST00000851802.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	2350	1	-	HGNC	HGNC:11075	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NHERF1	ENSG00000109062	Transcript	ENST00000851803.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	2353	1	-	HGNC	HGNC:11075	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NHERF1	ENSG00000109062	Transcript	ENST00000851804.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	2356	1	-	HGNC	HGNC:11075	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	upstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000872109.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	4793	1	-	HGNC	HGNC:25984	-	-	-	-	-	A1	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	upstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000872110.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	4800	1	-	HGNC	HGNC:25984	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000906714.1	protein_coding	7/7	-	ENST00000906714.1:c.*18C>T	-	762	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000906715.1	protein_coding	7/7	-	ENST00000906715.1:c.*18C>T	-	751	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000906716.1	protein_coding	7/7	-	ENST00000906716.1:c.*18C>T	-	748	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000906717.1	protein_coding	7/7	-	ENST00000906717.1:c.*18C>T	-	724	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000906718.1	protein_coding	7/7	-	ENST00000906718.1:c.*18C>T	-	726	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	P1	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000906719.1	protein_coding	7/7	-	ENST00000906719.1:c.*18C>T	-	757	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000906720.1	protein_coding	7/7	-	ENST00000906720.1:c.*18C>T	-	715	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	P1	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000906721.1	protein_coding	7/7	-	ENST00000906721.1:c.*18C>T	-	800	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000906722.1	protein_coding	6/6	-	ENST00000906722.1:c.*18C>T	-	1196	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	upstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000915163.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	4771	1	-	HGNC	HGNC:25984	-	-	-	-	-	A1	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	upstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000915164.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	4788	1	-	HGNC	HGNC:25984	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	upstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000915165.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	4804	1	-	HGNC	HGNC:25984	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933013.1	protein_coding	7/7	-	ENST00000933013.1:c.*18C>T	-	790	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933014.1	protein_coding	7/7	-	ENST00000933014.1:c.*18C>T	-	857	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933015.1	protein_coding	7/7	-	ENST00000933015.1:c.*18C>T	-	704	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933016.1	protein_coding	7/7	-	ENST00000933016.1:c.*18C>T	-	713	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933017.1	protein_coding	7/7	-	ENST00000933017.1:c.*18C>T	-	703	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933018.1	protein_coding	6/6	-	ENST00000933018.1:c.*18C>T	-	659	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933019.1	protein_coding	7/7	-	ENST00000933019.1:c.*18C>T	-	679	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933020.1	protein_coding	6/6	-	ENST00000933020.1:c.*18C>T	-	569	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933021.1	protein_coding	6/6	-	ENST00000933021.1:c.*18C>T	-	568	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933022.1	protein_coding	7/7	-	ENST00000933022.1:c.*18C>T	-	797	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933023.1	protein_coding	7/7	-	ENST00000933023.1:c.*18C>T	-	865	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933024.1	protein_coding	6/6	-	ENST00000933024.1:c.*18C>T	-	1187	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	P1	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933025.1	protein_coding	7/7	-	ENST00000933025.1:c.*18C>T	-	690	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933026.1	protein_coding	7/7	-	ENST00000933026.1:c.*18C>T	-	815	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933027.1	protein_coding	7/7	-	ENST00000933027.1:c.*18C>T	-	687	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000933028.1	protein_coding	7/7	-	ENST00000933028.1:c.*18C>T	-	667	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000956106.1	protein_coding	7/7	-	ENST00000956106.1:c.*18C>T	-	685	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000956107.1	protein_coding	7/7	-	ENST00000956107.1:c.*18C>T	-	785	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000956108.1	protein_coding	7/7	-	ENST00000956108.1:c.*18C>T	-	856	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000956109.1	protein_coding	7/7	-	ENST00000956109.1:c.*18C>T	-	863	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000956110.1	protein_coding	7/7	-	ENST00000956110.1:c.*18C>T	-	755	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000956111.1	protein_coding	7/7	-	ENST00000956111.1:c.*18C>T	-	860	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000956112.1	protein_coding	7/7	-	ENST00000956112.1:c.*18C>T	-	797	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000956113.1	protein_coding	7/7	-	ENST00000956113.1:c.*18C>T	-	784	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000956114.1	protein_coding	7/7	-	ENST00000956114.1:c.*18C>T	-	658	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000956115.1	protein_coding	7/7	-	ENST00000956115.1:c.*18C>T	-	648	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000956116.1	protein_coding	7/7	-	ENST00000956116.1:c.*18C>T	-	666	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	3_prime_UTR_variant	MODIFIER	NAT9	ENSG00000109065	Transcript	ENST00000956117.1	protein_coding	6/6	-	ENST00000956117.1:c.*18C>T	-	1180	-	-	-	-	rs779259903	G	G/A	-	-1	-	HGNC	HGNC:23133	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NHERF1	ENSG00000109062	Transcript	ENST00000967136.1	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	2357	1	-	HGNC	HGNC:11075	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74771706-74771706	A	regulatory_region_variant	MODIFIER	-	-	RegulatoryFeature	ENSR17_D5P6D	enhancer	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	6.847e-07	0	0	0	0	0	0	8.993e-07	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74795641-74795641	T	intron_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000335464.10	protein_coding	-	8/9	ENST00000335464.10:c.636+9C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:25984	YES	MANE_Select	NM_017728.4	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74795641-74795641	T	intron_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000417024.6	protein_coding	-	8/9	ENST00000417024.6:c.675+9C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:25984	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74795641-74795641	T	downstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000578764.5	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/T	52	1	cds_end_NF	HGNC	HGNC:25984	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74795641-74795641	T	intron_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000582330.2	protein_coding	-	8/9	ENST00000582330.2:c.636+9C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:25984	-	-	-	-	2	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74795641-74795641	T	intron_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000582773.5	protein_coding	-	8/9	ENST00000582773.5:c.636+9C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:25984	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74795641-74795641	T	intron_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000872109.1	protein_coding	-	8/9	ENST00000872109.1:c.633+9C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:25984	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74795641-74795641	T	intron_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000872110.1	protein_coding	-	7/8	ENST00000872110.1:c.555+9C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:25984	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74795641-74795641	T	intron_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000915163.1	protein_coding	-	8/9	ENST00000915163.1:c.633+9C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:25984	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74795641-74795641	T	intron_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000915164.1	protein_coding	-	8/9	ENST00000915164.1:c.675+9C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:25984	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74795641-74795641	T	intron_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000915165.1	protein_coding	-	6/7	ENST00000915165.1:c.429+9C>T	-	-	-	-	-	-	-	C	C/T	-	1	-	HGNC	HGNC:25984	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	synonymous_variant	LOW	GRIN2C	ENSG00000161509	Transcript	ENST00000293190.10	protein_coding	12/13	-	ENST00000293190.10:c.2538G>A	ENSP00000293190.5:p.Ser846%3D	2695	2538	846	S	tcG/tcA	rs2037390873,COSV53111533	C	C/T	-	-1	-	HGNC	HGNC:4587	YES	MANE_Select	NM_000835.6	-	1	P4	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	downstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000335464.10	protein_coding	-	-	-	-	-	-	-	-	-	rs2037390873,COSV53111533	C	C/T	4568	1	-	HGNC	HGNC:25984	YES	MANE_Select	NM_017728.4	-	1	P4	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	synonymous_variant	LOW	GRIN2C	ENSG00000161509	Transcript	ENST00000347612.4	protein_coding	12/12	-	ENST00000347612.4:c.2538G>A	ENSP00000338645.4:p.Ser846%3D	2640	2538	846	S	tcG/tcA	rs2037390873,COSV53111533	C	C/T	-	-1	-	HGNC	HGNC:4587	-	-	-	-	1	-	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	downstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000417024.6	protein_coding	-	-	-	-	-	-	-	-	-	rs2037390873,COSV53111533	C	C/T	4569	1	-	HGNC	HGNC:25984	-	-	-	-	2	-	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	downstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000582330.2	protein_coding	-	-	-	-	-	-	-	-	-	rs2037390873,COSV53111533	C	C/T	4571	1	-	HGNC	HGNC:25984	-	-	-	-	2	P4	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	downstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000582773.5	protein_coding	-	-	-	-	-	-	-	-	-	rs2037390873,COSV53111533	C	C/T	4570	1	-	HGNC	HGNC:25984	-	-	-	-	2	-	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	non_coding_transcript_exon_variant	MODIFIER	GRIN2C	ENSG00000161509	Transcript	ENST00000584176.1	retained_intron	8/9	-	ENST00000584176.1:n.6281G>A	-	6281	-	-	-	-	rs2037390873,COSV53111533	C	C/T	-	-1	-	HGNC	HGNC:4587	-	-	-	-	2	-	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	downstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000872109.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2037390873,COSV53111533	C	C/T	4568	1	-	HGNC	HGNC:25984	-	-	-	-	-	A1	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	downstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000872110.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2037390873,COSV53111533	C	C/T	4572	1	-	HGNC	HGNC:25984	-	-	-	-	-	-	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	synonymous_variant	LOW	GRIN2C	ENSG00000161509	Transcript	ENST00000891066.1	protein_coding	12/13	-	ENST00000891066.1:c.2538G>A	ENSP00000561125.1:p.Ser846%3D	2652	2538	846	S	tcG/tcA	rs2037390873,COSV53111533	C	C/T	-	-1	-	HGNC	HGNC:4587	-	-	-	-	-	P4	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	downstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000915163.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2037390873,COSV53111533	C	C/T	4569	1	-	HGNC	HGNC:25984	-	-	-	-	-	A1	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	downstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000915164.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2037390873,COSV53111533	C	C/T	4573	1	-	HGNC	HGNC:25984	-	-	-	-	-	-	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	downstream_gene_variant	MODIFIER	TMEM104	ENSG00000109066	Transcript	ENST00000915165.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2037390873,COSV53111533	C	C/T	4572	1	-	HGNC	HGNC:25984	-	-	-	-	-	-	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	synonymous_variant	LOW	GRIN2C	ENSG00000161509	Transcript	ENST00000940917.1	protein_coding	12/13	-	ENST00000940917.1:c.2535G>A	ENSP00000610976.1:p.Ser845%3D	2890	2535	845	S	tcG/tcA	rs2037390873,COSV53111533	C	C/T	-	-1	-	HGNC	HGNC:4587	-	-	-	-	-	A2	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	synonymous_variant	LOW	GRIN2C	ENSG00000161509	Transcript	ENST00000940918.1	protein_coding	12/13	-	ENST00000940918.1:c.2562G>A	ENSP00000610977.1:p.Ser854%3D	2914	2562	854	S	tcG/tcA	rs2037390873,COSV53111533	C	C/T	-	-1	-	HGNC	HGNC:4587	-	-	-	-	-	A2	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	synonymous_variant	LOW	GRIN2C	ENSG00000161509	Transcript	ENST00000940919.1	protein_coding	13/14	-	ENST00000940919.1:c.2601G>A	ENSP00000610978.1:p.Ser867%3D	2927	2601	867	S	tcG/tcA	rs2037390873,COSV53111533	C	C/T	-	-1	-	HGNC	HGNC:4587	-	-	-	-	-	A2	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:74844321-74844321	T	synonymous_variant	LOW	GRIN2C	ENSG00000161509	Transcript	ENST00000940920.1	protein_coding	12/13	-	ENST00000940920.1:c.2538G>A	ENSP00000610979.1:p.Ser846%3D	2984	2538	846	S	tcG/tcA	rs2037390873,COSV53111533	C	C/T	-	-1	-	HGNC	HGNC:4587	-	-	-	-	-	P4	-	-	-	-	6.157e-06	0	0	0	0	0	0	7.194e-06	0	1.159e-05	6.573e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:75005208-75005208	T	3_prime_UTR_variant	MODIFIER	CDR2L	ENSG00000109089	Transcript	ENST00000337231.5	protein_coding	5/5	-	ENST00000337231.5:c.*1134C>T	-	2944	-	-	-	-	rs1366384403	C	C/T	-	1	-	HGNC	HGNC:29999	YES	MANE_Select	NM_014603.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1.971e-05	7.237e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75005208-75005208	T	3_prime_UTR_variant	MODIFIER	CDR2L	ENSG00000109089	Transcript	ENST00000909937.1	protein_coding	5/5	-	ENST00000909937.1:c.*1134C>T	-	2966	-	-	-	-	rs1366384403	C	C/T	-	1	-	HGNC	HGNC:29999	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1.971e-05	7.237e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	5_prime_UTR_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000245544.9	protein_coding	1/19	-	ENST00000245544.9:c.-36G>T	-	48	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	YES	MANE_Select	NM_024844.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	non_coding_transcript_exon_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000449421.6	protein_coding_CDS_not_defined	1/11	-	ENST00000449421.6:n.18G>T	-	18	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	non_coding_transcript_exon_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000577208.5	protein_coding_CDS_not_defined	1/7	-	ENST00000577208.5:n.7G>T	-	7	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	5_prime_UTR_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000579298.5	protein_coding	1/18	-	ENST00000579298.5:c.-36G>T	-	7	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	5_prime_UTR_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000579324.5	protein_coding	1/18	-	ENST00000579324.5:c.-278G>T	-	20	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	5_prime_UTR_variant,NMD_transcript_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000581104.5	nonsense_mediated_decay	1/17	-	ENST00000581104.5:c.-36G>T	-	7	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	non_coding_transcript_exon_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000582833.5	protein_coding_CDS_not_defined	1/3	-	ENST00000582833.5:n.20G>T	-	20	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	non_coding_transcript_exon_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000583548.1	protein_coding_CDS_not_defined	1/7	-	ENST00000583548.1:n.7G>T	-	7	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	5_prime_UTR_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000583569.5	protein_coding	1/6	-	ENST00000583569.5:c.-125G>T	-	68	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:8734	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	non_coding_transcript_exon_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000583948.5	protein_coding_CDS_not_defined	1/11	-	ENST00000583948.5:n.37G>T	-	37	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	upstream_gene_variant	MODIFIER	-	ENSG00000298027	Transcript	ENST00000752566.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	332	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	5_prime_UTR_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000898366.1	protein_coding	1/19	-	ENST00000898366.1:c.-36G>T	-	41	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	5_prime_UTR_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000898367.1	protein_coding	1/18	-	ENST00000898367.1:c.-36G>T	-	37	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	5_prime_UTR_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000916514.1	protein_coding	1/18	-	ENST00000916514.1:c.-36G>T	-	35	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	5_prime_UTR_variant	MODIFIER	NUP85	ENSG00000125450	Transcript	ENST00000968072.1	protein_coding	1/20	-	ENST00000968072.1:c.