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
ADAMTS9	56999	broad.mit.edu	37	3	64619195	64619195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr3:64619195G>A	ENST00000498707.1	-	14	2470	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P682S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	710	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCCACAAGGAGTTCCATCT	0.507000													18	353					0	0	0.000175454	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813315	24813315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr10:24813315G>A	ENST00000376451.2	+	8	1829	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	KIAA1217_ENST00000376454.3_Missense_Mutation_p.M840I|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Missense_Mutation_p.M760I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.M805I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.M523I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.M805I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.M523I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.M523I			Q5T5P2	SKT_HUMAN	KIAA1217	840					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACATGGCTATGGAAAAGGCCA	0.597000													5	71					0	0	3.59834e-05	0	0
TRAF5	7188	broad.mit.edu	37	1	211529807	211529807	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:211529807C>T	ENST00000261464.5	+	4	429	c.375C>T	c.(373-375)taC>taT	p.Y125Y	TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.Y125Y|TRAF5_ENST00000427925.2_Silent_p.Y125Y|TRAF5_ENST00000336184.2_Silent_p.Y125Y	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	125					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGGGCCGGTACCAGGTTGGTA	0.403000													6	73					0	0	3.59834e-05	0	0
RP1L1	94137	broad.mit.edu	37	8	10469909	10469909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr8:10469909C>T	ENST00000382483.3	-	4	1922	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	567					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCGCTGGCCTCCTGCTGAGAG	0.652000													7	104					0	0	0.000157383	0	0
AP3B1	8546	broad.mit.edu	37	5	77409636	77409636	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr5:77409636C>G	ENST00000255194.6	-	19	2364	c.2189G>C	c.(2188-2190)cGg>cCg	p.R730P	AP3B1_ENST00000519295.1_Missense_Mutation_p.R681P	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	730	Glu/Ser-rich.				endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GCCTGACTCCCGTCCACTCTC	0.458000									Hermansky-Pudlak syndrome				4	82					0	0	3.59834e-05	0	0
ZNF99	7652	broad.mit.edu	37	19	22941513	22941513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr19:22941513C>T	ENST00000397104.3	-	5	924	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	ZNF99_ENST00000596209.1_Missense_Mutation_p.E400K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCACATTCTTCACATTTGTAG	0.378000													5	49					0	0	3.59834e-05	0	0
MAP6	4135	broad.mit.edu	37	11	75298569	75298569	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr11:75298569C>T	ENST00000304771.3	-	4	2727	c.1977G>A	c.(1975-1977)aaG>aaA	p.K659K	MAP6_ENST00000526740.1_Silent_p.K330K|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	659	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AACCTTGATTCTTTATGGGTG	0.498000													9	105					0	0	2.17888e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9066073	9066073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr19:9066073G>A	ENST00000397910.4	-	3	21576	c.21373C>T	c.(21373-21375)Cct>Tct	p.P7125S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7127	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTCACAGGAAGAGGAGAG	0.517000													5	92					0	0	3.59834e-05	0	0
CRP	1401	broad.mit.edu	37	1	159683410	159683410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:159683410G>A	ENST00000255030.5	-	2	683	c.580C>T	c.(580-582)Ctt>Ttt	p.L194F	CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368110.1_Missense_Mutation_p.L72F|CRP_ENST00000368111.1_Missense_Mutation_p.L72F|CRP_ENST00000343919.2_Missense_Mutation_p.L72F|CRP_ENST00000437342.1_Missense_Mutation_p.L16F|CRP_ENST00000368112.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	194	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GGCCCGCCAAGATAGATGGTG	0.537000													8	97					0	0	3.86212e-05	0	0
