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	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ERLIN2	11160	broad.mit.edu	37	8	37611003	37611003	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37611003G>C	ENST00000276461.5	+	11	842	c.775G>C	c.(775-777)Gat>Cat	p.D259H	ERLIN2_ENST00000519638.1_Missense_Mutation_p.D259H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	259	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCAAAGGCAGATGCTGAGTG	0.498000													3	54					0	0	0.150653	0	0
PKHD1	5314	broad.mit.edu	37	6	51612955	51612955	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:51612955A>C	ENST00000371117.3	-	58	9734	c.9459T>G	c.(9457-9459)ttT>ttG	p.F3153L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3153					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCATAGTCAAAGTTCTTGA	0.408000													16	209					0	0	0.146539	0	0
RNF103	7844	broad.mit.edu	37	2	86847496	86847496	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:86847496T>C	ENST00000237455.4	-	2	1291	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	108					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CACAAGCTCATAGAAGTGCAT	0.403000													11	71					0	0	0.080935	0	0
FBXO38	81545	broad.mit.edu	37	5	147796680	147796680	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:147796680A>C	ENST00000340253.5	+	12	1699	c.1531A>C	c.(1531-1533)Aac>Cac	p.N511H	FBXO38_ENST00000513826.1_Missense_Mutation_p.N511H|FBXO38_ENST00000296701.6_Missense_Mutation_p.N511H|FBXO38_ENST00000394370.3_Missense_Mutation_p.N511H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	511						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACGACAACAATCACCA	0.473000													12	31					0	0	0.080935	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735080	41735080	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:41735080T>G	ENST00000352645.4	+	9	958	c.701T>G	c.(700-702)cTg>cGg	p.L234R	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L234R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	250					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTCACGTTCTGGACCTGCTG	0.667000													64	133					0	0	0.139131	0	0
IQGAP1	8826	broad.mit.edu	37	15	91040570	91040570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr15:91040570C>T	ENST00000268182.5	+	37	4982	c.4858C>T	c.(4858-4860)Cag>Tag	p.Q1620*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q1048*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1620	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTACATTATCAGGTGGGTAT	0.388000													14	29					0	0	0.105934	0	0
FRG1B	0	broad.mit.edu	37	20	29633899	29633899	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:29633899G>A	ENST00000278882.3	+	9	918	c.536_splice	c.e9-1	p.E180_splice	FRG1B_ENST00000358464.4_Splice_Site_p.E180_splice																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAAACAAGAGAACCAAATTG	0.269000													3	40					0	0	0.150653	0	0
MN1	4330	broad.mit.edu	37	22	28196380	28196380	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:28196380G>A	ENST00000302326.4	-	1	1106	c.152C>T	c.(151-153)gCt>gTt	p.A51V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	51							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCGCTCATAGCAGGATCCAC	0.647000			T	ETV6	"""AML, meningioma"""								6	81					0	0	0.029380	0	0
MGAT5B	146664	broad.mit.edu	37	17	74928777	74928777	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:74928777G>A	ENST00000569840.2	+	11	1916	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	MGAT5B_ENST00000301618.4_Missense_Mutation_p.E448K|MGAT5B_ENST00000428789.2_Missense_Mutation_p.E459K	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	448						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGCTCAACGAGACGGAGAA	0.627000													6	93					0	0	0.029380	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682254	7682254	+	Silent	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:7682254T>C	ENST00000446248.2	+	17	3437	c.3336T>C	c.(3334-3336)ccT>ccC	p.P1112P	CAMSAP3_ENST00000160298.4_Silent_p.P1085P	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1085	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCGCCTGCCTGGAAGCCGCG	0.637000													4	68					0	0	0.014758	0	0
SPTB	6710	broad.mit.edu	37	14	65246524	65246524	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:65246524C>T	ENST00000389722.3	-	20	4445	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_Silent_p.L1464L|SPTB_ENST00000389721.5_Silent_p.L1464L|SPTB_ENST00000556626.1_Silent_p.L1464L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1464					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTAGGGGTTCCAGGAGGTCCA	0.582000													6	133					0	0	0.021553	0	0
PCSK2	5126	broad.mit.edu	37	20	17436993	17436993	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:17436993G>A	ENST00000262545.2	+	10	1417	c.1101_splice	c.e10-1	p.A368_splice	PCSK2_ENST00000377899.1_Splice_Site_p.A349_splice|PCSK2_ENST00000536609.1_Splice_Site_p.A333_splice	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	368	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCCTTCCAGGCAACCACAGA	0.488000													15	180					0	0	0.132662	0	0
CHGB	1114	broad.mit.edu	37	20	5897548	5897548	+	Missense_Mutation	SNP	G	G	A	rs139177513		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:5897548G>A	ENST00000378961.4	+	3	377	c.173G>A	c.(172-174)cGc>cAc	p.R58H	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	58						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCTGAGTGCCGCCAAGTCCTG	0.552000													20	88					0	0	0.055883	0	0
AXIN2	8313	broad.mit.edu	37	17	63553974	63553974	+	Silent	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:63553974C>G	ENST00000307078.5	-	2	1078	c.765G>C	c.(763-765)ctG>ctC	p.L255L	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Silent_p.L255L	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	255					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCGTGGCCCTCAGAGTTTTGC	0.547000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				5	98					0	0	0.038147	0	0
ERLIN2	11160	broad.mit.edu	37	8	37602094	37602094	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37602094G>A	ENST00000276461.5	+	6	371	c.304G>A	c.(304-306)Gat>Aat	p.D102N	ERLIN2_ENST00000519638.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.D102N|ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000518586.1_Missense_Mutation_p.D102N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	102					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTCAGTGTATGATATAGTGAA	0.478000													11	115					0	0	0.105934	0	0
SCN1A	6323	broad.mit.edu	37	2	166859166	166859166	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:166859166T>C	ENST00000423058.2	-	21	4117	c.4100A>G	c.(4099-4101)aAt>aGt	p.N1367S	SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1367S|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1339S|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1367			N -> K (in SMEI; dbSNP:rs121918760).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGCAAACAAATTTACGCCCAT	0.388000													6	68					0	0	0.029380	0	0
TTN	7273	broad.mit.edu	37	2	179605764	179605764	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:179605764C>G	ENST00000589042.1	-	48	12420	c.12196G>C	c.(12196-12198)Gac>Cac	p.D4066H	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H|TTN_ENST00000591111.1_Missense_Mutation_p.D3749H|TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.D3895H|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3749							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCTGAGTCAAGTGCTTCA	0.438000													48	132					0	0	0.139131	0	0
TTC40	54777	broad.mit.edu	37	10	134622066	134622066	+	Silent	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:134622066C>G	ENST00000368586.5	-	58	8107	c.8007G>C	c.(8005-8007)ctG>ctC	p.L2669L	TTC40_ENST00000263170.5_Silent_p.L830L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	830										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATGGCGCACACAGGCAGGCAG	0.706000													11	52					0	0	0.069234	0	0
