#Uploaded_variation	Location	Allele	Gene	Feature	Feature_type	Consequence	cDNA_position	CDS_position	Protein_position	Amino_acids	Codons	Existing_variation	IMPACT	DISTANCE	STRAND	FLAGS	VARIANT_CLASS	SYMBOL	SYMBOL_SOURCE	HGNC_ID	BIOTYPE	CANONICAL	TSL	APPRIS	CCDS	ENSP	SWISSPROT	TREMBL	UNIPARC	GENE_PHENO	SIFT	PolyPhen	EXON	INTRON	DOMAINS	AF	AFR_AF	AMR_AF	EAS_AF	EUR_AF	SAS_AF	AA_AF	EA_AF	gnomAD_AF	gnomAD_AFR_AF	gnomAD_AMR_AF	gnomAD_ASJ_AF	gnomAD_EAS_AF	gnomAD_FIN_AF	gnomAD_NFE_AF	gnomAD_OTH_AF	gnomAD_SAS_AF	MAX_AF	MAX_AF_POPS	CLIN_SIG	SOMATIC	PHENO	PUBMED	MOTIF_NAME	MOTIF_POS	HIGH_INF_POS	MOTIF_SCORE_CHANGE	rc_ref_normal	rc_alt_normal	af_normal	cov_normal	rc_ref_tumor	rc_alt_tumor	af_tumor	cov_tumor
rs756730924	3:38092923	G	ENSG00000008226	ENST00000308059	Transcript	intron_variant	NA	NA	NA	NA	NA	rs756730924	MODIFIER	NA	1	NA	SNV	DLEC1	HGNC	HGNC:2899	protein_coding	YES	1	P2	CCDS2672.2	ENSP00000308597	Q9Y238	NA	UPI00006EB134	1	NA	NA	NA	11/36	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.0001065	0.000396	2.985e-05	0.0002039	5.827e-05	0	0.000145	0	0	0.000396	gnomAD_AFR	NA	NA	NA	NA	NA	NA	NA	NA	49	1	0.02	50	30	1	0.032258	31
.	15:25708280	T	ENSG00000206190	ENST00000356865	Transcript	missense_variant	2477	2365	789	Q/K	Caa/Aaa	NA	MODERATE	NA	-1	NA	SNV	ATP10A	HGNC	HGNC:13542	protein_coding	YES	1	P1	CCDS32178.1	ENSP00000349325	O60312	NA	UPI0000124FAB	1	tolerated(0.34)	benign(0.066)	11/21	NA	Gene3D:3.40.1110.10,hmmpanther:PTHR24092,hmmpanther:PTHR24092:SF81,Superfamily_domains:SSF81660,TIGRFAM_domain:TIGR01652	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	168	0	0	168	152	22	0.126437	174
.	6:167995936	T	ENSG00000125337	ENST00000443060	Transcript	upstream_gene_variant	NA	NA	NA	NA	NA	NA	MODIFIER	3156	1	NA	SNV	KIF25	HGNC	HGNC:6390	protein_coding	YES	5	P1	CCDS5305.1	ENSP00000388878	Q9UIL4	NA	UPI000012DDAB	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	54	0	0	54	48	3	0.058824	51
.	22:22327770	A	ENSG00000211645	ENST00000390291	Transcript	missense_variant	361	310	104	E/K	Gag/Aag	NA	MODERATE	NA	1	cds_end_NF	SNV	IGLV1-50	HGNC	HGNC:5881	IG_V_gene	YES	NA	P1	NA	ENSP00000374826	NA	A0A075B6I6	UPI0000F30332	NA	tolerated_low_confidence(0.05)	benign(0.433)	2/2	NA	Gene3D:2.60.40.10,Pfam_domain:PF07686,PROSITE_profiles:PS50835,hmmpanther:PTHR23267,hmmpanther:PTHR23267:SF167,SMART_domains:SM00406,SMART_domains:SM00409,Superfamily_domains:SSF48726	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	226	0	0	226	143	9	0.059211	152