-36G>T	-	42	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:8734	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75205726-75205726	T	regulatory_region_variant	MODIFIER	-	-	RegulatoryFeature	ENSR17_934SXT	promoter	-	-	-	-	-	-	-	-	-	-	G	G/T	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	MRPS7	ENSG00000125445	Transcript	ENST00000245539.11	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	270	1	-	HGNC	HGNC:14499	YES	MANE_Select	NM_015971.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000245551.9	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4624	-1	-	HGNC	HGNC:24030	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000325102.13	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	YES	MANE_Select	NM_001370592.1	-	2	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000537686.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3	-1	-	HGNC	HGNC:17079	YES	MANE_Select	NM_138619.4	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000538886.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	9	-1	-	HGNC	HGNC:17079	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	5_prime_UTR_variant,NMD_transcript_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000577435.5	nonsense_mediated_decay	1/6	-	ENST00000577435.5:c.-22C>A	-	9	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17079	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000577542.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4655	-1	-	HGNC	HGNC:24030	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	MRPS7	ENSG00000125445	Transcript	ENST00000577767.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1000	1	-	HGNC	HGNC:14499	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	intron_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000578348.5	protein_coding	-	1/15	ENST00000578348.5:c.-228+673C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17079	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	MRPS7	ENSG00000125445	Transcript	ENST00000579002.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	303	1	-	HGNC	HGNC:14499	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000579194.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4669	-1	-	HGNC	HGNC:24030	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000579297.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4638	-1	-	HGNC	HGNC:24030	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	intron_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000579743.2	protein_coding	-	1/5	ENST00000579743.2:c.-346+673C>A	-	-	-	-	-	-	-	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:17079	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	MRPS7	ENSG00000125445	Transcript	ENST00000579761.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	65	1	-	HGNC	HGNC:14499	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000580571.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4826	-1	-	HGNC	HGNC:24030	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000580799.2	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	16	-1	cds_end_NF	HGNC	HGNC:17079	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000581777.2	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	MRPS7	ENSG00000125445	Transcript	ENST00000581993.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1017	1	cds_start_NF	HGNC	HGNC:14499	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000582376.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	16	-1	-	HGNC	HGNC:17079	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	intron_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000582486.5	protein_coding	-	1/16	ENST00000582486.5:c.-177+673C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17079	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	intron_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000582717.5	protein_coding	-	1/16	ENST00000582717.5:c.-177+673C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17079	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000582821.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	19	-1	-	HGNC	HGNC:17079	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	MRPS7	ENSG00000125445	Transcript	ENST00000583407.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	352	1	cds_start_NF	HGNC	HGNC:14499	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000584243.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	24	-1	cds_start_NF	HGNC	HGNC:17079	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	MRPS7	ENSG00000125445	Transcript	ENST00000584678.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1064	1	cds_start_NF	HGNC	HGNC:14499	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	non_coding_transcript_exon_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000613421.4	retained_intron	1/14	-	ENST00000613421.4:n.15C>A	-	15	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17079	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000618645.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4674	-1	-	HGNC	HGNC:24030	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	5_prime_UTR_variant,NMD_transcript_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000621217.4	nonsense_mediated_decay	1/15	-	ENST00000621217.4:c.-22C>A	-	13	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17079	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000621870.4	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	9	-1	-	HGNC	HGNC:17079	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	5_prime_UTR_variant,NMD_transcript_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000649398.1	nonsense_mediated_decay	1/18	-	ENST00000649398.1:c.-22C>A	-	23	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17079	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000649805.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4903	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000678201.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4659	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	5_prime_UTR_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000878323.1	protein_coding	1/17	-	ENST00000878323.1:c.-22C>A	-	13	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17079	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	MRPS7	ENSG00000125445	Transcript	ENST00000886316.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	65	1	-	HGNC	HGNC:14499	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	MRPS7	ENSG00000125445	Transcript	ENST00000886317.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	289	1	-	HGNC	HGNC:14499	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886601.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886602.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886603.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886604.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886605.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4627	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886606.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886607.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886608.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4624	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886609.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886610.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886611.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886612.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886613.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886614.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000886615.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	MRPS7	ENSG00000125445	Transcript	ENST00000912532.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	92	1	-	HGNC	HGNC:14499	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	MRPS7	ENSG00000125445	Transcript	ENST00000912533.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	270	1	-	HGNC	HGNC:14499	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	5_prime_UTR_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000924698.1	protein_coding	1/15	-	ENST00000924698.1:c.-22C>A	-	18	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:17079	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000924699.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4	-1	-	HGNC	HGNC:17079	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000924700.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3	-1	-	HGNC	HGNC:17079	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000924701.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3	-1	-	HGNC	HGNC:17079	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000924702.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3	-1	-	HGNC	HGNC:17079	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000924703.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3	-1	-	HGNC	HGNC:17079	-	-	-	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000924704.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	5	-1	-	HGNC	HGNC:17079	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000924705.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	10	-1	-	HGNC	HGNC:17079	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000924706.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	14	-1	-	HGNC	HGNC:17079	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000924707.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	5	-1	-	HGNC	HGNC:17079	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	MRPS7	ENSG00000125445	Transcript	ENST00000941392.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	61	1	-	HGNC	HGNC:14499	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000941498.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4623	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000941499.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000941500.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000941501.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4624	-1	-	HGNC	HGNC:24030	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000955609.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	10	-1	-	HGNC	HGNC:17079	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	upstream_gene_variant	MODIFIER	GGA3	ENSG00000125447	Transcript	ENST00000955610.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	14	-1	-	HGNC	HGNC:17079	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75261609-75261609	T	regulatory_region_variant	MODIFIER	-	-	RegulatoryFeature	ENSR17_934TK5	promoter	-	-	-	-	-	-	-	-	-	-	G	G/T	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	17:75260879-75261878,17:75261607-75262606	promoter_window,promoter_window	ENSG00000125445_promoter_window,ENSG00000125447_promoter_window	ENSG00000125445.11,ENSG00000125447.18
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000314256.12	protein_coding	-	27/31	ENST00000314256.12:c.3489+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	YES	MANE_Select	NM_014738.6	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000321617.8	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2374	-1	-	HGNC	HGNC:18200	YES	MANE_Select	NM_020753.5	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000375248.9	protein_coding	-	26/30	ENST00000375248.9:c.3519+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000433559.6	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2922	-1	-	HGNC	HGNC:18200	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	upstream_gene_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000577194.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	330	1	-	HGNC	HGNC:28983	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000577245.2	protein_coding	-	27/31	ENST00000577245.2:c.3489+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000577247.6	protein_coding	-	26/30	ENST00000577247.6:c.3411+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000578624.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	4357	1	-	HGNC	HGNC:28983	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000578853.2	protein_coding	-	27/31	ENST00000578853.2:c.3441+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant,non_coding_transcript_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000579898.5	retained_intron	-	4/7	ENST00000579898.5:n.1176+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000580918.2	protein_coding	-	27/31	ENST00000580918.2:c.3501+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant,non_coding_transcript_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000581085.5	retained_intron	-	26/30	ENST00000581085.5:n.4094+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant,non_coding_transcript_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000581453.1	retained_intron	-	3/5	ENST00000581453.1:n.248+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000581723.5	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	1496	1	-	HGNC	HGNC:28983	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000581867.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	1486	1	-	HGNC	HGNC:28983	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000583071.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	4967	1	-	HGNC	HGNC:28983	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000583296.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	4904	1	-	HGNC	HGNC:28983	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000584694.1	protein_coding	-	2/5	ENST00000584694.1:c.115+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	cds_start_NF,cds_end_NF	HGNC	HGNC:28983	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant,non_coding_transcript_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000585105.5	retained_intron	-	24/28	ENST00000585105.5:n.4258+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	upstream_gene_variant	MODIFIER	MIR6785	ENSG00000284595	Transcript	ENST00000618984.1	miRNA	-	-	-	-	-	-	-	-	-	-	C	C/A	661	1	-	HGNC	HGNC:50206	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000705117.1	protein_coding	-	27/31	ENST00000705117.1:c.3501+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861530.1	protein_coding	-	27/31	ENST00000861530.1:c.3531+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861531.1	protein_coding	-	27/31	ENST00000861531.1:c.3453+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861532.1	protein_coding	-	27/31	ENST00000861532.1:c.3450+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861533.1	protein_coding	-	27/31	ENST00000861533.1:c.3495+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861534.1	protein_coding	-	26/30	ENST00000861534.1:c.3279+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861535.1	protein_coding	-	26/30	ENST00000861535.1:c.3363+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861536.1	protein_coding	-	27/31	ENST00000861536.1:c.3519+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861537.1	protein_coding	-	27/31	ENST00000861537.1:c.3498+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861538.1	protein_coding	-	27/31	ENST00000861538.1:c.3438+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861539.1	protein_coding	-	27/31	ENST00000861539.1:c.3570+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861540.1	protein_coding	-	18/22	ENST00000861540.1:c.2352+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861541.1	protein_coding	-	27/31	ENST00000861541.1:c.3486+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861542.1	protein_coding	-	26/30	ENST00000861542.1:c.3444+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861543.1	protein_coding	-	24/28	ENST00000861543.1:c.3222+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861544.1	protein_coding	-	23/27	ENST00000861544.1:c.3120+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861545.1	protein_coding	-	27/31	ENST00000861545.1:c.3507+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861546.1	protein_coding	-	26/30	ENST00000861546.1:c.3423+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861547.1	protein_coding	-	27/31	ENST00000861547.1:c.3483+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861548.1	protein_coding	-	26/30	ENST00000861548.1:c.3291+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861549.1	protein_coding	-	20/24	ENST00000861549.1:c.2511+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000861550.1	protein_coding	-	27/31	ENST00000861550.1:c.3489+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000861906.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2374	-1	-	HGNC	HGNC:18200	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000861907.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2377	-1	-	HGNC	HGNC:18200	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000861908.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2374	-1	-	HGNC	HGNC:18200	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000861909.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2374	-1	-	HGNC	HGNC:18200	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000861910.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2374	-1	-	HGNC	HGNC:18200	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000861911.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2374	-1	-	HGNC	HGNC:18200	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000861912.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2376	-1	-	HGNC	HGNC:18200	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000861913.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2374	-1	-	HGNC	HGNC:18200	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000861914.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2543	-1	-	HGNC	HGNC:18200	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000861915.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2376	-1	-	HGNC	HGNC:18200	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000913138.