#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	MANE	MANE_SELECT	MANE_PLUS_CLINICAL	TSL	APPRIS	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	PUBMED	MOTIF_NAME	MOTIF_POS	HIGH_INF_POS	MOTIF_SCORE_CHANGE	TRANSCRIPTION_FACTORS	am_class	am_pathogenicity
.	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	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	-	-	-	-	-	-	-	-	-	-	-
.	17:1776540-1776540	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000305513.12	protein_coding	-	-	-	-	-	-	-	-	-	COSV99628670	G	G/T	2945	-1	-	HGNC	HGNC:21067	MANE_Select	NM_052928.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-
.	17:1776620-1776620	T	downstream_gene_variant	MODIFIER	SMYD4	ENSG00000186532	Transcript	ENST00000305513.12	protein_coding	-	-	-	-	-	-	-	-	-	COSV54618161	G	G/T	2865	-1	-	HGNC	HGNC:21067	MANE_Select	NM_052928.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_017575.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_014853.3	-	1	P4	-	-	-	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	MANE_Select	NM_014853.3	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001366661.1	-	-	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	-	-	-	-	-	-	-	-	-	-	-
.	17:2991580-2991580	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	MANE_Select	NM_015085.5	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	MANE_Select	NM_013276.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001330063.2	-	5	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_014520.4	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_014520.4	-	1	P4	deleterious(0.01)	probably_damaging(0.993)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.8075
.	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	MANE_Select	NM_002663.5	-	1	P3	-	-	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_153827.5	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_153827.5	-	1	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	MANE_Select	NM_006612.6	-	1	P3	deleterious_low_confidence(0.02)	benign(0.081)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0951
.	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	MANE_Select	NM_002532.6	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_014804.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_177550.5	-	1	P1	tolerated_low_confidence(0.41)	benign(0.009)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.1144
.	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	MANE_Select	NM_001201352.2	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001201352.2	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_000747.3	-	1	P1	deleterious(0)	possibly_damaging(0.9)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.5644
.	17:7560755-7560755	A	upstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000321337.12	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/A	1164	1	-	HGNC	HGNC:17862	MANE_Select	NM_015670.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:7573047-7573047	T	downstream_gene_variant	MODIFIER	SENP3	ENSG00000161956	Transcript	ENST00000321337.12	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1078	1	-	HGNC	HGNC:17862	MANE_Select	NM_015670.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_006942.2	-	1	P1	tolerated_low_confidence(0.12)	benign(0.036)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	likely_benign	0.0814
.	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	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	26900293,34239995,25157968,21264207,34203389,21305319,32000721,25105660,16489069,17606709,18511570,23161690,33076847,24929325,21761402,16401470,8649785,9047394,11101847,15977174,18391940,19881536,20128691,20689556,21343334,22233476,22698404,23792586,24573247,36531003,31907277,31371350,34964846,33174010,35328276,32467344,36077746,28163917,34771529,35867400,23639312,25404506,37304756,36866106,34514028,30709875,30816478,12619118,37435187,38459566,38310289,38156855,39457600,39488539	-	-	-	-	-	likely_pathogenic	0.9857
.	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	MANE_Select	NM_020877.5	-	2	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_053051.5	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_025099.6	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_025099.6	-	-	P1	tolerated(0.35)	probably_damaging(0.98)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	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	MANE_Select	NM_012393.3	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_173728.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	-	-	-	-	-	-	-	-
.	17:9221364-9221364	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	MANE_Select	NM_004822.3	-	1	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	MANE_Select	NM_004246.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_201433.2	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_002472.3	-	5	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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
.	17:10647440-10647440	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	MANE_Select	NM_002470.4	-	5	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	MANE_Select	NM_001372.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001372.4	-	1	P1	tolerated_low_confidence(0.18)	benign(0.005)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	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	ENST00000379672.10	protein_coding	-	2/20	ENST00000379672.10:c.93+146G>T	-	-	-	-	-	-	-	G	G/T	-	1	-	HGNC	HGNC:29096	MANE_Select	NM_014859.6	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16617165-16617166	-	downstream_gene_variant	MODIFIER	ZNF624	ENSG00000197566	Transcript	ENST00000311331.12	protein_coding	-	-	-	-	-	-	-	-	-	-	T	CT/C	3568	-1	-	HGNC	HGNC:29254	MANE_Select	NM_020787.4	-	2	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:16841800-16841800	A	downstream_gene_variant	MODIFIER	-	ENSG00000291277	Transcript	ENST00000580363.1	lncRNA	-	-	-	-	-	-	-	-	-	rs2656382	T	T/A	2065	-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	-	-	-	-	-	-	-	-	-	-	-
.	17:17267700-17267700	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	MANE_Select	NM_003653.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	-	-	-	-	-	-	-	-	-	-	-
.	17:17817921-17817921	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	MANE_Select	NM_004176.5	-	1	P4	-	-	-	1.381e-06	0	0	0	5.038e-05	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_016239.4	-	-	P1	-	-	-	0	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0,1,1	1,1,1	-	-	-	-	-	-	-	-
.	17:18124653-18124683	-	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	MANE_Select	NM_016239.4	-	-	P1	-	-	3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	25741868	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001042450.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001042450.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_014964.5	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001099646.3	-	5	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001099646.3	-	5	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_000638.4	-	1	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	MANE_Select	NM_003984.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	6.572e-06	2.414e-05	0	0	0	0	0	0	0	0	0	-	-	-	-	-	-	-	-	-	-	-