BCAP29	55973	broad.mit.edu	37	7	107240940	107240940	+	Silent	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:107240940G>A	ENST00000379119.2	+	5	593	c.579G>A	c.(577-579)aaG>aaA	p.K193K	BCAP29_ENST00000379117.2_Silent_p.K193K|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000445771.2_Silent_p.K193K|BCAP29_ENST00000005259.4_Silent_p.K193K|BCAP29_ENST00000465919.1_Silent_p.K99K|BCAP29_ENST00000379121.2_Silent_p.K99K	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	193					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		p.K193N(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AATTAAGGAAGACTTCAGATG	0.318000													5	62					0	0	1.23904e-05	0	0
COL4A5	1287	broad.mit.edu	37	X	107816837	107816837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chrX:107816837C>T	ENST00000328300.6	+	9	743	c.499C>T	c.(499-501)Cca>Tca	p.P167S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P167S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	167	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTCATCACTGCCAGGACCAAA	0.368000									Alport syndrome with Diffuse Leiomyomatosis				8	80					0	0	3.86212e-05	0	0
MYH6	4624	broad.mit.edu	37	14	23855728	23855728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr14:23855728C>T	ENST00000405093.3	-	33	4825	c.4755G>A	c.(4753-4755)atG>atA	p.M1585I	MYH6_ENST00000356287.3_Missense_Mutation_p.M1585I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1585					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGCCTGTTCCATCTCCTCGT	0.617000													9	119					0	0	2.17888e-05	0	0
FLG2	388698	broad.mit.edu	37	1	152326043	152326043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:152326043C>T	ENST00000388718.5	-	3	4291	c.4219G>A	c.(4219-4221)Gga>Aga	p.G1407R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1407							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGACTGTCCATGACCAGAG	0.527000													10	157					0	0	6.40141e-05	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536832	146536832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:146536832G>A	ENST00000361727.3	+	3	754	c.238G>A	c.(238-240)Gac>Aac	p.D80N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	80	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATCAGACAGCGACCATTATCA	0.448000										HNSCC(39;0.1)			7	69					0	0	0.000274275	0	0
POLR3B	55703	broad.mit.edu	37	12	106838326	106838326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr12:106838326C>T	ENST00000228347.4	+	19	2263	c.2041C>T	c.(2041-2043)Ccg>Tcg	p.P681S	POLR3B_ENST00000539066.1_Missense_Mutation_p.P623S	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	681					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TAACCAGTCACCGAGAAACAC	0.438000													7	48					0	0	8.12818e-05	0	0
LHCGR	3973	broad.mit.edu	37	2	48915179	48915179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr2:48915179G>A	ENST00000294954.7	-	11	1778	c.1757C>T	c.(1756-1758)tCt>tTt	p.S586F	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.S524F|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.S559F	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	586					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GGCAAAAAAAGAGATAGGTGC	0.383000													5	81					0	0	1.23904e-05	0	0
BRD1	23774	broad.mit.edu	37	22	50217210	50217210	+	Silent	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr22:50217210G>A	ENST00000216267.8	-	1	1242	c.756C>T	c.(754-756)ccC>ccT	p.P252P	BRD1_ENST00000404034.1_Silent_p.P252P|BRD1_ENST00000404760.1_Silent_p.P252P|BRD1_ENST00000457780.2_Silent_p.P252P	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	252					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACTGGCCCTCGGGGATGTAGG	0.637000													5	14					0	0	1.23904e-05	0	0
ATP1A4	480	broad.mit.edu	37	1	160156118	160156118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:160156118G>A	ENST00000368081.4	+	21	3493	c.3022G>A	c.(3022-3024)Gat>Aat	p.D1008N	ATP1A4_ENST00000470705.1_Missense_Mutation_p.D144N	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1008				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCGTCTATGATGAAATCAG	0.562000													12	161					0	0	0.00010058	0	0
TTC5	91875	broad.mit.edu	37	14	20763900	20763900	+	Silent	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr14:20763900G>A	ENST00000258821.3	-	7	866	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	270					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ATCTATCCAGGAATTCCAGAA	0.483000													6	120					0	0	8.12818e-05	0	0
AK9	221264	broad.mit.edu	37	6	109867143	109867143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr6:109867143G>A	ENST00000424296.2	-	26	3228	c.3152C>T	c.(3151-3153)gCt>gTt	p.A1051V	AK9_ENST00000341338.6_Missense_Mutation_p.A130V|AK9_ENST00000355283.1_Missense_Mutation_p.A130V	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TTGTTTGGCAGCTTGCTCGTT	0.353000													10	104					0	0	2.17888e-05	0	0