KCNA6	3742	broad.mit.edu	37	12	4919943	4919943	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr12:4919943G>A	ENST00000433855.1	+	1	1602	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	KCNA6_ENST00000280684.3_Missense_Mutation_p.G246R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	246						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AATGGGGACCGGGGGCTCCTC	0.547000										HNSCC(72;0.22)			5	113					0	0	0.029380	0	0
RHOJ	57381	broad.mit.edu	37	14	63671716	63671716	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:63671716C>T	ENST00000316754.3	+	1	591	c.129C>T	c.(127-129)aaC>aaT	p.N43N	RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.N43N	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	43					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GCTACGCCAACGACGCCTTCC	0.572000													7	50					0	0	0.047766	0	0
ADCY8	114	broad.mit.edu	37	8	131916039	131916039	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:131916039A>T	ENST00000286355.5	-	7	3982	c.1890T>A	c.(1888-1890)gaT>gaA	p.D630E	ADCY8_ENST00000377928.3_Missense_Mutation_p.D630E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	630					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCACGATATTATCAAAGGGCA	0.502000										HNSCC(32;0.087)			10	73					0	0	0.058154	0	0
ERLIN2	11160	broad.mit.edu	37	8	37602102	37602102	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37602102G>A	ENST00000276461.5	+	6	379	c.312G>A	c.(310-312)gtG>gtA	p.V104V	ERLIN2_ENST00000519638.1_Silent_p.V104V|ERLIN2_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000335171.6_Silent_p.V104V|ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V|ERLIN2_ENST00000518586.1_Silent_p.V104V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	104					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATGATATAGTGAAGAACTATA	0.478000													10	120					0	0	0.093190	0	0
FLG2	388698	broad.mit.edu	37	1	152329230	152329230	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:152329230G>C	ENST00000388718.5	-	3	1104	c.1032C>G	c.(1030-1032)aaC>aaG	p.N344K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	344	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTACAGGGGTTAGACTCAG	0.502000													10	139					0	0	0.080935	0	0
ZEB1	6935	broad.mit.edu	37	10	31810040	31810040	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:31810040T>A	ENST00000446923.2	+	7	2120	c.1729T>A	c.(1729-1731)Ttg>Atg	p.L577M	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.L593M|ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	593					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAACCTCTTGTCTCTCCT	0.438000													8	84					0	0	0.047766	0	0
RNF31	55072	broad.mit.edu	37	14	24618082	24618082	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:24618082C>A	ENST00000324103.6	+	5	948	c.628C>A	c.(628-630)Cca>Aca	p.P210T	RNF31_ENST00000559275.1_Missense_Mutation_p.P59T|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.P59T	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	210	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCCTCTGTCCCAGGTATTAT	0.458000													16	171					0.000566183	0.000618332	0.160694	1	0
SAP130	79595	broad.mit.edu	37	2	128703100	128703100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:128703100T>C	ENST00000357702.5	-	19	3040	c.2909A>G	c.(2908-2910)aAt>aGt	p.N970S	SAP130_ENST00000259234.6_Missense_Mutation_p.N943S|SAP130_ENST00000259235.3_Missense_Mutation_p.N935S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	935	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCCTTTCTGATTAGCTATTTC	0.408000													4	68					0	0	0.014758	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866203	30866203	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:30866203C>T	ENST00000215812.4	-	3	260	c.170G>A	c.(169-171)cGc>cAc	p.R57H	SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	57						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCTCACCTTGCGGAGCAAAGC	0.527000													3	33					0	0	0.150653	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214874	3214874	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:3214874G>A	ENST00000380059.3	-	5	608	c.507C>T	c.(505-507)aaC>aaT	p.N169N	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.N142N|SLC4A11_ENST00000539553.1_Silent_p.N126N	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	142					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	p.N142N(1)|p.N169N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGGCCGTCTCGTTCAGGACGA	0.597000													17	97					0	0	0.049695	0	0
PCDHA5	0	broad.mit.edu	37	5	140202764	140202764	+	Silent	SNP	G	G	A	rs17844294		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140202764G>A	ENST00000529859.1	+	1	1404	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P468P	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCAGGCTGCC	0.677000													26	125					0	0	0.091800	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855916	12855916	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:12855916G>A	ENST00000332296.7	+	4	1299	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	399										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557000													7	147					0	0	0.047766	0	0
PLAU	5328	broad.mit.edu	37	10	75673797	75673797	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:75673797A>G	ENST00000446342.1	+	7	1171	c.689A>G	c.(688-690)aAc>aGc	p.N230S	C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	247	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CTTAACTCCAACACGCAAGGG	0.502000													6	54					0	0	0.021553	0	0
DIP2C	22982	broad.mit.edu	37	10	323440	323440	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:323440A>G	ENST00000280886.6	-	37	4583	c.4496T>C	c.(4495-4497)gTt>gCt	p.V1499A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1499						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCAAGGGAACCAGGTCCAA	0.542000													5	40					0	0	0.021553	0	0
PDE10A	10846	broad.mit.edu	37	6	165752808	165752808	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:165752808T>C	ENST00000366882.1	-	21	2261	c.2107A>G	c.(2107-2109)Atg>Gtg	p.M703V	PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V|PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	703					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTGTCCATCATAGGAATAGGC	0.353000													4	126					0	0	0.150653	0	0
GABRE	2564	broad.mit.edu	37	X	151124292	151124292	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:151124292C>G	ENST00000370325.1	-	7	878	c.825G>C	c.(823-825)agG>agC	p.R275S	GABRE_ENST00000370328.3_Missense_Mutation_p.R275S|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	275					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCAAACCGCCTGCTCACAT	0.488000													13	50					0	0	0.132662	0	0
DAPK1	1612	broad.mit.edu	37	9	90261436	90261436	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr9:90261436C>G	ENST00000469640.2	+	13	1567	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	DAPK1_ENST00000491893.1_Missense_Mutation_p.L398V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L398V|DAPK1_ENST00000408954.3_Missense_Mutation_p.L398V|DAPK1_ENST00000358077.5_Missense_Mutation_p.L398V			P53355	DAPK1_HUMAN	death-associated protein kinase 1	398					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACTACAGTTGCTCATTAAAAG	0.343000									Chronic Lymphocytic Leukemia, Familial Clustering of				14	58					0	0	0.160694	0	0
GABRD	2563	broad.mit.edu	37	1	1957026	1957026	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:1957026G>A	ENST00000378585.4	+	4	402	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	107						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(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCACACCAACGAGACCCTGGG	0.637000													9	87					0	0	0.058154	0	0