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2375	-1	-	HGNC	HGNC:18200	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000913139.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2374	-1	-	HGNC	HGNC:18200	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000913140.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2377	-1	-	HGNC	HGNC:18200	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000913141.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2377	-1	-	HGNC	HGNC:18200	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000937075.1	protein_coding	-	25/29	ENST00000937075.1:c.3231+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000937076.1	protein_coding	-	27/31	ENST00000937076.1:c.3525+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000937077.1	protein_coding	-	27/31	ENST00000937077.1:c.3477+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000937078.1	protein_coding	-	27/31	ENST00000937078.1:c.3471+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000937079.1	protein_coding	-	27/31	ENST00000937079.1:c.3531+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000937080.1	protein_coding	-	26/30	ENST00000937080.1:c.3402+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000956009.1	protein_coding	-	23/27	ENST00000956009.1:c.3075+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000956010.1	protein_coding	-	18/22	ENST00000956010.1:c.2400+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000956011.1	protein_coding	-	27/31	ENST00000956011.1:c.3582+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	intron_variant	MODIFIER	TMEM94	ENSG00000177728	Transcript	ENST00000956012.1	protein_coding	-	27/31	ENST00000956012.1:c.3447+25C>A	-	-	-	-	-	-	-	C	C/A	-	1	-	HGNC	HGNC:28983	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	upstream_gene_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000577342.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/C	1753	1	cds_start_NF	HGNC	HGNC:14083	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	upstream_gene_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000577785.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	4138	1	-	HGNC	HGNC:14083	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	upstream_gene_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000578005.4	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	1723	1	-	HGNC	HGNC:14083	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	upstream_gene_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000578300.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	2663	1	-	HGNC	HGNC:14083	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	upstream_gene_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000578960.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	2643	1	-	HGNC	HGNC:14083	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	downstream_gene_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000582012.3	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/C	4002	1	cds_start_NF	HGNC	HGNC:14083	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	upstream_gene_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000583140.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	4942	1	cds_start_NF	HGNC	HGNC:14083	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	intron_variant,NMD_transcript_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000584516.5	nonsense_mediated_decay	-	27/32	ENST00000584516.5:c.*2798-24G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:14083	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	upstream_gene_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000584723.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/C	328	1	cds_start_NF	HGNC	HGNC:14083	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	upstream_gene_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000610429.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	926	1	-	HGNC	HGNC:14083	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	intron_variant,NMD_transcript_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000610510.5	nonsense_mediated_decay	-	32/62	ENST00000610510.5:c.*1302-24G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:14083	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	intron_variant,NMD_transcript_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000612587.4	nonsense_mediated_decay	-	6/33	ENST00000612587.4:c.*342-24G>C	-	-	-	-	-	-	-	G	G/C	-	1	cds_start_NF	HGNC	HGNC:14083	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	intron_variant,NMD_transcript_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000619501.4	nonsense_mediated_decay	-	29/41	ENST00000619501.4:c.*3396-24G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:14083	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	intron_variant,NMD_transcript_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000621743.5	nonsense_mediated_decay	-	30/58	ENST00000621743.5:c.*1177-24G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:14083	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	intron_variant,non_coding_transcript_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000633867.1	retained_intron	-	21/50	ENST00000633867.1:n.2383-24G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:14083	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	intron_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000642007.2	protein_coding	-	11/41	ENST00000642007.2:c.1117-24G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:14083	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	intron_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000645453.3	protein_coding	-	32/63	ENST00000645453.3:c.5560-24G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:14083	YES	MANE_Select	NM_001395058.1	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	intron_variant,NMD_transcript_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000687098.1	nonsense_mediated_decay	-	33/63	ENST00000687098.1:c.*1302-24G>C	-	-	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:14083	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75614937-75614937	C	intron_variant,NMD_transcript_variant	MODIFIER	MYO15B	ENSG00000266714	Transcript	ENST00000704641.1	nonsense_mediated_decay	-	7/37	ENST00000704641.1:c.*342-24G>C	-	-	-	-	-	-	-	G	G/C	-	1	cds_start_NF	HGNC	HGNC:14083	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	GALR2	ENSG00000182687	Transcript	ENST00000329003.4	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4303	1	-	HGNC	HGNC:4133	YES	MANE_Select	NM_003857.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	3_prime_UTR_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000332065.9	protein_coding	18/18	-	ENST00000332065.9:c.*1808C>A	-	3773	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23214	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	intron_variant	MODIFIER	ZACN	ENSG00000186919	Transcript	ENST00000334586.10	protein_coding	-	7/8	ENST00000334586.10:c.881-42G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29504	YES	MANE_Select	NM_180990.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000335146.11	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	551	-1	-	HGNC	HGNC:23214	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000357231.8	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1737	-1	cds_start_NF	HGNC	HGNC:23214	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000405575.8	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1736	-1	-	HGNC	HGNC:23214	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000411744.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1808	-1	-	HGNC	HGNC:23214	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	intron_variant,NMD_transcript_variant	MODIFIER	ZACN	ENSG00000186919	Transcript	ENST00000421794.1	nonsense_mediated_decay	-	5/6	ENST00000421794.1:c.*502-42G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29504	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	intron_variant,NMD_transcript_variant	MODIFIER	ZACN	ENSG00000186919	Transcript	ENST00000425015.5	nonsense_mediated_decay	-	7/8	ENST00000425015.5:c.*774-42G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29504	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000460476.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3529	-1	-	HGNC	HGNC:23214	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	non_coding_transcript_exon_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000465252.5	retained_intron	3/3	-	ENST00000465252.5:n.2514C>A	-	2514	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23214	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000467586.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1737	-1	-	HGNC	HGNC:23214	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000467929.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1679	-1	-	HGNC	HGNC:23214	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000494787.6	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3270	-1	-	HGNC	HGNC:23214	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	ZACN	ENSG00000186919	Transcript	ENST00000524242.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1794	1	-	HGNC	HGNC:29504	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	3_prime_UTR_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000589210.6	protein_coding	19/19	-	ENST00000589210.6:c.*1808C>A	-	3958	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23214	YES	MANE_Select	NM_001013839.4	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	non_coding_transcript_exon_variant	MODIFIER	ZACN	ENSG00000186919	Transcript	ENST00000590045.1	retained_intron	1/1	-	ENST00000590045.1:n.825G>T	-	825	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29504	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	ZACN	ENSG00000186919	Transcript	ENST00000591500.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2062	1	-	HGNC	HGNC:29504	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	intron_variant,non_coding_transcript_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000591724.1	protein_coding_CDS_not_defined	-	1/1	ENST00000591724.1:n.124-594C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23214	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000592559.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	3837	-1	cds_start_NF	HGNC	HGNC:23214	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000607838.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	552	-1	-	HGNC	HGNC:23214	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000634349.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1808	-1	-	HGNC	HGNC:23214	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	3_prime_UTR_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000891870.1	protein_coding	18/18	-	ENST00000891870.1:c.*1808C>A	-	3862	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23214	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000891871.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	551	-1	-	HGNC	HGNC:23214	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	3_prime_UTR_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000930301.1	protein_coding	17/17	-	ENST00000930301.1:c.*1808C>A	-	3802	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23214	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	3_prime_UTR_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000930302.1	protein_coding	18/18	-	ENST00000930302.1:c.*1808C>A	-	3830	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23214	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	3_prime_UTR_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000945913.1	protein_coding	18/18	-	ENST00000945913.1:c.*1808C>A	-	3895	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23214	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	3_prime_UTR_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000945914.1	protein_coding	17/17	-	ENST00000945914.1:c.*1808C>A	-	3799	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:23214	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000945915.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	548	-1	-	HGNC	HGNC:23214	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000945916.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1737	-1	-	HGNC	HGNC:23214	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000945917.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1737	-1	-	HGNC	HGNC:23214	-	-	-	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76081840-76081840	T	downstream_gene_variant	MODIFIER	EXOC7	ENSG00000182473	Transcript	ENST00000945918.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1739	-1	-	HGNC	HGNC:23214	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76167244-76167244	T	intron_variant	MODIFIER	RNF157	ENSG00000141576	Transcript	ENST00000269391.11	protein_coding	-	4/18	ENST00000269391.11:c.444-118C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29402	YES	MANE_Select	NM_052916.3	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76167244-76167244	T	intron_variant	MODIFIER	RNF157	ENSG00000141576	Transcript	ENST00000319945.10	protein_coding	-	4/17	ENST00000319945.10:c.444-118C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29402	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76167244-76167244	T	upstream_gene_variant	MODIFIER	RNF157	ENSG00000141576	Transcript	ENST00000591615.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	162	-1	cds_start_NF	HGNC	HGNC:29402	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76167244-76167244	T	intron_variant	MODIFIER	RNF157	ENSG00000141576	Transcript	ENST00000647930.1	protein_coding	-	4/18	ENST00000647930.1:c.444-118C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29402	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76167244-76167244	T	intron_variant	MODIFIER	RNF157	ENSG00000141576	Transcript	ENST00000970079.1	protein_coding	-	4/17	ENST00000970079.1:c.444-118C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29402	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76167244-76167244	T	intron_variant	MODIFIER	RNF157	ENSG00000141576	Transcript	ENST00000970080.1	protein_coding	-	4/15	ENST00000970080.1:c.444-118C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29402	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	upstream_gene_variant	MODIFIER	CYGB	ENSG00000161544	Transcript	ENST00000293230.10	protein_coding	-	-	-	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	2545	-1	-	HGNC	HGNC:16505	YES	MANE_Select	NM_134268.5	-	1	P1	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	upstream_gene_variant	MODIFIER	PRCD	ENSG00000214140	Transcript	ENST00000397630.7	retained_intron	-	-	-	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	216	1	-	HGNC	HGNC:32528	-	-	-	-	3	-	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	intron_variant,non_coding_transcript_variant	MODIFIER	PRCD	ENSG00000214140	Transcript	ENST00000397633.7	protein_coding_CDS_not_defined	-	1/4	ENST00000397633.7:n.46-251_46-250insC	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	-	1	-	HGNC	HGNC:32528	-	-	-	-	1	-	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	intron_variant,non_coding_transcript_variant	MODIFIER	PRCD	ENSG00000214140	Transcript	ENST00000465808.7	protein_coding_CDS_not_defined	-	1/3	ENST00000465808.7:n.93-251_93-250insC	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	-	1	-	HGNC	HGNC:32528	-	-	-	-	5	-	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	intron_variant	MODIFIER	PRCD	ENSG00000214140	Transcript	ENST00000586148.1	protein_coding	-	1/3	ENST00000586148.1:c.74+39_74+40insC	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	-	1	-	HGNC	HGNC:32528	-	-	-	-	5	P1	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	upstream_gene_variant	MODIFIER	PRCD	ENSG00000214140	Transcript	ENST00000587289.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	294	1	-	HGNC	HGNC:32528	-	-	-	-	5	-	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	upstream_gene_variant	MODIFIER	PRCD	ENSG00000214140	Transcript	ENST00000587813.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	281	1	-	HGNC	HGNC:32528	-	-	-	-	3	-	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	intron_variant	MODIFIER	CYGB	ENSG00000161544	Transcript	ENST00000589145.1	protein_coding	-	1/3	ENST00000589145.1:c.-52-8564_-52-8563insG	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	-	-1	-	HGNC	HGNC:16505	-	-	-	-	3	-	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	upstream_gene_variant	MODIFIER	CYGB	ENSG00000161544	Transcript	ENST00000589342.1	protein_coding	-	-	-	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	2602	-1	-	HGNC	HGNC:16505	-	-	-	-	3	-	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	intron_variant,non_coding_transcript_variant	MODIFIER	PRCD	ENSG00000214140	Transcript	ENST00000590555.5	protein_coding_CDS_not_defined	-	1/3	ENST00000590555.5:n.445-251_445-250insC	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	-	1	-	HGNC	HGNC:32528	-	-	-	-	3	-	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	upstream_gene_variant	MODIFIER	PRCD	ENSG00000214140	Transcript	ENST00000591317.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	3588	1	-	HGNC	HGNC:32528	-	-	-	-	2	-	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	intron_variant	MODIFIER	PRCD	ENSG00000214140	Transcript	ENST00000592014.6	protein_coding	-	1/4	ENST00000592014.6:c.74+39_74+40insC	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	-	1	-	HGNC	HGNC:32528	YES	MANE_Select	NM_001077620.3	-	1	P1	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	upstream_gene_variant	MODIFIER	PRCD	ENSG00000214140	Transcript	ENST00000592340.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	294	1	-	HGNC	HGNC:32528	-	-	-	-	5	-	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	intron_variant,non_coding_transcript_variant	MODIFIER	PRCD	ENSG00000214140	Transcript	ENST00000592432.5	protein_coding_CDS_not_defined	-	1/6	ENST00000592432.5:n.249-251_249-250insC	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	-	1	-	HGNC	HGNC:32528	-	-	-	-	2	-	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76540254-76540254	C	regulatory_region_variant	MODIFIER	-	-	RegulatoryFeature	ENSR17_C9L3R	enhancer	-	-	-	-	-	-	-	-	-	rs575918636,COSV99506311	-	G/GC	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0.00117	0.0001424	0.0002184	0.0004074	0.0001865	9.843e-05	0	0.001543	0.001192	0.0001558	0.0001326	3.702e-05	0	0.0002737	0	0.0005126	0	0	0.000139	0	0.0004209	-	0,1	0,1	-	-	-	-	-	-	-	-	-	-	-