.	6:12294327	T	ENSG00000078401	ENST00000379375	Transcript	synonymous_variant	723	456	152	G	ggG/ggT	COSM4548798,COSM450427	LOW	NA	1	NA	SNV	EDN1	HGNC	HGNC:3176	protein_coding	YES	1	P1	CCDS4522.1	ENSP00000368683	P05305	Q6FH53	UPI000012A217	1	NA	NA	4/5	NA	hmmpanther:PTHR13874,hmmpanther:PTHR13874:SF10,Low_complexity_(Seg):seg	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	463	0	0	463	303	138	0.312925	441
.	6:50843384	G	ENSG00000008196	ENST00000393655	Transcript	missense_variant	1544	1375	459	R/G	Agg/Ggg	COSM451618	MODERATE	NA	1	NA	SNV	TFAP2B	HGNC	HGNC:11743	protein_coding	YES	1	P1	CCDS4934.2	ENSP00000377265	Q92481	NA	UPI000020DE90	1	deleterious(0)	possibly_damaging(0.879)	7/7	NA	hmmpanther:PTHR10812,hmmpanther:PTHR10812:SF14	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	45	0	0	45	34	18	0.346154	52
rs767529669	9:2643403	A	ENSG00000147852	ENST00000382100	Transcript	missense_variant	1048	692	231	R/H	cGt/cAt	rs767529669,COSM455787	MODERATE	NA	1	NA	SNV	VLDLR	HGNC	HGNC:12698	protein_coding	YES	1	P3	CCDS6446.1	ENSP00000371532	P98155	NA	UPI0000055935	1	tolerated(0.14)	benign(0.001)	5/19	NA	hmmpanther:PTHR10529,hmmpanther:PTHR10529:SF101,SMART_domains:SM00192	NA	NA	NA	NA	NA	NA	NA	NA	3.254e-05	0	0	0	0	0	3.59e-05	0	0.00013	0.00013	gnomAD_SAS	uncertain_significance	0,1	1,1	NA	NA	NA	NA	NA	31	0	0	31	25	10	0.285714	35
.	17:36169146	A	ENSG00000274808	ENST00000611257	Transcript	synonymous_variant	813	696	232	V	gtC/gtT	NA	LOW	NA	-1	NA	SNV	TBC1D3B	HGNC	HGNC:27011	protein_coding	YES	1	P1	CCDS42300.1	ENSP00000478473	A6NDS4	NA	UPI000292EEF0	NA	NA	NA	10/14	NA	Pfam_domain:PF00566,PROSITE_profiles:PS50086,SMART_domains:SM00164,Superfamily_domains:SSF47923	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	788	1	0.001267	789	762	96	0.111888	858
.	3:151338485	A	ENSG00000169313	ENST00000302632	Transcript	missense_variant	661	361	121	D/Y	Gat/Tat	COSM1039958	MODERATE	NA	-1	NA	SNV	P2RY12	HGNC	HGNC:18124	protein_coding	YES	1	P1	CCDS3159.1	ENSP00000307259	Q9H244	NA	UPI0000001662	1	deleterious(0)	probably_damaging(0.999)	3/3	NA	PDB-ENSP_mappings:4ntj.A,PDB-ENSP_mappings:4pxz.A,PDB-ENSP_mappings:4py0.A,PROSITE_profiles:PS50262,hmmpanther:PTHR24233,hmmpanther:PTHR24233:SF0,Pfam_domain:PF00001,Gene3D:1.20.1070.10,Superfamily_domains:SSF81321,Prints_domain:PR00237,Prints_domain:PR01157	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	140	0	0	140	352	26	0.068783	378
.	3:136151932	C	ENSG00000174579	ENST00000309993	Transcript	missense_variant	1682	949	317	M/V	Atg/Gtg	COSM445651	MODERATE	NA	-1	NA	SNV	MSL2	HGNC	HGNC:25544	protein_coding	YES	1	P1	CCDS33861.1	ENSP00000311827	Q9HCI7	NA	UPI000020A2D7	NA	tolerated(0.41)	benign(0)	2/2	NA	hmmpanther:PTHR16048	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	246	0	0	246	297	90	0.232558	387
