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
PPIG	9360	broad.mit.edu	37	2	170493776	170493776	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:170493776G>C	ENST00000260970.3	+	14	2228	c.2008G>C	c.(2008-2010)Gat>Cat	p.D670H	PPIG_ENST00000409714.3_Missense_Mutation_p.D655H|PPIG_ENST00000448752.2_Missense_Mutation_p.D670H	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	670					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.D670H(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TAAAAGTCGTGATCATAATAG	0.348000													12	114					0	0	0.001855	0	0
NAALADL2	254827	broad.mit.edu	37	3	175184908	175184908	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:175184908C>G	ENST00000454872.1	+	8	1597	c.1469C>G	c.(1468-1470)aCt>aGt	p.T490S	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	490					proteolysis	integral to membrane	peptidase activity	p.T490S(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCAGACCGAACTATTGTTTTC	0.403000													25	77					0	0	0.003954	0	0
HAO1	54363	broad.mit.edu	37	20	7886947	7886947	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:7886947G>C	ENST00000378789.3	-	4	626	c.575C>G	c.(574-576)tCa>tGa	p.S192*		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	192	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	p.S192*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGAGAAAATGATAAAGTACT	0.343000													4	49					0	0	0.009096	0	0
MCF2L	23263	broad.mit.edu	37	13	113729480	113729480	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:113729480G>A	ENST00000397030.1	+	11	1421	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	MCF2L_ENST00000375601.3_Missense_Mutation_p.E433K|MCF2L_ENST00000434480.2_Missense_Mutation_p.E435K|MCF2L_ENST00000535094.2_Missense_Mutation_p.E429K|MCF2L_ENST00000375604.2_Missense_Mutation_p.E486K|MCF2L_ENST00000423482.2_Missense_Mutation_p.E427K|MCF2L_ENST00000421756.1_Missense_Mutation_p.E433K|MCF2L_ENST00000442652.2_Missense_Mutation_p.E459K|MCF2L_ENST00000375608.3_Missense_Mutation_p.E459K|MCF2L_ENST00000375597.4_Missense_Mutation_p.E427K			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	459					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.E486K(1)|p.E433K(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAAGTCCCTGGAGCTGCACCG	0.677000													7	35					0	0	0.006214	0	0
TCERG1	10915	broad.mit.edu	37	5	145849157	145849157	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:145849157G>C	ENST00000296702.5	+	7	1287	c.1249G>C	c.(1249-1251)Gtt>Ctt	p.V417L	TCERG1_ENST00000394421.2_Missense_Mutation_p.V396L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	417					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.V417L(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATCCCCAGGTTGCTATTGC	0.388000													57	181					0	0	0.003610	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959603	16959603	+	RNA	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:16959603G>A	ENST00000412962.1	-	0	74																											CTGCAGTGACGCCTGCCTCAT	0.602000													4	22					0	0	0.000602	0	0
MVP	9961	broad.mit.edu	37	16	29845114	29845114	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:29845114G>C	ENST00000357402.5	+	4	520	c.382G>C	c.(382-384)Gat>Cat	p.D128H	MVP_ENST00000395353.1_Missense_Mutation_p.D128H|MVP_ENST00000452209.2_Intron	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	128					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	p.D128H(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GGCGCTGCTTGATTTTGAGGA	0.537000													15	53					0	0	0.003163	0	0
GRB10	2887	broad.mit.edu	37	7	50660724	50660724	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:50660724C>A	ENST00000403097.1	-	18	2472	c.1692G>T	c.(1690-1692)ctG>ctT	p.L564L	GRB10_ENST00000357271.5_Silent_p.L524L|GRB10_ENST00000439599.1_Silent_p.L564L|GRB10_ENST00000335866.3_Silent_p.L512L|GRB10_ENST00000401949.1_Silent_p.L570L|GRB10_ENST00000398812.2_Silent_p.L570L|GRB10_ENST00000402497.1_Silent_p.L512L|GRB10_ENST00000406641.1_Silent_p.L512L|GRB10_ENST00000398810.2_Silent_p.L512L|GRB10_ENST00000402578.1_Silent_p.L512L|GRB10_ENST00000407526.1_Silent_p.L512L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	570	SH2.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	p.L570L(1)|p.L564L(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AAAAGTCAACCAGCTGGATCA	0.532000									Russell-Silver syndrome				28	81					1.2476e-16	1.81827e-16	0.006320	1	0
LCA5L	150082	broad.mit.edu	37	21	40778136	40778136	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr21:40778136C>G	ENST00000358268.2	-	10	2213	c.1685G>C	c.(1684-1686)aGa>aCa	p.R562T	LCA5L_ENST00000380671.2_Missense_Mutation_p.R562T|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.R562T|LCA5L_ENST00000495240.1_5'UTR			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	562								p.R562T(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CATTTCCTCTCTGTTACTGAG	0.468000													11	138					0	0	0.000978	0	0
LDHB	3945	broad.mit.edu	37	12	21788509	21788509	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:21788509C>T	ENST00000396076.1	-	8	1304	c.972G>A	c.(970-972)ctG>ctA	p.L324L	LDHB_ENST00000350669.1_Silent_p.L324L	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	324					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	p.L324L(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	GGATGTCCCACAGGGTATCTG	0.438000													19	88					0	0	0.001882	0	0
ZEB1	6935	broad.mit.edu	37	10	31608219	31608219	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:31608219A>G	ENST00000361642.5	+	1	119	c.56A>G	c.(55-57)aAc>aGc	p.N19S	ZEB1_ENST00000542815.3_Missense_Mutation_p.N19S|ZEB1_ENST00000559858.1_3'UTR|ZEB1-AS1_ENST00000605946.1_RNA|ZEB1-AS1_ENST00000606286.1_RNA|ZEB1_ENST00000320985.10_Missense_Mutation_p.N19S|ZEB1_ENST00000560721.2_Missense_Mutation_p.N19S|ZEB1-AS1_ENST00000423714.1_RNA	NM_001174093.1|NM_001174095.1|NM_001174096.1|NM_030751.5	NP_001167564.1|NP_001167566.1|NP_001167567.1|NP_110378.3	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	19					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	p.N19S(1)		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)				CGGCGCAATAACGGTGAGTgg	0.711000													6	29					0	0	0.003080	0	0
XKR7	343702	broad.mit.edu	37	20	30585071	30585071	+	Silent	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:30585071G>C	ENST00000217299.3	+	3	1725	c.1551G>C	c.(1549-1551)cgG>cgC	p.R517R		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	517						integral to membrane		p.R517R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCACCTTGCGGACAGAGGGGC	0.662000													5	57					0	0	0.001168	0	0
CEP164	22897	broad.mit.edu	37	11	117242006	117242006	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:117242006A>T	ENST00000278935.3	+	9	1123	c.976A>T	c.(976-978)Aat>Tat	p.N326Y	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	326					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		p.N326Y(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GATTTGCAGGAATCTGGTGAC	0.527000													24	90					0	0	0.003330	0	0
KCNMA1	3778	broad.mit.edu	37	10	78771761	78771761	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:78771761C>T	ENST00000286627.5	-	18	3008	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	KCNMA1_ENST00000372440.1_Missense_Mutation_p.D686N|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D686N|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D686N|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D690N|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D686N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D686N|KCNMA1_ENST00000286628.8_Missense_Mutation_p.D686N	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	686					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.D690N(1)|p.D686N(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTTTTGGGATCTGTGATGTCA	0.418000													4	85					0	0	0.000602	0	0
CDH11	1009	broad.mit.edu	37	16	64981653	64981653	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:64981653C>A	ENST00000268603.4	-	13	2859	c.2244G>T	c.(2242-2244)agG>agT	p.R748S	CDH11_ENST00000566827.1_Missense_Mutation_p.R622S|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	748					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R748S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCACTGAGCCCCTGCCTTCAT	0.507000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			7	62					5.4927e-09	7.22151e-09	0.004482	1	0
NALCN	259232	broad.mit.edu	37	13	101707770	101707770	+	Silent	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:101707770A>T	ENST00000251127.6	-	44	5175	c.5094T>A	c.(5092-5094)tcT>tcA	p.S1698S	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1698						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.S1698S(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGCACACGACAGATTTCATGG	0.502000													18	207					0	0	0.006122	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122334	18122334	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:18122334C>T	ENST00000340650.3	-	1	517	c.504G>A	c.(502-504)ggG>ggA	p.G168G		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	168					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G168G(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGGCAGCGTCCCCCTTCTCTC	0.582000													5	50					0	0	0.000602	0	0
EPHA10	284656	broad.mit.edu	37	1	38188793	38188793	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:38188793C>A	ENST00000373048.4	-	10	1879	c.1880G>T	c.(1879-1881)gGg>gTg	p.G627V	EPHA10_ENST00000540011.1_Missense_Mutation_p.G122V|EPHA10_ENST00000330210.7_Missense_Mutation_p.G122V|EPHA10_ENST00000427468.2_Missense_Mutation_p.G627V|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	627						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.G628V(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGCAGGTCCCCACAGCTCTG	0.607000													5	43					4.096e-09	5.41877e-09	0.001168	1	0
KEAP1	9817	broad.mit.edu	37	19	10599996	10599996	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:10599996C>A	ENST00000171111.5	-	5	2127	c.1580G>T	c.(1579-1581)gGt>gTt	p.G527V	KEAP1_ENST00000393623.2_Missense_Mutation_p.G527V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G527F(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CTGGTCCTGACCATCATAGCC	0.582000													8	20					0.000442599	0.000493275	0.006214	1	0
CDH9	1007	broad.mit.edu	37	5	26890652	26890652	+	Silent	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:26890652A>T	ENST00000231021.4	-	8	1447	c.1275T>A	c.(1273-1275)acT>acA	p.T425T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	425	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T425T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGTCCATATCAGTATGCCGAT	0.383000													38	76					0	0	0.008740	0	0
HECW2	57520	broad.mit.edu	37	2	197184360	197184360	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:197184360A>T	ENST00000260983.2	-	9	1436	c.1254T>A	c.(1252-1254)gaT>gaA	p.D418E	HECW2_ENST00000409111.1_Missense_Mutation_p.D62E	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	418					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.D418E(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CATCTAAGTAATCATTGAGTG	0.512000													8	48					0	0	0.006214	0	0
HOXD1	3231	broad.mit.edu	37	2	177054863	177054863	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:177054863C>G	ENST00000331462.4	+	2	1203	c.980C>G	c.(979-981)cCt>cGt	p.P327R		NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	327						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P327R(1)		kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		TCCCAAGAGCCTTCGTGAGGC	0.587000													4	40					0	0	0.009096	0	0
COLEC11	78989	broad.mit.edu	37	2	3685139	3685139	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:3685139A>G	ENST00000403096.3	+	3	632	c.141A>G	c.(139-141)aaA>aaG	p.K47K	COLEC11_ENST00000236693.7_Silent_p.K70K|COLEC11_ENST00000418971.2_Silent_p.K87K|COLEC11_ENST00000382062.2_Intron|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402794.1_Silent_p.K23K|COLEC11_ENST00000402922.1_Intron|COLEC11_ENST00000349077.4_Silent_p.K73K	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	73						collagen	mannose binding	p.K70K(1)|p.K87K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TGGGGGACAAAGGACAGAAAG	0.517000													14	67					0	0	0.004007	0	0
FAM47A	158724	broad.mit.edu	37	X	34150217	34150217	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:34150217T>C	ENST00000346193.3	-	1	230	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	60								p.Y60C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CGGACAGCCGTAGCGGAAGTC	0.562000													15	79					0	0	0.003163	0	0
PROC	5624	broad.mit.edu	37	2	128179008	128179008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:128179008C>T	ENST00000453608.2	+	3	291	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	PROC_ENST00000409048.1_Nonsense_Mutation_p.Q74*|PROC_ENST00000234071.3_Nonsense_Mutation_p.Q74*|PROC_ENST00000422777.3_Nonsense_Mutation_p.Q74*			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	74					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	p.Q74*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GGAAATTTTCCAAAATGTGGA	0.582000													4	28					0	0	0.009096	0	0
ATP2B4	493	broad.mit.edu	37	1	203652495	203652495	+	Silent	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:203652495C>G	ENST00000357681.5	+	2	1285	c.162C>G	c.(160-162)ctC>ctG	p.L54L	ATP2B4_ENST00000391954.2_Silent_p.L54L|ATP2B4_ENST00000341360.2_Silent_p.L54L|ATP2B4_ENST00000367219.3_Silent_p.L54L|ATP2B4_ENST00000367218.3_Silent_p.L54L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	54					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.L54L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TACAGAATCTCTGCAGTAGAC	0.488000													16	109					0	0	0.004990	0	0
SMARCA2	6595	broad.mit.edu	37	9	2084172	2084172	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:2084172A>G	ENST00000382203.1	+	17	2711	c.2502A>G	c.(2500-2502)atA>atG	p.I834M	SMARCA2_ENST00000382194.1_Missense_Mutation_p.I834M|SMARCA2_ENST00000349721.2_Missense_Mutation_p.I834M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.I834M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	834	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.I830M(1)|p.I834M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGTATATTATAAAAGACAAGC	0.403000													7	21					0	0	0.003080	0	0
CACNA2D1	781	broad.mit.edu	37	7	81714110	81714110	+	Silent	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:81714110G>C	ENST00000356860.3	-	7	971	c.633C>G	c.(631-633)gcC>gcG	p.A211A	CACNA2D1_ENST00000356253.5_Silent_p.A211A|CACNA2D1_ENST00000423588.1_Silent_p.A211A	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	211						voltage-gated calcium channel complex	metal ion binding	p.A211A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTAGGCCAGTGGCACTGCCAA	0.423000													10	69					0	0	0.008291	0	0
RTF1	23168	broad.mit.edu	37	15	41750015	41750015	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:41750015G>A	ENST00000389629.4	+	4	615	c.603G>A	c.(601-603)gaG>gaA	p.E201E		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	201	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	p.E76E(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGATGACAGAGAAAGAGAGAG	0.512000													9	87					0	0	0.004482	0	0
GDF10	2662	broad.mit.edu	37	10	48429294	48429294	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:48429294G>C	ENST00000224605.2	-	2	857	c.592C>G	c.(592-594)Cgc>Ggc	p.R198G		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	198					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R198G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CACAGGCCGCGCGGTGGGGGC	0.721000													6	31					0	0	0.003080	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887627	30887627	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:30887627G>A	ENST00000392772.2	-	11	1129	c.852C>T	c.(850-852)ccC>ccT	p.P284P	SEC14L4_ENST00000540456.1_Silent_p.P323P|SEC14L4_ENST00000381982.3_Silent_p.P338P|SEC14L4_ENST00000255858.7_Silent_p.P338P			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	338	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity	p.P338P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGCGCTGGCTGGGCAGCACCT	0.582000													18	68					0	0	0.008871	0	0
PGM5	5239	broad.mit.edu	37	9	71098938	71098938	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:71098938G>A	ENST00000396396.1	+	9	1682	c.1453G>A	c.(1453-1455)Gtg>Atg	p.V485M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	485					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.V485M(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CGTGGACCCTGTGGATGGCAC	0.512000													8	98					0	0	0.004482	0	0
C4orf40	401137	broad.mit.edu	37	4	71024466	71024466	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:71024466C>T	ENST00000344526.5	+	3	686	c.497C>T	c.(496-498)gCt>gTt	p.A166V	C4orf40_ENST00000502294.1_Missense_Mutation_p.A166V|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	166	Ala-rich.					extracellular region		p.A166V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTGTTGGAGCTGAGCCTGCT	0.632000													4	14					0	0	0.009096	0	0
PLCH1	23007	broad.mit.edu	37	3	155212152	155212152	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:155212152G>A	ENST00000460012.1	-	16	2316	c.1959C>T	c.(1957-1959)ccC>ccT	p.P653P	PLCH1_ENST00000334686.6_Silent_p.P653P|PLCH1_ENST00000447496.2_Silent_p.P671P|PLCH1_ENST00000494598.1_Silent_p.P671P|PLCH1_ENST00000414191.1_Silent_p.P653P|PLCH1_ENST00000340059.7_Silent_p.P671P			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	671	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P653P(1)|p.P671P(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGTTCCAGTAGGGGAGAGGGT	0.463000													13	54					0	0	0.001855	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528571	6528571	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:6528571G>A	ENST00000377748.1	-	21	3053	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	PLEKHG5_ENST00000544978.1_Silent_p.F775F|PLEKHG5_ENST00000537245.1_Silent_p.F854F|PLEKHG5_ENST00000340850.5_Silent_p.F775F|PLEKHG5_ENST00000400915.3_Silent_p.F831F|PLEKHG5_ENST00000400913.1_Silent_p.F775F|PLEKHG5_ENST00000377732.1_Silent_p.F812F|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377737.2_Silent_p.F775F|PLEKHG5_ENST00000377728.3_Silent_p.F775F|PLEKHG5_ENST00000377725.1_Silent_p.F775F|PLEKHG5_ENST00000535355.1_Silent_p.F844F	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	831					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.F852F(1)		liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GACCGCTGTCGAACTCGGGGG	0.647000													7	41					0	0	0.003080	0	0
MRPL16	54948	broad.mit.edu	37	11	59573990	59573990	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:59573990C>G	ENST00000300151.4	-	4	799	c.586G>C	c.(586-588)Gag>Cag	p.E196Q		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	196							rRNA binding	p.E196Q(1)		central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						CGCATCTTCTCTAGAGTCCCG	0.512000													15	137					0	0	0.002450	0	0
HYDIN	54768	broad.mit.edu	37	16	71163573	71163573	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:71163573G>C	ENST00000393567.2	-	9	1347	c.1197C>G	c.(1195-1197)ttC>ttG	p.F399L	HYDIN_ENST00000541601.1_Missense_Mutation_p.F416L|HYDIN_ENST00000538248.1_Missense_Mutation_p.F426L|HYDIN_ENST00000448691.1_Missense_Mutation_p.F399L|HYDIN_ENST00000393550.2_Missense_Mutation_p.F399L|HYDIN_ENST00000321489.5_Missense_Mutation_p.F399L|HYDIN_ENST00000448089.2_Missense_Mutation_p.F399L|HYDIN_ENST00000288168.10_Missense_Mutation_p.F416L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	399								p.F399L(4)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTTATTGAAGAACAGCTTGC	0.463000													13	31					0	0	0.002450	0	0
POLR3D	661	broad.mit.edu	37	8	22106630	22106630	+	Silent	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:22106630A>T	ENST00000397802.4	+	6	944	c.729A>T	c.(727-729)ccA>ccT	p.P243P	POLR3D_ENST00000306433.4_Silent_p.P243P			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	243					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.P243P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGAAGACTCCAGGCCTCCCGA	0.577000													6	30					0	0	0.001168	0	0
RAD21	5885	broad.mit.edu	37	8	117859755	117859755	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:117859755C>T	ENST00000297338.2	-	14	2167	c.1880G>A	c.(1879-1881)aGg>aAg	p.R627K	RAD21_ENST00000518055.1_Missense_Mutation_p.R172K|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron|RAD21_ENST00000523986.1_Missense_Mutation_p.R131K|RAD21_ENST00000517749.1_Missense_Mutation_p.R65K	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	627					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	p.R627K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AATATGGAACCTTGGTCCAGG	0.443000													14	105					0	0	0.002450	0	0
IL6R	3570	broad.mit.edu	37	1	154422427	154422427	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:154422427G>C	ENST00000368485.3	+	8	1474	c.1037G>C	c.(1036-1038)aGa>aCa	p.R346T	IL6R_ENST00000344086.4_Missense_Mutation_p.R346T|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	346					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	p.R346T(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATTCTCTTCAGAGATTCTGCA	0.438000													7	64					0	0	0.006214	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458126	45458126	+	RNA	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:45458126C>A	ENST00000548424.1	+	0	448																											GTGTTCCTATCAGGGTAGGAA	0.478000													8	43					0.00448238	0.00485286	0.004482	1	0
LILRA1	11024	broad.mit.edu	37	19	55106662	55106662	+	Silent	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:55106662C>G	ENST00000453777.1	+	5	626	c.456C>G	c.(454-456)ggC>ggG	p.G152G	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Silent_p.G152G|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	152	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.G152G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGCATTTGGCAGCTTCATTC	0.567000													34	127					0	0	0.003271	0	0
NLRC4	58484	broad.mit.edu	37	2	32477605	32477605	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:32477605C>T	ENST00000404025.2	-	4	633	c.145G>A	c.(145-147)Gat>Aat	p.D49N	NLRC4_ENST00000342905.6_Missense_Mutation_p.D49N|NLRC4_ENST00000402280.1_Missense_Mutation_p.D49N|NLRC4_ENST00000360906.5_Missense_Mutation_p.D49N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	49	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.D49N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTAGCAGCATCCTGCTCCACC	0.403000													25	140					0	0	0.003330	0	0
ESX1	80712	broad.mit.edu	37	X	103498885	103498885	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:103498885C>T	ENST00000372588.4	-	2	539	c.456G>A	c.(454-456)caG>caA	p.Q152Q		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	152					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q152Q(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TCTCTAGCTCCTGCAGCTGAA	0.637000													17	58					0	0	0.006122	0	0
ACTG2	72	broad.mit.edu	37	2	74146569	74146569	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:74146569C>A	ENST00000409624.1	+	10	1641	c.998C>A	c.(997-999)cCc>cAc	p.P333H	ACTG2_ENST00000345517.3_Missense_Mutation_p.P333H|ACTG2_ENST00000409731.3_Missense_Mutation_p.P290H			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	333					muscle contraction	cytoskeleton|cytosol	ATP binding	p.P333H(1)		large_intestine(3)|lung(14)|skin(1)	18						ATTATTGCTCCCCCAGAGCGG	0.502000													24	90					3.7963e-18	5.57878e-18	0.003330	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18955953	18955953	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:18955953G>C	ENST00000302797.3	-	1	603	c.379C>G	c.(379-381)Ccc>Gcc	p.P127A	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	127					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P127A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TACCAGATGGGCCACAGGACG	0.592000													6	94					0	0	0.001168	0	0
OCA2	4948	broad.mit.edu	37	15	28231772	28231772	+	Silent	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:28231772T>A	ENST00000354638.3	-	12	1355	c.1200A>T	c.(1198-1200)atA>atT	p.I400I	OCA2_ENST00000382996.2_Silent_p.I400I|OCA2_ENST00000353809.5_Silent_p.I376I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	400					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.I400I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTTCTGAAAATATGGCTACTA	0.318000									Oculocutaneous Albinism				11	163					0	0	0.001368	0	0
DNM3	26052	broad.mit.edu	37	1	171956843	171956843	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:171956843G>C	ENST00000358155.4	+	3	459	c.283G>C	c.(283-285)Gat>Cat	p.D95H	DNM3_ENST00000520906.1_Missense_Mutation_p.D95H|DNM3_ENST00000367733.2_Missense_Mutation_p.D95H|DNM3_ENST00000367731.1_Missense_Mutation_p.D95H|DNM3_ENST00000355305.5_Missense_Mutation_p.D95H	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	95					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	p.D95H(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TACAGATTTTGATGAAGTTCG	0.353000													56	228					0	0	0.003610	0	0
LSAMP	4045	broad.mit.edu	37	3	115560780	115560780	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:115560780C>T	ENST00000490035.1	-	6	1330	c.831G>A	c.(829-831)gtG>gtA	p.V277V	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Silent_p.V274V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	277	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane		p.V277V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TGACGTTGGTCACCGTCAGGG	0.498000													7	74					0	0	0.001984	0	0
APOB	338	broad.mit.edu	37	2	21250752	21250752	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:21250752A>T	ENST00000233242.1	-	14	2142	c.2015T>A	c.(2014-2016)aTg>aAg	p.M672K	APOB_ENST00000399256.4_Missense_Mutation_p.M672K	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	672	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.M672K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGTTTTCAGCATGCTTTCTTT	0.418000													16	88					0	0	0.004007	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74742846	74742846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:74742846C>T	ENST00000541184.1	-	1	491	c.14G>A	c.(13-15)tGg>tAg	p.W5*	ZDHHC15_ENST00000373361.3_Nonsense_Mutation_p.W5*|ZDHHC15_ENST00000373367.3_Nonsense_Mutation_p.W5*	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	5						integral to membrane	zinc ion binding	p.W5*(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AGCCATCTTCCAGCCTCGCCG	0.662000													8	10					0	0	0.004482	0	0
TBX4	9496	broad.mit.edu	37	17	59560493	59560493	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:59560493C>A	ENST00000393853.4	+	9	1420	c.1257C>A	c.(1255-1257)aaC>aaA	p.N419K	TBX4_ENST00000589449.1_Intron|TBX4_ENST00000240335.1_Missense_Mutation_p.N418K			P57082	TBX4_HUMAN	T-box 4	418					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.N418K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGAGCTGTAACATGTGGACTT	0.607000													8	50					0.000157383	0.000179746	0.003080	1	0
NR2E1	7101	broad.mit.edu	37	6	108499305	108499305	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:108499305C>G	ENST00000368986.4	+	5	1210	c.502C>G	c.(502-504)Cat>Gat	p.H168D	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.H205D	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	168					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.H168D(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCAGTACCCCCATGAAGTGAA	0.458000													27	71					0	0	0.006320	0	0
STRC	161497	broad.mit.edu	37	15	43910166	43910166	+	Silent	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:43910166C>G	ENST00000450892.2	-	2	530	c.453G>C	c.(451-453)ggG>ggC	p.G151G	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	151					sensory perception of sound	cell surface		p.G151G(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TAGGGGGGCCCCCAGGAACTA	0.637000													9	105					0	0	0.006214	0	0
NAP1L3	4675	broad.mit.edu	37	X	92926978	92926978	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:92926978G>A	ENST00000373079.3	-	1	1589	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	442					nucleosome assembly	chromatin assembly complex		p.F442F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GAGGACTAAAGAAGTTGAAGA	0.423000													3	18					0	0	0.004672	0	0
PGF	5228	broad.mit.edu	37	14	75420616	75420616	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:75420616C>T	ENST00000555567.1	-	2	650	c.109G>A	c.(109-111)Gag>Aag	p.E37K	PGF_ENST00000405431.2_Missense_Mutation_p.E37K|PGF_ENST00000238607.6_Missense_Mutation_p.E36K|PGF_ENST00000553716.1_Missense_Mutation_p.E37K	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN	placental growth factor	37					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding	p.E37K(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		CCTTCCACCTCTGACGAGCCG	0.607000													6	44					0	0	0.001168	0	0
CRELD2	79174	broad.mit.edu	37	22	50320944	50320944	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:50320944G>A	ENST00000404488.3	+	11	1333	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	CRELD2_ENST00000403427.3_Missense_Mutation_p.E323K|CRELD2_ENST00000328268.4_Missense_Mutation_p.E351K|CRELD2_ENST00000407217.3_Missense_Mutation_p.E319K	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	351						endoplasmic reticulum|extracellular region	calcium ion binding	p.E351K(1)|p.E400K(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCTCCCGCGAAGACCTGTA	0.557000													15	141					0	0	0.002450	0	0
ZNF32	7580	broad.mit.edu	37	10	44139648	44139648	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:44139648C>T	ENST00000395797.1	-	3	860	c.672G>A	c.(670-672)aaG>aaA	p.K224K	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Silent_p.K224K	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.K224K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TGTGGAAACTCTTCCTGCACT	0.502000													5	70					0	0	0.001984	0	0
FAT3	120114	broad.mit.edu	37	11	92086967	92086967	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:92086967T>C	ENST00000298047.6	+	1	1706	c.1689T>C	c.(1687-1689)aaT>aaC	p.N563N	FAT3_ENST00000525166.1_Silent_p.N413N|FAT3_ENST00000541502.1_Silent_p.N563N|FAT3_ENST00000409404.2_Silent_p.N563N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	563	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.N563N(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGAGGTCAATGTGACTATTC	0.433000										TCGA Ovarian(4;0.039)			11	107					0	0	0.008291	0	0
PCDH15	65217	broad.mit.edu	37	10	55617003	55617003	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:55617003C>T	ENST00000373965.2	-	29	4153	c.3759G>A	c.(3757-3759)ctG>ctA	p.L1253L	PCDH15_ENST00000395438.1_Silent_p.L1246L|PCDH15_ENST00000414778.1_Silent_p.L1251L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Silent_p.L1246L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Silent_p.L1175L|PCDH15_ENST00000395445.1_Silent_p.L1253L|PCDH15_ENST00000320301.6_Silent_p.L1246L|PCDH15_ENST00000395433.1_Silent_p.L1224L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Silent_p.L1246L|PCDH15_ENST00000409834.1_Silent_p.L857L|PCDH15_ENST00000395432.2_Silent_p.L1209L|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1246	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.L1251L(2)|p.L1246L(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTGCATATCCAGCTGATTGA	0.333000										HNSCC(58;0.16)			7	58					0	0	0.004482	0	0
OGDHL	55753	broad.mit.edu	37	10	50966631	50966631	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:50966631T>A	ENST00000374103.4	-	2	93	c.8A>T	c.(7-9)cAg>cTg	p.Q3L	OGDHL_ENST00000419399.1_Missense_Mutation_p.Q3L|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	3					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.Q3L(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CAGCCTCAGCTGACTCATTCT	0.602000													4	24					0	0	0.001168	0	0
MYT1L	23040	broad.mit.edu	37	2	1926275	1926275	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:1926275C>A	ENST00000399161.2	-	10	2013	c.1266G>T	c.(1264-1266)gaG>gaT	p.E422D	MYT1L_ENST00000428368.2_Missense_Mutation_p.E422D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	422					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E422D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCGAACACCTCTTCAGACC	0.567000													18	88					3.32936e-07	4.15094e-07	0.006122	1	0
TCHHL1	126637	broad.mit.edu	37	1	152059439	152059439	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:152059439C>T	ENST00000368806.1	-	3	783	c.719G>A	c.(718-720)aGa>aAa	p.R240K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	240							calcium ion binding	p.R240K(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTTTGCTCTCTGGCTGGTTC	0.458000													17	197					0	0	0.004990	0	0
OR4N5	390437	broad.mit.edu	37	14	20612593	20612593	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:20612593G>A	ENST00000333629.1	+	1	699	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K233R(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTGAAGGAAAGAGCAAGGCTA	0.498000													37	124					0	0	0.004289	0	0
CDCA7	83879	broad.mit.edu	37	2	174231037	174231037	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:174231037G>A	ENST00000306721.3	+	8	1165	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	CDCA7_ENST00000410019.3_Silent_p.Q233Q|CDCA7_ENST00000347703.3_Silent_p.Q275Q|CDCA7_ENST00000410101.3_Silent_p.Q310Q|CDCA7_ENST00000392567.2_Intron	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	275	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q354Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AATGCCGTCAGAAGACTATTG	0.433000													9	60					0	0	0.004482	0	0
SDK1	221935	broad.mit.edu	37	7	4150307	4150307	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:4150307G>A	ENST00000404826.2	+	23	3476	c.3337G>A	c.(3337-3339)Ggc>Agc	p.G1113S	SDK1_ENST00000389531.3_Missense_Mutation_p.G1113S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1113	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.G1113S(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGAGCTATCGGCGACGAGGA	0.572000													4	38					0	0	0.000602	0	0
QARS	5859	broad.mit.edu	37	3	49135440	49135440	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:49135440G>A	ENST00000306125.6	-	23	2599	c.2262C>T	c.(2260-2262)gaC>gaT	p.D754D	QARS_ENST00000414533.1_Silent_p.D743D			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	754					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	p.D754D(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CCTGATGGCTGTCTGGATCCA	0.527000													11	99					0	0	0.001368	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746563	77746563	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:77746563C>A	ENST00000409088.3	-	3	846	c.432G>T	c.(430-432)aaG>aaT	p.K144N	LRRTM4_ENST00000409093.1_Missense_Mutation_p.K144N|LRRTM4_ENST00000409884.1_Missense_Mutation_p.K144N|LRRTM4_ENST00000409911.1_Missense_Mutation_p.K145N|LRRTM4_ENST00000409282.1_Missense_Mutation_p.K145N	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	144						integral to membrane		p.K144N(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATGTCTGAAGCTTATTGTAGG	0.373000													14	53					3.27435e-08	4.20083e-08	0.002450	1	0
PFKL	5211	broad.mit.edu	37	21	45736374	45736374	+	Silent	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr21:45736374G>C	ENST00000403390.1	+	10	1044	c.1044G>C	c.(1042-1044)cgG>cgC	p.R348R	PFKL_ENST00000349048.4_Silent_p.R301R			P17858	K6PL_HUMAN	phosphofructokinase, liver	301					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	p.R348R(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ACGTGCAGCGGGGAGGGACGC	0.662000													4	26					0	0	0.009096	0	0
SEL1L2	80343	broad.mit.edu	37	20	13845825	13845825	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:13845825C>A	ENST00000284951.5	-	17	1707	c.1633G>T	c.(1633-1635)Gct>Tct	p.A545S	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.E489D			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	545						integral to membrane	binding	p.A545S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TGAATGGCAGCTCGATTCCAT	0.418000													12	79					7.03913e-09	9.23178e-09	0.001368	1	0
EPG5	57724	broad.mit.edu	37	18	43532389	43532389	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr18:43532389G>A	ENST00000282041.5	-	3	1263	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	410					autophagy			p.S410L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTGAATTGCTGAAGATCTCAG	0.418000													6	45					0	0	0.001984	0	0
L1CAM	3897	broad.mit.edu	37	X	153130793	153130793	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:153130793C>A	ENST00000370060.1	-	21	2899	c.2710G>T	c.(2710-2712)Ggg>Tgg	p.G904W	L1CAM_ENST00000361699.4_Missense_Mutation_p.G904W|L1CAM_ENST00000370055.1_Missense_Mutation_p.G899W|L1CAM_ENST00000361981.3_Missense_Mutation_p.G899W|L1CAM_ENST00000370057.3_Missense_Mutation_p.G904W|L1CAM_ENST00000543994.1_Missense_Mutation_p.G906W|L1CAM_ENST00000538883.1_Missense_Mutation_p.G906W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	904	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.G904W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCGGGCCCCGATCCTCGC	0.657000													10	42					3.86212e-05	4.49803e-05	0.008291	1	0
ATG3	64422	broad.mit.edu	37	3	112277264	112277264	+	Splice_Site	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:112277264C>G	ENST00000402314.2	-	2	460	c.72_splice	c.e2-1	p.E25_splice	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_Splice_Site_p.E25_splice			Q9NT62	ATG3_HUMAN	autophagy related 3	25					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding	p.E25Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						AACTTTGATTCCTAAAAAAAG	0.328000													7	162					0	0	0.004482	0	0
ZNF25	219749	broad.mit.edu	37	10	38241506	38241506	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:38241506C>A	ENST00000302609.7	-	6	1132	c.920G>T	c.(919-921)aGt>aTt	p.S307I	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S307I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TCCTGTGTGACTTCTCTGATG	0.433000													10	54					2.17888e-05	2.55164e-05	0.006214	1	0
GABRR2	2570	broad.mit.edu	37	6	89977501	89977501	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:89977501C>G	ENST00000402938.3	-	6	766	c.633G>C	c.(631-633)aaG>aaC	p.K211N	GABRR2_ENST00000602399.1_Missense_Mutation_p.K236N			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	236					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.K211N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		CATCCCCATTCTTCCAGTACA	0.423000													7	139					0	0	0.001984	0	0
MYH6	4624	broad.mit.edu	37	14	23872645	23872645	+	Silent	SNP	C	C	T	rs178646		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:23872645C>T	ENST00000405093.3	-	10	880	c.810G>A	c.(808-810)gaG>gaA	p.E270E	MYH6_ENST00000356287.3_Silent_p.E270E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	270	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.E270E(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCCGGGACTTCTCCAGCAGGT	0.567000													17	135					0	0	0.007413	0	0
ZIC4	84107	broad.mit.edu	37	3	147114217	147114217	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:147114217G>C	ENST00000383075.3	-	3	622	c.110C>G	c.(109-111)gCc>gGc	p.A37G	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.A87G|ZIC4_ENST00000473123.1_Missense_Mutation_p.A37G|ZIC4_ENST00000425731.3_Missense_Mutation_p.A75G|ZIC4_ENST00000484399.1_Missense_Mutation_p.A37G	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	37						nucleus	DNA binding|zinc ion binding	p.A37G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGGGCTGGAGGCGGCGGTGAG	0.672000													14	37					0	0	0.006122	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126665	37126665	+	Silent	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:37126665A>T	ENST00000336755.5	+	2	442	c.336A>T	c.(334-336)gcA>gcT	p.A112A	ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000322831.6_Silent_p.A111A	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	112							nucleic acid binding|zinc ion binding	p.A112A(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GAGTTCAAGCACAAGAAAATG	0.383000													11	99					0	0	0.001855	0	0
CCDC136	64753	broad.mit.edu	37	7	128454755	128454755	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:128454755C>G	ENST00000297788.4	+	15	3194	c.2827C>G	c.(2827-2829)Cag>Gag	p.Q943E	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	943						integral to membrane	protein binding	p.Q943E(2)|p.Q1059E(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CATGGATGAGCAGGGGCGGCT	0.597000													10	35					0	0	0.008291	0	0
HAUS4	54930	broad.mit.edu	37	14	23421778	23421778	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:23421778C>A	ENST00000206474.7	-	3	422	c.170G>T	c.(169-171)aGc>aTc	p.S57I	HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000347758.2_Missense_Mutation_p.S57I|HAUS4_ENST00000342454.8_Missense_Mutation_p.S57I|RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000555367.1_Missense_Mutation_p.S57I|HAUS4_ENST00000541587.1_Missense_Mutation_p.S57I|HAUS4_ENST00000397409.4_Missense_Mutation_p.S57I|HAUS4_ENST00000490506.1_Intron|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000555986.1_Missense_Mutation_p.S57I|RP11-298I3.1_ENST00000548322.1_RNA			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	57					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.S57I(1)		breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TAGGGTGAGGCTTAAGCCACT	0.473000													26	77					3.6726e-16	5.316e-16	0.003954	1	0
NALCN	259232	broad.mit.edu	37	13	101944443	101944443	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:101944443G>T	ENST00000251127.6	-	9	1026	c.945C>A	c.(943-945)aaC>aaA	p.N315K	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.N315K	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	315						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.N315K(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAATAAACACGTTCTGAAAAA	0.398000													5	28					0.000602214	0.000666962	0.000602	1	0
C10orf113	387638	broad.mit.edu	37	10	21415032	21415032	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:21415032C>G	ENST00000529198.1	-	2	273	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	C10orf113_ENST00000534331.1_Missense_Mutation_p.R63T|C10orf113_ENST00000377118.4_Missense_Mutation_p.R53T|NEBL_ENST00000417816.2_Intron	NM_001177483.1	NP_001170954.1	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	0								p.R53T(2)		endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						CTTCTCGGCTCTCCGTTCTGC	0.552000													14	50					0	0	0.003163	0	0
GGA1	26088	broad.mit.edu	37	22	38026076	38026076	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:38026076G>T	ENST00000406772.1	+	14	1663	c.1011G>T	c.(1009-1011)gcG>gcT	p.A337A	GGA1_ENST00000381756.5_Silent_p.A427A|GGA1_ENST00000337437.4_Silent_p.A377A|GGA1_ENST00000325180.8_Silent_p.A323A|GGA1_ENST00000343632.4_Silent_p.A410A	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	410	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	p.A410A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GACCCCCAGCGCAGACATCCC	0.667000													28	80					9.80776e-20	1.45133e-19	0.006320	1	0
SGOL2	151246	broad.mit.edu	37	2	201437658	201437658	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:201437658A>T	ENST00000357799.4	+	7	2687	c.2589A>T	c.(2587-2589)caA>caT	p.Q863H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	863					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.Q863H(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATGAATTTCAAACAGTTGATC	0.318000													17	148					0	0	0.004990	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917894	48917894	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:48917894C>T	ENST00000311378.4	+	2	1773	c.1245C>T	c.(1243-1245)gtC>gtT	p.V415V	WFIKKN2_ENST00000426127.1_Silent_p.V322V|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	415	BPTI/Kunitz inhibitor 2.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	p.V415V(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGTCCTTTGTCTATGGTGGCT	0.672000													8	49					0	0	0.003080	0	0
OR4S1	256148	broad.mit.edu	37	11	48328183	48328183	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:48328183C>A	ENST00000319988.1	+	1	409	c.409C>A	c.(409-411)Cgg>Agg	p.R137R		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R137R(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CATGGATTGCCGGAAGTGTGG	0.577000													23	65					3.08376e-08	3.97072e-08	0.003330	1	0
NDC80	10403	broad.mit.edu	37	18	2599102	2599102	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr18:2599102G>C	ENST00000261597.4	+	12	1488	c.1306G>C	c.(1306-1308)Gac>Cac	p.D436H		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	436	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	p.D436H(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAAAGGTTATGACTTTGAAAT	0.338000													8	49					0	0	0.003080	0	0
DYRK1B	9149	broad.mit.edu	37	19	40320990	40320990	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:40320990C>A	ENST00000601972.1	-	4	627	c.397G>T	c.(397-399)Gat>Tat	p.D133Y	DYRK1B_ENST00000597639.1_Intron|DYRK1B_ENST00000593685.1_Intron|DYRK1B_ENST00000348817.3_Intron|DYRK1B_ENST00000430012.2_Intron|DYRK1B_ENST00000323039.5_Intron			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	581	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGCCTTGGATCAGGGTGGTGG	0.592000													9	30					1.12685e-05	1.34035e-05	0.004482	1	0
B3GALNT1	8706	broad.mit.edu	37	3	160804096	160804096	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:160804096T>C	ENST00000392781.2	-	8	1194	c.447A>G	c.(445-447)ttA>ttG	p.L149L	B3GALNT1_ENST00000488170.1_Silent_p.L149L|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000320474.4_Silent_p.L149L|B3GALNT1_ENST00000392780.1_Silent_p.L149L|B3GALNT1_ENST00000473285.1_Silent_p.L149L|B3GALNT1_ENST00000392779.2_Silent_p.L149L	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	149					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.L149L(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TATATGTGTCTAAAAAATCTT	0.398000													3	84					0	0	0.004672	0	0
POC5	134359	broad.mit.edu	37	5	74990568	74990568	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:74990568G>C	ENST00000428202.2	-	6	791	c.602C>G	c.(601-603)gCa>gGa	p.A201G	POC5_ENST00000514838.2_Missense_Mutation_p.A173G|POC5_ENST00000380475.2_Missense_Mutation_p.A84G|POC5_ENST00000504862.1_5'UTR|POC5_ENST00000510798.1_Missense_Mutation_p.A84G|POC5_ENST00000446329.2_Missense_Mutation_p.A176G	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	201					cell cycle	centriole		p.A175G(1)|p.A201G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAAATGTGCTGCATGTTTTTC	0.323000													12	59					0	0	0.001368	0	0
RADIL	55698	broad.mit.edu	37	7	4917240	4917240	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:4917240C>A	ENST00000399583.3	-	2	718	c.531G>T	c.(529-531)acG>acT	p.T177T	RADIL_ENST00000536091.1_Silent_p.T177T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	177					cell adhesion|multicellular organismal development|signal transduction		protein binding	p.T177I(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCACCTGCCGTGATGGTGT	0.612000													13	45					7.93312e-07	9.75323e-07	0.002450	1	0
OR10K2	391107	broad.mit.edu	37	1	158390109	158390109	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:158390109G>T	ENST00000314902.2	-	1	547	c.548C>A	c.(547-549)cCt>cAt	p.P183H		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183N(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CTTGAGGACAGGAGCAATGTC	0.448000													8	72					0.000442599	0.000493275	0.006214	1	0
KCNN3	3782	broad.mit.edu	37	1	154842046	154842046	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:154842046A>G	ENST00000271915.3	-	1	710	c.395T>C	c.(394-396)cTc>cCc	p.L132P		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	137						integral to membrane	calmodulin binding	p.L132P(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GTGGTCATTGAGATTGAGCTG	0.662000													4	46					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179475105	179475105	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:179475105G>A	ENST00000589042.1	-	271	51372	c.51148C>T	c.(51148-51150)Cca>Tca	p.P17050S	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P8177S|TTN_ENST00000359218.5_Missense_Mutation_p.P8110S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P15409S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7985S|TTN_ENST00000342992.6_Missense_Mutation_p.P14482S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15409	Ig-like 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P14482S(2)|p.P8110S(1)|p.P8177S(1)|p.P7985S(1)		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)			TCTTTGCATGGTCCAGGTAGG	0.353000													17	83					0	0	0.004990	0	0
RIOK3	8780	broad.mit.edu	37	18	21044238	21044238	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr18:21044238G>A	ENST00000339486.3	+	4	1011	c.394G>A	c.(394-396)Gtt>Att	p.V132I	RIOK3_ENST00000577501.1_Missense_Mutation_p.V132I|RIOK3_ENST00000581585.1_Missense_Mutation_p.V116I	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	132					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	p.V132I(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGAAGATGAGGTTGACTGGCA	0.388000													9	41					0	0	0.006214	0	0
LEMD3	23592	broad.mit.edu	37	12	65639480	65639480	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:65639480C>T	ENST00000308330.2	+	11	2445	c.2419C>T	c.(2419-2421)Caa>Taa	p.Q807*		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	807	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	p.Q807*(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTGGCAATTCAAGAAGCAAT	0.328000													20	60					0	0	0.001882	0	0
CUL9	23113	broad.mit.edu	37	6	43167711	43167711	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:43167711G>A	ENST00000252050.4	+	14	3285	c.3201G>A	c.(3199-3201)atG>atA	p.M1067I	CUL9_ENST00000372647.2_Missense_Mutation_p.M1067I|CUL9_ENST00000354495.3_Missense_Mutation_p.M957I	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1067					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.M1067I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGGCCTCGATGCATAAGGACT	0.522000													7	68					0	0	0.004482	0	0
FYN	2534	broad.mit.edu	37	6	112041086	112041086	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:112041086C>T	ENST00000354650.3	-	4	775	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	FYN_ENST00000368678.4_Missense_Mutation_p.G57R|FYN_ENST00000538466.1_Missense_Mutation_p.G57R|FYN_ENST00000356013.2_Missense_Mutation_p.G57R|FYN_ENST00000368667.2_Missense_Mutation_p.G57R|FYN_ENST00000229471.4_Missense_Mutation_p.G57R|FYN_ENST00000229470.5_Missense_Mutation_p.G57R|FYN_ENST00000368682.3_Missense_Mutation_p.G57R	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	57					axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	p.G57W(2)|p.G57R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CCTTGGCCCCCGGCTGCGTGG	0.592000													6	57					0	0	0.001168	0	0
OR52B4	143496	broad.mit.edu	37	11	4389382	4389382	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:4389382G>T	ENST00000408920.2	-	1	234	c.144C>A	c.(142-144)atC>atA	p.I48I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I48I(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATAATGAAGATGAGCAGGC	0.527000													4	25					0.00909568	0.009748	0.009096	1	0
UNC45B	146862	broad.mit.edu	37	17	33482328	33482328	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:33482328T>A	ENST00000268876.5	+	7	750	c.653T>A	c.(652-654)cTg>cAg	p.L218Q	UNC45B_ENST00000591048.1_Missense_Mutation_p.L218Q|UNC45B_ENST00000378449.1_Missense_Mutation_p.L218Q|UNC45B_ENST00000433649.1_Missense_Mutation_p.L218Q|UNC45B_ENST00000394570.2_Missense_Mutation_p.L218Q	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	218					cell differentiation|muscle organ development	cytosol	binding	p.L218Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ACAGTGATTCTGCATGCAGTG	0.552000													18	72					0	0	0.006122	0	0
MAP2K5	5607	broad.mit.edu	37	15	68065081	68065081	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:68065081A>G	ENST00000178640.5	+	21	1860	c.1233A>G	c.(1231-1233)gaA>gaG	p.E411E	MAP2K5_ENST00000395476.2_Silent_p.E401E|MAP2K5_ENST00000340972.4_Silent_p.E221E|MAP2K5_ENST00000354498.5_Silent_p.E375E	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	411					nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E401E(1)|p.E411E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						CAGCACCTGAAGAATTGATGG	0.303000													4	63					0	0	0.000602	0	0
MUT	4594	broad.mit.edu	37	6	49403171	49403171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:49403171G>A	ENST00000274813.3	-	12	2249	c.2122C>T	c.(2122-2124)Cag>Tag	p.Q708*		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	708	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.Q708*(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAATACCTGAGGTGGTATC	0.388000													4	30					0	0	0.000602	0	0
MYO18A	399687	broad.mit.edu	37	17	27425944	27425944	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:27425944T>A	ENST00000527372.1	-	23	3860	c.3680A>T	c.(3679-3681)aAg>aTg	p.K1227M	MYO18A_ENST00000354329.4_Missense_Mutation_p.K1227M|MYO18A_ENST00000533112.1_Missense_Mutation_p.K1227M|MYO18A_ENST00000531253.1_Missense_Mutation_p.K1227M	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1227					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.K1227M(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCTTTGTTCTTCTTGATGTT	0.572000													21	104					0	0	0.003330	0	0
FCHSD1	89848	broad.mit.edu	37	5	141028826	141028826	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:141028826C>A	ENST00000435817.2	-	6	475	c.425G>T	c.(424-426)cGg>cTg	p.R142L	FCHSD1_ENST00000522126.1_Missense_Mutation_p.R66L|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R140L|FCHSD1_ENST00000519800.1_Missense_Mutation_p.R140L	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	142								p.R142L(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGCTCCCGGACAGACTG	0.597000													43	90					1.8453e-21	2.75367e-21	0.002522	1	0
CALD1	800	broad.mit.edu	37	7	134618226	134618226	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:134618226G>A	ENST00000361675.2	+	5	935	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	CALD1_ENST00000417172.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361388.2_Intron			Q05682	CALD1_HUMAN	caldesmon 1	236					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	p.E236K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GATCAGTTCAGAAGAGCCTAA	0.438000													3	26					0	0	0.009096	0	0
INTS1	26173	broad.mit.edu	37	7	1524941	1524941	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:1524941G>A	ENST00000389470.4	-	24	3626	c.3627C>T	c.(3625-3627)gcC>gcT	p.A1209A	INTS1_ENST00000404767.3_Silent_p.A1047A			Q8N201	INT1_HUMAN	integrator complex subunit 1	1047					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.A1209A(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCAGGGCCAGGGCTGTGGTGC	0.687000													4	28					0	0	0.001168	0	0
C4orf40	401137	broad.mit.edu	37	4	71024467	71024467	+	Silent	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:71024467T>G	ENST00000344526.5	+	3	687	c.498T>G	c.(496-498)gcT>gcG	p.A166A	C4orf40_ENST00000502294.1_Silent_p.A166A|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	166	Ala-rich.					extracellular region		p.A166V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGTTGGAGCTGAGCCTGCTG	0.627000													3	14					0	0	0.004672	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	64					0	0	0.001168	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108925	90108925	+	RNA	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:90108925C>A	ENST00000390271.2	+	0	216																											AGATCAAGCCCCAAAGCTCCT	0.527000													10	60					0.000978159	0.00107994	0.000978	1	0
MAST4	375449	broad.mit.edu	37	5	66458488	66458488	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:66458488C>T	ENST00000404260.3	+	28	4156	c.3848C>T	c.(3847-3849)aCc>aTc	p.T1283I	MAST4_ENST00000403666.1_Missense_Mutation_p.T1091I|MAST4_ENST00000403625.2_Missense_Mutation_p.T1280I|MAST4_ENST00000405643.1_Missense_Mutation_p.T1101I|MAST4_ENST00000261569.7_Missense_Mutation_p.T1086I			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1283						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.T1283I(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTACTCCACACCAGCCGAAGT	0.483000													9	86					0	0	0.006214	0	0
OR4N5	390437	broad.mit.edu	37	14	20612592	20612592	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:20612592A>G	ENST00000333629.1	+	1	698	c.698A>G	c.(697-699)aAg>aGg	p.K233R		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K233R(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCTGAAGGAAAGAGCAAGGCT	0.498000													36	124					0	0	0.003755	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916645	178916645	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:178916645G>T	ENST00000263967.3	+	2	189	c.32G>T	c.(31-33)tGg>tTg	p.W11L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	11					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.W11L(2)|p.L10_M16del(1)|p.E9_R19del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GGTGAACTGTGGGGCATCCAC	0.403000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			20	54					1.40151e-16	2.03978e-16	0.010504	1	0
COL11A1	1301	broad.mit.edu	37	1	103352612	103352612	+	Splice_Site	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:103352612C>A	ENST00000358392.2	-	63	4962	c.4644_splice	c.e63-1	p.G1549_splice	COL11A1_ENST00000370096.3_Splice_Site_p.G1537_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G1421_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1498_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1537	Nonhelical region (C-terminal).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.?(2)|p.G1537C(1)|p.G1549C(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGGTGGACCCTGTAAAGAA	0.343000													12	80					3.27435e-08	4.20083e-08	0.002450	1	0
