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
DNAH9	1770	broad.mit.edu	37	17	11687720	11687720	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr17:11687720C>T	ENST00000262442.3	+	41	7993	c.7925C>T	c.(7924-7926)gCg>gTg	p.A2642V	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2642	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A2642V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTCCCGGCGTCCCTGCAG	0.547000													76	99					0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1420422	1420422	+	Silent	SNP	C	C	T	rs148146515		TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:1420422C>T	ENST00000308647.7	+	8	893	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	259							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGCTGGCTGTCGGGGTCTACT	0.682000													3	21					0	0	1	0	0
NIPA1	123606	broad.mit.edu	37	15	23048861	23048861	+	Missense_Mutation	SNP	C	C	G			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr15:23048861C>G	ENST00000437912.2	-	5	2030	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	NIPA1_ENST00000561183.1_Missense_Mutation_p.E245Q|NIPA1_ENST00000538684.1_Missense_Mutation_p.E150Q|NIPA1_ENST00000337435.4_Missense_Mutation_p.E320Q			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	320					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TTGTTCATCTCCCCAAGGTTG	0.478000													12	31					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946336	16946336	+	RNA	SNP	G	G	A	rs11586784	by1000genomes	TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:16946336G>A	ENST00000412962.1	-	0	1183																											CAGGGCTCACGAACCTGCTGC	0.662000													3	19					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24880401	24880401	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr14:24880401G>A	ENST00000382554.3	+	5	2852	c.2534G>A	c.(2533-2535)cGg>cAg	p.R845Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	845					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGAAGAACCGGAGGGTGAGA	0.597000											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	141					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18840835	18840835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr10:18840835C>A	ENST00000377304.4	-	9	1406	c.988G>T	c.(988-990)Gga>Tga	p.G330*		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	330							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GGTCTCTGTCCCATTCCACTA	0.428000													24	56					6.32553e-13	6.90058e-13	1	1	0
ZNF275	10838	broad.mit.edu	37	X	152613380	152613380	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chrX:152613380G>A	ENST00000421401.3	+	4	1414	c.1237G>A	c.(1237-1239)Gtg>Atg	p.V413M	ZNF275_ENST00000370251.2_3'UTR|ZNF275_ENST00000440091.1_Missense_Mutation_p.V443M|ZNF275_ENST00000370249.2_Missense_Mutation_p.V360M	NM_001080485.3	NP_001073954.3	A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	301						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGGCCGCGTGTTCAAGAG	0.682000													5	5					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66379023	66379023	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:66379023C>T	ENST00000329654.4	+	2	213	c.26C>T	c.(25-27)aCg>aTg	p.T9M	PDE4B_ENST00000371049.3_Missense_Mutation_p.T9M	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	9					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	AGTGTGATGACGGTGATGGCT	0.403000													14	24					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													7	105					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													4	52					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71300716	71300716	+	Splice_Site	SNP	A	A	G			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr15:71300716A>G	ENST00000260382.5	+	12	1429		c.e12-1		LRRC49_ENST00000436542.2_Splice_Site|LRRC49_ENST00000560158.2_Splice_Site|LRRC49_ENST00000544974.2_Splice_Site|LRRC49_ENST00000560691.1_Splice_Site|LRRC49_ENST00000443425.2_Splice_Site|LRRC49_ENST00000560369.1_Splice_Site	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49							cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGGGTTTTCCAGGCCTCTAGA	0.363000													4	37					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													5	20					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62203750	62203750	+	Missense_Mutation	SNP	A	A	G			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr14:62203750A>G	ENST00000394997.1	+	9	1440	c.1175A>G	c.(1174-1176)aAg>aGg	p.K392R	RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.K332R|HIF1A_ENST00000323441.6_Missense_Mutation_p.K391R|HIF1A_ENST00000539097.1_Missense_Mutation_p.K415R|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000337138.4_Missense_Mutation_p.K391R			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	391	Interaction with TSGA10 (By similarity).|N-terminal VHL recognition site.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		GACAAACTTAAGAAGGAACCT	0.393000													19	25					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29121246	29121246	+	Missense_Mutation	SNP	G	G	C			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr22:29121246G>C	ENST00000382580.2	-	4	633	c.558C>G	c.