DNAJC25	548645	broad.mit.edu	37	9	114409479	114409479	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr9:114409479C>T	ENST00000313525.3	+	2	485	c.429C>T	c.(427-429)gcC>gcT	p.A143A	DNAJC25-GNG10_ENST00000374294.3_Intron|DNAJC25_ENST00000556107.1_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	143					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						GGCGCTTGGCCCCTAAGGTGG	0.393000													10	171					0	0	0.000151284	0	0
SLC35F3	148641	broad.mit.edu	37	1	234444858	234444858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:234444858G>A	ENST00000366618.3	+	4	765	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	SLC35F3_ENST00000366617.3_Missense_Mutation_p.R138Q	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	138					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GAATGCTGTCGATTTTTTGGA	0.383000													7	62					0	0	8.12818e-05	0	0
NAB2	4665	broad.mit.edu	37	12	57485290	57485290	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr12:57485290C>G	ENST00000300131.3	+	2	844	c.466C>G	c.(466-468)Cgc>Ggc	p.R156G	NAB2_ENST00000357680.4_Missense_Mutation_p.R156G|NAB2_ENST00000342556.6_Missense_Mutation_p.R156G|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	156					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCAGTGCCCGCAGTTTTAG	0.632000													4	55					0	0	0.00024832	0	0
COL12A1	1303	broad.mit.edu	37	6	75848209	75848209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr6:75848209G>A	ENST00000322507.8	-	29	5494	c.5185C>T	c.(5185-5187)Cct>Tct	p.P1729S	COL12A1_ENST00000483888.2_Missense_Mutation_p.P1729S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P565S|COL12A1_ENST00000416123.2_Missense_Mutation_p.P1729S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1729	Fibronectin type-III 12.			P -> A (in Ref. 1; AAC51244).	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GACTCATCAGGATAGATGGCA	0.378000													8	43					0	0	2.17888e-05	0	0
SEL1L3	23231	broad.mit.edu	37	4	25780805	25780805	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr4:25780805G>T	ENST00000399878.3	-	16	2600	c.2478C>A	c.(2476-2478)ttC>ttA	p.F826L	SEL1L3_ENST00000502949.1_Missense_Mutation_p.F673L|SEL1L3_ENST00000264868.5_Missense_Mutation_p.F791L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	826						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CAGCCTTATGGAAATATTCAC	0.468000													7	123					0.000157383	0.00650046	0.000157383	1	0
EFCAB6	64800	broad.mit.edu	37	22	44067971	44067971	+	Missense_Mutation	SNP	C	C	G	rs145170325		TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr22:44067971C>G	ENST00000262726.7	-	15	1775	c.1522G>C	c.(1522-1524)Gct>Cct	p.A508P	EFCAB6_ENST00000396231.2_Missense_Mutation_p.A356P	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	508	EF-hand 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTATAAAAAGCTTGTAGGTTC	0.363000													8	80					0	0	0.000274275	0	0
BRD9	65980	broad.mit.edu	37	5	865656	865656	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr5:865656C>T	ENST00000323510.4	-	12	1277	c.1278G>A	c.(1276-1278)ttG>ttA	p.L426L	BRD9_ENST00000483173.1_Silent_p.L469L|BRD9_ENST00000388890.4_Silent_p.L406L|BRD9_ENST00000467963.1_Silent_p.L522L			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	522							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CATCCAAGTTCAAATGGCTGT	0.622000													6	108					0	0	8.12818e-05	0	0
LEP	3952	broad.mit.edu	37	7	127894610	127894610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:127894610G>A	ENST00000308868.4	+	3	349	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	100					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						AATATCCAACGACCTGGAGAA	0.567000													6	85					0	0	8.12818e-05	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029318	41029318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr6:41029318G>A	ENST00000244669.2	+	2	427	c.383G>A	c.(382-384)tGt>tAt	p.C128Y		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	128					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCAGCCCCTGTGCAGCGTGT	0.577000													14	139					0	0	5.01169e-05	0	0