PCDHB7	56129	broad.mit.edu	37	5	140552601	140552601	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:140552601G>A	ENST00000231137.3	+	1	359	c.185G>A	c.(184-186)cGg>cAg	p.R62Q		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		62	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R62Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGAGCCCGGGGAACTAGA	0.478000													20	60					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179441371	179441371	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:179441371T>A	ENST00000589042.1	-	325	69824	c.69600A>T	c.(69598-69600)aaA>aaT	p.K23200N	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14327N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14260N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K21559N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14135N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K20632N|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21559	Fibronectin type-III 68.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K20630N(1)|p.K14135N(1)|p.K20632N(1)|p.K14260N(1)|p.K14327N(1)		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)			GTCCTGTTACTTTGCACCTGA	0.463000													67	254					0	0	0.003610	0	0
INADL	10207	broad.mit.edu	37	1	62257096	62257096	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:62257096G>T	ENST00000371158.2	+	9	1259	c.1145G>T	c.(1144-1146)gGc>gTc	p.G382V	INADL_ENST00000316485.6_Missense_Mutation_p.G382V	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	382	PDZ 3.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.G382F(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGAATTGTTGGCTATGTTGGA	0.289000													17	61					1.99824e-07	2.5031e-07	0.004990	1	0
C1orf27	54953	broad.mit.edu	37	1	186375307	186375307	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:186375307G>A	ENST00000367470.3	+	11	1260	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	C1orf27_ENST00000419367.3_Missense_Mutation_p.E333K|C1orf27_ENST00000432021.3_Missense_Mutation_p.E342K|C1orf27_ENST00000287859.6_Missense_Mutation_p.E365K	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	365						integral to membrane	oxidoreductase activity|zinc ion binding	p.E365K(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						ATTTGACGATGAGTCAGCTGA	0.388000													6	179					0	0	0.001984	0	0
TBX21	30009	broad.mit.edu	37	17	45822274	45822274	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:45822274G>T	ENST00000177694.1	+	6	1361	c.1150G>T	c.(1150-1152)Gct>Tct	p.A384S		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	384					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.A384S(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGTTCCCCAGGCTTACTGGCT	0.617000													34	118					4.65686e-17	6.79633e-17	0.003755	1	0
ZFPL1	7542	broad.mit.edu	37	11	64854853	64854853	+	Missense_Mutation	SNP	G	G	A	rs139876978		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:64854853G>A	ENST00000294258.3	+	7	846	c.694G>A	c.(694-696)Gat>Aat	p.D232N		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	232					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	p.D232N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						AGACTGTGACGATGACAAGTA	0.607000													7	65					0	0	0.001984	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444509	25444509	+	RNA	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:25444509T>A	ENST00000424208.1	+	0	1782				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GGGACCTACCTGTTGTCCTGG	0.607000													12	92					0	0	0.000978	0	0
TMEM51	55092	broad.mit.edu	37	1	15545961	15545961	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:15545961G>A	ENST00000428417.1	+	3	930	c.484G>A	c.(484-486)Gag>Aag	p.E162K	TMEM51_ENST00000400796.3_Missense_Mutation_p.E162K|TMEM51_ENST00000376014.3_Missense_Mutation_p.E162K|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376008.2_Missense_Mutation_p.E162K	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	162						integral to membrane		p.E162K(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CCCGTCCTATGAGTCACTGAC	0.582000													6	49					0	0	0.001168	0	0
SEMA6D	80031	broad.mit.edu	37	15	48062707	48062707	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:48062707A>T	ENST00000316364.5	+	19	2386	c.1947A>T	c.(1945-1947)gaA>gaT	p.E649D	SEMA6D_ENST00000358066.4_Missense_Mutation_p.E587D|SEMA6D_ENST00000389433.2_Missense_Mutation_p.E630D|SEMA6D_ENST00000558014.1_Missense_Mutation_p.E587D|SEMA6D_ENST00000536845.2_Missense_Mutation_p.E649D|SEMA6D_ENST00000389428.3_Missense_Mutation_p.E574D|SEMA6D_ENST00000389432.2_Missense_Mutation_p.E606D|SEMA6D_ENST00000537942.1_Missense_Mutation_p.E587D|SEMA6D_ENST00000354744.4_Missense_Mutation_p.E593D|SEMA6D_ENST00000558816.1_Missense_Mutation_p.K586M|SEMA6D_ENST00000355997.3_Missense_Mutation_p.K586M	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	649					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.E649D(1)|p.E587D(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TACGATGGGAAGTCCAGTCTG	0.438000													13	113					0	0	0.004007	0	0
PLXNB2	23654	broad.mit.edu	37	22	50727191	50727191	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:50727191T>G	ENST00000449103.1	-	5	1501	c.1361A>C	c.(1360-1362)tAc>tCc	p.Y454S	PLXNB2_ENST00000359337.4_Missense_Mutation_p.Y454S			O15031	PLXB2_HUMAN	plexin B2	454	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.Y497S(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCATGGCGTACAGGCTGCC	0.597000													7	19					0	0	0.001984	0	0
DOCK3	1795	broad.mit.edu	37	3	51400009	51400009	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:51400009C>T	ENST00000266037.9	+	49	5220	c.5197C>T	c.(5197-5199)Ctg>Ttg	p.L1733L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1733	Ser-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.L1722L(1)|p.L1733L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CGTCTCTGTTCTGTCCTCGTC	0.557000													12	29					0	0	0.001368	0	0
SEPT5	5413	broad.mit.edu	37	22	19707369	19707369	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:19707369C>T	ENST00000438754.2	+	3	499	c.219C>T	c.(217-219)ctC>ctT	p.L73L	SEPT5_ENST00000455784.2_Silent_p.L64L|SEPT5_ENST00000383045.3_Silent_p.L73L|SEPT5_ENST00000406395.1_Silent_p.L64L	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	64					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	p.L64L(1)		lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TCCACAGCCTCTTCCTGACAG	0.612000													16	66					0	0	0.004007	0	0
LZTS1	11178	broad.mit.edu	37	8	20107322	20107322	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:20107322C>A	ENST00000381569.1	-	4	2059	c.1702G>T	c.(1702-1704)Gca>Tca	p.A568S	LZTS1_ENST00000522290.1_Missense_Mutation_p.A509S|LZTS1_ENST00000265801.6_Missense_Mutation_p.A568S			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	568					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A568S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCCCACGTGCCAGCTGCTGC	0.617000													11	73					6.40141e-05	7.42284e-05	0.000978	1	0
SIRPB2	284759	broad.mit.edu	37	20	1459098	1459098	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:1459098C>A	ENST00000359801.3	-	3	642	c.606G>T	c.(604-606)gaG>gaT	p.E202D	SIRPB2_ENST00000537284.1_Missense_Mutation_p.E64D|SIRPB2_ENST00000444444.1_Missense_Mutation_p.E104D|SIRPB2_ENST00000381630.1_Missense_Mutation_p.E104D	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	202	Ig-like V-type 2.					integral to membrane		p.E202D(1)|p.E301D(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGTAAATGGCCTCCCGGCTCA	0.572000													9	59					3.07112e-06	3.707e-06	0.000978	1	0
OR4N2	390429	broad.mit.edu	37	14	20296192	20296192	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:20296192G>A	ENST00000315947.1	+	1	585	c.585G>A	c.(583-585)gtG>gtA	p.V195V	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V195V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTGTGGTGGAGCTTCTGA	0.527000													10	310					0	0	0.008291	0	0
CRISP2	7180	broad.mit.edu	37	6	49660567	49660567	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:49660567C>T	ENST00000339139.4	-	10	887	c.651G>A	c.(649-651)ttG>ttA	p.L217L		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	217						extracellular space		p.L217L(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTGTATTCTTCAAGGAATCAC	0.373000													8	64					0	0	0.004482	0	0
PDHA1	5160	broad.mit.edu	37	X	19377730	19377730	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:19377730C>T	ENST00000379806.5	+	12	1391	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	PDHA1_ENST00000545074.1_Missense_Mutation_p.R385C|PDHA1_ENST00000540249.1_Missense_Mutation_p.R347C|PDHA1_ENST00000379804.1_Missense_Mutation_p.R97C|PDHA1_ENST00000422285.2_Missense_Mutation_p.R378C|PDHA1_ENST00000478795.1_3'UTR	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	378					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	p.R378C(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	TTTTGAAGTTCGTGGTGCCAA	0.527000													9	78					0	0	0.008291	0	0
CRYM-AS1	400508	broad.mit.edu	37	16	21327258	21327258	+	RNA	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:21327258T>C	ENST00000444326.1	+	0	265																		p.F9F(1)									CTGAAAAATTTATGGTTCTTC	0.338000													20	47					0	0	0.001882	0	0
MGAM	8972	broad.mit.edu	37	7	141752635	141752635	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:141752635T>A	ENST00000475668.2	+	26	3064	c.3010T>A	c.(3010-3012)Tct>Act	p.S1004T	MGAM_ENST00000549489.2_Missense_Mutation_p.S1004T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1004					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1004T(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGACCTATACTCTGTCAGTGA	0.458000													23	152					0	0	0.005443	0	0
RYR2	6262	broad.mit.edu	37	1	237753955	237753955	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:237753955G>C	ENST00000366574.2	+	31	4140	c.3823G>C	c.(3823-3825)Ggc>Cgc	p.G1275R	RYR2_ENST00000542537.1_Missense_Mutation_p.G1259R|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1275	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1273R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGAATAGACGGCACCATAGA	0.423000													41	224					0	0	0.007835	0	0
CACNB2	783	broad.mit.edu	37	10	18828318	18828318	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:18828318T>C	ENST00000396576.2	+	13	1984	c.1483T>C	c.(1483-1485)Tcc>Ccc	p.S495P	CACNB2_ENST00000377328.1_Missense_Mutation_p.S300P|CACNB2_ENST00000377315.4_Missense_Mutation_p.S502P|CACNB2_ENST00000282343.8_Missense_Mutation_p.S522P|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377329.4_Missense_Mutation_p.S496P|CACNB2_ENST00000352115.6_Missense_Mutation_p.S526P|CACNB2_ENST00000377331.2_Missense_Mutation_p.S498P|CACNB2_ENST00000377319.3_Missense_Mutation_p.S457P|CACNB2_ENST00000324631.7_Missense_Mutation_p.S550P	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	550					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.S496P(1)|p.S495P(1)|p.S526P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCGCGGCCTCTCCAGGCAAGA	0.542000													5	47					0	0	0.000602	0	0
C1orf101	257044	broad.mit.edu	37	1	244769071	244769071	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:244769071A>G	ENST00000366534.4	+	18	2432	c.2378A>G	c.(2377-2379)tAt>tGt	p.Y793C	C1orf101_ENST00000366531.3_Missense_Mutation_p.Y642C|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.Y793C	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	793						integral to membrane		p.Y793C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AGGGATGACTATAGCTTTAAT	0.328000													10	64					0	0	0.008291	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68725318	68725318	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:68725318G>T	ENST00000283916.6	-	2	185	c.87C>A	c.(85-87)atC>atA	p.I29I	TMPRSS11D_ENST00000545541.1_Intron|TMPRSS11D_ENST00000509584.1_Intron|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	29					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.I29I(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGACTGCCAGGATCACTACCC	0.378000													15	46					1.49906e-05	1.76722e-05	0.002450	1	0
XIST	7503	broad.mit.edu	37	X	73065478	73065478	+	RNA	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:73065478G>A	ENST00000429829.1	-	0	7110					NR_001564.2																						AAGGGCATCTGAGAGTAGGAC	0.443000													15	87					0	0	0.003163	0	0
GTF3C5	9328	broad.mit.edu	37	9	135926292	135926292	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:135926292A>T	ENST00000372097.5	+	4	1018	c.695A>T	c.(694-696)gAg>gTg	p.E232V	GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372099.6_Missense_Mutation_p.E223V|GTF3C5_ENST00000372095.5_Missense_Mutation_p.E107V|GTF3C5_ENST00000372108.5_Missense_Mutation_p.E232V	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	232						transcription factor TFIIIC complex	DNA binding|protein binding	p.E232V(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CAGCCACTGGAGGCTGCAGCC	0.622000													4	31					0	0	0.009096	0	0
TNR	7143	broad.mit.edu	37	1	175306810	175306810	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:175306810G>A	ENST00000367674.1	-	19	4096	c.3388C>T	c.(3388-3390)Cgg>Tgg	p.R1130W	TNR_ENST00000263525.2_Missense_Mutation_p.R1130W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1130	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R1130W(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGGAACACCCGGCCTCCTGCA	0.507000													9	37					0	0	0.004482	0	0
LRFN2	57497	broad.mit.edu	37	6	40400642	40400642	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:40400642C>A	ENST00000338305.6	-	2	753	c.211G>T	c.(211-213)Gac>Tac	p.D71Y		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	71						cell junction|integral to membrane|postsynaptic membrane		p.D71Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGGCAAAGTCCTGGCGGCTG	0.612000													12	36					6.40141e-05	7.42284e-05	0.000978	1	0
CTSB	1508	broad.mit.edu	37	8	11706573	11706573	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:11706573C>T	ENST00000353047.6	-	5	681	c.428G>A	c.(427-429)gGc>gAc	p.G143D	CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000415599.2_Intron|CTSB_ENST00000534510.1_Missense_Mutation_p.G143D|CTSB_ENST00000434271.1_Missense_Mutation_p.G143D|CTSB_ENST00000453527.2_Missense_Mutation_p.G143D|CTSB_ENST00000533455.1_Missense_Mutation_p.G143D|CTSB_ENST00000530640.2_Missense_Mutation_p.G143D|CTSB_ENST00000345125.3_Missense_Mutation_p.G143D|CTSB_ENST00000531089.1_Missense_Mutation_p.G143D	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	143					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	p.G143D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		ACACATGCTGCCACAGCATGT	0.622000													4	26					0	0	0.009096	0	0
LRP2	4036	broad.mit.edu	37	2	170048424	170048424	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:170048424C>T	ENST00000263816.3	-	48	9235	c.8950G>A	c.(8950-8952)Gag>Aag	p.E2984K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2984	LDL-receptor class A 22.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.E2984K(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCTGATTCTCATCGTAGCCG	0.468000													6	97					0	0	0.001168	0	0
RFWD2	64326	broad.mit.edu	37	1	176104162	176104162	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:176104162G>A	ENST00000367669.3	-	8	1466	c.952C>T	c.(952-954)Cct>Tct	p.P318S	RFWD2_ENST00000308769.8_Missense_Mutation_p.P294S	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	318					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P318S(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GATGGAGAAGGAGCTTCAAAT	0.363000													13	99					0	0	0.003163	0	0
LARP6	55323	broad.mit.edu	37	15	71125260	71125260	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:71125260G>T	ENST00000299213.8	-	3	677	c.607C>A	c.(607-609)Ccc>Acc	p.P203T		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	203					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.P203T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TTCTTCTGGGGGGTGGCCAGA	0.547000													4	32					0.000602214	0.000666962	0.000602	1	0
ABL2	27	broad.mit.edu	37	1	179077914	179077914	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:179077914T>A	ENST00000502732.1	-	12	2691	c.2488A>T	c.(2488-2490)Aat>Tat	p.N830Y	ABL2_ENST00000511413.1_Missense_Mutation_p.N727Y|ABL2_ENST00000504405.1_Missense_Mutation_p.N691Y|ABL2_ENST00000367623.4_Missense_Mutation_p.N809Y|ABL2_ENST00000512653.1_Missense_Mutation_p.N815Y|ABL2_ENST00000408940.3_Missense_Mutation_p.N794Y|ABL2_ENST00000507173.1_Missense_Mutation_p.N706Y|ABL2_ENST00000344730.3_Missense_Mutation_p.N712Y	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	830	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.N830Y(1)|p.N794Y(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGCATGTCATTGGCCCTGTCC	0.522000			T	ETV6	AML								31	68					0	0	0.008361	0	0
DACH1	1602	broad.mit.edu	37	13	72147052	72147052	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:72147052G>T	ENST00000305425.4	-	4	1647	c.1225C>A	c.(1225-1227)Cac>Aac	p.H409N	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.H461N|DACH1_ENST00000313174.7_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	459					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.H409N(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GTGCTGAGGTGGTTCATCTGG	0.443000													14	59					0.00244969	0.00267675	0.002450	1	0
GMPR	2766	broad.mit.edu	37	6	16295298	16295298	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:16295298G>C	ENST00000259727.4	+	9	1033	c.919G>C	c.(919-921)Gat>Cat	p.D307H	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	307					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	p.D307H(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CACTATCCTGGATATTCTCGG	0.517000													8	50					0	0	0.004482	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434464	118434464	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:118434464T>G	ENST00000369209.3	-	12	1960	c.1856A>C	c.(1855-1857)aAg>aCg	p.K619T		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	619							ATP binding	p.K1240T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GCCACACTTCTTCACCCCGGG	0.612000													4	64					0	0	0.009096	0	0
KAL1	3730	broad.mit.edu	37	X	8503684	8503684	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:8503684C>T	ENST00000262648.3	-	12	1939	c.1790G>A	c.(1789-1791)aGa>aAa	p.R597K	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	597	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	p.R597K(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GCTGTTCTGTCTGCTTTCCGT	0.493000													8	43					0	0	0.006214	0	0
ADAM23	8745	broad.mit.edu	37	2	207407978	207407978	+	Splice_Site	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:207407978G>C	ENST00000264377.3	+	6	986	c.656_splice	c.e6-1	p.G220_splice	ADAM23_ENST00000374416.1_Splice_Site_p.G220_splice|ADAM23_ENST00000374415.3_Splice_Site_p.G220_splice	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	220					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G220R(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGTGCTAGTGGCATGTTTGA	0.408000													8	56					0	0	0.004482	0	0
ZNF479	90827	broad.mit.edu	37	7	57188189	57188189	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:57188189G>T	ENST00000331162.4	-	5	1203	c.933C>A	c.(931-933)acC>acA	p.T311T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T311T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGTCAGTGAGGGTTGAGGATA	0.458000													5	52					2.7689e-08	3.57396e-08	0.001984	1	0
PLCE1	51196	broad.mit.edu	37	10	95791158	95791158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:95791158C>T	ENST00000260766.3	+	2	989	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.Q119*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	119					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.Q119*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGCCTTCCTCAGAGACAATT	0.388000													12	63					0	0	0.001855	0	0
PUM1	9698	broad.mit.edu	37	1	31501649	31501649	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:31501649C>A	ENST00000373747.3	-	3	525	c.426G>T	c.(424-426)atG>atT	p.M142I	PUM1_ENST00000257075.5_Missense_Mutation_p.M142I|PUM1_ENST00000440538.2_Missense_Mutation_p.M142I|PUM1_ENST00000426105.2_Missense_Mutation_p.M142I|PUM1_ENST00000424085.2_Missense_Mutation_p.M142I|PUM1_ENST00000423018.2_Missense_Mutation_p.M142I|PUM1_ENST00000373742.2_Missense_Mutation_p.M178I|PUM1_ENST00000373741.4_Missense_Mutation_p.M178I	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	142					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	p.M142I(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTACCTCTCCCATCGCTCTTC	0.413000													38	126					4.92203e-23	7.36568e-23	0.006230	1	0
CNKSR2	22866	broad.mit.edu	37	X	21508641	21508641	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:21508641A>T	ENST00000425654.2	+	6	1106	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.Q209L|CNKSR2_ENST00000379510.3_Missense_Mutation_p.Q209L|CNKSR2_ENST00000543067.1_Missense_Mutation_p.Q209L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	209					regulation of signal transduction	cytoplasm|membrane	protein binding	p.Q209L(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CTGGTTTCACAGTCTGCTCAC	0.418000													8	92					0	0	0.003080	0	0
BMP2	650	broad.mit.edu	37	20	6759010	6759010	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:6759010A>G	ENST00000378827.4	+	3	1684	c.465A>G	c.(463-465)gaA>gaG	p.E155E		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	155					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	p.E155E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	TTTTCCGAGAACAGATGCAAG	0.413000													7	51					0	0	0.003080	0	0
FCRLB	127943	broad.mit.edu	37	1	161693311	161693311	+	Silent	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:161693311C>G	ENST00000367948.2	+	5	422	c.207C>G	c.(205-207)ccC>ccG	p.P69P	FCRLB_ENST00000392158.1_Silent_p.P69P|FCRLB_ENST00000367945.1_Silent_p.P62P|FCRLB_ENST00000367946.3_Silent_p.P69P|FCRLB_ENST00000367944.3_Silent_p.P62P|FCRLB_ENST00000336830.5_Silent_p.P69P			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	69	Ig-like C2-type 1.					endoplasmic reticulum		p.P69P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TACTTCTGCCCTCTCACAAGA	0.562000													14	119					0	0	0.003163	0	0
DNAH11	8701	broad.mit.edu	37	7	21781567	21781567	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:21781567T>G	ENST00000328843.6	+	50	7989	c.7958T>G	c.(7957-7959)tTc>tGc	p.F2653C	DNAH11_ENST00000409508.3_Missense_Mutation_p.F2646C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2653	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F2653C(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGTTTGCATTCAATTTTCCA	0.363000									Kartagener syndrome				24	73					0	0	0.003954	0	0
KNG1	3827	broad.mit.edu	37	3	186459875	186459875	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:186459875C>A	ENST00000265023.4	+	10	1902	c.1690C>A	c.(1690-1692)Cag>Aag	p.Q564K	KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	564					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	p.Q564K(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTCTGACTTTCAGGACTCTGA	0.478000													28	108					7.38237e-10	9.88976e-10	0.006320	1	0
PHF20L1	51105	broad.mit.edu	37	8	133816176	133816176	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:133816176A>G	ENST00000395386.2	+	7	919	c.620A>G	c.(619-621)aAg>aGg	p.K207R	PHF20L1_ENST00000395390.2_Missense_Mutation_p.K181R|PHF20L1_ENST00000395379.1_Missense_Mutation_p.K207R|PHF20L1_ENST00000395374.1_Missense_Mutation_p.K46R|PHF20L1_ENST00000395376.1_Missense_Mutation_p.K211R|PHF20L1_ENST00000395382.3_Missense_Mutation_p.K77R|PHF20L1_ENST00000337920.4_Missense_Mutation_p.K181R|PHF20L1_ENST00000315808.10_Missense_Mutation_p.K207R|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395383.1_Missense_Mutation_p.K211R	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	207							nucleic acid binding|zinc ion binding	p.K181R(2)|p.K207R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATGAGAGAAAGTGGTTTAAA	0.418000													6	24					0	0	0.001168	0	0
MAP3K11	4296	broad.mit.edu	37	11	65373321	65373321	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:65373321C>T	ENST00000309100.3	-	8	2227	c.1742G>A	c.(1741-1743)aGa>aAa	p.R581K	MAP3K11_ENST00000530153.1_Missense_Mutation_p.R324K|MAP3K11_ENST00000532507.1_5'UTR|MAP3K11_ENST00000534432.1_5'UTR	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	581					activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.R581K(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCGGGACCTTCTCCTGGTGAT	0.567000													5	25					0	0	0.000602	0	0
LCE3E	353145	broad.mit.edu	37	1	152538491	152538491	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:152538491C>G	ENST00000368789.1	-	2	249	c.194G>C	c.(193-195)cGc>cCc	p.R65P		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	65					keratinization			p.R65P(1)		lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		GGACCTCTGGCGCCGGCATCG	0.677000													32	87					0	0	0.009535	0	0
KCNK13	56659	broad.mit.edu	37	14	90651131	90651131	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:90651131G>A	ENST00000282146.4	+	2	1452	c.1011G>A	c.(1009-1011)acG>acA	p.T337T		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	337						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.T337T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				AGAGTGACACGGACGGGCGCC	0.602000													6	64					0	0	0.003080	0	0
KCNH6	81033	broad.mit.edu	37	17	61611612	61611612	+	Silent	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:61611612C>G	ENST00000583023.1	+	5	1052	c.1041C>G	c.(1039-1041)ctC>ctG	p.L347L	KCNH6_ENST00000581784.1_Silent_p.L347L|KCNH6_ENST00000456941.2_Silent_p.L347L|KCNH6_ENST00000314672.5_Silent_p.L347L|KCNH6_ENST00000580652.1_Silent_p.L347L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	347					regulation of transcription, DNA-dependent|signal transduction			p.L347L(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCTGGTTCCTCATTGACATGG	0.597000													5	82					0	0	0.001168	0	0
FAM3C	10447	broad.mit.edu	37	7	121004205	121004205	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:121004205T>C	ENST00000359943.3	-	6	523	c.310A>G	c.(310-312)Atc>Gtc	p.I104V		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	104					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	p.I104V(1)		kidney(1)|lung(8)	9	all_neural(327;0.117)					GCAACATTGATCCCTCTTCCA	0.308000													4	29					0	0	0.000602	0	0
TCHH	7062	broad.mit.edu	37	1	152084937	152084937	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:152084937C>A	ENST00000368804.1	-	2	755	c.756G>T	c.(754-756)gtG>gtT	p.V252V		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	252					keratinization	cytoskeleton	calcium ion binding	p.V252V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTCCGGAGCACTGTCTCGC	0.587000													87	221					2.75442e-36	4.18688e-36	0.003610	1	0
PLCB2	5330	broad.mit.edu	37	15	40582826	40582826	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:40582826C>T	ENST00000260402.3	-	29	3410	c.3161G>A	c.(3160-3162)cGg>cAg	p.R1054Q	PLCB2_ENST00000557821.1_Missense_Mutation_p.R1050Q|PLCB2_ENST00000456256.2_Missense_Mutation_p.R1039Q	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1054					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R1054Q(1)|p.R1050Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCCTGGATCCGCTCCAGTCT	0.582000													26	256					0	0	0.004656	0	0
ZNF175	7728	broad.mit.edu	37	19	52090622	52090622	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:52090622G>A	ENST00000262259.2	+	5	1396	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	346					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q346Q(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TCTTTATTCAGAGATCAGAAT	0.398000													8	103					0	0	0.003080	0	0
FAM86EP	348926	broad.mit.edu	37	4	3954857	3954857	+	RNA	SNP	C	C	A	rs17410899		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:3954857C>A	ENST00000281228.8	-	0	141				FAM86EP_ENST00000313946.8_RNA																							AATATCCCGCCGCAGCTCAGA	0.488000													4	108					0.000602214	0.000666962	0.000602	1	0
TNNI3K	51086	broad.mit.edu	37	1	74954902	74954902	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:74954902G>A	ENST00000370891.2	+	24	2470	c.2454G>A	c.(2452-2454)atG>atA	p.M818I	TNNI3K_ENST00000326637.3_Missense_Mutation_p.M717I|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.M818I|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase									p.M717I(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						AAGTTGTCATGAAGTTAGAAG	0.363000													7	91					0	0	0.003080	0	0
ATP13A4	84239	broad.mit.edu	37	3	193201780	193201780	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:193201780G>A	ENST00000342695.4	-	8	1075	c.753C>T	c.(751-753)ctC>ctT	p.L251L	ATP13A4_ENST00000392443.3_Silent_p.L251L|ATP13A4_ENST00000295548.3_Silent_p.L251L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	251					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L251L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CGAGATGGTGGAGTTTTACAG	0.343000													11	130					0	0	0.008291	0	0
EMC1	23065	broad.mit.edu	37	1	19566829	19566829	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:19566829G>C	ENST00000477853.1	-	7	790	c.748C>G	c.(748-750)Ctg>Gtg	p.L250V	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.L228V|EMC1_ENST00000375199.3_Missense_Mutation_p.L250V	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1									p.L250V(1)									TCCGTCTCCAGAGCCAAAGTT	0.582000													11	68					0	0	0.000978	0	0
SRBD1	55133	broad.mit.edu	37	2	45620234	45620234	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:45620234C>A	ENST00000263736.4	-	20	2610	c.2548G>T	c.(2548-2550)Gtt>Ttt	p.V850F	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.V369F	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	850					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	p.V850F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GGCTTTCCAACCTCATACAGT	0.358000													10	51					1.58986e-06	1.94561e-06	0.008291	1	0
FREM2	341640	broad.mit.edu	37	13	39265303	39265303	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:39265303A>G	ENST00000280481.7	+	1	4038	c.3822A>G	c.(3820-3822)gaA>gaG	p.E1274E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1274					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.E1274E(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGACCCAGGAAGACAGTTTTG	0.433000													26	143					0	0	0.005443	0	0
MLC1	23209	broad.mit.edu	37	22	50515285	50515285	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:50515285G>T	ENST00000311597.5	-	7	1188	c.582C>A	c.(580-582)gtC>gtA	p.V194V	MLC1_ENST00000450140.2_Silent_p.V142V|MLC1_ENST00000395876.2_Silent_p.V194V|MLC1_ENST00000431262.2_Silent_p.V164V|MLC1_ENST00000535444.1_Silent_p.V115V|MLC1_ENST00000538737.1_Silent_p.V160V	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	194						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	p.V194V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		AAGATTTCAGGACCCGAGCAG	0.517000													20	93					1.96292e-10	2.67351e-10	0.010504	1	0
RYR2	6262	broad.mit.edu	37	1	237802366	237802366	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:237802366G>T	ENST00000366574.2	+	46	7297	c.6980G>T	c.(6979-6981)aGg>aTg	p.R2327M	RYR2_ENST00000542537.1_Missense_Mutation_p.R2311M|RYR2_ENST00000360064.6_Missense_Mutation_p.R2325M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2327	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R2325M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCATTCGGAGGCCTGAGTGT	0.458000													10	40					2.80697e-09	3.72741e-09	0.000978	1	0
TMED7	51014	broad.mit.edu	37	5	114961405	114961405	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:114961405G>C	ENST00000456936.3	-	1	465	c.85C>G	c.(85-87)Cct>Gct	p.P29A	TMED7_ENST00000503010.1_Intron|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.P29A|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.P29A|TICAM2_ENST00000408996.4_Missense_Mutation_p.P29A	NM_181836.5	NP_861974.1			transmembrane emp24 protein transport domain containing 7									p.P29A(1)		breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		CCGGGTCCAGGCACCAGTAGC	0.701000													3	12					0	0	0.004672	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768283	77768283	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:77768283G>A	ENST00000521891.2	+	10	9574	c.9126G>A	c.(9124-9126)caG>caA	p.Q3042Q	ZFHX4_ENST00000518282.1_Silent_p.Q3016Q|ZFHX4_ENST00000050961.6_Silent_p.Q2997Q|ZFHX4_ENST00000455469.2_Silent_p.Q2997Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2997						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q3026Q(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGGCAGTCAGCTCGATCGGG	0.517000										HNSCC(33;0.089)			12	61					0	0	0.001855	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965153	88965153	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:88965153A>G	ENST00000333190.4	+	4	3466	c.2857A>G	c.(2857-2859)Agt>Ggt	p.S953G		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	953						intracellular	zinc ion binding	p.S953G(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAGTTGTAAAAGTGAATTAGA	0.398000										HNSCC(36;0.09)			33	108					0	0	0.002836	0	0
ATRNL1	26033	broad.mit.edu	37	10	117026331	117026331	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:117026331C>A	ENST00000355044.3	+	12	1956	c.1830C>A	c.(1828-1830)taC>taA	p.Y610*		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	610						integral to membrane	sugar binding	p.Y610*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCCTTGTATACAAGCCTCCAA	0.333000													31	97					3.1745e-13	4.50889e-13	0.008361	1	0
PLA2G4A	5321	broad.mit.edu	37	1	186957600	186957600	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:186957600G>T	ENST00000367466.3	+	18	2362	c.2210G>T	c.(2209-2211)aGa>aTa	p.R737I	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.R677I	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	737	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.R737I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GAGGCAAGAAGATTTTTCAAC	0.393000													15	72					2.94398e-08	3.79534e-08	0.007413	1	0
FRMD6	122786	broad.mit.edu	37	14	52179252	52179252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:52179252G>T	ENST00000395718.2	+	9	1093	c.808G>T	c.(808-810)Gga>Tga	p.G270*	FRMD6_ENST00000356218.4_Nonsense_Mutation_p.G270*|FRMD6_ENST00000554167.1_Nonsense_Mutation_p.G201*|FRMD6_ENST00000344768.5_Nonsense_Mutation_p.G278*	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	278	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding	p.G270*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GACAAATGTTGGAAAATTGGT	0.284000													7	38					2.7689e-08	3.57396e-08	0.001984	1	0
TNR	7143	broad.mit.edu	37	1	175372465	175372465	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:175372465C>T	ENST00000367674.1	-	4	1495	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TNR_ENST00000263525.2_Missense_Mutation_p.E263K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	263	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E263K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACCTCAGTTCCCTGCAGTCC	0.637000													14	33					0	0	0.001855	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89197009	89197009	+	RNA	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:89197009C>A	ENST00000390244.2	+	0	117																											AATCAGATACCAGGGCAGAAA	0.388000													15	29					1.3612e-06	1.66964e-06	0.003163	1	0
ABCA2	20	broad.mit.edu	37	9	139903447	139903447	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:139903447C>A	ENST00000265662.5	-	46	7033	c.6886G>T	c.(6886-6888)Gtg>Ttg	p.V2296L	ABCA2_ENST00000341511.6_Missense_Mutation_p.V2296L|ABCA2_ENST00000371605.3_Missense_Mutation_p.V2295L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2295					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V2296L(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AACCGCACCACGTCCTTCACA	0.682000													3	20					1.23904e-05	1.46721e-05	0.000602	1	0
ADCY8	114	broad.mit.edu	37	8	131861865	131861865	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:131861865C>A	ENST00000286355.5	-	10	4487	c.2395G>T	c.(2395-2397)Ggt>Tgt	p.G799C	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	799					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	p.G799F(1)		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)			AAGATGGCACCCAGGAAATTA	0.458000										HNSCC(32;0.087)			7	23					8.12818e-05	9.34345e-05	0.001984	1	0
HEATR1	55127	broad.mit.edu	37	1	236722329	236722329	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:236722329T>A	ENST00000366582.3	-	35	4991	c.4877A>T	c.(4876-4878)aAg>aTg	p.K1626M	HEATR1_ENST00000366581.2_Missense_Mutation_p.K1545M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1626					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.K1626M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGCTGCAGCTTGTTATTCAA	0.478000													24	73					0	0	0.002780	0	0
DNAJC18	202052	broad.mit.edu	37	5	138762004	138762004	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:138762004C>G	ENST00000302060.5	-	4	496	c.416G>C	c.(415-417)aGa>aCa	p.R139T		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	139	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	p.R139T(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATAGCGAAGTCTCTTATCAGG	0.448000													9	78					0	0	0.004482	0	0
ANXA11	311	broad.mit.edu	37	10	81928909	81928909	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:81928909G>C	ENST00000438331.1	-	6	859	c.377C>G	c.(376-378)gCc>gGc	p.A126G	ANXA11_ENST00000360615.4_Missense_Mutation_p.A126G|ANXA11_ENST00000535999.1_Missense_Mutation_p.A126G|ANXA11_ENST00000372231.3_Missense_Mutation_p.A126G|ANXA11_ENST00000265447.4_Missense_Mutation_p.A126G|ANXA11_ENST00000422982.3_Missense_Mutation_p.A126G|ANXA11_ENST00000537102.1_Missense_Mutation_p.A93G	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	126					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	p.A126G(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CGGCACAGGGGCCCCTGGGTA	0.687000													3	20					0	0	0.009096	0	0
DGCR14	8220	broad.mit.edu	37	22	19127517	19127517	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:19127517C>T	ENST00000252137.6	-	4	464	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	141					nervous system development	catalytic step 2 spliceosome		p.E141K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GGCTCCTTCTCCTCCTCCTCT	0.587000													7	83					0	0	0.003080	0	0
TYRP1	7306	broad.mit.edu	37	9	12704597	12704597	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:12704597A>G	ENST00000388918.5	+	6	1282	c.1153A>G	c.(1153-1155)Aat>Gat	p.N385D	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Missense_Mutation_p.N94D|TYRP1_ENST00000381136.2_Missense_Mutation_p.N95D	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	385					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N385D(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TCTATTCCTGAATGGAACAGG	0.453000									Oculocutaneous Albinism				5	57					0	0	0.001168	0	0
FBXO38	81545	broad.mit.edu	37	5	147807317	147807317	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:147807317G>T	ENST00000340253.5	+	15	2628	c.2460G>T	c.(2458-2460)ctG>ctT	p.L820L	FBXO38_ENST00000394370.3_Intron|FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	820						cytoplasm|nucleus		p.L820L(1)	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)			TTAGGACTCTGCCACAAGGGG	0.577000													4	29					0.00024832	0.000279097	0.009096	1	0
FREM2	341640	broad.mit.edu	37	13	39262664	39262664	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:39262664T>G	ENST00000280481.7	+	1	1399	c.1183T>G	c.(1183-1185)Tac>Gac	p.Y395D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	395					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Y395D(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAGATTGCCTACCAGCCCCC	0.557000													9	52					0	0	0.004482	0	0
SPEG	10290	broad.mit.edu	37	2	220353803	220353803	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:220353803C>G	ENST00000312358.7	+	35	8309	c.8177C>G	c.(8176-8178)tCa>tGa	p.S2726*	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2726	Fibronectin type-III 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.S2726*(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTGTGAGCTCAGGCATCCCC	0.632000													3	59					0	0	0.004672	0	0
KDELC1	79070	broad.mit.edu	37	13	103441508	103441508	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:103441508C>T	ENST00000376004.4	-	7	1483	c.1147G>A	c.(1147-1149)Ggt>Agt	p.G383S	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	383						endoplasmic reticulum lumen		p.G383S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACACTGTCACCAACTAGCAAA	0.403000													18	103					0	0	0.008871	0	0
LRP1B	53353	broad.mit.edu	37	2	141986830	141986830	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:141986830G>C	ENST00000389484.3	-	6	1743	c.772C>G	c.(772-774)Caa>Gaa	p.Q258E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	258					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q258K(1)|p.Q258E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTTGAGTTGATTTGAAGAT	0.308000										TSP Lung(27;0.18)			16	54					0	0	0.003163	0	0
MYO5C	55930	broad.mit.edu	37	15	52517702	52517702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:52517702C>A	ENST00000261839.7	-	26	3396	c.3235G>T	c.(3235-3237)Gaa>Taa	p.E1079*		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1079						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.E1079*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAAGTAGTTCTATCTCTTTT	0.378000													42	96					3.61183e-13	5.12319e-13	0.003610	1	0
USP8	9101	broad.mit.edu	37	15	50789393	50789393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:50789393G>A	ENST00000433963.1	+	19	3503	c.3003G>A	c.(3001-3003)tgG>tgA	p.W1001*	RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000396444.3_Nonsense_Mutation_p.W1001*|USP8_ENST00000307179.4_Nonsense_Mutation_p.W1001*|USP8_ENST00000425032.3_Nonsense_Mutation_p.W895*	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1001					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.W1001*(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TAGAAATCTGGAAGTTACCAC	0.363000													30	66					0	0	0.007291	0	0
TRAJ26	28729	broad.mit.edu	37	14	22987458	22987458	+	RNA	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:22987458C>T	ENST00000390511.1	+	0	35																											TCTTTGGTCCCGGAACCAGAT	0.512000													40	109					0	0	0.003214	0	0
SLC30A8	169026	broad.mit.edu	37	8	118165313	118165313	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:118165313T>C	ENST00000427715.2	+	6	689	c.255T>C	c.(253-255)ttT>ttC	p.F85F	SLC30A8_ENST00000521243.1_Silent_p.F85F|SLC30A8_ENST00000456015.2_Silent_p.F134F|SLC30A8_ENST00000519688.1_Silent_p.F85F	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	134					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.F134F(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GGCTGACATTTGGATGGCACC	0.512000													7	33					0	0	0.001984	0	0
CCT6P1	643253	broad.mit.edu	37	7	65220892	65220892	+	RNA	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:65220892T>G	ENST00000442266.1	+	0	408																											GGCCAGGGCATCTCTTTGTAC	0.383000													6	24					0	0	0.001168	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43283962	43283962	+	RNA	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:43283962C>A	ENST00000511537.1	-	0	973					NR_033868.1																						AAGCCATCAGCCATTCTGATG	0.458000													7	27					2.7689e-08	3.57396e-08	0.001984	1	0
IGLV4-60	28785	broad.mit.edu	37	22	22516926	22516926	+	RNA	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:22516926G>C	ENST00000390284.2	+	0	214																											GATGAAGCTTGAAGGTAGTGG	0.572000													7	38					0	0	0.001984	0	0
OR2L13	284521	broad.mit.edu	37	1	248262731	248262731	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:248262731C>A	ENST00000366478.2	+	3	391	c.54C>A	c.(52-54)ccC>ccA	p.P18P	OR2L13_ENST00000358120.2_Silent_p.P18P	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.P18P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GTCTGCTTCCCCCAAATCAAA	0.408000													38	132					3.09479e-21	4.61175e-21	0.006999	1	0
NRXN1	9378	broad.mit.edu	37	2	50692672	50692672	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:50692672G>A	ENST00000404971.1	-	18	4731	c.3392C>T	c.(3391-3393)tCa>tTa	p.S1131L	NRXN1_ENST00000406316.2_Missense_Mutation_p.S1091L|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1091L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1083L|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1083L|NRXN1_ENST00000401710.1_Missense_Mutation_p.S109L|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1091L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1091	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.S1132L(1)|p.S1091L(1)|p.S1131L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATTGGAACATGAGTCCTCTTG	0.448000													3	32					0	0	0.004672	0	0
TAOK3	51347	broad.mit.edu	37	12	118615075	118615075	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:118615075C>G	ENST00000392533.3	-	16	2116	c.1626G>C	c.(1624-1626)aaG>aaC	p.K542N	TAOK3_ENST00000419821.2_Missense_Mutation_p.K542N|TAOK3_ENST00000537952.1_Missense_Mutation_p.K82N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	542					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.K542N(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAAATCTTTCTTCTGCTGGG	0.358000													14	146					0	0	0.002450	0	0
STK25	10494	broad.mit.edu	37	2	242441097	242441097	+	Silent	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:242441097G>C	ENST00000316586.4	-	3	406	c.57C>G	c.(55-57)ctC>ctG	p.L19L	STK25_ENST00000403346.3_Silent_p.L19L|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000401869.1_Silent_p.L19L|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000405585.1_Intron|STK25_ENST00000405883.3_Intron	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	19					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.L19L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCTTGGTGAAGAGCTCCTCAG	0.627000													6	32					0	0	0.001168	0	0
PIGT	51604	broad.mit.edu	37	20	44049033	44049033	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:44049033G>C	ENST00000279036.6	+	7	911	c.831G>C	c.(829-831)gaG>gaC	p.E277D	PIGT_ENST00000279035.9_Missense_Mutation_p.E175D|PIGT_ENST00000545755.1_Missense_Mutation_p.E15D|PIGT_ENST00000341555.5_Missense_Mutation_p.E83D|PIGT_ENST00000535404.1_Missense_Mutation_p.E122D|PIGT_ENST00000543458.2_Missense_Mutation_p.E221D|PIGT_ENST00000372689.5_Missense_Mutation_p.E277D	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	277					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	p.E277D(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TGGCTTCAGAGAGCCGAGTCT	0.612000													4	17					0	0	0.000602	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130843796	130843796	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:130843796C>A	ENST00000509018.1	-	9	1115	c.910G>T	c.(910-912)Gct>Tct	p.A304S	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.A304S|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.A19S|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.A304S|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.A304S|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.A304S|FNIP1_ENST00000514667.1_Missense_Mutation_p.A354S|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.A304S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	304					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	p.A304S(3)|p.A354S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATAGCTCCAGCCTGCTCTACC	0.363000													36	131					1.22674e-20	1.82038e-20	0.008740	1	0
TRIO	7204	broad.mit.edu	37	5	14287164	14287164	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:14287164G>A	ENST00000344204.4	+	4	556	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	TRIO_ENST00000537187.1_Missense_Mutation_p.E178K|TRIO_ENST00000509967.2_Missense_Mutation_p.E129K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	178	CRAL-TRIO.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCTAAATTTGAATTTGAGGT	0.438000													10	98					0	0	0.006214	0	0
RYR2	6262	broad.mit.edu	37	1	237837442	237837442	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:237837442C>A	ENST00000366574.2	+	59	8954	c.8637C>A	c.(8635-8637)gcC>gcA	p.A2879A	RYR2_ENST00000542537.1_Silent_p.A2863A|RYR2_ENST00000360064.6_Silent_p.A2877A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2879	4 X approximate repeats.|Calmodulin-binding (Potential).|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A2877A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACTGACAGCCAAAGAGAAAG	0.423000													16	82					5.3912e-06	6.44152e-06	0.006122	1	0
KNTC1	9735	broad.mit.edu	37	12	123103061	123103061	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:123103061G>T	ENST00000333479.7	+	59	6295	c.6118G>T	c.(6118-6120)Gat>Tat	p.D2040Y	KNTC1_ENST00000450485.2_Missense_Mutation_p.D965Y|KNTC1_ENST00000537348.1_3'UTR|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2040					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.D2040Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCAGCTGTCAGATTGTTCTGA	0.343000													11	47					3.86212e-05	4.49803e-05	0.008291	1	0
TBC1D22A	25771	broad.mit.edu	37	22	47433074	47433074	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:47433074C>T	ENST00000337137.4	+	11	1475	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R359C|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R378C|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R390C	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	437	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity	p.R437C(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTGTACCATCCGCCTGTGGGA	0.637000													8	61					0	0	0.003080	0	0
PTPRD	5789	broad.mit.edu	37	9	8471018	8471018	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:8471018G>T	ENST00000381196.4	-	28	4024	c.3481C>A	c.(3481-3483)Cca>Aca	p.P1161T	PTPRD_ENST00000540109.1_Missense_Mutation_p.P1161T|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1148T|PTPRD_ENST00000537002.1_Missense_Mutation_p.P747T|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1139T|PTPRD_ENST00000486161.1_Missense_Mutation_p.P750T|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1161T|PTPRD_ENST00000397606.3_Missense_Mutation_p.P740T|PTPRD_ENST00000355233.5_Missense_Mutation_p.P750T|PTPRD_ENST00000397611.3_Missense_Mutation_p.P747T|PTPRD_ENST00000397617.3_Missense_Mutation_p.P740T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1161					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P1161T(2)|p.P632T(1)|p.P750T(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTTCATCTGGACTCTCCCAT	0.408000										TSP Lung(15;0.13)			16	92					6.94344e-10	9.31352e-10	0.006122	1	0
CDHR1	92211	broad.mit.edu	37	10	85961591	85961591	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:85961591G>A	ENST00000372117.3	+	7	657	c.554G>A	c.(553-555)cGc>cAc	p.R185H	CDHR1_ENST00000332904.3_Missense_Mutation_p.R185H	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	185	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity	p.R185H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCCGTGGACCGCCACAGCGGT	0.617000													9	16					0	0	0.006214	0	0
CEP85L	387119	broad.mit.edu	37	6	118953648	118953648	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:118953648C>A	ENST00000368491.3	-	2	821	c.200G>T	c.(199-201)gGc>gTc	p.G67V	CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000368488.5_Missense_Mutation_p.G70V|CEP85L_ENST00000419517.2_Missense_Mutation_p.G67V|CEP85L_ENST00000392500.3_Missense_Mutation_p.G70V	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	67						centrosome		p.G67V(1)									AGTTCCAATGCCAGTGTCTCC	0.408000													8	72					0.00448238	0.00485286	0.004482	1	0
KIAA0196	9897	broad.mit.edu	37	8	126051107	126051107	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:126051107G>A	ENST00000318410.7	-	25	3398	c.3049C>T	c.(3049-3051)Ctg>Ttg	p.L1017L	KIAA0196_ENST00000517845.1_Silent_p.L869L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1017					cell death	WASH complex		p.L1017L(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GCTGCCTCCAGATAGGCTGTG	0.448000													14	101					0	0	0.002450	0	0
CRISP3	10321	broad.mit.edu	37	6	49696539	49696539	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:49696539A>G	ENST00000433368.2	-	8	780	c.711T>C	c.(709-711)agT>agC	p.S237S	CRISP3_ENST00000393666.1_Silent_p.S214S|CRISP3_ENST00000423399.2_Silent_p.S124S|CRISP3_ENST00000371159.4_Silent_p.S245S|CRISP3_ENST00000263045.4_Silent_p.S227S	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	214					innate immune response	proteinaceous extracellular matrix|specific granule		p.S214S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTTTACAGTTACTATAGAGAT	0.348000													22	63					0	0	0.003330	0	0
CPED1	79974	broad.mit.edu	37	7	120906781	120906781	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:120906781C>T	ENST00000310396.5	+	20	3019	c.2552C>T	c.(2551-2553)aCt>aTt	p.T851I		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.T851I(1)									CTAGAGAATACTGGCCAGACT	0.393000													6	62					0	0	0.001984	0	0
FFAR4	338557	broad.mit.edu	37	10	95335955	95335955	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:95335955C>T	ENST00000371483.4	+	2	731	c.675C>T	c.(673-675)atC>atT	p.I225I	FFAR4_ENST00000371481.4_Silent_p.I225I|FFAR4_ENST00000604414.1_Silent_p.I225I	NM_181745.3	NP_859529.2			free fatty acid receptor 4									p.I225I(1)									TCATTGTGATCAGTTACTCCA	0.448000													16	149					0	0	0.007413	0	0
ANO4	121601	broad.mit.edu	37	12	101504243	101504243	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:101504243C>A	ENST00000392979.3	+	22	2467	c.2106C>A	c.(2104-2106)gcC>gcA	p.A702A	ANO4_ENST00000299222.9_Silent_p.A257A|ANO4_ENST00000392977.3_Silent_p.A737A|ANO4_ENST00000550015.1_Silent_p.A257A	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	737						chloride channel complex	chloride channel activity	p.A702A(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CACTTCTGGCCTTACTGAATA	0.398000										HNSCC(74;0.22)			19	82					4.35082e-09	5.74871e-09	0.010504	1	0
CYP2C19	1557	broad.mit.edu	37	10	96609762	96609762	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:96609762T>C	ENST00000371321.3	+	8	1320	c.1238T>C	c.(1237-1239)cTg>cCg	p.L413P	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	413					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.L413P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CGTCACTTTCTGGATGAAGGT	0.378000													14	119					0	0	0.003163	0	0
C2orf44	80304	broad.mit.edu	37	2	24261839	24261839	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:24261839C>G	ENST00000295148.4	-	2	583	c.526G>C	c.(526-528)Ggc>Cgc	p.G176R	C2orf44_ENST00000406895.3_Missense_Mutation_p.G176R	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	176							protein binding	p.G176R(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCTGCTGCCTACTGCCACC	0.552000			T	ALK	NSCLC								9	32					0	0	0.006214	0	0
ZNF862	643641	broad.mit.edu	37	7	149558928	149558928	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:149558928C>T	ENST00000223210.4	+	7	2924	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	893					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	p.F893F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGGAAGAATTCAACGCCAGCT	0.607000													5	36					0	0	0.001168	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702206	27702206	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:27702206A>T	ENST00000438700.3	-	1	1091	c.974T>A	c.(973-975)cTg>cAg	p.L325Q		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	325					spermatid development	integral to membrane	hedgehog receptor activity	p.L325Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGGTAGTACAGCAGCCGCAT	0.557000													38	110					0	0	0.004289	0	0
GPD1L	23171	broad.mit.edu	37	3	32180188	32180188	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:32180188C>T	ENST00000282541.5	+	3	536	c.335C>T	c.(334-336)cCc>cTc	p.P112L		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	112					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity	p.P112L(1)		large_intestine(4)|lung(7)|ovary(1)	12						GGGAGAGTGCCCAAGAAAGCG	0.488000													21	46					0	0	0.001882	0	0
LENG8	114823	broad.mit.edu	37	19	54967589	54967589	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:54967589G>T	ENST00000326764.5	+	10	1869	c.1390G>T	c.(1390-1392)Ggc>Tgc	p.G464C	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	427							protein binding	p.G464C(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TAAGGGCCGGGGCGGTCGAGG	0.667000													8	25					5.18039e-06	6.19661e-06	0.003080	1	0
IL7R	3575	broad.mit.edu	37	5	35871201	35871201	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:35871201A>G	ENST00000303115.3	+	4	552	c.423A>G	c.(421-423)gaA>gaG	p.E141E	IL7R_ENST00000506850.1_Silent_p.E141E|IL7R_ENST00000343305.4_Silent_p.E141E	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	141	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.E141E(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCTATCGGGAAGGAGCCAATG	0.388000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						45	69					0	0	0.003610	0	0
ZNF570	148268	broad.mit.edu	37	19	37975783	37975783	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:37975783G>T	ENST00000330173.1	+	5	1788	c.1259G>T	c.(1258-1260)aGg>aTg	p.R420M	ZNF570_ENST00000388801.3_Missense_Mutation_p.R217M|ZNF570_ENST00000586475.1_Missense_Mutation_p.R476M	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R420M(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGGAATGTAGGAAAGCATTC	0.413000													21	89					6.44725e-10	8.66988e-10	0.002299	1	0
OSBPL5	114879	broad.mit.edu	37	11	3114894	3114894	+	Splice_Site	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:3114894C>A	ENST00000263650.7	-	17	1969		c.e17-1		OSBPL5_ENST00000478260.1_Splice_Site|OSBPL5_ENST00000542243.1_Splice_Site|OSBPL5_ENST00000525498.1_Splice_Site|OSBPL5_ENST00000389989.3_Splice_Site|OSBPL5_ENST00000348039.5_Splice_Site	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5						cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CGTCCCTGTCCTGCCCCAGAT	0.682000													6	28					8.12818e-05	9.34345e-05	0.001984	1	0