EXOC1	55763	broad.mit.edu	37	4	56744213	56744213	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr4:56744213A>G	ENST00000381295.2	+	9	1553	c.1205A>G	c.(1204-1206)aAa>aGa	p.K402R	EXOC1_ENST00000346134.7_Missense_Mutation_p.K402R|EXOC1_ENST00000349598.6_Missense_Mutation_p.K402R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	402					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GATTATGGAAAATATGAAGGA	0.383000													25	66					0	0	0.108266	0	0
FLT1	2321	broad.mit.edu	37	13	28877423	28877423	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr13:28877423C>T	ENST00000282397.4	-	30	4149	c.3898G>A	c.(3898-3900)Gtc>Atc	p.V1300I	FLT1_ENST00000543394.1_Missense_Mutation_p.V323I|FLT1_ENST00000540678.1_Missense_Mutation_p.V518I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1300					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CCTTCGCTGACGTGCCCACAG	0.547000													5	73					0	0	0.014758	0	0
KLHL7	55975	broad.mit.edu	37	7	23207656	23207656	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr7:23207656C>G	ENST00000322231.7	+	10	1803	c.1313_splice	c.e10+1	p.T438_splice	KLHL7_ENST00000339077.4_Splice_Site_p.T460_splice|KLHL7_ENST00000545443.1_Splice_Site_p.T438_splice|KLHL7_ENST00000542558.1_Splice_Site_p.T235_splice|KLHL7_ENST00000539124.1_Splice_Site_p.T384_splice|KLHL7_ENST00000409689.1_Splice_Site_p.T412_splice			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	460						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCACAGAAACGTATGTATCT	0.368000													4	42					0	0	0.021553	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401765	139401765	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr9:139401765C>T	ENST00000277541.6	-	22	3710	c.3635G>A	c.(3634-3636)gGc>gAc	p.G1212D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1212	EGF-like 31; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCTGAGTGCCCCGTGGGCA	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	43					0	0	0.115264	0	0
SCN1A	6323	broad.mit.edu	37	2	166900370	166900370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:166900370G>A	ENST00000423058.2	-	11	1869	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	SCN1A_ENST00000375405.3_Missense_Mutation_p.R618C|SCN1A_ENST00000303395.4_Missense_Mutation_p.R618C|SCN1A_ENST00000409050.1_Missense_Mutation_p.R618C|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	618						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTGCTGTTGCGTCTCTCTCCG	0.537000													24	59					0	0	0.069288	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642852	127642852	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr3:127642852C>T	ENST00000405109.1	+	2	1415	c.948C>T	c.(946-948)taC>taT	p.Y316Y	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Silent_p.Y316Y			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	316								p.Y316Y(2)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCCCAAGTACGGAGAGGGTT	0.408000													6	74					0	0	0.021553	0	0
OR5AU1	390445	broad.mit.edu	37	14	21624148	21624148	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:21624148T>C	ENST00000304418.3	-	1	74	c.37A>G	c.(37-39)Ata>Gta	p.I13V		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATGAGTCTTATTGAGGGCATT	0.448000													12	148					0	0	0.080935	0	0
RBP3	5949	broad.mit.edu	37	10	48389905	48389905	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:48389905C>T	ENST00000224600.4	-	1	1086	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	325	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTGGAAGGGCGCTGCGCAGA	0.672000													6	43					0	0	0.021553	0	0
THSD7B	80731	broad.mit.edu	37	2	137814399	137814399	+	Silent	SNP	T	T	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:137814399T>G	ENST00000409968.1	+	3	727	c.549T>G	c.(547-549)tcT>tcG	p.S183S	THSD7B_ENST00000272643.3_Silent_p.S183S|THSD7B_ENST00000543459.1_Silent_p.S42S|THSD7B_ENST00000413152.2_Silent_p.S152S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGTAGTATCTGAGTTCTTAC	0.493000													13	246					0	0	0.132662	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798549	55798549	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:55798549T>A	ENST00000313555.1	+	1	655	c.655T>A	c.(655-657)Ttc>Atc	p.F219I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TATTTCTTACTTCTGCATCCT	0.438000													13	189					0	0	0.119110	0	0
FAM83B	222584	broad.mit.edu	37	6	54805411	54805411	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:54805411C>A	ENST00000306858.7	+	5	1758	c.1642C>A	c.(1642-1644)Ccc>Acc	p.P548T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	548										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTATTTAAACCCACTTTACC	0.423000													5	64					1.23904e-05	1.3712e-05	0.014758	1	0
HBE1	3046	broad.mit.edu	37	11	5289795	5289795	+	Silent	SNP	A	A	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:5289795A>T	ENST00000380237.1	-	5	692	c.348T>A	c.(346-348)gcT>gcA	p.A116A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.A116A|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	116					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGTGAGTAGCCAGAATAA	0.488000													19	135					0	0	0.055883	0	0
ZNF443	10224	broad.mit.edu	37	19	12541355	12541355	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:12541355T>A	ENST00000301547.5	-	4	1828	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	544					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAGTTATCATAATGACCGAA	0.398000													9	60					0	0	0.069234	0	0
NHS	4810	broad.mit.edu	37	X	17750102	17750102	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:17750102A>G	ENST00000380060.3	+	8	4749	c.4411A>G	c.(4411-4413)Aca>Gca	p.T1471A	NHS_ENST00000398097.3_Missense_Mutation_p.T1315A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1471						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGTAATGTGACAACCCCCAA	0.493000													14	82					0	0	0.132662	0	0
KANK2	25959	broad.mit.edu	37	19	11304613	11304613	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:11304613T>C	ENST00000432929.2	-	4	503	c.143A>G	c.(142-144)aAg>aGg	p.K48R	KANK2_ENST00000586659.1_Missense_Mutation_p.K48R|KANK2_ENST00000589894.1_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_Missense_Mutation_p.K48R|KANK2_ENST00000589359.1_Missense_Mutation_p.K48R	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	48										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCCACGTACTTGAGGAAGTC	0.692000													17	52					0	0	0.160694	0	0
PCDHGA2	0	broad.mit.edu	37	5	140720528	140720528	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140720528G>A	ENST00000394576.2	+	1	1990	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTGGCCGTGGCCGACAG	0.677000													12	115					0	0	0.080935	0	0
FAM111A	63901	broad.mit.edu	37	11	58919681	58919681	+	Silent	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:58919681A>G	ENST00000528737.1	+	5	3358	c.540A>G	c.(538-540)gaA>gaG	p.E180E	FAM111A_ENST00000533703.1_Silent_p.E180E|FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000420244.1_Silent_p.E180E|FAM111A_ENST00000531147.1_Silent_p.E180E			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	180					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CATCGACTGAATGTGTCAAAT	0.408000													16	90					0	0	0.146539	0	0
TRIM21	6737	broad.mit.edu	37	11	4411307	4411307	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:4411307G>A	ENST00000254436.7	-	2	445	c.333C>T	c.(331-333)tgC>tgT	p.C111C	TRIM21_ENST00000543625.1_Silent_p.C111C	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	111					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CACATACCCAGCAAAGGGCCT	0.577000													3	41					0	0	0.115264	0	0
STAB2	55576	broad.mit.edu	37	12	104107521	104107521	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr12:104107521C>T	ENST00000388887.2	+	42	4716	c.4512C>T	c.(4510-4512)taC>taT	p.Y1504Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1504	EGF-like 12.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGCAGGCTACACGGGTGATG	0.517000													19	203					0	0	0.069288	0	0
