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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
TREX1	11277	broad.mit.edu	37	3	48508560	48508560	+	Nonsense_Mutation	SNP	C	G	G			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr3:48508560C>G	uc003ctj.3	+	1	1928	c.671C>G	c.(670-672)tCa>tGa	p.S224*	TREX1_uc010hjy.3_Nonsense_Mutation_p.S169*|TREX1_uc010hjz.3_Nonsense_Mutation_p.S169*|TREX1_uc003ctk.3_Nonsense_Mutation_p.S30*|TREX1_uc010hka.3_Nonsense_Mutation_p.S224*	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	224					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGCAGCCCCTCAGAACACGGC	0.612													0	4.67E-03	0	0	0	99	3
RAPGEF6	51735	broad.mit.edu	37	5	131008166	131008166	+	Silent	SNP	T	C	C			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:131008166T>C	uc003kvs.1	-	13	2113	c.1971A>G	c.(1969-1971)gaA>gaG	p.E657E	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.E629E|RAPGEF6_uc010jdm.1_Silent_p.E612E	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CAGCATTTTCTTCTTGGCAGT	0.393													0	6.92E-02	0	0	0	323	11
ZSCAN5A	79149	broad.mit.edu	37	19	56736373	56736373	+	Missense_Mutation	SNP	A	T	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr19:56736373A>T	uc002qmq.3	-	1	209	c.43T>A	c.(43-45)Tgc>Agc	p.C15S	ZSCAN5A_uc010ygi.2_Intron|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.C15S|ZSCAN5A_uc002qms.1_Missense_Mutation_p.C15S	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	15					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTCTGTTGCAGGATTCTCCT	0.468													0	3.81E-02	0	0	0	99	8
BATF	10538	broad.mit.edu	37	14	76012817	76012817	+	Silent	SNP	C	T	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr14:76012817C>T	uc001xrr.3	+	2	423	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	61	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GAGCGAAGACCTGGAGAAACA	0.597													0	3.81E-02	0	0	0	65	7
SLC6A18	348932	broad.mit.edu	37	5	1232375	1232375	+	Missense_Mutation	SNP	G	A	A			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:1232375G>A	uc003jby.2	+	1	325	c.202G>A	c.(202-204)Ggg>Agg	p.G68R		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	68					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTCTTCGAGGGGATCCCCAT	0.687													0	9.99E-02	0	0	0	16	20
PDK3	5165	broad.mit.edu	37	X	24483609	24483609	+	Missense_Mutation	SNP	C	T	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chrX:24483609C>T	uc004dbg.3	+	0	266	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	PDK3_uc004dbh.3_Missense_Mutation_p.P13S	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	13					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCAGCCGGTGCCCAAGCAGAT	0.687													0	3.81E-02	0	0	0	16	8
MATR3	9782	broad.mit.edu	37	5	138643134	138643134	+	Silent	SNP	C	T	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:138643134C>T	uc003ldw.3	+	2	433	c.30C>T	c.(28-30)ctC>ctT	p.L10L	MATR3_uc003lds.3_Silent_p.L10L|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Silent_p.L10L|MATR3_uc010jfb.3_Silent_p.L10L|MATR3_uc003ldx.3_Silent_p.L10L|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Silent_p.L10L|MATR3_uc011czb.2_Intron	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	10						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTCATCTCTCAGTAGGGACT	0.428													0	3.81E-02	0	0	0	193	8
PLCE1	51196	broad.mit.edu	37	10	96066243	96066243	+	Silent	SNP	C	T	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr10:96066243C>T	uc001kjk.3	+	25	6316	c.5682C>T	c.(5680-5682)gtC>gtT	p.V1894V	PLCE1_uc010qnx.2_Silent_p.V1878V|PLCE1_uc001kjm.3_Silent_p.V1586V|PLCE1_uc001kjp.3_Silent_p.V252V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1894	C2.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCATTGAAGTCGACGTCCTGG	0.537													0	1.08E-01	0	0	0	183	29
PCSK1	5122	broad.mit.edu	37	5	95748058	95748058	+	Silent	SNP	C	T	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:95748058C>T	uc003kls.2	-	6	1085	c.846G>A	c.(844-846)cgG>cgA	p.R282R	PCSK1_uc010jbi.2_Silent_p.R43R|PCSK1_uc021ybq.1_Silent_p.R235R	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	282	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGGGCTAGCCGGCCAGGCC	0.478													0	1.48E-02	0	0	0	127	4
DMRT3	58524	broad.mit.edu	37	9	990617	990617	+	Missense_Mutation	SNP	C	T	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr9:990617C>T	uc003zgw.1	+	1	1069	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	344					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGGTTTTCTGCCGACTCTAGC	0.582													0	1.48E-02	0	0	0	158	4