KRT28	162605	broad.mit.edu	37	17	38953472	38953472	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:38953472G>A	ENST00000306658.7	-	4	817	c.752C>T	c.(751-753)cCg>cTg	p.P251L		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	251	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.P251L(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GTCTACCCCCGGGGCCGCGTT	0.597000													22	68					0	0	0.003330	0	0
GTF3C3	9330	broad.mit.edu	37	2	197637761	197637761	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:197637761C>G	ENST00000263956.3	-	14	2037	c.1948G>C	c.(1948-1950)Gat>Cat	p.D650H		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	650						transcription factor TFIIIC complex	DNA binding|protein binding	p.D650H(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AATGAGGAATCTACAAGCAAC	0.403000													11	58					0	0	0.000978	0	0
HSD17B12	51144	broad.mit.edu	37	11	43775601	43775601	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:43775601A>G	ENST00000278353.4	+	3	332	c.213A>G	c.(211-213)gcA>gcG	p.A71A	HSD17B12_ENST00000529261.1_3'UTR|HSD17B12_ENST00000395700.4_Silent_p.A71A	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	71					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity	p.A71A(1)		endometrium(2)|large_intestine(4)|lung(4)	10						TTCAGTTAGCAAAGCATGGAA	0.373000													19	214					0	0	0.010504	0	0
REV3L	5980	broad.mit.edu	37	6	111701255	111701255	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:111701255C>T	ENST00000435970.1	-	13	1966	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	REV3L_ENST00000368802.3_Missense_Mutation_p.E462K|REV3L_ENST00000358835.3_Missense_Mutation_p.E462K|REV3L_ENST00000368805.1_Missense_Mutation_p.E462K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	462					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.E384K(1)|p.E462K(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGCTCCATTTCCTCTTTTTCA	0.353000								DNA polymerases (catalytic subunits)					24	222					0	0	0.003954	0	0
FBXO24	26261	broad.mit.edu	37	7	100187947	100187947	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:100187947G>T	ENST00000241071.6	+	3	611	c.289G>T	c.(289-291)Gtc>Ttc	p.V97F	FBXO24_ENST00000465843.1_Intron|FBXO24_ENST00000360609.2_Intron|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.V135F|FBXO24_ENST00000468962.1_Missense_Mutation_p.V85F	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	97						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.V97F(1)|p.V135F(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGGTTCTGGAGTCCGGCCCTG	0.592000													5	34					2.7689e-08	3.57396e-08	0.001984	1	0
GPR174	84636	broad.mit.edu	37	X	78427094	78427094	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:78427094C>T	ENST00000276077.1	+	1	626	c.590C>T	c.(589-591)cCg>cTg	p.P197L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	197						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.P197L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTTGTAACTCCGCTTCTGATT	0.443000										HNSCC(63;0.18)			19	77					0	0	0.007413	0	0
USP26	83844	broad.mit.edu	37	X	132161441	132161441	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:132161441G>C	ENST00000511190.1	-	6	1277	c.808C>G	c.(808-810)Caa>Gaa	p.Q270E	USP26_ENST00000370832.1_Missense_Mutation_p.Q270E|USP26_ENST00000406273.1_Missense_Mutation_p.Q270E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	270					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.Q270E(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTATACCCTTGTTGTAACAGA	0.388000													12	61					0	0	0.001368	0	0
NOX4	50507	broad.mit.edu	37	11	89185034	89185034	+	Silent	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:89185034T>A	ENST00000535633.1	-	3	421	c.111A>T	c.(109-111)gcA>gcT	p.A37A	NOX4_ENST00000343727.5_Silent_p.A37A|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000534731.1_Silent_p.A61A|NOX4_ENST00000413594.2_Silent_p.A82A|NOX4_ENST00000528341.1_Silent_p.A36A|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527956.1_Silent_p.A37A|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000263317.4_Silent_p.A61A|NOX4_ENST00000542487.1_Silent_p.A37A|NOX4_ENST00000532825.1_Silent_p.A37A|NOX4_ENST00000525196.1_Silent_p.A61A|NOX4_ENST00000424319.1_Silent_p.A37A	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	61					cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.A61A(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TAAGAACAGATGCTGAGGCTC	0.463000													17	48					0	0	0.007413	0	0
SLC44A5	204962	broad.mit.edu	37	1	75685015	75685015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:75685015G>T	ENST00000370855.5	-	16	1306	c.1193C>A	c.(1192-1194)tCg>tAg	p.S398*	SLC44A5_ENST00000370859.3_Nonsense_Mutation_p.S398*|SLC44A5_ENST00000535611.1_Nonsense_Mutation_p.S268*	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	398						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.S398*(2)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGTACCCCCGATGTCGCCAA	0.388000													4	38					0.00909568	0.009748	0.009096	1	0
ABCA5	23461	broad.mit.edu	37	17	67305562	67305562	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:67305562T>C	ENST00000392676.3	-	4	374	c.310A>G	c.(310-312)Ata>Gta	p.I104V	ABCA5_ENST00000588877.1_Missense_Mutation_p.I104V|ABCA5_ENST00000392677.2_Missense_Mutation_p.I104V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	104					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.I104V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCAGTAATTATGACTGTAAGA	0.294000													11	37					0	0	0.000978	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351264	89351264	+	Silent	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:89351264G>C	ENST00000301030.4	-	9	2146	c.1686C>G	c.(1684-1686)gtC>gtG	p.V562V	ANKRD11_ENST00000378330.2_Silent_p.V562V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	562	Ser-rich.					nucleus		p.V562V(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ATAAAGAACTGACCTCTGACC	0.557000													11	31					0	0	0.008291	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923548	43923548	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:43923548G>A	ENST00000329196.5	+	1	1293	c.1276G>A	c.(1276-1278)Gtg>Atg	p.V426M	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	426						integral to membrane	aspartic-type endopeptidase activity	p.V426M(1)									GGTACTCAAAGTGCCCCGGCT	0.592000													10	51					0	0	0.006214	0	0
GABBR1	2550	broad.mit.edu	37	6	29576387	29576387	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:29576387G>A	ENST00000377034.4	-	16	2318	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	GABBR1_ENST00000377016.4_Silent_p.F599F|GABBR1_ENST00000377012.4_Silent_p.F544F|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_Silent_p.F544F	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	661					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.F661F(2)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CCTGGCAGACGAAAGGAAACT	0.547000													6	34					0	0	0.001168	0	0
SNAP91	9892	broad.mit.edu	37	6	84290252	84290252	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:84290252G>C	ENST00000428679.2	-	24	2809	c.2216C>G	c.(2215-2217)tCa>tGa	p.S739*	SNAP91_ENST00000437520.1_Nonsense_Mutation_p.S432*|SNAP91_ENST00000439399.2_Nonsense_Mutation_p.S739*|SNAP91_ENST00000521743.1_Nonsense_Mutation_p.S739*|SNAP91_ENST00000520302.1_Nonsense_Mutation_p.S709*|SNAP91_ENST00000521485.1_Nonsense_Mutation_p.S734*|SNAP91_ENST00000520213.1_Nonsense_Mutation_p.S432*|SNAP91_ENST00000369694.2_Nonsense_Mutation_p.S739*|SNAP91_ENST00000195649.6_Nonsense_Mutation_p.S734*			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	739					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.S739*(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGGTACCATTGAGACAGGTGC	0.468000													5	81					0	0	0.000602	0	0
P2RX7	5027	broad.mit.edu	37	12	121600272	121600272	+	Translation_Start_Site	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:121600272C>A	ENST00000541446.1	+	0	409				P2RX7_ENST00000535250.1_Missense_Mutation_p.T71N|P2RX7_ENST00000328963.5_Intron|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.T161N|P2RX7_ENST00000546057.1_Missense_Mutation_p.T161N			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7							integral to membrane	ATP binding|ion channel activity|receptor activity	p.T161N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AACCAGAAGACCTGTGAAGTC	0.567000													10	93					3.07112e-06	3.707e-06	0.000978	1	0
HFE2	148738	broad.mit.edu	37	1	145416370	145416370	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:145416370G>C	ENST00000336751.5	+	4	953	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	HFE2_ENST00000357836.5_Missense_Mutation_p.E126Q|HFE2_ENST00000475797.1_Missense_Mutation_p.E13Q|HFE2_ENST00000497365.1_Missense_Mutation_p.E13Q	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	239					axon guidance	anchored to membrane		p.E239Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTATCAGGCTGAGGTGGATAA	0.458000													7	118					0	0	0.003080	0	0
EPRS	2058	broad.mit.edu	37	1	220145484	220145484	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:220145484G>A	ENST00000366923.3	-	30	4519	c.4250C>T	c.(4249-4251)tCt>tTt	p.S1417F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1417	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	p.S1417F(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	AAGGTCTTCAGAAGCCCTACC	0.328000													11	132					0	0	0.000978	0	0
OR4A5	81318	broad.mit.edu	37	11	51411635	51411635	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:51411635A>G	ENST00000319760.6	-	1	813	c.761T>C	c.(760-762)aTa>aCa	p.I254T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I254T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TCTAACATATATGAAAATACA	0.388000													5	78					0	0	0.000602	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233728	63233728	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:63233728C>A	ENST00000540857.1	-	5	703	c.571G>T	c.(571-573)Gat>Tat	p.D191Y	HRASLS5_ENST00000301790.4_Missense_Mutation_p.D201Y|HRASLS5_ENST00000539221.1_Missense_Mutation_p.D201Y	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	201								p.D201Y(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TACGTCCCATCTAGCTTGTTA	0.507000													12	71					1.61879e-10	2.21047e-10	0.001368	1	0
LTF	4057	broad.mit.edu	37	3	46480816	46480816	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:46480816G>A	ENST00000231751.4	-	15	2174	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	LTF_ENST00000426532.2_Missense_Mutation_p.R583C|LTF_ENST00000493056.1_5'UTR|LTF_ENST00000417439.1_Missense_Mutation_p.R625C	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	627	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.R627C(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGTTTCAGGCGTTCCACCTTA	0.547000													25	64					0	0	0.003330	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898775	130898775	+	Silent	SNP	C	C	T	rs138726483	by1000genomes	TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:130898775C>T	ENST00000261655.4	-	14	2710	c.2547G>A	c.(2545-2547)ccG>ccA	p.P849P		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	849	SH3 2.					cell junction|synapse		p.P849P(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGATCCGGGCCGGGAGCTCTT	0.557000													48	141					0	0	0.003610	0	0
WDR64	128025	broad.mit.edu	37	1	241904916	241904916	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:241904916A>C	ENST00000366552.2	+	11	1597	c.1390A>C	c.(1390-1392)Aac>Cac	p.N464H	WDR64_ENST00000437684.2_Missense_Mutation_p.N464H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	464								p.N184H(1)|p.N464H(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CATGCTTTACAACAAATATTT	0.348000													16	43					0	0	0.004007	0	0
ABCC3	8714	broad.mit.edu	37	17	48741471	48741471	+	Splice_Site	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:48741471A>T	ENST00000285238.8	+	10	1417	c.1338_splice	c.e10+1	p.Q446_splice	ABCC3_ENST00000427699.1_Splice_Site_p.Q446_splice	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	446	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	p.Q446L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTCCTCTGGCAGGTGACTCTC	0.552000													19	71					0	0	0.002299	0	0
CSNK1E	1454	broad.mit.edu	37	22	38698909	38698909	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:38698909C>T	ENST00000396832.1	-	4	553	c.293G>A	c.(292-294)cGc>cAc	p.R98H	CSNK1E_ENST00000400206.2_Missense_Mutation_p.R98H|CSNK1E_ENST00000359867.3_Missense_Mutation_p.R98H|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R98H|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R98H|CSNK1E_ENST00000413574.2_Missense_Mutation_p.R98H	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	98	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R98H(9)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GCTGAATTTGCGGGAACAGAA	0.612000													18	70					0	0	0.008871	0	0
RNF213	57674	broad.mit.edu	37	17	78293080	78293080	+	Missense_Mutation	SNP	T	T	C	rs149136204		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:78293080T>C	ENST00000582970.1	+	17	3135	c.2992T>C	c.(2992-2994)Tgc>Cgc	p.C998R	RNF213_ENST00000456466.1_Missense_Mutation_p.C998R|RNF213_ENST00000508628.2_Missense_Mutation_p.C1047R|RNF213_ENST00000319921.4_Missense_Mutation_p.C998R	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	998								p.C998R(2)|p.C1047R(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTTCGAGAAATGCATCATTGA	0.532000													29	85					0	0	0.007291	0	0
USP20	10868	broad.mit.edu	37	9	132630679	132630679	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:132630679G>T	ENST00000315480.4	+	11	1244	c.1086G>T	c.(1084-1086)gcG>gcT	p.A362A	USP20_ENST00000372429.3_Silent_p.A362A|USP20_ENST00000358355.1_Silent_p.A362A			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	362					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	p.A362A(2)|p.E362D(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ACCAGCCCGCGGAGGCCCAGC	0.672000													5	38					0.000602214	0.000666962	0.000602	1	0
UBXN1	51035	broad.mit.edu	37	11	62444113	62444113	+	Splice_Site	SNP	T	T	C	rs112293944		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:62444113T>C	ENST00000301935.5	-	9	1011		c.e9-2		UBXN1_ENST00000529640.1_Splice_Site|UBXN1_ENST00000533000.1_Splice_Site|UBXN1_ENST00000294119.2_3'UTR			Q04323	UBXN1_HUMAN	UBX domain protein 1						negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GCACGAGTCCTGAAGATGGAA	0.483000													6	27					0	0	0.001168	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533888	156533888	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:156533888G>T	ENST00000307851.4	-	2	874	c.144C>A	c.(142-144)ctC>ctA	p.L48L	HAVCR2_ENST00000522593.1_Silent_p.L48L|HAVCR2_ENST00000517358.1_5'UTR|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	48	Ig-like V-type.					integral to membrane		p.L48L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGACGGGCACGAGGTTCCCTG	0.552000													16	117					1.67942e-08	2.19711e-08	0.006122	1	0
TRAV10	28676	broad.mit.edu	37	14	22294192	22294192	+	RNA	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:22294192C>T	ENST00000390432.2	+	0	332																											CTGCACATCACAGCCTCCCAG	0.507000													9	59					0	0	0.006214	0	0
PCSK5	5125	broad.mit.edu	37	9	78804121	78804121	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:78804121G>C	ENST00000545128.1	+	19	3030	c.2492G>C	c.(2491-2493)gGa>gCa	p.G831A	PCSK5_ENST00000376752.4_Missense_Mutation_p.G831A	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	831	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.G831A(2)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCAGAGAATGGATACAAATCC	0.428000													5	54					0	0	0.001168	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	60					0	0	0.004672	0	0
PCLO	27445	broad.mit.edu	37	7	82784218	82784218	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:82784218G>A	ENST00000423517.2	-	2	2076	c.1739C>T	c.(1738-1740)cCt>cTt	p.P580L	PCLO_ENST00000333891.8_Missense_Mutation_p.P580L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	526	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P580L(2)|p.P526L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCTTGTGAAGGAGGCTGTTT	0.473000													103	309					0	0	0.003610	0	0
CEP152	22995	broad.mit.edu	37	15	49031278	49031278	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:49031278A>G	ENST00000380950.2	-	27	4488	c.4301T>C	c.(4300-4302)gTg>gCg	p.V1434A	CEP152_ENST00000399334.3_Missense_Mutation_p.V1378A	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1378					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.V1378A(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTGGATCCCACATGCTTTAT	0.458000													32	126					0	0	0.002096	0	0
STAU2	27067	broad.mit.edu	37	8	74515976	74515976	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:74515976T>C	ENST00000355780.5	-	9	1136	c.918A>G	c.(916-918)cgA>cgG	p.R306R	STAU2_ENST00000523558.1_Silent_p.R166R|STAU2_ENST00000521727.1_Silent_p.R318R|STAU2_ENST00000522695.1_Silent_p.R306R|STAU2_ENST00000519961.1_Silent_p.R338R|STAU2_ENST00000522509.1_Silent_p.R306R|STAU2_ENST00000521210.1_Silent_p.R234R|STAU2_ENST00000524300.1_Silent_p.R338R|STAU2_ENST00000517542.1_Silent_p.R300R|STAU2_ENST00000521451.1_Silent_p.R118R	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	338					transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.R306R(1)|p.R234R(1)|p.R338R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TCACAAATTCTCGACGTCGAG	0.428000													4	49					0	0	0.009096	0	0
UBE3B	89910	broad.mit.edu	37	12	109935654	109935654	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:109935654C>G	ENST00000342494.3	+	10	1340	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	UBE3B_ENST00000280774.5_Missense_Mutation_p.L249V|UBE3B_ENST00000434735.2_Missense_Mutation_p.L249V	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	249					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.L249V(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCAGACAATCTGATTCGGCC	0.527000													9	153					0	0	0.008291	0	0
TMC4	147798	broad.mit.edu	37	19	54675802	54675802	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:54675802G>A	ENST00000376591.4	-	2	279	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	TMC4_ENST00000301187.4_Missense_Mutation_p.R44W	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	50						integral to membrane		p.R44W(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTCGGTACCGAAGGGTGGCA	0.642000													5	58					0	0	0.000602	0	0
SCRN3	79634	broad.mit.edu	37	2	175260535	175260535	+	Silent	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:175260535T>G	ENST00000409673.3	+	1	63	c.51T>G	c.(49-51)gcT>gcG	p.A17A	SCRN3_ENST00000272732.6_5'UTR			Q0VDG4	SCRN3_HUMAN	secernin 3	23					proteolysis		dipeptidase activity	p.A17A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TTCGGGTAGCTGGGAGGCCAG	0.642000													3	8					0	0	0.004672	0	0
RYR2	6262	broad.mit.edu	37	1	237870252	237870252	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:237870252T>C	ENST00000366574.2	+	68	9901	c.9584T>C	c.(9583-9585)cTc>cCc	p.L3195P	RYR2_ENST00000542537.1_Missense_Mutation_p.L3179P|RYR2_ENST00000360064.6_Missense_Mutation_p.L3193P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3195					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L3193P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTCCAGCTCTCAGTTTGCCA	0.398000													30	163					0	0	0.002836	0	0
RORB	6096	broad.mit.edu	37	9	77275562	77275562	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:77275562C>T	ENST00000376896.2	+	5	1279	c.667C>T	c.(667-669)Cat>Tat	p.H223Y	RORB_ENST00000396204.2_Missense_Mutation_p.H234Y	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	234	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.H223Y(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CATTAAGTCCCATTTGGAGAC	0.393000													16	72					0	0	0.004990	0	0
BCL7A	605	broad.mit.edu	37	12	122492852	122492852	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:122492852A>T	ENST00000538010.1	+	5	3251	c.581A>T	c.(580-582)cAg>cTg	p.Q194L	BCL7A_ENST00000261822.4_Intron	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	187					negative regulation of transcription, DNA-dependent			p.Q194L(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		TCGAGGTCTCAGAGGGGCAGC	0.557000			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	126					0	0	0.002299	0	0
FMN2	56776	broad.mit.edu	37	1	240371687	240371687	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:240371687G>T	ENST00000319653.9	+	5	3805	c.3575G>T	c.(3574-3576)gGa>gTa	p.G1192V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1192	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G1335V(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTACCTGGAGTGGGAATA	0.672000													7	19					8.12818e-05	9.34345e-05	0.001984	1	0
ZFYVE21	79038	broad.mit.edu	37	14	104194095	104194095	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:104194095C>T	ENST00000216602.6	+	3	314	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ZFYVE21_ENST00000311141.2_Missense_Mutation_p.R68C	NM_001198953.1	NP_001185882.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	68						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding	p.R68C(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		CCACTGTCGCCGCTGCGGGAA	0.711000													6	21					0	0	0.001984	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242215	18242215	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:18242215C>A	ENST00000377369.2	+	2	283	c.10C>A	c.(10-12)Cgg>Agg	p.R4R	SLC39A12_ENST00000377371.3_Silent_p.R4R|SLC39A12_ENST00000377374.4_Silent_p.R4R|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	4					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.F3L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATGTGCTTCCGGACAAAGCT	0.488000													16	62					4.7546e-09	6.25885e-09	0.004007	1	0
UBE3D	90025	broad.mit.edu	37	6	83733734	83733734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:83733734C>A	ENST00000369747.3	-	6	813	c.691G>T	c.(691-693)Gag>Tag	p.E231*		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	231						cytoplasm	ligase activity	p.E231*(1)									ATAATTATCTCTGTCATATAA	0.294000													9	38					3.07112e-06	3.707e-06	0.000978	1	0
KIF2C	11004	broad.mit.edu	37	1	45223725	45223725	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:45223725G>T	ENST00000372217.1	+	12	1326	c.975G>T	c.(973-975)cgG>cgT	p.R325R	KIF2C_ENST00000372224.4_Silent_p.R379R|KIF2C_ENST00000372218.4_Silent_p.R338R|KIF2C_ENST00000372222.3_Silent_p.R266R			Q99661	KIF2C_HUMAN	kinesin family member 2C	379	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	p.R379R(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CCTCAGCCCGGGACGTCTTCC	0.522000													15	96					1.02788e-11	1.42747e-11	0.004990	1	0
KIAA1549	57670	broad.mit.edu	37	7	138545903	138545903	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:138545903C>A	ENST00000440172.1	-	16	5277	c.5229G>T	c.(5227-5229)acG>acT	p.T1743T	KIAA1549_ENST00000422774.1_Silent_p.T1743T|KIAA1549_ENST00000242365.4_Silent_p.T1693T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1743						integral to membrane		p.T1693T(1)|p.T1743T(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GATTGTTGGCCGTCTGGGCTG	0.597000			O	BRAF	pilocytic astrocytoma								9	39					7.48243e-07	9.20981e-07	0.006214	1	0
ADAM7	8756	broad.mit.edu	37	8	24359041	24359041	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:24359041G>A	ENST00000175238.6	+	20	2243	c.2160G>A	c.(2158-2160)gaG>gaA	p.E720E	RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Silent_p.E720E|ADAM7_ENST00000520720.1_Silent_p.E492E|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	720					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.E720E(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGGTGATGAGCAGCAGATAA	0.358000													8	88					0	0	0.003080	0	0
CBX6	23466	broad.mit.edu	37	22	39262858	39262858	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:39262858G>T	ENST00000407418.3	-	5	718	c.595C>A	c.(595-597)Cgc>Agc	p.R199S	CBX6_ENST00000216083.6_Missense_Mutation_p.R181S			O95503	CBX6_HUMAN	chromobox homolog 6	199					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		p.R199S(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					ACTTTggggcgggccagcgcc	0.677000													9	26					0.00448238	0.00485286	0.004482	1	0
PCDH20	64881	broad.mit.edu	37	13	61986682	61986682	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:61986682A>C	ENST00000409186.1	-	5	3655	c.1550T>G	c.(1549-1551)gTc>gGc	p.V517G	PCDH20_ENST00000409204.4_Missense_Mutation_p.V517G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	490	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V490G(1)|p.V517G(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GACCCTTTTGACATGAAATCC	0.383000													12	156					0	0	0.001855	0	0
PRKCSH	5589	broad.mit.edu	37	19	11552077	11552077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:11552077G>T	ENST00000252455.2	+	6	709	c.373G>T	c.(373-375)Gag>Tag	p.E125*	PRKCSH_ENST00000591462.1_Nonsense_Mutation_p.E125*|PRKCSH_ENST00000592741.1_Nonsense_Mutation_p.E125*|PRKCSH_ENST00000587327.1_Nonsense_Mutation_p.E125*|PRKCSH_ENST00000412601.1_Nonsense_Mutation_p.E125*|PRKCSH_ENST00000589838.1_Nonsense_Mutation_p.E125*	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	125					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	p.E125*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TAAGGAGAGAGAGTCCCTGCA	0.572000													22	74					3.10358e-05	3.63054e-05	0.002299	1	0
AGAP7	653268	broad.mit.edu	37	10	51472576	51472576	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:51472576T>A	ENST00000374095.5	-	4	529	c.404A>T	c.(403-405)cAt>cTt	p.H135L		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	135					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H135L(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TGTAAGATAATGCTGGATGGC	0.388000													14	123					0	0	0.008871	0	0
MAP3K2	10746	broad.mit.edu	37	2	128072409	128072409	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:128072409C>A	ENST00000409947.1	-	15	1659	c.1377G>T	c.(1375-1377)gtG>gtT	p.V459V	MAP3K2_ENST00000344908.5_Silent_p.V459V			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	459	Protein kinase.			V -> G (in Ref. 1; AAD28547).	activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	p.V459V(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		ATTTCCTAGTCACATTCTCAG	0.348000													6	33					0.000157383	0.000179746	0.003080	1	0
ELTD1	64123	broad.mit.edu	37	1	79401979	79401979	+	Splice_Site	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:79401979C>A	ENST00000370742.3	-	7	941		c.e7+1			NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1						neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.?(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TAAAGTCCTACCATTTGAATC	0.279000													24	185					1.85244e-09	2.46605e-09	0.003330	1	0
HERC5	51191	broad.mit.edu	37	4	89383387	89383387	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:89383387G>C	ENST00000264350.3	+	4	721	c.568G>C	c.(568-570)Gga>Cga	p.G190R	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	190					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	p.G190R(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GCACCTCGCAGGAGTACCCTT	0.507000													8	40					0	0	0.003080	0	0
SPG11	80208	broad.mit.edu	37	15	44865871	44865871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:44865871G>A	ENST00000261866.7	-	32	6095	c.6079C>T	c.(6079-6081)Cag>Tag	p.Q2027*	SPG11_ENST00000535302.2_Intron|SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q2027*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.Q2027*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2027					cell death	cytosol|integral to membrane|nucleus	protein binding	p.Q2027*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCAGGCTGCTGAGAGGCCAAG	0.557000													6	36					0	0	0.003080	0	0
ABCA2	20	broad.mit.edu	37	9	139909475	139909475	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:139909475T>C	ENST00000265662.5	-	25	3919	c.3772A>G	c.(3772-3774)Atc>Gtc	p.I1258V	ABCA2_ENST00000341511.6_Missense_Mutation_p.I1258V|ABCA2_ENST00000371605.3_Missense_Mutation_p.I1257V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1257					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.I1258V(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGCTTGCGGATGAACTGGGAC	0.672000													5	64					0	0	0.001168	0	0
NALCN	259232	broad.mit.edu	37	13	101760057	101760057	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:101760057C>A	ENST00000251127.6	-	21	2529	c.2448G>T	c.(2446-2448)gaG>gaT	p.E816D		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	816						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.E816D(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCTTTTCATCTCTGCTTGCT	0.388000													17	58					3.52763e-06	4.24837e-06	0.004990	1	0
KCNA4	3739	broad.mit.edu	37	11	30033301	30033301	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:30033301T>G	ENST00000328224.6	-	2	2158	c.925A>C	c.(925-927)Ata>Cta	p.I309L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	309						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.I309L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACAATGGCTATGCCCCTTGCA	0.493000													11	54					0	0	0.000978	0	0
POLR3A	11128	broad.mit.edu	37	10	79782083	79782083	+	Silent	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:79782083A>T	ENST00000372371.3	-	6	842	c.705T>A	c.(703-705)gtT>gtA	p.V235V		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	235					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.V235V(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GAAGTAGAGGAACATCTTCAG	0.423000													10	50					0	0	0.006214	0	0
ICAM3	3385	broad.mit.edu	37	19	10446542	10446542	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:10446542C>A	ENST00000589261.1	-	3	755	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L	ICAM3_ENST00000160262.5_Missense_Mutation_p.V152L			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	152	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	p.V152L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			AGCAGCACCACCGTGAGGCTG	0.697000													3	11					0.00024832	0.000279097	0.009096	1	0
SERPINE3	647174	broad.mit.edu	37	13	51921265	51921265	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:51921265C>G	ENST00000524365.1	+	6	1220	c.595C>G	c.(595-597)Cga>Gga	p.R199G	SERPINE3_ENST00000521255.1_Missense_Mutation_p.R199G|SERPINE3_ENST00000400389.4_Missense_Mutation_p.R199G			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	199					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R199G(1)		ovary(2)	2						AGGCACTTGGCGAAAGAGATT	0.582000													4	16					0	0	0.009096	0	0
CNOT7	29883	broad.mit.edu	37	8	17102606	17102606	+	Missense_Mutation	SNP	T	T	A	rs142912321		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:17102606T>A	ENST00000361272.4	-	2	354	c.56A>T	c.(55-57)aAc>aTc	p.N19I	CNOT7_ENST00000523917.1_Missense_Mutation_p.N19I|CNOT7_ENST00000518885.1_5'UTR	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	19					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.N19I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		TTCATCCAAGTTGCAAGCCCA	0.393000													12	53					0	0	0.000978	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907644	12907644	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:12907644G>T	ENST00000317869.6	-	2	724	c.499C>A	c.(499-501)Cgg>Agg	p.R167R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.R167W(1)|p.R167R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GAAGATCCCCGCTTTCCACTC	0.478000													46	363					1.00776e-21	1.50596e-21	0.003610	1	0
HOXA3	3200	broad.mit.edu	37	7	27147572	27147572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:27147572C>A	ENST00000396352.4	-	3	1493	c.1294G>T	c.(1294-1296)Gga>Tga	p.G432*	HOXA3_ENST00000317201.2_Nonsense_Mutation_p.G432*|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	432					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G432*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGAATTCTTCCCTGAGAAGGA	0.662000													13	78					6.72482e-11	9.2065e-11	0.003163	1	0
MEGF9	1955	broad.mit.edu	37	9	123370269	123370269	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:123370269A>G	ENST00000373930.3	-	5	1218	c.1107T>C	c.(1105-1107)ccT>ccC	p.P369P	MEGF9_ENST00000426959.1_Silent_p.P406P	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	369	Laminin EGF-like 4.					integral to membrane	calcium ion binding	p.P406P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						GGTCACATTCAGGTTCCAATT	0.353000													3	86					0	0	0.004672	0	0
RFX4	5992	broad.mit.edu	37	12	107080806	107080806	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:107080806C>T	ENST00000392842.1	+	6	936	c.522C>T	c.(520-522)ctC>ctT	p.L174L	RFX4_ENST00000357881.4_Silent_p.L183L|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.L80L	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	174					transcription, DNA-dependent	nucleus	DNA binding	p.L80L(1)|p.L174L(1)|p.L183L(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GGTCCAAACTCGGAACACTGC	0.488000													17	125					0	0	0.006122	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355671	33355671	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:33355671G>A	ENST00000023064.4	-	3	290	c.99C>T	c.(97-99)atC>atT	p.I33I	SLC7A9_ENST00000590341.1_Silent_p.I33I|SLC7A9_ENST00000587772.1_Silent_p.I33I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	33					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	p.I33I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AGATGCCACTGATGAGGCCCA	0.637000													17	158					0	0	0.004990	0	0
KEAP1	9817	broad.mit.edu	37	19	10599997	10599997	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:10599997C>A	ENST00000171111.5	-	5	2126	c.1579G>T	c.(1579-1581)Ggt>Tgt	p.G527C	KEAP1_ENST00000393623.2_Missense_Mutation_p.G527C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G527F(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGGTCCTGACCATCATAGCCC	0.587000													8	20					0.000442599	0.000493275	0.006214	1	0
TAAR1	134864	broad.mit.edu	37	6	132966315	132966315	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:132966315A>T	ENST00000275216.1	-	1	827	c.828T>A	c.(826-828)ttT>ttA	p.F276L		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	276						plasma membrane		p.F276L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	TGTAGTGAAGAAAAGGGTCCA	0.368000													19	65					0	0	0.001882	0	0
ACAN	176	broad.mit.edu	37	15	89385009	89385009	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:89385009A>G	ENST00000439576.2	+	5	1042	c.668A>G	c.(667-669)gAc>gGc	p.D223G	ACAN_ENST00000561243.1_Missense_Mutation_p.D223G|ACAN_ENST00000559004.1_Missense_Mutation_p.D223G|ACAN_ENST00000352105.7_Missense_Mutation_p.D223G|ACAN_ENST00000558207.1_Missense_Mutation_p.D223G	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	223					cell adhesion		hyaluronic acid binding|sugar binding	p.D223G(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCTATGGAGACAAGGATGAG	0.577000													7	64					0	0	0.001984	0	0
AKAP12	9590	broad.mit.edu	37	6	151626887	151626887	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:151626887A>G	ENST00000402676.2	+	3	408	c.168A>G	c.(166-168)ctA>ctG	p.L56L	AKAP12_ENST00000253332.1_Silent_p.L56L	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	56					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.L56L(2)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CATAGCTCCTACAGAAGAATG	0.463000													8	34					0	0	0.000978	0	0
RADIL	55698	broad.mit.edu	37	7	4917241	4917241	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:4917241G>A	ENST00000399583.3	-	2	717	c.530C>T	c.(529-531)aCg>aTg	p.T177M	RADIL_ENST00000536091.1_Missense_Mutation_p.T177M	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	177					cell adhesion|multicellular organismal development|signal transduction		protein binding	p.T177I(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTCACCTGCCGTGATGGTGTC	0.617000													13	47					0	0	0.002450	0	0
OPA1	4976	broad.mit.edu	37	3	193360615	193360615	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:193360615A>T	ENST00000361510.2	+	12	1445	c.1211A>T	c.(1210-1212)gAt>gTt	p.D404V	OPA1_ENST00000361908.3_Missense_Mutation_p.D386V|OPA1_ENST00000361828.2_Missense_Mutation_p.D367V|OPA1_ENST00000392438.3_Missense_Mutation_p.D349V|OPA1_ENST00000361715.2_Missense_Mutation_p.D368V|OPA1_ENST00000361150.2_Missense_Mutation_p.D350V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	349					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	p.D404V(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CGGGAGTTTGATCTTACCAAA	0.338000													9	107					0	0	0.004482	0	0
GSX2	170825	broad.mit.edu	37	4	54966627	54966627	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:54966627C>A	ENST00000326902.2	+	1	430	c.116C>A	c.(115-117)cCc>cAc	p.P39H	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Missense_Mutation_p.P39H	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	39						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P39H(1)		endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GGCATGCCGCCCCCATTGGTG	0.662000													6	24					2.0095e-06	2.45066e-06	0.001984	1	0
VPS13C	54832	broad.mit.edu	37	15	62250877	62250877	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:62250877C>A	ENST00000261517.5	-	37	4168	c.4095G>T	c.(4093-4095)agG>agT	p.R1365S	VPS13C_ENST00000395896.4_Missense_Mutation_p.R1365S|VPS13C_ENST00000395898.3_Missense_Mutation_p.R1322S|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1322S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1365					protein localization			p.R1365S(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGTTAGTATCCTAAATAAAA	0.294000													22	165					5.26018e-13	7.42161e-13	0.001882	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144882856	144882856	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:144882856C>G	ENST00000369359.4	-	27	3612	c.3574G>C	c.(3574-3576)Gag>Cag	p.E1192Q	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1121Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1055Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1192Q|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1055Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1055					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.E1055Q(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCGCATTCTCAAGGCAAAGG	0.498000			T	PDGFRB	MPD								22	398					0	0	0.001882	0	0
DDX10	1662	broad.mit.edu	37	11	108549087	108549087	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:108549087G>T	ENST00000526794.1	+	5	615	c.583G>T	c.(583-585)Gtg>Ttg	p.V195L	DDX10_ENST00000322536.3_Missense_Mutation_p.V195L			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	195	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.V195L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAATATACTCGTGTGCACACC	0.388000			T	NUP98	AML*								17	55					3.99206e-14	5.72375e-14	0.007413	1	0
DPY19L3	147991	broad.mit.edu	37	19	32928177	32928177	+	Silent	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:32928177A>T	ENST00000342179.5	+	6	743	c.528A>T	c.(526-528)atA>atT	p.I176I	DPY19L3_ENST00000586987.1_Silent_p.I176I|DPY19L3_ENST00000392250.2_Silent_p.I176I	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	176						integral to membrane		p.I176I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTCTCTACATAACCAGCTGGC	0.398000													13	82					0	0	0.002450	0	0
UBAP1	51271	broad.mit.edu	37	9	34249871	34249871	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:34249871G>A	ENST00000536252.1	+	6	1576	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q	UBAP1_ENST00000545103.1_Missense_Mutation_p.R457Q|UBAP1_ENST00000543944.1_Missense_Mutation_p.R429Q|UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000540348.1_Missense_Mutation_p.R393Q|UBAP1_ENST00000297661.4_Missense_Mutation_p.R393Q|UBAP1_ENST00000359544.2_Missense_Mutation_p.R393Q	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	393	UBA 1.					cytoplasm		p.R457Q(1)|p.R393Q(1)		endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CCCAGCGAGCGGCAGTGTGTG	0.552000													15	68					0	0	0.003163	0	0
MYO1B	4430	broad.mit.edu	37	2	192278789	192278789	+	Missense_Mutation	SNP	C	C	G	rs1140896		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:192278789C>G	ENST00000392318.3	+	28	3136	c.2889C>G	c.(2887-2889)ttC>ttG	p.F963L	MYO1B_ENST00000339514.4_Missense_Mutation_p.F905L|MYO1B_ENST00000392316.1_Missense_Mutation_p.F934L|MYO1B_ENST00000439065.2_Missense_Mutation_p.F208L|MYO1B_ENST00000304164.4_Missense_Mutation_p.F963L	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	963						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.F963L(1)|p.F905L(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGCAACCATTCCAAGGGGCTT	0.358000													22	109					0	0	0.001882	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618205	77618205	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:77618205C>G	ENST00000521891.2	+	2	2330	c.1882C>G	c.(1882-1884)Ctt>Gtt	p.L628V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L628V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L628V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L628V|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	628						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L628V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCGAGGTCTCTTGGTGGTCA	0.542000										HNSCC(33;0.089)			7	46					0	0	0.001984	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367459	234367459	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:234367459G>A	ENST00000366618.3	+	3	725	c.580G>A	c.(580-582)Gag>Aag	p.E194K	SLC35F3_ENST00000366617.3_Missense_Mutation_p.E125K	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	125					transport	integral to membrane		p.E194K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CAAGTCCACAGAGAAGCAGTC	0.587000													21	111					0	0	0.001882	0	0
GLRA2	2742	broad.mit.edu	37	X	14599363	14599363	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:14599363G>T	ENST00000218075.4	+	4	859	c.329G>T	c.(328-330)aGt>aTt	p.S110I	GLRA2_ENST00000355020.4_Missense_Mutation_p.S110I|GLRA2_ENST00000443437.2_Missense_Mutation_p.S21I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	110					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.S110I(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CTGGCGTACAGTGAGTACCCA	0.478000													35	85					9.8876e-21	1.46929e-20	0.004878	1	0
KIAA1109	84162	broad.mit.edu	37	4	123128714	123128714	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:123128714G>A	ENST00000264501.4	+	17	2046	c.1673G>A	c.(1672-1674)gGa>gAa	p.G558E	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.G558E|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G558E			Q2LD37	K1109_HUMAN	KIAA1109	558					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.G558E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCAGCCTGTGGAGAAACACTA	0.284000													9	38					0	0	0.004482	0	0
MUC5B	727897	broad.mit.edu	37	11	1267460	1267460	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:1267460G>T	ENST00000447027.1	+	31	9417	c.9359G>T	c.(9358-9360)aGg>aTg	p.R3120M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.R3117M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3117	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.R3117L(1)|p.R3096L(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGACAAGGGCCACCAGT	0.637000													15	83					2.61681e-11	3.61046e-11	0.002450	1	0
ADCYAP1	116	broad.mit.edu	37	18	905418	905418	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr18:905418C>A	ENST00000579794.1	+	1	309	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	RP11-672L10.2_ENST00000581719.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.L11M	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	11					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	p.L11M(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GAGGCTGGCCCTGCTGGTCTA	0.632000													14	56					1.49906e-05	1.76722e-05	0.002450	1	0
CCDC147	159686	broad.mit.edu	37	10	106118130	106118130	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:106118130C>A	ENST00000369704.3	+	2	175	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	14								p.S14Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CTGGAAGAATCTGCATTTGAA	0.383000													5	32					1.23904e-05	1.46721e-05	0.000602	1	0
IRX6	79190	broad.mit.edu	37	16	55362640	55362640	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:55362640G>T	ENST00000290552.7	+	5	2082	c.750G>T	c.(748-750)ggG>ggT	p.G250G	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	250						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G250G(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AGGCCCGGGGGCTCCGGCTGA	0.612000													7	58					0.00198382	0.00217217	0.001984	1	0
MYBPH	4608	broad.mit.edu	37	1	203144721	203144721	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:203144721G>T	ENST00000255416.4	-	1	220	c.163C>A	c.(163-165)Cct>Act	p.P55T		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	55					cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	p.P55T(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GAGGCTGTAGGGGCCTGTGGG	0.657000													28	143					6.70999e-13	9.44204e-13	0.004289	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33881488	33881488	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:33881488G>A	ENST00000504830.1	-	2	560	c.225C>T	c.(223-225)atC>atT	p.I75I	ADAMTS12_ENST00000352040.3_Silent_p.I75I|ADAMTS12_ENST00000515401.1_Silent_p.I75I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	75					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.I75I(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCTGCTCGTGATGGGATAGT	0.493000										HNSCC(64;0.19)			105	167					0	0	0.003610	0	0
CD1E	913	broad.mit.edu	37	1	158325127	158325127	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:158325127G>C	ENST00000444681.2	+	2	389	c.96G>C	c.(94-96)atG>atC	p.M32I	CD1E_ENST00000368160.3_Missense_Mutation_p.M131I|CD1E_ENST00000434258.1_Missense_Mutation_p.M129I|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.M131I|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000464822.1_3'UTR|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.M131I|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.M131I|CD1E_ENST00000368154.1_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	131					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.M131I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCTGTAGAATGAATGCCCCAC	0.448000													37	200					0	0	0.004878	0	0
AOAH	313	broad.mit.edu	37	7	36579924	36579924	+	Splice_Site	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:36579924C>T	ENST00000431169.1	-	16	1607		c.e16+1		AOAH_ENST00000535891.1_Splice_Site|AOAH_ENST00000491444.1_Splice_Site|AOAH_ENST00000258749.5_Splice_Site|AOAH_ENST00000538464.1_Splice_Site	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)						inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CAAACTGATACCGAGAGGATG	0.358000													5	21					0	0	0.001168	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7995187	7995187	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:7995187T>A	ENST00000377507.3	-	6	596	c.430A>T	c.(430-432)Aag>Tag	p.K144*		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	144					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.K144*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		AGCACAGACTTTCCATCCAAA	0.463000													7	45					0	0	0.003080	0	0
GP9	2815	broad.mit.edu	37	3	128780876	128780876	+	Silent	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:128780876C>G	ENST00000307395.4	+	3	516	c.294C>G	c.(292-294)ctC>ctG	p.L98L		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	98	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	p.L98L(1)		NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	ATCTGCGCCTCTGGCTGGAGG	0.706000													3	35					0	0	0.000602	0	0
OR11H6	122748	broad.mit.edu	37	14	20692166	20692166	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:20692166C>A	ENST00000315519.2	+	1	376	c.298C>A	c.(298-300)Cta>Ata	p.L100I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L100I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CCCAAACATGCTAGTCAATAT	0.423000													9	105					0.00448238	0.00485286	0.004482	1	0
HRH2	3274	broad.mit.edu	37	5	175110497	175110497	+	Silent	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:175110497C>G	ENST00000231683.2	+	1	2034	c.261C>G	c.(259-261)ggC>ggG	p.G87G	HRH2_ENST00000377291.2_Silent_p.G87G	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	87					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	p.G87G(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGAGCTTTGGCAAGGTCTTCT	0.537000													16	54					0	0	0.004990	0	0
ZNF460	10794	broad.mit.edu	37	19	57803220	57803220	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:57803220G>C	ENST00000360338.3	+	3	1633	c.1311G>C	c.(1309-1311)agG>agC	p.R437S	ZNF460_ENST00000537645.1_Missense_Mutation_p.R396S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R437S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCTCACAAGGCACCAGTGGA	0.478000													13	60					0	0	0.002450	0	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775547	27775547	+	Silent	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:27775547C>G	ENST00000377401.2	-	1	162	c.138G>C	c.(136-138)ctG>ctC	p.L46L		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	46					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L46L(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						GGACCTGCTTCAGCACCTTGT	0.582000													34	268					0	0	0.003755	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299756	107299756	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:107299756A>G	ENST00000282251.5	-	8	1229	c.1202T>C	c.(1201-1203)tTg>tCg	p.L401S	CWF19L2_ENST00000433523.1_Missense_Mutation_p.L401S	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	401							catalytic activity	p.L401S(1)|p.L247S(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ACCACTACACAAAGAGCCCTG	0.413000													32	121					0	0	0.009535	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173881122	173881122	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:173881122C>A	ENST00000264111.6	+	19	2039	c.1852C>A	c.(1852-1854)Ctc>Atc	p.L618I	RAPGEF4_ENST00000397087.3_Missense_Mutation_p.L475I|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.L619I|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.L448I|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.L399I|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.L466I|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.L619I|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.L466I			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	619	N-terminal Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	p.L619I(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GATTGCTGCCCTCAAGGAGCA	0.433000													15	76					1.99824e-07	2.5031e-07	0.004990	1	0
HSD17B3	3293	broad.mit.edu	37	9	99003063	99003063	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:99003063C>T	ENST00000375263.3	-	10	846	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Intron	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	267					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	p.G267S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	GCAAGGCAGCCACAGGTTTCA	0.458000													3	47					0	0	0.004672	0	0
RXRG	6258	broad.mit.edu	37	1	165398074	165398074	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:165398074C>A	ENST00000359842.5	-	2	481	c.179G>T	c.(178-180)gGg>gTg	p.G60V		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	60	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.G60V(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGGGGGGTCCCCACTGCACT	0.602000													4	65					0.00909568	0.009748	0.009096	1	0
CACNA1F	778	broad.mit.edu	37	X	49083471	49083471	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:49083471C>T	ENST00000376265.2	-	9	1298	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	CACNA1F_ENST00000323022.5_Missense_Mutation_p.E413K|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E348K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	413					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.E413K(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATGTCCAGCTCTTCGGCTTGA	0.607000													9	31					0	0	0.004482	0	0
MANBAL	63905	broad.mit.edu	37	20	35929811	35929811	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:35929811G>A	ENST00000373605.3	+	3	957	c.145G>A	c.(145-147)Gag>Aag	p.E49K	MANBAL_ENST00000397151.1_Missense_Mutation_p.E49K|MANBAL_ENST00000397150.1_Missense_Mutation_p.E49K|MANBAL_ENST00000373606.3_Missense_Mutation_p.E49K|MANBAL_ENST00000397152.3_Missense_Mutation_p.E49K|MANBAL_ENST00000397156.3_Missense_Mutation_p.E49K			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	49						integral to membrane		p.E49K(1)		large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				CAAGTCCCACGAGGCGGTGAG	0.567000													20	84					0	0	0.002780	0	0
OR4M1	441670	broad.mit.edu	37	14	20249188	20249188	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:20249188A>T	ENST00000315957.4	+	1	788	c.707A>T	c.(706-708)aAc>aTc	p.N236I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N236I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGAATACCAACAGGGCCATG	0.463000													50	495					0	0	0.003610	0	0
CDCA2	157313	broad.mit.edu	37	8	25337527	25337527	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:25337527G>T	ENST00000330560.3	+	8	1396	c.919G>T	c.(919-921)Gtc>Ttc	p.V307F	CDCA2_ENST00000380665.3_Missense_Mutation_p.V292F|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	307					cell division|mitosis	cytoplasm|nucleus		p.V307F(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGTCCCTGATGTCAGGTCACC	0.522000													7	65					5.18039e-06	6.19661e-06	0.003080	1	0
PXDNL	137902	broad.mit.edu	37	8	52412322	52412322	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:52412322T>C	ENST00000356297.4	-	5	489	c.389A>G	c.(388-390)cAt>cGt	p.H130R	PXDNL_ENST00000543296.1_Missense_Mutation_p.H130R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	130					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.H130R(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTGGTTGAAATGAATATACCT	0.388000													19	113					0	0	0.002780	0	0
OR5B2	390190	broad.mit.edu	37	11	58190721	58190721	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:58190721G>A	ENST00000302581.2	-	1	65	c.14C>T	c.(13-15)aCg>aTg	p.T5M		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T5M(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGTCACTTCCGTACAATTCTC	0.368000													7	51					0	0	0.003080	0	0
SCRN2	90507	broad.mit.edu	37	17	45917699	45917699	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:45917699C>A	ENST00000407215.3	-	3	295	c.214G>T	c.(214-216)Gct>Tct	p.A72S	SCRN2_ENST00000584123.1_Missense_Mutation_p.A80S|SCRN2_ENST00000290216.9_Missense_Mutation_p.A72S			Q96FV2	SCRN2_HUMAN	secernin 2	72					proteolysis		dipeptidase activity	p.A72S(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						AGAATCACAGCGTGCGTCTTC	0.597000													6	47					5.18039e-06	6.19661e-06	0.003080	1	0
ACTN1	87	broad.mit.edu	37	14	69346715	69346715	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:69346715C>T	ENST00000193403.6	-	18	2627	c.2244G>A	c.(2242-2244)atG>atA	p.M748I	ACTN1_ENST00000376839.3_Missense_Mutation_p.M683I|ACTN1_ENST00000394419.4_Missense_Mutation_p.M748I|ACTN1_ENST00000438964.2_Missense_Mutation_p.M748I|ACTN1_ENST00000538545.2_Missense_Mutation_p.M748I	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	748	EF-hand 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	p.M748I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGAACTCATTCATCTGCTCCT	0.617000													12	46					0	0	0.001855	0	0
IFNA4	3441	broad.mit.edu	37	9	21187075	21187075	+	Silent	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:21187075A>T	ENST00000421715.1	-	1	523	c.456T>A	c.(454-456)ctT>ctA	p.L152L		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	152					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.L152L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGTTAGATAAAGAGTGATTC	0.443000													30	245					0	0	0.003610	0	0
PRTG	283659	broad.mit.edu	37	15	55965661	55965661	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:55965661T>C	ENST00000389286.4	-	10	1807	c.1760A>G	c.(1759-1761)tAc>tGc	p.Y587C		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	587	Fibronectin type-III 2.				multicellular organismal development	integral to membrane		p.Y587C(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CCGAACCAGGTAGACACTGTC	0.507000													16	89					0	0	0.006122	0	0
ACACA	31	broad.mit.edu	37	17	35608975	35608975	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:35608975C>T	ENST00000353139.5	-	16	2518	c.2037G>A	c.(2035-2037)gtG>gtA	p.V679V	ACACA_ENST00000360679.3_Silent_p.V584V|ACACA_ENST00000335166.5_Silent_p.V564V|ACACA_ENST00000394406.2_Silent_p.V642V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	642					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.V584V(1)|p.V679V(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCGCAGGCTCACATCTGCCA	0.507000													5	103					0	0	0.001168	0	0
DISC1	27185	broad.mit.edu	37	1	231931037	231931037	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:231931037A>G	ENST00000439617.2	+	7	1737	c.1684A>G	c.(1684-1686)Act>Gct	p.T562A	DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.T562A|DISC1_ENST00000366633.3_Missense_Mutation_p.T562A|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.T562A|DISC1_ENST00000539444.1_Missense_Mutation_p.T562A|DISC1_ENST00000366636.4_Missense_Mutation_p.T562A|DISC1_ENST00000537876.1_Intron	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	562	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	p.T562A(2)|p.T594A(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AGAAATCACTACTAAGGTAAG	0.358000													8	44					0	0	0.003080	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94667361	94667361	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:94667361C>G	ENST00000260526.6	-	12	1378	c.1196G>C	c.(1195-1197)aGa>aCa	p.R399T		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	399					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.R399T(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCATTTCTTCTTTCTTCAAC	0.299000													4	22					0	0	0.009096	0	0