ANKRD45	339416	broad.mit.edu	37	1	173593981	173593981	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:173593981C>G	ENST00000333279.2	-	5	735	c.675G>C	c.(673-675)caG>caC	p.Q225H		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	241										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GTTGTTGTCTCTGCTCAAAAA	0.393000													9	48					0	0	0.047766	0	0
PKD1	5310	broad.mit.edu	37	16	2162937	2162937	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr16:2162937C>T	ENST00000262304.4	-	13	3221	c.3013G>A	c.(3013-3015)Gtc>Atc	p.V1005I	PKD1_ENST00000423118.1_Missense_Mutation_p.V1005I|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1005	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCACGGTGACGTTGCTCACG	0.642000													4	48					0	0	0.014758	0	0
HPCA	3208	broad.mit.edu	37	1	33354639	33354639	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:33354639A>G	ENST00000373467.3	+	2	242	c.140A>G	c.(139-141)gAg>gGg	p.E47G	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	47	EF-hand 1.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AATGTGGATGAGTTCAAGAAG	0.537000													9	79					0	0	0.047766	0	0
ERLIN2	11160	broad.mit.edu	37	8	37601885	37601885	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37601885G>A	ENST00000276461.5	+	5	316	c.249G>A	c.(247-249)atG>atA	p.M83I	ERLIN2_ENST00000519638.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_Missense_Mutation_p.M83I|ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	83					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGGTGTGATGATCTACTTTG	0.507000													18	257					0	0	0.175082	0	0
PCDHA7	0	broad.mit.edu	37	5	140214180	140214180	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140214180G>A	ENST00000525929.1	+	1	212	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAATTCCGTGGGGATCTT	0.617000													15	247					0	0	0.146539	0	0
IGHV3-11	0	broad.mit.edu	37	14	106573439	106573439	+	RNA	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:106573439T>A	ENST00000390601.2	-	0	264																											TAGTAGTCACTGAAGGTGAAT	0.557000													28	190					0	0	0.125774	0	0
REEP1	65055	broad.mit.edu	37	2	86459814	86459814	+	Missense_Mutation	SNP	G	G	A	rs144874997	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:86459814G>A	ENST00000165698.5	-	6	672	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	REEP1_ENST00000541910.1_Silent_p.G98G|REEP1_ENST00000538924.1_Missense_Mutation_p.R184W|REEP1_ENST00000540790.1_Missense_Mutation_p.R156W|REEP1_ENST00000535845.1_Missense_Mutation_p.R150W	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	177					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCGCTGGCCCGCCCAGACCCC	0.637000													10	52					0	0	0.058154	0	0
PTPRJ	5795	broad.mit.edu	37	11	48161138	48161138	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:48161138G>A	ENST00000418331.2	+	11	2605	c.2253G>A	c.(2251-2253)gaG>gaA	p.E751E		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	751	Fibronectin type-III 8.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGGCTTTGAGCTGGAGGTCA	0.562000													5	53					0	0	0.014758	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596291	24596291	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:24596291G>T	ENST00000535378.1	-	4	1226	c.584C>A	c.(583-585)gCg>gAg	p.A195E	KIAA0319_ENST00000378214.3_Missense_Mutation_p.A204E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A204E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A159E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A204E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	204					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CGCTGGCACCGCAGGACTGTC	0.622000													3	36					0.004672	0.00490856	0.115264	1	0
SLC5A12	159963	broad.mit.edu	37	11	26743040	26743040	+	Silent	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:26743040G>T	ENST00000396005.3	-	1	531	c.222C>A	c.(220-222)gtC>gtA	p.V74V	SLC5A12_ENST00000280467.6_Silent_p.V74V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	74					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAAGCGGTAGACTTCAGAAG	0.512000													7	74					1.26484e-09	1.43811e-09	0.038147	1	0
GLB1L3	112937	broad.mit.edu	37	11	134181019	134181019	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:134181019G>A	ENST00000431683.2	+	13	1242	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	414					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCGTGAGACCGTCGCTGTACC	0.622000													22	364					0	0	0.116897	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	rs143742734	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557000													19	124					0	0	0.049695	0	0
STARD8	9754	broad.mit.edu	37	X	67937307	67937307	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:67937307G>A	ENST00000252336.6	+	5	683	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	STARD8_ENST00000374597.3_Missense_Mutation_p.R104Q|STARD8_ENST00000374599.3_Missense_Mutation_p.R184Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	104					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TCGAGTGACCGGCCCCTCCTC	0.637000													8	26					0	0	0.069234	0	0
FKBP9L	360132	broad.mit.edu	37	7	55755596	55755596	+	RNA	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr7:55755596G>T	ENST00000455909.1	-	0	410					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						GAACAATACTGTAAGTTTTGC	0.478000													9	75					1.58986e-06	1.78323e-06	0.069234	1	0
GLB1L3	112937	broad.mit.edu	37	11	134181019	134181019	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:134181019G>A	ENST00000431683.2	+	13	1242	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	414					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCGTGAGACCGTCGCTGTACC	0.622000													22	364					0	0	0.706142	0	0
ERLIN2	11160	broad.mit.edu	37	8	37611003	37611003	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr8:37611003G>C	ENST00000276461.5	+	11	842	c.775G>C	c.(775-777)Gat>Cat	p.D259H	ERLIN2_ENST00000519638.1_Missense_Mutation_p.D259H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	259	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCAAAGGCAGATGCTGAGTG	0.498000													3	54					0	0	0.150653	0	0
PKHD1	5314	broad.mit.edu	37	6	51612955	51612955	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr6:51612955A>C	ENST00000371117.3	-	58	9734	c.9459T>G	c.(9457-9459)ttT>ttG	p.F3153L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3153					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCATAGTCAAAGTTCTTGA	0.408000													16	209					0	0	0.500413	0	0
RNF103	7844	broad.mit.edu	37	2	86847496	86847496	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:86847496T>C	ENST00000237455.4	-	2	1291	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	108					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CACAAGCTCATAGAAGTGCAT	0.403000													11	71					0	0	0.387290	0	0
FBXO38	81545	broad.mit.edu	37	5	147796680	147796680	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr5:147796680A>C	ENST00000340253.5	+	12	1699	c.1531A>C	c.(1531-1533)Aac>Cac	p.N511H	FBXO38_ENST00000394370.3_Missense_Mutation_p.N511H|FBXO38_ENST00000513826.1_Missense_Mutation_p.N511H|FBXO38_ENST00000296701.6_Missense_Mutation_p.N511H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	511						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACGACAACAATCACCA	0.473000													12	31					0	0	0.387290	0	0
PLAU	5328	broad.mit.edu	37	10	75673797	75673797	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr10:75673797A>G	ENST00000446342.1	+	7	1171	c.689A>G	c.(688-690)aAc>aGc	p.N230S	C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S|C10orf55_ENST00000412307.2_Intron	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	247	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CTTAACTCCAACACGCAAGGG	0.502000													6	54					0	0	0.217242	0	0