ADAM10	102	broad.mit.edu	37	15	58957325	58957325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr15:58957325G>A	ENST00000260408.3	-	5	999	c.556C>T	c.(556-558)Cag>Tag	p.Q186*	ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	186					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCAGTCATCTGGTATTTCCTC	0.363000													8	163					0	0	2.17888e-05	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652235	45652235	+	RNA	SNP	C	C	G	rs149362183		TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr10:45652235C>G	ENST00000427229.2	+	0	1749																											GAAGGAACATCTGAAGGAACA	0.478000													4	20					0	0	1.23904e-05	0	0
GPANK1	7918	broad.mit.edu	37	6	31630171	31630171	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr6:31630171G>C	ENST00000375906.1	-	4	1627	c.943C>G	c.(943-945)Cga>Gga	p.R315G	GPANK1_ENST00000375896.4_Missense_Mutation_p.R315G|GPANK1_ENST00000375895.2_Missense_Mutation_p.R315G|GPANK1_ENST00000375893.2_Missense_Mutation_p.R315G|GPANK1_ENST00000375900.4_Missense_Mutation_p.R315G	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	315						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GCCACAGCTCGGGTATCCCAA	0.617000													7	268					0	0	0.000157383	0	0
SEL1L3	23231	broad.mit.edu	37	4	25780745	25780745	+	Silent	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr4:25780745G>A	ENST00000399878.3	-	16	2660	c.2538C>T	c.(2536-2538)atC>atT	p.I846I	SEL1L3_ENST00000502949.1_Silent_p.I693I|SEL1L3_ENST00000264868.5_Silent_p.I811I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	846						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GGTTGCCTGTGATATAGTAGA	0.438000													6	103					0	0	8.12818e-05	0	0
MYOF	26509	broad.mit.edu	37	10	95097623	95097623	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr10:95097623C>T	ENST00000371501.4	-	40	4508	c.4386G>A	c.(4384-4386)ggG>ggA	p.G1462G	MYOF_ENST00000358334.5_Silent_p.G1449G|MYOF_ENST00000359263.4_Silent_p.G1462G|MYOF_ENST00000371502.4_Silent_p.G1481G			Q9NZM1	MYOF_HUMAN	myoferlin	1462					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTCATGTTCCCCTGAGGAAG	0.413000													5	97					0	0	1.23904e-05	0	0
RPL32	6161	broad.mit.edu	37	3	12880913	12880913	+	Silent	SNP	G	G	C			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr3:12880913G>C	ENST00000429711.2	-	3	312	c.213C>G	c.(211-213)ccC>ccG	p.P71P	RPL32_ENST00000396957.1_Silent_p.P71P|RPL32_ENST00000435983.1_Silent_p.P71P|RPL32_ENST00000273223.6_Silent_p.P89P|RPL32_ENST00000396953.2_Silent_p.P71P	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	71					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GGAAGCCACTGGGCAGCATGT	0.493000													5	162					0	0	1.23904e-05	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999214	27999214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chrX:27999214C>T	ENST00000441525.1	-	1	352	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	80	Glu-rich.							p.E80K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTTTCAAGTTCGACGTCTTCA	0.488000													12	57					0	0	0.000151284	0	0
MROH8	140699	broad.mit.edu	37	20	35743589	35743589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr20:35743589G>A	ENST00000400441.3	-	19	2521	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F	MROH8_ENST00000217333.8_Missense_Mutation_p.S670F|MROH8_ENST00000441008.2_Missense_Mutation_p.S827F					maestro heat-like repeat family member 8																		ACCAAATAAGGAGAACAGGGT	0.438000													7	57					0	0	8.12818e-05	0	0
RNF213	57674	broad.mit.edu	37	17	78337016	78337016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr17:78337016C>T	ENST00000582970.1	+	40	11613	c.11470C>T	c.(11470-11472)Cgt>Tgt	p.R3824C	RNF213_ENST00000336301.6_Missense_Mutation_p.R1897C|RNF213_ENST00000508628.2_Missense_Mutation_p.R3873C|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTCAGAAGCCGTCTGCAGAA	0.552000													5	82					0	0	8.12818e-05	0	0
TSGA13	114960	broad.mit.edu	37	7	130353979	130353979	+	Silent	SNP	G	G	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:130353979G>T	ENST00000456951.1	-	9	1554	c.703C>A	c.(703-705)Cgg>Agg	p.R235R	TSGA13_ENST00000356588.3_Silent_p.R235R			Q96PP4	TSG13_HUMAN	testis specific, 13	235										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AGTGGTTCCCGAATCACTTTG	0.562000													16	278					3.51602e-12	1.48562e-10	0.000132079	1	0
PPM1J	333926	broad.mit.edu	37	1	113253414	113253414	+	Silent	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:113253414G>A	ENST00000464951.1	-	9	1960	c.552C>T	c.(550-552)gtC>gtT	p.V184V	PPM1J_ENST00000359994.4_Silent_p.V184V|RP11-426L16.10_ENST00000471038.2_5'UTR|RP11-426L16.10_ENST00000606505.1_Silent_p.L72L|PPM1J_ENST00000309276.6_Silent_p.V390V			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	390	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAACTGCAGACCTTAAGGC	0.577000													4	64					0	0	3.59834e-05	0	0