ACAP3	116983	broad.mit.edu	37	1	1231130	1231130	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:1231130G>A	ENST00000354700.5	-	18	1893	c.1691C>T	c.(1690-1692)gCc>gTc	p.A564V	ACAP3_ENST00000353662.3_Missense_Mutation_p.A522V	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	564					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.A522V(1)|p.A564V(1)		endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGACAGAGCGGCCACACAGGG	0.711000													14	12					0	0	0.001855	0	0
BCAS1	8537	broad.mit.edu	37	20	52612525	52612525	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:52612525C>A	ENST00000395961.3	-	5	954	c.788G>T	c.(787-789)gGg>gTg	p.G263V	BCAS1_ENST00000371440.3_Missense_Mutation_p.G263V|BCAS1_ENST00000371435.2_Missense_Mutation_p.G263V|BCAS1_ENST00000434986.2_5'UTR	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	263						cytoplasm	protein binding	p.G263V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTCTGGGTCCCCAGGGACAGA	0.473000													15	95					0.000219431	0.000249536	0.002450	1	0
TRIM21	6737	broad.mit.edu	37	11	4411246	4411246	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:4411246C>T	ENST00000254436.7	-	2	506	c.394G>A	c.(394-396)Gca>Aca	p.A132T	TRIM21_ENST00000543625.1_Missense_Mutation_p.A132T	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	132					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	p.A132T(1)		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)		TACTCCTGTGCAGCCTCCTCA	0.557000													4	28					0	0	0.000602	0	0
C5orf22	55322	broad.mit.edu	37	5	31538638	31538638	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:31538638G>A	ENST00000325366.9	+	4	776	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	217								p.E217K(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						GACTTGCCTAGAACCATCATG	0.443000													22	39					0	0	0.002299	0	0
ERMARD	55780	broad.mit.edu	37	6	170179308	170179308	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:170179308G>A	ENST00000588451.1	+	16	1875	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L	C6orf70_ENST00000392095.4_Silent_p.L464L|C6orf70_ENST00000418781.3_Silent_p.L517L|C6orf70_ENST00000366772.2_Silent_p.L543L|C6orf70_ENST00000366773.3_Silent_p.L590L			Q5T6L9	CF070_HUMAN		590						integral to membrane		p.L590L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		TGCTCAGCCTGATACTGTTAC	0.398000													7	75					0	0	0.006214	0	0
EPHB1	2047	broad.mit.edu	37	3	134898724	134898724	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:134898724C>G	ENST00000398015.3	+	10	2152	c.1782C>G	c.(1780-1782)taC>taG	p.Y594*	EPHB1_ENST00000493838.1_Nonsense_Mutation_p.Y155*	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	594						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.Y594*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGAAGATCTACATTGACCCCT	0.493000													35	166					0	0	0.003755	0	0
NDEL1	81565	broad.mit.edu	37	17	8363341	8363341	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:8363341A>T	ENST00000334527.7	+	8	1004	c.807A>T	c.(805-807)aaA>aaT	p.K269N	NDEL1_ENST00000402554.3_Missense_Mutation_p.K269N|NDEL1_ENST00000380025.4_Intron|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Missense_Mutation_p.K269N	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	269	Interaction with CENPF.|Interaction with DISC1.|Interaction with NEFL (By similarity).|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT1.				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		p.K269N(2)		large_intestine(6)|lung(4)|skin(3)	13						TAGAATCCAAATTAGCAGCTT	0.378000													28	82					0	0	0.005443	0	0
GALNT6	11226	broad.mit.edu	37	12	51753051	51753051	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:51753051G>T	ENST00000543196.2	-	7	1438	c.1233C>A	c.(1231-1233)acC>acA	p.T411T	GALNT6_ENST00000356317.3_Silent_p.T411T			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	411					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T411T(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGGGCTCTTGGTCCGGAACA	0.557000													26	189					4.87955e-14	6.98678e-14	0.005443	1	0
ABCD4	5826	broad.mit.edu	37	14	74757123	74757123	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:74757123C>T	ENST00000356924.4	-	12	1341	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	ABCD4_ENST00000557554.1_5'UTR|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Missense_Mutation_p.D296N	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	400	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D400N(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AGGGGTTTGTCAGAGGAGGGG	0.597000											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	116					0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	9076419	9076419	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:9076419G>A	ENST00000397910.4	-	3	11230	c.11027C>T	c.(11026-11028)aCt>aTt	p.T3676I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3677	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T3676I(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACGAGAAAAAGTTGAGATGGG	0.443000													24	45					0	0	0.003330	0	0
SLC3A2	6520	broad.mit.edu	37	11	62656092	62656092	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:62656092C>T	ENST00000377892.1	+	13	2137	c.1913C>T	c.(1912-1914)tCc>tTc	p.S638F	SLC3A2_ENST00000535296.1_Missense_Mutation_p.S576F|SLC3A2_ENST00000377890.2_Missense_Mutation_p.S607F|SLC3A2_ENST00000377889.2_Missense_Mutation_p.S545F|SLC3A2_ENST00000536981.1_Missense_Mutation_p.S152F|SLC3A2_ENST00000377891.2_Missense_Mutation_p.S608F|SLC3A2_ENST00000338663.7_Missense_Mutation_p.S506F			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	607					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.S638F(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GAGGAGGGCTCCCCTCTTGAG	0.672000													5	56					0	0	0.000602	0	0
MTOR	2475	broad.mit.edu	37	1	11174929	11174929	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:11174929C>T	ENST00000361445.4	-	52	7181	c.7105G>A	c.(7105-7107)Gag>Aag	p.E2369K	MTOR_ENST00000376838.1_Missense_Mutation_p.E574K	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2369	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.E2369K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGAAACTTCTCTCGGGTCATA	0.433000													4	49					0	0	0.009096	0	0
SLC4A8	9498	broad.mit.edu	37	12	51883654	51883654	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:51883654G>T	ENST00000453097.2	+	19	2836	c.2619G>T	c.(2617-2619)ctG>ctT	p.L873L	SLC4A8_ENST00000358657.3_Silent_p.L900L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	873					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.L873L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCAAGTTCCTGGGCATCCGAG	0.488000													37	107					2.51541e-25	3.7856e-25	0.004878	1	0
TJP1	7082	broad.mit.edu	37	15	30012003	30012003	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:30012003G>A	ENST00000346128.6	-	20	3455	c.2981C>T	c.(2980-2982)tCg>tTg	p.S994L	TJP1_ENST00000545208.2_Intron|TJP1_ENST00000356107.6_Missense_Mutation_p.S994L|TJP1_ENST00000400011.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	994					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.S994L(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TACATGCGACGACAATGATGG	0.443000													16	150					0	0	0.004007	0	0
SLC23A3	151295	broad.mit.edu	37	2	220032665	220032665	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:220032665C>A	ENST00000455516.2	-	7	971	c.924G>T	c.(922-924)tgG>tgT	p.W308C	SLC23A3_ENST00000409878.3_Missense_Mutation_p.W300C|SLC23A3_ENST00000396775.3_Missense_Mutation_p.A182S|SLC23A3_ENST00000295738.7_Missense_Mutation_p.G268V	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	300					transmembrane transport	integral to membrane	protein binding|transporter activity	p.G268V(1)|p.W308C(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGAGGCAGCCAAATCCATG	0.458000													6	85					5.9392e-07	7.37017e-07	0.001168	1	0
ZNF781	163115	broad.mit.edu	37	19	38160518	38160518	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:38160518C>A	ENST00000358582.4	-	4	1280	c.532G>T	c.(532-534)Gtg>Ttg	p.V178L	ZNF781_ENST00000590008.1_Missense_Mutation_p.V178L|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V178L(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TGCTTTGCCACATTCCTTACA	0.373000													15	79					8.60227e-14	1.22675e-13	0.004007	1	0
TGM6	343641	broad.mit.edu	37	20	2376003	2376003	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:2376003C>G	ENST00000202625.2	+	3	406	c.345C>G	c.(343-345)agC>agG	p.S115R	TGM6_ENST00000381423.1_Missense_Mutation_p.S115R|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	115					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.S115R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACCTGCTGAGCATCAGGCTTT	0.577000													5	74					0	0	0.001168	0	0
ZNF79	7633	broad.mit.edu	37	9	130206394	130206394	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:130206394G>T	ENST00000342483.5	+	5	821	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	ZNF79_ENST00000543471.1_Missense_Mutation_p.D115Y	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D139Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GCCCCCTGGGGATTCAGACCA	0.512000													8	100					1.12685e-05	1.34035e-05	0.004482	1	0
HAUS6	54801	broad.mit.edu	37	9	19093229	19093229	+	Missense_Mutation	SNP	G	G	A	rs151253216		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:19093229G>A	ENST00000380502.3	-	4	843	c.376C>T	c.(376-378)Cat>Tat	p.H126Y		NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	126					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.H126Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACATCAGATGAATAAACTTA	0.294000													4	27					0	0	0.009096	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529825	5529825	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:5529825C>A	ENST00000311659.4	-	2	1111	c.964G>T	c.(964-966)Ggg>Tgg	p.G322W	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	322								p.G322W(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGATCCCCATCCTGCCTT	0.507000													7	71					2.0095e-06	2.45066e-06	0.001984	1	0
HEPH	9843	broad.mit.edu	37	X	65427035	65427035	+	Splice_Site	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:65427035A>G	ENST00000519389.1	+	14	2632		c.e14-1		HEPH_ENST00000441993.2_Splice_Site|HEPH_ENST00000343002.2_Splice_Site|HEPH_ENST00000374727.3_Splice_Site|HEPH_ENST00000336279.5_Splice_Site|HEPH_ENST00000419594.1_Splice_Site			Q9BQS7	HEPH_HUMAN	hephaestin						cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.?(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGATTCCTCTAGTTATGGTTA	0.443000													19	60					0	0	0.010504	0	0
COL4A1	1282	broad.mit.edu	37	13	110823055	110823055	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:110823055G>A	ENST00000375820.4	-	42	3702	c.3581C>T	c.(3580-3582)cCa>cTa	p.P1194L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1194	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.P1194L(1)|p.P837L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCTAATCCTGGGAAACCCAC	0.567000													8	52					0	0	0.008291	0	0
PALB2	79728	broad.mit.edu	37	16	23641470	23641470	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:23641470C>T	ENST00000261584.4	-	5	2157	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	669					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.E669K(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCTAAGTCCTCCATTTCTGTA	0.438000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					45	101					0	0	0.009718	0	0
GSAP	54103	broad.mit.edu	37	7	76940745	76940745	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:76940745T>A	ENST00000257626.7	-	31	2573	c.2495A>T	c.(2494-2496)cAt>cTt	p.H832L	GSAP_ENST00000441833.2_Missense_Mutation_p.H153L	NM_017439.3	NP_059135.2			gamma-secretase activating protein									p.H832L(1)									CACATTGTCATGTCCTTCAAA	0.448000													8	69					0	0	0.003080	0	0
NPHP4	261734	broad.mit.edu	37	1	5993291	5993291	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:5993291G>A	ENST00000378156.4	-	10	1483	c.1218C>T	c.(1216-1218)acC>acT	p.T406T	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	406					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.T406T(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGAGGCAGGGTCACCCTTC	0.562000													5	45					0	0	0.000602	0	0
MMS22L	253714	broad.mit.edu	37	6	97616111	97616111	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:97616111G>A	ENST00000275053.4	-	20	3110	c.2845C>T	c.(2845-2847)Ctt>Ttt	p.L949F	MMS22L_ENST00000369251.2_Missense_Mutation_p.L909F	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	949					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	p.L949F(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATTTCACAAGAATTCCTAAC	0.358000													10	72					0	0	0.000978	0	0
TRHR	7201	broad.mit.edu	37	8	110131512	110131512	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:110131512C>A	ENST00000518632.1	+	3	1376	c.1025C>A	c.(1024-1026)aCa>aAa	p.T342K	TRHR_ENST00000311762.2_Missense_Mutation_p.T342K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	342						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.T342K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CAGAAGCCAACAGAGAAACCT	0.458000													18	122					2.37509e-13	3.38251e-13	0.010504	1	0
ZSCAN5A	79149	broad.mit.edu	37	19	56735007	56735007	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:56735007C>A	ENST00000587340.1	-	5	1276	c.581G>T	c.(580-582)aGg>aTg	p.R194M	ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R48M|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R194M|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R77M|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R194M			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	194					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R194M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACCTGCCTCCTGGACAATGC	0.612000													10	48					2.17888e-05	2.55164e-05	0.006214	1	0
PGK1	5230	broad.mit.edu	37	X	77381315	77381315	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:77381315C>T	ENST00000373316.4	+	11	1409	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	PGK1_ENST00000537456.1_Silent_p.L386L|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000442431.1_Silent_p.L278L	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	414					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.L414L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TGGATGCTCTCAGCAATATTT	0.448000													55	388					0	0	0.003610	0	0
CCNB3	85417	broad.mit.edu	37	X	50052996	50052996	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:50052996G>C	ENST00000376042.1	+	6	2125	c.1827G>C	c.(1825-1827)aaG>aaC	p.K609N	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.K609N			Q8WWL7	CCNB3_HUMAN	cyclin B3	609					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.K609N(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCTTGCAGAAGATCACTTCTG	0.428000													7	20					0	0	0.003080	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424083	89424083	+	RNA	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:89424083C>T	ENST00000532352.1	+	0	1546							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.H245Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCCACTGTATCACAGTGTCTA	0.358000													10	89					0	0	0.001368	0	0
DET1	55070	broad.mit.edu	37	15	89056312	89056312	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:89056312C>A	ENST00000564406.1	-	6	1716	c.1556G>T	c.(1555-1557)cGc>cTc	p.R519L	DET1_ENST00000444300.1_Missense_Mutation_p.R519L|DET1_ENST00000268148.8_Missense_Mutation_p.R508L	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	508						nucleus		p.R519L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTTGATGGGGCGGCCCAATAA	0.527000													4	27					0.000602214	0.000666962	0.000602	1	0
DNAH10	196385	broad.mit.edu	37	12	124359947	124359947	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:124359947T>G	ENST00000409039.3	+	46	7779	c.7754T>G	c.(7753-7755)tTt>tGt	p.F2585C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2585	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F1177C(1)|p.F2585C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACCCAAGATTTATTTCGCTA	0.463000													3	66					0	0	0.004672	0	0
NBPF14	25832	broad.mit.edu	37	1	148004683	148004683	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:148004683C>G	ENST00000369219.1	-	22	2647	c.2631G>C	c.(2629-2631)caG>caC	p.Q877H				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	877	NBPF 10.					cytoplasm		p.Q877H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TTCTGTAGTGCTGGAATGAGT	0.443000													14	260					0	0	0.002445	0	0
CREM	1390	broad.mit.edu	37	10	35495959	35495959	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:35495959G>T	ENST00000333809.8	+	7	936	c.882G>T	c.(880-882)gaG>gaT	p.E294D	CREM_ENST00000374721.3_Missense_Mutation_p.E215D|CREM_ENST00000490511.1_Missense_Mutation_p.E58D|CREM_ENST00000439705.1_Missense_Mutation_p.E231D|CREM_ENST00000487763.1_Missense_Mutation_p.E66D|CREM_ENST00000488741.1_Missense_Mutation_p.E48D|CREM_ENST00000479070.1_Missense_Mutation_p.E257D|CREM_ENST00000474931.1_Missense_Mutation_p.E58D|CREM_ENST00000488328.1_Missense_Mutation_p.E54D|CREM_ENST00000474362.1_Missense_Mutation_p.E41D|CREM_ENST00000484283.1_Missense_Mutation_p.E164D|CREM_ENST00000345491.3_Missense_Mutation_p.E245D|CREM_ENST00000395895.2_Missense_Mutation_p.E306D|CREM_ENST00000337656.4_Missense_Mutation_p.E245D|CREM_ENST00000460270.1_Missense_Mutation_p.E41D|CREM_ENST00000395887.3_Missense_Mutation_p.E227D|CREM_ENST00000361599.4_Missense_Mutation_p.E215D|CREM_ENST00000356917.5_Missense_Mutation_p.E54D|CREM_ENST00000463314.1_Missense_Mutation_p.E83D|CREM_ENST00000348787.2_Missense_Mutation_p.E166D|CREM_ENST00000344351.5_Missense_Mutation_p.E41D|CREM_ENST00000463960.1_Missense_Mutation_p.E139D|CREM_ENST00000354759.3_Missense_Mutation_p.E194D|CREM_ENST00000429130.3_Missense_Mutation_p.E290D|CREM_ENST00000473940.1_Missense_Mutation_p.E66D|CREM_ENST00000342105.3_Missense_Mutation_p.E190D|CREM_ENST00000468236.1_Missense_Mutation_p.E70D|CREM_ENST00000374728.3_Missense_Mutation_p.E166D|CREM_ENST00000374734.3_Missense_Mutation_p.E182D	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	306					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E245D(1)|p.E58D(1)|p.E227D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						GCAAACGAGAGCTGAGGCTAA	0.522000													16	77					6.94344e-10	9.31352e-10	0.006122	1	0
HIP1	3092	broad.mit.edu	37	7	75187482	75187482	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:75187482G>A	ENST00000336926.6	-	15	1479	c.1453C>T	c.(1453-1455)Ctg>Ttg	p.L485L	HIP1_ENST00000434438.2_Silent_p.L485L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	485	pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.L485L(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCCGCAGCAGGTCAGCGTGG	0.577000			T	PDGFRB	CMML								15	62					0	0	0.004007	0	0
LAMB4	22798	broad.mit.edu	37	7	107696354	107696354	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:107696354G>T	ENST00000388781.3	-	25	3561	c.3478C>A	c.(3478-3480)Cgc>Agc	p.R1160S	LAMB4_ENST00000205386.4_Missense_Mutation_p.R1160S|LAMB4_ENST00000388780.3_Missense_Mutation_p.R1160S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1160	Laminin EGF-like 13.				cell adhesion	basement membrane		p.R1160S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CGGGCACAGCGATCACATCTC	0.557000													10	70					4.68919e-08	6.00148e-08	0.008291	1	0
GTF2H4	2968	broad.mit.edu	37	6	30876868	30876868	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:30876868C>T	ENST00000259895.4	+	2	278	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	GTF2H4_ENST00000539324.1_Intron|GTF2H4_ENST00000376316.2_Silent_p.L19L	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	19					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	p.L19L(2)		breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATGCAGGAATCTGCAGGAATT	0.547000								Nucleotide excision repair (NER)					10	58					0	0	0.006214	0	0
AADACL3	126767	broad.mit.edu	37	1	12785651	12785651	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:12785651T>A	ENST00000332530.3	+	3	757	c.531T>A	c.(529-531)caT>caA	p.H177Q	AADACL3_ENST00000359318.5_Missense_Mutation_p.H247Q	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	247							hydrolase activity	p.H247Q(1)|p.H177Q(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGCCCCATGAGCCCATGA	0.507000													41	84					0	0	0.008740	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209206	71209206	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:71209206T>A	ENST00000554752.2	-	6	1428	c.1429A>T	c.(1429-1431)Att>Ttt	p.I477F	MAP3K9_ENST00000554146.1_Missense_Mutation_p.I214F|MAP3K9_ENST00000555993.2_Missense_Mutation_p.I477F|MAP3K9_ENST00000553414.1_Missense_Mutation_p.I171F|MAP3K9_ENST00000381250.4_Missense_Mutation_p.I477F			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	477	Leucine-zipper 2.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.I477F(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGGATGTCAATCTCCCGCTCG	0.622000													12	38					0	0	0.000978	0	0
U2SURP	23350	broad.mit.edu	37	3	142731083	142731083	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:142731083C>T	ENST00000473835.2	+	3	200	c.110C>T	c.(109-111)tCa>tTa	p.S37L	U2SURP_ENST00000493598.2_Missense_Mutation_p.S37L|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	37					RNA processing	nucleus	nucleotide binding|RNA binding	p.S37L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TCTGGACCCTCAGATAGTGAT	0.393000													5	57					0	0	0.001168	0	0
TBX22	50945	broad.mit.edu	37	X	79286266	79286266	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:79286266A>T	ENST00000442340.1	+	9	1349	c.859A>T	c.(859-861)Atg>Ttg	p.M287L	TBX22_ENST00000373296.3_Missense_Mutation_p.M407L|TBX22_ENST00000373291.1_Missense_Mutation_p.M287L|TBX22_ENST00000373294.5_Missense_Mutation_p.M407L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	407					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.M407L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGCCCCACTCATGATGGAAGT	0.443000													65	189					0	0	0.003610	0	0
LOC101929735	101929735	broad.mit.edu	37	14	22946655	22946655	+	RNA	SNP	A	A	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:22946655A>C	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA																							GGGTTCGTTAAGCTGATGCCA	0.448000													3	9					0	0	0.009096	0	0
OR10G2	26534	broad.mit.edu	37	14	22102185	22102185	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:22102185G>T	ENST00000542433.1	-	1	911	c.814C>A	c.(814-816)Ccc>Acc	p.P272T		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P272N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCATCCAGGGGGTCTTTGGAG	0.542000													16	84					6.31663e-08	8.06491e-08	0.003163	1	0
KIAA0195	9772	broad.mit.edu	37	17	73487509	73487509	+	Silent	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:73487509A>T	ENST00000314256.7	+	13	1753	c.1359A>T	c.(1357-1359)ctA>ctT	p.L453L	KIAA0195_ENST00000579208.1_Silent_p.L104L|KIAA0195_ENST00000375248.5_Silent_p.L463L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	453					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	p.L453L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGATGGCCTATCCACCCGCT	0.632000													15	70					0	0	0.004990	0	0
OR4C15	81309	broad.mit.edu	37	11	55322489	55322489	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:55322489C>A	ENST00000314644.2	+	1	707	c.707C>A	c.(706-708)cCg>cAg	p.P236Q		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P236Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GACTTGTACCCGTTACTGGAG	0.448000										HNSCC(20;0.049)			10	43					0.000442599	0.000493275	0.006214	1	0
MFRP	83552	broad.mit.edu	37	11	119217211	119217211	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:119217211A>G	ENST00000555262.1	-	1	172	c.13T>C	c.(13-15)Tca>Cca	p.S5P	MFRP_ENST00000529147.1_5'UTR|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.S5P|MFRP_ENST00000449574.2_Missense_Mutation_p.S5P|MFRP_ENST00000530681.1_Missense_Mutation_p.S5P	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein									p.S5P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		ATGACATCTGAGAAGTCCTTC	0.562000													24	53					0	0	0.002299	0	0
OR10A7	121364	broad.mit.edu	37	12	55615073	55615073	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:55615073A>T	ENST00000326258.1	+	1	265	c.265A>T	c.(265-267)Agg>Tgg	p.R89W		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89W(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AGTGTCCCCAAGGAAAATTAT	0.403000													47	148					0	0	0.003610	0	0
RASAL2	9462	broad.mit.edu	37	1	178269130	178269130	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:178269130C>T	ENST00000448150.3	+	3	1098	c.280C>T	c.(280-282)Cct>Tct	p.P94S	RASAL2_ENST00000367649.3_Missense_Mutation_p.P112S|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.P112S(1)|p.P94S(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TAACTAGATACCTGTGGAAGG	0.453000											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	71					0	0	0.001168	0	0
OR2H2	7932	broad.mit.edu	37	6	29555766	29555766	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:29555766C>T	ENST00000383640.2	+	1	84	c.45C>T	c.(43-45)ttC>ttT	p.F15F	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	15					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F15F(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TTCTGGGCTTCTCTGAACACC	0.542000													24	181					0	0	0.004656	0	0
CACNA1E	777	broad.mit.edu	37	1	181727923	181727923	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:181727923G>A	ENST00000526775.1	+	31	4632	c.4467G>A	c.(4465-4467)ctG>ctA	p.L1489L	CACNA1E_ENST00000367567.4_Silent_p.L1115L|CACNA1E_ENST00000367573.2_Silent_p.L1508L|CACNA1E_ENST00000357570.5_Silent_p.L1459L|CACNA1E_ENST00000367570.1_Silent_p.L1508L|CACNA1E_ENST00000360108.3_Silent_p.L1489L|CACNA1E_ENST00000358338.5_Silent_p.L1440L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1508					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L1508L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTATGAGCTGGCCCTGAAGT	0.453000													23	98					0	0	0.003954	0	0
OR4C6	219432	broad.mit.edu	37	11	55433513	55433513	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:55433513G>A	ENST00000314259.3	+	1	900	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E291K(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GAGGAATGCAGAGGTGAAAAG	0.458000													6	40					0	0	0.001168	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576822	33576822	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:33576822C>T	ENST00000504830.1	-	19	3644	c.3309G>A	c.(3307-3309)gaG>gaA	p.E1103E	ADAMTS12_ENST00000352040.3_Silent_p.E1018E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1103	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E1103E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAACATTTTCCTCACTTGGCT	0.512000										HNSCC(64;0.19)			39	76					0	0	0.005524	0	0
WDR96	80217	broad.mit.edu	37	10	105939596	105939596	+	Splice_Site	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:105939596A>T	ENST00000357060.3	-	18	2498		c.e18+1		WDR96_ENST00000278064.2_Splice_Site|WDR96_ENST00000428666.1_Splice_Site	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96									p.?(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTCACAAATACCTCTTGGCT	0.368000													14	109					0	0	0.001855	0	0
ATP13A4	84239	broad.mit.edu	37	3	193156355	193156355	+	Missense_Mutation	SNP	C	C	T	rs143538005		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:193156355C>T	ENST00000342695.4	-	23	2903	c.2581G>A	c.(2581-2583)Gtg>Atg	p.V861M	ATP13A4_ENST00000392443.3_Missense_Mutation_p.V842M	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	861					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.V861M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GAGATGCCCACATGAGCCATT	0.453000													9	50					0	0	0.006214	0	0
REG3G	130120	broad.mit.edu	37	2	79253844	79253844	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:79253844G>T	ENST00000272324.5	+	3	266	c.82G>T	c.(82-84)Gaa>Taa	p.E28*	REG3G_ENST00000393897.2_Nonsense_Mutation_p.E28*|REG3G_ENST00000409471.1_Nonsense_Mutation_p.E28*	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	28					acute-phase response	extracellular region	sugar binding	p.E28*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAGGTGAAGAAACCCAGAA	0.537000													8	38					1.06961e-07	1.35587e-07	0.003080	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84608488	84608488	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:84608488G>A	ENST00000344803.2	+	4	3150	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.E1035K(2)									TTTTCAAAGCGAAAAATTAGA	0.433000													42	229					0	0	0.008740	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879413	3879413	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr18:3879413G>C	ENST00000315677.3	-	4	1251	c.656C>G	c.(655-657)tCg>tGg	p.S219W	DLGAP1_ENST00000581527.1_Missense_Mutation_p.S219W|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S219W|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.S219W	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	219					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.S219W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CATCACGCCCGAGGGGGCGTG	0.692000													17	93					0	0	0.006122	0	0
SRPK3	26576	broad.mit.edu	37	X	153049512	153049512	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:153049512C>T	ENST00000489426.1	+	16	3558	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	SRPK3_ENST00000370108.3_Intron|SRPK3_ENST00000393786.3_Intron|SRPK3_ENST00000370101.3_Missense_Mutation_p.P331S|SRPK3_ENST00000370100.1_Intron|SRPK3_ENST00000370104.1_Missense_Mutation_p.P330S			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	331	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	p.P398S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCCCTCCCCAGCCTCTTC	0.701000													13	29					0	0	0.001855	0	0
FGD6	55785	broad.mit.edu	37	12	95602831	95602831	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:95602831G>A	ENST00000343958.4	-	2	2452	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L	FGD6_ENST00000549499.1_Silent_p.L743L|FGD6_ENST00000546711.1_Silent_p.L743L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	743					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.L743L(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCGGTGCACAGAGGCTTGTAA	0.448000													6	66					0	0	0.001168	0	0
NBL1	4681	broad.mit.edu	37	1	19981647	19981647	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:19981647C>G	ENST00000375136.3	+	2	427	c.124C>G	c.(124-126)Cag>Gag	p.Q42E	MINOS1-NBL1_ENST00000602662.1_Missense_Mutation_p.Q42E|NBL1_ENST00000289749.2_Missense_Mutation_p.Q77E|NBL1_ENST00000548815.1_Missense_Mutation_p.Q41E	NM_001204085.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	41	CTCK.					extracellular region		p.Q41E(1)		lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAACATCACCCAGATCGTGGG	0.627000													3	12					0	0	0.004672	0	0
SGOL2	151246	broad.mit.edu	37	2	201400787	201400787	+	Splice_Site	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:201400787G>C	ENST00000357799.4	+	4	407		c.e4-1		SGOL2_ENST00000469840.1_Splice_Site|SGOL2_ENST00000409203.3_Splice_Site	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)						cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.?(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TACATGTGCAGAATAAGAAGC	0.294000													23	111					0	0	0.002299	0	0
WDR1	9948	broad.mit.edu	37	4	10079394	10079394	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:10079394C>T	ENST00000382452.2	-	13	1834	c.1552G>A	c.(1552-1554)Gtt>Att	p.V518I	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Missense_Mutation_p.V378I|WDR1_ENST00000499869.2_Missense_Mutation_p.V518I|WDR1_ENST00000382451.2_Missense_Mutation_p.V378I	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	518					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	p.V519I(1)|p.V518I(1)		endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCGTCAGCAACGCTGAACACT	0.662000													3	7					0	0	0.009096	0	0
TDRD9	122402	broad.mit.edu	37	14	104470657	104470657	+	Silent	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:104470657T>G	ENST00000409874.4	+	14	1614	c.1566T>G	c.(1564-1566)gtT>gtG	p.V522V	TDRD9_ENST00000339063.5_Silent_p.V522V	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	522	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.V522V(1)|p.V237V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTGATCATGTTGTTCCTGAGA	0.398000													5	31					0	0	0.000602	0	0
BCORL1	63035	broad.mit.edu	37	X	129150034	129150034	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:129150034G>T	ENST00000540052.1	+	3	3330	c.3286G>T	c.(3286-3288)Gta>Tta	p.V1096L	BCORL1_ENST00000218147.7_Missense_Mutation_p.V1096L|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1096L|BCORL1_ENST00000303743.5_Missense_Mutation_p.V1096L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1096					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.V1096L(1)|p.V1096I(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACAGGAAAGCGTAGGGGTCTT	0.582000													29	60					2.81731e-10	3.82736e-10	0.002096	1	0
EPN1	29924	broad.mit.edu	37	19	56206162	56206162	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:56206162G>T	ENST00000411543.2	+	10	2140	c.1593G>T	c.(1591-1593)agG>agT	p.R531S	EPN1_ENST00000270460.6_Missense_Mutation_p.R445S|EPN1_ENST00000085079.7_Missense_Mutation_p.R419S	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	445	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	p.R531S(1)|p.R445S(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GTGGGGTCAGGGGATCTCTGG	0.677000													4	22					0.00024832	0.000279097	0.009096	1	0
GTF2A2	2958	broad.mit.edu	37	15	59944431	59944431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:59944431G>A	ENST00000396060.2	-	2	227	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	GTF2A2_ENST00000396064.3_Nonsense_Mutation_p.Q16*|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000396063.1_Nonsense_Mutation_p.Q16*|GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000484743.1_Nonsense_Mutation_p.Q16*|GTF2A2_ENST00000396061.1_Nonsense_Mutation_p.Q16*	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	16					interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity	p.Q16*(1)		central_nervous_system(2)|kidney(2)|lung(1)	5						AGGCTCTCCTGAAGACTGTTT	0.358000													9	82					0	0	0.006214	0	0
ARHGAP1	392	broad.mit.edu	37	11	46703732	46703732	+	Splice_Site	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:46703732C>T	ENST00000311956.4	-	5	415	c.317_splice	c.e5-1	p.G106_splice		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	106	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	p.G106G(1)		endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GCTTCAGGTACCTTCCAGGGA	0.617000													5	78					0	0	0.001984	0	0
ZEB1	6935	broad.mit.edu	37	10	31810747	31810747	+	Silent	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:31810747G>C	ENST00000446923.2	+	7	2827	c.2436G>C	c.(2434-2436)gcG>gcC	p.A812A	ZEB1_ENST00000542815.3_Silent_p.A761A|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Silent_p.A828A|ZEB1_ENST00000560721.2_Silent_p.A808A|ZEB1_ENST00000361642.5_Silent_p.A829A	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	828					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	p.A828A(1)		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)				GCTTAAGAGCGCTAGCTGCCA	0.502000													17	47					0	0	0.006122	0	0
VPS13D	55187	broad.mit.edu	37	1	12342995	12342995	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:12342995C>T	ENST00000358136.3	+	21	4966	c.4836C>T	c.(4834-4836)gtC>gtT	p.V1612V	VPS13D_ENST00000356315.4_Silent_p.V1612V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1612					protein localization			p.V1612V(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAAGGAAGTCAAATCCTTTA	0.448000													22	130					0	0	0.001882	0	0
COL9A1	1297	broad.mit.edu	37	6	71009823	71009823	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:71009823G>T	ENST00000357250.6	-	4	380	c.222C>A	c.(220-222)atC>atA	p.I74I	COL9A1_ENST00000370496.3_Silent_p.I74I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	74	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.I74I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTACTCTCTGGATAGCTCTTC	0.368000													9	59					2.17888e-05	2.55164e-05	0.006214	1	0
ZMIZ1	57178	broad.mit.edu	37	10	81052058	81052058	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:81052058C>T	ENST00000334512.5	+	11	1474	c.902C>T	c.(901-903)gCc>gTc	p.A301V	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	301	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	p.A301V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACAGCCACGGCCACTGTGGCA	0.637000													12	59					0	0	0.001855	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51252604	51252604	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:51252604T>C	ENST00000551456.1	+	3	465	c.420T>C	c.(418-420)aaT>aaC	p.N140N	TMPRSS12_ENST00000398458.3_Silent_p.N140N			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	140	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.N140N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TTGGAACTAATAATATACATG	0.279000													6	22					0	0	0.004482	0	0
SPICE1	152185	broad.mit.edu	37	3	113172643	113172643	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:113172643C>A	ENST00000295872.4	-	14	2071	c.1812G>T	c.(1810-1812)tgG>tgT	p.W604C		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	604					cell division|mitosis	centriole|spindle	protein binding	p.W604C(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GAGAGACTCTCCATCTCTGAG	0.413000													21	83					7.87624e-14	1.12624e-13	0.002780	1	0
EMILIN1	11117	broad.mit.edu	37	2	27302068	27302068	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:27302068G>T	ENST00000380320.4	+	1	634	c.135G>T	c.(133-135)caG>caT	p.Q45H		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	45					cell adhesion	collagen		p.Q45_A46>HS(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGGCCCCAGGCCCAGATTG	0.692000													8	21					0.000157383	0.000179746	0.003080	1	0
HELQ	113510	broad.mit.edu	37	4	84374582	84374582	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:84374582C>G	ENST00000295488.3	-	2	976	c.814G>C	c.(814-816)Gcc>Ccc	p.A272P	HELQ_ENST00000510985.1_Missense_Mutation_p.A272P	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	272							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.A272P(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CCAGTCATGGCATTTTTTAGA	0.378000								Other identified genes with known or suspected DNA repair function					29	108					0	0	0.007291	0	0
PCLO	27445	broad.mit.edu	37	7	82784423	82784423	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:82784423G>A	ENST00000423517.2	-	2	1871	c.1534C>T	c.(1534-1536)Caa>Taa	p.Q512*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q512*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	458	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.Q512*(2)|p.Q458*(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCAGGCTGTTGAGGTGGGGGT	0.602000													39	290					0	0	0.007835	0	0
EPHA5	2044	broad.mit.edu	37	4	66217268	66217268	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:66217268C>G	ENST00000273854.3	-	14	2947	c.2347G>C	c.(2347-2349)Ggt>Cgt	p.G783R	EPHA5_ENST00000511294.1_Missense_Mutation_p.G784R|EPHA5_ENST00000432638.2_Missense_Mutation_p.G620R|EPHA5_ENST00000354839.4_Missense_Mutation_p.G761R	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	783	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.G783R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCAGAGATACCTCTCAGCATG	0.423000										TSP Lung(17;0.13)			12	48					0	0	0.000978	0	0
ABCB4	5244	broad.mit.edu	37	7	87046795	87046795	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:87046795T>A	ENST00000265723.4	-	21	2626	c.2515A>T	c.(2515-2517)Ata>Tta	p.I839L	ABCB4_ENST00000358400.3_Missense_Mutation_p.I839L|ABCB4_ENST00000545634.1_Missense_Mutation_p.I839L|ABCB4_ENST00000359206.3_Missense_Mutation_p.I839L|ABCB4_ENST00000453593.1_Missense_Mutation_p.I839L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	839	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.I839L(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AGGTTAGCTATATTCTGTGCA	0.413000													8	51					0	0	0.003080	0	0
SYCP2L	221711	broad.mit.edu	37	6	10911082	10911082	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:10911082G>T	ENST00000283141.6	+	12	1194	c.898G>T	c.(898-900)Gct>Tct	p.A300S	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.A141S	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	300						nucleus		p.A300S(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GTGTATTGCTGCTTTTGCTGA	0.413000													11	176					6.42651e-13	9.05515e-13	0.000978	1	0
EML1	2009	broad.mit.edu	37	14	100402669	100402669	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:100402669A>G	ENST00000262233.6	+	19	2232	c.2093A>G	c.(2092-2094)tAc>tGc	p.Y698C	EML1_ENST00000334192.4_Missense_Mutation_p.Y717C|EML1_ENST00000327921.9_Missense_Mutation_p.Y686C	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	698						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.Y717C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GAAATCCTCTACTGTGAGTAC	0.507000													7	32					0	0	0.001984	0	0
EZH2	2146	broad.mit.edu	37	7	148543617	148543617	+	Translation_Start_Site	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:148543617C>A	ENST00000536783.1	-	0	355				EZH2_ENST00000483967.1_Missense_Mutation_p.R64M|EZH2_ENST00000460911.1_Missense_Mutation_p.R64M|EZH2_ENST00000541220.1_Missense_Mutation_p.R64M|EZH2_ENST00000478654.1_Missense_Mutation_p.R64M|EZH2_ENST00000476773.1_Missense_Mutation_p.R64M|EZH2_ENST00000320356.2_Missense_Mutation_p.R64M|EZH2_ENST00000350995.2_Missense_Mutation_p.R64M			Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)						negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R64M(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGGCTGTATCCTTCGCTGTTT	0.383000			Mis		DLBCL								8	31					0.000157383	0.000179746	0.003080	1	0
COL21A1	81578	broad.mit.edu	37	6	56033064	56033064	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:56033064C>T	ENST00000244728.5	-	6	1455	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	COL21A1_ENST00000370819.1_Missense_Mutation_p.R353H|COL21A1_ENST00000535941.1_Missense_Mutation_p.R353H	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	353	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R353H(3)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACTAAGAGACGAATTTGGTG	0.348000													3	6					0	0	0.004672	0	0
GJA1	2697	broad.mit.edu	37	6	121768044	121768044	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:121768044C>T	ENST00000282561.3	+	2	208	c.51C>T	c.(49-51)taC>taT	p.Y17Y		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	17			Y -> S (in ODDD).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.Y17Y(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TTCAAGCCTACTCAACTGCTG	0.522000													16	138					0	0	0.004990	0	0
CLN8	2055	broad.mit.edu	37	8	1728673	1728673	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:1728673G>T	ENST00000331222.4	+	3	1048	c.801G>T	c.(799-801)caG>caT	p.Q267H	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	267					cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		p.Q267H(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		ACTTCGCACAGCCAGAAGCCA	0.582000													15	87					3.52763e-06	4.24837e-06	0.004990	1	0
CDON	50937	broad.mit.edu	37	11	125848198	125848198	+	Splice_Site	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:125848198C>A	ENST00000392693.3	-	18	3484		c.e18+1		CDON_ENST00000531738.1_Splice_Site|CDON_ENST00000263577.7_Splice_Site	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated						cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TATTAACATACCTATTGTTGT	0.428000													8	12					0.00448238	0.00485286	0.004482	1	0
NXPE2	120406	broad.mit.edu	37	11	114569307	114569307	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:114569307T>A	ENST00000375475.5	+	3	771	c.673T>A	c.(673-675)Tcc>Acc	p.S225T	NXPE2_ENST00000389586.4_Missense_Mutation_p.S225T					neurexophilin and PC-esterase domain family, member 2									p.S225T(2)									CAACAGAAGCTCCAATGTCTT	0.512000													6	59					0	0	0.001168	0	0
OR4D6	219983	broad.mit.edu	37	11	59224981	59224981	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:59224981A>T	ENST00000300127.2	+	1	571	c.548A>T	c.(547-549)cAg>cTg	p.Q183L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q183L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TATGTGCTCCAGGTGGTAAAA	0.512000													19	120					0	0	0.008871	0	0
PCLO	27445	broad.mit.edu	37	7	82583852	82583852	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:82583852T>C	ENST00000423517.2	-	5	6754	c.6417A>G	c.(6415-6417)gaA>gaG	p.E2139E	PCLO_ENST00000333891.8_Silent_p.E2139E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2070					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E2139E(2)|p.E2070E(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTCAATTTCTTCTGTTGAAA	0.398000													11	65					0	0	0.001368	0	0
SLC6A5	9152	broad.mit.edu	37	11	20657894	20657894	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:20657894A>T	ENST00000525748.1	+	11	1939	c.1666A>T	c.(1666-1668)Agg>Tgg	p.R556W	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	556					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.R556W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGCCTTAACCAGGCTGCCTCT	0.527000													6	36					0	0	0.006214	0	0
HELB	92797	broad.mit.edu	37	12	66704131	66704131	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:66704131G>T	ENST00000247815.4	+	4	1482	c.1423G>T	c.(1423-1425)Ggg>Tgg	p.G475W		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	475					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.G475W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGTCATAAGTGGGAAAGGTGG	0.438000													13	43					1.61879e-10	2.21047e-10	0.001368	1	0
INSRR	3645	broad.mit.edu	37	1	156823990	156823990	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:156823990G>T	ENST00000368195.3	-	2	587	c.191C>A	c.(190-192)aCc>aAc	p.T64N	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	64					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.T64N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTCCTCCCCGGTGGCTGTGAA	0.637000													12	32					4.93089e-13	6.97557e-13	0.002450	1	0
METTL17	64745	broad.mit.edu	37	14	21463338	21463338	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:21463338T>G	ENST00000339374.6	+	10	1124	c.891T>G	c.(889-891)aaT>aaG	p.N297K	METTL17_ENST00000556670.2_Missense_Mutation_p.N297K|METTL17_ENST00000382985.4_Missense_Mutation_p.N297K	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	297					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	p.N297K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TGGTGGAGAATGGAACAAAAG	0.458000													45	189					0	0	0.003610	0	0
USP26	83844	broad.mit.edu	37	X	132162273	132162273	+	Translation_Start_Site	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:132162273G>A	ENST00000511190.1	-	0	445				USP26_ENST00000370832.1_De_novo_Start_OutOfFrame|USP26_ENST00000406273.1_De_novo_Start_OutOfFrame	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26						protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TAAAATATACGTATCTCCGAT	0.358000													8	70					0	0	0.004482	0	0
DAGLA	747	broad.mit.edu	37	11	61490344	61490344	+	Silent	SNP	C	C	T	rs150315991		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:61490344C>T	ENST00000257215.5	+	4	437	c.321C>T	c.(319-321)atC>atT	p.I107I		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	107					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.I107I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCCTGGTGATCGAGTTCATCT	0.592000													5	70					0	0	0.000602	0	0
USH2A	7399	broad.mit.edu	37	1	216172295	216172295	+	Silent	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:216172295T>A	ENST00000366943.2	-	34	6977	c.6591A>T	c.(6589-6591)acA>acT	p.T2197T	USH2A_ENST00000307340.3_Silent_p.T2197T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2197	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T2197T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAAAAGTTCTGTACTGTTAT	0.343000										HNSCC(13;0.011)			10	65					0	0	0.008291	0	0
CALN1	83698	broad.mit.edu	37	7	71571253	71571253	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:71571253C>A	ENST00000395275.2	-	4	659	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	CALN1_ENST00000431984.1_Missense_Mutation_p.D49Y|CALN1_ENST00000329008.5_Missense_Mutation_p.D49Y|CALN1_ENST00000405452.2_Missense_Mutation_p.D49Y|CALN1_ENST00000395276.2_Missense_Mutation_p.D49Y|CALN1_ENST00000412588.1_Missense_Mutation_p.D91Y	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	49	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.L48>?(1)|p.D49Y(1)|p.D91Y(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCATCCCGGTCCAGAACCCGA	0.537000													6	58					1.06961e-07	1.35587e-07	0.003080	1	0
PASD1	139135	broad.mit.edu	37	X	150832647	150832647	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:150832647G>T	ENST00000370357.4	+	11	1143	c.898G>T	c.(898-900)Gac>Tac	p.D300Y		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	300						nucleus	signal transducer activity	p.D300Y(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTACAGGGCAGACCCAGTGGA	0.542000													28	59					1.06801e-11	1.48126e-11	0.009535	1	0
MSGN1	343930	broad.mit.edu	37	2	17997990	17997990	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:17997990T>A	ENST00000281047.3	+	1	228	c.205T>A	c.(205-207)Tgt>Agt	p.C69S		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	69					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.C69S(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGGCTGCCCTGTGAGCACGG	0.617000													15	65					0	0	0.008871	0	0
NKAIN2	154215	broad.mit.edu	37	6	124125384	124125384	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:124125384C>G	ENST00000368417.1	+	1	99	c.39C>G	c.(37-39)atC>atG	p.I13M	NKAIN2_ENST00000546092.1_Missense_Mutation_p.I13M|NKAIN2_ENST00000368416.1_Missense_Mutation_p.I13M|NKAIN2_ENST00000476571.1_3'UTR	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	13						integral to membrane|plasma membrane		p.I13M(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TTATCTTTATCTGTGGCATGC	0.547000													15	92					0	0	0.002450	0	0
MRPS31	10240	broad.mit.edu	37	13	41345258	41345258	+	Silent	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:41345258G>C	ENST00000323563.6	-	1	51	c.15C>G	c.(13-15)gtC>gtG	p.V5V		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	5						mitochondrion|ribosome	protein domain specific binding	p.V5V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGAACGTCGAGACTCTAGGAA	0.582000													8	41					0	0	0.008291	0	0
MEIS2	4212	broad.mit.edu	37	15	37184518	37184518	+	Silent	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:37184518T>A	ENST00000338564.5	-	13	1715	c.1269A>T	c.(1267-1269)ccA>ccT	p.P423P	MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000382766.2_Silent_p.P423P|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000561208.1_Silent_p.P430P|MEIS2_ENST00000444725.1_3'UTR	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	430					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P430P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGGATGGCTTGGCAAATATG	0.517000													40	311					0	0	0.008740	0	0
SYCP1	6847	broad.mit.edu	37	1	115418717	115418717	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:115418717C>A	ENST00000369522.3	+	10	925	c.685C>A	c.(685-687)Cgt>Agt	p.R229S	SYCP1_ENST00000369518.1_Missense_Mutation_p.R229S	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	229					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.R229S(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAGGAACTTCGTGTGCAAGC	0.259000													7	47					0.00448238	0.00485286	0.004482	1	0
OR1F2P	26184	broad.mit.edu	37	16	3265782	3265782	+	RNA	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:3265782C>G	ENST00000576468.1	+	0	418																											CCTGCACACCCCCATGTACTT	0.532000													14	58					0	0	0.007413	0	0
OR2T4	127074	broad.mit.edu	37	1	248525429	248525429	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:248525429C>T	ENST00000366475.1	+	1	547	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L183L(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCTGGTTCCTGGGCTCAGT	0.542000													79	176					0	0	0.003610	0	0
BICC1	80114	broad.mit.edu	37	10	60549635	60549635	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:60549635C>T	ENST00000373886.3	+	8	993	c.989C>T	c.(988-990)tCt>tTt	p.S330F		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	330	KH 2.				multicellular organismal development		RNA binding	p.S330F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CAAAAGAAATCTACCGTCTAC	0.413000													13	107					0	0	0.001855	0	0
ROS1	6098	broad.mit.edu	37	6	117681505	117681505	+	Splice_Site	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:117681505C>T	ENST00000368508.3	-	22	3643	c.3445_splice	c.e22+1	p.E1149_splice	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site_p.E1144_splice	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1149					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E1149K(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAACAAATACCTGATGTTGTA	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	45					0	0	0.009096	0	0
MKI67	4288	broad.mit.edu	37	10	129903225	129903225	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:129903225T>C	ENST00000368654.3	-	13	7254	c.6879A>G	c.(6877-6879)ccA>ccG	p.P2293P	MKI67_ENST00000368653.3_Silent_p.P1933P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2293	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.P2293P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTAAATTTCCTGGCAGGTCCA	0.493000													35	289					0	0	0.004878	0	0
OR5R1	219479	broad.mit.edu	37	11	56185520	56185520	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:56185520G>A	ENST00000312253.1	-	1	188	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CCAGGTGGCTGAGGAAATAGT	0.418000													4	30					0	0	0.009096	0	0
FAM3C	10447	broad.mit.edu	37	7	121011399	121011399	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:121011399C>T	ENST00000359943.3	-	5	440	c.227G>A	c.(226-228)gGa>gAa	p.G76E		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	76					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	p.G76E(1)|p.G76A(1)		kidney(1)|lung(8)	9	all_neural(327;0.117)					GTTGGCTGCTCCACTTGCCAT	0.438000													9	99					0	0	0.004482	0	0
AGBL2	79841	broad.mit.edu	37	11	47712125	47712125	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:47712125C>A	ENST00000525123.1	-	10	1419	c.1134G>T	c.(1132-1134)acG>acT	p.T378T	AGBL2_ENST00000528244.1_Silent_p.T340T|AGBL2_ENST00000357610.3_Silent_p.T378T|AGBL2_ENST00000298861.4_Silent_p.T378T|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	378					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	p.T378T(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAATGGTCCACGTGAGACAGT	0.463000													37	116					6.97489e-18	1.02215e-17	0.004878	1	0
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013881	33013881	+	RNA	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:33013881C>A	ENST00000567619.1	-	0	499																											GATACACCTTCACCTACTGCT	0.522000													17	16					8.04996e-18	1.17807e-17	0.001882	1	0
OXTR	5021	broad.mit.edu	37	3	8809147	8809147	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:8809147C>A	ENST00000316793.3	-	3	1351	c.727G>T	c.(727-729)Gcg>Tcg	p.A243S	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	243					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	p.A243S(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CCCTCTGGCGCCTCGGCCGCC	0.672000													3	9					6.4e-05	7.42284e-05	0.004672	1	0
LRMP	4033	broad.mit.edu	37	12	25260973	25260973	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:25260973C>G	ENST00000354454.3	+	21	2308	c.1479C>G	c.(1477-1479)caC>caG	p.H493Q	LRMP_ENST00000547044.1_Missense_Mutation_p.H493Q|LRMP_ENST00000548766.1_Missense_Mutation_p.H493Q	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	549					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		p.H493Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GACTCCGACACAATGGGCCAC	0.443000													24	69					0	0	0.003954	0	0
KIAA1644	85352	broad.mit.edu	37	22	44692577	44692577	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:44692577C>G	ENST00000381176.4	-	3	388	c.256G>C	c.(256-258)Gcc>Ccc	p.A86P		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	86						integral to membrane		p.A86P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TCGGAGCTGGCCGTGAGGTTC	0.592000													36	128					0	0	0.003755	0	0
COL9A1	1297	broad.mit.edu	37	6	70963105	70963105	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:70963105C>A	ENST00000357250.6	-	26	1905	c.1747G>T	c.(1747-1749)Ggt>Tgt	p.G583C	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G340C|COL9A1_ENST00000320755.7_Missense_Mutation_p.G340C	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	583	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G340C(1)|p.G583C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGCAACACCCTTTGCACCA	0.318000													10	78					2.17888e-05	2.55164e-05	0.006214	1	0