rs201258699	13:28431293	A	ENSG00000102755	ENST00000282397	Transcript	synonymous_variant	1083	831	277	S	tcC/tcT	rs201258699,COSM4816331,COSM432273,COSM1477177	LOW	NA	-1	NA	SNV	FLT1	HGNC	HGNC:3763	protein_coding	YES	1	P1	CCDS9330.1	ENSP00000282397	P17948	L7RSL3	UPI000013DCDD	NA	NA	NA	7/30	NA	Gene3D:2.60.40.10,Pfam_domain:PF00047,Prints_domain:PR01833,PROSITE_profiles:PS50835,hmmpanther:PTHR24416,hmmpanther:PTHR24416:SF259,SMART_domains:SM00406,SMART_domains:SM00408,SMART_domains:SM00409,Superfamily_domains:SSF48726	NA	NA	NA	NA	NA	NA	NA	NA	4.068e-06	0	0	0	5.8e-05	0	0	0	0	5.8e-05	gnomAD_EAS	NA	0,1,1,1	0,1,1,1	NA	NA	NA	NA	NA	324	0	0	324	104	126	0.547826	230
.	11:70337477	T	ENSG00000131626	ENST00000253925	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	1	NA	SNV	PPFIA1	HGNC	HGNC:9245	protein_coding	YES	1	P4	CCDS31627.1	ENSP00000253925	Q13136	NA	UPI0000072426	NA	NA	NA	NA	12/27	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	522	0	0	522	1849	180	0.088714	2029
.	11:111870234	A	ENSG00000255561	ENST00000260257	Transcript	downstream_gene_variant	NA	NA	NA	NA	NA	COSM428414,COSM428413	MODIFIER	3822	-1	NA	SNV	FDXACB1	HGNC	HGNC:25110	protein_coding	YES	1	P1	CCDS44729.1	ENSP00000260257	Q9BRP7	NA	UPI00001C1EEE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1	1,1	NA	NA	NA	NA	NA	72	0	0	72	82	10	0.108696	92
rs768391234	1:1623874	A	ENSG00000197530	ENST00000505820	Transcript	synonymous_variant	710	693	231	T	acG/acA	rs768391234	LOW	NA	1	NA	SNV	MIB2	HGNC	HGNC:30577	protein_coding	YES	1	P3	CCDS41224.2	ENSP00000426103	Q96AX9	NA	UPI0001C0B37A	1	NA	NA	4/20	NA	Pfam_domain:PF00569,PROSITE_patterns:PS01357,PROSITE_profiles:PS50135,hmmpanther:PTHR24202,hmmpanther:PTHR24202:SF4,SMART_domains:SM00291,Superfamily_domains:SSF57850	NA	NA	NA	NA	NA	NA	NA	NA	4.118e-06	0	0	0	5.836e-05	0	0	0	0	5.836e-05	gnomAD_EAS	NA	NA	NA	NA	NA	NA	NA	NA	13	0	0	13	11	4	0.266667	15
rs199884737	1:45036154	A	ENSG00000162415	ENST00000359600	Transcript	synonymous_variant	2246	2040	680	Y	taC/taT	rs199884737,COSM426354	LOW	NA	-1	NA	SNV	ZSWIM5	HGNC	HGNC:29299	protein_coding	YES	1	P1	CCDS41319.1	ENSP00000352614	Q9P217	NA	UPI00001C1D76	NA	NA	NA	9/14	NA	hmmpanther:PTHR22619,hmmpanther:PTHR22619:SF2	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0,1	0,1	NA	NA	NA	NA	NA	117	0	0	117	90	56	0.383562	146
