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
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:7578211C>G	ENST00000420246.2	-	6	770	c.638G>C	c.(637-639)cGa>cCa	p.R213P	TP53_ENST00000455263.2_Missense_Mutation_p.R213P|TP53_ENST00000413465.2_Missense_Mutation_p.R213P|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R213P|TP53_ENST00000445888.2_Missense_Mutation_p.R213P|TP53_ENST00000269305.4_Missense_Mutation_p.R213P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACACTATGTCGAAAAGTGTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	31					0	0	0.080935	0	0
DHX36	170506	broad.mit.edu	37	3	154027540	154027540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:154027540G>A	ENST00000496811.1	-	5	795	c.715C>T	c.(715-717)Caa>Taa	p.Q239*	DHX36_ENST00000544526.1_Nonsense_Mutation_p.Q239*|DHX36_ENST00000308361.6_Nonsense_Mutation_p.Q239*|DHX36_ENST00000329463.5_Nonsense_Mutation_p.Q239*	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	239	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGAGTAACTTGAGTGGTTTTG	0.338000													5	29					0	0	0.014758	0	0
PSMD2	5708	broad.mit.edu	37	3	184025484	184025484	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:184025484G>A	ENST00000310118.4	+	18	2844	c.2286G>A	c.(2284-2286)gtG>gtA	p.V762V	PSMD2_ENST00000435761.1_Silent_p.V603V|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.V632V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	762					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TCTTCATGGTGCGCTTGGCAC	0.507000													7	46					0	0	0.038147	0	0
CDT1	81620	broad.mit.edu	37	16	88871192	88871192	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:88871192C>T	ENST00000301019.4	+	3	993	c.374C>T	c.(373-375)tCa>tTa	p.S125L		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	125					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GAGCTTGCGTCATGCCTGCAA	0.706000													4	32					0	0	0.014758	0	0
MALT1	10892	broad.mit.edu	37	18	56400691	56400691	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr18:56400691G>A	ENST00000348428.3	+	11	1543	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.D418N	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	429	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GGTCCCCGTTGATGCTCCAAA	0.343000			T	BIRC3	MALT								7	85					0	0	0.029380	0	0
WDFY3	23001	broad.mit.edu	37	4	85701359	85701359	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr4:85701359C>A	ENST00000322366.6	-	26	4674	c.4267G>T	c.(4267-4269)Gat>Tat	p.D1423Y	WDFY3_ENST00000295888.4_Missense_Mutation_p.D1423Y			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1423						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			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)		CCTTCCACATCAGAGGCCATG	0.507000													23	123					3.62473e-10	4.96723e-10	0.062417	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	67					0	0	0.014758	0	0
SNORD3A	780851	broad.mit.edu	37	17	19091465	19091465	+	RNA	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:19091465G>A	ENST00000365494.1	+	0	137																											gcgttgcttggctgcaactgc	0.517000													7	209					0	0	0.069234	0	0
UBAP2	55833	broad.mit.edu	37	9	33932597	33932597	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:33932597G>C	ENST00000379238.1	-	19	2255	c.2138C>G	c.(2137-2139)tCt>tGt	p.S713C	UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.S713C|UBAP2_ENST00000449054.1_Missense_Mutation_p.S713C|UBAP2_ENST00000379239.4_Missense_Mutation_p.S446C|UBAP2_ENST00000539807.1_Missense_Mutation_p.S468C			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	713										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGCATGTGCAGAGAGGCTGCT	0.567000													3	30					0	0	0.014758	0	0
RASA1	5921	broad.mit.edu	37	5	86658371	86658371	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr5:86658371C>G	ENST00000456692.2	+	10	920	c.805C>G	c.(805-807)Caa>Gaa	p.Q269E	RASA1_ENST00000274376.6_Missense_Mutation_p.Q446E|RASA1_ENST00000506290.1_Missense_Mutation_p.Q280E|RASA1_ENST00000512763.1_Missense_Mutation_p.Q279E	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	446	SH2 1.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AATTCAGGATCAAGAACAAGT	0.294000													6	61					0	0	0.029380	0	0
TRAP1	10131	broad.mit.edu	37	16	3724418	3724418	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:3724418G>A	ENST00000575671.1	-	4	1068	c.339C>T	c.(337-339)caC>caT	p.H113H	TRAP1_ENST00000538171.1_Silent_p.H269H|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000246957.5_Silent_p.H322H			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	322					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GGGGCTTGTCGTGAGCCTGCG	0.602000													5	61					0	0	0.014758	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		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.E545K(881)|p.E545Q(18)		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)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	53					0	0	0.047766	0	0
INSR	3643	broad.mit.edu	37	19	7184590	7184590	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:7184590G>A	ENST00000341500.5	-	3	750	c.711C>T	c.(709-711)agC>agT	p.S237S	INSR_ENST00000302850.5_Silent_p.S237S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	237	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCAGGCACTCGCTGTGGCAAC	0.587000													4	42					0	0	0.014758	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372683	74372683	+	RNA	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:74372683C>T	ENST00000429810.2	-	0	1513																											ATCCATGTTTCTCCATCCACC	0.488000													8	36					0	0	0.058154	0	0