.	17:28718299-28718299	T	upstream_gene_variant	MODIFIER	RAB34	ENSG00000109113	Transcript	ENST00000395245.9	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	431	-1	-	HGNC	HGNC:16519	MANE_Select	NM_031934.6	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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
.	17:28981785-28981785	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	MANE_Select	NM_178860.5	-	1	A2	tolerated(0.07)	benign(0.076)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.07
.	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	MANE_Select	NM_078471.4	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_078471.4	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_078471.4	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_078471.4	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	-	-	-	-	-	-	-	-	-	-	-
.	17:29286060-29286060	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	MANE_Select	NM_020772.3	-	1	P1	deleterious(0.03)	benign(0.412)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	likely_benign	0.1885
.	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	MANE_Select	NM_032141.4	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_206832.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_018404.3	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001042492.3	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_032932.6	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_002815.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_006584.4	-	1	P1	deleterious_low_confidence(0)	probably_damaging(0.986)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.9845
.	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	MANE_Select	NM_018096.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001267052.2	-	1	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	MANE_Select	NM_144975.4	-	1	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	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	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:38957391-38957391	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	MANE_Select	NM_001008777.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_020405.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_198993.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	-	-	-	-	-	-	-	-	-	-	-
.	17:39943323-39943323	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	MANE_Select	NM_001195545.2	-	3	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:40019511-40019511	T	downstream_gene_variant	MODIFIER	CSF3	ENSG00000108342	Transcript	ENST00000394149.8	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1698	1	-	HGNC	HGNC:2438	MANE_Select	NM_172219.3	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_016339.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001254.4	-	1	P4	deleterious(0)	possibly_damaging(0.749)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	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	MANE_Select	NM_001067.4	-	1	P1	deleterious_low_confidence(0)	possibly_damaging(0.748)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	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	MANE_Select	NM_002275.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_000226.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_000422.3	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_005801.4	-	1	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	MANE_Select	NM_002230.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_003315.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42110744-42110744	T	downstream_gene_variant	MODIFIER	KAT2A	ENSG00000108773	Transcript	ENST00000225916.10	protein_coding	-	-	-	-	-	-	-	-	-	COSV99288154	C	C/T	2367	-1	-	HGNC	HGNC:4201	MANE_Select	NM_021078.3	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-
.	17:42569033-42569033	T	downstream_gene_variant	MODIFIER	COASY	ENSG00000068120	Transcript	ENST00000393818.3	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2756	1	-	HGNC	HGNC:29932	MANE_Select	NM_025233.7	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42582064-42582064	T	upstream_gene_variant	MODIFIER	PSMC3IP	ENSG00000131470	Transcript	ENST00000393795.8	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4335	-1	-	HGNC	HGNC:17928	MANE_Select	NM_016556.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:42609399-42609399	C	upstream_gene_variant	MODIFIER	RETREG3	ENSG00000141699	Transcript	ENST00000309428.10	protein_coding	-	-	-	-	-	-	-	-	-	-	T	T/C	25	-1	-	HGNC	HGNC:27258	MANE_Select	NM_178126.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_009590.4	-	1	P1	tolerated(0.16)	possibly_damaging(0.781)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.169
.	17:42981257-42981257	T	upstream_gene_variant	MODIFIER	PTGES3L	ENSG00000267060	Transcript	ENST00000591916.7	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	1177	-1	-	HGNC	HGNC:43943	MANE_Select	NM_001261430.2	-	3	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_006373.4	-	1	P2	deleterious(0)	benign(0.043)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6867
.	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	MANE_Select	NM_007294.4	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	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	MANE_Select	NM_001661.4	-	1	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	MANE_Select	NM_004941.3	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001932.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	-	-	-	-	-	-	-	-
.	17:44666462-44666462	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	MANE_Select	NM_001145080.3	-	5	A2	deleterious(0)	probably_damaging(0.984)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.2621
.	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	MANE_Select	NM_145663.3	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	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	MANE_Select	NM_002390.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44850901-44850901	T	downstream_gene_variant	MODIFIER	HIGD1B	ENSG00000131097	Transcript	ENST00000253410.3	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	425	1	-	HGNC	HGNC:24318	MANE_Select	NM_016438.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_004247.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:44908195-44908195	T	downstream_gene_variant	MODIFIER	FAM187A	ENSG00000214447	Transcript	ENST00000331733.5	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	2805	1	-	HGNC	HGNC:35153	MANE_Select	NM_001258400.2	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001265577.2	-	5	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	MANE_Select	NM_021079.5	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_133373.5	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	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	MANE_Select	NM_006460.3	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_004287.5	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_152347.5	-	1	A2	deleterious(0)	probably_damaging(0.992)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	likely_benign	0.2597