.	17:76680930-76680930	G	intron_variant	MODIFIER	MXRA7	ENSG00000182534	Transcript	ENST00000355797.7	protein_coding	-	3/3	ENST00000355797.7:c.501-3228G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:7541	-	-	-	-	2	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76680930-76680930	G	intron_variant	MODIFIER	MXRA7	ENSG00000182534	Transcript	ENST00000375036.6	protein_coding	-	4/4	ENST00000375036.6:c.*48-51G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:7541	-	-	-	-	2	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76680930-76680930	G	intron_variant	MODIFIER	MXRA7	ENSG00000182534	Transcript	ENST00000449428.7	protein_coding	-	3/3	ENST00000449428.7:c.501-51G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:7541	YES	MANE_Select	NM_198530.4	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76680930-76680930	G	intron_variant	MODIFIER	MXRA7	ENSG00000182534	Transcript	ENST00000585519.5	protein_coding	-	3/3	ENST00000585519.5:c.36-51G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:7541	-	-	-	-	5	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76680930-76680930	G	intron_variant	MODIFIER	MXRA7	ENSG00000182534	Transcript	ENST00000588114.5	protein_coding	-	3/3	ENST00000588114.5:c.36-51G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:7541	-	-	-	-	4	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76680930-76680930	G	intron_variant	MODIFIER	MXRA7	ENSG00000182534	Transcript	ENST00000589082.1	protein_coding	-	4/4	ENST00000589082.1:c.*48-51G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:7541	-	-	-	-	4	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76680930-76680930	G	intron_variant	MODIFIER	MXRA7	ENSG00000182534	Transcript	ENST00000592148.1	protein_coding	-	2/2	ENST00000592148.1:c.630-51G>C	-	-	-	-	-	-	-	C	C/G	-	-1	-	HGNC	HGNC:7541	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76680930-76680930	G	intron_variant,non_coding_transcript_variant	MODIFIER	SNHG16	ENSG00000163597	Transcript	ENST00000738069.1	lncRNA	-	3/3	ENST00000738069.1:n.289-32916C>G	-	-	-	-	-	-	-	C	C/G	-	1	-	HGNC	HGNC:44352	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76680930-76680930	G	downstream_gene_variant	MODIFIER	SNHG16	ENSG00000163597	Transcript	ENST00000738070.1	lncRNA	-	-	-	-	-	-	-	-	-	-	C	C/G	3062	1	-	HGNC	HGNC:44352	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:76680930-76680930	G	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000296346	Transcript	ENST00000738461.1	lncRNA	-	1/1	ENST00000738461.1:n.133+9758C>G	-	-	-	-	-	-	-	C	C/G	-	1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000329047.13	protein_coding	-	3/10	ENST00000329047.13:c.859+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	MANE_Plus_Clinical	-	NM_006640.5	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000423034.6	protein_coding	-	3/10	ENST00000423034.6:c.892+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000427177.6	protein_coding	-	4/11	ENST00000427177.6:c.913+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	YES	MANE_Select	NM_001113491.2	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000427180.5	protein_coding	-	2/9	ENST00000427180.5:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	2	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000427674.6	protein_coding	-	3/10	ENST00000427674.6:c.421+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000431235.6	protein_coding	-	4/11	ENST00000431235.6:c.421+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000449803.6	protein_coding	-	4/11	ENST00000449803.6:c.421+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000541152.6	protein_coding	-	2/9	ENST00000541152.6:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant,non_coding_transcript_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000585638.1	protein_coding_CDS_not_defined	-	2/4	ENST00000585638.1:n.292+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000585929.5	protein_coding	-	2/4	ENST00000585929.5:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:7323	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000585930.5	protein_coding	-	2/9	ENST00000585930.5:c.241+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000586128.5	protein_coding	-	3/4	ENST00000586128.5:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:7323	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000586433.5	protein_coding	-	2/4	ENST00000586433.5:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:7323	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000586521.5	protein_coding	-	2/3	ENST00000586521.5:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:7323	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant,NMD_transcript_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000588575.1	nonsense_mediated_decay	-	2/4	ENST00000588575.1:c.196-4958G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000588690.6	protein_coding	-	3/10	ENST00000588690.6:c.421+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000588958.6	protein_coding	-	2/5	ENST00000588958.6:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:7323	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant,non_coding_transcript_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000589250.6	retained_intron	-	2/7	ENST00000589250.6:n.217+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant,non_coding_transcript_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000589920.5	retained_intron	-	1/2	ENST00000589920.5:n.426+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000590059.5	protein_coding	-	3/3	ENST00000590059.5:c.364+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:7323	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant,non_coding_transcript_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000590294.6	retained_intron	-	3/6	ENST00000590294.6:n.962+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000590917.5	protein_coding	-	2/2	ENST00000590917.5:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000590938.5	protein_coding	-	2/4	ENST00000590938.5:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:7323	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000591020.5	protein_coding	-	2/4	ENST00000591020.5:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:7323	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000591088.5	protein_coding	-	2/9	ENST00000591088.5:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	2	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000591198.5	protein_coding	-	3/10	ENST00000591198.5:c.856+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000591472.6	protein_coding	-	2/4	ENST00000591472.6:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:7323	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000591704.5	protein_coding	-	2/5	ENST00000591704.5:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:7323	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	non_coding_transcript_exon_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000592420.1	retained_intron	2/2	-	ENST00000592420.1:n.984G>T	-	984	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant,NMD_transcript_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000592481.6	nonsense_mediated_decay	-	2/9	ENST00000592481.6:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000592951.5	protein_coding	-	2/9	ENST00000592951.5:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	2	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000593189.6	protein_coding	-	2/5	ENST00000593189.6:c.160+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:7323	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000873887.1	protein_coding	-	4/11	ENST00000873887.1:c.913+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:77482524-77482524	T	intron_variant	MODIFIER	SEPTIN9	ENSG00000184640	Transcript	ENST00000873888.1	protein_coding	-	4/11	ENST00000873888.1:c.913+189G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:7323	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78093823-78093823	T	intron_variant	MODIFIER	TNRC6C	ENSG00000078687	Transcript	ENST00000588061.6	protein_coding	-	14/17	ENST00000588061.6:c.4456+60G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:29318	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78093823-78093823	T	downstream_gene_variant	MODIFIER	TNRC6C	ENSG00000078687	Transcript	ENST00000592251.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	524	1	-	HGNC	HGNC:29318	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78093823-78093823	T	upstream_gene_variant	MODIFIER	TNRC6C	ENSG00000078687	Transcript	ENST00000592566.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4519	1	-	HGNC	HGNC:29318	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78093823-78093823	T	intron_variant	MODIFIER	TNRC6C	ENSG00000078687	Transcript	ENST00000636222.1	protein_coding	-	18/22	ENST00000636222.1:c.4951+60G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29318	-	-	-	-	5	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78093823-78093823	T	intron_variant	MODIFIER	TNRC6C	ENSG00000078687	Transcript	ENST00000696270.1	protein_coding	-	18/22	ENST00000696270.1:c.4927+60G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29318	YES	MANE_Select	NM_001142640.2	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78093823-78093823	T	intron_variant	MODIFIER	TNRC6C	ENSG00000078687	Transcript	ENST00000696541.1	protein_coding	-	18/21	ENST00000696541.1:c.4927+60G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29318	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78093823-78093823	T	intron_variant	MODIFIER	TNRC6C	ENSG00000078687	Transcript	ENST00000935185.1	protein_coding	-	17/21	ENST00000935185.1:c.4777+60G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29318	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78093823-78093823	T	intron_variant	MODIFIER	TNRC6C	ENSG00000078687	Transcript	ENST00000935186.1	protein_coding	-	18/22	ENST00000935186.1:c.4927+60G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29318	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78093823-78093823	T	intron_variant	MODIFIER	TNRC6C	ENSG00000078687	Transcript	ENST00000935187.1	protein_coding	-	16/20	ENST00000935187.1:c.4660+60G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29318	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78093823-78093823	T	intron_variant	MODIFIER	TNRC6C	ENSG00000078687	Transcript	ENST00000935188.1	protein_coding	-	17/21	ENST00000935188.1:c.4786+60G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29318	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78093823-78093823	T	intron_variant	MODIFIER	TNRC6C	ENSG00000078687	Transcript	ENST00000935189.1	protein_coding	-	18/22	ENST00000935189.1:c.4936+60G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29318	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78093823-78093823	T	intron_variant	MODIFIER	TNRC6C	ENSG00000078687	Transcript	ENST00000935190.1	protein_coding	-	18/22	ENST00000935190.1:c.4771+60G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29318	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000262764.11	protein_coding	-	7/9	ENST00000262764.11:c.1403-132C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	YES	MANE_Select	NM_024419.5	-	1	P2	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant,non_coding_transcript_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000585521.2	protein_coding_CDS_not_defined	-	5/6	ENST00000585521.2:n.595-205C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	5	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000586019.1	protein_coding	-	1/1	ENST00000586019.1:c.256-4799C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	cds_start_NF	HGNC	HGNC:30029	-	-	-	-	4	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000586355.1	protein_coding	-	1/2	ENST00000586355.1:c.127-205C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	cds_start_NF	HGNC	HGNC:30029	-	-	-	-	4	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant,NMD_transcript_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000588169.5	nonsense_mediated_decay	-	6/8	ENST00000588169.5:c.*1032-132C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	2	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant,non_coding_transcript_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000588281.5	protein_coding_CDS_not_defined	-	3/5	ENST00000588281.5:n.951-132C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	1	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant,NMD_transcript_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000589425.5	nonsense_mediated_decay	-	6/8	ENST00000589425.5:c.*1002-132C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	1	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant,NMD_transcript_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000589426.5	nonsense_mediated_decay	-	6/8	ENST00000589426.5:c.1325-205C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	1	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant,non_coding_transcript_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000591996.1	retained_intron	-	2/3	ENST00000591996.1:n.548-132C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	1	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000890418.1	protein_coding	-	1/3	ENST00000890418.1:c.144-205C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	-	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000890419.1	protein_coding	-	7/9	ENST00000890419.1:c.1277-132C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	-	A2	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000890420.1	protein_coding	-	5/7	ENST00000890420.1:c.702-205C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	-	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000890421.1	protein_coding	-	7/9	ENST00000890421.1:c.1223-132C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	-	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000890422.1	protein_coding	-	5/6	ENST00000890422.1:c.702-205C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	-	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000920347.1	protein_coding	-	6/8	ENST00000920347.1:c.881-132C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	-	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000920348.1	protein_coding	-	6/8	ENST00000920348.1:c.881-132C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	-	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78414747-78414747	T	intron_variant	MODIFIER	PGS1	ENSG00000087157	Transcript	ENST00000945009.1	protein_coding	-	6/8	ENST00000945009.1:c.1199-132C>T	-	-	-	-	-	-	rs1036425720	C	C/T	-	1	-	HGNC	HGNC:30029	-	-	-	-	-	-	-	-	-	-	1.064e-05	0	0	0	0	0	0	1.334e-05	0	1.628e-05	1.972e-05	7.243e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78484883-78484883	T	missense_variant	MODERATE	DNAH17	ENSG00000187775	Transcript	ENST00000389840.7	protein_coding	48/81	-	ENST00000389840.7:c.7634T>A	ENSP00000374490.6:p.Met2545Lys	7761	7634	2545	M/K	aTg/aAg	-	A	A/T	-	-1	-	HGNC	HGNC:2946	YES	MANE_Select	NM_173628.4	-	5	P1	-	deleterious_low_confidence(0)	benign(0.377)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6587	-	-	-	-