.	1:172081917	A	ENSG00000197959	ENST00000627582	Transcript	intron_variant	NA	NA	NA	NA	NA	NA	MODIFIER	NA	1	NA	SNV	DNM3	HGNC	HGNC:29125	protein_coding	YES	1	A2	CCDS53431.1	ENSP00000486701	Q9UQ16	NA	UPI0000251D91	NA	NA	NA	NA	12/20	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	289	0	0	289	534	19	0.034358	553
rs553844010	1:181733702	A	ENSG00000198216	ENST00000367573	Transcript	missense_variant	3214	3214	1072	V/I	Gtc/Atc	rs553844010,COSM900549,COSM5220971,COSM4668503,COSM3803081,COSM1583850	MODERATE	NA	1	NA	SNV	CACNA1E	HGNC	HGNC:1392	protein_coding	YES	1	A2	CCDS55664.1	ENSP00000356545	Q15878	NA	UPI00004588C2	NA	tolerated(0.98)	benign(0.001)	21/48	NA	Prints_domain:PR01633	2e-04	8e-04	0	0	0	0	NA	NA	8.835e-06	0	0	0	0	0	1.935e-05	0	0	8e-04	AFR	NA	0,1,1,1,1,1	0,1,1,1,1,1	NA	NA	NA	NA	NA	29	0	0	29	39	6	0.133333	45
.	1:219915719	A	ENSG00000196660	ENST00000366926	Transcript	missense_variant	1350	1188	396	L/F	ttA/ttT	COSM425342	MODERATE	NA	-1	NA	SNV	SLC30A10	HGNC	HGNC:25355	protein_coding	YES	1	P1	CCDS31026.1	ENSP00000355893	Q6XR72	NA	UPI000040E993	1	tolerated(0.75)	benign(0)	4/4	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	130	0	0	130	155	105	0.403846	260
.	1:225192882	A	ENSG00000185842	ENST00000430092	Transcript	missense_variant	6006	5791	1931	L/I	Cta/Ata	NA	MODERATE	NA	1	NA	SNV	DNAH14	HGNC	HGNC:2945	protein_coding	NA	5	P1	NA	ENSP00000414402	Q0VDD8	NA	UPI000192C36D	NA	tolerated(0.38)	benign(0.005)	37/84	NA	SMART_domains:SM00382	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	399	0	0	399	522	44	0.077739	566
.	1:240123181	A	ENSG00000155816	ENST00000319653	Transcript	splice_region_variant,synonymous_variant	1848	1618	540	R	Cga/Aga	NA	LOW	NA	1	NA	SNV	FMN2	HGNC	HGNC:14074	protein_coding	YES	5	P1	CCDS31069.2	ENSP00000318884	Q9NZ56	NA	UPI00015FA087	1	NA	NA	2/18	NA	PROSITE_profiles:PS50186	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	110	0	0	110	176	19	0.097436	195
.	11:47584386	T	ENSG00000213619	ENST00000263774	Transcript	missense_variant	782	700	234	D/Y	Gac/Tac	COSM429071	MODERATE	NA	1	NA	SNV	NDUFS3	HGNC	HGNC:7710	protein_coding	YES	1	P1	CCDS7941.1	ENSP00000263774	O75489	NA	UPI0000130930	1	deleterious(0)	probably_damaging(0.987)	7/7	NA	Superfamily_domains:0052776,hmmpanther:PTHR10884,hmmpanther:PTHR10884:SF10	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	185	0	0	185	136	47	0.256831	183
.	16:3552193	T	ENSG00000167984	ENST00000359128	Transcript	splice_region_variant,intron_variant	NA	NA	NA	NA	NA	NA	LOW	NA	-1	NA	SNV	NLRC3	HGNC	HGNC:29889	protein_coding	YES	1	P1	CCDS73817.1	ENSP00000352039	Q7RTR2	C3VPR7	UPI00004CE17D	NA	NA	NA	NA	10/19	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	277	1	0.003597	278	476	33	0.064833	509