CYP2D7	1564	broad.mit.edu	37	22	42537677	42537677	+	RNA	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr22:42537677C>T	ENST00000435101.1	-	0	65				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						TCTCAGGGCTCCCCTTGGCCT	0.612000													6	16					0	0	8.12818e-05	0	0
ABCA13	154664	broad.mit.edu	37	7	48556372	48556372	+	Silent	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:48556372G>A	ENST00000435803.1	+	52	13716	c.13692G>A	c.(13690-13692)tcG>tcA	p.S4564S	ABCA13_ENST00000544596.1_Silent_p.S294S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4564					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTCCAGTTCGGACGTGGCTT	0.398000													10	240					0	0	6.40141e-05	0	0
KLHL28	54813	broad.mit.edu	37	14	45403424	45403424	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr14:45403424A>C	ENST00000396128.4	-	3	1356	c.1237T>G	c.(1237-1239)Tgg>Ggg	p.W413G	KLHL28_ENST00000355081.2_Missense_Mutation_p.W427G	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	413										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACAGGTTGCCATTTTCTTATT	0.418000													5	65					0	0	1.23904e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	87					0	0	0.00010058	0	0
MXRA5	25878	broad.mit.edu	37	X	3240756	3240756	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chrX:3240756C>T	ENST00000217939.6	-	5	3124	c.2970G>A	c.(2968-2970)gaG>gaA	p.E990E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	990						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCATCTTATCCTCATCTGGTT	0.458000													4	55					0	0	0.00024832	0	0
POP1	10940	broad.mit.edu	37	8	99146830	99146830	+	Silent	SNP	G	G	C			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr8:99146830G>C	ENST00000401707.2	+	7	1035	c.954G>C	c.(952-954)ccG>ccC	p.P318P	POP1_ENST00000349693.3_Silent_p.P318P	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	318					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AGAGGACCCCGGGTGACCCTT	0.502000													4	74					0	0	8.12818e-05	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651734	8651734	+	Silent	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr19:8651734G>A	ENST00000270328.4	-	18	2471	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	ADAMTS10_ENST00000597188.1_Silent_p.F735F|ADAMTS10_ENST00000595838.1_Silent_p.F222F			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	735	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GATCCTGGATGAAGATGTGGA	0.562000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	65					0	0	3.59834e-05	0	0
ABCA4	24	broad.mit.edu	37	1	94568628	94568628	+	Silent	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:94568628G>A	ENST00000370225.3	-	5	599	c.513C>T	c.(511-513)atC>atT	p.I171I	ABCA4_ENST00000535735.1_Silent_p.I171I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	171					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAGACAGGCCGATGTTTTTAA	0.463000													11	161					0	0	0.00010058	0	0
CCR8	1237	broad.mit.edu	37	3	39373990	39373990	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr3:39373990C>T	ENST00000326306.4	+	2	306	c.168C>T	c.(166-168)gtC>gtT	p.V56V	CCR8_ENST00000414803.1_Intron|CCR8_ENST00000545843.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	56					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ACAGCCTGGTCATCCTGGTCC	0.493000													12	188					0	0	0.000151284	0	0
SDHAP1	255812	broad.mit.edu	37	3	195690149	195690149	+	RNA	SNP	A	A	G			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr3:195690149A>G	ENST00000427841.1	-	0	2325					NR_003264.2																						TGACACATGCATGAGCTATTA	0.498000													3	6					0	0	6.4e-05	0	0
ATP2B1	490	broad.mit.edu	37	12	90005120	90005120	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr12:90005120C>T	ENST00000428670.3	-	13	2553	c.2097G>A	c.(2095-2097)agG>agA	p.R699R	ATP2B1_ENST00000393164.2_Silent_p.R442R|ATP2B1_ENST00000348959.3_Silent_p.R699R|ATP2B1_ENST00000359142.3_Silent_p.R699R|ATP2B1_ENST00000261173.2_Silent_p.R699R			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	699					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TAATTCCAGCCCTCTGACACT	0.358000													9	221					0	0	0.00010058	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	86					0	0	0.00010058	0	0