AVPR2	554	broad.mit.edu	37	X	153172115	153172115	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:153172115G>C	ENST00000358927.2	+	4	1258	c.1049G>C	c.(1048-1050)aGc>aCc	p.S350T	AVPR2_ENST00000337474.5_Missense_Mutation_p.S350T|AVPR2_ENST00000370049.1_3'UTR			P30518	V2R_HUMAN	arginine vasopressin receptor 2	350					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	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)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACCCCACCCAGCCTGGGTCCC	0.607000													5	86					0	0	0.014758	0	0
RBM27	54439	broad.mit.edu	37	5	145651234	145651234	+	Silent	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr5:145651234C>T	ENST00000265271.5	+	19	3151	c.2985C>T	c.(2983-2985)ttC>ttT	p.F995F	RBM27_ENST00000506502.1_Silent_p.F940F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	995					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGCATTTCTCAGTAAGTT	0.383000													5	32					0	0	0.014758	0	0
MRPS33	51650	broad.mit.edu	37	7	140710224	140710224	+	Silent	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr7:140710224G>C	ENST00000393008.3	-	2	365	c.210C>G	c.(208-210)ctC>ctG	p.L70L	MRPS33_ENST00000467334.1_Silent_p.L60L|MRPS33_ENST00000469351.1_Silent_p.L70L|MRPS33_ENST00000324787.5_Silent_p.L70L|MRPS33_ENST00000496958.1_Silent_p.L70L	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	70					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					ATCACCTGTAGAGTCCAAGAA	0.408000													13	85					0	0	0.016723	0	0
SMC2	10592	broad.mit.edu	37	9	106896745	106896745	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:106896745A>G	ENST00000286398.7	+	23	3446	c.3158A>G	c.(3157-3159)aAt>aGt	p.N1053S	SMC2_ENST00000303219.8_Missense_Mutation_p.N1053S|SMC2_ENST00000374787.3_Missense_Mutation_p.N1053S|SMC2_ENST00000374793.3_Missense_Mutation_p.N1053S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1053					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CCTGGTGCTAATGCTATGCTT	0.393000													5	54					0	0	0.021553	0	0
ITGAV	3685	broad.mit.edu	37	2	187529348	187529348	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:187529348G>A	ENST00000261023.3	+	20	2327	c.2053G>A	c.(2053-2055)Ggg>Agg	p.G685R	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.G639R|ITGAV_ENST00000374907.3_Missense_Mutation_p.G649R	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	685					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	p.G685W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TGATTTCATCGGGGTTGTCCG	0.433000													14	137					0	0	0.024245	0	0
GGT7	2686	broad.mit.edu	37	20	33451191	33451191	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr20:33451191G>A	ENST00000336431.5	-	2	374	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	110					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGGCCGTGACGATGACCGTGA	0.677000													9	72					0	0	0.058154	0	0
MOCS2	4338	broad.mit.edu	37	5	52398014	52398014	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr5:52398014T>C	ENST00000396954.3	-	4	816	c.139A>G	c.(139-141)Ata>Gta	p.I47V	MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000508922.1_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				GTAAAGTTTATAACATCTTTA	0.358000													3	22					0	0	0.004672	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44221083	44221083	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:44221083A>T	ENST00000371554.1	+	11	2247	c.2033A>T	c.(2032-2034)aAc>aTc	p.N678I	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.N678I|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.N678I			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	678					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCCACTCCAACCGCATCTAT	0.488000													37	331					0	0	0.086207	0	0
MYO1D	4642	broad.mit.edu	37	17	31099821	31099821	+	Missense_Mutation	SNP	G	G	T	rs140725997		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:31099821G>T	ENST00000318217.5	-	5	908	c.604C>A	c.(604-606)Cat>Aat	p.H202N	MYO1D_ENST00000579584.1_Missense_Mutation_p.H202N|MYO1D_ENST00000583621.1_Missense_Mutation_p.H202N|MYO1D_ENST00000394649.4_Missense_Mutation_p.H114N	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	202	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TAGAAAGAATGAAAGCTTCTT	0.388000													19	157					1.40151e-16	1.93854e-16	0.055883	1	0
RPA1	6117	broad.mit.edu	37	17	1782859	1782859	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:1782859A>G	ENST00000254719.5	+	11	1068	c.958A>G	c.(958-960)Atc>Gtc	p.I320V		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	320					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTTAGACATCATCGGGATCTG	0.493000								Nucleotide excision repair (NER)					52	91					0	0	0.048971	0	0