rs763860114	5:41149342	T	ENSG00000039537	ENST00000263413	Transcript	missense_variant	2787	2522	841	R/H	cGc/cAc	rs763860114,COSM449677	MODERATE	NA	-1	NA	SNV	C6	HGNC	HGNC:1339	protein_coding	YES	1	P1	CCDS3936.1	ENSP00000263413	P13671	NA	UPI000013D401	1	tolerated(0.19)	benign(0.35)	17/18	NA	PDB-ENSP_mappings:3t5o.A,PDB-ENSP_mappings:4a5w.B,PDB-ENSP_mappings:4e0s.B,hmmpanther:PTHR19325:SF23,hmmpanther:PTHR19325	NA	NA	NA	NA	NA	NA	NA	NA	1.627e-05	0	0	0	0	0	3.593e-05	0	0	3.593e-05	gnomAD_NFE	NA	0,1	0,1	NA	NA	NA	NA	NA	283	0	0	283	233	93	0.285276	326
rs748211577	18:30994363	A	ENSG00000134762	ENST00000360428	Transcript	stop_gained	2584	2503	835	R/*	Cga/Tga	rs748211577,COSM438029	HIGH	NA	-1	NA	SNV	DSC3	HGNC	HGNC:3037	protein_coding	YES	1	P2	CCDS32810.1	ENSP00000353608	Q14574	NA	UPI000004CAAD	1	NA	NA	16/16	NA	Gene3D:4.10.900.10,Pfam_domain:PF01049,hmmpanther:PTHR24025,hmmpanther:PTHR24025:SF12	NA	NA	NA	NA	NA	NA	NA	NA	2.44e-05	0.0001308	0	0	0	0	2.691e-05	0	3.251e-05	0.0001308	gnomAD_AFR	NA	0,1	0,1	NA	NA	NA	NA	NA	87	0	0	87	111	42	0.27451	153
.	18:36205259	G	ENSG00000075643	ENST00000261326	Transcript	missense_variant	1222	1201	401	I/V	Atc/Gtc	COSM3821417	MODERATE	NA	1	NA	SNV	MOCOS	HGNC	HGNC:18234	protein_coding	YES	1	P1	CCDS11919.1	ENSP00000261326	Q96EN8	NA	UPI000013D165	1	tolerated(0.71)	benign(0.005)	6/15	NA	Gene3D:3.90.1150.10,HAMAP:MF_03050,Pfam_domain:PF00266,hmmpanther:PTHR14237,hmmpanther:PTHR14237:SF19,Superfamily_domains:SSF53383	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	295	0	0	295	253	82	0.244776	335
rs763650548	9:134738514	T	ENSG00000130635	ENST00000371817	Transcript	missense_variant,splice_region_variant	1844	1430	477	A/V	gCg/gTg	rs763650548	MODERATE	NA	1	NA	SNV	COL5A1	HGNC	HGNC:2209	protein_coding	YES	1	P3	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	1	tolerated(0.11)	probably_damaging(0.984)	10/66	NA	Pfam_domain:PF01391,Low_complexity_(Seg):seg	NA	NA	NA	NA	NA	NA	NA	NA	1.219e-05	0	0	0	0	0	1.791e-05	0	3.249e-05	3.249e-05	gnomAD_SAS	uncertain_significance	NA	1	NA	NA	NA	NA	NA	55	0	0	55	48	9	0.157895	57
rs752258620	20:63203673	A	ENSG00000149658	ENST00000370339	Transcript	synonymous_variant	609	267	89	Y	taC/taT	rs752258620,COSM444195	LOW	NA	-1	NA	SNV	YTHDF1	HGNC	HGNC:15867	protein_coding	YES	1	P1	CCDS13511.1	ENSP00000359364	Q9BYJ9	NA	UPI0000128DD9	NA	NA	NA	4/5	NA	hmmpanther:PTHR12357,hmmpanther:PTHR12357:SF20	NA	NA	NA	NA	NA	NA	NA	NA	1.218e-05	6.534e-05	0	0	0	0	1.79e-05	0	0	6.534e-05	gnomAD_AFR	NA	0,1	0,1	NA	NA	NA	NA	NA	247	0	0	247	164	160	0.493827	324