HECW2	57520	broad.mit.edu	37	2	197189755	197189755	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:197189755C>G	ENST00000260983.2	-	6	872	c.690G>C	c.(688-690)gaG>gaC	p.E230D	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	230	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.E230D(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TAGACCGTCTCTCCTGCCCGT	0.498000													49	131					0	0	0.003610	0	0
WDR49	151790	broad.mit.edu	37	3	167246938	167246938	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:167246938G>C	ENST00000308378.3	-	10	1557	c.1252C>G	c.(1252-1254)Cat>Gat	p.H418D	WDR49_ENST00000476376.1_Missense_Mutation_p.H243D|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.H482D	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	418								p.H418D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACTCCACTATGAGCCAAAAAT	0.383000													13	49					0	0	0.002450	0	0
ZNF292	23036	broad.mit.edu	37	6	87969729	87969729	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:87969729C>G	ENST00000369577.3	+	8	6425	c.6382C>G	c.(6382-6384)Cag>Gag	p.Q2128E	ZNF292_ENST00000339907.4_Missense_Mutation_p.Q2123E	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q1983E(1)|p.Q2128E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTTTACGATACAGCAAAACTT	0.433000													16	83					0	0	0.006122	0	0
POPDC2	64091	broad.mit.edu	37	3	119373414	119373414	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:119373414A>G	ENST00000493094.1	-	2	997	c.538T>C	c.(538-540)Tac>Cac	p.Y180H	POPDC2_ENST00000538678.1_Missense_Mutation_p.Y180H|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Missense_Mutation_p.Y180H|POPDC2_ENST00000264231.3_Missense_Mutation_p.Y180H			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	180						integral to membrane		p.Y180H(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		ATGAACTGGTATGGAAAGATG	0.547000													13	56					0	0	0.004007	0	0
SLC52A3	113278	broad.mit.edu	37	20	745853	745853	+	Splice_Site	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:745853T>A	ENST00000381944.3	-	2	807	c.567_splice	c.e2+1	p.Q189_splice	SLC52A3_ENST00000217254.7_Splice_Site_p.Q189_splice|SLC52A3_ENST00000473664.1_5'UTR			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	189					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	p.Q189L(1)									GCTGGGTACCTGTGCGATGTC	0.547000													8	46					0	0	0.004482	0	0
DEFB113	245927	broad.mit.edu	37	6	49936521	49936521	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:49936521C>T	ENST00000398718.1	-	2	117	c.118G>A	c.(118-120)Ggt>Agt	p.G40S		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	40					defense response to bacterium	extracellular region		p.G40S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					TTGCAAGCACCACGAACAAGC	0.393000													6	51					0	0	0.001984	0	0
OBSCN	84033	broad.mit.edu	37	1	228529168	228529168	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:228529168G>T	ENST00000570156.2	+	85	20832	c.20758G>T	c.(20758-20760)Gag>Tag	p.E6920*	OBSCN_ENST00000422127.1_Nonsense_Mutation_p.E5963*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.E5963*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.E3082*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.E3597*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5963					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.E6675*(1)|p.E6545*(1)|p.E5963*(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGACCAGGTGGAGGGGGATGA	0.642000													9	27					2.17888e-05	2.55164e-05	0.006214	1	0
FBXO44	93611	broad.mit.edu	37	1	11718337	11718337	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:11718337C>T	ENST00000376770.1	+	4	777	c.279C>T	c.(277-279)ttC>ttT	p.F93F	FBXO44_ENST00000376760.1_Silent_p.F93F|FBXO44_ENST00000376762.4_Silent_p.F93F|FBXO44_ENST00000376768.1_Silent_p.F93F|FBXO44_ENST00000251547.5_Silent_p.F93F|FBXO44_ENST00000251546.4_Silent_p.F93F	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	93	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding	p.F93F(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCGAGTTCTGGAGCCTGG	0.552000													41	97					0	0	0.008740	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122273465	122273465	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:122273465A>G	ENST00000398250.1	+	3	560	c.208A>G	c.(208-210)Aaa>Gaa	p.K70E	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.K60E|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.K70E|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.K70E	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	70					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	p.K70E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTGTGTGGTGAAAATTATCCG	0.423000													12	101					0	0	0.004007	0	0
OLR1	4973	broad.mit.edu	37	12	10312526	10312526	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:10312526C>G	ENST00000309539.3	-	6	835	c.775G>C	c.(775-777)Gct>Cct	p.A259P	OLR1_ENST00000432556.2_3'UTR|OLR1_ENST00000545927.1_3'UTR|OLR1_ENST00000544577.1_Missense_Mutation_p.A151P|OLR1_ENST00000543993.1_3'UTR	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	259	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding	p.A259P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTGAAGGCAGCTAAAATGCAG	0.423000													37	79					0	0	0.004289	0	0
ZNF70	7621	broad.mit.edu	37	22	24086231	24086231	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:24086231C>T	ENST00000341976.3	-	2	1557	c.1097G>A	c.(1096-1098)tGc>tAc	p.C366Y		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	366						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C366Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						ACACTGACAGCACTCGTAGGG	0.582000													17	63					0	0	0.006122	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142537261	142537261	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:142537261G>T	ENST00000295992.3	-	9	1470	c.1164C>A	c.(1162-1164)ggC>ggA	p.G388G	PCOLCE2_ENST00000485766.1_3'UTR	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	388	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.G388G(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCATGATTTTGCCTCGCCCAT	0.358000													22	71					2.89027e-11	3.9774e-11	0.002299	1	0
SHF	90525	broad.mit.edu	37	15	45470396	45470396	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:45470396T>C	ENST00000290894.8	-	3	906	c.412A>G	c.(412-414)Atg>Gtg	p.M138V	SHF_ENST00000561091.1_5'UTR|SHF_ENST00000560471.1_Missense_Mutation_p.M203V|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000458022.2_Start_Codon_SNP_p.M1V|SHF_ENST00000318390.6_Missense_Mutation_p.M195V|SHF_ENST00000560540.1_Missense_Mutation_p.M203V|SHF_ENST00000560734.1_Missense_Mutation_p.M203V	NM_138356.2	NP_612365.2	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	138								p.M138V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TAGGGCTCCATGTAGCCATCA	0.577000													10	53					0	0	0.000978	0	0
CCPG1	9236	broad.mit.edu	37	15	55669161	55669161	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:55669161C>T	ENST00000310958.6	-	5	738	c.440G>A	c.(439-441)tGt>tAt	p.C147Y	CCPG1_ENST00000425574.3_Missense_Mutation_p.C147Y|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.C147Y|CCPG1_ENST00000442196.3_Missense_Mutation_p.C147Y	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	147	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane		p.C147Y(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCTGGCTGACAGAAAGTATA	0.363000													6	75					0	0	0.001984	0	0
ARAP1	116985	broad.mit.edu	37	11	72397194	72397194	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:72397194G>A	ENST00000359373.5	-	33	5046	c.4195C>T	c.(4195-4197)Cgg>Tgg	p.R1399W	ARAP1_ENST00000426523.1_Missense_Mutation_p.R1154W|ARAP1_ENST00000334211.8_Missense_Mutation_p.R1165W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1170W|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1093W|ARAP1_ENST00000495878.1_5'UTR|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1410W|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1399W			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1410					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	p.R1410W(1)|p.R1170W(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGCACTGCCCGGGACACGCGT	0.637000													7	37					0	0	0.004482	0	0
SERPINB6	5269	broad.mit.edu	37	6	2949149	2949149	+	Splice_Site	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:2949149G>A	ENST00000380520.1	-	5	2722	c.729_splice	c.e5+1	p.T243_splice	SERPINB6_ENST00000335686.5_Splice_Site_p.T243_splice|SERPINB6_ENST00000380546.3_Splice_Site_p.T243_splice|SERPINB6_ENST00000380524.1_Splice_Site_p.T243_splice|SERPINB6_ENST00000380529.1_Splice_Site_p.T243_splice|SERPINB6_ENST00000380539.1_Splice_Site_p.T243_splice			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	243					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	p.T243M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	AGCTGTTACCGTTCTCAAGTC	0.498000													13	90					0	0	0.002450	0	0
ITGAE	3682	broad.mit.edu	37	17	3663533	3663533	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:3663533G>A	ENST00000263087.4	-	7	745	c.647C>T	c.(646-648)cCa>cTa	p.P216L		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	216	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P216L(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTGAAAGTCTGGGGGATCAAT	0.488000													7	22					0	0	0.001984	0	0
OR7A5	26659	broad.mit.edu	37	19	14938747	14938747	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:14938747A>T	ENST00000322301.3	-	2	394	c.307T>A	c.(307-309)Ttt>Att	p.F103I	OR7A5_ENST00000594432.1_Missense_Mutation_p.F103I|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F103I(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						AGTATGAAAAAATACATCTGC	0.443000													24	69					0	0	0.003330	0	0
HDLBP	3069	broad.mit.edu	37	2	242179037	242179037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:242179037G>A	ENST00000391975.1	-	19	2817	c.2590C>T	c.(2590-2592)Cag>Tag	p.Q864*	HDLBP_ENST00000391976.2_Nonsense_Mutation_p.Q864*|HDLBP_ENST00000310931.4_Nonsense_Mutation_p.Q864*|HDLBP_ENST00000427183.2_Nonsense_Mutation_p.Q831*	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	864	KH 10.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.Q864*(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATGATCTCCTGAATGCGTTTC	0.607000													17	90					0	0	0.006122	0	0
OR10G2	26534	broad.mit.edu	37	14	22102184	22102184	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:22102184G>T	ENST00000542433.1	-	1	912	c.815C>A	c.(814-816)cCc>cAc	p.P272H		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P272N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCCATCCAGGGGGTCTTTGGA	0.542000													14	87					4.3838e-07	5.45917e-07	0.001855	1	0
FAM227B	196951	broad.mit.edu	37	15	49833939	49833939	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:49833939C>T	ENST00000299338.6	-	10	1115	c.812G>A	c.(811-813)aGt>aAt	p.S271N	FAM227B_ENST00000561064.1_Missense_Mutation_p.S237N	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B									p.S271N(1)									AAAGAGGTAACTCGATTCTGG	0.279000													30	100					0	0	0.002096	0	0
PTMA	5757	broad.mit.edu	37	2	232576100	232576100	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:232576100G>A	ENST00000409115.3	+	2	286	c.88G>A	c.(88-90)Gga>Aga	p.G30R	PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000410064.1_Missense_Mutation_p.G56R|PTMA_ENST00000409683.1_Missense_Mutation_p.G30R|PTMA_ENST00000409321.1_Missense_Mutation_p.G51R|PTMA_ENST00000341369.7_Missense_Mutation_p.G30R	NM_002823.4	NP_002814.3	P06454	PTMA_HUMAN	prothymosin, alpha	30					transcription, DNA-dependent	nucleus		p.G30R(1)		lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGCAGAAAATGGAAGAGACGC	0.483000													6	61					0	0	0.001168	0	0
PPEF1	5475	broad.mit.edu	37	X	18842157	18842157	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:18842157T>C	ENST00000361511.4	+	17	2112	c.1618T>C	c.(1618-1620)Tac>Cac	p.Y540H	PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000544635.1_Missense_Mutation_p.Y475H|PPEF1_ENST00000349874.5_Missense_Mutation_p.Y478H|PPEF1_ENST00000359763.6_Missense_Mutation_p.Y487H	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	540					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.Y540H(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AAACGTTGAATACATGTCCAG	0.438000													30	67					0	0	0.009535	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782711	115782711	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:115782711C>G	ENST00000343348.6	-	19	3478	c.2691G>C	c.(2689-2691)caG>caC	p.Q897H	SEMA6A_ENST00000503865.1_Missense_Mutation_p.Q276H|SEMA6A_ENST00000282394.6_Missense_Mutation_p.Q374H|SEMA6A_ENST00000257414.8_Missense_Mutation_p.Q914H|SEMA6A_ENST00000510263.1_Missense_Mutation_p.Q897H|SEMA6A_ENST00000513137.1_Missense_Mutation_p.Q324H	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	897					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.Q897H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TTAGACCGGTCTGAGACAGGG	0.617000													17	117					0	0	0.006122	0	0
PDE10A	10846	broad.mit.edu	37	6	165809841	165809841	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:165809841G>A	ENST00000366882.1	-	15	1510	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	PDE10A_ENST00000354448.4_Silent_p.F452F|PDE10A_ENST00000539869.2_Silent_p.F462F			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	452					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.F452F(1)		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)	CGGGAAGGGTGAATTGCATGA	0.408000													21	77					0	0	0.001882	0	0
FAM188B	84182	broad.mit.edu	37	7	30931616	30931616	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:30931616T>A	ENST00000265299.6	+	18	2347	c.2270T>A	c.(2269-2271)cTg>cAg	p.L757Q	AQP1_ENST00000434909.2_Intron|INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Intron	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	757								p.L757Q(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCCCATCCTGTGACCGTTG	0.557000													18	115					0	0	0.010504	0	0
CWH43	80157	broad.mit.edu	37	4	49006003	49006003	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:49006003C>T	ENST00000226432.4	+	7	1237	c.1054C>T	c.(1054-1056)Ctt>Ttt	p.L352F	CWH43_ENST00000513409.1_Missense_Mutation_p.L325F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	352					GPI anchor biosynthetic process	integral to membrane		p.L352F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATCAGATGTGCTTTTGGGTGA	0.373000													5	23					0	0	0.000602	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698577	111698577	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:111698577C>G	ENST00000340433.2	+	1	851	c.621C>G	c.(619-621)gaC>gaG	p.D207E		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	207							nucleic acid binding|zinc ion binding	p.D207E(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATCTTCCAGACCTGATCACTC	0.473000													34	98					0	0	0.002445	0	0
MUC5B	727897	broad.mit.edu	37	11	1267459	1267459	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:1267459A>T	ENST00000447027.1	+	31	9416	c.9358A>T	c.(9358-9360)Agg>Tgg	p.R3120W	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.R3117W			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3117	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.R3117L(1)|p.R3096L(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCACGACAAGGGCCACCAG	0.637000													12	84					0	0	0.000978	0	0
RP1L1	94137	broad.mit.edu	37	8	10480175	10480175	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:10480175G>T	ENST00000382483.3	-	2	760	c.537C>A	c.(535-537)gcC>gcA	p.A179A	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	179					intracellular signal transduction			p.A179A(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGAGAAAGGCGGCCAGGTTCC	0.537000													14	130					0.000219431	0.000249536	0.002450	1	0
SLC5A1	6523	broad.mit.edu	37	22	32477866	32477866	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:32477866C>A	ENST00000266088.4	+	6	741	c.491C>A	c.(490-492)tCg>tAg	p.S164*	SLC5A1_ENST00000543737.1_Nonsense_Mutation_p.S37*	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	164					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.S164*(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GACATCTTCTCGGGGGCCATA	0.502000													39	173					3.61848e-18	5.32483e-18	0.007835	1	0
TEX30	93081	broad.mit.edu	37	13	103419696	103419696	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:103419696C>G	ENST00000376019.1	-	3	1144	c.308G>C	c.(307-309)aGa>aCa	p.R103T	TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376022.1_Intron|TEX30_ENST00000376021.4_Missense_Mutation_p.R103T|TEX30_ENST00000376032.4_Missense_Mutation_p.R144T			Q5JUR7	CM027_HUMAN	testis expressed 30	144								p.R144T(2)|p.R103T(2)		lung(1)|urinary_tract(1)	2						GTCTTCATCTCTGAGTTTATG	0.408000													11	86					0	0	0.000978	0	0
PARD6B	84612	broad.mit.edu	37	20	49366952	49366952	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:49366952C>T	ENST00000371610.2	+	3	1289	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	349					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	p.S349L(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GCAAGCAGCTCAAACACGGAA	0.403000													5	74					0	0	0.000602	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987926	154987926	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:154987926C>T	ENST00000368426.3	+	3	927	c.790C>T	c.(790-792)Cct>Tct	p.P264S	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.P264S|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.P264S|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.P298S	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	264					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.P264S(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGCCTCCCCTCCTGAGGGTCC	0.662000													4	32					0	0	0.009096	0	0
STX11	8676	broad.mit.edu	37	6	144508051	144508051	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:144508051G>T	ENST00000367568.4	+	2	470	c.287G>T	c.(286-288)cGg>cTg	p.R96L		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	96				RG -> PP (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	p.R96L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ATCAAGGCCCGGGGCGAGGTC	0.677000									Familial Hemophagocytic Lymphohistiocytosis				5	21					2.7689e-08	3.57396e-08	0.001984	1	0
OR4A5	81318	broad.mit.edu	37	11	51411647	51411647	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:51411647G>T	ENST00000319760.6	-	1	801	c.749C>A	c.(748-750)cCc>cAc	p.P250H		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P250Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GAAAATACAGGGTACAAAAAA	0.398000													6	80					5.9392e-07	7.37017e-07	0.001168	1	0
OR4K1	79544	broad.mit.edu	37	14	20404637	20404637	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:20404637T>A	ENST00000285600.4	+	1	871	c.812T>A	c.(811-813)cTt>cAt	p.L271H		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L271H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GACAAATTTCTTTCTGTGTTC	0.418000													18	304					0	0	0.007413	0	0
ITGAM	3684	broad.mit.edu	37	16	31332815	31332815	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:31332815C>A	ENST00000544665.3	+	16	1943	c.1872C>A	c.(1870-1872)atC>atA	p.I624I	ITGAM_ENST00000287497.8_Silent_p.I623I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	623					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.I623I(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TCAAGGCAATCATGGAGTTCA	0.498000													32	348					1.06647e-15	1.53949e-15	0.003755	1	0
IRF8	3394	broad.mit.edu	37	16	85946794	85946794	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:85946794T>A	ENST00000268638.5	+	5	927	c.505T>A	c.(505-507)Tgt>Agt	p.C169S		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	169					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.C169S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCGGAGGCCTGTCGGAGTCA	0.612000													20	70					0	0	0.010504	0	0
STK26	51765	broad.mit.edu	37	X	131202484	131202484	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:131202484G>A	ENST00000394334.2	+	6	737	c.484G>A	c.(484-486)Gat>Aat	p.D162N	MST4_ENST00000481105.1_Missense_Mutation_p.D184N|MST4_ENST00000354719.6_Missense_Mutation_p.D162N|MST4_ENST00000394335.2_Missense_Mutation_p.D85N|MST4_ENST00000496850.1_Missense_Mutation_p.D162N	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		162	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.D162N(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TAAACTTGCTGATTTTGGAGT	0.398000													18	101					0	0	0.007413	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33561167	33561167	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:33561167G>A	ENST00000504830.1	-	20	4425	c.4090C>T	c.(4090-4092)Ccc>Tcc	p.P1364S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1279S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1364	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1364S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGCACAGGGACGGAGGTGG	0.567000										HNSCC(64;0.19)			38	153					0	0	0.005524	0	0
NEB	4703	broad.mit.edu	37	2	152522680	152522680	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:152522680G>A	ENST00000397345.3	-	41	5157	c.4955C>T	c.(4954-4956)tCa>tTa	p.S1652L	NEB_ENST00000603639.1_Missense_Mutation_p.S1652L|NEB_ENST00000172853.10_Missense_Mutation_p.S1652L|NEB_ENST00000409198.1_Missense_Mutation_p.S1652L|NEB_ENST00000427231.2_Missense_Mutation_p.S1652L|NEB_ENST00000604864.1_Missense_Mutation_p.S1652L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1652					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.S1652L(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGGTGGTATGACTGTCTGTA	0.498000													38	140					0	0	0.004878	0	0
GOLGB1	2804	broad.mit.edu	37	3	121396161	121396161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:121396161G>A	ENST00000393667.3	-	16	9120	c.9010C>T	c.(9010-9012)Cag>Tag	p.Q3004*	GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.Q2999*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2999					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.Q2999*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTGAGAGGCTGAGTCTGGGAG	0.383000													16	96					0	0	0.004990	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035917	110035917	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:110035917C>T	ENST00000453089.2	+	5	2895	c.2014C>T	c.(2014-2016)Ctt>Ttt	p.L672F	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.L703F|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.L704F			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	703							endonuclease activity|nucleic acid binding|zinc ion binding	p.L703F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CAAGCCTCCTCTTCCGCACCT	0.582000													63	173					0	0	0.003610	0	0
RNF157	114804	broad.mit.edu	37	17	74155488	74155488	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:74155488C>T	ENST00000269391.6	-	12	1364	c.1232G>A	c.(1231-1233)aGg>aAg	p.R411K	RNF157_ENST00000319945.6_Missense_Mutation_p.R411K	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	411							zinc ion binding	p.R1014K(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CGAGATCGTCCTGACGGGGGG	0.577000													18	69					0	0	0.006122	0	0
SYNE1	23345	broad.mit.edu	37	6	152832221	152832221	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:152832221A>G	ENST00000367255.5	-	7	928	c.327T>C	c.(325-327)atT>atC	p.I109I	SYNE1_ENST00000367253.4_Silent_p.I109I|SYNE1_ENST00000448038.1_Silent_p.I116I|SYNE1_ENST00000413186.2_Silent_p.I109I|SYNE1_ENST00000466159.2_Silent_p.I109I|SYNE1_ENST00000265368.4_Silent_p.I109I|SYNE1_ENST00000423061.1_Silent_p.I116I|SYNE1_ENST00000367248.3_Silent_p.I116I|SYNE1_ENST00000341594.5_Silent_p.I109I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	109	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.I109I(2)|p.I116I(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGGTGGAGTTAATGTTGACTA	0.328000										HNSCC(10;0.0054)			33	97					0	0	0.002836	0	0
STXBP4	252983	broad.mit.edu	37	17	53150368	53150368	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:53150368G>T	ENST00000376352.2	+	13	1326	c.1119G>T	c.(1117-1119)gtG>gtT	p.V373V	STXBP4_ENST00000434978.2_Silent_p.V351V	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	373						cytoplasm	calcium ion binding	p.V373V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATGAAGAAGTGATCCGTCTGT	0.443000													11	80					1.08611e-07	1.3686e-07	0.000978	1	0
OASL	8638	broad.mit.edu	37	12	121465579	121465579	+	Silent	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:121465579G>C	ENST00000257570.5	-	4	969	c.699C>G	c.(697-699)ctC>ctG	p.L233L	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	233					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	p.L233L(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGAGCATAGAGAGGGGGCA	0.488000													6	81					0	0	0.001168	0	0
SLC22A10	387775	broad.mit.edu	37	11	63067051	63067051	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:63067051G>A	ENST00000544661.1	+	7	983	c.555G>A	c.(553-555)ttG>ttA	p.L185L	SLC22A10_ENST00000535888.1_Silent_p.L130L|SLC22A10_ENST00000332793.6_Silent_p.L340L|SLC22A10_ENST00000526800.1_Silent_p.L180L|SLC22A10_ENST00000525620.1_3'UTR			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	340						integral to membrane	transmembrane transporter activity	p.L340L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTGTGACTTGTTCCGCAACC	0.398000													7	41					0	0	0.004482	0	0
DOPEY1	23033	broad.mit.edu	37	6	83829494	83829494	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:83829494G>A	ENST00000349129.2	+	9	1168	c.908G>A	c.(907-909)gGa>gAa	p.G303E	DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Splice_Site_p.G294_splice|DOPEY1_ENST00000369739.3_Splice_Site_p.G294_splice	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	303					protein transport			p.G303E(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTATCATAGGACCCAGAAGC	0.333000													12	96					0	0	0.003163	0	0
PLB1	151056	broad.mit.edu	37	2	28812608	28812608	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:28812608C>G	ENST00000422425.2	+	27	1998	c.1954C>G	c.(1954-1956)Cga>Gga	p.R652G	PLB1_ENST00000327757.5_Missense_Mutation_p.R663G|PLB1_ENST00000329020.6_Missense_Mutation_p.R351G	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	663	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.R663G(1)|p.R652G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTCTCACTCCCGAGCAGCCAG	0.498000													15	91					0	0	0.003163	0	0
KLHL25	64410	broad.mit.edu	37	15	86312160	86312160	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:86312160G>T	ENST00000337975.5	-	2	1156	c.882C>A	c.(880-882)ggC>ggA	p.G294G	KLHL25_ENST00000536947.1_Silent_p.G294G|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	294						cytoplasm		p.G294G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GTAGCGTGTGGCCCGCCTTGC	0.617000													7	42					0.000274275	0.000307292	0.004482	1	0
TTN	7273	broad.mit.edu	37	2	179407655	179407655	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:179407655G>C	ENST00000589042.1	-	348	97150	c.96926C>G	c.(96925-96927)tCt>tGt	p.S32309C	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23436C|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23369C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S30668C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S23244C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29741C|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30668	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S29739C(1)|p.S23436C(1)|p.S23244C(1)|p.S23369C(1)|p.S29741C(1)		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)			AGGCATTGTAGAAAGATCGAT	0.418000													28	309					0	0	0.008361	0	0
MMP17	4326	broad.mit.edu	37	12	132325149	132325149	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:132325149G>A	ENST00000360564.1	+	4	556	c.454G>A	c.(454-456)Ggg>Agg	p.G152R	MMP17_ENST00000535291.1_Missense_Mutation_p.G68R	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	152					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.G152R(1)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTCACCACTGGGGCACGACAC	0.667000													7	102					0	0	0.001984	0	0
ADD3	120	broad.mit.edu	37	10	111878420	111878420	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:111878420C>A	ENST00000277900.8	+	6	1008	c.643C>A	c.(643-645)Ccc>Acc	p.P215T	ADD3_ENST00000356080.4_Missense_Mutation_p.P215T|ADD3_ENST00000360162.3_Missense_Mutation_p.P215T	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	215						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.P215T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		AGGATTCAGTCCCCATGCTGC	0.398000													6	52					2.7689e-08	3.57396e-08	0.001984	1	0
BLVRA	644	broad.mit.edu	37	7	43843411	43843411	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:43843411G>T	ENST00000402924.1	+	8	760	c.597G>T	c.(595-597)atG>atT	p.M199I	BLVRA_ENST00000265523.4_Missense_Mutation_p.M199I	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	199					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	p.M199I(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	ATCAGTATATGAAAATGACAG	0.468000													21	138					1.96895e-08	2.5664e-08	0.002780	1	0
CACNA2D1	781	broad.mit.edu	37	7	81693659	81693659	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:81693659C>T	ENST00000356860.3	-	9	1078	c.740G>A	c.(739-741)gGa>gAa	p.G247E	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G247E|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.G247E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	247						voltage-gated calcium channel complex	metal ion binding	p.G247E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGATGCAGCTCCTTGGATGTA	0.318000													13	33					0	0	0.003163	0	0
BTBD3	22903	broad.mit.edu	37	20	11903589	11903589	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:11903589G>A	ENST00000405977.1	+	5	1469	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000378226.2_Missense_Mutation_p.E282K|BTBD3_ENST00000254977.3_Missense_Mutation_p.E221K|BTBD3_ENST00000399006.2_Missense_Mutation_p.E221K			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	282								p.E282K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GAATGCCAAAGAAATTGTGGT	0.448000													13	90					0	0	0.001368	0	0
CACNA1E	777	broad.mit.edu	37	1	181701927	181701927	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:181701927G>A	ENST00000526775.1	+	19	2813	c.2648G>A	c.(2647-2649)gGa>gAa	p.G883E	CACNA1E_ENST00000367567.4_Missense_Mutation_p.G509E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G902E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G853E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G902E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G883E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G834E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	902					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G902E(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGGGGGAGGAGAGGCTGTG	0.657000													9	68					0	0	0.004482	0	0
LCT	3938	broad.mit.edu	37	2	136575357	136575357	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:136575357C>T	ENST00000264162.2	-	6	1271	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	421	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.E421K(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTTGGCCCTCAGTGGTGTTC	0.642000													7	69					0	0	0.001984	0	0
CHN1	1123	broad.mit.edu	37	2	175673684	175673684	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:175673684G>T	ENST00000409900.3	-	11	1364	c.1051C>A	c.(1051-1053)Cca>Aca	p.P351T	CHN1_ENST00000409156.3_Missense_Mutation_p.P325T|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.P167T|CHN1_ENST00000295497.7_Missense_Mutation_p.P226T	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	351	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.P351T(1)|p.P226T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGTGGAATTGGCAAATCCCTG	0.368000			T	TAF15	extraskeletal myxoid chondrosarcoma								27	190					7.26314e-15	1.04562e-14	0.007291	1	0
MARK1	4139	broad.mit.edu	37	1	220808735	220808735	+	Silent	SNP	G	G	C	rs148023363		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:220808735G>C	ENST00000402574.1	+	12	1737	c.735G>C	c.(733-735)tcG>tcC	p.S245S	MARK1_ENST00000366918.4_Silent_p.S358S|MARK1_ENST00000366917.4_Silent_p.S380S	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	380	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.S380S(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GTGGTGAATCGTTATCCAGTG	0.403000													11	50					0	0	0.000978	0	0
KLHL1	57626	broad.mit.edu	37	13	70293684	70293684	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:70293684C>A	ENST00000377844.4	-	9	2591	c.1832G>T	c.(1831-1833)aGt>aTt	p.S611I	KLHL1_ENST00000545028.1_Missense_Mutation_p.S418I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	611					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S611I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAAACAGGAACTTCCATCACG	0.388000													12	45					1.49906e-05	1.76722e-05	0.002450	1	0
MMP16	4325	broad.mit.edu	37	8	89128820	89128820	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:89128820G>T	ENST00000286614.6	-	6	1280	c.999C>A	c.(997-999)ccC>ccA	p.P333P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	333					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.P333P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CGGGATAGGAGGGTCTGCCGG	0.522000													15	78					4.14922e-12	5.76975e-12	0.004007	1	0
DSC2	1824	broad.mit.edu	37	18	28650703	28650703	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr18:28650703C>T	ENST00000280904.6	-	14	2682	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	DSC2_ENST00000251081.6_Missense_Mutation_p.D747N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	747					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.D747N(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACTTTGTCATCTCCAGGAGCT	0.383000													6	65					0	0	0.003080	0	0
BPIFA2	140683	broad.mit.edu	37	20	31757084	31757084	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:31757084G>C	ENST00000253362.2	+	2	279	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	BPIFA2_ENST00000354932.5_Missense_Mutation_p.E45Q			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	45						extracellular region	lipid binding	p.E45Q(1)									CGAGGGACTTGAGACAGTTGA	0.468000													11	90					0	0	0.008291	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27831774	27831774	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:27831774G>A	ENST00000396319.2	+	9	1276	c.1188G>A	c.(1186-1188)ttG>ttA	p.L396L	TAX1BP1_ENST00000543117.1_Silent_p.L396L|TAX1BP1_ENST00000433216.2_Silent_p.L239L|TAX1BP1_ENST00000409980.1_Silent_p.L396L|TAX1BP1_ENST00000265393.6_Silent_p.L396L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	396	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.L396L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CTGCACGCTTGGAAAACGAGA	0.408000													8	26					0	0	0.003080	0	0
STAB2	55576	broad.mit.edu	37	12	104089375	104089375	+	Silent	SNP	C	C	T	rs143014449		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:104089375C>T	ENST00000388887.2	+	32	3627	c.3423C>T	c.(3421-3423)ctC>ctT	p.L1141L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1141	FAS1 4.				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	p.L1141L(1)		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						CAAACCTGCTCATGCGGCTGG	0.502000													27	85					0	0	0.002445	0	0
MYO18B	84700	broad.mit.edu	37	22	26168354	26168354	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:26168354C>T	ENST00000335473.7	+	7	1996	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V	MYO18B_ENST00000536101.1_Silent_p.V582V|MYO18B_ENST00000407587.2_Silent_p.V582V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	582	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.V582V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCATCAGTGTCAACGAATCCA	0.597000													21	101					0	0	0.002780	0	0
EPHB1	2047	broad.mit.edu	37	3	134920429	134920429	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:134920429G>T	ENST00000398015.3	+	12	2614	c.2244G>T	c.(2242-2244)agG>agT	p.R748S	EPHB1_ENST00000493838.1_Missense_Mutation_p.R309S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	748	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R748S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGCTGCTAGGAACATTCTGG	0.552000													29	136					4.02929e-09	5.33717e-09	0.002096	1	0
CP	1356	broad.mit.edu	37	3	148904392	148904392	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:148904392T>C	ENST00000264613.6	-	11	2254	c.1992A>G	c.(1990-1992)acA>acG	p.T664T	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	664	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.T664T(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TCCACAGATATGTGTTTCCTG	0.468000													5	71					0	0	0.000602	0	0
BMS1	9790	broad.mit.edu	37	10	43297597	43297597	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:43297597A>G	ENST00000374518.4	+	13	2323	c.2260A>G	c.(2260-2262)Atc>Gtc	p.I754V		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	754					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.I754V(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TATGAACAGTATCAGAGATTG	0.438000													3	17					0	0	0.004672	0	0
MUC4	4585	broad.mit.edu	37	3	195498653	195498653	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:195498653G>C	ENST00000463781.3	-	5	13571	c.13112C>G	c.(13111-13113)tCa>tGa	p.S4371*	MUC4_ENST00000346145.4_Nonsense_Mutation_p.S135*|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S4371*|MUC4_ENST00000349607.4_Nonsense_Mutation_p.S84*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1128					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S4371*(1)|p.S4243*(1)|p.S135*(1)		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)		CTGGTAGTCTGACTCTGGGAA	0.567000													13	115					0	0	0.001855	0	0
HHAT	55733	broad.mit.edu	37	1	210522330	210522330	+	Translation_Start_Site	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:210522330G>A	ENST00000308852.6	+	0	206				HHAT_ENST00000537898.1_Missense_Mutation_p.R4Q|HHAT_ENST00000391905.3_Missense_Mutation_p.R4Q|HHAT_ENST00000367010.1_Missense_Mutation_p.R4Q|HHAT_ENST00000541565.1_Missense_Mutation_p.R4Q|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000261458.3_Missense_Mutation_p.R4Q|HHAT_ENST00000413764.2_Missense_Mutation_p.R4Q|HHAT_ENST00000545781.1_Intron			Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase						multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	p.R4Q(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		ATGCTGCCCCGATGGGAACTG	0.478000													6	69					0	0	0.003080	0	0
TBCD	6904	broad.mit.edu	37	17	80887119	80887119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:80887119C>T	ENST00000355528.4	+	31	2954	c.2824C>T	c.(2824-2826)Cga>Tga	p.R942*	TBCD_ENST00000539345.2_Nonsense_Mutation_p.R942*	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	942					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	p.R942*(2)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CGTGCCCCACCGAGGAGAACT	0.642000													8	23					0	0	0.004482	0	0
MGA	23269	broad.mit.edu	37	15	42021492	42021492	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:42021492C>A	ENST00000219905.7	+	11	3969	c.3788C>A	c.(3787-3789)tCa>tAa	p.S1263*	MGA_ENST00000566586.1_Nonsense_Mutation_p.S1263*|MGA_ENST00000389936.4_Nonsense_Mutation_p.S1263*|MGA_ENST00000545763.1_Nonsense_Mutation_p.S1263*|MGA_ENST00000570161.1_Nonsense_Mutation_p.S1263*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1263	Poly-Ser.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S1263*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCATCTCCATCATTTCAGCAG	0.403000													12	46					7.03913e-09	9.23178e-09	0.001368	1	0
THBS2	7058	broad.mit.edu	37	6	169637359	169637359	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:169637359G>A	ENST00000366787.3	-	10	1632	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	461	TSP type-1 2.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.I461I(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGCAGAGACGGATGCGTGTGA	0.602000													4	22					0	0	0.009096	0	0
OR2M5	127059	broad.mit.edu	37	1	248308574	248308574	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:248308574A>G	ENST00000366476.1	+	1	125	c.125A>G	c.(124-126)aAc>aGc	p.N42S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N42S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCATGGGAAACTCTGTCATG	0.522000													38	343					0	0	0.003610	0	0
SP100	6672	broad.mit.edu	37	2	231359144	231359144	+	Missense_Mutation	SNP	G	G	T	rs138814189	byFrequency	TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:231359144G>T	ENST00000264052.5	+	18	1969	c.1614G>T	c.(1612-1614)agG>agT	p.R538S	SP100_ENST00000340126.4_Missense_Mutation_p.R538S|SP100_ENST00000409112.1_Missense_Mutation_p.R538S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	538					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	p.R538S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAAGAGAAGGCATAGATCTA	0.363000													5	46					0.00116845	0.00128735	0.001168	1	0
NAALADL2	254827	broad.mit.edu	37	3	174974218	174974218	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:174974218A>T	ENST00000454872.1	+	4	966	c.838A>T	c.(838-840)Agt>Tgt	p.S280C	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	280					proteolysis	integral to membrane	peptidase activity	p.S280C(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CATCGATGTGAGTTATGGAAT	0.328000													11	68					0	0	0.000978	0	0
MGAM	8972	broad.mit.edu	37	7	141759384	141759384	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:141759384G>T	ENST00000475668.2	+	32	3986	c.3932G>T	c.(3931-3933)cGg>cTg	p.R1311L	MGAM_ENST00000549489.2_Missense_Mutation_p.R1311L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1311	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R1311L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATGGGATGCGGGTCATCCTC	0.507000													7	94					3.09899e-07	3.87282e-07	0.004482	1	0
OSBPL1A	114876	broad.mit.edu	37	18	21921570	21921570	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr18:21921570C>A	ENST00000319481.3	-	5	541	c.335G>T	c.(334-336)gGg>gTg	p.G112V		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	112					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	p.G112V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTGTCCACTCCCATTAACAAT	0.313000													9	60					1.58986e-06	1.94561e-06	0.008291	1	0
MID1	4281	broad.mit.edu	37	X	10427696	10427696	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:10427696C>T	ENST00000317552.4	-	8	1837	c.1437G>A	c.(1435-1437)ttG>ttA	p.L479L	MID1_ENST00000380787.1_Silent_p.L479L|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Silent_p.L479L|MID1_ENST00000380779.1_Silent_p.L479L|MID1_ENST00000380780.1_Silent_p.L479L|MID1_ENST00000380782.2_Silent_p.L479L|MID1_ENST00000380785.1_Silent_p.L479L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	479	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	p.L479L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGTTTGTCTTCAACTTCCCAG	0.517000													17	131					0	0	0.007413	0	0
ADCY2	108	broad.mit.edu	37	5	7724707	7724707	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:7724707A>T	ENST00000338316.4	+	13	1842	c.1753A>T	c.(1753-1755)Aac>Tac	p.N585Y	ADCY2_ENST00000537121.1_Missense_Mutation_p.N405Y|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	585					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.N585Y(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCTTTTCTATAACAAAGTACT	0.328000													17	113					0	0	0.004007	0	0
PDE1A	5136	broad.mit.edu	37	2	183095846	183095846	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:183095846A>G	ENST00000435564.1	-	5	678	c.478T>C	c.(478-480)Tgg>Cgg	p.W160R	PDE1A_ENST00000536095.1_Missense_Mutation_p.W56R|PDE1A_ENST00000410103.1_Missense_Mutation_p.W160R|PDE1A_ENST00000456212.1_Missense_Mutation_p.W160R|PDE1A_ENST00000409365.1_Missense_Mutation_p.W144R|PDE1A_ENST00000358139.2_Missense_Mutation_p.W160R|PDE1A_ENST00000351439.5_Missense_Mutation_p.W144R|PDE1A_ENST00000331935.6_Missense_Mutation_p.W160R|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.W126R	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	160					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.W160R(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCGAAAGACCATTTATCAACA	0.318000													10	116					0	0	0.006214	0	0
COL24A1	255631	broad.mit.edu	37	1	86590639	86590639	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:86590639G>A	ENST00000370571.2	-	3	1746	c.1380C>T	c.(1378-1380)ccC>ccT	p.P460P	COL24A1_ENST00000436319.1_Silent_p.P460P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	460					cell adhesion	collagen	extracellular matrix structural constituent	p.P460P(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TATTTTCGATGGGATAAGTAG	0.353000													6	43					0	0	0.001168	0	0
TDRD1	56165	broad.mit.edu	37	10	115987680	115987680	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:115987680A>G	ENST00000251864.2	+	24	3568	c.3415A>G	c.(3415-3417)Agg>Ggg	p.R1139G	TDRD1_ENST00000369280.1_Missense_Mutation_p.R1063G|TDRD1_ENST00000369282.1_Missense_Mutation_p.R1063G|TDRD1_ENST00000422662.1_Missense_Mutation_p.R667G|TDRD1_ENST00000369281.2_Missense_Mutation_p.R1025G	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1139					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.R1139G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAGATGTATAGGATGAATTG	0.308000													10	97					0	0	0.001368	0	0
GPR98	84059	broad.mit.edu	37	5	90052969	90052969	+	Silent	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:90052969A>T	ENST00000405460.2	+	57	12027	c.11931A>T	c.(11929-11931)gcA>gcT	p.A3977A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3977	Calx-beta 26.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.A3977A(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAATTTGCAGATAAACAGG	0.403000													6	32					0	0	0.001168	0	0
GPR12	2835	broad.mit.edu	37	13	27333674	27333674	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:27333674G>A	ENST00000405846.3	-	2	512	c.291C>T	c.(289-291)ctC>ctT	p.L97L	GPR12_ENST00000381436.2_Silent_p.L97L	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	97						integral to plasma membrane		p.L97L(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		AATTGGTGATGAGTCCAATGC	0.542000													5	54					0	0	0.001168	0	0
AVPR1B	553	broad.mit.edu	37	1	206224616	206224616	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:206224616T>A	ENST00000367126.4	+	1	641	c.176T>A	c.(175-177)cTg>cAg	p.L59Q		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	59					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.L59Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGCTGACCCTGGGCCAGCTG	0.682000													13	66					0	0	0.002450	0	0
TECRL	253017	broad.mit.edu	37	4	65274987	65274987	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:65274987T>C	ENST00000381210.3	-	1	193	c.83A>G	c.(82-84)gAt>gGt	p.D28G	TECRL_ENST00000507440.1_Missense_Mutation_p.D28G	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	28					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.D28G(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCTCATATCATCCTTCAGTAT	0.433000													12	80					0	0	0.001368	0	0
PCLO	27445	broad.mit.edu	37	7	82583767	82583767	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:82583767C>A	ENST00000423517.2	-	5	6839	c.6502G>T	c.(6502-6504)Gag>Tag	p.E2168*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.E2168*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2099					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E2168*(2)|p.E2099*(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGAAGGCTCCGAGTAGGTC	0.413000													14	75					9.31168e-06	1.11133e-05	0.001855	1	0
NTRK3	4916	broad.mit.edu	37	15	88680696	88680696	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:88680696G>A	ENST00000394480.1	-	7	882	c.561C>T	c.(559-561)ctC>ctT	p.L187L	NTRK3_ENST00000360948.2_Silent_p.L187L|NTRK3_ENST00000317501.3_Silent_p.L187L|NTRK3_ENST00000542733.2_Silent_p.L89L|NTRK3_ENST00000357724.2_Silent_p.L187L|NTRK3_ENST00000558676.1_Silent_p.L187L|NTRK3_ENST00000557856.1_Silent_p.L187L|NTRK3_ENST00000355254.2_Silent_p.L187L|NTRK3_ENST00000540489.2_Silent_p.L187L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	187	LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L187L(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATGCAGTAGAGGTTCTGGC	0.587000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			9	25					0	0	0.000978	0	0
GTPBP3	84705	broad.mit.edu	37	19	17452350	17452350	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:17452350G>T	ENST00000324894.8	+	9	1385	c.1317G>T	c.(1315-1317)caG>caT	p.Q439H	GTPBP3_ENST00000361619.5_Missense_Mutation_p.Q461H|GTPBP3_ENST00000358792.7_Missense_Mutation_p.Q471H|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.Q418H	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	439					tRNA modification	mitochondrion	GTP binding|GTPase activity	p.Q471H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						ACCACCTCCAGGGTTGCCTGG	0.657000													25	45					1.42536e-11	1.97429e-11	0.004656	1	0
FOXD3	27022	broad.mit.edu	37	1	63789535	63789535	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:63789535G>T	ENST00000371116.2	+	1	806	c.806G>T	c.(805-807)gGa>gTa	p.G269V	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	269					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G269V(1)		breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						ggcgccgcgggACCCTACGGC	0.771000													3	7					0.004672	0.005053	0.004672	1	0
FIG4	9896	broad.mit.edu	37	6	110113828	110113828	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:110113828C>G	ENST00000230124.3	+	21	2544	c.2420C>G	c.(2419-2421)tCa>tGa	p.S807*	FIG4_ENST00000441478.2_Nonsense_Mutation_p.S530*	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	807					cell death	endosome membrane	protein binding	p.S807*(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		ATTAACCTCTCAGATGGCCTC	0.313000													6	40					0	0	0.001984	0	0
IL12RB2	3595	broad.mit.edu	37	1	67833639	67833639	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:67833639G>A	ENST00000262345.1	+	10	2030	c.1390G>A	c.(1390-1392)Ggg>Agg	p.G464R	IL12RB2_ENST00000541374.1_Missense_Mutation_p.G464R|IL12RB2_ENST00000544434.1_Missense_Mutation_p.G464R|IL12RB2_ENST00000371000.1_Missense_Mutation_p.G464R	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	464	Fibronectin type-III 4.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.G464R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GCTCCATCCAGGGGGTGACAC	0.532000													14	54					0	0	0.003163	0	0
C10orf137	26098	broad.mit.edu	37	10	127442261	127442261	+	Splice_Site	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:127442261A>G	ENST00000337623.3	+	23	3396		c.e23-1		C10orf137_ENST00000356792.4_Splice_Site	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGTTGTTTTTAGCCTAAGAGT	0.403000													19	63					0	0	0.010504	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986077	31986077	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr21:31986077A>G	ENST00000329122.2	-	1	172	c.147T>C	c.(145-147)taT>taC	p.Y49Y		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	49						cytosol|intermediate filament		p.Y49Y(1)		breast(2)|endometrium(1)|lung(7)	10						AGCCATAGCCATAGCCACAGC	0.597000													39	127					0	0	0.007835	0	0
ITGA8	8516	broad.mit.edu	37	10	15628602	15628602	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:15628602C>A	ENST00000378076.3	-	23	2706	c.2353G>T	c.(2353-2355)Gcg>Tcg	p.A785S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	785					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.A785S(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCACCTGCGCTACAGCAGTG	0.368000													6	42					1.06961e-07	1.35587e-07	0.003080	1	0
HNF1A	6927	broad.mit.edu	37	12	121426785	121426785	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:121426785G>T	ENST00000257555.6	+	2	702	c.476G>T	c.(475-477)cGg>cTg	p.R159L	HNF1A_ENST00000402929.1_Missense_Mutation_p.R159L|HNF1A_ENST00000400024.2_Missense_Mutation_p.R159L|HNF1A_ENST00000543427.1_Missense_Mutation_p.R42L|HNF1A_ENST00000541395.1_Missense_Mutation_p.R159L|HNF1A_ENST00000544413.1_Missense_Mutation_p.R159L|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	159			R -> Q (in MODY3).|R -> W (in MODY3).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R159L(1)|p.R159fs*26(1)|p.R159Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGCAGAAGCGGGCCGCCCTG	0.622000									Hepatic Adenoma, Familial Clustering of				19	38					3.99206e-14	5.72375e-14	0.007413	1	0
EPS15	2060	broad.mit.edu	37	1	51871621	51871621	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:51871621C>A	ENST00000371733.3	-	16	1729	c.1633G>T	c.(1633-1635)Ggc>Tgc	p.G545C	EPS15_ENST00000396122.4_Missense_Mutation_p.G222C|EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Intron	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	545					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)|p.G545C(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTGCTCTGGCCTTCAACATGT	0.463000			T	MLL	ALL								19	109					3.62473e-10	4.89916e-10	0.001882	1	0
DCAF4L1	285429	broad.mit.edu	37	4	41984848	41984848	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:41984848C>T	ENST00000333141.5	+	1	1136	c.1039C>T	c.(1039-1041)Cac>Tac	p.H347Y		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	347								p.H347Y(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CCATGATGCCCACCTGCTCAG	0.632000													10	45					0	0	0.006214	0	0
DNAH1	25981	broad.mit.edu	37	3	52366232	52366232	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:52366232A>G	ENST00000420323.2	+	8	1369	c.1108A>G	c.(1108-1110)Atg>Gtg	p.M370V		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	370	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.M370V(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGACCCTTGCATGTTCGCACA	0.607000													8	11					0	0	0.003080	0	0
ESX1	80712	broad.mit.edu	37	X	103495448	103495448	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:103495448C>A	ENST00000372588.4	-	4	765	c.682G>T	c.(682-684)Gct>Tct	p.A228S		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	228					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A228S(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGATCCAGAGCAGGAGCAGCA	0.542000													41	129					1.57019e-19	2.31707e-19	0.007835	1	0
RGL3	57139	broad.mit.edu	37	19	11505191	11505191	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:11505191G>A	ENST00000380456.3	-	19	2083	c.2020C>T	c.(2020-2022)Ctg>Ttg	p.L674L	RGL3_ENST00000393423.3_Silent_p.L680L|RGL3_ENST00000568628.1_5'UTR	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	674	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		p.L438L(1)|p.L674L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TCAGGAATCAGGAGCACTGGT	0.592000													13	35					0	0	0.004007	0	0
WDFY3	23001	broad.mit.edu	37	4	85656259	85656259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:85656259C>T	ENST00000322366.6	-	43	7337	c.6930G>A	c.(6928-6930)tgG>tgA	p.W2310*	WDFY3_ENST00000295888.4_Nonsense_Mutation_p.W2310*			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2310						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.W2310*(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAGTAAACATCCACTGCGAAA	0.303000													8	26					0	0	0.004482	0	0
SI	6476	broad.mit.edu	37	3	164786959	164786959	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:164786959A>T	ENST00000264382.3	-	4	342	c.280T>A	c.(280-282)Tgc>Agc	p.C94S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	94	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.C94S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGCCTCCAGCAGCAGCCTCTC	0.368000										HNSCC(35;0.089)			4	46					0	0	0.001168	0	0
KLRC1	3821	broad.mit.edu	37	12	10603114	10603114	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:10603114C>T	ENST00000544822.1	-	4	639	c.252G>A	c.(250-252)atG>atA	p.M84I	KLRC1_ENST00000408006.3_Missense_Mutation_p.M84I|KLRC1_ENST00000359151.3_Missense_Mutation_p.M84I|KLRC1_ENST00000347831.5_Missense_Mutation_p.M84I|KLRC1_ENST00000536188.1_Missense_Mutation_p.M84I	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	84					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.M84I(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CCACAGAGGCCATTAAGATAA	0.408000													22	79					0	0	0.003330	0	0
CCHCR1	54535	broad.mit.edu	37	6	31118860	31118860	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:31118860T>A	ENST00000396268.3	-	5	1029	c.841A>T	c.(841-843)Agt>Tgt	p.S281C	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Missense_Mutation_p.S245C|CCHCR1_ENST00000376266.5_Missense_Mutation_p.S192C|CCHCR1_ENST00000396263.2_Missense_Mutation_p.S192C	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	192					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	p.S192C(1)|p.S281C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTGGTCAAACTGGAAAGAGCC	0.592000													40	150					0	0	0.002522	0	0
JARID2	3720	broad.mit.edu	37	6	15501359	15501359	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:15501359G>C	ENST00000341776.2	+	8	2411	c.2167G>C	c.(2167-2169)Gtg>Ctg	p.V723L	JARID2_ENST00000397311.3_Missense_Mutation_p.V551L|JARID2_ENST00000541660.1_Missense_Mutation_p.V685L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	723					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.V723L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGAGAAGGAGGTGCTGATGGA	0.642000													21	100					0	0	0.010504	0	0
KCNT2	343450	broad.mit.edu	37	1	196251442	196251442	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:196251442C>A	ENST00000367433.5	-	23	2771	c.2670G>T	c.(2668-2670)ttG>ttT	p.L890F	KCNT2_ENST00000294725.8_Missense_Mutation_p.L914F|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.L840F			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	914						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.L914F(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGTCCAGTCCCAACAGAAGTC	0.303000													11	62					0.00010058	0.000115368	0.001368	1	0