.	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	MANE_Select	NM_001394755.1	-	3	P3	tolerated(0.1)	unknown(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0952
.	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	MANE_Select	NM_033413.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001258248.2	-	2	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_003204.3	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001127228.2	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_030802.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_018509.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_018896.5	-	1	A2	deleterious_low_confidence(0.02)	benign(0)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	likely_benign	0.1179
.	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	MANE_Select	NM_018896.5	-	1	A2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_003786.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001130528.3	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001130528.3	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_032559.5	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_018286.3	-	1	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	MANE_Select	NM_021626.3	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_138962.4	-	1	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	MANE_Select	NM_001386095.1	-	-	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	MANE_Select	NM_006151.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1,1	1,1	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_031272.5	-	5	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	MANE_Select	NM_058216.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_015294.6	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_018304.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:59210621-59210621	T	downstream_gene_variant	MODIFIER	PRR11	ENSG00000068489	Transcript	ENST00000262293.9	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	3912	1	-	HGNC	HGNC:25619	MANE_Select	NM_018304.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001351695.2	-	2	P1	tolerated(0.11)	benign(0.06)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_006039.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	-	-	-	-	-	-	-	-	-	-	-
.	17:63754361-63754361	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	MANE_Select	NM_020198.3	-	1	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	MANE_Select	NM_022739.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_006572.6	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	-	-	-	-	-	-	-	-	-	-	-
.	17:67718267-67718267	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	MANE_Select	NM_015462.5	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_182641.4	-	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	-	-	-	-	-	-	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	-	-	-	-	-	-	-	-	-	-	-
.	17:68529082-68529082	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	MANE_Select	NM_002734.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_017565.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_018714.3	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_023036.6	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_139018.5	-	1	-	deleterious(0)	possibly_damaging(0.796)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_benign	0.0774
.	17:74771706-74771706	A	downstream_gene_variant	MODIFIER	NHERF1	ENSG00000109062	Transcript	ENST00000262613.10	protein_coding	-	-	-	-	-	-	-	-	-	rs779259903	G	G/A	2353	1	-	HGNC	HGNC:11075	MANE_Select	NM_004252.5	-	1	P3	-	-	-	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	MANE_Select	NM_017728.4	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	-	-	-	-	-	-	-	-
.	17:75005208-75005208	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	MANE_Select	NM_014603.3	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	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	MANE_Select	NM_024844.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75261609-75261609	T	downstream_gene_variant	MODIFIER	MIF4GD	ENSG00000125457	Transcript	ENST00000325102.13	protein_coding	-	-	-	-	-	-	-	-	-	-	G	G/T	4619	-1	-	HGNC	HGNC:24030	MANE_Select	NM_001370592.1	-	2	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:75497887-75497887	A	downstream_gene_variant	MODIFIER	CASKIN2	ENSG00000177303	Transcript	ENST00000321617.8	protein_coding	-	-	-	-	-	-	-	-	-	-	C	C/A	2374	-1	-	HGNC	HGNC:18200	MANE_Select	NM_020753.5	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001395058.1	-	-	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_180990.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_052916.3	-	1	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	-	-	-	-	-	-	-	-
.	17:76680930-76680930	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	MANE_Select	NM_198530.4	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001113491.2	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001142640.2	-	-	P4	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	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	-	-	-	-	-	-	-	-	-	-	-
.	17:78484883-78484883	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	MANE_Select	NM_173628.4	-	5	P1	deleterious_low_confidence(0)	benign(0.377)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.6587
.	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	MANE_Select	NM_030968.5	-	1	P1	deleterious(0)	probably_damaging(0.997)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	likely_pathogenic	0.679
.	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	MANE_Select	NM_001350451.2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_019020.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_017950.4	-	5	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_017950.4	-	5	P3	deleterious(0.03)	benign(0.027)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	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	MANE_Select	NM_002522.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001144888.2	-	1	A1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_014984.4	-	1	P3	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_001377448.1	-	-	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_025161.6	-	1	P1	tolerated(0.17)	benign(0.021)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	-	-	-	-	-	-	likely_benign	0.0773
.	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	MANE_Select	NM_017921.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_017921.4	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_004712.5	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	17:81906207-81906207	A	downstream_gene_variant	MODIFIER	NPB	ENSG00000183979	Transcript	ENST00000333383.8	protein_coding	-	-	-	-	-	-	-	-	-	rs143269211	G	G/A	3302	1	-	HGNC	HGNC:30099	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	-	-	-	-	-	-	-	-
.	17:82058491-82058491	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	MANE_Select	NM_022156.5	-	1	P1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
.	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	MANE_Select	NM_004207.4	-	1	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	MANE_Select	NM_006137.7	-	1	P2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-