.	17:78484883-78484883	T	non_coding_transcript_exon_variant	MODIFIER	DNAH17	ENSG00000187775	Transcript	ENST00000586052.5	protein_coding_CDS_not_defined	6/35	-	ENST00000586052.5:n.1013T>A	-	1013	-	-	-	-	-	A	A/T	-	-1	-	HGNC	HGNC:2946	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78484883-78484883	T	non_coding_transcript_exon_variant	MODIFIER	DNAH17-AS1	ENSG00000267432	Transcript	ENST00000588565.5	lncRNA	1/3	-	ENST00000588565.5:n.2A>T	-	2	-	-	-	-	-	A	A/T	-	1	-	HGNC	HGNC:48594	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78484883-78484883	T	upstream_gene_variant	MODIFIER	DNAH17-AS1	ENSG00000267432	Transcript	ENST00000591373.2	lncRNA	-	-	-	-	-	-	-	-	-	-	A	A/T	27	1	-	HGNC	HGNC:48594	YES	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78484883-78484883	T	upstream_gene_variant	MODIFIER	DNAH17-AS1	ENSG00000267432	Transcript	ENST00000663269.1	lncRNA	-	-	-	-	-	-	-	-	-	-	A	A/T	35	1	-	HGNC	HGNC:48594	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:78484883-78484883	T	regulatory_region_variant	MODIFIER	-	-	RegulatoryFeature	ENSR17_BKKJS	promoter	-	-	-	-	-	-	-	-	-	-	A	A/T	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000311661.4	protein_coding	3/3	-	ENST00000311661.4:c.426G>T	ENSP00000311265.4:p.Gln142His	751	426	142	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	2	-	-	deleterious_low_confidence(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000339142.6	protein_coding	5/5	-	ENST00000339142.6:c.672G>T	ENSP00000340864.2:p.Gln224His	1227	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	5	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000354124.7	protein_coding	4/4	-	ENST00000354124.7:c.672G>T	ENSP00000343230.4:p.Gln224His	841	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	4	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000392445.6	protein_coding	4/4	-	ENST00000392445.6:c.672G>T	ENSP00000376240.2:p.Gln224His	959	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	2	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000578229.5	protein_coding	4/4	-	ENST00000578229.5:c.426G>T	ENSP00000463337.1:p.Gln142His	961	426	142	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	4	-	-	deleterious_low_confidence(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000579760.6	protein_coding	4/4	-	ENST00000579760.6:c.672G>T	ENSP00000463922.1:p.Gln224His	1012	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	YES	MANE_Select	NM_030968.5	-	1	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000580454.5	protein_coding	5/5	-	ENST00000580454.5:c.672G>T	ENSP00000462990.1:p.Gln224His	1063	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	5	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000580474.1	protein_coding	3/3	-	ENST00000580474.1:c.672G>T	ENSP00000463108.1:p.Gln224His	1048	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	1	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000581774.5	protein_coding	4/4	-	ENST00000581774.5:c.672G>T	ENSP00000462481.2:p.Gln224His	1035	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	1	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	non_coding_transcript_exon_variant	MODIFIER	C1QTNF1	ENSG00000173918	Transcript	ENST00000582625.1	protein_coding_CDS_not_defined	2/2	-	ENST00000582625.1:n.686G>T	-	686	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000583904.5	protein_coding	4/4	-	ENST00000583904.5:c.672G>T	ENSP00000463008.1:p.Gln224His	796	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	4	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000885300.1	protein_coding	5/5	-	ENST00000885300.1:c.672G>T	ENSP00000555359.1:p.Gln224His	1263	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000885301.1	protein_coding	6/6	-	ENST00000885301.1:c.672G>T	ENSP00000555360.1:p.Gln224His	1301	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000885302.1	protein_coding	5/5	-	ENST00000885302.1:c.672G>T	ENSP00000555361.1:p.Gln224His	1117	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000885303.1	protein_coding	6/6	-	ENST00000885303.1:c.672G>T	ENSP00000555362.1:p.Gln224His	1341	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000885304.1	protein_coding	6/6	-	ENST00000885304.1:c.672G>T	ENSP00000555363.1:p.Gln224His	1425	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000885305.1	protein_coding	5/5	-	ENST00000885305.1:c.672G>T	ENSP00000555364.1:p.Gln224His	1161	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000885306.1	protein_coding	5/5	-	ENST00000885306.1:c.672G>T	ENSP00000555365.1:p.Gln224His	1125	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000885307.1	protein_coding	4/4	-	ENST00000885307.1:c.672G>T	ENSP00000555366.1:p.Gln224His	766	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000885308.1	protein_coding	5/5	-	ENST00000885308.1:c.672G>T	ENSP00000555367.1:p.Gln224His	959	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000951174.1	protein_coding	6/6	-	ENST00000951174.1:c.672G>T	ENSP00000621233.1:p.Gln224His	1393	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000951175.1	protein_coding	7/7	-	ENST00000951175.1:c.672G>T	ENSP00000621234.1:p.Gln224His	1653	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000951176.1	protein_coding	4/4	-	ENST00000951176.1:c.672G>T	ENSP00000621235.1:p.Gln224His	1008	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000951177.1	protein_coding	6/6	-	ENST00000951177.1:c.672G>T	ENSP00000621236.1:p.Gln224His	1480	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000951178.1	protein_coding	4/4	-	ENST00000951178.1:c.672G>T	ENSP00000621237.1:p.Gln224His	962	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000951179.1	protein_coding	4/4	-	ENST00000951179.1:c.672G>T	ENSP00000621238.1:p.Gln224His	837	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000951180.1	protein_coding	6/6	-	ENST00000951180.1:c.672G>T	ENSP00000621239.1:p.Gln224His	1353	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000951181.1	protein_coding	5/5	-	ENST00000951181.1:c.672G>T	ENSP00000621240.1:p.Gln224His	1135	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000951182.1	protein_coding	5/5	-	ENST00000951182.1:c.672G>T	ENSP00000621241.1:p.Gln224His	1193	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000951183.1	protein_coding	5/5	-	ENST00000951183.1:c.672G>T	ENSP00000621242.1:p.Gln224His	960	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79047914-79047914	T	missense_variant	MODERATE	C1QTNF1	ENSG00000173918	Transcript	ENST00000951184.1	protein_coding	4/4	-	ENST00000951184.1:c.672G>T	ENSP00000621243.1:p.Gln224His	1817	672	224	Q/H	caG/caT	-	G	G/T	-	1	-	HGNC	HGNC:14324	-	-	-	-	-	P1	-	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000580155.5	protein_coding	-	2/14	ENST00000580155.5:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000583458.5	protein_coding	-	1/13	ENST00000583458.5:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000584778.5	protein_coding	-	2/13	ENST00000584778.5:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000693108.1	protein_coding	-	2/14	ENST00000693108.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	YES	MANE_Select	NM_001350451.2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857744.1	protein_coding	-	2/14	ENST00000857744.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857745.1	protein_coding	-	2/13	ENST00000857745.1:c.-135+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857746.1	protein_coding	-	2/14	ENST00000857746.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857747.1	protein_coding	-	2/13	ENST00000857747.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857748.1	protein_coding	-	2/13	ENST00000857748.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857749.1	protein_coding	-	2/14	ENST00000857749.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857750.1	protein_coding	-	2/13	ENST00000857750.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857751.1	protein_coding	-	2/11	ENST00000857751.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857752.1	protein_coding	-	2/12	ENST00000857752.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857753.1	protein_coding	-	2/11	ENST00000857753.1:c.-135+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857754.1	protein_coding	-	2/13	ENST00000857754.1:c.-273+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857755.1	protein_coding	-	2/14	ENST00000857755.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000857756.1	protein_coding	-	2/14	ENST00000857756.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000917331.1	protein_coding	-	2/12	ENST00000917331.1:c.-135+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000917333.1	protein_coding	-	2/11	ENST00000917333.1:c.-135+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000954784.1	protein_coding	-	2/14	ENST00000954784.1:c.-173+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000954785.1	protein_coding	-	2/13	ENST00000954785.1:c.-135+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000954786.1	protein_coding	-	2/11	ENST00000954786.1:c.-135+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000954787.1	protein_coding	-	2/15	ENST00000954787.1:c.-313+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000954788.1	protein_coding	-	2/14	ENST00000954788.1:c.-357+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000954789.1	protein_coding	-	2/12	ENST00000954789.1:c.-135+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000954790.1	protein_coding	-	2/14	ENST00000954790.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:79481854-79481854	A	intron_variant	MODIFIER	RBFOX3	ENSG00000167281	Transcript	ENST00000954791.1	protein_coding	-	3/15	ENST00000954791.1:c.-175+600G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:27097	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000310924.7	protein_coding	-	3/11	ENST00000310924.7:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	YES	MANE_Select	NM_019020.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000910404.1	protein_coding	-	3/11	ENST00000910404.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000910405.1	protein_coding	-	3/11	ENST00000910405.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000910406.1	protein_coding	-	3/11	ENST00000910406.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000910407.1	protein_coding	-	3/11	ENST00000910407.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926252.1	protein_coding	-	3/11	ENST00000926252.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926253.1	protein_coding	-	3/12	ENST00000926253.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926254.1	protein_coding	-	3/11	ENST00000926254.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926255.1	protein_coding	-	3/12	ENST00000926255.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926256.1	protein_coding	-	3/11	ENST00000926256.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926257.1	protein_coding	-	3/11	ENST00000926257.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926258.1	protein_coding	-	3/12	ENST00000926258.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926259.1	protein_coding	-	3/10	ENST00000926259.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926260.1	protein_coding	-	3/11	ENST00000926260.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926261.1	protein_coding	-	3/11	ENST00000926261.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926262.1	protein_coding	-	3/12	ENST00000926262.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926263.1	protein_coding	-	3/10	ENST00000926263.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000926264.1	protein_coding	-	3/10	ENST00000926264.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80007757-80007757	A	intron_variant	MODIFIER	TBC1D16	ENSG00000167291	Transcript	ENST00000968563.1	protein_coding	-	3/12	ENST00000968563.1:c.779+2403C>T	-	-	-	-	-	-	-	G	G/A	-	-1	-	HGNC	HGNC:28356	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80050160-80050160	T	stop_gained	HIGH	CCDC40	ENSG00000141519	Transcript	ENST00000269318.9	protein_coding	7/11	-	ENST00000269318.9:c.1036G>T	ENSP00000269318.5:p.Glu346Ter	1047	1036	346	E/*	Gag/Tag	-	G	G/T	-	1	-	HGNC	HGNC:26090	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80050160-80050160	T	stop_gained	HIGH	CCDC40	ENSG00000141519	Transcript	ENST00000374876.4	protein_coding	7/9	-	ENST00000374876.4:c.1036G>T	ENSP00000364010.4:p.Glu346Ter	1041	1036	346	E/*	Gag/Tag	-	G	G/T	-	1	-	HGNC	HGNC:26090	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80050160-80050160	T	stop_gained	HIGH	CCDC40	ENSG00000141519	Transcript	ENST00000374877.7	protein_coding	7/18	-	ENST00000374877.7:c.1036G>T	ENSP00000364011.3:p.Glu346Ter	1067	1036	346	E/*	Gag/Tag	-	G	G/T	-	1	-	HGNC	HGNC:26090	-	-	-	-	5	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80050160-80050160	T	stop_gained	HIGH	CCDC40	ENSG00000141519	Transcript	ENST00000397545.9	protein_coding	7/20	-	ENST00000397545.9:c.1036G>T	ENSP00000380679.4:p.Glu346Ter	1057	1036	346	E/*	Gag/Tag	-	G	G/T	-	1	-	HGNC	HGNC:26090	YES	MANE_Select	NM_017950.4	-	5	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80050160-80050160	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	CCDC40	ENSG00000141519	Transcript	ENST00000573474.5	nonsense_mediated_decay	5/5	-	ENST00000573474.5:c.*233G>T	-	490	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:26090	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80050160-80050160	T	non_coding_transcript_exon_variant	MODIFIER	CCDC40	ENSG00000141519	Transcript	ENST00000574799.5	retained_intron	3/16	-	ENST00000574799.5:n.573G>T	-	573	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:26090	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80050160-80050160	T	downstream_gene_variant	MODIFIER	CCDC40	ENSG00000141519	Transcript	ENST00000576241.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2706	1	-	HGNC	HGNC:26090	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80050160-80050160	T	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000289689	Transcript	ENST00000695610.1	lncRNA	-	3/3	ENST00000695610.1:n.984-2641C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80050160-80050160	T	intron_variant,non_coding_transcript_variant	MODIFIER	-	ENSG00000289689	Transcript	ENST00000695611.1	lncRNA	-	2/2	ENST00000695611.1:n.1432-2641C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80050160-80050160	T	stop_gained	HIGH	CCDC40	ENSG00000141519	Transcript	ENST00000897784.1	protein_coding	7/21	-	ENST00000897784.1:c.1036G>T	ENSP00000567843.1:p.Glu346Ter	1048	1036	346	E/*	Gag/Tag	-	G	G/T	-	1	-	HGNC	HGNC:26090	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80086143-80086143	C	missense_variant	MODERATE	CCDC40	ENSG00000141519	Transcript	ENST00000374877.7	protein_coding	14/18	-	ENST00000374877.7:c.2376G>C	ENSP00000364011.3:p.Glu792Asp	2407	2376	792	E/D	gaG/gaC	-	G	G/C	-	1	-	HGNC	HGNC:26090	-	-	-	-	5	A2	-	deleterious(0.03)	benign(0.044)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2713	-	-	-	-
.	17:80086143-80086143	C	missense_variant	MODERATE	CCDC40	ENSG00000141519	Transcript	ENST00000397545.9	protein_coding	14/20	-	ENST00000397545.9:c.2376G>C	ENSP00000380679.4:p.Glu792Asp	2397	2376	792	E/D	gaG/gaC	-	G	G/C	-	1	-	HGNC	HGNC:26090	YES	MANE_Select	NM_017950.4	-	5	P3	-	deleterious(0.03)	benign(0.027)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2713	-	-	-	-
.	17:80086143-80086143	C	non_coding_transcript_exon_variant	MODIFIER	CCDC40	ENSG00000141519	Transcript	ENST00000572253.5	retained_intron	3/6	-	ENST00000572253.5:n.1003G>C	-	1003	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:26090	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80086143-80086143	C	upstream_gene_variant	MODIFIER	CCDC40	ENSG00000141519	Transcript	ENST00000573903.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/C	1962	1	-	HGNC	HGNC:26090	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80086143-80086143	C	non_coding_transcript_exon_variant	MODIFIER	CCDC40	ENSG00000141519	Transcript	ENST00000574799.5	retained_intron	10/16	-	ENST00000574799.5:n.1913G>C	-	1913	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:26090	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80086143-80086143	C	upstream_gene_variant	MODIFIER	CCDC40	ENSG00000141519	Transcript	ENST00000574933.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	1560	1	-	HGNC	HGNC:26090	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80086143-80086143	C	upstream_gene_variant	MODIFIER	CCDC40	ENSG00000141519	Transcript	ENST00000575431.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	1371	1	-	HGNC	HGNC:26090	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80086143-80086143	C	missense_variant	MODERATE	CCDC40	ENSG00000141519	Transcript	ENST00000897784.1	protein_coding	14/21	-	ENST00000897784.1:c.2376G>C	ENSP00000567843.1:p.Glu792Asp	2388	2376	792	E/D	gaG/gaC	-	G	G/C	-	1	-	HGNC	HGNC:26090	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2713	-	-	-	-