FRG1B	0	broad.mit.edu	37	20	29633899	29633899	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr20:29633899G>A	ENST00000278882.3	+	9	918	c.536_splice	c.e9-1	p.E180_splice	FRG1B_ENST00000358464.4_Splice_Site_p.E180_splice																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAAACAAGAGAACCAAATTG	0.269000													3	40					0	0	0.150653	0	0
DAPK1	1612	broad.mit.edu	37	9	90261436	90261436	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr9:90261436C>G	ENST00000469640.2	+	13	1567	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	DAPK1_ENST00000358077.5_Missense_Mutation_p.L398V|DAPK1_ENST00000491893.1_Missense_Mutation_p.L398V|DAPK1_ENST00000408954.3_Missense_Mutation_p.L398V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L398V			P53355	DAPK1_HUMAN	death-associated protein kinase 1	398					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACTACAGTTGCTCATTAAAAG	0.343000									Chronic Lymphocytic Leukemia, Familial Clustering of				14	58					0	0	0.520397	0	0
MN1	4330	broad.mit.edu	37	22	28196380	28196380	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr22:28196380G>A	ENST00000302326.4	-	1	1106	c.152C>T	c.(151-153)gCt>gTt	p.A51V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	51							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCGCTCATAGCAGGATCCAC	0.647000			T	ETV6	"""AML, meningioma"""								6	81					0	0	0.248553	0	0
MGAT5B	146664	broad.mit.edu	37	17	74928777	74928777	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr17:74928777G>A	ENST00000569840.2	+	11	1916	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	MGAT5B_ENST00000301618.4_Missense_Mutation_p.E448K|MGAT5B_ENST00000428789.2_Missense_Mutation_p.E459K	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	448						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGCTCAACGAGACGGAGAA	0.627000													6	93					0	0	0.248553	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682254	7682254	+	Silent	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr19:7682254T>C	ENST00000446248.2	+	17	3437	c.3336T>C	c.(3334-3336)ccT>ccC	p.P1112P	CAMSAP3_ENST00000160298.4_Silent_p.P1085P	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1085	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCGCCTGCCTGGAAGCCGCG	0.637000													4	68					0	0	0.184627	0	0
SPTB	6710	broad.mit.edu	37	14	65246524	65246524	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr14:65246524C>T	ENST00000389722.3	-	20	4445	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_Silent_p.L1464L|SPTB_ENST00000389721.5_Silent_p.L1464L|SPTB_ENST00000556626.1_Silent_p.L1464L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1464					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTAGGGGTTCCAGGAGGTCCA	0.582000													6	133					0	0	0.217242	0	0
CHGB	1114	broad.mit.edu	37	20	5897548	5897548	+	Missense_Mutation	SNP	G	G	A	rs139177513		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr20:5897548G>A	ENST00000378961.4	+	3	377	c.173G>A	c.(172-174)cGc>cAc	p.R58H	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	58						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCTGAGTGCCGCCAAGTCCTG	0.552000													20	88					0	0	0.592651	0	0
PKD1	5310	broad.mit.edu	37	16	2162937	2162937	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr16:2162937C>T	ENST00000262304.4	-	13	3221	c.3013G>A	c.(3013-3015)Gtc>Atc	p.V1005I	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V1005I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1005	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCACGGTGACGTTGCTCACG	0.642000													4	48					0	0	0.184627	0	0
AXIN2	8313	broad.mit.edu	37	17	63553974	63553974	+	Silent	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr17:63553974C>G	ENST00000307078.5	-	2	1078	c.765G>C	c.(763-765)ctG>ctC	p.L255L	AXIN2_ENST00000375702.5_Silent_p.L255L|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	255					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCGTGGCCCTCAGAGTTTTGC	0.547000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				5	98					0	0	0.278610	0	0
ERLIN2	11160	broad.mit.edu	37	8	37602094	37602094	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr8:37602094G>A	ENST00000276461.5	+	6	371	c.304G>A	c.(304-306)Gat>Aat	p.D102N	ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.D102N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000519638.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000518586.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	102					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTCAGTGTATGATATAGTGAA	0.478000													11	115					0	0	0.435327	0	0
SCN1A	6323	broad.mit.edu	37	2	166859166	166859166	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:166859166T>C	ENST00000423058.2	-	21	4117	c.4100A>G	c.(4099-4101)aAt>aGt	p.N1367S	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1339S|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1367S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1367			N -> K (in SMEI; dbSNP:rs121918760).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGCAAACAAATTTACGCCCAT	0.388000													6	68					0	0	0.248553	0	0
TTN	7273	broad.mit.edu	37	2	179605764	179605764	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:179605764C>G	ENST00000589042.1	-	48	12420	c.12196G>C	c.(12196-12198)Gac>Cac	p.D4066H	TTN_ENST00000342175.6_Missense_Mutation_p.D3895H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D3749H|TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3749							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCTGAGTCAAGTGCTTCA	0.438000													48	132					0	0	0.870114	0	0
TTC40	54777	broad.mit.edu	37	10	134622066	134622066	+	Silent	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr10:134622066C>G	ENST00000368586.5	-	58	8107	c.8007G>C	c.(8005-8007)ctG>ctC	p.L2669L	TTC40_ENST00000263170.5_Silent_p.L830L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	830										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATGGCGCACACAGGCAGGCAG	0.706000													11	52					0	0	0.361761	0	0
KCNA6	3742	broad.mit.edu	37	12	4919943	4919943	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr12:4919943G>A	ENST00000433855.1	+	1	1602	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	KCNA6_ENST00000280684.3_Missense_Mutation_p.G246R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	246						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AATGGGGACCGGGGGCTCCTC	0.547000										HNSCC(72;0.22)			5	113					0	0	0.248553	0	0
RHOJ	57381	broad.mit.edu	37	14	63671716	63671716	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr14:63671716C>T	ENST00000316754.3	+	1	591	c.129C>T	c.(127-129)aaC>aaT	p.N43N	RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.N43N	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	43					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GCTACGCCAACGACGCCTTCC	0.572000													7	50					0	0	0.307466	0	0
ADCY8	114	broad.mit.edu	37	8	131916039	131916039	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr8:131916039A>T	ENST00000286355.5	-	7	3982	c.1890T>A	c.(1888-1890)gaT>gaA	p.D630E	ADCY8_ENST00000377928.3_Missense_Mutation_p.D630E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	630					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCACGATATTATCAAAGGGCA	0.502000										HNSCC(32;0.087)			10	73					0	0	0.335167	0	0
ERLIN2	11160	broad.mit.edu	37	8	37602102	37602102	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr8:37602102G>A	ENST00000276461.5	+	6	379	c.312G>A	c.(310-312)gtG>gtA	p.V104V	ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000335171.6_Silent_p.V104V|ERLIN2_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000519638.1_Silent_p.V104V|ERLIN2_ENST00000518586.1_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	104					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATGATATAGTGAAGAACTATA	0.478000													10	120					0	0	0.411799	0	0
FLG2	388698	broad.mit.edu	37	1	152329230	152329230	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr1:152329230G>C	ENST00000388718.5	-	3	1104	c.1032C>G	c.(1030-1032)aaC>aaG	p.N344K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	344	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTACAGGGGTTAGACTCAG	0.502000													10	139					0	0	0.387290	0	0