HCFC1	3054	broad.mit.edu	37	X	153218117	153218117	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:153218117G>A	ENST00000310441.7	-	19	5756	c.4790C>T	c.(4789-4791)gCt>gTt	p.A1597V	HCFC1_ENST00000369984.4_Missense_Mutation_p.A1641V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1528V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1597					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGTGCCAGCTTGGGCCTC	0.652000													4	61					0	0	0.009096	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085227	80085227	+	Silent	SNP	T	T	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:80085227T>G	ENST00000466387.1	+	8	1111	c.387T>G	c.(385-387)gcT>gcG	p.A129A	CTNNA2_ENST00000496558.1_Silent_p.A129A|CTNNA2_ENST00000361291.4_Silent_p.A163A|CTNNA2_ENST00000402739.4_Silent_p.A129A|CTNNA2_ENST00000541047.1_Silent_p.A129A|CTNNA2_ENST00000540488.1_Silent_p.A129A			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	129					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGGCAAGGGCTTTGCTCTCCG	0.532000													7	97					0	0	0.038147	0	0
NBPF9	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:144828704T>G	ENST00000338347.4	+	14	1750	c.1750T>G	c.(1750-1752)Tac>Gac	p.Y584D	NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR					neuroblastoma breakpoint family, member 9									p.L657L(3)|p.Y584D(1)		NS(2)|prostate(1)	3						CTTCGCCCTTTACGTGGACAA	0.438000													4	273					0	0	0.014758	0	0
CCDC130	81576	broad.mit.edu	37	19	13873753	13873753	+	Silent	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:13873753G>C	ENST00000586600.1	+	11	1565	c.1062G>C	c.(1060-1062)ggG>ggC	p.G354G	CCDC130_ENST00000221554.8_Silent_p.G354G			P13994	CC130_HUMAN	coiled-coil domain containing 130	354					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GGCAGGAAGGGAGCCGTCAGG	0.692000													6	21					0	0	0.038147	0	0
PHF20L1	51105	broad.mit.edu	37	8	133823320	133823320	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr8:133823320G>C	ENST00000395386.2	+	9	1176	c.877G>C	c.(877-879)Gat>Cat	p.D293H	PHF20L1_ENST00000395374.1_Missense_Mutation_p.D132H|PHF20L1_ENST00000395376.1_Missense_Mutation_p.D298H|PHF20L1_ENST00000395383.1_Missense_Mutation_p.D297H|PHF20L1_ENST00000395390.2_Missense_Mutation_p.D268H|PHF20L1_ENST00000337920.4_Missense_Mutation_p.D267H|PHF20L1_ENST00000315808.10_Missense_Mutation_p.D293H|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_Missense_Mutation_p.D163H|PHF20L1_ENST00000395379.1_Missense_Mutation_p.D293H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	293							nucleic acid binding|zinc ion binding			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)			TGTTGGGGTTGATGGTGCTGA	0.363000													29	88					0	0	0.059317	0	0
KANK4	163782	broad.mit.edu	37	1	62740512	62740512	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:62740512G>A	ENST00000371153.4	-	3	642	c.264C>T	c.(262-264)ctC>ctT	p.L88L	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	88										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACCAGTTTTGGAGGGGCGGGG	0.602000													6	153					0	0	0.021553	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795832	21795832	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr14:21795832G>A	ENST00000206660.6	+	17	2761	c.2761G>A	c.(2761-2763)Gtg>Atg	p.V921M	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.V921M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.V883M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.V578M|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.V280M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.V247M			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	921					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATCTATTCAAGTGCAACTGGA	0.433000													12	55					0	0	0.016723	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44217204	44217204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:44217204C>T	ENST00000371554.1	+	3	452	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.Q80*|HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.Q80*			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	80					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCCAACCCTCAGGAACGTAC	0.458000													11	70					0	0	0.069234	0	0
KLHL25	64410	broad.mit.edu	37	15	86312762	86312762	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr15:86312762G>T	ENST00000337975.5	-	2	554	c.280C>A	c.(280-282)Cac>Aac	p.H94N	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.H94N	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	94	BTB.					cytoplasm				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						ACCTCCGGGTGCAGGTTGTCC	0.612000													4	73					0.00024832	0.000331093	0.009096	1	0
MICALCL	84953	broad.mit.edu	37	11	12313774	12313774	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr11:12313774C>T	ENST00000256186.2	+	2	350	c.59C>T	c.(58-60)tCa>tTa	p.S20L		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	20	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		tcttcccattcatcttcccca	0.517000													10	49					0	0	0.058154	0	0
TM9SF4	9777	broad.mit.edu	37	20	30723921	30723921	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr20:30723921C>G	ENST00000217315.5	+	3	463	c.123C>G	c.(121-123)taC>taG	p.Y41*	TM9SF4_ENST00000398022.2_Nonsense_Mutation_p.Y58*			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	58						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTATGAATACTATTCACTGC	0.512000													13	68					0	0	0.016723	0	0
EML5	161436	broad.mit.edu	37	14	89124674	89124674	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr14:89124674C>T	ENST00000554922.1	-	26	3982	c.3734G>A	c.(3733-3735)cGc>cAc	p.R1245H	EML5_ENST00000380664.5_Missense_Mutation_p.R1245H|EML5_ENST00000352093.5_Missense_Mutation_p.R1207H	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1245						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATAAGTCCAGCGAACATTTGT	0.398000													7	135					0	0	0.029380	0	0