SDK1	221935	broad.mit.edu	37	7	4152959	4152959	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:4152959C>A	ENST00000404826.2	+	24	3612	c.3473C>A	c.(3472-3474)cCc>cAc	p.P1158H	SDK1_ENST00000389531.3_Missense_Mutation_p.P1158H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1158	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.P1158H(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGCCGAGCCCCTACAGTCCG	0.552000													24	242					1.5548e-18	2.29117e-18	0.005443	1	0
GFRA1	2674	broad.mit.edu	37	10	117884855	117884855	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:117884855C>A	ENST00000439649.3	-	5	999	c.632G>T	c.(631-633)tGc>tTc	p.C211F	GFRA1_ENST00000369236.1_Missense_Mutation_p.C211F|GFRA1_ENST00000544592.1_Missense_Mutation_p.C95F|GFRA1_ENST00000355422.6_Missense_Mutation_p.C216F	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	216					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	p.C211F(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GATGTCCCGGCAGGAGCAGAA	0.587000													4	32					0.00024832	0.000279097	0.009096	1	0
MOV10L1	54456	broad.mit.edu	37	22	50572981	50572981	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:50572981T>G	ENST00000262794.5	+	15	2075	c.1992T>G	c.(1990-1992)atT>atG	p.I664M	MOV10L1_ENST00000540615.1_Missense_Mutation_p.I644M|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.I664M|MOV10L1_ENST00000545383.1_Missense_Mutation_p.I664M	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	664					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.I664M(1)|p.I644M(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AAGAAATTATTTTACAGTCTC	0.378000													16	112					0	0	0.007413	0	0
CPXM1	56265	broad.mit.edu	37	20	2776473	2776473	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:2776473G>T	ENST00000380605.2	-	11	1556	c.1492C>A	c.(1492-1494)Cac>Aac	p.H498N		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	498					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.H498N(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCACCCCCGTGGAGGTTGGCA	0.617000													13	49					0.000308642	0.000345432	0.003163	1	0
GUF1	60558	broad.mit.edu	37	4	44683138	44683138	+	Splice_Site	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:44683138A>T	ENST00000281543.5	+	4	620		c.e4-1		GUF1_ENST00000506793.1_Splice_Site	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)						translation	mitochondrial inner membrane	GTP binding|GTPase activity	p.?(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTGTTTCTCAGGGCCATGTT	0.318000													31	155					0	0	0.007291	0	0
D2HGDH	728294	broad.mit.edu	37	2	242695292	242695292	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:242695292C>A	ENST00000321264.4	+	9	1378	c.1169C>A	c.(1168-1170)aCa>aAa	p.T390K	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.T256K	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	390					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	p.T390K(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GAAAGGATCACAGAGGCGCTG	0.632000													8	90					3.09899e-07	3.87282e-07	0.004482	1	0
ASH1L	55870	broad.mit.edu	37	1	155448134	155448134	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:155448134A>G	ENST00000368346.3	-	3	5166	c.4527T>C	c.(4525-4527)tcT>tcC	p.S1509S	ASH1L_ENST00000392403.3_Silent_p.S1509S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1509					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.S1509S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATTCCAGGACAGATCGGGAAG	0.483000													25	85					0	0	0.004656	0	0
HAS2	3037	broad.mit.edu	37	8	122641191	122641191	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:122641191C>T	ENST00000303924.4	-	2	927	c.390G>A	c.(388-390)atG>atA	p.M130I		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	130						integral to plasma membrane	hyaluronan synthase activity	p.M130I(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGATGTCCATCATGTAAAGGT	0.433000													26	150					0	0	0.003330	0	0
SALL4	57167	broad.mit.edu	37	20	50405400	50405400	+	Splice_Site	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:50405400C>A	ENST00000217086.4	-	3	2853	c.2742_splice	c.e3+1	p.K914_splice	SALL4_ENST00000371539.3_Splice_Site_p.K137_splice|SALL4_ENST00000395997.3_Splice_Site_p.K477_splice	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	914					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K914N(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAACCCACCTTTAAGTTGC	0.517000													12	112					1.49906e-05	1.76722e-05	0.002450	1	0
PTGFR	5737	broad.mit.edu	37	1	78959094	78959094	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:78959094C>A	ENST00000370756.3	+	2	903	c.666C>A	c.(664-666)atC>atA	p.I222I	PTGFR_ENST00000370757.3_Silent_p.I222I|PTGFR_ENST00000370758.1_Silent_p.I222I	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	222					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.I222I(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCAATGCAATCACAGGAATTA	0.383000													9	98					7.48243e-07	9.20981e-07	0.006214	1	0
OR4K1	79544	broad.mit.edu	37	14	20404658	20404658	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:20404658G>T	ENST00000285600.4	+	1	892	c.833G>T	c.(832-834)tGt>tTt	p.C278F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C278F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TACACTGTTTGTACTCCCTTG	0.418000													19	294					5.03518e-11	6.91116e-11	0.007413	1	0
CCDC129	223075	broad.mit.edu	37	7	31683082	31683082	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:31683082C>G	ENST00000319386.3	+	11	2647	c.1654C>G	c.(1654-1656)Cta>Gta	p.L552V	CCDC129_ENST00000451887.2_Missense_Mutation_p.L726V|CCDC129_ENST00000409210.1_Missense_Mutation_p.L608V|CCDC129_ENST00000407970.3_Missense_Mutation_p.L700V			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	700								p.L700V(1)|p.L552V(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAACCTTCCTCTAAATACTGG	0.552000													12	32					0	0	0.001855	0	0
CLUL1	27098	broad.mit.edu	37	18	633349	633349	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr18:633349G>T	ENST00000581619.1	+	6	1830	c.983G>T	c.(982-984)gGa>gTa	p.G328V	CLUL1_ENST00000400606.2_Missense_Mutation_p.G303V|CLUL1_ENST00000579494.1_Missense_Mutation_p.G303V|CLUL1_ENST00000338387.7_Missense_Mutation_p.G303V|CLUL1_ENST00000540035.1_Missense_Mutation_p.G355V			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	303					cell death	extracellular region		p.G303V(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CAGGACAGAGGACTGTGTGGG	0.413000													8	50					1.06961e-07	1.35587e-07	0.003080	1	0
LRP1B	53353	broad.mit.edu	37	2	141115561	141115561	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:141115561T>C	ENST00000389484.3	-	74	12353	c.11382A>G	c.(11380-11382)caA>caG	p.Q3794Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3794	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q3794Q(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCTGCATCCTTGCTCATCTG	0.403000										TSP Lung(27;0.18)			16	88					0	0	0.004007	0	0
PEX5	5830	broad.mit.edu	37	12	7343064	7343064	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:7343064C>A	ENST00000266563.5	+	2	274	c.91C>A	c.(91-93)Cgg>Agg	p.R31R	PEX5_ENST00000545220.1_Intron|PEX5_ENST00000412720.2_Silent_p.R52R|PEX5_ENST00000434354.2_Silent_p.R31R|PEX5_ENST00000266564.3_Silent_p.R31R|PEX5_ENST00000420616.2_Silent_p.R31R|PEX5_ENST00000455147.2_Silent_p.R31R	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	31					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	p.R31R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CAAGGCCCTTCGGCAGGAGGG	0.682000													5	35					1.23904e-05	1.46721e-05	0.000602	1	0
EMILIN1	11117	broad.mit.edu	37	2	27302069	27302069	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:27302069G>T	ENST00000380320.4	+	1	635	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	46					cell adhesion	collagen		p.Q45_A46>HS(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGCCCCAGGCCCAGATTGC	0.687000													7	21					0.00198382	0.00217217	0.001984	1	0
RPE65	6121	broad.mit.edu	37	1	68895585	68895585	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:68895585G>T	ENST00000262340.5	-	14	1529	c.1476C>A	c.(1474-1476)agC>agA	p.S492R		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	492					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.S492R(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTGCTCCTGGGCTCACCACCA	0.423000													5	29					1.23904e-05	1.46721e-05	0.000602	1	0
TRMT10C	54931	broad.mit.edu	37	3	101283965	101283965	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:101283965G>A	ENST00000309922.6	+	2	494	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)									p.E114K(2)									ACACATCACTGAAGAAGAGCT	0.368000													11	74					0	0	0.008291	0	0
LRP1B	53353	broad.mit.edu	37	2	141819801	141819801	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:141819801T>C	ENST00000389484.3	-	8	2026	c.1055A>G	c.(1054-1056)gAg>gGg	p.E352G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	352					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E352G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCACATCTCTCCACTTTGGC	0.443000										TSP Lung(27;0.18)			20	55					0	0	0.007413	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37347280	37347280	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:37347280G>A	ENST00000233057.4	-	13	1392	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S357L|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S316L	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	357	2 X 13 AA approximate repeats.|Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	p.S357L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTTAGTCTTTGACCTGGGTAT	0.269000													7	32					0	0	0.001984	0	0
PARP10	84875	broad.mit.edu	37	8	145058780	145058780	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:145058780C>T	ENST00000313028.7	-	5	1484	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	PARP10_ENST00000524918.1_Missense_Mutation_p.D464N|PARP10_ENST00000525773.1_Missense_Mutation_p.D476N	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	464						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	p.D464N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCAAGAAGGTCCTCATGGTAG	0.607000													9	69					0	0	0.008291	0	0
IL33	90865	broad.mit.edu	37	9	6252893	6252893	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:6252893C>G	ENST00000381434.3	+	4	384	c.371C>G	c.(370-372)gCt>gGt	p.A124G	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	124					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	p.A124G(1)		breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GAGTATCTTGCTTCTCTAAGC	0.318000													5	47					0	0	0.001168	0	0
CADPS	8618	broad.mit.edu	37	3	62423881	62423881	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:62423881G>T	ENST00000383710.4	-	28	4024	c.3675C>A	c.(3673-3675)ccC>ccA	p.P1225P	CADPS_ENST00000357948.3_Silent_p.P1146P|CADPS_ENST00000283269.9_Silent_p.P1186P	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1225	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.P1225P(1)|p.P1186P(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGTCCATCCCGGGTTTCTGTA	0.468000													4	35					2.56e-06	3.11129e-06	0.009096	1	0
DST	667	broad.mit.edu	37	6	56483445	56483445	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:56483445C>T	ENST00000370765.6	-	23	5494	c.5387G>A	c.(5386-5388)tGt>tAt	p.C1796Y	DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1196					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.C1796Y(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTTGTTTCACAAAGCTTAGC	0.383000													33	94					0	0	0.002096	0	0
HRC	3270	broad.mit.edu	37	19	49658175	49658175	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:49658175C>T	ENST00000252825.4	-	1	506	c.320G>A	c.(319-321)aGg>aAg	p.R107K	HRC_ENST00000595625.1_Missense_Mutation_p.R107K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	107	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.R107K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GTCTTGGGACCTGTGGCCTGG	0.567000													15	63					0	0	0.002450	0	0
PTGER3	5733	broad.mit.edu	37	1	71512608	71512608	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:71512608C>A	ENST00000370924.4	-	1	883	c.653G>T	c.(652-654)gGg>gTg	p.G218V	PTGER3_ENST00000354608.5_Missense_Mutation_p.G218V|PTGER3_ENST00000356595.4_Missense_Mutation_p.G218V|PTGER3_ENST00000370932.2_Missense_Mutation_p.G218V|PTGER3_ENST00000460330.1_Missense_Mutation_p.G218V|PTGER3_ENST00000414819.1_Missense_Mutation_p.G218V|PTGER3_ENST00000351052.5_Missense_Mutation_p.G218V|PTGER3_ENST00000306666.5_Missense_Mutation_p.G218V|PTGER3_ENST00000370931.3_Missense_Mutation_p.G218V	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	218					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	p.G218V(5)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	AGAGCTAGTCCCGTTGCCCCC	0.647000													14	87					0.00244969	0.00267675	0.002450	1	0
FOLH1	2346	broad.mit.edu	37	11	49168333	49168333	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:49168333G>A	ENST00000340334.7	-	20	2551	c.2183C>T	c.(2182-2184)gCa>gTa	p.A728V	FOLH1_ENST00000533034.1_Missense_Mutation_p.A697V|FOLH1_ENST00000343844.4_Missense_Mutation_p.A435V|FOLH1_ENST00000356696.3_Missense_Mutation_p.A712V|FOLH1_ENST00000256999.2_Missense_Mutation_p.A743V	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	743					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.A743V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CAAAGTCTCTGCAGCTGCCTG	0.428000													9	102					0	0	0.004482	0	0
SLC22A8	9376	broad.mit.edu	37	11	62762206	62762206	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:62762206A>G	ENST00000336232.2	-	8	1159	c.1024T>C	c.(1024-1026)Tat>Cat	p.Y342H	SLC22A8_ENST00000430500.2_Missense_Mutation_p.Y342H|SLC22A8_ENST00000535878.1_Missense_Mutation_p.Y219H|SLC22A8_ENST00000545207.1_Missense_Mutation_p.Y251H|SLC22A8_ENST00000311438.8_Missense_Mutation_p.Y342H	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	342					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.Y342H(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCCAAACTATAGTAGGCAAAA	0.527000													7	54					0	0	0.004482	0	0
PRODH2	58510	broad.mit.edu	37	19	36291052	36291052	+	Missense_Mutation	SNP	C	C	A	rs146900274		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:36291052C>A	ENST00000301175.3	-	11	1516	c.1499G>T	c.(1498-1500)cGg>cTg	p.R500L		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	500					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	p.R500L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCCCTCCGGATCAGGTA	0.602000													3	9					0.00024832	0.000279097	0.009096	1	0
OR4C3	256144	broad.mit.edu	37	11	48346634	48346634	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:48346634G>T	ENST00000319856.4	+	1	163	c.142G>T	c.(142-144)Gta>Tta	p.V48L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V48L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAACTCAGAGGTACAGAGAGT	0.473000													37	95					6.03168e-27	9.10329e-27	0.004878	1	0
VNN1	8876	broad.mit.edu	37	6	133004445	133004445	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:133004445C>T	ENST00000367928.4	-	7	1389	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	459					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	p.R459H(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ACTAAACAAGCGTCCGTCAGT	0.398000													4	43					0	0	0.001168	0	0
KIAA0196	9897	broad.mit.edu	37	8	126049569	126049569	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:126049569T>C	ENST00000318410.7	-	26	3440	c.3091A>G	c.(3091-3093)Ata>Gta	p.I1031V	KIAA0196_ENST00000517845.1_Missense_Mutation_p.I883V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1031					cell death	WASH complex		p.I1031V(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTTGTTGTTATGTATATCTGG	0.323000													9	62					0	0	0.008291	0	0
ZNF99	7652	broad.mit.edu	37	19	22939341	22939341	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:22939341A>C	ENST00000397104.3	-	7	2829	c.2830T>G	c.(2830-2832)Tac>Gac	p.Y944D						zinc finger protein 99									p.Y944D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCACATTTGTAGGGTTTCTCT	0.383000													16	36					0	0	0.004990	0	0
KLHL38	340359	broad.mit.edu	37	8	124658090	124658090	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:124658090G>A	ENST00000325995.7	-	3	1658	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	545								p.C545C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGGGGTCGTAGCAATCGAAGG	0.617000													12	68					0	0	0.000978	0	0
CUL9	23113	broad.mit.edu	37	6	43167829	43167829	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:43167829G>C	ENST00000252050.4	+	14	3403	c.3319G>C	c.(3319-3321)Gag>Cag	p.E1107Q	CUL9_ENST00000372647.2_Missense_Mutation_p.E1107Q|CUL9_ENST00000354495.3_Missense_Mutation_p.E997Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1107					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.E1107Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCTGGTGACAGAGTGTGAGAA	0.577000													6	41					0	0	0.003080	0	0
UNC45A	55898	broad.mit.edu	37	15	91486151	91486151	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:91486151G>T	ENST00000394275.2	+	11	1656	c.821G>T	c.(820-822)cGg>cTg	p.R274L	UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000418476.2_Missense_Mutation_p.R289L	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	289					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	p.R289L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GATCCTGCCCGGGAGCTGAAG	0.562000													15	123					8.60227e-14	1.22675e-13	0.004007	1	0
HIF3A	64344	broad.mit.edu	37	19	46832652	46832652	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:46832652G>T	ENST00000339613.2	+	12	1716	c.1461G>T	c.(1459-1461)tgG>tgT	p.W487C	HIF3A_ENST00000600383.1_Missense_Mutation_p.W474C|HIF3A_ENST00000420102.2_Missense_Mutation_p.W492C|HIF3A_ENST00000377670.4_Missense_Mutation_p.W543C|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000300862.3_Missense_Mutation_p.W541C|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.W474C			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	543	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.W541C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TACCCCGCTGGGGGAGTGACC	0.687000													4	24					0.00024832	0.000279097	0.009096	1	0
ARFGAP2	84364	broad.mit.edu	37	11	47187910	47187910	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:47187910G>A	ENST00000524782.1	-	15	1682	c.1454C>T	c.(1453-1455)cCt>cTt	p.P485L	ARFGAP2_ENST00000426335.2_Missense_Mutation_p.P349L|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.P216L|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.P378L|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	485	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	p.P485L(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTCCGCTGTAGGCAGCACGTT	0.572000													25	68					0	0	0.003330	0	0
LAMA4	3910	broad.mit.edu	37	6	112466086	112466086	+	Silent	SNP	C	C	A	rs142559688	byFrequency	TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:112466086C>A	ENST00000230538.7	-	19	2800	c.2403G>T	c.(2401-2403)acG>acT	p.T801T	LAMA4_ENST00000522006.1_Silent_p.T794T|LAMA4_ENST00000424408.2_Silent_p.T794T|LAMA4_ENST00000389463.4_Silent_p.T794T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	801	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.T794T(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTGCTCAACCGTACGAAGCT	0.433000													11	43					4.68919e-08	6.00148e-08	0.008291	1	0
PRKRIR	5612	broad.mit.edu	37	11	76062273	76062273	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:76062273C>T	ENST00000260045.3	-	5	2026	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	641					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	p.E641K(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CAATGAAGCTCAGCTGACAGC	0.468000													23	181					0	0	0.002299	0	0
ZFP64	55734	broad.mit.edu	37	20	50769144	50769144	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:50769144C>T	ENST00000216923.4	-	6	1936	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.Q527Q|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Silent_p.Q475Q|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q529Q(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTCTGGGTTCTGGGCCACCA	0.662000													5	32					0	0	0.000602	0	0
FRG1B	284802	broad.mit.edu	37	20	29623187	29623187	+	Translation_Start_Site	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:29623187G>C	ENST00000439954.2	+	3	349	c.3G>C	c.(1-3)atG>atC	p.M1I	FRG1B_ENST00000278882.3_5'UTR|FRG1B_ENST00000358464.4_5'UTR																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CCATTGAAATGGATGAGGGAA	0.373000													10	860					0	0	0.001368	0	0
EGR2	1959	broad.mit.edu	37	10	64573365	64573365	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:64573365C>G	ENST00000242480.3	-	2	1358	c.1033G>C	c.(1033-1035)Gaa>Caa	p.E345Q	EGR2_ENST00000411732.1_Missense_Mutation_p.E295Q|EGR2_ENST00000439032.1_Missense_Mutation_p.E345Q	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	345					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.E345Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCGCAGCCTTCTGCTGGGCAC	0.642000													6	65					0	0	0.003080	0	0
ZYG11B	79699	broad.mit.edu	37	1	53287252	53287252	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:53287252A>G	ENST00000294353.6	+	14	2331	c.2186A>G	c.(2185-2187)cAt>cGt	p.H729R	ZYG11B_ENST00000443756.2_Missense_Mutation_p.H659R	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	729							protein binding	p.H729R(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ATTGTGCGCCATGGGAGGCCA	0.423000													14	34					0	0	0.003163	0	0
CDH4	1002	broad.mit.edu	37	20	60499411	60499411	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:60499411C>A	ENST00000360469.5	+	11	1736	c.1648C>A	c.(1648-1650)Cca>Aca	p.P550T	CDH4_ENST00000543233.1_Missense_Mutation_p.P476T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	550	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding	p.P550T(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTGTCAGACCCAGCGAGCTG	0.627000													8	36					7.48243e-07	9.20981e-07	0.006214	1	0
LRRN2	10446	broad.mit.edu	37	1	204587761	204587761	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:204587761C>T	ENST00000367175.1	-	1	3572	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	LRRN2_ENST00000367177.3_Missense_Mutation_p.E454K|LRRN2_ENST00000367176.3_Missense_Mutation_p.E454K			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	454	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity	p.E454K(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CAGTAGATCTCGGGTTCGGGT	0.647000													4	39					0	0	0.009096	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530456	80530456	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:80530456G>A	ENST00000295057.3	-	2	1145	c.489C>T	c.(487-489)ctC>ctT	p.L163L	CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.L163L|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	163						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.L163L(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCAGCGTGGTGAGCTTCCGCA	0.627000										HNSCC(69;0.2)			11	45					0	0	0.000978	0	0
NDN	4692	broad.mit.edu	37	15	23932040	23932040	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:23932040C>G	ENST00000331837.4	-	1	410	c.325G>C	c.(325-327)Gtg>Ctg	p.V109L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	109	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.V109L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTGACCAGCACGTACCACATG	0.657000									Prader-Willi syndrome				8	72					0	0	0.003080	0	0
SIN3A	25942	broad.mit.edu	37	15	75664471	75664471	+	Missense_Mutation	SNP	C	C	T	rs148486660		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:75664471C>T	ENST00000394947.3	-	21	3985	c.3671G>A	c.(3670-3672)cGt>cAt	p.R1224H	SIN3A_ENST00000360439.4_Missense_Mutation_p.R1224H|SIN3A_ENST00000394949.4_Missense_Mutation_p.R1224H	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	1224					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	p.R1224H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGCCATTTCACGGGGCACATG	0.527000													15	103					0	0	0.002450	0	0
RAD54L	8438	broad.mit.edu	37	1	46739098	46739098	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:46739098C>A	ENST00000371975.4	+	13	2121	c.1447C>A	c.(1447-1449)Cct>Act	p.P483T	RAD54L_ENST00000488942.1_Intron|RAD54L_ENST00000442598.1_Missense_Mutation_p.P483T	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	483					meiosis	nucleus	ATP binding|DNA binding|helicase activity	p.P483T(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCTCTTCCCTCCTGGTTACAG	0.493000								Direct reversal of damage;Homologous recombination					11	134					1.08611e-07	1.3686e-07	0.000978	1	0
PDIA3	2923	broad.mit.edu	37	15	44057715	44057715	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:44057715G>C	ENST00000300289.5	+	6	818	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	PDIA3_ENST00000538521.1_Missense_Mutation_p.E204Q	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	224					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.E224Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGCATATACAGAGCAAAAAAT	0.338000													20	135					0	0	0.010504	0	0
OR4K2	390431	broad.mit.edu	37	14	20344489	20344489	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:20344489G>T	ENST00000298642.2	+	1	99	c.63G>T	c.(61-63)tgG>tgT	p.W21C		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W21*(1)|p.W21C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTAATTCCTGGGAACTACAGA	0.418000													19	516					2.35188e-11	3.25338e-11	0.006122	1	0
ABCC9	10060	broad.mit.edu	37	12	22063216	22063216	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:22063216A>G	ENST00000261200.4	-	8	1194	c.1195T>C	c.(1195-1197)Tct>Cct	p.S399P	ABCC9_ENST00000345162.2_Missense_Mutation_p.S399P|ABCC9_ENST00000261201.4_Missense_Mutation_p.S399P	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	399	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.S399P(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTAGACGTAGAGAGCCTAAGG	0.358000													16	80					0	0	0.003163	0	0
DMBT1	1755	broad.mit.edu	37	10	124377606	124377606	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:124377606C>A	ENST00000338354.3	+	38	4684	c.4578C>A	c.(4576-4578)taC>taA	p.Y1526*	DMBT1_ENST00000368955.3_Nonsense_Mutation_p.Y1516*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.Y898*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.Y377*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.Y898*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.Y1516*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.Y1526*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1526	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.Y1526*(2)|p.Y1655*(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGGTCCTATACCAAGGCTCCT	0.582000													88	336					1.31969e-37	2.00888e-37	0.003610	1	0
MEOX2	4223	broad.mit.edu	37	7	15652021	15652021	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:15652021C>T	ENST00000262041.5	-	3	1315	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	302					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A302A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ATCATAAGTGCGCATGCTCTG	0.478000													7	103					0	0	0.003080	0	0
FAT2	2196	broad.mit.edu	37	5	150922767	150922767	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:150922767C>A	ENST00000261800.5	-	9	7933	c.7921G>T	c.(7921-7923)Ggt>Tgt	p.G2641C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2641	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.G2641C(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGACCACACCAGTGACTGGG	0.483000													31	112					5.91797e-21	8.8064e-21	0.002445	1	0
ZNF236	7776	broad.mit.edu	37	18	74587599	74587599	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr18:74587599C>T	ENST00000253159.8	+	6	1011	c.813C>T	c.(811-813)caC>caT	p.H271H	ZNF236_ENST00000320610.9_Silent_p.H273H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	271					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H271H(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTCAGTCGCACGTGCAGCGAG	0.527000											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	103					0	0	0.004289	0	0
INADL	10207	broad.mit.edu	37	1	62257095	62257095	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:62257095G>T	ENST00000371158.2	+	9	1258	c.1144G>T	c.(1144-1146)Ggc>Tgc	p.G382C	INADL_ENST00000316485.6_Missense_Mutation_p.G382C	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	382	PDZ 3.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.G382F(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TAGAATTGTTGGCTATGTTGG	0.289000													17	62					1.99824e-07	2.5031e-07	0.004990	1	0
MYO7B	4648	broad.mit.edu	37	2	128339977	128339977	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:128339977C>G	ENST00000389524.4	+	12	1352	c.1299C>G	c.(1297-1299)atC>atG	p.I433M	MYO7B_ENST00000409816.2_Missense_Mutation_p.I433M|MYO7B_ENST00000428314.1_Missense_Mutation_p.I433M			Q6PIF6	MYO7B_HUMAN	myosin VIIB	433	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.I433M(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGGGCCATCGGCCTCCTGG	0.502000													4	18					0	0	0.009096	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697556	17697556	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:17697556C>G	ENST00000399080.2	-	1	2150	c.2127G>C	c.(2125-2127)caG>caC	p.Q709H		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	709								p.Q709H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACTCATATTCTGACAAGTAA	0.313000													18	79					0	0	0.008871	0	0
CDH9	1007	broad.mit.edu	37	5	26906090	26906090	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:26906090G>T	ENST00000231021.4	-	5	961	c.789C>A	c.(787-789)aaC>aaA	p.N263K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	263	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N263K(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAGGAGGGTTGTTGTTGACAT	0.443000													74	222					1.25089e-41	1.90689e-41	0.003610	1	0
CLEC9A	283420	broad.mit.edu	37	12	10217378	10217378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:10217378C>A	ENST00000355819.1	+	8	1132	c.519C>A	c.(517-519)taC>taA	p.Y173*		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	173	C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	p.Y173*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GCTATGATTACTGGGTGGGGT	0.438000													31	80					9.65021e-13	1.35614e-12	0.002096	1	0
CD33	945	broad.mit.edu	37	19	51728623	51728623	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:51728623G>A	ENST00000262262.4	+	2	208	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	CD33_ENST00000391796.3_Missense_Mutation_p.E63K|CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	63	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.E63K(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CTGGTTCCGGGAAGGAGCCAT	0.542000													34	121					0	0	0.004878	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963423	73963423	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:73963423G>T	ENST00000373468.1	-	3	1620	c.969C>A	c.(967-969)gaC>gaA	p.D323E	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D323E			Q5QGS0	K2022_HUMAN	KIAA2022	323					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.D323E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAGTAGTCTTGTCTCGAACAT	0.443000													28	62					4.43304e-23	6.64329e-23	0.006320	1	0
MAN2A1	4124	broad.mit.edu	37	5	109183385	109183385	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:109183385G>A	ENST00000261483.4	+	19	3922	c.2870G>A	c.(2869-2871)aGa>aAa	p.R957K		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	957					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.R957K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ATGGATCGAAGACTCATGCAA	0.353000													2	4					0	0	0.004672	0	0
ABCA10	10349	broad.mit.edu	37	17	67197798	67197798	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:67197798G>T	ENST00000269081.4	-	11	1927	c.1018C>A	c.(1018-1020)Cat>Aat	p.H340N	ABCA10_ENST00000432313.2_Missense_Mutation_p.H340N|ABCA10_ENST00000416101.2_Missense_Mutation_p.H340N	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	340					transport	integral to membrane	ATP binding|ATPase activity	p.H340N(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAATCCCCATGGCCATCTTTA	0.308000													13	36					0.00185496	0.00203738	0.001855	1	0
NR2E1	7101	broad.mit.edu	37	6	108497812	108497812	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:108497812C>T	ENST00000368986.4	+	4	1073	c.365C>T	c.(364-366)tCg>tTg	p.S122L	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.S159L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	122					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.S122L(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CACTTTCCCTCGGCGGCGCTC	0.711000													3	26					0	0	0.009096	0	0
MYEF2	50804	broad.mit.edu	37	15	48451078	48451078	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:48451078G>A	ENST00000324324.7	-	7	1038	c.759C>T	c.(757-759)ttC>ttT	p.F253F	MYEF2_ENST00000267836.6_Silent_p.F253F|MYEF2_ENST00000557868.1_5'UTR	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	253	RRM 2.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	p.F253F(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CAGCTATGCTGAACACTTCCT	0.388000													8	70					0	0	0.003080	0	0
DNHD1	144132	broad.mit.edu	37	11	6588995	6588995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:6588995C>T	ENST00000254579.6	+	36	12820	c.12256C>T	c.(12256-12258)Cag>Tag	p.Q4086*	DNHD1_ENST00000527990.2_Nonsense_Mutation_p.Q4086*	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4086					microtubule-based movement	dynein complex	microtubule motor activity	p.Q4086*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGGCTACTCAGCCCATGCT	0.572000													9	57					0	0	0.004482	0	0
SFRP4	6424	broad.mit.edu	37	7	37947142	37947142	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:37947142C>A	ENST00000436072.2	-	6	1357	c.980G>T	c.(979-981)aGt>aTt	p.S327I	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	327					brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.S327I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTTCTTGGGACTGGCTGGTTT	0.502000													11	162					3.07112e-06	3.707e-06	0.000978	1	0
VAV2	7410	broad.mit.edu	37	9	136633700	136633700	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:136633700A>G	ENST00000371851.1	-	27	2748	c.2423T>C	c.(2422-2424)aTc>aCc	p.I808T	VAV2_ENST00000406606.3_Missense_Mutation_p.I779T|VAV2_ENST00000371850.3_Missense_Mutation_p.I818T			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	818					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	p.I779T(1)|p.I818T(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		AGCTGTGCCGATGACGCGGGG	0.622000													4	25					0	0	0.000602	0	0
C17orf104	284071	broad.mit.edu	37	17	42745463	42745463	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:42745463T>C	ENST00000409122.2	+	5	2326	c.2184T>C	c.(2182-2184)gaT>gaC	p.D728D	C17orf104_ENST00000359945.3_Silent_p.D728D|C17orf104_ENST00000409464.1_Silent_p.D562D	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	728								p.D728D(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TGTATGGTGATAATTCTTTTT	0.373000													13	37					0	0	0.001855	0	0
ENPP1	5167	broad.mit.edu	37	6	132168987	132168987	+	Splice_Site	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:132168987A>T	ENST00000360971.2	+	2	332	c.313_splice	c.e2+1	p.E104_splice		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	104	SMB 1.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.E52D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GTGCCAAAGAAGGTAATTAGg	0.388000													4	30					0	0	0.000602	0	0
PLCG2	5336	broad.mit.edu	37	16	81969915	81969915	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:81969915C>T	ENST00000359376.3	+	27	3198	c.2984C>T	c.(2983-2985)tCa>tTa	p.S995L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	995	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.S995L(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTTGACTCTTCAAACTACGAC	0.552000													20	38					0	0	0.002299	0	0
ACTR3B	57180	broad.mit.edu	37	7	152551607	152551607	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:152551607G>T	ENST00000256001.8	+	12	1360	c.1226G>T	c.(1225-1227)cGc>cTc	p.R409L	ACTR3B_ENST00000537264.1_Missense_Mutation_p.R321L|ACTR3B_ENST00000377776.3_Missense_Mutation_p.R339L|ACTR3B_ENST00000397282.2_Missense_Mutation_p.R321L	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	409					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	p.R409L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		AGCATCTGCCGCCACAACCCC	0.547000													9	68					7.48243e-07	9.20981e-07	0.006214	1	0
DNAH11	8701	broad.mit.edu	37	7	21631062	21631062	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:21631062C>A	ENST00000328843.6	+	14	2565	c.2534C>A	c.(2533-2535)gCc>gAc	p.A845D	DNAH11_ENST00000409508.3_Missense_Mutation_p.A845D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	845	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A845D(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGGGCTGGGCCAGGTGCGTG	0.532000									Kartagener syndrome				4	39					0.00024832	0.000279097	0.009096	1	0
RNASET2	8635	broad.mit.edu	37	6	167344531	167344531	+	Splice_Site	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:167344531C>A	ENST00000366855.6	-	9	1129		c.e9+1		RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000508775.1_Splice_Site|RNASET2_ENST00000476238.2_Splice_Site			O00584	RNT2_HUMAN	ribonuclease T2						RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding	p.?(1)		large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		AACTGTCTAACCTGGCTTGGT	0.418000													17	84					4.96729e-08	6.34975e-08	0.008871	1	0
SEMA3A	10371	broad.mit.edu	37	7	83590818	83590818	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:83590818C>A	ENST00000265362.3	-	17	2499	c.2185G>T	c.(2185-2187)Gac>Tac	p.D729Y	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D729Y	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	729	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity	p.D729Y(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGTTTTCGGTCCCTTTTCCAA	0.468000													17	124					9.16793e-09	1.20089e-08	0.004990	1	0
KCNQ4	9132	broad.mit.edu	37	1	41289899	41289899	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:41289899C>T	ENST00000347132.5	+	9	1343	c.1261C>T	c.(1261-1263)Ccg>Tcg	p.P421S	KCNQ4_ENST00000509682.2_Intron|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	421					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		p.P421S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CTGCCACCGGCCGGGCAGCAC	0.697000													3	11					0	0	0.004672	0	0
C4BPB	725	broad.mit.edu	37	1	207271573	207271573	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:207271573C>A	ENST00000243611.5	+	5	876	c.582C>A	c.(580-582)atC>atA	p.I194I	C4BPB_ENST00000391923.1_Silent_p.I194I|C4BPB_ENST00000367076.3_Silent_p.I193I|C4BPB_ENST00000470767.1_3'UTR|C4BPB_ENST00000367078.3_Silent_p.I194I	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	194					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		p.I193I(1)		breast(2)|lung(1)|ovary(1)	4						GCAAGTTGATCCAGGAAGctc	0.517000													9	49					2.17888e-05	2.55164e-05	0.006214	1	0
SAMD7	344658	broad.mit.edu	37	3	169656278	169656278	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:169656278G>A	ENST00000428432.2	+	9	1714	c.1325G>A	c.(1324-1326)gGt>gAt	p.G442D	SAMD7_ENST00000335556.3_Missense_Mutation_p.G442D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	442								p.G442D(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ATTGAGCGAGGTAGTATGAGA	0.413000													4	31					0	0	0.009096	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870085	151870085	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:151870085C>A	ENST00000329342.5	+	3	1000	c.775C>A	c.(775-777)Cgg>Agg	p.R259R		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	259	MAGE.						protein binding	p.R259R(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGAGTACCGGCAGGTCCC	0.522000													61	150					4.13886e-29	6.27333e-29	0.003610	1	0
OR8B12	219858	broad.mit.edu	37	11	124412648	124412648	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:124412648C>T	ENST00000306842.2	-	1	927	c.903G>A	c.(901-903)agG>agA	p.R301R		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R301R(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CCAAAGTTCTCCTCAGGGCAA	0.393000													24	35					0	0	0.003330	0	0
OR10K2	391107	broad.mit.edu	37	1	158390110	158390110	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:158390110G>T	ENST00000314902.2	-	1	546	c.547C>A	c.(547-549)Cct>Act	p.P183T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183N(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTGAGGACAGGAGCAATGTCA	0.443000													10	72					0.00136819	0.0015043	0.001368	1	0
MAP3K19	80122	broad.mit.edu	37	2	135744471	135744471	+	Silent	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:135744471A>T	ENST00000375845.3	-	7	2001	c.1971T>A	c.(1969-1971)gcT>gcA	p.A657A	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Silent_p.A544A|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.A674A|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.A657A(1)|p.A9A(1)									CAGGTCCATTAGCAGTTGAAT	0.398000													17	155					0	0	0.004007	0	0
ARID3B	10620	broad.mit.edu	37	15	74882171	74882171	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:74882171C>T	ENST00000346246.5	+	5	939	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	236	ARID.|Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.I236I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGACCCCCATCAACCGAATCC	0.527000													8	65					0	0	0.004482	0	0
OR5M8	219484	broad.mit.edu	37	11	56258247	56258247	+	Silent	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:56258247A>T	ENST00000327216.2	-	1	624	c.600T>A	c.(598-600)atT>atA	p.I200I		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I200I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGCCAGCCACAATAAACATTG	0.428000													12	60					0	0	0.000978	0	0
OR10C1	442194	broad.mit.edu	37	6	29408588	29408588	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:29408588G>A	ENST00000444197.2	+	1	1506	c.796G>A	c.(796-798)Gat>Aat	p.D266N	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D266N(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCCAGCTACGATCCGGCCAC	0.577000													52	189					0	0	0.003610	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19647584	19647584	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr21:19647584A>T	ENST00000284885.3	-	24	2867	c.2834T>A	c.(2833-2835)aTg>aAg	p.M945K		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	945	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.M945K(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATATTCTGGCATCTGCTGTTG	0.398000													32	105					0	0	0.008361	0	0
IRF8	3394	broad.mit.edu	37	16	85946793	85946793	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:85946793C>T	ENST00000268638.5	+	5	926	c.504C>T	c.(502-504)gcC>gcT	p.A168A		NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	168					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.C169S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CGCCGGAGGCCTGTCGGAGTC	0.607000													22	71					0	0	0.002299	0	0
ESRRG	2104	broad.mit.edu	37	1	216737570	216737570	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:216737570G>T	ENST00000391890.3	-	7	1322	c.805C>A	c.(805-807)Cat>Aat	p.H269N	ESRRG_ENST00000487276.1_Missense_Mutation_p.H262N|ESRRG_ENST00000408911.3_Missense_Mutation_p.H285N|ESRRG_ENST00000493748.1_Missense_Mutation_p.H262N|ESRRG_ENST00000366940.2_Missense_Mutation_p.H262N|ESRRG_ENST00000360012.3_Missense_Mutation_p.H262N|ESRRG_ENST00000361525.3_Missense_Mutation_p.H262N|ESRRG_ENST00000366938.2_Missense_Mutation_p.H262N|ESRRG_ENST00000463665.1_Missense_Mutation_p.H223N|ESRRG_ENST00000366937.1_Missense_Mutation_p.H297N|ESRRG_ENST00000359162.2_Missense_Mutation_p.H262N|ESRRG_ENST00000493603.1_Missense_Mutation_p.H262N|ESRRG_ENST00000361395.2_Missense_Mutation_p.H262N	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	285					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.H285N(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCTGGAATATGCTTCGCCCAT	0.418000													10	50					3.86212e-05	4.49803e-05	0.008291	1	0
EP400	57634	broad.mit.edu	37	12	132514351	132514351	+	Silent	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:132514351G>C	ENST00000333577.4	+	29	5704	c.5595G>C	c.(5593-5595)ctG>ctC	p.L1865L	EP400_ENST00000332482.4_Silent_p.L1792L|EP400_ENST00000389562.2_Silent_p.L1828L|EP400_ENST00000330386.6_Silent_p.L1748L|EP400_ENST00000389561.2_Silent_p.L1829L			Q96L91	EP400_HUMAN	E1A binding protein p400	1865					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.L1828L(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCAGGGCCTGAGAGAGCACG	0.652000													3	42					0	0	0.004672	0	0
TRPM6	140803	broad.mit.edu	37	9	77377872	77377872	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:77377872C>A	ENST00000451710.3	-	26	3952	c.3715G>T	c.(3715-3717)Gcc>Tcc	p.A1239S	TRPM6_ENST00000449912.2_Missense_Mutation_p.A1234S|TRPM6_ENST00000376864.4_Missense_Mutation_p.A1239S|TRPM6_ENST00000360774.1_Missense_Mutation_p.A1239S|TRPM6_ENST00000361255.3_Missense_Mutation_p.A1234S|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1239					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A1239S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTCTCTTGGCCAGGAGAGCC	0.517000													5	87					2.0095e-06	2.45066e-06	0.001984	1	0
ZNF208	7757	broad.mit.edu	37	19	22156888	22156888	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:22156888T>C	ENST00000397126.4	-	4	1096	c.948A>G	c.(946-948)aaA>aaG	p.K316K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.K316K(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGCCACATTCTTTACATTTGT	0.418000													23	57					0	0	0.002780	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769850	31769850	+	Silent	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:31769850G>C	ENST00000240587.4	-	2	1176	c.849C>G	c.(847-849)tcC>tcG	p.S283S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	283					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S100S(1)|p.S283S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGACTCAAAGGAGTGGCCAC	0.522000													33	139					0	0	0.002445	0	0
RYR1	6261	broad.mit.edu	37	19	38990388	38990388	+	Missense_Mutation	SNP	G	G	A	rs148426762	by1000genomes	TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:38990388G>A	ENST00000355481.4	+	44	7272	c.7141G>A	c.(7141-7143)Gaa>Aaa	p.E2381K	RYR1_ENST00000360985.3_Missense_Mutation_p.E2381K|RYR1_ENST00000359596.3_Missense_Mutation_p.E2381K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2381	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E2381K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCTGCCATCGAAGAGGCCAT	0.687000													3	17					0	0	0.004672	0	0
NR5A2	2494	broad.mit.edu	37	1	200008904	200008904	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:200008904G>C	ENST00000367362.3	+	2	429	c.183G>C	c.(181-183)caG>caC	p.Q61H	NR5A2_ENST00000236914.3_Intron	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	61					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.Q61H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AACAGGGCCAGATGCCGGAAA	0.701000													8	39					0	0	0.004482	0	0
ALPPL2	251	broad.mit.edu	37	2	233272331	233272331	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:233272331G>A	ENST00000295453.3	+	4	380	c.328G>A	c.(328-330)Gac>Aac	p.D110N		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	110					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.D110N(1)		breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCATGTGCCAGACAGTGGAGC	0.567000													8	28					0	0	0.004482	0	0
PLEC	5339	broad.mit.edu	37	8	144993348	144993348	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:144993348C>G	ENST00000322810.4	-	32	11221	c.11052G>C	c.(11050-11052)gaG>gaC	p.E3684D	PLEC_ENST00000398774.2_Missense_Mutation_p.E3515D|PLEC_ENST00000356346.3_Missense_Mutation_p.E3533D|PLEC_ENST00000354958.2_Missense_Mutation_p.E3525D|PLEC_ENST00000357649.2_Missense_Mutation_p.E3551D|PLEC_ENST00000354589.3_Missense_Mutation_p.E3547D|PLEC_ENST00000436759.2_Missense_Mutation_p.E3574D|PLEC_ENST00000527096.1_Missense_Mutation_p.E3570D|PLEC_ENST00000345136.3_Missense_Mutation_p.E3547D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3684	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E3547D(1)|p.E3574D(1)|p.E3684D(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCAGCCTTCTCCGCCCCTT	0.622000													26	149					0	0	0.004656	0	0
LAMC1	3915	broad.mit.edu	37	1	183079766	183079766	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:183079766C>A	ENST00000258341.4	+	4	1255	c.998C>A	c.(997-999)gCg>gAg	p.A333E		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	333	Laminin EGF-like 1.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.A333E(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGCAACTGCGGAAAGTGCC	0.478000													28	192					1.88708e-17	2.75785e-17	0.008361	1	0
EEF1A2	1917	broad.mit.edu	37	20	62121997	62121997	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:62121997C>A	ENST00000217182.3	-	6	1029	c.864G>T	c.(862-864)gaG>gaT	p.E288D	EEF1A2_ENST00000298049.7_Missense_Mutation_p.E288D	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	288						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.E288D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTGACTTCACCTCAGTGGTGA	0.632000													9	55					0.00448238	0.00485286	0.004482	1	0
PLIN2	123	broad.mit.edu	37	9	19116393	19116393	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:19116393C>A	ENST00000276914.2	-	8	1346	c.1167G>T	c.(1165-1167)atG>atT	p.M389I	PLIN2_ENST00000411567.1_Missense_Mutation_p.M308I	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	389					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		p.M389I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CAAGATAATCCATCACGTCAT	0.488000													8	66					1.06961e-07	1.35587e-07	0.003080	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18681948	18681948	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:18681948A>G	ENST00000380548.4	+	12	1819	c.1480A>G	c.(1480-1482)Aaa>Gaa	p.K494E	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.K494E|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.K494E	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	494						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.K494E(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCCCTGCTATAAACCCAAAGG	0.448000													11	112					0	0	0.000978	0	0
PSMC6	5706	broad.mit.edu	37	14	53178230	53178230	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:53178230G>T	ENST00000445930.2	+	6	477	c.471G>T	c.(469-471)cgG>cgT	p.R157R	PSMC6_ENST00000606149.1_Silent_p.R143R			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	143					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	p.R157R(1)|p.R143R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					AACAGATCCGGGAATTAAGAG	0.408000													29	112					2.65835e-16	3.85842e-16	0.007291	1	0
CCAR1	55749	broad.mit.edu	37	10	70516155	70516155	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:70516155C>G	ENST00000265872.6	+	14	1870	c.1751C>G	c.(1750-1752)tCa>tGa	p.S584*	CCAR1_ENST00000535016.1_Nonsense_Mutation_p.S569*|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000543719.1_Nonsense_Mutation_p.S569*	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	584					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	p.S584*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CCCACCCGCTCAGAGTGGGAA	0.552000													5	27					0	0	0.000602	0	0
EGFR	1956	broad.mit.edu	37	7	55240712	55240712	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:55240712G>T	ENST00000275493.2	+	17	2133	c.1956G>T	c.(1954-1956)ggG>ggT	p.G652G	EGFR_ENST00000455089.1_Silent_p.G607G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.G599G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	652					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G652G(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGATGGTGGGGGCCCTCCTCT	0.627000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			11	69					0.000219431	0.000249536	0.002450	1	0
SLC39A12	221074	broad.mit.edu	37	10	18242214	18242214	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:18242214C>A	ENST00000377369.2	+	2	282	c.9C>A	c.(7-9)ttC>ttA	p.F3L	SLC39A12_ENST00000377371.3_Missense_Mutation_p.F3L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.F3L|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	3					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.F3L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAATGTGCTTCCGGACAAAGC	0.488000													17	62					3.41278e-10	4.62447e-10	0.004990	1	0
NCKAP5	344148	broad.mit.edu	37	2	133721292	133721292	+	Splice_Site	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:133721292C>A	ENST00000409261.1	-	8	953		c.e8+1		NCKAP5_ENST00000409213.1_Splice_Site|NCKAP5_ENST00000405974.3_Splice_Site|NCKAP5_ENST00000317721.6_Splice_Site	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5								protein binding	p.?(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCATTTCTTACCTCTAGAGCT	0.368000													10	116					9.70103e-10	1.29796e-09	0.008291	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33566428	33566428	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:33566428C>A	ENST00000321505.4	+	2	2178	c.1998C>A	c.(1996-1998)agC>agA	p.S666R	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.S672R|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S672R					KIAA1549-like									p.S666R(1)|p.S672R(1)									GCACCAGCAGCAGCCCTTTGG	0.542000													4	18					0.00909568	0.009748	0.009096	1	0
RAB5C	5878	broad.mit.edu	37	17	40282492	40282492	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:40282492G>A	ENST00000393860.3	-	3	345	c.29C>T	c.(28-30)cCc>cTc	p.P10L	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.P10L|RAB5C_ENST00000547517.1_Missense_Mutation_p.P43L|RAB5C_ENST00000346213.4_Missense_Mutation_p.P10L	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	10					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	p.P10L(1)		large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGGTCCATTGGGTCGTGCTGC	0.597000													11	31					0	0	0.001855	0	0
LRRC45	201255	broad.mit.edu	37	17	79982204	79982204	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:79982204C>T	ENST00000306688.3	+	2	613	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	LRRC45_ENST00000583383.1_Intron	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	91						centrosome		p.L91L(1)		lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCTGCGCTTTCTGGACTTAAA	0.637000													5	63					0	0	0.001168	0	0
CLSTN2	64084	broad.mit.edu	37	3	140122600	140122600	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:140122600C>A	ENST00000458420.3	+	3	552	c.362C>A	c.(361-363)aCa>aAa	p.T121K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	121	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.T121K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAGGAGTACACATTCATCATC	0.582000										HNSCC(16;0.037)			22	101					5.26018e-13	7.42161e-13	0.001882	1	0
REG3G	130120	broad.mit.edu	37	2	79254247	79254247	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:79254247A>T	ENST00000272324.5	+	4	467	c.283A>T	c.(283-285)Att>Ttt	p.I95F	REG3G_ENST00000393897.2_Missense_Mutation_p.I95F|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	95	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.I95F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGTGAGGAGCATTAGTAACAG	0.547000													15	87					0	0	0.006122	0	0
TMEM184A	202915	broad.mit.edu	37	7	1586636	1586636	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:1586636C>G	ENST00000297477.5	-	9	1510	c.1194G>C	c.(1192-1194)aaG>aaC	p.K398N		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	398						integral to membrane		p.K398N(1)		endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGCTCCGGCTCTTCCTGCTCC	0.716000													3	30					0	0	0.001168	0	0
ITGAL	3683	broad.mit.edu	37	16	30516760	30516760	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:30516760G>A	ENST00000356798.6	+	20	2523	c.2343G>A	c.(2341-2343)ttG>ttA	p.L781L	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.L697L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	781					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.L781L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGGCAAACTTGAGAGTGTCCT	0.512000													14	147					0	0	0.002450	0	0
CCDC83	220047	broad.mit.edu	37	11	85630436	85630436	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:85630436G>A	ENST00000280245.4	+	12	1730	c.1218G>A	c.(1216-1218)gtG>gtA	p.V406V	RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000376067.1_Silent_p.V275V|CCDC83_ENST00000342404.3_Silent_p.V375V	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	375								p.V406V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTATGAGTGTGGAGAGCAAGA	0.418000													10	105					0	0	0.008291	0	0
POLR3G	10622	broad.mit.edu	37	5	89781468	89781468	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:89781468T>C	ENST00000399107.1	+	2	284	c.84T>C	c.(82-84)ccT>ccC	p.P28P	POLR3G_ENST00000504930.1_Silent_p.P28P|POLR3G_ENST00000514483.1_Silent_p.P28P	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	28					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity	p.P28P(1)		cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		AAAAGTTACCTGATGTAGTGT	0.358000													11	50					0	0	0.008291	0	0
OR2W5	441932	broad.mit.edu	37	1	247655069	247655069	+	RNA	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:247655069C>T	ENST00000522351.1	+	0	700							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H214Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CGCTCTCCCTCATCCTCATCT	0.567000													17	107					0	0	0.004990	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049419	36049419	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:36049419G>A	ENST00000379919.4	-	1	1413	c.857C>T	c.(856-858)cCc>cTc	p.P286L	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	286					anatomical structure morphogenesis	nucleus		p.P286L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CGACTCTCGGGGATGCTTTTC	0.542000													4	72					0	0	0.009096	0	0
