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
C4orf40	401137	broad.mit.edu	37	4	71024450	71024450	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr4:71024450G>A	uc003hfa.4	+	3	554	c.481G>A	c.(481-483)Gag>Aag	p.E161K	C4orf40_uc003hfb.4_Missense_Mutation_p.E161K	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	161	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCTGCTGCAGAGGCACCTGT	0.622000													5	66					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62496218	62496218	+	Silent	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr17:62496218G>A	uc010deh.2	-	12	1711	c.1668C>T	c.(1666-1668)acC>acT	p.T556T	DDX5_uc002jek.2_Silent_p.T556T|DDX5_uc002jej.2_Silent_p.T451T|DDX5_uc010wqa.1_Silent_p.T477T	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	556					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCTAAAACTGGTCTGTATAC	0.403000			T	ETV4	prostate								4	94					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62546414	62546414	+	Silent	SNP	G	G	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:62546414G>C	uc001nvc.3	+	5	711	c.510G>C	c.(508-510)ggG>ggC	p.G170G	TAF6L_uc009yof.3_Silent_p.G170G	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.	170					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGTGCTAGGGGATGATCCGC	0.483000													3	124					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231264857	231264857	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:231264857G>A	uc010fxm.1	+	14	1304	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	SP140L_uc010fxo.1_Missense_Mutation_p.E177K	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	405						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAACTTGGATGAGTGTGAGGT	0.512000													21	80					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75868775	75868775	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr10:75868775A>G	uc001jwd.3	+	17	2700	c.2606A>G	c.(2605-2607)gAg>gGg	p.E869G	VCL_uc009xrr.3_Missense_Mutation_p.E618G|VCL_uc010qky.1_Missense_Mutation_p.E776G|VCL_uc001jwe.3_Missense_Mutation_p.E869G|VCL_uc010qkz.2_Splice_Site_p.V131_splice	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	869	Linker (Pro-rich).|Pro-rich.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CCTGAAGGTGAGGTCCCTCCA	0.512000													3	94					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56149135	56149135	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr18:56149135T>C	uc002lhj.4	-	12	6647	c.6433A>G	c.(6433-6435)Att>Gtt	p.I2145V		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2145							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTTCCCAATGCTCGGCTGC	0.433000													5	95					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44662001	44662001	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr19:44662001T>C	uc002oym.3	+	5	2139	c.1832T>C	c.(1831-1833)cTc>cCc	p.L611P	ZNF234_uc002oyl.4_Missense_Mutation_p.L611P	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GCCTCAAGTCTCCAACTTCAT	0.463000													3	124					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31765218	31765218	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr14:31765218G>A	uc001wrf.4	-	33	5701	c.5516C>T	c.(5515-5517)aCa>aTa	p.T1839I	HEATR5A_uc010ami.3_Missense_Mutation_p.T1369I	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1833							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AATAAACACTGTGATAGCAGT	0.348000													16	88					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989598	53989598	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr6:53989598G>T	uc011dxa.2	+	2	613	c.580G>T	c.(580-582)Gat>Tat	p.D194Y	MLIP_uc003pcf.2_Missense_Mutation_p.D183Y|MLIP_uc003pcg.4_Missense_Mutation_p.D183Y|MLIP_uc003pch.4_Missense_Mutation_p.D121Y|MLIP_uc011dwz.1_Missense_Mutation_p.D142Y	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	183						PML body|nuclear envelope	protein binding	p.D183N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACAGGGGACTGATCTCAAGAC	0.542000													5	66					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120575112	120575112	+	Missense_Mutation	SNP	G	G	T	rs61740048	byFrequency	TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr8:120575112G>T	uc003yos.2	-	24	2648	c.2562C>A	c.(2560-2562)aaC>aaA	p.N854K	ENPP2_uc011lic.2_Missense_Mutation_p.N340K|ENPP2_uc003yor.2_Missense_Mutation_p.N437K|ENPP2_uc010mdd.2_Missense_Mutation_p.N827K|ENPP2_uc003yot.2_Missense_Mutation_p.N802K	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	802					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.N854N(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGCTCTCCTCGTTGTCAGGCC	0.478000													8	74					0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825587	52825587	+	Silent	SNP	A	A	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chrX:52825587A>G	uc004drc.1	-	1	160	c.160T>C	c.