ZNF430	80264	broad.mit.edu	37	19	21239599	21239599	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:21239599A>T	ENST00000261560.5	+	5	666	c.485A>T	c.(484-486)tAt>tTt	p.Y162F		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y162C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAAGAATGTTATGATGAACTA	0.303000													4	31					0	0	0.009096	0	0
THAP7	80764	broad.mit.edu	37	22	21354371	21354371	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr22:21354371C>T	ENST00000215742.4	-	4	902	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	THAP7_ENST00000399133.2_Missense_Mutation_p.R243Q	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	243					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCCTCGGCTCGCCGCTTCCA	0.662000													4	31					0	0	0.014758	0	0
HIST4H4	121504	broad.mit.edu	37	12	14923813	14923813	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr12:14923813T>C	ENST00000539745.1	-	1	252	c.206A>G	c.(205-207)gAc>gGc	p.D69G		NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	69					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						AGTCACCGCGTCACGGATCAC	0.617000											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	85					0	0	0.013537	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413084	139413084	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:139413084C>T	ENST00000277541.6	-	6	1133	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	353	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.R353H(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGAGGCCACACGGTCATGGCA	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			5	15					0	0	0.047766	0	0
EYS	346007	broad.mit.edu	37	6	66044987	66044987	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:66044987C>T	ENST00000503581.1	-	11	2189	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	EYS_ENST00000393380.2_Missense_Mutation_p.R551Q|EYS_ENST00000370616.2_Missense_Mutation_p.R551Q|EYS_ENST00000370621.3_Missense_Mutation_p.R551Q|EYS_ENST00000342421.5_Missense_Mutation_p.R551Q|EYS_ENST00000370618.3_Missense_Mutation_p.R551Q	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	551			R -> L.		response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACATAGATACCGATATTCCTG	0.358000													9	47					0	0	0.058154	0	0
ATP5S	27109	broad.mit.edu	37	14	50798919	50798919	+	Silent	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr14:50798919C>G	ENST00000358473.1	+	5	666	c.666C>G	c.(664-666)ctC>ctG	p.L222L	CDKL1_ENST00000395834.1_Intron|CDKL1_ENST00000216378.2_3'UTR			Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	0					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		CTGCCATCCTCAAGTCTAGAT	0.483000													4	71					0	0	0.009096	0	0
RBL1	5933	broad.mit.edu	37	20	35695243	35695243	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr20:35695243C>G	ENST00000373664.3	-	6	796	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	RBL1_ENST00000344359.3_Missense_Mutation_p.E244Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	244					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CAGGGTGGCTCTTCAGAAGCC	0.388000													6	131					0	0	0.029380	0	0
CENPE	1062	broad.mit.edu	37	4	104082361	104082361	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr4:104082361T>A	ENST00000265148.3	-	20	2102	c.2013A>T	c.(2011-2013)ttA>ttT	p.L671F	CENPE_ENST00000380026.3_Missense_Mutation_p.L646F	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	671					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			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)		GGCTTTGATATAACTGAATAT	0.323000													5	32					0	0	0.014758	0	0
BPTF	2186	broad.mit.edu	37	17	65889610	65889610	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:65889610A>G	ENST00000321892.4	+	8	2619	c.2558A>G	c.(2557-2559)aAt>aGt	p.N853S	BPTF_ENST00000424123.3_Missense_Mutation_p.N714S|BPTF_ENST00000306378.6_Missense_Mutation_p.N727S|BPTF_ENST00000335221.5_Missense_Mutation_p.N853S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	853	Interaction with MAZ.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTCTACCACAATCAATACTCC	0.393000													5	55					0	0	0.014758	0	0
PABPC4	8761	broad.mit.edu	37	1	40036937	40036937	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:40036937T>C	ENST00000372857.3	-	3	1264	c.472A>G	c.(472-474)Atg>Gtg	p.M158V	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.M158V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M158V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M158V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	158	RRM 2.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATGCCATTCATCTTCTCGATG	0.552000													21	160					0	0	0.049695	0	0
VPS52	6293	broad.mit.edu	37	6	33237326	33237326	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:33237326C>G	ENST00000445902.2	-	5	531	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	105					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCTCACTCTCTTGAATATCT	0.428000													6	88					0	0	0.029380	0	0
KCNJ2	3759	broad.mit.edu	37	17	68172279	68172279	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:68172279A>G	ENST00000243457.3	+	2	1482	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.I367V	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	367					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AAAGAAATATATCCTCTCAAA	0.413000													20	123					0	0	0.055883	0	0