PDIA3	2923	broad.mit.edu	37	15	44058167	44058167	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:44058167G>T	ENST00000300289.5	+	7	950	c.802G>T	c.(802-804)Gac>Tac	p.D268Y	PDIA3_ENST00000538521.1_Missense_Mutation_p.D248Y	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	268					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.D268Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CTATGATGTGGACTATGAAAA	0.363000													10	85					1.76689e-08	2.30871e-08	0.006214	1	0
OR2M3	127062	broad.mit.edu	37	1	248366656	248366656	+	Missense_Mutation	SNP	G	G	T	rs143959338		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:248366656G>T	ENST00000456743.1	+	1	325	c.287G>T	c.(286-288)gGt>gTt	p.G96V		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G96V(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTATGGCTGGTTGTGCCACA	0.498000													135	348					2.06835e-67	3.15758e-67	0.003610	1	0
OR4F15	390649	broad.mit.edu	37	15	102358575	102358575	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:102358575C>A	ENST00000332238.4	+	1	210	c.186C>A	c.(184-186)ctC>ctA	p.L62L		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L62L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGTATTTCCTCCTGGCTAACC	0.423000													27	143					2.12542e-12	2.9711e-12	0.006320	1	0
TTN	7273	broad.mit.edu	37	2	179616095	179616095	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:179616095C>T	ENST00000360870.5	-	46	11254	c.11032G>A	c.(11032-11034)Gaa>Aaa	p.E3678K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9525	Ig-like 22.						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)			GATTTACTTTCTAAATATTCT	0.353000													16	60					0	0	0.003163	0	0
DARC	2532	broad.mit.edu	37	1	159175928	159175928	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:159175928G>C	ENST00000537147.1	+	3	1542	c.699G>C	c.(697-699)aaG>aaC	p.K233N	DARC_ENST00000368121.2_Missense_Mutation_p.K235N|DARC_ENST00000368122.2_Missense_Mutation_p.K233N			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	233					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	p.K235N(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGCTGAAGAAGGCATTGGGTA	0.542000													7	105					0	0	0.001984	0	0
PTPN3	5774	broad.mit.edu	37	9	112153798	112153798	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:112153798T>C	ENST00000412145.1	-	15	4157	c.1604A>G	c.(1603-1605)aAg>aGg	p.K535R	PTPN3_ENST00000374541.2_Missense_Mutation_p.K666R|PTPN3_ENST00000446349.1_Missense_Mutation_p.K490R|PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000262539.3_Missense_Mutation_p.K512R|PTPN3_ENST00000394827.3_Missense_Mutation_p.K134R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	666	PDZ.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	p.K666R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTGAGGCAGCTTTGCAAACGT	0.418000													4	38					0	0	0.000602	0	0
PPID	5481	broad.mit.edu	37	4	159631959	159631959	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:159631959G>A	ENST00000307720.3	-	8	1043	c.936C>T	c.(934-936)cgC>cgT	p.R312R		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	312					protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	p.R312R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		CTTGAGCTCTGCGGTACAATG	0.299000													30	140					0	0	0.003271	0	0
PIGN	23556	broad.mit.edu	37	18	59757723	59757723	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr18:59757723A>T	ENST00000357637.5	-	24	2684	c.2269T>A	c.(2269-2271)Tgc>Agc	p.C757S	PIGN_ENST00000400334.3_Missense_Mutation_p.C757S	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	757					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	p.C757S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TGTTTACAGCAAACACCAGAT	0.338000													9	26					0	0	0.000978	0	0
TCEA3	6920	broad.mit.edu	37	1	23744405	23744405	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:23744405C>T	ENST00000450454.2	-	3	336	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	TCEA3_ENST00000374601.3_Missense_Mutation_p.R77Q|TCEA3_ENST00000461794.1_Missense_Mutation_p.R40Q	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	77	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	p.R77Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		acCTAGCAGCCGCTTCCAGTT	0.527000													11	52					0	0	0.008291	0	0
SEC23IP	11196	broad.mit.edu	37	10	121652418	121652418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:121652418C>T	ENST00000369075.3	+	1	196	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	SEC23IP_ENST00000543134.1_Silent_p.P8P	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	42	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	p.Q42*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CCCAGTCACCCAGGCCTCCGC	0.637000													15	37					0	0	0.002450	0	0
HSPG2	3339	broad.mit.edu	37	1	22174305	22174305	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:22174305G>A	ENST00000374695.3	-	61	7981	c.7902C>T	c.(7900-7902)atC>atT	p.I2634I	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2634	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.I2634I(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AAGACGACTCGATCCTGATCG	0.627000													6	24					0	0	0.001168	0	0
CXorf67	340602	broad.mit.edu	37	X	51150797	51150797	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:51150797C>T	ENST00000342995.2	+	1	1031	c.929C>T	c.(928-930)tCt>tTt	p.S310F						chromosome X open reading frame 67									p.S310F(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GCGCCAGGCTCTGCCCGCCGA	0.731000													3	15					0	0	0.004672	0	0
SSH2	85464	broad.mit.edu	37	17	27959179	27959179	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:27959179C>T	ENST00000269033.3	-	15	3103	c.2952G>A	c.(2950-2952)ctG>ctA	p.L984L	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.L1011L	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	984					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L984L(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGATCCTTCAGGACTCCTT	0.522000													7	76					0	0	0.001984	0	0
RNF180	285671	broad.mit.edu	37	5	63509778	63509778	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:63509778C>G	ENST00000389100.4	+	4	697	c.625C>G	c.(625-627)Ctt>Gtt	p.L209V	RNF180_ENST00000296615.6_Missense_Mutation_p.L209V|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	209						integral to membrane|nuclear envelope	zinc ion binding	p.L209V(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AAAATACCAGCTTTTTGTTCC	0.413000													4	61					0	0	0.009096	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74915580	74915580	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:74915580G>C	ENST00000289575.5	+	14	2480	c.2085G>C	c.(2083-2085)ttG>ttC	p.L695F	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.L579F|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.L468F|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.L468F|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.L673F|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.L551F	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	695					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.L695F(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	AGCAGCAATTGCTAGTGTCGG	0.582000													20	43					0	0	0.001882	0	0
HHLA2	11148	broad.mit.edu	37	3	108095379	108095379	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:108095379C>T	ENST00000357759.5	+	9	1613	c.1199C>T	c.(1198-1200)gCa>gTa	p.A400V	HHLA2_ENST00000491820.1_Missense_Mutation_p.A383V|HHLA2_ENST00000489514.2_Missense_Mutation_p.A400V|HHLA2_ENST00000467761.1_Missense_Mutation_p.A400V|HHLA2_ENST00000467562.1_Missense_Mutation_p.A336V	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	400						integral to membrane		p.A400V(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGTCCCAGTGCACCCGATAAT	0.363000													10	26					0	0	0.001368	0	0
GPR173	54328	broad.mit.edu	37	X	53106887	53106887	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:53106887G>A	ENST00000332582.4	+	2	1575	c.1084G>A	c.(1084-1086)Ggt>Agt	p.G362S		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	362						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G362S(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GGGCACAGGAGGTGCCCCGGC	0.612000													4	31					0	0	0.000602	0	0
GALNT10	55568	broad.mit.edu	37	5	153765889	153765889	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:153765889G>T	ENST00000297107.6	+	7	1092	c.955G>T	c.(955-957)Ggt>Tgt	p.G319C	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.G257C|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.G319C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	319	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.G319C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CGTGATGGCCGGTGGACTGTT	0.567000													36	126					4.07013e-28	6.16035e-28	0.008740	1	0
TMED10	10972	broad.mit.edu	37	14	75643138	75643138	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:75643138G>A	ENST00000303575.4	-	1	196	c.145C>T	c.(145-147)Cac>Tac	p.H49Y		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	49	GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	p.H49Y(1)		endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		AGGTCCTTGTGAATCTCCTCA	0.607000													11	85					0	0	0.000978	0	0
KCND2	3751	broad.mit.edu	37	7	119915238	119915238	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:119915238C>A	ENST00000331113.4	+	1	1517	c.552C>A	c.(550-552)gcC>gcA	p.A184A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	184					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.A184A(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCACGATGGCCCTGGTGTTCT	0.587000													5	47					0.00116845	0.00128735	0.001168	1	0
PKD1L1	168507	broad.mit.edu	37	7	47866971	47866971	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:47866971C>T	ENST00000289672.2	-	45	6881	c.6831G>A	c.(6829-6831)gaG>gaA	p.E2277E		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2277					cell-cell adhesion	integral to membrane		p.E2277E(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTGTGCGACTCTCTCTCCTCA	0.662000													7	49					0	0	0.003080	0	0
FCGR2A	2212	broad.mit.edu	37	1	161475296	161475296	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:161475296C>T	ENST00000271450.6	+	1	77	c.39C>T	c.(37-39)ccC>ccT	p.P13P	FCGR2A_ENST00000367972.4_Silent_p.P13P	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	13						integral to membrane|plasma membrane	IgG binding|receptor activity	p.P13P(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGTATGTCCCAGAAACCTGT	0.478000													27	100					0	0	0.002096	0	0
DUSP26	78986	broad.mit.edu	37	8	33451051	33451051	+	Splice_Site	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:33451051C>G	ENST00000256261.4	-	3	953	c.436_splice	c.e3+1	p.G146_splice	DUSP26_ENST00000523956.1_Splice_Site_p.G146_splice	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	146	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G146R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CCCCTCCTACCTCCTGGCTGG	0.567000													5	20					0	0	0.000602	0	0
AGTR1	185	broad.mit.edu	37	3	148459409	148459409	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:148459409G>T	ENST00000542281.1	+	4	1033	c.587G>T	c.(586-588)gGc>gTc	p.G196V	AGTR1_ENST00000418473.2_Missense_Mutation_p.G196V|AGTR1_ENST00000349243.3_Missense_Mutation_p.G196V|AGTR1_ENST00000402260.1_Missense_Mutation_p.G196V|AGTR1_ENST00000497524.1_Missense_Mutation_p.G196V|AGTR1_ENST00000404754.2_Missense_Mutation_p.G196V|AGTR1_ENST00000474935.1_Missense_Mutation_p.G196V|AGTR1_ENST00000475347.1_Missense_Mutation_p.G196V|AGTR1_ENST00000461609.1_Missense_Mutation_p.G196V	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	196					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.G196V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATAGGGCTGGGCCTGACCAAA	0.378000													14	46					1.15088e-07	1.44849e-07	0.004007	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102506696	102506696	+	Silent	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:102506696G>C	ENST00000360184.4	+	63	11978	c.11814G>C	c.(11812-11814)ctG>ctC	p.L3938L	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3938					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.L3938L(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGTGAGGCTGAGCTGCCTTC	0.547000													3	57					0	0	0.004672	0	0
EYA4	2070	broad.mit.edu	37	6	133783490	133783490	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:133783490T>A	ENST00000367895.5	+	8	919	c.455T>A	c.(454-456)cTt>cAt	p.L152H	EYA4_ENST00000452339.2_Missense_Mutation_p.L98H|EYA4_ENST00000431403.2_Missense_Mutation_p.L152H|EYA4_ENST00000430974.2_Missense_Mutation_p.L98H|EYA4_ENST00000531901.1_Missense_Mutation_p.L152H|EYA4_ENST00000355286.6_Missense_Mutation_p.L129H|EYA4_ENST00000525849.1_Missense_Mutation_p.L129H|EYA4_ENST00000355167.3_Missense_Mutation_p.L152H	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	152			L -> R (in a colorectal cancer sample; somatic mutation).		anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.L152H(2)|p.L152R(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCACACATTCTTTCTACACCA	0.448000													13	135					0	0	0.002450	0	0
SCN1A	6323	broad.mit.edu	37	2	166852589	166852589	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:166852589C>T	ENST00000423058.2	-	24	4532	c.4515G>A	c.(4513-4515)aaG>aaA	p.K1505K	SCN1A_ENST00000409050.1_Silent_p.K1477K|SCN1A_ENST00000303395.4_Silent_p.K1505K|SCN1A_ENST00000375405.3_Silent_p.K1494K|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	1505						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K1494K(1)|p.K1505K(1)		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)	TATAGTATTTCTTCTGTTCTT	0.323000													8	86					0	0	0.004482	0	0
ZNF510	22869	broad.mit.edu	37	9	99521845	99521845	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:99521845G>C	ENST00000375231.1	-	6	1917	c.1267C>G	c.(1267-1269)Cag>Gag	p.Q423E	ZNF510_ENST00000223428.4_Missense_Mutation_p.Q423E			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q423E(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGAGTTCTCTGATGTTGAATG	0.408000													19	100					0	0	0.007413	0	0
RDH11	51109	broad.mit.edu	37	14	68151874	68151874	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:68151874C>G	ENST00000381346.4	-	6	822	c.712G>C	c.(712-714)Gaa>Caa	p.E238Q	RP11-1012A1.4_ENST00000554493.1_5'UTR|RDH11_ENST00000428130.2_Missense_Mutation_p.E168Q|RP11-1012A1.4_ENST00000553306.1_Silent_p.L68L|RDH11_ENST00000553384.1_Missense_Mutation_p.E225Q	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	238					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	p.E238Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CGAACCAGTTCAGATTGGACT	0.517000													6	33					0	0	0.001168	0	0
PPP1R32	220004	broad.mit.edu	37	11	61254429	61254429	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:61254429C>T	ENST00000338608.2	+	10	969	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S	PPP1R32_ENST00000432063.2_Missense_Mutation_p.P262S	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	282								p.P282S(1)									GGTGCCCCCTCCCTGCCCAGA	0.632000													19	177					0	0	0.010504	0	0
BACE2	25825	broad.mit.edu	37	21	42598273	42598273	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr21:42598273C>A	ENST00000330333.6	+	2	856	c.393C>A	c.(391-393)gaC>gaA	p.D131E	BACE2_ENST00000328735.6_Missense_Mutation_p.D131E|BACE2_ENST00000347667.4_Missense_Mutation_p.D131E	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	131					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	p.D131E(1)		endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CGTACTTTGACACAGAGAGGT	0.512000													17	80					3.41278e-10	4.62447e-10	0.004990	1	0
CYSLTR1	10800	broad.mit.edu	37	X	77529230	77529230	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:77529230C>T	ENST00000373304.3	-	3	306	c.14G>A	c.(13-15)gGa>gAa	p.G5E		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	5					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	p.G5E(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TGTCAGATTTCCTGTTTCATC	0.358000													9	58					0	0	0.006214	0	0
RPN1	6184	broad.mit.edu	37	3	128356927	128356927	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:128356927C>T	ENST00000296255.3	-	3	396	c.348G>A	c.(346-348)aaG>aaA	p.K116K	RPN1_ENST00000497289.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	116					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.K116K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		CAACTGGGAGCTTGACTGTGA	0.458000			T	EVI1	AML								16	46					0	0	0.006122	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68956360	68956360	+	Splice_Site	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:68956360C>A	ENST00000356291.2	-	3	223		c.e3-1			NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GACTTATCATCTGAAAGGTAA	0.333000													18	57					1.33834e-09	1.78838e-09	0.007413	1	0
SLC45A2	51151	broad.mit.edu	37	5	33947472	33947472	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:33947472C>G	ENST00000382102.3	-	6	1221	c.1164G>C	c.(1162-1164)caG>caC	p.Q388H	SLC45A2_ENST00000296589.4_Missense_Mutation_p.Q388H|SLC45A2_ENST00000342059.3_Missense_Mutation_p.Q329H	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	388					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.Q388H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CCAAAACTTTCTGAAAGTCTG	0.413000													14	91					0	0	0.001855	0	0
OR4C16	219428	broad.mit.edu	37	11	55339835	55339835	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:55339835A>G	ENST00000314634.3	+	1	232	c.232A>G	c.(232-234)Aga>Gga	p.R78G		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R78G(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CATAACCCCTAGAATGATTGT	0.428000													30	182					0	0	0.008361	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43939499	43939499	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:43939499A>C	ENST00000282406.4	+	15	2547	c.2437A>C	c.(2437-2439)Acc>Ccc	p.T813P		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	813	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding	p.T813P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGCAAACCCACCATGAAGGG	0.488000													10	52					0	0	0.008291	0	0
PEX6	5190	broad.mit.edu	37	6	42934570	42934570	+	Silent	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:42934570G>C	ENST00000304611.8	-	9	1980	c.1911C>G	c.(1909-1911)gcC>gcG	p.A637A	PEX6_ENST00000244546.4_Silent_p.A637A	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	637					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.A637A(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GGGTCAGAAGGGCATAGAGAT	0.577000													18	171					0	0	0.008871	0	0
POTEG	404785	broad.mit.edu	37	14	19553558	19553558	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:19553558G>A	ENST00000409832.3	+	1	194	c.142G>A	c.(142-144)Gac>Aac	p.D48N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	48								p.D48N(2)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACTTCTGGAGACCACGACGA	0.602000													26	681					0	0	0.003755	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346599	89346599	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:89346599C>A	ENST00000301030.4	-	9	6811	c.6351G>T	c.(6349-6351)ccG>ccT	p.P2117P	ANKRD11_ENST00000378330.2_Silent_p.P2117P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2117	Pro-rich.					nucleus		p.P2117P(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCCAGGGCACCGGCTCCACCT	0.692000													6	10					8.12818e-05	9.34345e-05	0.001984	1	0
NAV3	89795	broad.mit.edu	37	12	78400535	78400535	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:78400535G>T	ENST00000397909.2	+	8	1390	c.1217G>T	c.(1216-1218)gGa>gTa	p.G406V	NAV3_ENST00000536525.2_Missense_Mutation_p.G406V|NAV3_ENST00000266692.7_Missense_Mutation_p.G406V|NAV3_ENST00000228327.6_Missense_Mutation_p.G406V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	406						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.G406V(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCAGTTCAGGACCTAGTGAT	0.493000										HNSCC(70;0.22)			21	67					9.95505e-16	1.43901e-15	0.002299	1	0
WDR72	256764	broad.mit.edu	37	15	53997423	53997423	+	Silent	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:53997423T>A	ENST00000396328.1	-	11	1349	c.1110A>T	c.(1108-1110)ccA>ccT	p.P370P	WDR72_ENST00000557913.1_Silent_p.P367P|WDR72_ENST00000360509.5_Silent_p.P370P|WDR72_ENST00000559418.1_Silent_p.P380P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	370								p.P370P(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGGCAGTTACTGGTATCTCTA	0.343000													26	46					0	0	0.004656	0	0
SHANK1	50944	broad.mit.edu	37	19	51217150	51217150	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:51217150G>A	ENST00000293441.1	-	5	715	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	SHANK1_ENST00000391814.1_Silent_p.L233L|SHANK1_ENST00000359082.3_Silent_p.L233L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	233					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.L233L(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCAGGCACAGGGTTCGAATC	0.642000													3	38					0	0	0.004672	0	0
OR6B2	389090	broad.mit.edu	37	2	240969745	240969745	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:240969745G>T	ENST00000402971.2	-	1	161	c.102C>A	c.(100-102)acC>acA	p.T34T		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T34T(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CAAAGAGGTAGGTGAGCAGGA	0.582000													14	113					0.000219431	0.000249536	0.002450	1	0
TNR	7143	broad.mit.edu	37	1	175372608	175372608	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:175372608A>T	ENST00000367674.1	-	4	1352	c.644T>A	c.(643-645)gTg>gAg	p.V215E	TNR_ENST00000263525.2_Missense_Mutation_p.V215E	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	215	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.V215E(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGGCCATCCACACACACCCC	0.627000													11	143					0	0	0.001368	0	0
CCDC39	339829	broad.mit.edu	37	3	180378429	180378429	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:180378429C>T	ENST00000273654.4	-	10	1316	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	CCDC39_ENST00000442201.2_Missense_Mutation_p.E149K			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	149					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.E149K(2)|p.E233K(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGAGCTGATTCTTCTAACCAG	0.373000													6	19					0	0	0.001984	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51281193	51281193	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:51281193A>G	ENST00000398458.3	+	5	976	c.944A>G	c.(943-945)gAg>gGg	p.E315G	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365.1	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	315	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.E315G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TGGCTGACAGAGCATTTCTTC	0.408000													32	149					0	0	0.008361	0	0
RTN1	6252	broad.mit.edu	37	14	60212963	60212963	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:60212963C>A	ENST00000267484.5	-	2	813	c.478G>T	c.(478-480)Ggc>Tgc	p.G160C		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	160					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.G160C(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTAAATAAGCCACGAGACTCT	0.517000													15	74					4.93089e-13	6.97557e-13	0.002450	1	0
SAMM50	25813	broad.mit.edu	37	22	44368860	44368860	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:44368860G>T	ENST00000350028.4	+	6	696	c.539G>T	c.(538-540)cGg>cTg	p.R180L	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_5'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	180					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	p.R180L(1)		endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTCAAACCACGGCCCGGAAAC	0.423000													16	70					2.5808e-16	3.75099e-16	0.006122	1	0
PRAMEF10	343071	broad.mit.edu	37	1	12952861	12952861	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:12952861C>A	ENST00000235347.4	-	4	1390	c.1311G>T	c.(1309-1311)ctG>ctT	p.L437L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	437								p.L437L(1)		NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	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;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)		GTGTACGCATCAGCTCAGCCC	0.542000													23	64					4.02929e-09	5.33717e-09	0.002096	1	0
SLPI	6590	broad.mit.edu	37	20	43883108	43883108	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:43883108G>C	ENST00000338380.2	-	1	97	c.77C>G	c.(76-78)tCt>tGt	p.S26C		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	26	Trypsin inhibitory domain.					extracellular region	serine-type endopeptidase inhibitor activity	p.S26C(1)		lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				ACACTTTCCAGAGCCTTCCAC	0.577000													6	26					0	0	0.001984	0	0
COL11A1	1301	broad.mit.edu	37	1	103352613	103352613	+	Splice_Site	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:103352613C>A	ENST00000358392.2	-	63	4962		c.e63-1		COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.?(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGTGGACCCTGTAAAGAAG	0.348000													12	80					3.27435e-08	4.20083e-08	0.002450	1	0
ZNF536	9745	broad.mit.edu	37	19	31040291	31040291	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:31040291C>A	ENST00000355537.3	+	4	3912	c.3765C>A	c.(3763-3765)ccC>ccA	p.P1255P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P1255P(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCGGGGGCCCCAGAGCCTGG	0.592000													7	27					8.12818e-05	9.34345e-05	0.001984	1	0
ABCA12	26154	broad.mit.edu	37	2	215821468	215821468	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:215821468C>A	ENST00000272895.7	-	42	6371	c.6152G>T	c.(6151-6153)gGt>gTt	p.G2051V	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1733V|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2051					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.G2051V(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CGCAATGATACCAATTGAAAA	0.348000													18	81					9.7654e-05	0.000112133	0.007413	1	0
MROH2B	133558	broad.mit.edu	37	5	40998210	40998210	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:40998210C>T	ENST00000399564.4	-	42	5152	c.4702G>A	c.(4702-4704)Gag>Aag	p.E1568K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E1123K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.E1568K(1)									AAAGCAGCCTCAGCTGCTCTC	0.468000													16	276					0	0	0.004007	0	0
TMEM30A	55754	broad.mit.edu	37	6	75969092	75969092	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:75969092C>A	ENST00000230461.6	-	5	985	c.656G>T	c.(655-657)gGa>gTa	p.G219V	TMEM30A_ENST00000370050.5_Missense_Mutation_p.G100V|TMEM30A_ENST00000475111.2_Missense_Mutation_p.G183V	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	219						integral to membrane		p.G219V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTGTCTCCTCCAGGGGGATT	0.313000													13	123					2.61681e-11	3.61046e-11	0.002450	1	0
SIRPB1	10326	broad.mit.edu	37	20	1546816	1546816	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:1546816C>A	ENST00000381605.4	-	5	1246	c.1182G>T	c.(1180-1182)tgG>tgT	p.W394C	SIRPB1_ENST00000381603.3_Missense_Mutation_p.W177C|SIRPB1_ENST00000262929.5_Missense_Mutation_p.W176C|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	394					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.W394C(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTTCTGTTTCCAGCAGATGT	0.587000													4	23					2.56e-06	3.11129e-06	0.009096	1	0
VRK3	51231	broad.mit.edu	37	19	50504063	50504063	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:50504063T>A	ENST00000599538.1	-	6	1260	c.596A>T	c.(595-597)aAg>aTg	p.K199M	VRK3_ENST00000593919.1_Missense_Mutation_p.K199M|VRK3_ENST00000594092.1_Missense_Mutation_p.K199M|VRK3_ENST00000377011.2_Missense_Mutation_p.K149M|VRK3_ENST00000443401.2_Missense_Mutation_p.S19C|VRK3_ENST00000594948.1_Missense_Mutation_p.K199M|VRK3_ENST00000601341.1_Missense_Mutation_p.K149M|VRK3_ENST00000601912.1_Missense_Mutation_p.K149M|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.K199M			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	199	Protein kinase.					nucleus	ATP binding|protein kinase activity	p.K199M(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GAGTGAGAACTTTTGCTTCTG	0.562000													5	17					0	0	0.001984	0	0
ZNF667	63934	broad.mit.edu	37	19	56973727	56973727	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:56973727G>T	ENST00000591790.1	-	2	1441	c.13C>A	c.(13-15)Cgg>Agg	p.R5R	ZNF667_ENST00000292069.6_Silent_p.R5R|ZNF667_ENST00000504904.3_Silent_p.R5R|ZNF667_ENST00000342634.3_Silent_p.R98R			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R5R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GATTTCCCCCGTGCAGAAGGC	0.542000													28	136					1.62565e-12	2.27548e-12	0.002445	1	0
FAT3	120114	broad.mit.edu	37	11	92531738	92531738	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:92531738G>A	ENST00000298047.6	+	9	5576	c.5559G>A	c.(5557-5559)gtG>gtA	p.V1853V	FAT3_ENST00000525166.1_Silent_p.V1703V|FAT3_ENST00000409404.2_Silent_p.V1853V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1853	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1853V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGTGCATGTGAGAGACAGTG	0.463000										TCGA Ovarian(4;0.039)			4	22					0	0	0.009096	0	0
GLYATL1	92292	broad.mit.edu	37	11	58714572	58714572	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:58714572G>A	ENST00000317391.4	+	4	352	c.12G>A	c.(10-12)ctG>ctA	p.L4L	GLYATL1_ENST00000300079.5_Intron|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	4						mitochondrion	glycine N-acyltransferase activity	p.L4L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGATCCTACTGAATAACTCCC	0.453000													4	50					0	0	0.000602	0	0
RYR1	6261	broad.mit.edu	37	19	39018312	39018312	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:39018312G>T	ENST00000355481.4	+	72	10828	c.10697G>T	c.(10696-10698)tGg>tTg	p.W3566L	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Missense_Mutation_p.W3571L|RYR1_ENST00000359596.3_Missense_Mutation_p.W3571L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3571					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.W3571L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTCTGCGCTGGCAGATGGCT	0.647000													9	34					7.48243e-07	9.20981e-07	0.006214	1	0
GAS7	8522	broad.mit.edu	37	17	9846526	9846526	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:9846526C>T	ENST00000396115.1	-	7	773	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	GAS7_ENST00000540214.1_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.G167S|GAS7_ENST00000542249.1_Missense_Mutation_p.G160S|GAS7_ENST00000580865.1_Missense_Mutation_p.G75S|GAS7_ENST00000585266.1_Missense_Mutation_p.G151S|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000432992.2_Missense_Mutation_p.G215S|GAS7_ENST00000437099.2_Missense_Mutation_p.G151S|GAS7_ENST00000323816.4_Missense_Mutation_p.G151S	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	215					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	p.G215S(1)|p.G75S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCCACGGTGCCGTTGCCTTGG	0.527000			T	MLL	AML*								59	118					0	0	0.003610	0	0
COL6A6	131873	broad.mit.edu	37	3	130284021	130284021	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:130284021C>G	ENST00000358511.6	+	3	876	c.845C>G	c.(844-846)tCa>tGa	p.S282*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.S282*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	282	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen		p.S282*(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGATAAATTCACTGAGCATG	0.438000													36	123					0	0	0.003755	0	0
MFAP1	4236	broad.mit.edu	37	15	44101975	44101975	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:44101975T>C	ENST00000267812.3	-	7	1257	c.1025A>G	c.(1024-1026)tAt>tGt	p.Y342C		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	342						microfibril		p.Y342C(1)		breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		ACCCCGGTGATAATACTTCTG	0.403000													32	146					0	0	0.003271	0	0
HOXB8	3218	broad.mit.edu	37	17	46691845	46691845	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:46691845G>A	ENST00000239144.4	-	1	456	c.222C>T	c.(220-222)tgC>tgT	p.C74C	HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Silent_p.C74C	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	74						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.C74C(1)		large_intestine(1)|lung(8)|urinary_tract(2)	11						ACGCCACGGCGCACGGGTTCT	0.667000													4	37					0	0	0.009096	0	0
KCNMB2	10242	broad.mit.edu	37	3	178560609	178560609	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:178560609C>A	ENST00000432997.1	+	5	944	c.592C>A	c.(592-594)Cat>Aat	p.H198N	RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.H198N|KCNMB2_ENST00000452583.1_Missense_Mutation_p.H198N|KCNMB2_ENST00000358316.3_Missense_Mutation_p.H198N|RP11-385J1.2_ENST00000425330.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	198					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	p.H198N(1)		NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			CGTGCTGTTCCATTCACTCTT	0.458000													21	49					3.62473e-10	4.89916e-10	0.001882	1	0
HSPD1	3329	broad.mit.edu	37	2	198363449	198363449	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:198363449G>T	ENST00000388968.3	-	2	391	c.124C>A	c.(124-126)Caa>Aaa	p.Q42K	HSPD1_ENST00000544407.1_Missense_Mutation_p.Q42K|HSPD1_ENST00000345042.2_Missense_Mutation_p.Q42K	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	42					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	p.Q42K(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCTACACCTTGAAGCATTAAG	0.443000													11	84					1.08611e-07	1.3686e-07	0.000978	1	0
MRPS31	10240	broad.mit.edu	37	13	41345224	41345224	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:41345224G>A	ENST00000323563.6	-	1	85	c.49C>T	c.(49-51)Cac>Tac	p.H17Y		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	17						mitochondrion|ribosome	protein domain specific binding	p.H17Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GACAAAGGGTGGCGGGAAAGG	0.567000													10	48					0	0	0.008291	0	0
PCNX	22990	broad.mit.edu	37	14	71485880	71485880	+	Splice_Site	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:71485880G>T	ENST00000304743.2	+	12	3596		c.e12+1		PCNX_ENST00000439984.3_Splice_Site|PCNX_ENST00000238570.5_Splice_Site	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)							integral to membrane		p.?(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ACTGCTTAAGGTACCAGCATC	0.363000													35	100					1.36161e-19	2.01208e-19	0.004289	1	0
STIP1	10963	broad.mit.edu	37	11	63967652	63967652	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:63967652C>T	ENST00000358794.5	+	10	1826	c.1273C>T	c.(1273-1275)Cag>Tag	p.Q425*	STIP1_ENST00000305218.4_Nonsense_Mutation_p.Q378*|STIP1_ENST00000538945.1_Nonsense_Mutation_p.Q354*			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	378					axon guidance|response to stress	Golgi apparatus|nucleus		p.Q378*(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GGACTATCCCCAGGCCATGAA	0.498000													31	188					0	0	0.008361	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135770132	135770132	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:135770132G>T	ENST00000250617.6	-	11	2409	c.1204C>A	c.(1204-1206)Cag>Aag	p.Q402K	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q248K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q248K|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q275K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	402	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.Q402K(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGAATATCCTGATGATCTGGA	0.378000													28	99					1.55811e-20	2.30888e-20	0.008361	1	0
BAZ2B	29994	broad.mit.edu	37	2	160303412	160303412	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:160303412C>T	ENST00000392783.2	-	6	1072	c.577G>A	c.(577-579)Gct>Act	p.A193T	BAZ2B_ENST00000355831.2_Missense_Mutation_p.A193T|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A191T|BAZ2B_ENST00000392782.1_Missense_Mutation_p.A191T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	193	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.A193T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GAACTTGAAGCAGTAGTGGAT	0.353000													16	118					0	0	0.004007	0	0
IPO8	10526	broad.mit.edu	37	12	30784891	30784891	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:30784891T>A	ENST00000256079.4	-	24	3292	c.2954A>T	c.(2953-2955)gAg>gTg	p.E985V	IPO8_ENST00000544829.1_Missense_Mutation_p.E780V	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	985					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.E985V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTCTGATCCTCGCTGAGTGG	0.567000													8	15					0	0	0.003080	0	0
MROH2B	133558	broad.mit.edu	37	5	40999828	40999828	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:40999828G>C	ENST00000399564.4	-	40	4986	c.4536C>G	c.(4534-4536)ttC>ttG	p.F1512L	MROH2B_ENST00000506092.2_Missense_Mutation_p.F1067L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.F1512L(1)									TGCTGGTGAAGAAGGTGAAGG	0.473000													5	95					0	0	0.003080	0	0
CDH18	1016	broad.mit.edu	37	5	19839061	19839061	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:19839061A>G	ENST00000507958.1	-	5	1025	c.35T>C	c.(34-36)gTc>gCc	p.V12A	CDH18_ENST00000382275.1_Missense_Mutation_p.V12A|CDH18_ENST00000274170.4_Missense_Mutation_p.V12A|CDH18_ENST00000502796.1_Missense_Mutation_p.V12A|CDH18_ENST00000511273.1_Missense_Mutation_p.V12A|CDH18_ENST00000506372.1_Missense_Mutation_p.V12A			Q13634	CAD18_HUMAN	cadherin 18, type 2	12					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V12A(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACACACTAGGACTGGACAGAT	0.428000													24	99					0	0	0.003954	0	0
EVI5	7813	broad.mit.edu	37	1	93170110	93170110	+	Splice_Site	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:93170110A>G	ENST00000370331.1	-	3	481		c.e3+1		EVI5_ENST00000543509.1_Splice_Site|EVI5_ENST00000540033.1_Splice_Site	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5						cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.?(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GAACATGAATACCTTAACTTG	0.363000													16	53					0	0	0.004007	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978229	45978229	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr21:45978229A>T	ENST00000391620.1	-	1	414	c.370T>A	c.(370-372)Tgc>Agc	p.C124S	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	124	18 X 5 AA repeats of C-C-X(3).					keratin filament		p.C124S(1)		kidney(1)|lung(4)|prostate(1)|skin(1)	7						ggcacacagcagatgggcttg	0.652000													56	217					0	0	0.003610	0	0
TIGD3	220359	broad.mit.edu	37	11	65124211	65124211	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:65124211G>T	ENST00000309880.5	+	2	1139	c.932G>T	c.(931-933)cGg>cTg	p.R311L		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	311	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.R311L(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TACCGACACCGGCTGTTGGGC	0.672000													5	28					0.000602214	0.000666962	0.000602	1	0
ANKS1B	56899	broad.mit.edu	37	12	99640284	99640284	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:99640284G>T	ENST00000547776.2	-	13	2114	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K	ANKS1B_ENST00000547010.1_Missense_Mutation_p.N285K|ANKS1B_ENST00000329257.7_Missense_Mutation_p.N705K|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	705						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.N705K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ATCCCCCTGCGTTCATAACCC	0.448000													22	54					5.35356e-11	7.33866e-11	0.002780	1	0
SVEP1	79987	broad.mit.edu	37	9	113275339	113275339	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:113275339G>T	ENST00000401783.2	-	5	1506	c.1170C>A	c.(1168-1170)atC>atA	p.I390I	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.I390I|SVEP1_ENST00000374461.1_Silent_p.I367I|SVEP1_ENST00000374469.1_Silent_p.I367I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	390	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.I390I(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGTGTTTTGGATAAAGTAAC	0.428000													6	49					0.00198382	0.00217217	0.001984	1	0
RPL13AP3	645683	broad.mit.edu	37	14	56233047	56233047	+	RNA	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:56233047G>C	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							ACAGAAACAAGTTGAAGAATC	0.572000													5	23					0	0	0.000602	0	0
OR5H1	26341	broad.mit.edu	37	3	97852089	97852089	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:97852089C>A	ENST00000354565.2	+	1	548	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183Q(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GACACTATCCCATTGTCTAAG	0.323000													6	64					4.36969e-10	5.89103e-10	0.001855	1	0
ATP4A	495	broad.mit.edu	37	19	36046180	36046180	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:36046180C>T	ENST00000262623.3	-	15	2242	c.2214G>A	c.(2212-2214)aaG>aaA	p.K738K		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	738					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.K738K(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGATGTCTGCCTTCTTCAGAG	0.577000													12	50					0	0	0.001368	0	0
OR6B3	150681	broad.mit.edu	37	2	240984557	240984557	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:240984557G>T	ENST00000319423.4	-	1	932	c.933C>A	c.(931-933)gcC>gcA	p.A311A		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A311A(2)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TCCCCTCTACGGCGCAGCTCG	0.473000													42	137					1.03325e-14	1.48547e-14	0.002852	1	0
FCGBP	8857	broad.mit.edu	37	19	40408619	40408619	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:40408619G>A	ENST00000221347.6	-	8	4227	c.4220C>T	c.(4219-4221)tCa>tTa	p.S1407L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1407	VWFD 3.					extracellular region	protein binding	p.S1407L(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTGCCTGTGAGCCATTGGG	0.647000													23	90					0	0	0.002299	0	0
CNTN3	5067	broad.mit.edu	37	3	74548836	74548836	+	Silent	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:74548836T>G	ENST00000263665.6	-	2	183	c.156A>C	c.(154-156)gcA>gcC	p.A52A		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	52	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.A52A(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GATTGCCTCTTGCTTCACAAT	0.343000													22	77					0	0	0.010504	0	0
OR9A4	130075	broad.mit.edu	37	7	141619431	141619431	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:141619431C>A	ENST00000548136.1	+	1	815	c.756C>A	c.(754-756)taC>taA	p.Y252*	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y252*(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGATTGGCTACGGCAGCTGCT	0.498000													17	67					2.48551e-13	3.53501e-13	0.004990	1	0
KRT2	3849	broad.mit.edu	37	12	53040623	53040623	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:53040623G>A	ENST00000309680.3	-	7	1391	c.1370C>T	c.(1369-1371)gCg>gTg	p.A457V		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	457	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.A457V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAGCAGCCGCGCCAAGTCCTC	0.617000													9	145					0	0	0.004482	0	0
UNC50	25972	broad.mit.edu	37	2	99226378	99226378	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:99226378G>A	ENST00000409975.1	+	1	1337	c.207G>A	c.(205-207)caG>caA	p.Q69Q	UNC50_ENST00000409347.1_Silent_p.Q69Q|UNC50_ENST00000357765.2_Silent_p.Q52Q			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	52					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	p.Q52Q(1)		breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTGCCTGGCAGATGCTCTACC	0.493000													14	145					0	0	0.002450	0	0
CD226	10666	broad.mit.edu	37	18	67540474	67540474	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr18:67540474C>G	ENST00000280200.4	-	5	1004	c.736G>C	c.(736-738)Gat>Cat	p.D246H	CD226_ENST00000577287.1_Missense_Mutation_p.D91H|CD226_ENST00000581982.1_Missense_Mutation_p.D91H|CD226_ENST00000582621.1_Missense_Mutation_p.D246H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	246					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.D246H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TATTGGTTATCGGTTTTACCT	0.338000													25	126					0	0	0.005443	0	0
CASS4	57091	broad.mit.edu	37	20	55020975	55020975	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:55020975G>T	ENST00000371336.3	+	3	680	c.479G>T	c.(478-480)aGa>aTa	p.R160I	CASS4_ENST00000360314.3_Missense_Mutation_p.R160I|CASS4_ENST00000434344.1_Missense_Mutation_p.R160I	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	160					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.R160I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACGCTTCCCAGACCTGTCCGG	0.557000													11	26					3.07112e-06	3.707e-06	0.000978	1	0
CSMD3	114788	broad.mit.edu	37	8	113960090	113960090	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:113960090A>G	ENST00000297405.5	-	9	1681	c.1437T>C	c.(1435-1437)atT>atC	p.I479I	CSMD3_ENST00000343508.3_Silent_p.I439I|CSMD3_ENST00000352409.3_Silent_p.I479I|CSMD3_ENST00000455883.2_Silent_p.I375I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	479						integral to membrane|plasma membrane		p.I439I(1)|p.I479I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGCTGTTTTAATACCTCCCT	0.289000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	50					0	0	0.001984	0	0
KLHL41	10324	broad.mit.edu	37	2	170374795	170374795	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:170374795C>T	ENST00000284669.1	+	4	1549	c.1472C>T	c.(1471-1473)gCa>gTa	p.A491V	BBS5_ENST00000554017.1_Missense_Mutation_p.A429V|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.A429V|KLHL41_ENST00000463400.1_3'UTR	NM_006063.2	NP_006054.2			kelch-like family member 41									p.A491V(1)									TTTGGAGTAGCAGTCCATAAA	0.403000													5	54					0	0	0.001984	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744546	37744546	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:37744546G>T	ENST00000539465.1	+	16	3110	c.2517G>T	c.(2515-2517)agG>agT	p.R839S	FRMPD1_ENST00000377765.3_Missense_Mutation_p.R839S|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	839						cytoskeleton|cytosol|plasma membrane		p.R839S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGAAAAGAAGGTCTTTCCTAC	0.552000													4	49					0.00024832	0.000279097	0.009096	1	0
ITGA1	3672	broad.mit.edu	37	5	52211397	52211397	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:52211397G>T	ENST00000282588.6	+	15	2419	c.1961G>T	c.(1960-1962)gGg>gTg	p.G654V		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	654					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.G654V(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTGACTATTGGGGGCCTTGGT	0.463000													21	160					1.96895e-08	2.5664e-08	0.002780	1	0
ARID1B	57492	broad.mit.edu	37	6	157529010	157529010	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:157529010G>C	ENST00000346085.5	+	20	6736	c.6735G>C	c.(6733-6735)caG>caC	p.Q2245H	ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2285H|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2227H|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q2232H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2232					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.Q2227H(1)|p.Q2245H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACTGTTTCAGATTGGGCAGT	0.453000													26	216					0	0	0.006320	0	0
PRDM9	56979	broad.mit.edu	37	5	23527596	23527596	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:23527596G>T	ENST00000296682.3	+	11	2581	c.2399G>T	c.(2398-2400)gGg>gTg	p.G800V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	800					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.G800V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACACAGGGGAGAAGCCC	0.567000										HNSCC(3;0.000094)			45	202					1.62263e-30	2.46296e-30	0.003610	1	0
ASTN1	460	broad.mit.edu	37	1	176915100	176915100	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:176915100C>T	ENST00000367654.2	-	13	2248	c.2235G>A	c.(2233-2235)aaG>aaA	p.K745K	ASTN1_ENST00000367657.3_Silent_p.K737K|ASTN1_ENST00000361833.2_Silent_p.K737K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.K737K			O14525	ASTN1_HUMAN	astrotactin 1	745					cell migration|neuron cell-cell adhesion	integral to membrane		p.K737K(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGCCACTTCCTTGGAATGGT	0.473000													52	178					0	0	0.003610	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709648	128709648	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:128709648G>C	ENST00000392665.2	-	2	635	c.491C>G	c.(490-492)tCc>tGc	p.S164C	KCNJ1_ENST00000440599.2_Missense_Mutation_p.S164C|KCNJ1_ENST00000392666.1_Missense_Mutation_p.S164C|KCNJ1_ENST00000392664.2_Missense_Mutation_p.S183C|KCNJ1_ENST00000324036.3_Missense_Mutation_p.S164C	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	183					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	p.S183C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TTTGGGCCTGGAGATCTTGGC	0.463000													24	94					0	0	0.003954	0	0
IGLON5	402665	broad.mit.edu	37	19	51830402	51830402	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:51830402G>A	ENST00000270642.8	+	6	715	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	239	Ig-like C2-type 3.					extracellular region		p.E239K(1)		large_intestine(5)|lung(6)|prostate(1)	12						CCTGCGCTGCGAAGCCATGGC	0.672000													9	61					0	0	0.004482	0	0
HDAC9	9734	broad.mit.edu	37	7	18705895	18705895	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:18705895G>A	ENST00000406451.3	+	12	1668	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E	HDAC9_ENST00000406072.1_Silent_p.E493E|HDAC9_ENST00000441542.2_Silent_p.E509E|HDAC9_ENST00000432645.2_Silent_p.E506E|HDAC9_ENST00000401921.1_Silent_p.E465E|HDAC9_ENST00000456174.2_Silent_p.E478E|HDAC9_ENST00000428307.2_Silent_p.E462E|HDAC9_ENST00000524023.1_Silent_p.E429E|HDAC9_ENST00000417496.2_Silent_p.E504E|HDAC9_ENST00000405010.3_Silent_p.E506E	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	506					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.E509E(2)|p.E506E(1)|p.E504E(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGAAGCAGAGGAAGAGCTTC	0.512000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	93					0	0	0.002450	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85517991	85517991	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:85517991A>T	ENST00000393217.2	+	17	3762	c.3701A>T	c.(3700-3702)cAt>cTt	p.H1234L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1234								p.H1234L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAGAAAAATCATTTGGCCCCT	0.428000													3	56					0	0	0.004672	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307901	140307901	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:140307901G>T	ENST00000253807.2	+	1	1424	c.1424G>T	c.(1423-1425)gGg>gTg	p.G475V	PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.G475V|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2												p.G475V(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGACCTGGGGAAGAATGGC	0.542000													37	88					6.97489e-18	1.02215e-17	0.004878	1	0
RRP12	23223	broad.mit.edu	37	10	99116936	99116936	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:99116936T>C	ENST00000370992.4	-	34	3920	c.3809A>G	c.(3808-3810)cAg>cGg	p.Q1270R	RRP12_ENST00000414986.1_Missense_Mutation_p.Q1209R|RRP12_ENST00000536831.1_Missense_Mutation_p.Q988R|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.Q1170R	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1270						integral to membrane|nuclear membrane|nucleolus	protein binding	p.Q1270R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GAACTGTCCCTGCAGCTTCAT	0.607000													8	36					0	0	0.003080	0	0
MKS1	54903	broad.mit.edu	37	17	56288035	56288035	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:56288035C>T	ENST00000393119.2	-	11	1083	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	MKS1_ENST00000337050.7_Missense_Mutation_p.E337K|MKS1_ENST00000537529.2_Missense_Mutation_p.E327K|MKS1_ENST00000313863.6_Missense_Mutation_p.E337K|MKS1_ENST00000546108.1_Missense_Mutation_p.E134K	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	337	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	p.E337K(2)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTTGGCAATTCTACAAAGAAG	0.418000													11	68					0	0	0.000978	0	0
MTMR2	8898	broad.mit.edu	37	11	95569395	95569395	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:95569395C>T	ENST00000393223.3	-	16	2133	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	MTMR2_ENST00000352297.7_Missense_Mutation_p.V491I|MTMR2_ENST00000409459.1_Missense_Mutation_p.V491I|MTMR2_ENST00000346299.5_Missense_Mutation_p.V563I	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	563	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V491I(1)|p.V563I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGATAAAGGACATGATTGGAA	0.458000													29	129					0	0	0.006320	0	0
OR4C15	81309	broad.mit.edu	37	11	55322750	55322750	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:55322750T>C	ENST00000314644.2	+	1	968	c.968T>C	c.(967-969)aTg>aCg	p.M323T		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M323T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTGACAAAATGGCGGCAATA	0.388000										HNSCC(20;0.049)			25	153					0	0	0.006320	0	0
MUC5B	727897	broad.mit.edu	37	11	1267369	1267369	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:1267369C>A	ENST00000447027.1	+	31	9326	c.9268C>A	c.(9268-9270)Ccc>Acc	p.P3090T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P3087T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3087	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P3066T(1)|p.P3087T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCACCACACCCATGGCCAC	0.617000													13	93					4.14922e-12	5.76975e-12	0.004007	1	0
CENPE	1062	broad.mit.edu	37	4	104081905	104081905	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:104081905C>G	ENST00000265148.3	-	21	2252	c.2163G>C	c.(2161-2163)aaG>aaC	p.K721N	CENPE_ENST00000380026.3_Missense_Mutation_p.K696N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	721					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.K721N(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATCAGTAATCTTTCCTTCCA	0.308000													13	85					0	0	0.001855	0	0
PCDH20	64881	broad.mit.edu	37	13	61986680	61986680	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:61986680T>G	ENST00000409186.1	-	5	3657	c.1552A>C	c.(1552-1554)Aaa>Caa	p.K518Q	PCDH20_ENST00000409204.4_Missense_Mutation_p.K518Q			Q8N6Y1	PCD20_HUMAN	protocadherin 20	491	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K491Q(1)|p.K518Q(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATGACCCTTTTGACATGAAAT	0.383000													12	156					0	0	0.001855	0	0
NIM1K	167359	broad.mit.edu	37	5	43277259	43277259	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:43277259C>A	ENST00000512796.1	+	3	1892	c.393C>A	c.(391-393)ccC>ccA	p.P131P	NIM1_ENST00000326035.2_Silent_p.P131P			Q8IY84	NIM1_HUMAN		131	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P131P(2)									TGCACCATCCCAACATCATCC	0.502000													29	110					1.80694e-10	2.46423e-10	0.009535	1	0
KLK5	25818	broad.mit.edu	37	19	51451956	51451956	+	Silent	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:51451956C>G	ENST00000336334.3	-	5	1018	c.666G>C	c.(664-666)ccG>ccC	p.P222P	KLK5_ENST00000391809.2_Silent_p.P222P|KLK5_ENST00000593428.1_Silent_p.P222P	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	222	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.P222P(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CTATCTGTCTCGGGTAAGCAT	0.493000													22	59					0	0	0.002780	0	0
NRF1	4899	broad.mit.edu	37	7	129349025	129349025	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:129349025C>T	ENST00000393232.1	+	6	834	c.717C>T	c.(715-717)ccC>ccT	p.P239P	NRF1_ENST00000393230.2_Silent_p.P239P|NRF1_ENST00000311967.2_Silent_p.P239P|NRF1_ENST00000393231.3_Silent_p.P239P|NRF1_ENST00000353868.4_Silent_p.P239P|NRF1_ENST00000223190.4_Silent_p.P239P|NRF1_ENST00000539636.1_Silent_p.P78P	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	239					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.P239P(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AAGATATCCCCTGGGCAAATG	0.517000													31	166					0	0	0.009535	0	0
DOCK9	23348	broad.mit.edu	37	13	99459984	99459984	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:99459984C>G	ENST00000376460.1	-	51	5567	c.5487G>C	c.(5485-5487)caG>caC	p.Q1829H	DOCK9_ENST00000339416.2_Missense_Mutation_p.Q1816H	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1830	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.Q1830H(1)|p.Q1829H(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAAGGAGTCTCTGAGAAATTT	0.378000													10	89					0	0	0.000978	0	0
ZFP82	284406	broad.mit.edu	37	19	36884607	36884607	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:36884607T>C	ENST00000392161.3	-	5	877	c.635A>G	c.(634-636)cAc>cGc	p.H212R	ZFP82_ENST00000392171.1_Missense_Mutation_p.H212R	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H212R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCGAGTAAGGTGTGCAGTCTG	0.423000													20	73					0	0	0.008871	0	0
BUD13	84811	broad.mit.edu	37	11	116633961	116633961	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:116633961G>C	ENST00000260210.4	-	4	367	c.344C>G	c.(343-345)tCa>tGa	p.S115*	BUD13_ENST00000375445.3_Nonsense_Mutation_p.S115*	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	115								p.S115*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATGTCTGTTTGAGGGTAGGTC	0.507000													11	69					0	0	0.000978	0	0
