Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GRIK3	2899	broad.mit.edu	37	1	37282824	37282824	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:37282824C>A	ENST00000373091.3	-	13	1944	c.1928G>T	c.(1927-1929)tGg>tTg	p.W643L	GRIK3_ENST00000373093.4_Missense_Mutation_p.W643L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	643					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGTGAAGAACCACCAGATGCC	0.542													3	48	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89618421	89618421	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:89618421C>A	ENST00000294671.2	-	4	496	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	120						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTTAGAAGCACAGCCAGGGCA	0.468													14	29	---	---	---	---
AHCYL1	10768	broad.mit.edu	37	1	110555601	110555601	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:110555601C>A	ENST00000369799.5	+	5	927	c.560C>A	c.(559-561)gCt>gAt	p.A187D	AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A140D|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A140D	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	187					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AATGAAGTAGCTGCAGCACTG	0.443													3	28	---	---	---	---
TTC13	79573	broad.mit.edu	37	1	231060649	231060649	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:231060649C>T	ENST00000366661.4	-	14	1666	c.1659G>A	c.(1657-1659)atG>atA	p.M553I	TTC13_ENST00000414259.1_Missense_Mutation_p.M500I|TTC13_ENST00000366662.4_Missense_Mutation_p.M500I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	553							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCTTCCCATTCATTCGAACTT	0.433													34	47	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236744591	236744591	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:236744591C>T	ENST00000366582.3	-	20	2800	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	HEATR1_ENST00000366581.2_Missense_Mutation_p.V896M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	896					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCACAGCCCACATAAAGAGCT	0.398													8	104	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211542610	211542610	+	Splice_Site	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr2:211542610G>A	ENST00000233072.5	+	38	4600		c.e38-1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TATATTTTCAGGTGACCAAAC	0.413													4	160	---	---	---	---
WDR48	57599	broad.mit.edu	37	3	39125653	39125653	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr3:39125653A>C	ENST00000302313.5	+	12	1209	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T	WDR48_ENST00000396258.3_Missense_Mutation_p.K312T|WDR48_ENST00000544962.1_Missense_Mutation_p.K119T|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	394					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAGGCATGTAAAGTTGAAGAT	0.303													9	17	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70856003	70856003	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr5:70856003G>T	ENST00000358731.4	+	37	7698	c.7435G>T	c.(7435-7437)Gct>Tct	p.A2479S	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2479					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGAACTGATGCTGCTCCTAA	0.413													3	39	---	---	---	---
VARS	7407	broad.mit.edu	37	6	31748517	31748517	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:31748517G>C	ENST00000375663.3	-	24	3202	c.2762C>G	c.(2761-2763)gCt>gGt	p.A921G	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	921					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AAACCGGAGAGCATCGGTGCC	0.602													20	32	---	---	---	---
GUCA1A	2978	broad.mit.edu	37	6	42146547	42146547	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:42146547G>A	ENST00000394237.1	+	5	1335	c.359G>A	c.(358-360)cGc>cAc	p.R120H	GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120H|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120H			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	120	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGGCCATTCGCGCCATTAAC	0.587													63	106	---	---	---	---
DST	667	broad.mit.edu	37	6	56362658	56362658	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:56362658C>T	ENST00000370754.5	-	81	19996	c.19997G>A	c.(19996-19998)cGc>cAc	p.R6666H	DST_ENST00000244364.6_Missense_Mutation_p.R4074H|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.R6488H|DST_ENST00000370788.2_Missense_Mutation_p.R4291H|DST_ENST00000446842.2_Missense_Mutation_p.R6162H|DST_ENST00000361203.3_Missense_Mutation_p.R6377H|DST_ENST00000421834.2_Missense_Mutation_p.R4400H			Q03001	DYST_HUMAN	dystonin	6486					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTCACCTGGCGCAAGGCACC	0.373													5	15	---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	90024832	90024832	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:90024832A>C	ENST00000402938.3	-	1	186	c.53T>G	c.(52-54)gTg>gGg	p.V18G	GABRR2_ENST00000602399.1_Missense_Mutation_p.V43G|GABRR2_ENST00000602808.1_5'UTR	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	43					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TCTGCTCTCCACGAGAACCAT	0.478													5	159	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100182325	100182325	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr8:100182325C>T	ENST00000395996.1	+	16	2378	c.2267C>T	c.(2266-2268)cCt>cTt	p.P756L	VPS13B_ENST00000355155.1_Missense_Mutation_p.P756L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P756L|VPS13B_ENST00000358544.2_Missense_Mutation_p.P756L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	756					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACTGCTTACCTGTACCAGTT	0.393													8	45	---	---	---	---
QSER1	79832	broad.mit.edu	37	11	32994952	32994952	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr11:32994952G>C	ENST00000399302.2	+	11	5163	c.4828G>C	c.(4828-4830)Gaa>Caa	p.E1610Q	QSER1_ENST00000527788.1_Missense_Mutation_p.E1371Q	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1610										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAATGCTTTGGAAAGTTTTCC	0.328													18	44	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77738587	77738587	+	Splice_Site	SNP	A	A	G			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr13:77738587A>G	ENST00000407578.2	-	43	6814		c.e43+1		MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000544440.2_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGCCACACTTACCAATAGGAA	0.368													3	31	---	---	---	---
CDC16	8881	broad.mit.edu	37	13	115016141	115016141	+	Silent	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr13:115016141G>A	ENST00000360383.3	+	12	1287	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	CDC16_ENST00000375312.3_Silent_p.L269L|CDC16_ENST00000252457.5_Silent_p.L362L|CDC16_ENST00000375310.1_Silent_p.L269L|CDC16_ENST00000375308.1_Silent_p.L269L|CDC16_ENST00000356221.3_Silent_p.L363L|CDC16_ENST00000252458.6_Silent_p.L269L	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	363					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CAGCACAGCTGATGAAAGGGT	0.433													19	18	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33895402	33895402	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:33895402C>A	ENST00000389232.4	+	18	2071	c.2001C>A	c.(1999-2001)gaC>gaA	p.D667E	RYR3_ENST00000415757.3_Missense_Mutation_p.D667E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	667	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATTATCGACCAGGTGGACC	0.567													37	91	---	---	---	---
PAQR5	54852	broad.mit.edu	37	15	69696052	69696052	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:69696052T>C	ENST00000340965.3	+	9	1552	c.884T>C	c.(883-885)aTa>aCa	p.I295T	RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.I295T|PAQR5_ENST00000561153.1_Missense_Mutation_p.I295T	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	295					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						TTCTCTCAGATAGCTGGAGCC	0.473													3	65	---	---	---	---
USP22	23326	broad.mit.edu	37	17	20922442	20922442	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr17:20922442T>A	ENST00000261497.4	-	4	678	c.475A>T	c.(475-477)Aag>Tag	p.K159*	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Nonsense_Mutation_p.K147*	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	159					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GGGTTGTGCTTCAGCAGTTCA	0.478													51	78	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205618	100205618	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr7:100205618delA	ENST00000223061.5	+	9	1522	c.1242delA	c.(1240-1242)ccafs	p.P414fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	414	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCCTTCCTCCAGAGAGCTTTG	0.567													30	49	---	---	---	---