HOXB2	3212	broad.mit.edu	37	17	46622170	46622170	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:46622170G>A	ENST00000330070.4	-	1	1271	c.104C>T	c.(103-105)tCa>tTa	p.S35L	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	35					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CTTGATTGATGAAGTTTGAAA	0.527000													13	86					0	0	0.013537	0	0
MYCL	4610	broad.mit.edu	37	1	40366859	40366859	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:40366859C>A	ENST00000397332.2	-	2	462	c.338G>T	c.(337-339)gGc>gTc	p.G113V	MYCL_ENST00000429311.1_Missense_Mutation_p.G83V|MYCL_ENST00000372815.1_Missense_Mutation_p.G113V|MYCL_ENST00000372816.2_Missense_Mutation_p.G83V	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																		GTAGTTCCTGCCCCAGCCTTT	0.711000													5	28					0.00116845	0.00153035	0.021553	1	0
POLQ	10721	broad.mit.edu	37	3	121206259	121206259	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:121206259A>T	ENST00000264233.5	-	16	5647	c.5519T>A	c.(5518-5520)tTc>tAc	p.F1840Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1840					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCCTTAATGAATGTTTGGAA	0.393000								DNA polymerases (catalytic subunits)					9	82					0	0	0.058154	0	0
PAM	5066	broad.mit.edu	37	5	102296933	102296933	+	Splice_Site	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr5:102296933G>C	ENST00000438793.3	+	13	1632	c.1162_splice	c.e13+1	p.G388_splice	PAM_ENST00000348126.2_Splice_Site_p.D388_splice|PAM_ENST00000274392.9_Splice_Site_p.G291_splice|PAM_ENST00000455264.2_Splice_Site_p.G388_splice|PAM_ENST00000304400.7_Splice_Site_p.G388_splice|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Splice_Site_p.G388_splice	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	388	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTTAGACCAGGGTATGTATGC	0.333000													4	59					0	0	0.009096	0	0
ACACA	31	broad.mit.edu	37	17	35545260	35545260	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:35545260T>C	ENST00000353139.5	-	39	5214	c.4733A>G	c.(4732-4734)gAt>gGt	p.D1578G	ACACA_ENST00000394406.2_Missense_Mutation_p.D1541G|ACACA_ENST00000360679.3_Missense_Mutation_p.D1483G|ACACA_ENST00000335166.5_Missense_Mutation_p.D1463G	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1541					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			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)	TAGGCTGATATCCAAGTAATA	0.468000													3	46					0	0	0.004672	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522377	124522377	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:124522377C>T	ENST00000408936.3	+	6	1011	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R153W|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R249W			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	277	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCACCTGTACCGGGAGACCGA	0.612000													12	80					0	0	0.080935	0	0
NBAS	51594	broad.mit.edu	37	2	15374713	15374713	+	Silent	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:15374713C>T	ENST00000281513.5	-	46	6127	c.6102G>A	c.(6100-6102)aaG>aaA	p.K2034K	NBAS_ENST00000441750.1_Silent_p.K1914K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2034										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCACTATATCCTTGGGTGAGA	0.443000													5	69					0	0	0.014758	0	0
ABTB2	25841	broad.mit.edu	37	11	34182611	34182611	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr11:34182611G>A	ENST00000435224.2	-	11	2660	c.2236C>T	c.(2236-2238)Cac>Tac	p.H746Y	ABTB2_ENST00000298992.2_Missense_Mutation_p.H560Y	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	560							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ATCCAGATGTGCAGCTTCCAG	0.622000													4	17					0	0	0.021553	0	0
PFKL	5211	broad.mit.edu	37	21	45744411	45744411	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr21:45744411A>G	ENST00000403390.1	+	18	1829	c.1829A>G	c.(1828-1830)aAg>aGg	p.K610R	PFKL_ENST00000349048.4_Missense_Mutation_p.K563R			P17858	K6PL_HUMAN	phosphofructokinase, liver	563					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			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)		TCGGGGACCAAGCGCCGTGTG	0.662000													13	51					0	0	0.013537	0	0
COPA	1314	broad.mit.edu	37	1	160276272	160276272	+	Silent	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:160276272C>T	ENST00000241704.7	-	15	1543	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	COPA_ENST00000368069.3_Silent_p.K438K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	438					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTTCAGATTCTTGATCAGAA	0.413000													7	59					0	0	0.038147	0	0
MRI1	84245	broad.mit.edu	37	19	13879659	13879659	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:13879659G>A	ENST00000319545.8	+	5	662	c.605G>A	c.(604-606)cGc>cAc	p.R202H	MRI1_ENST00000040663.6_Missense_Mutation_p.R249H	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	249					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GGAGCTGACCGCGTGGTTGCC	0.652000													6	33					0	0	0.029380	0	0
RDH14	57665	broad.mit.edu	37	2	18736913	18736913	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:18736913G>A	ENST00000381249.3	-	2	662	c.555C>T	c.(553-555)agC>agT	p.S185S	RDH14_ENST00000468071.1_5'UTR|NT5C1B-RDH14_ENST00000532967.1_3'UTR	NM_020905.3	NP_065956.1			retinol dehydrogenase 14 (all-trans/9-cis/11-cis)											breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)					CCACAATCCTGCTGGGAGCTG	0.408000													6	68					0	0	0.021553	0	0