ZEB1	6935	broad.mit.edu	37	10	31810040	31810040	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr10:31810040T>A	ENST00000446923.2	+	7	2120	c.1729T>A	c.(1729-1731)Ttg>Atg	p.L577M	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000320985.10_Missense_Mutation_p.L593M|ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	593					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAACCTCTTGTCTCTCCT	0.438000													8	84					0	0	0.307466	0	0
RNF31	55072	broad.mit.edu	37	14	24618082	24618082	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr14:24618082C>A	ENST00000324103.6	+	5	948	c.628C>A	c.(628-630)Cca>Aca	p.P210T	RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.P59T|RNF31_ENST00000559275.1_Missense_Mutation_p.P59T	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	210	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCCTCTGTCCCAGGTATTAT	0.458000													16	171					0.000566183	0.000610882	0.520397	1	0
GABRE	2564	broad.mit.edu	37	X	151124292	151124292	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chrX:151124292C>G	ENST00000370325.1	-	7	878	c.825G>C	c.(823-825)agG>agC	p.R275S	GABRE_ENST00000370328.3_Missense_Mutation_p.R275S|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	275					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCAAACCGCCTGCTCACAT	0.488000													13	50					0	0	0.479597	0	0
SAP130	79595	broad.mit.edu	37	2	128703100	128703100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:128703100T>C	ENST00000357702.5	-	19	3040	c.2909A>G	c.(2908-2910)aAt>aGt	p.N970S	SAP130_ENST00000259235.3_Missense_Mutation_p.N935S|SAP130_ENST00000259234.6_Missense_Mutation_p.N943S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	935	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCCTTTCTGATTAGCTATTTC	0.408000													4	68					0	0	0.184627	0	0
SEC14L3	266629	broad.mit.edu	37	22	30866203	30866203	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr22:30866203C>T	ENST00000215812.4	-	3	260	c.170G>A	c.(169-171)cGc>cAc	p.R57H	SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	57						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCTCACCTTGCGGAGCAAAGC	0.527000													3	33					0	0	0.150653	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735080	41735080	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr22:41735080T>G	ENST00000352645.4	+	9	958	c.701T>G	c.(700-702)cTg>cGg	p.L234R	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L234R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	250					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTCACGTTCTGGACCTGCTG	0.667000													64	133					0	0	0.870114	0	0
PCDHA5	0	broad.mit.edu	37	5	140202764	140202764	+	Silent	SNP	G	G	A	rs17844294		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr5:140202764G>A	ENST00000529859.1	+	1	1404	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P468P|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCAGGCTGCC	0.677000													26	125					0	0	0.667858	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855916	12855916	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr1:12855916G>A	ENST00000332296.7	+	4	1299	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	399										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557000													7	147					0	0	0.307466	0	0
MUC4	4585	broad.mit.edu	37	3	195505813	195505813	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr3:195505813T>C	ENST00000463781.3	-	2	13097	c.12638A>G	c.(12637-12639)gAc>gGc	p.D4213G	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	970					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.D4213G(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGG	0.592000													2	5					0	0	0.115264	0	0
DIP2C	22982	broad.mit.edu	37	10	323440	323440	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr10:323440A>G	ENST00000280886.6	-	37	4583	c.4496T>C	c.(4495-4497)gTt>gCt	p.V1499A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1499						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCAAGGGAACCAGGTCCAA	0.542000													5	40					0	0	0.217242	0	0
PDE10A	10846	broad.mit.edu	37	6	165752808	165752808	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr6:165752808T>C	ENST00000366882.1	-	21	2261	c.2107A>G	c.(2107-2109)Atg>Gtg	p.M703V	PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V|PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	703					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTGTCCATCATAGGAATAGGC	0.353000													4	126					0	0	0.150653	0	0
STARD8	9754	broad.mit.edu	37	X	67937307	67937307	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chrX:67937307G>A	ENST00000252336.6	+	5	683	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	STARD8_ENST00000374599.3_Missense_Mutation_p.R184Q|STARD8_ENST00000374597.3_Missense_Mutation_p.R104Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	104					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TCGAGTGACCGGCCCCTCCTC	0.637000													8	26					0	0	0.361761	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214874	3214874	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr20:3214874G>A	ENST00000380059.3	-	5	608	c.507C>T	c.(505-507)aaC>aaT	p.N169N	SLC4A11_ENST00000539553.1_Silent_p.N126N|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.N142N	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	142					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	p.N142N(1)|p.N169N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGGCCGTCTCGTTCAGGACGA	0.597000													17	97					0	0	0.575678	0	0
GABRD	2563	broad.mit.edu	37	1	1957026	1957026	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr1:1957026G>A	ENST00000378585.4	+	4	402	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	107						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(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCACACCAACGAGACCCTGGG	0.637000													9	87					0	0	0.335167	0	0
EXOC1	55763	broad.mit.edu	37	4	56744213	56744213	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr4:56744213A>G	ENST00000381295.2	+	9	1553	c.1205A>G	c.(1204-1206)aAa>aGa	p.K402R	EXOC1_ENST00000349598.6_Missense_Mutation_p.K402R|EXOC1_ENST00000346134.7_Missense_Mutation_p.K402R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	402					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GATTATGGAAAATATGAAGGA	0.383000													25	66					0	0	0.693898	0	0
FLT1	2321	broad.mit.edu	37	13	28877423	28877423	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr13:28877423C>T	ENST00000282397.4	-	30	4149	c.3898G>A	c.(3898-3900)Gtc>Atc	p.V1300I	FLT1_ENST00000540678.1_Missense_Mutation_p.V518I|FLT1_ENST00000543394.1_Missense_Mutation_p.V323I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1300					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CCTTCGCTGACGTGCCCACAG	0.547000													5	73					0	0	0.184627	0	0
KLHL7	55975	broad.mit.edu	37	7	23207656	23207656	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr7:23207656C>G	ENST00000322231.7	+	10	1803	c.1313_splice	c.e10+1	p.T438_splice	KLHL7_ENST00000542558.1_Splice_Site_p.T235_splice|KLHL7_ENST00000409689.1_Splice_Site_p.T412_splice|KLHL7_ENST00000339077.4_Splice_Site_p.T460_splice|KLHL7_ENST00000545443.1_Splice_Site_p.T438_splice|KLHL7_ENST00000539124.1_Splice_Site_p.T384_splice			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	460						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCACAGAAACGTATGTATCT	0.368000													4	42					0	0	0.217242	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401765	139401765	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr9:139401765C>T	ENST00000277541.6	-	22	3710	c.3635G>A	c.(3634-3636)gGc>gAc	p.G1212D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1212	EGF-like 31; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCTGAGTGCCCCGTGGGCA	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	43					0	0	0.115264	0	0