UNC79	57578	broad.mit.edu	37	14	94088960	94088960	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:94088960C>T	ENST00000553484.1	+	31	5601	c.5447C>T	c.(5446-5448)gCa>gTa	p.A1816V	UNC79_ENST00000393151.2_Missense_Mutation_p.A1794V|UNC79_ENST00000555664.1_Missense_Mutation_p.A1794V|UNC79_ENST00000256339.4_Missense_Mutation_p.A1617V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1794						integral to membrane		p.A1816V(1)|p.A1617V(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCCGAAGATGCAGAGAACCCC	0.537000													19	49					0	0	0.006122	0	0
OBSCN	84033	broad.mit.edu	37	1	228559662	228559662	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:228559662C>T	ENST00000570156.2	+	105	24128	c.24054C>T	c.(24052-24054)ttC>ttT	p.F8018F	OBSCN_ENST00000422127.1_Silent_p.F7061F|OBSCN_ENST00000366707.4_Silent_p.F4695F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7061					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.F7773F(1)|p.F7643F(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCTCCTTCCCTCCAGGAT	0.677000													5	47					0	0	0.000602	0	0
CPXM1	56265	broad.mit.edu	37	20	2777180	2777180	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:2777180A>C	ENST00000380605.2	-	8	1102	c.1038T>G	c.(1036-1038)caT>caG	p.H346Q		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	346					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.H346Q(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TACCCAGCTCATGCTCCCCAG	0.607000													14	94					0	0	0.004990	0	0
LILRB1	10859	broad.mit.edu	37	19	55144158	55144158	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:55144158A>C	ENST00000396331.1	+	7	1262	c.905A>C	c.(904-906)aAc>aCc	p.N302T	LILRB1_ENST00000396317.1_Missense_Mutation_p.N302T|LILRB1_ENST00000434867.2_Missense_Mutation_p.N302T|LILRB1_ENST00000427581.2_Missense_Mutation_p.N338T|LILRB1_ENST00000396321.2_Missense_Mutation_p.N302T|LILRB1_ENST00000448689.1_Missense_Mutation_p.N302T|LILRB1_ENST00000396327.3_Missense_Mutation_p.N302T|LILRB1_ENST00000396332.4_Missense_Mutation_p.N302T|LILRB1_ENST00000418536.2_Missense_Mutation_p.N302T|LILRB1_ENST00000324602.7_Missense_Mutation_p.N302T|LILRB1_ENST00000396315.1_Missense_Mutation_p.N302T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	302	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.N302T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGTGCACACAACCTCTCCTCC	0.687000										HNSCC(37;0.09)			17	54					0	0	0.006122	0	0
PREX2	80243	broad.mit.edu	37	8	68939499	68939499	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:68939499T>A	ENST00000288368.4	+	5	761	c.484T>A	c.(484-486)Ttg>Atg	p.L162M	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	162	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.L162M(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGATGTTCCCTTGGAAGGATA	0.358000													9	41					0	0	0.004482	0	0
PIK3R1	5295	broad.mit.edu	37	5	67588928	67588928	+	Splice_Site	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:67588928G>T	ENST00000521381.1	+	9	1635		c.e9-1		PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(5)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTTCATTTCAGGGAAGAAGTG	0.353000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			9	41					1.08611e-07	1.3686e-07	0.000978	1	0
REV3L	5980	broad.mit.edu	37	6	111632432	111632432	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:111632432C>G	ENST00000435970.1	-	31	9217	c.8401G>C	c.(8401-8403)Gaa>Caa	p.E2801Q	RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368802.3_Missense_Mutation_p.E2879Q|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000358835.3_Missense_Mutation_p.E2879Q|REV3L_ENST00000368805.1_Missense_Mutation_p.E2879Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2879					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.E2879Q(1)|p.E2801Q(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTCTCGTTTCAAATAGCAGC	0.338000								DNA polymerases (catalytic subunits)					22	201					0	0	0.001882	0	0
CASC5	57082	broad.mit.edu	37	15	40916208	40916208	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:40916208G>C	ENST00000346991.5	+	11	4214	c.3824G>C	c.(3823-3825)aGt>aCt	p.S1275T	CASC5_ENST00000399668.2_Missense_Mutation_p.S1249T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1275					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.S1275T(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAATTTCATAGTGCTGCTATG	0.383000													18	42					0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9065838	9065838	+	Nonsense_Mutation	SNP	G	G	C	rs142782534	by1000genomes	TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:9065838G>C	ENST00000397910.4	-	3	21811	c.21608C>G	c.(21607-21609)tCa>tGa	p.S7203*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7205	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S7203*(2)|p.S2836*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGTCTCTGAGTCAGCTAA	0.478000													31	151					0	0	0.002445	0	0
TNR	7143	broad.mit.edu	37	1	175292522	175292522	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:175292522C>A	ENST00000367674.1	-	23	4756	c.4048G>T	c.(4048-4050)Ggg>Tgg	p.G1350W	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.G1350W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1350					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.G1350W(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGTTTTCTCCCTGCCATGAGA	0.488000													22	135					3.6726e-16	5.316e-16	0.003954	1	0
POLA1	5422	broad.mit.edu	37	X	24742503	24742503	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:24742503G>T	ENST00000379068.3	+	12	1295	c.1252G>T	c.(1252-1254)Gat>Tat	p.D418Y	POLA1_ENST00000379059.3_Missense_Mutation_p.D412Y			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	412					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	p.D412Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TTCAATGAAGGATGTTTATGA	0.338000													21	49					1.85244e-09	2.46605e-09	0.003330	1	0
RBP3	5949	broad.mit.edu	37	10	48387892	48387892	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:48387892G>T	ENST00000224600.4	-	1	3099	c.2986C>A	c.(2986-2988)Cca>Aca	p.P996T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	996	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.P996T(1)		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)	TTCAGGTGTGGGTCTCCGGAG	0.602000													9	67					1.12685e-05	1.34035e-05	0.004482	1	0
PPIH	10465	broad.mit.edu	37	1	43131649	43131649	+	Splice_Site	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:43131649A>T	ENST00000455203.2	+	5	635		c.e5-1		PPIH_ENST00000372550.1_Splice_Site|PPIH_ENST00000304979.3_Splice_Site			O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)						protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding	p.?(1)		endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	GGTTTCCATCAGGCGAACAGT	0.453000													25	84					0	0	0.002780	0	0
LTBP2	4053	broad.mit.edu	37	14	74989535	74989535	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:74989535T>A	ENST00000261978.4	-	16	3003	c.2617A>T	c.(2617-2619)Agc>Tgc	p.S873C	LTBP2_ENST00000556690.1_Missense_Mutation_p.S873C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	873	Cys-rich.|EGF-like 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.S873C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGCCAGGGCTGCAGACACAT	0.617000													4	21					0	0	0.009096	0	0
KCNN3	3782	broad.mit.edu	37	1	154842045	154842045	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:154842045G>A	ENST00000271915.3	-	1	711	c.396C>T	c.(394-396)ctC>ctT	p.L132L		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	137						integral to membrane	calmodulin binding	p.L132P(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			AGTGGTCATTGAGATTGAGCT	0.662000													4	45					0	0	0.009096	0	0
ITLN2	142683	broad.mit.edu	37	1	160914948	160914948	+	Silent	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:160914948T>C	ENST00000368029.3	-	8	1017	c.960A>G	c.(958-960)gtA>gtG	p.V320V	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	320					signal transduction	extracellular region	receptor binding|sugar binding	p.V320V(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGAACAAGAGTACAGCCGCCT	0.527000													8	46					0	0	0.008291	0	0
CNTN5	53942	broad.mit.edu	37	11	100095501	100095501	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:100095501C>A	ENST00000524871.1	+	16	2252	c.1962C>A	c.(1960-1962)acC>acA	p.T654T	CNTN5_ENST00000524560.1_Intron|CNTN5_ENST00000528682.1_Silent_p.T654T|CNTN5_ENST00000418526.2_Silent_p.T580T|CNTN5_ENST00000527185.1_Silent_p.T654T|CNTN5_ENST00000279463.3_Silent_p.T654T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	654	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.T654T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGGTACAGACCACAGCAGACA	0.453000													23	52					1.85244e-09	2.46605e-09	0.003330	1	0
GPR31	2853	broad.mit.edu	37	6	167570787	167570787	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:167570787T>A	ENST00000366834.1	-	1	1030	c.533A>T	c.(532-534)cAg>cTg	p.Q178L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	178						integral to plasma membrane	G-protein coupled receptor activity	p.Q178L(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GAGTGCTTCCTGCCAGATGAT	0.587000													28	65					0	0	0.009535	0	0
SH2D1A	4068	broad.mit.edu	37	X	123504071	123504071	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:123504071C>G	ENST00000371139.4	+	3	546	c.247C>G	c.(247-249)Ctc>Gtc	p.L83V	SH2D1A_ENST00000360027.4_Missense_Mutation_p.L83V|SH2D1A_ENST00000470647.1_3'UTR|STAG2_ENST00000469481.1_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	83	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	p.L83V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AATAAAAAATCTCATTTCAGC	0.373000													39	100					0	0	0.006230	0	0
GCNT4	51301	broad.mit.edu	37	5	74325326	74325326	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:74325326T>A	ENST00000322348.4	-	1	1398	c.537A>T	c.(535-537)ttA>ttT	p.L179F		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	179					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.L179F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AGCACTTAGCTAAATTGTTCA	0.398000													43	98					0	0	0.007835	0	0
CDR1	1038	broad.mit.edu	37	X	139865924	139865924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:139865924C>T	ENST00000370532.2	-	1	799	c.608G>A	c.(607-609)tGg>tAg	p.W203*		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	203	5 X 6 AA approximate repeats.							p.W203*(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCAGGTCTTCCAGCCAATATA	0.448000													53	144					0	0	0.003610	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579390	44579390	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:44579390C>A	ENST00000289547.4	-	2	661	c.606G>T	c.(604-606)tgG>tgT	p.W202C	NPC1L1_ENST00000546276.1_Missense_Mutation_p.W202C|NPC1L1_ENST00000381160.3_Missense_Mutation_p.W202C|NPC1L1_ENST00000423141.1_Missense_Mutation_p.W202C	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	202					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.W202C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGAAGTTGAGCCAGCGCTGGG	0.637000													19	55					5.03518e-11	6.91116e-11	0.007413	1	0
FOLH1	2346	broad.mit.edu	37	11	49179509	49179509	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:49179509C>A	ENST00000340334.7	-	15	1850	c.1482G>T	c.(1480-1482)atG>atT	p.M494I	FOLH1_ENST00000533034.1_Missense_Mutation_p.M494I|FOLH1_ENST00000343844.4_Missense_Mutation_p.M201I|FOLH1_ENST00000356696.3_Missense_Mutation_p.M509I|FOLH1_ENST00000256999.2_Missense_Mutation_p.M509I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	509	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.M509I(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTTACCTGGGCATGCCACTGA	0.348000													26	68					2.47511e-08	3.22219e-08	0.008361	1	0
TNKS2	80351	broad.mit.edu	37	10	93604783	93604783	+	Missense_Mutation	SNP	G	G	T	rs145701051		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:93604783G>T	ENST00000371627.4	+	17	2546	c.2167G>T	c.(2167-2169)Ggg>Tgg	p.G723W		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	723					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.G723W(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGCATCTTACGGGGTAAGTTC	0.353000													8	24					5.18039e-06	6.19661e-06	0.003080	1	0
THSD7A	221981	broad.mit.edu	37	7	11501711	11501711	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:11501711C>A	ENST00000423059.3	-	10	2679	c.2428G>T	c.(2428-2430)Ggg>Tgg	p.G810W	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	810	TSP type-1 8.					integral to membrane		p.G810W(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTCGGCCCCCGTTGGCTGGC	0.522000										HNSCC(18;0.044)			12	114					1.08611e-07	1.3686e-07	0.000978	1	0
ANKRD33	341405	broad.mit.edu	37	12	52282935	52282935	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:52282935C>A	ENST00000301190.6	+	3	708	c.481C>A	c.(481-483)Cag>Aag	p.Q161K	ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000340970.4_Missense_Mutation_p.Q26K|ANKRD33_ENST00000547119.1_3'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	26								p.Q161K(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGTGAACCAGCAGGACAAAGG	0.617000													10	78					3.86212e-05	4.49803e-05	0.008291	1	0
DPF1	8193	broad.mit.edu	37	19	38709569	38709569	+	Splice_Site	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:38709569A>G	ENST00000416611.1	-	4	553		c.e4+1		DPF1_ENST00000412732.1_Splice_Site|DPF1_ENST00000414789.1_Splice_Site|DPF1_ENST00000355526.4_Splice_Site|DPF1_ENST00000456296.1_Splice_Site|DPF1_ENST00000420980.2_Splice_Site			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1						induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	p.?(2)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGTGGGCCCACCTGACAGTC	0.652000													9	66					0	0	0.006214	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334173	37334173	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:37334173C>A	ENST00000262825.5	+	14	2558	c.2341C>A	c.(2341-2343)Cgg>Agg	p.R781R	CSF2RB_ENST00000536485.1_Silent_p.R722R|CSF2RB_ENST00000406230.1_Silent_p.R781R|CSF2RB_ENST00000403662.3_Silent_p.R775R	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	775					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.R775R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AATTGAGGGCCGGTCCCCCAG	0.642000													9	40					0.00621372	0.0067136	0.006214	1	0
XIRP2	129446	broad.mit.edu	37	2	168105192	168105192	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:168105192C>A	ENST00000409195.1	+	9	7379	c.7290C>A	c.(7288-7290)ccC>ccA	p.P2430P	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.P2430P|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P2208P	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2255					actin cytoskeleton organization	cell junction	actin binding	p.P2430P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAAACTTCCCAAGCATATAA	0.418000													18	140					1.56452e-12	2.19281e-12	0.007413	1	0
MALAT1	378938	broad.mit.edu	37	11	65271399	65271399	+	RNA	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:65271399A>T	ENST00000534336.1	+	0	6167					NR_002819.2																						GATCAGAGTAAAAGGTAATTA	0.338000													4	23					0	0	0.000602	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432666	140432666	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:140432666G>T	ENST00000306549.3	+	1	1688	c.1611G>T	c.(1609-1611)ggG>ggT	p.G537G		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		537	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G537G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACTGATGGGGGCTTCCTGT	0.453000													16	41					2.32078e-09	3.08565e-09	0.003163	1	0
COL19A1	1310	broad.mit.edu	37	6	70859612	70859612	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:70859612C>A	ENST00000322773.4	+	28	2012	c.1910C>A	c.(1909-1911)gCt>gAt	p.A637D	COL19A1_ENST00000393344.1_Missense_Mutation_p.A259D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	637	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.A637D(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CAAGGACCAGCTGGAGAGCCA	0.388000													12	21					4.36969e-10	5.89103e-10	0.001855	1	0
HUWE1	10075	broad.mit.edu	37	X	53634608	53634608	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chrX:53634608T>A	ENST00000342160.3	-	24	2829	c.2372A>T	c.(2371-2373)cAg>cTg	p.Q791L	HUWE1_ENST00000218328.8_Missense_Mutation_p.Q791L|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q791L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	791					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.Q791L(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CACAAATTCCTGGCAGTGGTC	0.413000													8	19					0	0	0.003080	0	0
MC5R	4161	broad.mit.edu	37	18	13825904	13825904	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr18:13825904G>T	ENST00000324750.3	+	1	362	c.140G>T	c.(139-141)gGt>gTt	p.G47V		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	47					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.G47V(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CTCACTCTGGGTGTCATCAGC	0.502000													11	29					0.000673444	0.000745072	0.008291	1	0
ITSN1	6453	broad.mit.edu	37	21	35255959	35255959	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr21:35255959G>A	ENST00000381318.3	+	36	4948	c.4660G>A	c.(4660-4662)Gaa>Aaa	p.E1554K	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1493K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1549K|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1554K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1554	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.E1554K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCTCCGAGCAGAAAGCATAAA	0.542000													10	109					0	0	0.008291	0	0
UTP14C	9724	broad.mit.edu	37	13	52604958	52604958	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:52604958A>T	ENST00000521776.2	+	2	2751	c.2018A>T	c.(2017-2019)aAc>aTc	p.N673I		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	673					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		p.N673I(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GAGAAGCGCAACATCCACGCA	0.473000													86	237					0	0	0.003610	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727617	20727617	+	Silent	SNP	C	C	A	rs143567096	by1000genomes	TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:20727617C>A	ENST00000427401.4	-	4	1486	c.1392G>T	c.(1390-1392)tcG>tcT	p.S464S		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	464					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S463S(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GGTGTGAGGACGAGTTGAAGG	0.418000													5	25					2.7689e-08	3.57396e-08	0.001984	1	0
TYRO3	7301	broad.mit.edu	37	15	41860509	41860509	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:41860509A>T	ENST00000263798.3	+	8	1280	c.1056A>T	c.(1054-1056)gaA>gaT	p.E352D	TYRO3_ENST00000559066.1_Missense_Mutation_p.E307D	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	352	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E344D(1)|p.E352D(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCCCTTTGGAAGGCCCCCTGG	0.582000													4	53					0	0	0.009096	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133227	119133227	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:119133227C>A	ENST00000264245.4	+	12	2983	c.2451C>A	c.(2449-2451)ctC>ctA	p.L817L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	817					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.L817L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGACAGATCTCTACATAGACC	0.527000													4	51					0.00909568	0.009748	0.009096	1	0
TRIM16	10626	broad.mit.edu	37	17	15554713	15554713	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:15554713C>T	ENST00000455584.2	-	1	254	c.211G>A	c.(211-213)Gag>Aag	p.E71K	TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000578237.1_Missense_Mutation_p.E71K|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.E71K														p.E71K(1)									TCTTTCCCCTCACCAGCAGGA	0.562000													42	119					0	0	0.006999	0	0
OR2F1	26211	broad.mit.edu	37	7	143657162	143657162	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:143657162C>A	ENST00000392899.1	+	1	136	c.99C>A	c.(97-99)gtC>gtA	p.V33V		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGTTCTTGGTCATGTATGTGG	0.502000													25	217					2.21704e-12	3.0951e-12	0.002780	1	0
RGR	5995	broad.mit.edu	37	10	86018323	86018323	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:86018323C>A	ENST00000359452.4	+	7	854	c.816C>A	c.(814-816)ggC>ggA	p.G272G	RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_Silent_p.G230G	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	268					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	p.G272G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						ATGCCCTGGGCAATGAGATGG	0.567000													12	65					6.40141e-05	7.42284e-05	0.000978	1	0
OR5J2	282775	broad.mit.edu	37	11	55944406	55944406	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:55944406G>A	ENST00000312298.1	+	1	313	c.313G>A	c.(313-315)Gga>Aga	p.G105R		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G105R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTTGTGTTTCGGAGTGTTCAT	0.468000													11	100					0	0	0.001368	0	0
UBE3D	90025	broad.mit.edu	37	6	83733741	83733741	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:83733741A>T	ENST00000369747.3	-	6	806	c.684T>A	c.(682-684)taT>taA	p.Y228*		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	228						cytoplasm	ligase activity	p.Y228*(1)									TCTCTGTCATATAAAACTTGG	0.289000													10	36					0	0	0.001855	0	0
SOS2	6655	broad.mit.edu	37	14	50626680	50626680	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:50626680C>T	ENST00000216373.5	-	10	1595	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	SOS2_ENST00000543680.1_Missense_Mutation_p.E408K|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	441					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.E441K(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATAATGAATTCATTACAACAC	0.363000													12	153					0	0	0.001855	0	0
CD163L1	283316	broad.mit.edu	37	12	7522232	7522232	+	Nonsense_Mutation	SNP	C	C	A	rs138733121	byFrequency	TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:7522232C>A	ENST00000313599.3	-	15	3817	c.3760G>T	c.(3760-3762)Gag>Tag	p.E1254*	CD163L1_ENST00000416109.2_Nonsense_Mutation_p.E1264*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.E1254*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1254	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.E1254*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCAGAGCACTCGGTGTCTCCT	0.547000													29	56					0.00127121	0.00139912	0.007291	1	0
OR10X1	128367	broad.mit.edu	37	1	158549292	158549292	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:158549292A>G	ENST00000368150.1	-	1	397	c.398T>C	c.(397-399)tTg>tCg	p.L133S		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L133S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATATCCCATCAAAGTGAGAAT	0.463000													21	97					0	0	0.008871	0	0
HOXB6	3216	broad.mit.edu	37	17	46673820	46673820	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:46673820C>A	ENST00000484302.2	-	3	1252	c.630G>T	c.(628-630)gcG>gcT	p.A210A	HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB6_ENST00000225648.3_Silent_p.A210A|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA			P17509	HXB6_HUMAN	homeobox B6	210					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A210A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGAGCTGAGACGCGCTGAGCA	0.597000													26	230					4.59853e-10	6.19167e-10	0.005443	1	0
UBE3A	7337	broad.mit.edu	37	15	25599515	25599515	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:25599515T>C	ENST00000232165.3	-	11	2995	c.2339A>G	c.(2338-2340)gAc>gGc	p.D780G	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.D760G|UBE3A_ENST00000397954.2_Missense_Mutation_p.D783G|UBE3A_ENST00000428984.2_Missense_Mutation_p.D760G|UBE3A_ENST00000438097.1_Missense_Mutation_p.D760G	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	783	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.D783G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CAGAACAGAGTCCCTGGTATA	0.378000													10	61					0	0	0.008291	0	0
POM121L12	285877	broad.mit.edu	37	7	53103859	53103859	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:53103859C>T	ENST00000408890.4	+	1	511	c.495C>T	c.(493-495)gcC>gcT	p.A165A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	165								p.A165A(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						gccgccccgccgcccAGGAGC	0.726000													7	19					0	0	0.001984	0	0
MYBPC3	4607	broad.mit.edu	37	11	47363610	47363610	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:47363610C>T	ENST00000399249.2	-	17	1776	c.1722G>A	c.(1720-1722)cgG>cgA	p.R574R	MYBPC3_ENST00000256993.4_Silent_p.R573R|MYBPC3_ENST00000545968.1_Silent_p.R574R			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	573	Ig-like C2-type 4.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.R574R(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCCACACACCCCGAACATTCT	0.577000													7	14					0	0	0.003080	0	0
PREX2	80243	broad.mit.edu	37	8	68968154	68968154	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:68968154C>A	ENST00000288368.4	+	10	1460	c.1183C>A	c.(1183-1185)Ctg>Atg	p.L395M	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	395	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.L395M(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACAAGGAAATCTGATCAAAGA	0.383000													8	78					0.000274275	0.000307292	0.004482	1	0
LRRN2	10446	broad.mit.edu	37	1	204587561	204587561	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:204587561C>G	ENST00000367175.1	-	1	3772	c.1560G>C	c.(1558-1560)caG>caC	p.Q520H	LRRN2_ENST00000367177.3_Missense_Mutation_p.Q520H|LRRN2_ENST00000367176.3_Missense_Mutation_p.Q520H			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	520					cell adhesion	integral to membrane	receptor activity	p.Q520H(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCCTGCCTGGCTGGAGGAGAG	0.612000													7	28					0	0	0.001984	0	0
OR4A5	81318	broad.mit.edu	37	11	51411646	51411646	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:51411646G>T	ENST00000319760.6	-	1	802	c.750C>A	c.(748-750)ccC>ccA	p.P250P		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P250Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAAAATACAGGGTACAAAAA	0.393000													6	79					5.9392e-07	7.37017e-07	0.001168	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102312206	102312206	+	RNA	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:102312206C>G	ENST00000561463.1	+	0	13574																											GCTCCTGGACCAGGCTCATCA	0.627000													5	37					0	0	0.000602	0	0
HCN4	10021	broad.mit.edu	37	15	73617522	73617522	+	Silent	SNP	A	A	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:73617522A>G	ENST00000261917.3	-	6	2745	c.1752T>C	c.(1750-1752)ttT>ttC	p.F584F		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	584					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.F584F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TCCGACAGTTAAAGTTGATGA	0.617000													23	79					0	0	0.003954	0	0
U2AF1	7307	broad.mit.edu	37	21	44521481	44521481	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr21:44521481G>A	ENST00000380276.2	-	3	264	c.194C>T	c.(193-195)tCa>tTa	p.S65L	U2AF1_ENST00000459639.1_Intron|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_Intron|U2AF1_ENST00000291552.4_Intron	NM_001025203.1	NP_001020374.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	65	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S65L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						CTTACAGTGTGAGCCGTCAGC	0.413000			Mis		"""CLL, MDS"""								113	399					0	0	0.003610	0	0
HRH2	3274	broad.mit.edu	37	5	175110494	175110494	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:175110494T>A	ENST00000231683.2	+	1	2031	c.258T>A	c.(256-258)ttT>ttA	p.F86L	HRH2_ENST00000377291.2_Missense_Mutation_p.F86L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	86					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	p.F86L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	AGTGGAGCTTTGGCAAGGTCT	0.542000													15	54					0	0	0.004990	0	0
KCNN3	3782	broad.mit.edu	37	1	154687378	154687378	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:154687378C>A	ENST00000271915.3	-	6	2118	c.1803G>T	c.(1801-1803)caG>caT	p.Q601H	KCNN3_ENST00000361147.4_Missense_Mutation_p.Q296H|KCNN3_ENST00000358505.2_Missense_Mutation_p.Q288H	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	606	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding	p.Q601H(1)|p.Q296H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGAACTTCCTCTGGTGTTTCC	0.483000													27	144					1.26454e-06	1.55287e-06	0.005443	1	0
PLEKHF2	79666	broad.mit.edu	37	8	96166319	96166319	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:96166319G>A	ENST00000315367.3	+	2	288	c.47G>A	c.(46-48)aGt>aAt	p.S16N	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.S16N	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	16						transport vesicle	metal ion binding|protein binding	p.S16N(1)		breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					AGACGTATAAGTATAGTGGAA	0.353000													6	70					0	0	0.001168	0	0
PDS5B	23047	broad.mit.edu	37	13	33271019	33271019	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:33271019C>T	ENST00000315596.10	+	15	1766	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	527					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.S527L(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GCCATATTTTCAAAAGTGATG	0.254000													16	105					0	0	0.010504	0	0
ADCY8	114	broad.mit.edu	37	8	131861864	131861864	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:131861864C>A	ENST00000286355.5	-	10	4488	c.2396G>T	c.(2395-2397)gGt>gTt	p.G799V	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	799					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	p.G799F(1)		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)			TAAGATGGCACCCAGGAAATT	0.458000										HNSCC(32;0.087)			7	22					8.12818e-05	9.34345e-05	0.001984	1	0
SUPT6H	6830	broad.mit.edu	37	17	27011621	27011621	+	Silent	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:27011621C>G	ENST00000314616.6	+	18	2530	c.2247C>G	c.(2245-2247)ctC>ctG	p.L749L	SUPT6H_ENST00000347486.4_Silent_p.L749L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	749					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	p.L749L(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTCGAAAGCTCTACAATTGGT	0.488000													8	77					0	0	0.003080	0	0
UNC79	57578	broad.mit.edu	37	14	94004362	94004362	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:94004362G>A	ENST00000553484.1	+	12	1304	c.1150G>A	c.(1150-1152)Gtt>Att	p.V384I	UNC79_ENST00000393151.2_Missense_Mutation_p.V384I|UNC79_ENST00000555664.1_Missense_Mutation_p.V384I|UNC79_ENST00000256339.4_Missense_Mutation_p.V207I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	384						integral to membrane		p.V207I(1)|p.V384I(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAGAAGAGCAGTTGTCACCTG	0.458000													6	50					0	0	0.001984	0	0
NDFIP2	54602	broad.mit.edu	37	13	80117712	80117712	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr13:80117712G>T	ENST00000218652.7	+	5	787	c.735G>T	c.(733-735)tgG>tgT	p.W245C		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	245					negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding	p.W245C(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		TTTTCAACTGGCTTGGATTTT	0.348000													37	129					6.03168e-27	9.10329e-27	0.004878	1	0
TTC18	118491	broad.mit.edu	37	10	75107969	75107969	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:75107969A>T	ENST00000310715.3	-	5	494	c.374T>A	c.(373-375)gTt>gAt	p.V125D	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.V125D|TTC18_ENST00000340329.3_Missense_Mutation_p.V125D|TTC18_ENST00000401621.2_Missense_Mutation_p.V125D|TTC18_ENST00000355577.3_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	125							binding	p.V125D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GTGCAATGGAACTGTTGTTTG	0.443000													4	42					0	0	0.001168	0	0
DAB1	1600	broad.mit.edu	37	1	57499077	57499077	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:57499077C>G	ENST00000420954.2	-	8	734	c.699G>C	c.(697-699)gaG>gaC	p.E233D	DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371236.2_Intron|DAB1_ENST00000439789.2_Missense_Mutation_p.E149D|DAB1_ENST00000371231.1_Missense_Mutation_p.E268D|DAB1_ENST00000485760.1_Intron|DAB1_ENST00000371234.4_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	268					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCTCAAAAATCTCATCAAAGT	0.403000													14	120					0	0	0.007413	0	0
CDH11	1009	broad.mit.edu	37	16	65016163	65016163	+	Silent	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:65016163T>A	ENST00000394156.3	-	8	1494	c.1041A>T	c.(1039-1041)gtA>gtT	p.V347V	CDH11_ENST00000566827.1_Silent_p.V221V|CDH11_ENST00000268603.4_Silent_p.V347V			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	347	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.V347V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGGCTGCCTCTACCTTCAAGC	0.448000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			8	49					0	0	0.004482	0	0
POLR3C	10623	broad.mit.edu	37	1	145594089	145594089	+	Silent	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:145594089G>T	ENST00000334163.3	-	14	1633	c.1473C>A	c.(1471-1473)atC>atA	p.I491I	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	491					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.I491I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CAGGAGCTGTGATCATCTCCT	0.438000													36	184					3.33393e-15	4.80612e-15	0.004878	1	0
NTRK1	4914	broad.mit.edu	37	1	156846215	156846215	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:156846215T>A	ENST00000368196.3	+	13	1758	c.1638T>A	c.(1636-1638)agT>agA	p.S546R	NTRK1_ENST00000524377.1_Missense_Mutation_p.S552R|NTRK1_ENST00000358660.3_Missense_Mutation_p.S549R|NTRK1_ENST00000392302.2_Missense_Mutation_p.S516R	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	552	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.S552R(1)|p.S516R(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CGTCCGAGAGTGCTCGGCAGG	0.677000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			9	43					0	0	0.000978	0	0
ADCY1	107	broad.mit.edu	37	7	45743081	45743081	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:45743081C>T	ENST00000297323.7	+	15	2583	c.2561C>T	c.(2560-2562)cCt>cTt	p.P854L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	854					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.P854L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ATGTCCAACCCTCGGAACATG	0.632000													5	29					0	0	0.000602	0	0
OR5L2	26338	broad.mit.edu	37	11	55595315	55595315	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:55595315G>T	ENST00000378397.1	+	1	621	c.621G>T	c.(619-621)gaG>gaT	p.E207D		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E207D(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTTTGAATGAGAGTGTTACCA	0.473000										HNSCC(27;0.073)			13	118					4.7546e-09	6.25885e-09	0.004007	1	0
NOX4	50507	broad.mit.edu	37	11	89075295	89075295	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:89075295G>C	ENST00000535633.1	-	14	1522	c.1212C>G	c.(1210-1212)tgC>tgG	p.C404W	NOX4_ENST00000343727.5_Missense_Mutation_p.C404W|NOX4_ENST00000527626.1_Missense_Mutation_p.C262W|NOX4_ENST00000534731.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.C449W|NOX4_ENST00000528341.1_Missense_Mutation_p.C403W|NOX4_ENST00000375979.3_Missense_Mutation_p.C121W|NOX4_ENST00000527956.1_Missense_Mutation_p.C404W|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000263317.4_Missense_Mutation_p.C428W|NOX4_ENST00000542487.1_Missense_Mutation_p.C404W|NOX4_ENST00000532825.1_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.C404W	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	428	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.C428W(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTCCAGCCACGCAGAGGCTGA	0.408000													8	68					0	0	0.004482	0	0
LTBP2	4053	broad.mit.edu	37	14	75070356	75070356	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:75070356T>C	ENST00000261978.4	-	2	933	c.547A>G	c.(547-549)Acc>Gcc	p.T183A	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.T183A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	183					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.T183A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGTGGTTGGTGCTGTTTGCT	0.562000													8	76					0	0	0.004482	0	0
ZC3H4	23211	broad.mit.edu	37	19	47587669	47587669	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:47587669G>A	ENST00000253048.5	-	9	1188	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	384							nucleic acid binding|zinc ion binding	p.P384L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTGCTGGTGGGGCTTGTCATG	0.562000													8	42					0	0	0.004482	0	0
CKAP5	9793	broad.mit.edu	37	11	46772989	46772989	+	Silent	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:46772989G>A	ENST00000529230.1	-	39	5275	c.5229C>T	c.(5227-5229)ttC>ttT	p.F1743F	CKAP5_ENST00000354558.3_Silent_p.F1683F|CKAP5_ENST00000312055.5_Silent_p.F1683F|CKAP5_ENST00000415402.1_Silent_p.F1743F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1743					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.F1743F(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTTGGGGAAGACCTTCA	0.413000													20	190					0	0	0.002780	0	0
MCM7	4176	broad.mit.edu	37	7	99697637	99697637	+	Splice_Site	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:99697637C>A	ENST00000303887.5	-	2	756	c.111_splice	c.e2+1	p.L37_splice	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Splice_Site_p.L37_splice	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	37					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	p.L37F(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTAGACTTACCAACTGGTTCC	0.413000													11	45					0.000978159	0.00107994	0.000978	1	0
MMP16	4325	broad.mit.edu	37	8	89086923	89086923	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:89086923G>A	ENST00000286614.6	-	7	1413	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	378	Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.P378S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATTTGCATTGGGTATCCATCC	0.463000													12	89					0	0	0.001368	0	0
PRR23B	389151	broad.mit.edu	37	3	138739045	138739045	+	Silent	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr3:138739045C>T	ENST00000329447.5	-	1	723	c.459G>A	c.(457-459)gaG>gaA	p.E153E	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	153								p.E153E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTCGTAGGCCTCTTCCTGGG	0.642000													14	40					0	0	0.002450	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537603	5537603	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:5537603G>T	ENST00000380184.1	-	1	332	c.69C>A	c.(67-69)gaC>gaA	p.D23E	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	23								p.D23E(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGATATTTTTGTCTGCCAGCA	0.512000													6	65					0.00307968	0.00335821	0.003080	1	0
CASZ1	54897	broad.mit.edu	37	1	10702940	10702940	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:10702940C>A	ENST00000377022.3	-	20	4455	c.4138G>T	c.(4138-4140)Gtg>Ttg	p.V1380L	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.V1380L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCGTTACCCACGGGGGTGCTG	0.667000													7	19					5.18039e-06	6.19661e-06	0.003080	1	0
SERPINA10	51156	broad.mit.edu	37	14	94756593	94756593	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:94756593A>T	ENST00000554723.1	-	2	876	c.458T>A	c.(457-459)aTg>aAg	p.M153K	SERPINA10_ENST00000261994.4_Missense_Mutation_p.M113K|SERPINA10_ENST00000554173.1_Missense_Mutation_p.M113K|SERPINA10_ENST00000393096.1_Missense_Mutation_p.M113K			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	113					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.M113K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGCCCCCAGCATCAAGCCTGT	0.572000													20	43					0	0	0.010504	0	0
MYO5A	4644	broad.mit.edu	37	15	52646177	52646177	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr15:52646177G>C	ENST00000399231.3	-	26	3701	c.3458C>G	c.(3457-3459)tCa>tGa	p.S1153*	MYO5A_ENST00000356338.6_Nonsense_Mutation_p.S1153*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.S1153*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.S1153*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.S1153*	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1153					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.S1153*(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAGGAACAATGACATGTCCAG	0.512000													28	108					0	0	0.005443	0	0
WNT8A	7478	broad.mit.edu	37	5	137424687	137424687	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:137424687G>T	ENST00000506684.1	+	4	729	c.493G>T	c.(493-495)Gtg>Ttg	p.V165L	WNT8A_ENST00000398754.1_Missense_Mutation_p.V147L			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	147					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.V147L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAACTCTTTGTGGACAGTTT	0.512000													33	83					3.6622e-26	5.51931e-26	0.003755	1	0
FOXRED1	55572	broad.mit.edu	37	11	126146969	126146969	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr11:126146969G>A	ENST00000263578.5	+	10	1179	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Missense_Mutation_p.E355K|FOXRED1_ENST00000442061.2_Missense_Mutation_p.E199K	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	369						integral to membrane|mitochondrion	oxidoreductase activity|protein binding	p.E369K(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		ACTCCAGCAGGAAGAACCGGA	0.562000													5	51					0	0	0.001168	0	0
LRTM2	654429	broad.mit.edu	37	12	1943850	1943850	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:1943850A>T	ENST00000543818.1	+	5	1918	c.1076A>T	c.(1075-1077)gAg>gTg	p.E359V	CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.E359V|LRTM2_ENST00000535041.1_Missense_Mutation_p.E359V|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	359						integral to membrane		p.E359V(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCCGAGGGCGAGCACGAGGAC	0.657000													8	63					0	0	0.004482	0	0
OR2T33	391195	broad.mit.edu	37	1	248436751	248436751	+	Silent	SNP	C	C	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:248436751C>A	ENST00000318021.2	-	1	387	c.366G>T	c.(364-366)gcG>gcT	p.A122A		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A122A(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGCAGACAGCCGCATAGCGGT	0.612000													13	86					1.99824e-07	2.5031e-07	0.004990	1	0
GLT1D1	144423	broad.mit.edu	37	12	129429874	129429874	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr12:129429874G>C	ENST00000442111.2	+	9	707	c.619G>C	c.(619-621)Gat>Cat	p.D207H	GLT1D1_ENST00000542193.1_Missense_Mutation_p.D124H|GLT1D1_ENST00000281703.6_Missense_Mutation_p.D127H|GLT1D1_ENST00000537468.1_Missense_Mutation_p.D212H			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	207					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	p.D127H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTTCAGGTCGATCCAGTGTT	0.572000													14	77					0	0	0.003163	0	0
IGLV11-55	28770	broad.mit.edu	37	22	22556531	22556531	+	RNA	SNP	C	C	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:22556531C>T	ENST00000390286.2	+	0	357																											ATTATTACTGCCAGGTGTACG	0.483000													21	84					0	0	0.008871	0	0
OCIAD1	54940	broad.mit.edu	37	4	48852087	48852087	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr4:48852087C>G	ENST00000425583.2	+	6	640	c.365C>G	c.(364-366)tCt>tGt	p.S122C	OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000396448.2_Missense_Mutation_p.S122C|OCIAD1_ENST00000506801.1_Missense_Mutation_p.S68C|OCIAD1_ENST00000264312.7_Missense_Mutation_p.S122C|OCIAD1_ENST00000508293.1_Missense_Mutation_p.S122C|OCIAD1_ENST00000513391.2_Missense_Mutation_p.S122C|OCIAD1_ENST00000381473.3_Missense_Mutation_p.S122C|OCIAD1_ENST00000444354.2_Missense_Mutation_p.S122C|OCIAD1_ENST00000509122.1_Missense_Mutation_p.S95C	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	122						endosome	protein binding	p.S122C(1)		breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GCACGACGATCTTCACCACCT	0.383000													4	63					0	0	0.009096	0	0
VCAN	1462	broad.mit.edu	37	5	82789668	82789668	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:82789668G>T	ENST00000265077.3	+	5	1231	c.666G>T	c.(664-666)atG>atT	p.M222I	VCAN_ENST00000342785.4_Missense_Mutation_p.M222I|VCAN_ENST00000512590.2_Missense_Mutation_p.M174I|VCAN_ENST00000343200.5_Missense_Mutation_p.M222I|VCAN_ENST00000502527.2_Missense_Mutation_p.M222I|VCAN_ENST00000513984.1_Missense_Mutation_p.M222I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	222	Link 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.M222I(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGATAAGATGGGAAAGGCAG	0.438000													9	53					7.48243e-07	9.20981e-07	0.006214	1	0
OR6N2	81442	broad.mit.edu	37	1	158746544	158746544	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:158746544G>C	ENST00000339258.1	-	1	881	c.882C>G	c.(880-882)aaC>aaG	p.N294K		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N294K(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGATTTCCTTGTTACGAAGAC	0.418000													29	116					0	0	0.008361	0	0
RP11-206L10.10	0	broad.mit.edu	37	1	745643	745643	+	RNA	DEL	C	C	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:745643delC	ENST00000435300.1	-	0	340																											TTCAAAGTGACAGACTGTGGG	0.299													5	7	---	---	---	---					
CSDE1	7812	broad.mit.edu	37	1	115260835	115260835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:115260835delC	ENST00000438362.2	-	20	2868	c.2490delG	c.(2488-2490)ggfs	p.G830fs	CSDE1_ENST00000483407.1_5'UTR|CSDE1_ENST00000534699.1_Frame_Shift_Del_p.G784fs|CSDE1_ENST00000358528.4_Frame_Shift_Del_p.G784fs|CSDE1_ENST00000339438.6_Frame_Shift_Del_p.G753fs|CSDE1_ENST00000261443.5_Frame_Shift_Del_p.G753fs|CSDE1_ENST00000369530.1_Frame_Shift_Del_p.G799fs|CSDE1_ENST00000530886.1_Frame_Shift_Del_p.G654fs	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	784					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCACCAAACCCCTGTGGGG	0.423													31	86	---	---	---	---					
LAMTOR2	28956	broad.mit.edu	37	1	156025152	156025159	+	Frame_Shift_Del	DEL	ACGACCGG	ACGACCGG	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:156025152_156025159delACGACCGG	ENST00000368305.4	+	2	305_312	c.167_174delACGACCGG	c.(166-174)tfs	p.YDR56fs	LAMTOR2_ENST00000368304.5_Frame_Shift_Del_p.YDR56fs|LAMTOR2_ENST00000489664.1_3'UTR|LAMTOR2_ENST00000368302.3_Frame_Shift_Del_p.YDR56fs	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	56					cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						TGGGCCGCCTACGACCGGAACGGGAACC	0.567													16	140	---	---	---	---					
ILDR2	387597	broad.mit.edu	37	1	166904644	166904644	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:166904644delG	ENST00000271417.3	-	6	829	c.774delC	c.(772-774)tcfs	p.S258fs	ILDR2_ENST00000529071.1_Frame_Shift_Del_p.S239fs|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000469934.2_Frame_Shift_Del_p.S258fs|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	258						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CAGAGGGGATGGAGTAAGGGC	0.597													9	79	---	---	---	---					
HEATR1	55127	broad.mit.edu	37	1	236719428	236719429	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:236719428_236719429insT	ENST00000366582.3	-	38	5599_5600	c.5485_5486insA	c.(5485-5487)ttafs	p.L1829fs	HEATR1_ENST00000366581.2_Frame_Shift_Ins_p.L1748fs	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1829					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTGCTTGTAAGTTTTTTTGATG	0.436													22	138	---	---	---	---					
ZNF670	93474	broad.mit.edu	37	1	247200851	247200852	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr1:247200851_247200852insT	ENST00000366503.2	-	4	1227_1228	c.1069_1070insA	c.(1069-1071)gacfs	p.D357fs		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AGTATGAGTCCTTTCATGGCTT	0.416													12	137	---	---	---	---					
NRXN1	9378	broad.mit.edu	37	2	50282182	50282182	+	Splice_Site	DEL	C	C	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:50282182delC	ENST00000404971.1	-	21	5178	c.3838_splice	c.e21-1	p.G1280_splice	NRXN1_ENST00000401669.2_Splice_Site_p.G1240_splice|NRXN1_ENST00000402717.3_Splice_Site_p.G1232_splice|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000405472.3_Splice_Site_p.G1232_splice|NRXN1_ENST00000342183.5_Intron	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1239	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATCATTGTTTCCTTTAAAGTT	0.358													8	12	---	---	---	---					
ALMS1	7840	broad.mit.edu	37	2	73613180	73613180	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:73613180delC	ENST00000264448.6	+	1	295	c.184delC	c.(184-186)ccfs	p.P62fs	ALMS1_ENST00000409009.1_Frame_Shift_Del_p.P62fs|ALMS1_ENST00000377715.1_Frame_Shift_Del_p.P62fs	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	62	Glu-rich.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCACTACGGGCCCCAGCATCT	0.682													2	4	---	---	---	---					
ABCB11	8647	broad.mit.edu	37	2	169830280	169830280	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr2:169830280delC	ENST00000263817.6	-	13	1503	c.1379delG	c.(1378-1380)gafs	p.G460fs		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	460	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGTACTTTTTCCAGCTCCACT	0.453													38	168	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24511461	24511462	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:24511461_24511462delTG	ENST00000264463.4	-	6	1483_1484	c.976_977delCA	c.(976-978)gfs	p.Q326fs		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	326	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATGCCTTCCTGTGTGTCCTTC	0.416										HNSCC(23;0.051)			73	249	---	---	---	---					
SPEF2	79925	broad.mit.edu	37	5	35654782	35654782	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr5:35654782delG	ENST00000440995.2	+	7	932	c.932delG	c.(931-933)cgfs	p.R312fs	SPEF2_ENST00000356031.3_Frame_Shift_Del_p.R312fs|SPEF2_ENST00000282469.6_Frame_Shift_Del_p.R312fs|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.R312fs			Q9C093	SPEF2_HUMAN	sperm flagellar 2	312					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGAAAAGACGGCGGAAATTG	0.383													16	77	---	---	---	---					
BMP5	653	broad.mit.edu	37	6	55638989	55638989	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:55638989delC	ENST00000370830.3	-	4	1583	c.885delG	c.(883-885)cafs	p.Q295fs	BMP5_ENST00000446683.2_Frame_Shift_Del_p.Q295fs	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	295					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTGTTTTGACTGAGGTCCCT	0.418													25	113	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152780041	152780041	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr6:152780041delG	ENST00000367255.5	-	22	3020	c.2419delC	c.(2419-2421)ttfs	p.L807fs	SYNE1_ENST00000265368.4_Frame_Shift_Del_p.L807fs|SYNE1_ENST00000448038.1_Frame_Shift_Del_p.L814fs|SYNE1_ENST00000341594.5_Frame_Shift_Del_p.L814fs|SYNE1_ENST00000367253.4_Frame_Shift_Del_p.L807fs|SYNE1_ENST00000413186.2_Frame_Shift_Del_p.L807fs|SYNE1_ENST00000423061.1_Frame_Shift_Del_p.L814fs|SYNE1_ENST00000367248.3_Frame_Shift_Del_p.L797fs|SYNE1_ENST00000495090.2_Frame_Shift_Del_p.L374fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	807					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTCATAAAGGAGTGGGGAG	0.388										HNSCC(10;0.0054)			13	58	---	---	---	---					
BAZ1B	9031	broad.mit.edu	37	7	72884773	72884773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr7:72884773delC	ENST00000339594.4	-	8	2972	c.2634delG	c.(2632-2634)aafs	p.K878fs	BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.K878fs	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	878					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGCTTTGTGCTTCCGTATTC	0.418													23	76	---	---	---	---					
CNBD1	168975	broad.mit.edu	37	8	87951878	87951879	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr8:87951878_87951879insA	ENST00000518476.1	+	4	378_379	c.327_328insA	c.(325-330)aaatatfs	p.Y110fs		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	110										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATGATTCTAACAATATAGCTGT	0.347													16	106	---	---	---	---					
CACNA1B	774	broad.mit.edu	37	9	141010017	141010017	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr9:141010017delC	ENST00000277549.5	+	42	5814	c.3245delC	c.(3244-3246)tcfs	p.S1082fs	CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.S1888fs|CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.S1889fs|CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.S1887fs|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.S1886fs|CACNA1B_ENST00000371372.1_Frame_Shift_Del_p.S1888fs			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1888					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGTCCTGTGTCCCTGTTCCAC	0.607													15	101	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16893306	16893306	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:16893306delA	ENST00000377833.4	-	60	9656	c.9591delT	c.(9589-9591)atfs	p.I3197fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3197	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGTGAGGTGAATTACTTTGT	0.358													7	80	---	---	---	---					
LYZL2	119180	broad.mit.edu	37	10	30915711	30915711	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr10:30915711delC	ENST00000375318.2	-	2	328	c.272delG	c.(271-273)gafs	p.G91fs		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	45					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CTCACAGTTTCCAAGGCTGAA	0.507													14	212	---	---	---	---					
KLC1	3831	broad.mit.edu	37	14	104135917	104135917	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr14:104135917delG	ENST00000389744.4	+	6	1136	c.867delG	c.(865-867)ttfs	p.L289fs	KLC1_ENST00000452929.2_Frame_Shift_Del_p.L289fs|KLC1_ENST00000554280.1_Frame_Shift_Del_p.L289fs|KLC1_ENST00000445352.4_Frame_Shift_Del_p.L287fs|KLC1_ENST00000380038.3_Frame_Shift_Del_p.L289fs|RP11-73M18.2_ENST00000472726.2_Frame_Shift_Del_p.L461fs|KLC1_ENST00000348520.6_Frame_Shift_Del_p.L289fs|KLC1_ENST00000553286.1_Frame_Shift_Del_p.L289fs|KLC1_ENST00000347839.6_Frame_Shift_Del_p.L289fs|KLC1_ENST00000334553.6_Frame_Shift_Del_p.L289fs|KLC1_ENST00000557450.1_Frame_Shift_Del_p.L289fs|KLC1_ENST00000555836.1_Frame_Shift_Del_p.L289fs|KLC1_ENST00000557575.1_Frame_Shift_Del_p.L289fs|KLC1_ENST00000246489.7_Frame_Shift_Del_p.L289fs			Q07866	KLC1_HUMAN	kinesin light chain 1	289					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGAAAACTTTGGGCAAAGATC	0.323													16	98	---	---	---	---					
MSLNL	401827	broad.mit.edu	37	16	823175	823175	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:823175delA	ENST00000293892.3	-	10	2092	c.2093delT	c.(2092-2094)cgfs	p.L699fs	MSLNL_ENST00000442466.1_Frame_Shift_Del_p.L348fs			Q96KJ4	MSLNL_HUMAN	mesothelin-like	348					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGTGGGCAGCAGGTGCTGCAA	0.647													10	27	---	---	---	---					
C16orf91	283951	broad.mit.edu	37	16	1476238	1476239	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:1476238_1476239insA	ENST00000310355.1	-	3	383_384	c.384_385insT	c.(382-387)ccggctfs	p.A129fs				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GTGTGCAGCCCAGGGGGGCTTC	0.614													32	68	---	---	---	---					
KCTD5	54442	broad.mit.edu	37	16	2752407	2752408	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr16:2752407_2752408delCC	ENST00000301738.4	+	5	677_678	c.603_604delCC	c.(601-606)tttcfs	p.FL201fs	KCTD5_ENST00000564195.1_Frame_Shift_Del_p.P171fs	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	201					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						AAGCCGAGTTCCTCTGTGTGGT	0.614													26	50	---	---	---	---					
MRC2	9902	broad.mit.edu	37	17	60751498	60751498	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr17:60751498delG	ENST00000303375.5	+	9	1938	c.1536delG	c.(1534-1536)cafs	p.Q512fs		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	512					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGCTGAGCCAGGGGGCCGCCG	0.637													2	4	---	---	---	---					
SYT3	84258	broad.mit.edu	37	19	51132709	51132709	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr19:51132709delC	ENST00000338916.4	-	4	1756	c.1123delG	c.(1123-1125)ccfs	p.A375fs	SYT3_ENST00000593901.1_Frame_Shift_Del_p.A375fs|SYT3_ENST00000544769.1_Frame_Shift_Del_p.A375fs|SYT3_ENST00000600079.1_Frame_Shift_Del_p.A375fs	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	375	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCCAGCTCGGCCAGGGGCACC	0.602													7	51	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667826	23667826	+	Frame_Shift_Del	DEL	C	C	-	rs140501583		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr20:23667826delC	ENST00000217423.3	-	2	311	c.241delG	c.(241-243)tgfs	p.V81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AAGTAATTCACCCCCCCAAAG	0.552													18	156	---	---	---	---					
KRTAP24-1	643803	broad.mit.edu	37	21	31654988	31654988	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr21:31654988delG	ENST00000340345.4	-	1	288	c.263delC	c.(262-264)cgfs	p.P88fs		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	88						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGAGTTTGACGGGTCACAACC	0.572													19	80	---	---	---	---					
PPARA	5465	broad.mit.edu	37	22	46594329	46594329	+	Frame_Shift_Del	DEL	G	G	-	rs146169560		TCGA-49-6743-01A-11D-1855-08	TCGA-49-6743-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	545c9d29-a8e0-4d2d-8552-d27b46f96070	d46dc31a-233c-4dcf-9c64-5ae5a4341be7	g.chr22:46594329delG	ENST00000396000.2	+	3	314	c.49delG	c.(49-51)gcfs	p.G17fs	PPARA_ENST00000402126.1_Frame_Shift_Del_p.G17fs|PPARA_ENST00000262735.5_Frame_Shift_Del_p.G17fs|PPARA_ENST00000434345.2_Frame_Shift_Del_p.G17fs|PPARA_ENST00000407236.1_Frame_Shift_Del_p.G17fs			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	17					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	ACTCGAGGCCGGCGATCTAGA	0.567													18	163	---	---	---	---					