TSPAN14	81619	broad.mit.edu	37	10	82264528	82264528	+	Silent	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr10:82264528C>T	ENST00000429989.2	+	3	349	c.126C>T	c.(124-126)agC>agT	p.S42S	TSPAN14_ENST00000341863.6_Silent_p.S42S|TSPAN14_ENST00000372156.1_Silent_p.S42S|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372158.1_Silent_p.S42S|TSPAN14_ENST00000372164.3_Intron	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	42						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GGGCATGGAGCGAAAAGGTAG	0.517000													16	86					0	0	0.043863	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566303	155566303	+	Silent	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:155566303C>T	ENST00000295101.2	+	2	1368	c.891C>T	c.(889-891)gtC>gtT	p.V297V	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	297					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGATTGTCGTCATCCTAGAAG	0.413000													4	55					0	0	0.009096	0	0
TRIP12	9320	broad.mit.edu	37	2	230650483	230650483	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:230650483T>A	ENST00000283943.5	-	33	5037	c.4859A>T	c.(4858-4860)tAt>tTt	p.Y1620F	TRIP12_ENST00000389044.4_Missense_Mutation_p.Y1668F|TRIP12_ENST00000389045.3_Missense_Mutation_p.Y1350F	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1620					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTCATTTTCATACTGGATTTC	0.438000													7	89					0	0	0.029380	0	0
FILIP1	27145	broad.mit.edu	37	6	76022996	76022996	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:76022996G>A	ENST00000393004.2	-	5	2773	c.2552C>T	c.(2551-2553)tCt>tTt	p.S851F	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S851F|FILIP1_ENST00000370020.1_Missense_Mutation_p.S752F			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	851										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTCTAGAACAGAAGATCTTTC	0.453000													9	214					0	0	0.047766	0	0
PAK7	57144	broad.mit.edu	37	20	9520158	9520158	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr20:9520158C>A	ENST00000378429.3	-	11	2657	c.2111G>T	c.(2110-2112)gGt>gTt	p.G704V	PAK7_ENST00000378423.1_Missense_Mutation_p.G704V|PAK7_ENST00000353224.5_Missense_Mutation_p.G704V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	704			G -> S (in a metastatic melanoma sample; somatic mutation).				ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGACGGTGGACCTGCTAGTTT	0.512000													23	186					3.10358e-05	4.17573e-05	0.069288	1	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	24					0	0	0.004672	0	0
COL15A1	1306	broad.mit.edu	37	9	101748163	101748163	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:101748163G>A	ENST00000375001.3	+	3	840	c.417G>A	c.(415-417)acG>acA	p.T139T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	139	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCTACTACACGGAGCCAGGCT	0.607000													29	87					0	0	0.030593	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879519	3879519	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr18:3879519T>G	ENST00000315677.3	-	4	1145	c.550A>C	c.(550-552)Agc>Cgc	p.S184R	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S184R|DLGAP1_ENST00000581527.1_Missense_Mutation_p.S184R|DLGAP1_ENST00000584874.1_Missense_Mutation_p.S184R	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	184					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				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)				CGCTCCTTGCTCTTGCTGCGT	0.697000													12	120					0	0	0.013537	0	0
LGI2	55203	broad.mit.edu	37	4	25005706	25005706	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr4:25005706G>A	ENST00000382114.4	-	8	1190	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	335						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ACGTCTCGTCGTCGATCTGAA	0.443000													14	81					0	0	0.020292	0	0
HDX	139324	broad.mit.edu	37	X	83724381	83724381	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:83724381G>C	ENST00000297977.5	-	3	461	c.350C>G	c.(349-351)tCa>tGa	p.S117*	HDX_ENST00000373177.2_Nonsense_Mutation_p.S117*|HDX_ENST00000506585.2_Nonsense_Mutation_p.S59*	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	117						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTGCCTACTTGATGAACTGGC	0.388000													3	146					0	0	0.004672	0	0
PRKDC	5591	broad.mit.edu	37	8	48815268	48815268	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr8:48815268T>C	ENST00000314191.2	-	27	3186	c.3130A>G	c.(3130-3132)Ata>Gta	p.I1044V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I1044V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1044					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTGGTGTTATTTGCTTAATG	0.433000								Non-homologous end-joining					3	52					0	0	0.004672	0	0
DNAH11	8701	broad.mit.edu	37	7	21721264	21721264	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr7:21721264G>A	ENST00000328843.6	+	31	5475	c.5444G>A	c.(5443-5445)aGa>aAa	p.R1815K	DNAH11_ENST00000409508.3_Missense_Mutation_p.R1810K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1815	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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						GTCCATGCCAGAGACGTGGTG	0.388000									Kartagener syndrome				11	118					0	0	0.080935	0	0