SCN1A	6323	broad.mit.edu	37	2	166900370	166900370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:166900370G>A	ENST00000423058.2	-	11	1869	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R618C|SCN1A_ENST00000375405.3_Missense_Mutation_p.R618C|SCN1A_ENST00000303395.4_Missense_Mutation_p.R618C|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	618						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTGCTGTTGCGTCTCTCTCCG	0.537000													24	59					0	0	0.624587	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642852	127642852	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr3:127642852C>T	ENST00000405109.1	+	2	1415	c.948C>T	c.(946-948)taC>taT	p.Y316Y	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Silent_p.Y316Y			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	316								p.Y316Y(2)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCCCAAGTACGGAGAGGGTT	0.408000													6	74					0	0	0.217242	0	0
OR5AU1	390445	broad.mit.edu	37	14	21624148	21624148	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr14:21624148T>C	ENST00000304418.3	-	1	74	c.37A>G	c.(37-39)Ata>Gta	p.I13V		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATGAGTCTTATTGAGGGCATT	0.448000													12	148					0	0	0.387290	0	0
RBP3	5949	broad.mit.edu	37	10	48389905	48389905	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr10:48389905C>T	ENST00000224600.4	-	1	1086	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	325	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTGGAAGGGCGCTGCGCAGA	0.672000													6	43					0	0	0.217242	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798549	55798549	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:55798549T>A	ENST00000313555.1	+	1	655	c.655T>A	c.(655-657)Ttc>Atc	p.F219I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TATTTCTTACTTCTGCATCCT	0.438000													13	189					0	0	0.457914	0	0
FAM83B	222584	broad.mit.edu	37	6	54805411	54805411	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr6:54805411C>A	ENST00000306858.7	+	5	1758	c.1642C>A	c.(1642-1644)Ccc>Acc	p.P548T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	548										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTATTTAAACCCACTTTACC	0.423000													5	64					1.23904e-05	1.35468e-05	0.184627	1	0
HBE1	3046	broad.mit.edu	37	11	5289795	5289795	+	Silent	SNP	A	A	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:5289795A>T	ENST00000380237.1	-	5	692	c.348T>A	c.(346-348)gcT>gcA	p.A116A	HBE1_ENST00000292896.2_Silent_p.A116A|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	116					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGTGAGTAGCCAGAATAA	0.488000													19	135					0	0	0.592651	0	0
ZNF443	10224	broad.mit.edu	37	19	12541355	12541355	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr19:12541355T>A	ENST00000301547.5	-	4	1828	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	544					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAGTTATCATAATGACCGAA	0.398000													9	60					0	0	0.361761	0	0
NHS	4810	broad.mit.edu	37	X	17750102	17750102	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chrX:17750102A>G	ENST00000380060.3	+	8	4749	c.4411A>G	c.(4411-4413)Aca>Gca	p.T1471A	NHS_ENST00000398097.3_Missense_Mutation_p.T1315A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1471						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGTAATGTGACAACCCCCAA	0.493000													14	82					0	0	0.479597	0	0
FAM111A	63901	broad.mit.edu	37	11	58919681	58919681	+	Silent	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:58919681A>G	ENST00000528737.1	+	5	3358	c.540A>G	c.(538-540)gaA>gaG	p.E180E	FAM111A_ENST00000420244.1_Silent_p.E180E|FAM111A_ENST00000531147.1_Silent_p.E180E|FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000533703.1_Silent_p.E180E			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	180					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CATCGACTGAATGTGTCAAAT	0.408000													16	90					0	0	0.500413	0	0
KANK2	25959	broad.mit.edu	37	19	11304613	11304613	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr19:11304613T>C	ENST00000432929.2	-	4	503	c.143A>G	c.(142-144)aAg>aGg	p.K48R	KANK2_ENST00000589359.1_Missense_Mutation_p.K48R|KANK2_ENST00000589894.1_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_Missense_Mutation_p.K48R|KANK2_ENST00000586659.1_Missense_Mutation_p.K48R	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	48										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCCACGTACTTGAGGAAGTC	0.692000													17	52					0	0	0.520397	0	0
PCDHGA2	0	broad.mit.edu	37	5	140720528	140720528	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr5:140720528G>A	ENST00000394576.2	+	1	1990	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTGGCCGTGGCCGACAG	0.677000													12	115					0	0	0.387290	0	0
TRIM21	6737	broad.mit.edu	37	11	4411307	4411307	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:4411307G>A	ENST00000254436.7	-	2	445	c.333C>T	c.(331-333)tgC>tgT	p.C111C	TRIM21_ENST00000543625.1_Silent_p.C111C	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	111					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CACATACCCAGCAAAGGGCCT	0.577000													3	41					0	0	0.115264	0	0
STAB2	55576	broad.mit.edu	37	12	104107521	104107521	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr12:104107521C>T	ENST00000388887.2	+	42	4716	c.4512C>T	c.(4510-4512)taC>taT	p.Y1504Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1504	EGF-like 12.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGCAGGCTACACGGGTGATG	0.517000													19	203					0	0	0.624587	0	0
ANKRD45	339416	broad.mit.edu	37	1	173593981	173593981	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr1:173593981C>G	ENST00000333279.2	-	5	735	c.675G>C	c.(673-675)caG>caC	p.Q225H		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	241										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GTTGTTGTCTCTGCTCAAAAA	0.393000													9	48					0	0	0.307466	0	0
HPCA	3208	broad.mit.edu	37	1	33354639	33354639	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr1:33354639A>G	ENST00000373467.3	+	2	242	c.140A>G	c.(139-141)gAg>gGg	p.E47G	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	47	EF-hand 1.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AATGTGGATGAGTTCAAGAAG	0.537000													9	79					0	0	0.307466	0	0
ERLIN2	11160	broad.mit.edu	37	8	37601885	37601885	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr8:37601885G>A	ENST00000276461.5	+	5	316	c.249G>A	c.(247-249)atG>atA	p.M83I	ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000519638.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	83					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGGTGTGATGATCTACTTTG	0.507000													18	257					0	0	0.539581	0	0
PCDHA7	0	broad.mit.edu	37	5	140214180	140214180	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr5:140214180G>A	ENST00000525929.1	+	1	212	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAATTCCGTGGGGATCTT	0.617000													15	247					0	0	0.500413	0	0
IGHV3-11	0	broad.mit.edu	37	14	106573439	106573439	+	RNA	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr14:106573439T>A	ENST00000390601.2	-	0	264																											TAGTAGTCACTGAAGGTGAAT	0.557000													28	190					0	0	0.717897	0	0
REEP1	65055	broad.mit.edu	37	2	86459814	86459814	+	Missense_Mutation	SNP	G	G	A	rs144874997	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:86459814G>A	ENST00000165698.5	-	6	672	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	REEP1_ENST00000540790.1_Missense_Mutation_p.R156W|REEP1_ENST00000535845.1_Missense_Mutation_p.R150W|REEP1_ENST00000541910.1_Silent_p.G98G|REEP1_ENST00000538924.1_Missense_Mutation_p.R184W	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	177					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCGCTGGCCCGCCCAGACCCC	0.637000													10	52					0	0	0.335167	0	0