(556-558)caC>caG	p.H186Q	CHEK2_ENST00000348295.3_Missense_Mutation_p.H143Q|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000402731.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000405598.1_Missense_Mutation_p.H143Q|CHEK2_ENST00000328354.6_Missense_Mutation_p.H143Q|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_5'UTR	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	143					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AAATCCGAAAGTGTTTCTTGC	0.373000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					39	5					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	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				16	37					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43601916	43601916	+	Silent	SNP	C	C	T			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr10:43601916C>T	ENST00000355710.3	+	5	1192	c.960C>T	c.(958-960)ccC>ccT	p.P320P	RET_ENST00000340058.5_Silent_p.P320P	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	320					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGCTGCTCCCCGGGGACACCT	0.657000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				13	16					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157718364	157718364	+	Missense_Mutation	SNP	T	T	C			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:157718364T>C	ENST00000361516.3	-	10	1486	c.1438A>G	c.(1438-1440)Atg>Gtg	p.M480V	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	480					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCTGCTGCATGCTCCAGACC	0.458000													47	31					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691756	49691756	+	Silent	SNP	C	C	G			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr3:49691756C>G	ENST00000296452.4	+	5	4881	c.4767C>G	c.(4765-4767)ccC>ccG	p.P1589P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1589					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAACCCAGCCCACCACCCATG	0.627000													26	50					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100230955	100230955	+	Missense_Mutation	SNP	G	G	C			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr7:100230955G>C	ENST00000462107.1	-	6	910	c.623C>G	c.(622-624)cCc>cGc	p.P208R	TFR2_ENST00000223051.3_Missense_Mutation_p.P208R|TFR2_ENST00000431692.1_Missense_Mutation_p.P208R			Q9UP52	TFR2_HUMAN	transferrin receptor 2	208					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGGGTGTTGGGGTGAGCCCT	0.731000													13	15					0	0	1	0	0
TTPA	7274	broad.mit.edu	37	8	63985561	63985561	+	Missense_Mutation	SNP	C	C	A			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr8:63985561C>A	ENST00000260116.4	-	2	322	c.291G>T	c.(289-291)aaG>aaT	p.K97N	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	97	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GGTAGCCAGCCTTTAGGAGGC	0.383000													27	35					3.73988e-18	4.34309e-18	1	1	0
CUX1	1523	broad.mit.edu	37	7	101877481	101877481	+	Missense_Mutation	SNP	G	G	T			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr7:101877481G>T	ENST00000360264.3	+	22	3636	c.3616G>T	c.(3616-3618)Gtg>Ttg	p.V1206L	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.V1139L|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.V1195L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.V1037L|CUX1_ENST00000549414.2_Missense_Mutation_p.V1173L|CUX1_ENST00000546411.2_Missense_Mutation_p.V1093L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1195					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCCCAACAATGTGGAGAAGCT	0.577000													30	42					6.00712e-18	6.75801e-18	1	1	0
PLEKHN1	84069	broad.mit.edu	37	1	902110	902113	+	Frame_Shift_Del	DEL	GCCT	GCCT	-			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr1:902110_902113delGCCT	ENST00000379409.2	+	2	140_143	c.110_113delGCCT	c.(109-114)ggfs	p.GL37fs	PLEKHN1_ENST00000379410.3_Frame_Shift_Del_p.GL37fs|PLEKHN1_ENST00000379407.2_Frame_Shift_Del_p.GL37fs			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	37										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ATGTCGGCCGGCCTGCCGGGCCCC	0.740													5	1	---	---	---	---					
SLC31A2	1318	broad.mit.edu	37	9	115913263	115913265	+	Translation_Start_Site	DEL	GCG	GCG	-			TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr9:115913263_115913265delGCG	ENST00000259392.3	+	0	42_44				SLC31A2_ENST00000490809.1_3'UTR	NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2							integral to plasma membrane	copper ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7						GGTAGCTATCgcggcggcggcgg	0.744													3	4	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662745	6662746	+	In_Frame_Ins	INS	-	-	CAG	rs56194704		TCGA-KS-A4IB-01A-11D-A257-08	TCGA-KS-A4IB-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3724d56-88c0-4852-9cea-315377062ea9	c02af1ba-df99-42e4-a70e-71765a149770	g.chr11:6662745_6662746insCAG	ENST00000299441.3	-	2	510_511	c.99_100insCTG	c.(97-102)ctgggc>ctCTGgggc	p.33_34LG>LWG		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCCAGCCCCcagcagcagca	0.639													5	4	---	---	---	---