WNK3	65267	broad.mit.edu	37	X	54324751	54324751	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:54324751C>G	ENST00000354646.2	-	7	1693	c.1255G>C	c.(1255-1257)Gat>Cat	p.D419H	WNK3_ENST00000375159.2_Missense_Mutation_p.D419H|WNK3_ENST00000375169.3_Missense_Mutation_p.D419H	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	419					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GAGCAATCATCTTCTTCTGCT	0.363000													6	48					0	0	0.021553	0	0
PPFIA3	8541	broad.mit.edu	37	19	49631641	49631641	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr19:49631641G>A	ENST00000334186.4	+	3	607	c.258G>A	c.(256-258)acG>acA	p.T86T	PPFIA3_ENST00000602351.1_Silent_p.T86T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	86						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CAGCTCTGACGAAGGAGCTGA	0.547000													7	73					0	0	0.058154	0	0
FAM120AOS	158293	broad.mit.edu	37	9	96214605	96214605	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr9:96214605C>G	ENST00000375412.5	-	1	1269	c.387G>C	c.(385-387)caG>caC	p.Q129H	FAM120A_ENST00000340893.4_Silent_p.V136V|FAM120A_ENST00000277165.6_Silent_p.V136V|FAM120A_ENST00000333936.5_Silent_p.V136V|FAM120A_ENST00000375389.3_Silent_p.V136V	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	129										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						CGCCAAAGGTCTGGTTCCTGC	0.701000													4	29					0	0	0.014758	0	0
RNF157	114804	broad.mit.edu	37	17	74161588	74161588	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:74161588C>G	ENST00000269391.6	-	7	799	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	RNF157_ENST00000319945.6_Missense_Mutation_p.E223Q	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	223							zinc ion binding			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)			CTCACCTTCTCAAAAGTACCC	0.483000													12	144					0	0	0.080935	0	0
KRT6A	3853	broad.mit.edu	37	12	52886867	52886867	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr12:52886867C>T	ENST00000330722.6	-	1	174	c.106G>A	c.(106-108)Gtc>Atc	p.V36I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	36	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GACACGGAGACGCTGCTGAAG	0.667000													5	105					0	0	0.021553	0	0
DMD	1756	broad.mit.edu	37	X	31792157	31792157	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chrX:31792157G>A	ENST00000357033.4	-	51	7668	c.7462C>T	c.(7462-7464)Ctg>Ttg	p.L2488L	DMD_ENST00000474231.1_Silent_p.L28L|DMD_ENST00000359836.1_Silent_p.L28L|DMD_ENST00000378677.2_Silent_p.L2484L|DMD_ENST00000541735.1_Silent_p.L28L|DMD_ENST00000378707.3_Silent_p.L28L|DMD_ENST00000343523.2_Silent_p.L28L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2488					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGATCAAGCAGAGAAAGCCAG	0.438000													10	81					0	0	0.058154	0	0
SIDT2	51092	broad.mit.edu	37	11	117056884	117056884	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr11:117056884A>G	ENST00000324225.4	+	9	1438	c.907A>G	c.(907-909)Ata>Gta	p.I303V	SIDT2_ENST00000431081.2_Missense_Mutation_p.I303V	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	303						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTGCCTGGGTATATTTCTCTC	0.557000													18	93					0	0	0.055883	0	0
MED1	5469	broad.mit.edu	37	17	37571363	37571363	+	Nonsense_Mutation	SNP	G	G	C	rs1139821		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:37571363G>C	ENST00000300651.6	-	16	1638	c.1415C>G	c.(1414-1416)tCa>tGa	p.S472*	MED1_ENST00000394287.3_Nonsense_Mutation_p.S472*	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	472	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.			DS -> GL (in Ref. 1; CAA73867).	androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CACATGTGTTGAGTCCTGCAC	0.418000										HNSCC(31;0.082)			23	286					0	0	0.069288	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257921	9257921	+	Silent	SNP	A	A	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr18:9257921A>T	ENST00000383440.2	+	8	4844	c.4587A>T	c.(4585-4587)ggA>ggT	p.G1529G	ANKRD12_ENST00000400020.3_Silent_p.G1529G|ANKRD12_ENST00000262126.3_Silent_p.G1552G	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1552						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTGTCCTAGGAGATGTTCAAA	0.338000													10	30					0	0	0.058154	0	0
MEFV	4210	broad.mit.edu	37	16	3293648	3293648	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:3293648G>C	ENST00000219596.1	-	10	1878	c.1839C>G	c.(1837-1839)ttC>ttG	p.F613L	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.F433L|MEFV_ENST00000536379.1_Missense_Mutation_p.F402L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	613	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GATCATCAGAGAAGATGAGGT	0.473000													42	282					0	0	0.033182	0	0
COG3	83548	broad.mit.edu	37	13	46070356	46070356	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr13:46070356A>T	ENST00000349995.5	+	13	1509	c.1397A>T	c.(1396-1398)tAc>tTc	p.Y466F	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	466					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CGGCTCGTCTACCGAACCCAC	0.468000													6	30					0	0	0.021553	0	0
THSD7A	221981	broad.mit.edu	37	7	11676026	11676026	+	Silent	SNP	G	G	C			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr7:11676026G>C	ENST00000423059.3	-	2	1004	c.753C>G	c.(751-753)ctC>ctG	p.L251L		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	251						integral to membrane				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)		GGCTGTACCTGAGCTCCTCGG	0.607000										HNSCC(18;0.044)			15	54					0	0	0.020292	0	0