.	17:80465292-80465292	T	downstream_gene_variant	MODIFIER	NPTX1	ENSG00000171246	Transcript	ENST00000306773.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1542	-1	-	HGNC	HGNC:7952	YES	MANE_Select	NM_002522.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80465292-80465292	T	downstream_gene_variant	MODIFIER	NPTX1	ENSG00000171246	Transcript	ENST00000535681.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	1856	-1	-	HGNC	HGNC:7952	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80465292-80465292	T	downstream_gene_variant	MODIFIER	NPTX1	ENSG00000171246	Transcript	ENST00000571100.2	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1865	-1	-	HGNC	HGNC:7952	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80465292-80465292	T	non_coding_transcript_exon_variant	MODIFIER	-	ENSG00000279273	Transcript	ENST00000624285.1	TEC	1/1	-	ENST00000624285.1:n.302C>A	-	302	-	-	-	-	-	G	G/T	-	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:80465292-80465292	T	downstream_gene_variant	MODIFIER	NPTX1	ENSG00000171246	Transcript	ENST00000695485.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	1865	-1	-	HGNC	HGNC:7952	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	downstream_gene_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000321280.11	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	737	1	-	HGNC	HGNC:947	-	-	-	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	intron_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000321300.10	protein_coding	-	13/14	ENST00000321300.10:c.1535+1466G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:947	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	downstream_gene_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000416299.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1148	1	-	HGNC	HGNC:947	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	downstream_gene_variant	MODIFIER	AATK	ENSG00000181409	Transcript	ENST00000417379.6	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	512	-1	-	HGNC	HGNC:21	-	-	-	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	intron_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000428708.7	protein_coding	-	13/13	ENST00000428708.7:c.1535+1466G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:947	YES	MANE_Select	NM_001144888.2	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	intron_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000435091.7	protein_coding	-	13/14	ENST00000435091.7:c.1536-939G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:947	-	-	-	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	downstream_gene_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000572329.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	603	1	-	HGNC	HGNC:947	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	intron_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000572498.1	protein_coding	-	5/5	ENST00000572498.1:c.579+1466G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:947	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	intron_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000575245.5	protein_coding	-	14/15	ENST00000575245.5:c.1635-939G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:947	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	downstream_gene_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000575712.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	588	1	-	HGNC	HGNC:947	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	intron_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000575841.5	protein_coding	-	2/2	ENST00000575841.5:c.274-302G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:947	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	intron_variant,non_coding_transcript_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000576225.5	retained_intron	-	9/10	ENST00000576225.5:n.1816-939G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:947	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	downstream_gene_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000576995.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	603	1	-	HGNC	HGNC:947	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	intron_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000892758.1	protein_coding	-	14/14	ENST00000892758.1:c.1634+1466G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:947	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81109975-81109975	T	intron_variant	MODIFIER	BAIAP2	ENSG00000175866	Transcript	ENST00000892759.1	protein_coding	-	13/13	ENST00000892759.1:c.1415+1466G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:947	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000269392.8	protein_coding	-	6/25	ENST00000269392.8:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000374782.7	protein_coding	-	6/24	ENST00000374782.7:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	5	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000450824.7	protein_coding	-	6/25	ENST00000450824.7:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	YES	MANE_Select	NM_014984.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant,non_coding_transcript_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000570482.2	protein_coding_CDS_not_defined	-	2/4	ENST00000570482.2:n.318+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	downstream_gene_variant	MODIFIER	-	ENSG00000262115	Transcript	ENST00000571085.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	3140	1	-	-	-	YES	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000575907.5	protein_coding	-	6/24	ENST00000575907.5:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000908009.1	protein_coding	-	6/24	ENST00000908009.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000908010.1	protein_coding	-	6/24	ENST00000908010.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000908011.1	protein_coding	-	6/25	ENST00000908011.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000908012.1	protein_coding	-	6/25	ENST00000908012.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000908013.1	protein_coding	-	6/23	ENST00000908013.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000908014.1	protein_coding	-	6/24	ENST00000908014.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000908015.1	protein_coding	-	6/25	ENST00000908015.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000908016.1	protein_coding	-	6/25	ENST00000908016.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000908017.1	protein_coding	-	6/25	ENST00000908017.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000936461.1	protein_coding	-	6/25	ENST00000936461.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000936462.1	protein_coding	-	6/25	ENST00000936462.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000936463.1	protein_coding	-	6/25	ENST00000936463.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000936464.1	protein_coding	-	6/25	ENST00000936464.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000936465.1	protein_coding	-	6/25	ENST00000936465.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000971920.1	protein_coding	-	6/25	ENST00000971920.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81203428-81203428	T	intron_variant	MODIFIER	CEP131	ENSG00000141577	Transcript	ENST00000971921.1	protein_coding	-	6/24	ENST00000971921.1:c.629+66C>A	-	-	-	-	-	-	-	G	G/T	-	-1	-	HGNC	HGNC:29511	-	-	-	-	-	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81416825-81416825	T	intron_variant	MODIFIER	BAHCC1	ENSG00000266074	Transcript	ENST00000584436.7	protein_coding	-	2/28	ENST00000584436.7:c.179-9975G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29279	-	-	-	-	5	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81416825-81416825	T	intron_variant	MODIFIER	BAHCC1	ENSG00000266074	Transcript	ENST00000675386.2	protein_coding	-	2/27	ENST00000675386.2:c.179-9975G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29279	YES	MANE_Select	NM_001377448.1	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81416825-81416825	T	downstream_gene_variant	MODIFIER	-	ENSG00000295112	Transcript	ENST00000728140.1	lncRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	791	-1	-	-	-	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81416825-81416825	T	regulatory_region_variant	MODIFIER	-	-	RegulatoryFeature	ENSR17_937BJ4	enhancer	-	-	-	-	-	-	-	-	-	-	G	G/T	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81549288-81549288	T	missense_variant	MODERATE	FAAP100	ENSG00000185504	Transcript	ENST00000327787.13	protein_coding	4/9	-	ENST00000327787.13:c.1321C>A	ENSP00000333283.8:p.Pro441Thr	1344	1321	441	P/T	Cct/Act	COSV108104913	G	G/T	-	-1	-	HGNC	HGNC:26171	YES	MANE_Select	NM_025161.6	-	1	P1	-	tolerated(0.17)	benign(0.021)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.0773	-	-	-	-
.	17:81549288-81549288	T	upstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000425898.2	protein_coding	-	-	-	-	-	-	-	-	-	COSV108104913	G	G/T	790	-1	-	HGNC	HGNC:26171	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81549288-81549288	T	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000443656.6	nonsense_mediated_decay	4/9	-	ENST00000443656.6:c.*1223C>A	-	1563	-	-	-	-	COSV108104913	G	G/T	-	-1	-	HGNC	HGNC:26171	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81549288-81549288	T	downstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000536161.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV108104913	G	G/T	1509	-1	cds_end_NF	HGNC	HGNC:26171	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81549288-81549288	T	missense_variant	MODERATE	FAAP100	ENSG00000185504	Transcript	ENST00000541246.1	protein_coding	3/3	-	ENST00000541246.1:c.868C>A	ENSP00000438149.1:p.Pro290Thr	1067	868	290	P/T	Cct/Act	COSV108104913	G	G/T	-	-1	cds_end_NF	HGNC	HGNC:26171	-	-	-	-	5	-	-	tolerated(0.06)	benign(0.021)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81549288-81549288	T	downstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000544302.1	protein_coding	-	-	-	-	-	-	-	-	-	COSV108104913	G	G/T	1004	-1	cds_end_NF	HGNC	HGNC:26171	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81549288-81549288	T	upstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000545865.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	COSV108104913	G	G/T	2085	-1	cds_start_NF	HGNC	HGNC:26171	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81549288-81549288	T	missense_variant	MODERATE	FAAP100	ENSG00000185504	Transcript	ENST00000899631.1	protein_coding	4/9	-	ENST00000899631.1:c.1321C>A	ENSP00000569690.1:p.Pro441Thr	1399	1321	441	P/T	Cct/Act	COSV108104913	G	G/T	-	-1	-	HGNC	HGNC:26171	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.0773	-	-	-	-
.	17:81549288-81549288	T	missense_variant	MODERATE	FAAP100	ENSG00000185504	Transcript	ENST00000899632.1	protein_coding	3/8	-	ENST00000899632.1:c.1168C>A	ENSP00000569691.1:p.Pro390Thr	1226	1168	390	P/T	Cct/Act	COSV108104913	G	G/T	-	-1	-	HGNC	HGNC:26171	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81549288-81549288	T	missense_variant	MODERATE	FAAP100	ENSG00000185504	Transcript	ENST00000959821.1	protein_coding	4/9	-	ENST00000959821.1:c.1321C>A	ENSP00000629880.1:p.Pro441Thr	1379	1321	441	P/T	Cct/Act	COSV108104913	G	G/T	-	-1	-	HGNC	HGNC:26171	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	likely_benign	0.0773	-	-	-	-
.	17:81549288-81549288	T	missense_variant	MODERATE	FAAP100	ENSG00000185504	Transcript	ENST00000959822.1	protein_coding	3/8	-	ENST00000959822.1:c.1168C>A	ENSP00000629881.1:p.Pro390Thr	1186	1168	390	P/T	Cct/Act	COSV108104913	G	G/T	-	-1	-	HGNC	HGNC:26171	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	upstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000327787.13	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	4879	-1	-	HGNC	HGNC:26171	YES	MANE_Select	NM_025161.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	3_prime_UTR_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000331134.11	protein_coding	17/17	-	ENST00000331134.11:c.*2027C>T	-	4036	-	-	-	-	rs2033668971	G	G/A	-	-1	-	HGNC	HGNC:18261	YES	MANE_Select	NM_017921.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	downstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000374747.9	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	4534	-1	-	HGNC	HGNC:18261	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	upstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000443656.6	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	4856	-1	-	HGNC	HGNC:26171	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	upstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000536161.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	3271	-1	cds_end_NF	HGNC	HGNC:26171	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	upstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000541246.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	4123	-1	cds_end_NF	HGNC	HGNC:26171	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	upstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000544302.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	4105	-1	cds_end_NF	HGNC	HGNC:26171	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	downstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000571714.5	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	1950	-1	cds_start_NF	HGNC	HGNC:18261	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	downstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000572346.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	1832	-1	-	HGNC	HGNC:18261	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	downstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000572760.5	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	1557	-1	-	HGNC	HGNC:18261	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	downstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000572824.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	2036	-1	cds_start_NF	HGNC	HGNC:18261	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	downstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000573212.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	2084	-1	cds_start_NF	HGNC	HGNC:18261	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	downstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000573519.5	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	1859	-1	cds_start_NF	HGNC	HGNC:18261	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	downstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000573876.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	1893	-1	-	HGNC	HGNC:18261	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	downstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000574964.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	1782	-1	-	HGNC	HGNC:18261	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	downstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000576713.6	retained_intron	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	2164	-1	-	HGNC	HGNC:18261	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	3_prime_UTR_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000705719.1	protein_coding	17/17	-	ENST00000705719.1:c.*2027C>T	-	4036	-	-	-	-	rs2033668971	G	G/A	-	-1	-	HGNC	HGNC:18261	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	upstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000899631.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	4824	-1	-	HGNC	HGNC:26171	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	upstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000899632.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	4844	-1	-	HGNC	HGNC:26171	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	upstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000959821.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	4844	-1	-	HGNC	HGNC:26171	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81557232-81557232	A	upstream_gene_variant	MODIFIER	FAAP100	ENSG00000185504	Transcript	ENST00000959822.1	protein_coding	-	-	-	-	-	-	-	-	-	rs2033668971	G	G/A	4884	-1	-	HGNC	HGNC:26171	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81613562-81613562	C	intron_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000331134.11	protein_coding	-	3/16	ENST00000331134.11:c.210-68C>G	-	-	-	-	-	-	-	G	G/C	-	-1	-	HGNC	HGNC:18261	YES	MANE_Select	NM_017921.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81613562-81613562	C	intron_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000374747.9	protein_coding	-	3/15	ENST00000374747.9:c.210-68C>G	-	-	-	-	-	-	-	G	G/C	-	-1	-	HGNC	HGNC:18261	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81613562-81613562	C	intron_variant,non_coding_transcript_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000570300.1	protein_coding_CDS_not_defined	-	3/5	ENST00000570300.1:n.231-68C>G	-	-	-	-	-	-	-	G	G/C	-	-1	-	HGNC	HGNC:18261	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81613562-81613562	C	upstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000570324.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/C	160	-1	cds_start_NF	HGNC	HGNC:18261	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81613562-81613562	C	upstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000571562.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/C	215	-1	-	HGNC	HGNC:18261	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81613562-81613562	C	upstream_gene_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000573328.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	4650	-1	-	HGNC	HGNC:18261	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81613562-81613562	C	intron_variant,non_coding_transcript_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000574344.5	protein_coding_CDS_not_defined	-	1/5	ENST00000574344.5:n.65-68C>G	-	-	-	-	-	-	-	G	G/C	-	-1	-	HGNC	HGNC:18261	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81613562-81613562	C	intron_variant,NMD_transcript_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000574897.5	nonsense_mediated_decay	-	3/14	ENST00000574897.5:c.210-68C>G	-	-	-	-	-	-	-	G	G/C	-	-1	-	HGNC	HGNC:18261	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81613562-81613562	C	intron_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000625705.1	protein_coding	-	3/4	ENST00000625705.1:c.207-68C>G	-	-	-	-	-	-	-	G	G/C	-	-1	-	HGNC	HGNC:18261	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81613562-81613562	C	intron_variant	MODIFIER	NPLOC4	ENSG00000182446	Transcript	ENST00000705719.1	protein_coding	-	3/16	ENST00000705719.1:c.339-68C>G	-	-	-	-	-	-	-	G	G/C	-	-1	-	HGNC	HGNC:18261	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000329138.9	protein_coding	-	7/21	ENST00000329138.9:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	YES	MANE_Select	NM_004712.5	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000571237.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2559	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000571518.6	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	1077	1	cds_start_NF	HGNC	HGNC:4897	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000571647.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4645	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000571885.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4370	1	-	HGNC	HGNC:4897	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000572392.2	protein_coding	-	7/15	ENST00000572392.2:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_end_NF	HGNC	HGNC:4897	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	non_coding_transcript_exon_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000573080.1	retained_intron	1/1	-	ENST00000573080.1:n.106G>T	-	106	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000573949.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	4875	1	-	HGNC	HGNC:4897	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000575058.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	2364	1	-	HGNC	HGNC:4897	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000576087.