rs199819471	11:64900548	T	ENSG00000110046	ENST00000377264	Transcript	synonymous_variant	4523	4410	1470	T	acG/acA	rs199819471,COSM3809994	LOW	NA	-1	NA	SNV	ATG2A	HGNC	HGNC:29028	protein_coding	YES	1	P1	CCDS31602.1	ENSP00000366475	Q2TAZ0	NA	UPI00001C1F21	NA	NA	NA	31/41	NA	hmmpanther:PTHR13190,hmmpanther:PTHR13190:SF21	2e-04	0	0	0	0.001	0	NA	NA	1.224e-05	0	2.979e-05	0	0	0	1.8e-05	0	0	0.001	EUR	NA	0,1	0,1	NA	NA	NA	NA	NA	51	0	0	51	26	17	0.395349	43
.	10:48223176	T	ENSG00000170324	ENST00000374201	Transcript	synonymous_variant	1566	1263	421	T	acC/acA	COSM427593	LOW	NA	-1	NA	SNV	FRMPD2	HGNC	HGNC:28572	protein_coding	YES	1	P3	CCDS31195.1	ENSP00000363317	Q68DX3	NA	UPI0000D60F5F	NA	NA	NA	11/29	NA	PROSITE_profiles:PS50057,SMART_domains:SM00295,Superfamily_domains:SSF54236	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	161	0	0	161	137	29	0.174699	166
.	8:47595840	A	ENSG00000164808	ENST00000297423	Transcript	missense_variant	1511	1127	376	C/Y	tGc/tAc	COSM454610	MODERATE	NA	1	NA	SNV	SPIDR	HGNC	HGNC:28971	protein_coding	YES	1	P3	CCDS43737.1	ENSP00000297423	Q14159	NA	UPI0000253B92	1	tolerated(0.18)	benign(0.003)	9/20	NA	hmmpanther:PTHR34347	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	431	1	0.002315	432	283	127	0.309756	410
.	19:56550179	T	ENSG00000196867	ENST00000301318	Transcript	missense_variant,splice_region_variant	871	800	267	A/V	gCa/gTa	COSM440427	MODERATE	NA	1	NA	SNV	ZFP28	HGNC	HGNC:17801	protein_coding	YES	1	P1	CCDS12946.1	ENSP00000301318	Q8NHY6	NA	UPI000006D90E	NA	tolerated(0.83)	benign(0)	6/8	NA	PROSITE_profiles:PS50805,Pfam_domain:PF01352,SMART_domains:SM00349,Superfamily_domains:0044637	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	154	0	0	154	234	59	0.201365	293
rs121913279	3:179234297	G	ENSG00000121879	ENST00000263967	Transcript	missense_variant	3297	3140	1047	H/R	cAt/cGt	rs121913279,COSM94987,COSM94986,COSM776,COSM775,COSM249874	MODERATE	NA	1	NA	SNV	PIK3CA	HGNC	HGNC:8975	protein_coding	YES	2	P1	CCDS43171.1	ENSP00000263967	P42336	NA	UPI000013D494	1	tolerated(0.11)	benign(0.085)	21/21	NA	Gene3D:1.10.1070.11,PDB-ENSP_mappings:2rd0.A,PDB-ENSP_mappings:3hhm.A,PDB-ENSP_mappings:3hiz.A,PDB-ENSP_mappings:4jps.A,PDB-ENSP_mappings:4l1b.A,PDB-ENSP_mappings:4l23.A,PDB-ENSP_mappings:4l2y.A,PDB-ENSP_mappings:4ovu.A,PDB-ENSP_mappings:4ovv.A,PDB-ENSP_mappings:4tuu.A,PDB-ENSP_mappings:4tv3.A,PDB-ENSP_mappings:4waf.A,PDB-ENSP_mappings:4ykn.A,PDB-ENSP_mappings:4zop.A,PDB-ENSP_mappings:5dxh.A,PDB-ENSP_mappings:5dxh.D,PDB-ENSP_mappings:5dxt.A,PDB-ENSP_mappings:5fi4.A,PDB-ENSP_mappings:5itd.A,PDB-ENSP_mappings:5sw8.A,PDB-ENSP_mappings:5swg.A,PDB-ENSP_mappings:5swo.A,PDB-ENSP_mappings:5swp.A,PDB-ENSP_mappings:5swr.A,PDB-ENSP_mappings:5swt.A,PDB-ENSP_mappings:5sx8.A,PDB-ENSP_mappings:5sx9.A,PDB-ENSP_mappings:5sxa.A,PDB-ENSP_mappings:5sxb.A,PDB-ENSP_mappings:5sxc.A,PDB-ENSP_mappings:5sxd.A,PDB-ENSP_mappings:5sxe.A,PDB-ENSP_mappings:5sxf.A,PDB-ENSP_mappings:5sxi.A,PDB-ENSP_mappings:5sxj.A,PDB-ENSP_mappings:5sxk.A,PDB-ENSP_mappings:5ubr.A,PDB-ENSP_mappings:5ukj.A,PDB-ENSP_mappings:5ul1.A,PROSITE_profiles:PS50290,hmmpanther:PTHR10048,hmmpanther:PTHR10048:SF54,SMART_domains:SM00146,Superfamily_domains:SSF56112	NA	NA	NA	NA	NA	NA	NA	NA	4.083e-06	0	0	0	0	0	9.04e-06	0	0	9.04e-06	gnomAD_NFE	likely_pathogenic,pathogenic	0,1,1,1,1,1	1,1,1,1,1,1	15520168,15608678,17673550,23946963,15016963,22658544,22729222,26266975,26266985,28163917,25710561,28347348	NA	NA	NA	NA	235	0	0	235	160	404	0.716312	564
rs772506851	18:210024	C	ENSG00000101557	ENST00000261601	Transcript	synonymous_variant	1309	1218	406	F	ttT/ttC	rs772506851,COSM437975	LOW	NA	1	NA	SNV	USP14	HGNC	HGNC:12612	protein_coding	YES	1	P1	CCDS32780.1	ENSP00000261601	P54578	NA	UPI0000163941	NA	NA	NA	14/16	NA	PROSITE_profiles:PS50235,Pfam_domain:PF00443,Superfamily_domains:SSF54001	NA	NA	NA	NA	NA	NA	NA	NA	4.21e-06	0	0	0	0	0	9.138e-06	0	0	9.138e-06	gnomAD_NFE	NA	0,1	0,1	NA	NA	NA	NA	NA	551	0	0	551	342	170	0.332031	512
.	18:2738406	C	ENSG00000101596	ENST00000320876	Transcript	missense_variant	3624	3286	1096	T/P	Act/Cct	NA	MODERATE	NA	1	NA	SNV	SMCHD1	HGNC	HGNC:29090	protein_coding	YES	5	P1	CCDS45822.1	ENSP00000326603	A6NHR9	NA	UPI00001D7AAD	1	deleterious(0.04)	probably_damaging(0.916)	26/48	NA	hmmpanther:PTHR22640	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	336	0	0	336	370	19	0.048843	389
.	8:30848134	T	ENSG00000133863	ENST00000256246	Transcript	missense_variant	884	884	295	S/N	aGc/aAc	COSM454459	MODERATE	NA	-1	NA	SNV	TEX15	HGNC	HGNC:11738	protein_coding	YES	1	NA	CCDS6080.1	ENSP00000256246	Q9BXT5	NA	UPI000013CEF9	NA	tolerated(1)	benign(0)	1/4	NA	hmmpanther:PTHR22380	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	125	0	0	125	85	35	0.291667	120
.	15:33581562	A	ENSG00000198838	ENST00000634891	Transcript	missense_variant	1593	1492	498	V/I	Gta/Ata	COSM433713	MODERATE	NA	1	NA	SNV	RYR3	HGNC	HGNC:10485	protein_coding	YES	1	P3	CCDS45210.1	ENSP00000489262	Q15413	NA	UPI0000E5B01A	1	deleterious(0.03)	benign(0.04)	14/104	NA	Superfamily_domains:0048280,Pfam_domain:PF01365,hmmpanther:PTHR13715,hmmpanther:PTHR13715:SF16	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	210	0	0	210	180	28	0.134615	208