FLII	2314	broad.mit.edu	37	17	18156755	18156755	+	Silent	SNP	C	C	G			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr17:18156755C>G	ENST00000327031.4	-	9	1098	c.873G>C	c.(871-873)ctG>ctC	p.L291L	FLII_ENST00000545457.2_Silent_p.L237L|FLII_ENST00000379450.4_Silent_p.L206L|FLII_ENST00000584444.1_5'UTR|FLII_ENST00000579294.1_Silent_p.L280L|FLII_ENST00000578558.1_Silent_p.L291L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	291	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCAGCTTGCTCAGCTTGCAAA	0.602000													3	102					0	0	0.014758	0	0
PCNT	5116	broad.mit.edu	37	21	47836599	47836599	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr21:47836599C>T	ENST00000359568.5	+	30	6874	c.6767C>T	c.(6766-6768)gCc>gTc	p.A2256V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2256					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTGTGCAGTGCCGACACATCC	0.692000													5	53					0	0	0.014758	0	0
TTBK1	84630	broad.mit.edu	37	6	43220516	43220516	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr6:43220516G>A	ENST00000259750.4	+	3	231	c.148G>A	c.(148-150)Gag>Aag	p.E50K	TTBK1_ENST00000304139.5_5'UTR	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	50	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGATCTACGAGGCCATGGA	0.592000													7	77					0	0	0.038147	0	0
PAX3	5077	broad.mit.edu	37	2	223066811	223066811	+	Silent	SNP	C	C	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:223066811C>T	ENST00000350526.4	-	8	1408	c.1272G>A	c.(1270-1272)acG>acA	p.T424T	PAX3_ENST00000392069.2_Silent_p.T424T|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000409551.3_Silent_p.T423T|PAX3_ENST00000392070.2_Silent_p.T424T|PAX3_ENST00000344493.4_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	424					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCGACACCGTGGTGGTAG	0.577000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						6	40					0	0	0.021553	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	47					0	0	0.009096	0	0
RIF1	55183	broad.mit.edu	37	2	152319685	152319685	+	Silent	SNP	G	G	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:152319685G>A	ENST00000243326.4	+	29	4134	c.3651G>A	c.(3649-3651)cgG>cgA	p.R1217R	RIF1_ENST00000444746.2_Silent_p.R1217R|RIF1_ENST00000428287.2_Silent_p.R1217R|RIF1_ENST00000430328.2_Silent_p.R1217R|RIF1_ENST00000453091.2_Silent_p.R1217R			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1217					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTACAAGTCGGAGGCAAACCT	0.388000													11	64					0	0	0.080935	0	0
PLCL1	5334	broad.mit.edu	37	2	198948736	198948736	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:198948736G>T	ENST00000428675.1	+	2	893	c.495G>T	c.(493-495)gaG>gaT	p.E165D	PLCL1_ENST00000437704.2_Missense_Mutation_p.E67D	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	165	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E67E(1)|p.E165E(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCATAAAAGAGATCAGACTGG	0.453000													23	67					2.70639e-06	3.67474e-06	0.069288	1	0
HRNR	388697	broad.mit.edu	37	1	152191918	152191918	+	Silent	SNP	G	G	A	rs146453724	byFrequency	TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr1:152191918G>A	ENST00000368801.2	-	3	2262	c.2187C>T	c.(2185-2187)caC>caT	p.H729H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	729					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTAGAGCCGTGTTTTCTGT	0.537000													20	248					0	0	0.043863	0	0
SLC30A3	7781	broad.mit.edu	37	2	27480185	27480186	+	Frame_Shift_Ins	INS	-	-	G	rs148758588		TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:27480185_27480186insG	ENST00000233535.4	-	5	965_966	c.613_614insC	c.(613-615)cagfs	p.Q205fs	SLC30A3_ENST00000447008.2_Frame_Shift_Ins_p.Q200fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	205					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGTGGCTGTGGGGGGGCCCA	0.658													5	9	---	---	---	---					
MED15P9	285103	broad.mit.edu	37	2	130893080	130893081	+	RNA	INS	-	-	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr2:130893080_130893081insA	ENST00000427638.1	+	0	541_542					NR_033903.1																						gactccatctcaaaaaaaaaaa	0.564													3	4	---	---	---	---					
ABHD10	55347	broad.mit.edu	37	3	111710339	111710340	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr3:111710339_111710340insA	ENST00000273359.3	+	5	719_720	c.692_693insA	c.(691-693)tcafs	p.S231fs	ABHD10_ENST00000494817.1_3'UTR|ABHD10_ENST00000534857.1_Frame_Shift_Ins_p.S74fs	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	231						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						CACTGCTTGTTACATAGCCCAA	0.431													20	121	---	---	---	---					
ITGAX	3687	broad.mit.edu	37	16	31373519	31373520	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-6219-01A-11D-1912-08	TCGA-CQ-6219-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6263b94-0ffe-40e7-9184-deb427c67802	266b5bc3-c9cf-433b-9ddd-eb2da0dcabfd	g.chr16:31373519_31373520insA	ENST00000268296.4	+	11	1331_1332	c.1210_1211insA	c.(1210-1212)cctfs	p.P404fs	ITGAX_ENST00000562522.1_Frame_Shift_Ins_p.P404fs	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	404					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAGGGACTCTTACCTGGGTGAG	0.599													15	94	---	---	---	---