DNAJC21	134218	broad.mit.edu	37	5	34954066	34954066	+	Missense_Mutation	SNP	T	C	C			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:34954066T>C	uc003jjb.3	+	11	1756	c.1529T>C	c.(1528-1530)aTg>aCg	p.M510T	DNAJC21_uc003jjc.3_Missense_Mutation_p.M465T|DNAJC21_uc010iuu.1_Missense_Mutation_p.M362T	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	465					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACCAAAGATATGAAAAAACCT	0.318													0	1.48E-02	0	0	0	127	4
ADAM21	8747	broad.mit.edu	37	14	70924858	70924858	+	Silent	SNP	T	A	A			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr14:70924858T>A	uc021rvq.1	+	0	642	c.642T>A	c.(640-642)gtT>gtA	p.V214V	ADAM21_uc001xmd.3_Silent_p.V214V	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	214	Peptidase M12B.|Poly-Val.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGCTAGTTGTTGTGGTGAACC	0.433													0	4.90E-02	0	0	0	79	71
GRB10	2887	broad.mit.edu	37	7	50674044	50674044	+	Missense_Mutation	SNP	G	A	A			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:50674044G>A	uc003tpi.2	-	10	1308	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	GRB10_uc003tph.3_Missense_Mutation_p.S363L|GRB10_uc003tpj.2_Missense_Mutation_p.S375L|GRB10_uc003tpk.2_Missense_Mutation_p.S421L|GRB10_uc010kzb.2_Missense_Mutation_p.S363L|GRB10_uc003tpl.2_Missense_Mutation_p.S415L|GRB10_uc003tpm.2_Missense_Mutation_p.S363L	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	421					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACTGGCGTCGAGAACGGGGA	0.527									Russell-Silver syndrome				0	6.92E-02	0	0	0	209	10
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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	0.368	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				0	4.90E-02	0	0	0	77	58
GLTSCR2	29997	broad.mit.edu	37	19	48254336	48254336	+	Silent	SNP	G	A	A			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr19:48254336G>A	uc002phm.2	+	3	594	c.570G>A	c.(568-570)cgG>cgA	p.R190R	GLTSCR2_uc010elk.1_5'Flank	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	190				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCGTAGAGCGGCCCTTCTACG	0.647													0	2.42E-02	0	0	0	16	11
CCL23	6368	broad.mit.edu	37	17	34340319	34340319	+	Missense_Mutation	SNP	C	T	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr17:34340319C>T	uc002hkt.1	-	3	352	c.281G>A	c.(280-282)tGt>tAt	p.C94Y	CCL23_uc002hks.1_Missense_Mutation_p.C111Y	NM_145898	NP_665905	P55773	CCL23_HUMAN	Homo sapiens chemokine (C-C motif) ligand 23 (CCL23), transcript variant CKbeta8, mRNA.	94					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	GGGGTTGGCACAGAAACGTCG	0.522													0	6.24E-02	0	0	0	24	20
SLC46A1	113235	broad.mit.edu	37	17	26733056	26733056	+	Missense_Mutation	SNP	T	G	G			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr17:26733056T>G	uc002hbf.2	-	0	175	c.77A>C	c.(76-78)gAg>gCg	p.E26A	SLC46A1_uc021ttr.1_Missense_Mutation_p.E26A|SLC46A1_uc010wak.2_Missense_Mutation_p.E26A	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA.	26					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GACCAGCGGCTCTACCGGGCC	0.716													0	3.81E-02	0	0	0	9	6
PIK3C2G	5288	broad.mit.edu	37	12	18499700	18499700	+	Missense_Mutation	SNP	C	T	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr12:18499700C>T	uc001rdt.3	+	10	1671	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.P519S|PIK3C2G_uc010sic.2_Missense_Mutation_p.P297S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	519					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTATCTAAATCCCGGGCTTCC	0.448													0	9.22E-02	0	0	0	57	41
MAGI2	9863	broad.mit.edu	37	7	77973161	77973161	+	Missense_Mutation	SNP	C	T	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:77973161C>T	uc003ugx.3	-	8	1596	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	MAGI2_uc003ugy.3_Missense_Mutation_p.E448K|MAGI2_uc010ldx.1_Missense_Mutation_p.E57K|MAGI2_uc010ldy.1_Missense_Mutation_p.E57K|MAGI2_uc011kgr.1_Missense_Mutation_p.E280K|MAGI2_uc011kgs.1_Missense_Mutation_p.E285K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	448	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCAGAAACTCATCAGGCTCG	0.473													0	4.55E-02	0	0	0	55	43
SLC6A3	6531	broad.mit.edu	37	5	1443103	1443103	+	Silent	SNP	G	C	C			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:1443103G>C	uc003jck.3	-	1	336	c.210C>G	c.(208-210)ctC>ctG	p.L70L		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	70					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGACGGACAGGAGAAAGTCGA	0.612													0	9.10E-03	0	0	0	121	4