PTPRJ	5795	broad.mit.edu	37	11	48161138	48161138	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:48161138G>A	ENST00000418331.2	+	11	2605	c.2253G>A	c.(2251-2253)gaG>gaA	p.E751E		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	751	Fibronectin type-III 8.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGGCTTTGAGCTGGAGGTCA	0.562000													5	53					0	0	0.184627	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596291	24596291	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr6:24596291G>T	ENST00000535378.1	-	4	1226	c.584C>A	c.(583-585)gCg>gAg	p.A195E	KIAA0319_ENST00000378214.3_Missense_Mutation_p.A204E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A204E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A159E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A204E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	204					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CGCTGGCACCGCAGGACTGTC	0.622000													3	36					0.004672	0.00491159	0.115264	1	0
SLC5A12	159963	broad.mit.edu	37	11	26743040	26743040	+	Silent	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:26743040G>T	ENST00000396005.3	-	1	531	c.222C>A	c.(220-222)gtC>gtA	p.V74V	SLC5A12_ENST00000280467.6_Silent_p.V74V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	74					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAAGCGGTAGACTTCAGAAG	0.512000													7	74					1.26484e-09	1.42078e-09	0.278610	1	0
PCSK2	5126	broad.mit.edu	37	20	17436993	17436993	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr20:17436993G>A	ENST00000262545.2	+	10	1417	c.1101_splice	c.e10-1	p.A368_splice	PCSK2_ENST00000536609.1_Splice_Site_p.A333_splice|PCSK2_ENST00000377899.1_Splice_Site_p.A349_splice	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	368	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCCTTCCAGGCAACCACAGA	0.488000													15	180					0	0	0.479597	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	rs143742734	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557000													19	124					0	0	0.575678	0	0
IQGAP1	8826	broad.mit.edu	37	15	91040570	91040570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr15:91040570C>T	ENST00000268182.5	+	37	4982	c.4858C>T	c.(4858-4860)Cag>Tag	p.Q1620*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q1048*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1620	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTACATTATCAGGTGGGTAT	0.388000													14	29					0	0	0.435327	0	0
FKBP9L	360132	broad.mit.edu	37	7	55755596	55755596	+	RNA	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr7:55755596G>T	ENST00000455909.1	-	0	410					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						GAACAATACTGTAAGTTTTGC	0.478000													9	75					1.58986e-06	1.76174e-06	0.361761	1	0
UBXN4	23190	broad.mit.edu	37	2	136536538	136536540	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:136536538_136536540delTAA	ENST00000272638.9	+	11	1385_1387	c.1074_1076delTAA	c.(1072-1077)ggt>gg	p.GN358del	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	358	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACACTTACGGTAATTTTTCGTTA	0.350													9	81	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32091103	32091104	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:32091103_32091104insC	ENST00000438447.1	+	20	7937_7938	c.7549_7550insC	c.(7549-7551)cccfs	p.P2517fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P2517fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2517					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTGGAGATCACCCCCAGGAGG	0.614													9	93	---	---	---	---					
HLA-V	0	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													4	9	---	---	---	---					
INTS4L2	0	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757																											TCACCCCCCCCCCCGTTAAAAT	0.470													2	4	---	---	---	---					
VCPIP1	80124	broad.mit.edu	37	8	67578194	67578195	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:67578194_67578195insA	ENST00000310421.4	-	1	1257_1258	c.999_1000insT	c.(997-1002)acggaafs	p.E334fs		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	334	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATCTTTCCCAGTGCACTTCT	0.470													13	146	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													3	5	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7576890	7576890	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:7576890delT	ENST00000420246.2	-	9	1088	c.956delA	c.(955-957)agfs	p.K321fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	321	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		K -> E (in kidney cancer; germline mutation).|K -> R (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K319R(1)|p.S314fs*25(1)|p.L308fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGTTTCTTCTTTGGCTGGGG	0.468		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	40	---	---	---	---					
CTD-2369P2.5	0	broad.mit.edu	37	19	10377498	10377498	+	RNA	DEL	T	T	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:10377498delT	ENST00000592893.1	-	0	141																											TCCATAGCCCTTTTTTTTTCC	0.428													2	4	---	---	---	---					
BRCC3	79184	broad.mit.edu	37	X	154305487	154305487	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:154305487delT	ENST00000369462.1	+	4	263	c.238delT	c.(238-240)tafs	p.L80fs	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs|BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	80					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTCATCATCTTACGACGTTC	0.433													21	23	---	---	---	---					
UBXN4	23190	broad.mit.edu	37	2	136536538	136536540	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:136536538_136536540delTAA	ENST00000272638.9	+	11	1385_1387	c.1074_1076delTAA	c.(1072-1077)ggt>gg	p.GN358del	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	358	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACACTTACGGTAATTTTTCGTTA	0.350													9	81	---	---	---	---					
HLA-V	0	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs74661005	by1000genomes	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243																											GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674													4	9	---	---	---	---					
VCPIP1	80124	broad.mit.edu	37	8	67578194	67578195	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr8:67578194_67578195insA	ENST00000310421.4	-	1	1257_1258	c.999_1000insT	c.(997-1002)acggaafs	p.E334fs		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	334	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATCTTTCCCAGTGCACTTCT	0.470													13	146	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493762	77493767	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr14:77493762_77493767delTGCTGC	ENST00000238647.3	-	1	1267_1272	c.369_374delGCAGCA	c.(367-375)caa>ca	p.QQQ123del		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	123	Poly-Gln.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GAgctgttgttgctgctgctgctgct	0.714													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7576890	7576890	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr17:7576890delT	ENST00000420246.2	-	9	1088	c.956delA	c.(955-957)agfs	p.K321fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.K321fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	321	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		K -> E (in kidney cancer; germline mutation).|K -> R (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K319R(1)|p.S314fs*25(1)|p.L308fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGTTTCTTCTTTGGCTGGGG	0.468		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	40	---	---	---	---					
BRCC3	79184	broad.mit.edu	37	X	154305487	154305487	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chrX:154305487delT	ENST00000369462.1	+	4	263	c.238delT	c.(238-240)tafs	p.L80fs	BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	80					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTCATCATCTTACGACGTTC	0.433													21	23	---	---	---	---