rs551445028	2:178481844	T	ENSG00000116095	ENST00000234453	Transcript	intron_variant	NA	NA	NA	NA	NA	rs551445028	MODIFIER	NA	1	NA	SNV	PLEKHA3	HGNC	HGNC:14338	protein_coding	YES	1	P1	CCDS33336.1	ENSP00000234453	Q9HB20	NA	UPI000000DA8A	NA	NA	NA	NA	1/7	NA	0.0785	0.1089	0.0375	0.1002	0.0219	0.1022	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	0.1089	AFR	NA	NA	NA	NA	NA	NA	NA	NA	77	0	0	77	54	61	0.530435	115
.	19:39459051	A	ENSG00000196235	ENST00000599117	Transcript	missense_variant	803	436	146	A/T	Gcc/Acc	COSM439476	MODERATE	NA	1	NA	SNV	SUPT5H	HGNC	HGNC:11469	protein_coding	YES	5	P3	CCDS12536.1	ENSP00000470252	O00267	NA	UPI000006D81A	NA	deleterious(0.02)	benign(0.152)	8/31	NA	hmmpanther:PTHR11125,PIRSF_domain:PIRSF036945,Pfam_domain:PF11942	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1	1	NA	NA	NA	NA	NA	130	0	0	130	101	17	0.144068	118
.	11:72781166	A	ENSG00000214530	ENST00000334805	Transcript	missense_variant	936	16	6	A/S	Gcc/Tcc	NA	MODERATE	NA	-1	NA	SNV	STARD10	HGNC	HGNC:10666	protein_coding	YES	1	P1	CCDS41688.1	ENSP00000335247	Q9Y365	A0A024R5L8	UPI0000035BCF	NA	tolerated_low_confidence(0.14)	benign(0.003)	2/7	NA	hmmpanther:PTHR19308,hmmpanther:PTHR19308:SF7	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	45	0	0	45	77	7	0.083333	84
.	11:72781167	G	ENSG00000214530	ENST00000334805	Transcript	synonymous_variant	935	15	5	A	gcG/gcC	NA	LOW	NA	-1	NA	SNV	STARD10	HGNC	HGNC:10666	protein_coding	YES	1	P1	CCDS41688.1	ENSP00000335247	Q9Y365	A0A024R5L8	UPI0000035BCF	NA	NA	NA	2/7	NA	hmmpanther:PTHR19308,hmmpanther:PTHR19308:SF7	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	43	0	0	43	72	7	0.088608	79
.	5:96750644	A	ENSG00000153113	ENST00000395812	Transcript	missense_variant	1549	1363	455	C/S	Tgt/Agt	COSM3828636,COSM3828635,COSM3828634	MODERATE	NA	1	NA	SNV	CAST	HGNC	HGNC:1515	protein_coding	YES	2	A2	CCDS54882.1	ENSP00000379157	P20810	NA	UPI0000DA4C59	1	tolerated(0.13)	probably_damaging(0.998)	18/30	NA	hmmpanther:PTHR10077,Pfam_domain:PF00748	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	1,1,1	1,1,1	NA	NA	NA	NA	NA	183	0	0	183	102	59	0.36646	161
rs771045579	19:15170342	T	ENSG00000074181	ENST00000263388	Transcript	synonymous_variant	5179	5103	1701	A	gcG/gcA	rs771045579,COSM438773,COSM1480699	LOW	NA	-1	NA	SNV	NOTCH3	HGNC	HGNC:7883	protein_coding	YES	1	P1	CCDS12326.1	ENSP00000263388	Q9UM47	NA	UPI000013D3FA	1	NA	NA	27/33	NA	hmmpanther:PTHR24033,hmmpanther:PTHR24033:SF57	NA	NA	NA	NA	NA	NA	NA	NA	1.632e-05	0	0	0.0002033	0	0	0	0.0001828	3.249e-05	0.0002033	gnomAD_ASJ	NA	0,1,1	0,1,1	NA	NA	NA	NA	NA	28	0	0	28	17	9	0.346154	26