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	481	1	-	HGNC	HGNC:4897	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000576393.5	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	707	1	-	HGNC	HGNC:4897	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,non_coding_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000576498.5	retained_intron	-	7/7	ENST00000576498.5:n.621-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000577012.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2484	1	cds_end_NF	HGNC	HGNC:4897	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	MIR6786	ENSG00000277784	Transcript	ENST00000616843.1	miRNA	-	-	-	-	-	-	-	-	-	-	G	G/T	2446	1	-	HGNC	HGNC:49970	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000676462.1	protein_coding	-	7/21	ENST00000676462.1:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,NMD_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000676478.1	nonsense_mediated_decay	-	6/20	ENST00000676478.1:c.*47-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,NMD_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000676546.1	nonsense_mediated_decay	-	7/22	ENST00000676546.1:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000676721.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	2484	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000676727.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	2559	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000676729.1	protein_coding	-	8/22	ENST00000676729.1:c.511-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000676879.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2192	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000676898.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1077	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000676963.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2559	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677012.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	4216	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677044.1	protein_coding	-	7/21	ENST00000677044.1:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677109.1	protein_coding	-	7/21	ENST00000677109.1:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677129.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	569	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677132.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2559	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677159.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/T	3438	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677161.1	protein_coding	-	7/20	ENST00000677161.1:c.337-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677209.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4216	1	cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677225.1	protein_coding	-	7/21	ENST00000677225.1:c.490-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677243.1	protein_coding	-	7/21	ENST00000677243.1:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677390.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	2559	1	cds_start_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,non_coding_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677402.1	protein_coding_CDS_not_defined	-	1/1	ENST00000677402.1:n.30-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677463.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	136	1	cds_start_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677472.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	1486	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677484.1	protein_coding	-	7/21	ENST00000677484.1:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677639.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	300	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677725.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	2089	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677805.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	1077	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,NMD_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677818.1	nonsense_mediated_decay	-	2/3	ENST00000677818.1:c.*47-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677872.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	136	1	cds_start_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000677898.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	1577	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,NMD_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678096.1	nonsense_mediated_decay	-	7/21	ENST00000678096.1:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678105.1	protein_coding	-	8/22	ENST00000678105.1:c.337-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,non_coding_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678115.1	retained_intron	-	7/20	ENST00000678115.1:n.642-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678142.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	3853	1	cds_start_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678196.1	protein_coding	-	7/21	ENST00000678196.1:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678218.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	136	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678238.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	1077	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678271.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	1077	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678296.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	1077	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,non_coding_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678313.1	retained_intron	-	1/1	ENST00000678313.1:n.134-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678385.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	1077	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,non_coding_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678387.1	retained_intron	-	7/20	ENST00000678387.1:n.673-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678406.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3504	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678428.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	3853	1	cds_start_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678478.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2343	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678485.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	136	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,non_coding_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678541.1	protein_coding_CDS_not_defined	-	7/18	ENST00000678541.1:n.745+1077G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,non_coding_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678658.1	retained_intron	-	5/19	ENST00000678658.1:n.995-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678680.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2343	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678748.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2192	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678846.1	protein_coding	-	6/13	ENST00000678846.1:c.469-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678866.1	protein_coding	-	7/21	ENST00000678866.1:c.592-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,NMD_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678893.1	nonsense_mediated_decay	-	3/4	ENST00000678893.1:c.*12-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	cds_start_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678907.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	2559	1	cds_start_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678926.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3504	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678944.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	4753	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678979.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	2484	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000678981.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3853	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000679146.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2559	1	cds_start_NF,cds_end_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	upstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000679168.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	136	1	cds_start_NF	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000679170.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/T	4924	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,NMD_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000679191.1	nonsense_mediated_decay	-	7/22	ENST00000679191.1:c.490-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	downstream_gene_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000679235.1	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/T	4216	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant,NMD_transcript_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000679275.1	nonsense_mediated_decay	-	6/17	ENST00000679275.1:c.468+1077G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000679336.1	protein_coding	-	7/20	ENST00000679336.1:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000876888.1	protein_coding	-	7/17	ENST00000876888.1:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000876889.1	protein_coding	-	7/21	ENST00000876889.1:c.538-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000928319.1	protein_coding	-	7/21	ENST00000928319.1:c.490-136G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000928320.1	protein_coding	-	2/15	ENST00000928320.1:c.123-2192G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81691311-81691311	T	intron_variant	MODIFIER	HGS	ENSG00000185359	Transcript	ENST00000961234.1	protein_coding	-	7/21	ENST00000961234.1:c.538-160G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:4897	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000331285.7	protein_coding	-	8/12	ENST00000331285.7:c.526-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	2	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	downstream_gene_variant	MODIFIER	NPB	ENSG00000183979	Transcript	ENST00000333383.8	protein_coding	-	-	-	-	-	-	-	-	-	rs143269211	G	G/A	3302	1	-	HGNC	HGNC:30099	YES	MANE_Select	NM_148896.5	-	1	P1	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000538721.6	protein_coding	-	9/13	ENST00000538721.6:c.814-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	1	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000538936.7	protein_coding	-	8/12	ENST00000538936.7:c.760-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	YES	MANE_Select	NM_002861.5	-	1	P3	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000570388.5	protein_coding	-	8/12	ENST00000570388.5:c.526-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	2	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000570391.5	protein_coding	-	8/12	ENST00000570391.5:c.664-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	2	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000571105.5	protein_coding	-	8/11	ENST00000571105.5:c.760-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	5	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant,non_coding_transcript_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000571581.5	retained_intron	-	7/7	ENST00000571581.5:n.967-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	5	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	non_coding_transcript_exon_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000571944.1	retained_intron	1/2	-	ENST00000571944.1:n.42C>T	-	42	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	3	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	downstream_gene_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000572157.1	protein_coding	-	-	-	-	-	-	-	-	-	rs143269211	G	G/A	2712	-1	cds_end_NF	HGNC	HGNC:8756	-	-	-	-	4	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	downstream_gene_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000572473.1	protein_coding	-	-	-	-	-	-	-	-	-	rs143269211	G	G/A	2671	-1	cds_end_NF	HGNC	HGNC:8756	-	-	-	-	5	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	upstream_gene_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000572924.2	retained_intron	-	-	-	-	-	-	-	-	-	rs143269211	G	G/A	30	-1	-	HGNC	HGNC:8756	-	-	-	-	2	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000572995.5	protein_coding	-	4/7	ENST00000572995.5:c.289+257C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	cds_start_NF	HGNC	HGNC:8756	-	-	-	-	3	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	downstream_gene_variant	MODIFIER	NPB	ENSG00000183979	Transcript	ENST00000573081.1	protein_coding	-	-	-	-	-	-	-	-	-	rs143269211	G	G/A	3309	1	-	HGNC	HGNC:30099	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant,NMD_transcript_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000573401.6	nonsense_mediated_decay	-	10/10	ENST00000573401.6:c.*794-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	5	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000573636.6	protein_coding	-	7/8	ENST00000573636.6:c.715-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	cds_end_NF	HGNC	HGNC:8756	-	-	-	-	5	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	downstream_gene_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000573927.5	protein_coding	-	-	-	-	-	-	-	-	-	rs143269211	G	G/A	1579	-1	cds_end_NF	HGNC	HGNC:8756	-	-	-	-	3	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	non_coding_transcript_exon_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000574155.1	retained_intron	2/3	-	ENST00000574155.1:n.410C>T	-	410	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	4	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	upstream_gene_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000574343.5	retained_intron	-	-	-	-	-	-	-	-	-	rs143269211	G	G/A	531	-1	-	HGNC	HGNC:8756	-	-	-	-	2	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000576343.5	protein_coding	-	7/11	ENST00000576343.5:c.598-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	cds_end_NF	HGNC	HGNC:8756	-	-	-	-	5	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883679.1	protein_coding	-	9/12	ENST00000883679.1:c.814-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883680.1	protein_coding	-	8/12	ENST00000883680.1:c.652-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883681.1	protein_coding	-	9/13	ENST00000883681.1:c.796-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883682.1	protein_coding	-	8/12	ENST00000883682.1:c.742-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883683.1	protein_coding	-	8/10	ENST00000883683.1:c.759+257C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883684.1	protein_coding	-	8/12	ENST00000883684.1:c.808-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883685.1	protein_coding	-	9/12	ENST00000883685.1:c.813+257C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883686.1	protein_coding	-	8/11	ENST00000883686.1:c.760-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883687.1	protein_coding	-	8/12	ENST00000883687.1:c.757-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883688.1	protein_coding	-	8/10	ENST00000883688.1:c.760-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883689.1	protein_coding	-	8/12	ENST00000883689.1:c.760-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883690.1	protein_coding	-	10/14	ENST00000883690.1:c.916-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	missense_variant	MODERATE	PCYT2	ENSG00000185813	Transcript	ENST00000883691.1	protein_coding	9/12	-	ENST00000883691.1:c.796C>T	ENSP00000553750.1:p.Arg266Trp	840	796	266	R/W	Cgg/Tgg	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883692.1	protein_coding	-	9/13	ENST00000883692.1:c.793-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883693.1	protein_coding	-	9/12	ENST00000883693.1:c.814-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883694.1	protein_coding	-	9/13	ENST00000883694.1:c.814-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883695.1	protein_coding	-	9/13	ENST00000883695.1:c.811-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883696.1	protein_coding	-	8/12	ENST00000883696.1:c.760-33C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	A1	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000883697.1	protein_coding	-	9/13	ENST00000883697.1:c.802-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000938179.1	protein_coding	-	7/10	ENST00000938179.1:c.598-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	intron_variant	MODIFIER	PCYT2	ENSG00000185813	Transcript	ENST00000956686.1	protein_coding	-	8/12	ENST00000956686.1:c.760-30C>T	-	-	-	-	-	-	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	A1	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	missense_variant	MODERATE	PCYT2	ENSG00000185813	Transcript	ENST00000956687.1	protein_coding	9/13	-	ENST00000956687.1:c.796C>T	ENSP00000626746.1:p.Arg266Trp	871	796	266	R/W	Cgg/Tgg	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	missense_variant	MODERATE	PCYT2	ENSG00000185813	Transcript	ENST00000956688.1	protein_coding	10/14	-	ENST00000956688.1:c.850C>T	ENSP00000626747.1:p.Arg284Trp	896	850	284	R/W	Cgg/Tgg	rs143269211	G	G/A	-	-1	-	HGNC	HGNC:8756	-	-	-	-	-	-	-	-	-	-	0.002336	0.07835	0.003873	0.00392	0.0003346	0	0.003891	0.0001244	0.005607	0.0003522	0.02139	0.07435	0	0.006342	0.002304	0.0007716	0	0	0.0003382	0.01657	0.0004143	benign	-	1	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000306796.10	protein_coding	-	12/13	ENST00000306796.10:c.1207-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	YES	MANE_Select	NM_022156.