SORBS3	10174	broad.mit.edu	37	8	22429260	22429260	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr8:22429260C>T	ENST00000240123.7	+	19	2156	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S	SORBS3_ENST00000428103.1_Silent_p.S249S	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	591					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CAGCTCTGTCCCACTCTCGAG	0.572000													4	50					0	0	3.59834e-05	0	0
SLC6A6	6533	broad.mit.edu	37	3	14485161	14485161	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr3:14485161C>T	ENST00000454876.2	+	3	348	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	SLC6A6_ENST00000416216.2_Silent_p.L7L|SLC6A6_ENST00000484191.1_Intron|SLC6A6_ENST00000360861.3_Silent_p.L7L			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	7					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CAAGGAGAAGCTGCAGTGTCT	0.552000													5	72					0	0	8.12818e-05	0	0
CDC25C	995	broad.mit.edu	37	5	137665315	137665315	+	Silent	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr5:137665315G>A	ENST00000323760.6	-	3	494	c.216C>T	c.(214-216)ctC>ctT	p.L72L	CDC25C_ENST00000415130.2_Intron|CDC25C_ENST00000348983.3_Intron|CDC25C_ENST00000356505.3_Silent_p.L72L|CDC25C_ENST00000514555.1_Silent_p.L72L|CDC25C_ENST00000513970.1_Silent_p.L72L|CDC25C_ENST00000357274.3_Intron	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	72					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCGAAAGATCGAGGCAACGTT	0.423000													7	97					0	0	2.17888e-05	0	0
ITIH5	80760	broad.mit.edu	37	10	7682790	7682790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr10:7682790C>T	ENST00000256861.6	-	4	406	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ITIH5_ENST00000397146.2_Missense_Mutation_p.E110K|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.E110K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	110	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTGTAATTTCGCCCTGATAC	0.373000													8	109					0	0	2.17888e-05	0	0
CASR	846	broad.mit.edu	37	3	122002629	122002629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr3:122002629G>A	ENST00000498619.1	+	7	2296	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	CASR_ENST00000296154.5_Missense_Mutation_p.E610K|CASR_ENST00000490131.1_Missense_Mutation_p.E610K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	610					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTCGTGGACGGAGCCCTTTGG	0.527000													5	52					0	0	1.23904e-05	0	0
NME8	51314	broad.mit.edu	37	7	37901707	37901707	+	Silent	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:37901707G>A	ENST00000199447.4	+	7	720	c.348G>A	c.(346-348)gaG>gaA	p.E116E	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.E116E	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	116	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TGATCGATGAGGAGAGAAAAA	0.348000													8	47					0	0	2.17888e-05	0	0
SPNS3	201305	broad.mit.edu	37	17	4352591	4352591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr17:4352591G>A	ENST00000355530.2	+	7	1112	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	SPNS3_ENST00000333476.2_Missense_Mutation_p.G151R|SPNS3_ENST00000576069.1_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	278					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TGGAGCCCTGGGGTTCTGGGC	0.657000													4	47					0	0	1.23904e-05	0	0
IL2RB	3560	broad.mit.edu	37	22	37531454	37531454	+	Silent	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr22:37531454G>A	ENST00000216223.5	-	8	930	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	244					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGAGGTGGCCGAGCCACGGAA	0.592000													30	69					0	0	0.000228196	0	0
ATP12A	479	broad.mit.edu	37	13	25264842	25264842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr13:25264842C>T	ENST00000218548.6	+	7	1115	c.782C>T	c.(781-783)tCc>tTc	p.S261F	ATP12A_ENST00000381946.3_Missense_Mutation_p.S261F	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	261					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGCTTCTATTCCACAACGTGT	0.547000													9	180					0	0	3.86212e-05	0	0
CSMD2	114784	broad.mit.edu	37	1	34038107	34038107	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:34038107G>A	ENST00000373381.4	-	50	7937	c.7762_splice	c.e50+1	p.V2587_splice		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2589	Sushi 15.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGACTCACGGACACACTGTG	0.582000													5	89					0	0	3.59834e-05	0	0