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000306823.10	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000320548.8	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000354321.11	protein_coding	-	11/12	ENST00000354321.11:c.1207-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000392357.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000392358.6	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000538833.6	protein_coding	-	8/9	ENST00000538833.6:c.810-83G>T	-	-	-	-	-	-	-	C	C/A	-	-1	cds_start_NF	HGNC	HGNC:30086	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	missense_variant	MODERATE	DUS1L	ENSG00000169718	Transcript	ENST00000542088.2	protein_coding	3/4	-	ENST00000542088.2:c.551G>T	ENSP00000438718.2:p.Gly184Val	549	551	184	G/V	gGg/gTg	-	C	C/A	-	-1	cds_start_NF	HGNC	HGNC:30086	-	-	-	-	3	-	-	-	unknown(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000577574.5	protein_coding	-	2/3	ENST00000577574.5:c.186-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	cds_start_NF	HGNC	HGNC:30086	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000577907.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	4391	-1	cds_end_NF	HGNC	HGNC:30086	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000578168.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	cds_start_NF	HGNC	HGNC:4549	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000578176.5	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2767	-1	cds_end_NF	HGNC	HGNC:30086	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000578264.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	2210	-1	-	HGNC	HGNC:30086	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000578279.2	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1043	1	-	HGNC	HGNC:4549	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000578392.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	C	C/A	3949	1	-	HGNC	HGNC:4549	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	non_coding_transcript_exon_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000578428.1	retained_intron	2/2	-	ENST00000578428.1:n.684G>T	-	684	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000578552.6	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	YES	MANE_Select	NM_001321092.3	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000578642.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	4706	1	-	HGNC	HGNC:4549	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	non_coding_transcript_exon_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000578846.5	retained_intron	3/4	-	ENST00000578846.5:n.3931G>T	-	3931	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000578907.5	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2718	-1	cds_end_NF	HGNC	HGNC:30086	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant,non_coding_transcript_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000579854.5	retained_intron	-	2/3	ENST00000579854.5:n.232-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000580141.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	C	C/A	2472	1	-	HGNC	HGNC:4549	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000580627.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	C	C/A	3809	1	-	HGNC	HGNC:4549	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000580716.5	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	3750	1	cds_end_NF	HGNC	HGNC:4549	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000580723.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	C	C/A	3753	1	-	HGNC	HGNC:4549	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant,NMD_transcript_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000580731.1	nonsense_mediated_decay	-	6/6	ENST00000580731.1:c.*75-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	cds_start_NF	HGNC	HGNC:30086	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000581418.5	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	3823	1	cds_end_NF	HGNC	HGNC:4549	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000581578.5	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	3949	1	cds_end_NF	HGNC	HGNC:4549	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000582327.5	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	3840	1	cds_end_NF	HGNC	HGNC:4549	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000582407.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/A	1667	-1	-	HGNC	HGNC:30086	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000582529.5	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2386	-1	cds_end_NF	HGNC	HGNC:30086	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000583009.4	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	3922	1	cds_end_NF	HGNC	HGNC:4549	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000583486.2	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000583641.5	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	3734	1	cds_end_NF	HGNC	HGNC:4549	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000583885.5	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	3932	1	cds_end_NF	HGNC	HGNC:4549	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000583961.5	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	3905	1	cds_end_NF	HGNC	HGNC:4549	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000584460.5	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	C	C/A	1028	1	-	HGNC	HGNC:4549	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant,non_coding_transcript_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000584871.5	retained_intron	-	1/2	ENST00000584871.5:n.362-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000585084.5	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	3523	1	cds_end_NF	HGNC	HGNC:4549	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000623691.3	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000623761.3	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1067	1	-	HGNC	HGNC:4549	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000624957.3	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1051	1	-	HGNC	HGNC:4549	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000706669.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000706670.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000909424.1	protein_coding	-	12/13	ENST00000909424.1:c.1183-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000909425.1	protein_coding	-	12/13	ENST00000909425.1:c.1174-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000909426.1	protein_coding	-	12/13	ENST00000909426.1:c.1207-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909667.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	434	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909668.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909669.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1022	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909670.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909671.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909672.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909673.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909674.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909675.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909676.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909677.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909678.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1022	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909679.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1022	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000909680.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000939658.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000939659.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000939660.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000939661.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000939662.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000939663.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1023	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000939664.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000939665.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000950985.1	protein_coding	-	12/13	ENST00000950985.1:c.1207-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000950986.1	protein_coding	-	12/13	ENST00000950986.1:c.1207-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000950987.1	protein_coding	-	11/12	ENST00000950987.1:c.1123-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000950988.1	protein_coding	-	11/12	ENST00000950988.1:c.1075-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000950989.1	protein_coding	-	12/13	ENST00000950989.1:c.1114-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	intron_variant	MODIFIER	DUS1L	ENSG00000169718	Transcript	ENST00000950990.1	protein_coding	-	12/13	ENST00000950990.1:c.1207-75G>T	-	-	-	-	-	-	-	C	C/A	-	-1	-	HGNC	HGNC:30086	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000953769.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000953770.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1020	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000953771.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000953772.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000953773.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000953774.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1021	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000953775.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1023	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82058491-82058491	A	downstream_gene_variant	MODIFIER	GPS1	ENSG00000169727	Transcript	ENST00000953776.1	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	1022	1	-	HGNC	HGNC:4549	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	CSNK1D	ENSG00000141551	Transcript	ENST00000314028.11	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	3544	-1	-	HGNC	HGNC:2452	YES	MANE_Select	NM_001893.6	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	CSNK1D	ENSG00000141551	Transcript	ENST00000392334.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	3544	-1	-	HGNC	HGNC:2452	-	-	-	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000392339.6	protein_coding	5/5	-	ENST00000392339.6:c.*147G>C	-	1699	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000392341.6	protein_coding	5/5	-	ENST00000392341.6:c.*147G>C	-	1696	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	CSNK1D	ENSG00000141551	Transcript	ENST00000398519.9	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	604	-1	-	HGNC	HGNC:2452	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000577650.6	protein_coding	6/6	-	ENST00000577650.6:c.*147G>C	-	1540	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000578574.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	2228	1	-	HGNC	HGNC:10924	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000578684.6	protein_coding	4/4	-	ENST00000578684.6:c.*147G>C	-	1476	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000578810.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	1707	1	-	HGNC	HGNC:10924	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000579572.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	1820	1	-	HGNC	HGNC:10924	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000580098.6	protein_coding	5/5	-	ENST00000580098.6:c.*203G>C	-	1713	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000580189.6	protein_coding	5/5	-	ENST00000580189.6:c.*147G>C	-	1748	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	CSNK1D	ENSG00000141551	Transcript	ENST00000581241.6	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	G	G/C	3550	-1	-	HGNC	HGNC:2452	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000581287.5	protein_coding	4/4	-	ENST00000581287.5:c.*147G>C	-	3867	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000581642.1	retained_intron	-	-	-	-	-	-	-	-	-	-	G	G/C	2666	1	-	HGNC	HGNC:10924	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	intron_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000582715.1	protein_coding	-	2/2	ENST00000582715.1:c.121-240G>C	-	-	-	-	-	-	-	G	G/C	-	1	cds_end_NF	HGNC	HGNC:10924	-	-	-	-	5	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000582743.6	protein_coding	5/5	-	ENST00000582743.6:c.*147G>C	-	1636	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	YES	MANE_Select	NM_004207.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	intron_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000583025.1	protein_coding	-	1/1	ENST00000583025.1:c.724+1230G>C	-	-	-	-	-	-	-	G	G/C	-	1	cds_start_NF	HGNC	HGNC:10924	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant,NMD_transcript_variant	MODIFIER	CSNK1D	ENSG00000141551	Transcript	ENST00000584672.1	nonsense_mediated_decay	3/3	-	ENST00000584672.1:c.*108C>G	-	301	-	-	-	-	-	G	G/C	-	-1	cds_start_NF	HGNC	HGNC:2452	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000584689.6	protein_coding	5/5	-	ENST00000584689.6:c.*147G>C	-	1704	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	2	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000584781.5	protein_coding_CDS_not_defined	-	-	-	-	-	-	-	-	-	-	G	G/C	1841	1	-	HGNC	HGNC:10924	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	MIR6787	ENSG00000284574	Transcript	ENST00000616675.1	miRNA	-	-	-	-	-	-	-	-	-	-	G	G/C	2395	1	-	HGNC	HGNC:50209	YES	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000617373.5	protein_coding	5/5	-	ENST00000617373.5:c.*147G>C	-	1673	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000619321.2	protein_coding	5/5	-	ENST00000619321.2:c.*147G>C	-	1640	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	CSNK1D	ENSG00000141551	Transcript	ENST00000865418.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	3531	-1	-	HGNC	HGNC:2452	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	CSNK1D	ENSG00000141551	Transcript	ENST00000865419.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	3551	-1	-	HGNC	HGNC:2452	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	downstream_gene_variant	MODIFIER	CSNK1D	ENSG00000141551	Transcript	ENST00000865420.1	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/C	3551	-1	-	HGNC	HGNC:2452	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000877806.1	protein_coding	5/5	-	ENST00000877806.1:c.*147G>C	-	1878	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000877807.1	protein_coding	5/5	-	ENST00000877807.1:c.*147G>C	-	1769	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000877808.1	protein_coding	6/6	-	ENST00000877808.1:c.*147G>C	-	1959	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000877809.1	protein_coding	6/6	-	ENST00000877809.1:c.*147G>C	-	1847	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000877810.1	protein_coding	5/5	-	ENST00000877810.1:c.*147G>C	-	2248	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000877811.1	protein_coding	5/5	-	ENST00000877811.1:c.*147G>C	-	1698	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000877812.1	protein_coding	5/5	-	ENST00000877812.1:c.*147G>C	-	3153	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82239123-82239123	C	3_prime_UTR_variant	MODIFIER	SLC16A3	ENSG00000141526	Transcript	ENST00000948113.1	protein_coding	6/6	-	ENST00000948113.1:c.*147G>C	-	1987	-	-	-	-	-	G	G/C	-	1	-	HGNC	HGNC:10924	-	-	-	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82316017-82316017	T	intron_variant	MODIFIER	CD7	ENSG00000173762	Transcript	ENST00000312648.8	protein_coding	-	3/3	ENST00000312648.8:c.612+178G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:1695	YES	MANE_Select	NM_006137.7	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82316017-82316017	T	3_prime_UTR_variant	MODIFIER	CD7	ENSG00000173762	Transcript	ENST00000578509.1	protein_coding	3/3	-	ENST00000578509.1:c.*124G>A	-	883	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:1695	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82316017-82316017	T	downstream_gene_variant	MODIFIER	CD7	ENSG00000173762	Transcript	ENST00000581434.1	nonsense_mediated_decay	-	-	-	-	-	-	-	-	-	-	C	C/T	203	-1	-	HGNC	HGNC:1695	-	-	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82316017-82316017	T	downstream_gene_variant	MODIFIER	CD7	ENSG00000173762	Transcript	ENST00000581744.1	retained_intron	-	-	-	-	-	-	-	-	-	-	C	C/T	115	-1	-	HGNC	HGNC:1695	-	-	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82316017-82316017	T	intron_variant,NMD_transcript_variant	MODIFIER	CD7	ENSG00000173762	Transcript	ENST00000582480.2	nonsense_mediated_decay	-	3/3	ENST00000582480.2:c.*124+178G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:1695	-	-	-	-	4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82316017-82316017	T	intron_variant	MODIFIER	CD7	ENSG00000173762	Transcript	ENST00000583376.1	protein_coding	-	2/2	ENST00000583376.1:c.312+178G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:1695	-	-	-	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82316017-82316017	T	3_prime_UTR_variant	MODIFIER	CD7	ENSG00000173762	Transcript	ENST00000584284.6	protein_coding	3/3	-	ENST00000584284.6:c.*124G>A	-	872	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:1695	-	-	-	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:82316017-82316017	T	intron_variant,NMD_transcript_variant	MODIFIER	CD7	ENSG00000173762	Transcript	ENST00000850579.1	nonsense_mediated_decay	-	3/4	ENST00000850579.1:c.612+178G>A	-	-	-	-	-	-	-	C	C/T	-	-1	-	HGNC	HGNC:1695	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-