C12orf40	283461	broad.mit.edu	37	12	40076667	40076667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr12:40076667G>A	ENST00000324616.5	+	8	1095	c.941G>A	c.(940-942)aGg>aAg	p.R314K	C12orf40_ENST00000398716.1_Missense_Mutation_p.R237K|C12orf40_ENST00000405531.3_Missense_Mutation_p.R314K	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	314										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GATGAGCAAAGGATAAAGAAA	0.333000													5	56					0	0	1.23904e-05	0	0
MARK3	4140	broad.mit.edu	37	14	103932348	103932348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr14:103932348C>T	ENST00000429436.2	+	9	1327	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	MARK3_ENST00000335102.5_Missense_Mutation_p.P296S|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000303622.9_Missense_Mutation_p.P273S|MARK3_ENST00000216288.7_Missense_Mutation_p.P273S|MARK3_ENST00000416682.2_Missense_Mutation_p.P296S|MARK3_ENST00000553942.1_Missense_Mutation_p.P273S|MARK3_ENST00000440884.3_Missense_Mutation_p.P194S	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	273	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			ATACAGAATTCCCTTCTACAT	0.398000													9	86					0	0	0.000274275	0	0
CACHD1	57685	broad.mit.edu	37	1	65120413	65120413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:65120413C>T	ENST00000371073.2	+	12	1709	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.S519F			Q5VU97	CAHD1_HUMAN	cache domain containing 1	570					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTGAACTCATCCCTGTCTTGG	0.433000													8	118					0	0	0.000274275	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188156	72188156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr16:72188156G>A	ENST00000537465.1	-	4	526	c.368C>T	c.(367-369)tCc>tTc	p.S123F	PMFBP1_ENST00000237353.10_Missense_Mutation_p.S123F|PMFBP1_ENST00000355636.6_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	123										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AACCAGGTCGGAAGTCTGCTT	0.443000													6	108					0	0	3.59834e-05	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765024	77765024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr8:77765024C>T	ENST00000521891.2	+	10	6315	c.5867C>T	c.(5866-5868)tCc>tTc	p.S1956F	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1911F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1911F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1930F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1911	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATTGTTTTCCAATGTTCTT	0.393000										HNSCC(33;0.089)			7	69					0	0	2.17888e-05	0	0
ARAP2	116984	broad.mit.edu	37	4	36179539	36179539	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr4:36179539C>T	ENST00000303965.4	-	9	2256	c.1767G>A	c.(1765-1767)gaG>gaA	p.E589E		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	589	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATCCACATTTCTCAGGTGTAA	0.398000													5	106					0	0	1.23904e-05	0	0
SNRNP200	23020	broad.mit.edu	37	2	96942933	96942933	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr2:96942933C>A	ENST00000323853.5	-	42	6055	c.5978G>T	c.(5977-5979)cGg>cTg	p.R1993L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1993	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CAACGCGTTCCGTTCTTCATC	0.483000													5	113					8.12818e-05	0.00339536	8.12818e-05	1	0
TNR	7143	broad.mit.edu	37	1	175336410	175336410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:175336410C>T	ENST00000367674.1	-	10	2695	c.1987G>A	c.(1987-1989)Gga>Aga	p.G663R	TNR_ENST00000263525.2_Missense_Mutation_p.G663R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	663	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATTCCAACTCCATACTCAGTG	0.498000													7	65					0	0	0.000157383	0	0
RASD2	23551	broad.mit.edu	37	22	35947611	35947611	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr22:35947611C>T	ENST00000216127.4	+	3	975	c.333C>T	c.(331-333)cgC>cgT	p.R111R		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	111					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AGGTCAAGCGCCTTCAGAAGC	0.582000													7	86					0	0	0.000157383	0	0
GPR116	221395	broad.mit.edu	37	6	46851855	46851855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr6:46851855C>T	ENST00000283296.7	-	5	770	c.482G>A	c.(481-483)gGa>gAa	p.G161E	GPR116_ENST00000456426.2_Missense_Mutation_p.G161E|GPR116_ENST00000265417.7_Missense_Mutation_p.G161E|GPR116_ENST00000362015.4_Missense_Mutation_p.G161E	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	161					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCAAAAAGGTCCATTGGGAGG	0.493000													6	98					0	0	8.12818e-05	0	0
MYO5C	55930	broad.mit.edu	37	15	52529725	52529725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr15:52529725C>T	ENST00000261839.7	-	22	2983	c.2822G>A	c.(2821-2823)cGa>cAa	p.R941Q	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	941						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCGTAATTTCGCCTGTGAGT	0.522000													10	271					0	0	3.86212e-05	0	0
SLC12A9	56996	broad.mit.edu	37	7	100454734	100454734	+	Silent	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr7:100454734C>T	ENST00000354161.3	+	5	818	c.693C>T	c.(691-693)tcC>tcT	p.S231S	SLC12A9_ENST00000428758.1_Silent_p.S231S|SLC12A9_ENST00000275729.3_Silent_p.S142S|SLC12A9_ENST00000415287.1_Silent_p.S142S|SLC12A9_ENST00000540482.1_Silent_p.S231S	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	231				S -> A (in Ref. 3; BAB40456).		integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATGGCTCCTCCCTGCCGCCCC	0.642000													13	91					0	0	0.000422831	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919327	21919327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr12:21919327C>T	ENST00000240662.2	-	3	950	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	202						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CTTGCCATTTCGGACGGCAAT	0.478000													6	106					0	0	3.59834e-05	0	0
TUFT1	7286	broad.mit.edu	37	1	151553422	151553422	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr1:151553422T>C	ENST00000368849.3	+	12	1075	c.1013T>C	c.(1012-1014)tTa>tCa	p.L338S	TUFT1_ENST00000392712.3_Missense_Mutation_p.L283S|TUFT1_ENST00000538902.1_Missense_Mutation_p.L357S|TUFT1_ENST00000353024.3_Missense_Mutation_p.L279S|TUFT1_ENST00000368848.2_Missense_Mutation_p.L313S	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	338					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTACAGAATTTAGAGATGCAT	0.512000													5	47					0	0	1.23904e-05	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158980374	158980374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr3:158980374G>A	ENST00000485419.1	+	4	362	c.193G>A	c.(193-195)Gag>Aag	p.E65K	IQCJ_ENST00000397832.2_Missense_Mutation_p.E65K|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.E38K|IQCJ_ENST00000451172.1_Missense_Mutation_p.E65K|IQCJ_ENST00000482126.1_Missense_Mutation_p.E38K	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0	Ser-rich.					cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GCAGCGGCAGGAGCCCCTGGG	0.537000													6	73					0	0	8.12818e-05	0	0
RABL6	55684	broad.mit.edu	37	9	139734209	139734209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr9:139734209C>T	ENST00000371675.3	+	13	2362	c.1477C>T	c.(1477-1479)Ccg>Tcg	p.P493S	RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Missense_Mutation_p.P609S|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_Missense_Mutation_p.P608S					RAB, member RAS oncogene family-like 6																		CCCTGCCGAGCCGCCCCCACC	0.652000													6	36					0	0	0.000157383	0	0
ADAM19	8728	broad.mit.edu	37	5	156915277	156915277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr5:156915277G>A	ENST00000257527.4	-	21	2624	c.2546C>T	c.(2545-2547)tCc>tTc	p.S849F	ADAM19_ENST00000430702.2_Missense_Mutation_p.S582F|ADAM19_ENST00000517905.1_Missense_Mutation_p.S849F|ADAM19_ENST00000394020.1_Missense_Mutation_p.S851F	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	849					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTTACCTGGGAAACGATGCA	0.552000													5	123					0	0	8.12818e-05	0	0
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)ggfs	p.R298fs	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL								10	178	---	---	---	---					
RAPGEF3	10411	broad.mit.edu	37	12	48134465	48134465	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2ME-06A-11D-A197-08	TCGA-EE-A2ME-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b768bb3-0f40-4421-b3b6-9b38680ccfbc	b757fe4a-ff9a-4332-b5d9-70d1e711478b	g.chr12:48134465delG	ENST00000405493.2	-	21	2274	c.2065delC	c.(2065-2067)ggfs	p.R689fs	RAPGEF3_ENST00000389212.3_Frame_Shift_Del_p.R731fs|RAPGEF3_ENST00000549151.1_Frame_Shift_Del_p.R689fs|RAPGEF3_ENST00000548919.1_Frame_Shift_Del_p.R640fs|RAPGEF3_ENST00000171000.4_Frame_Shift_Del_p.R689fs|RAPGEF3_ENST00000449771.2_Frame_Shift_Del_p.R731fs|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	689					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGCTGGGCCCGGGGGCCGGGC	0.652													7	41	---	---	---	---					