(160-162)Ttg>Ctg	p.L54L		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	54										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					CTGTAGCACAACACTAATACT	0.418000													4	150					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150155679	150155679	+	Silent	SNP	G	G	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chrX:150155679G>C	uc004fep.3	+	3	461	c.369G>C	c.(367-369)gtG>gtC	p.V123V	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.V123V	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	123					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGAGACGTGGCAAAAAAGC	0.428000													4	54					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130286920	130286920	+	Silent	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:130286920G>A	uc001qgg.4	-	2	1369	c.1011C>T	c.(1009-1011)atC>atT	p.I337I		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	337	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AAATGGTCCCGATGTCTGCCA	0.597000													4	120					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86705781	86705781	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:86705781A>G	uc002sri.4	+	14	2566	c.2239A>G	c.(2239-2241)Ata>Gta	p.I747V	KDM3A_uc010ytj.2_Missense_Mutation_p.I747V|KDM3A_uc010ytk.2_Missense_Mutation_p.I695V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	747					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAAATGGGGAATAAAGGCAAA	0.388000													11	80					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36625191	36625191	+	Silent	SNP	G	G	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr20:36625191G>C	uc002xhl.3	-	6	3167	c.2958C>G	c.(2956-2958)gtC>gtG	p.V986V	TTI1_uc002xhm.3_Silent_p.V986V	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	986							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGCCCTGTAAGACAGCCAGCT	0.602000													38	131					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101795522	101795522	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr13:101795522C>G	uc001vox.1	-	16	2216	c.2027G>C	c.(2026-2028)tGc>tCc	p.C676S	NALCN_uc001voy.3_Missense_Mutation_p.C391S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	676						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTCAGGAGGCAACATGTGTC	0.468000													8	96					0	0	1	0	0
DOK1	1796	broad.mit.edu	37	2	74784179	74784179	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:74784179G>A	uc002sms.3	+	4	1754	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	DOK1_uc002smr.3_Missense_Mutation_p.D323N|DOK1_uc010ffo.3_Missense_Mutation_p.D323N|DOK1_uc002smt.3_Missense_Mutation_p.D248N|DOK1_uc002smu.3_Missense_Mutation_p.D248N|DOK1_uc010yrz.2_Missense_Mutation_p.D451N|DOK1_uc002smw.1_Missense_Mutation_p.D248N	NM_001381	NP_001184189	Q99704	DOK1_HUMAN	Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.	462					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGGAGCTGGGACTGTGGGCT	0.592000													6	64					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11726231	11726231	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr17:11726231G>T	uc002gne.3	+	47	9194	c.9126G>T	c.(9124-9126)aaG>aaT	p.K3042N	DNAH9_uc010coo.3_Missense_Mutation_p.K2336N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3042					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.P3041H(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)		CAACTCCCAAGTCCTTTCTGG	0.478000													5	91					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3430427	3430427	+	Missense_Mutation	SNP	A	A	T			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr4:3430427A>T	uc003ggw.3	+	15	4458	c.3554A>T	c.(3553-3555)gAc>gTc	p.D1185V	RGS12_uc003ggv.3_Missense_Mutation_p.D1185V|RGS12_uc003ggy.1_Intron|RGS12_uc003ggz.3_Missense_Mutation_p.D537V|RGS12_uc011bvs.2_Intron|RGS12_uc003gha.3_Missense_Mutation_p.D527V|RGS12_uc010icv.3_Missense_Mutation_p.D384V	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1185						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATTAATTTGGACGAAGCAGAG	0.358000													3	65					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29607866	29607866	+	Splice_Site	SNP	C	C	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr12:29607866C>A	uc001rix.1	-	21	2438	c.2438_splice	c.e21-1	p.G813_splice		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	813					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGAAGCAGGACCTGTATTTGG	0.378000													3	24					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106622271	106622271	+	Splice_Site	SNP	C	C	G			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr14:106622271C>G	uc021ser.1	-	1605		c.31098_splice	c.e1605-1							Parts of antibodies, mostly variable regions.																		TGTCCACTCACTCAATATCCT	0.453000													6	128					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105859029	105859029	+	Silent	SNP	G	G	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr2:105859029G>C	uc002tco.1	+	0	830	c.714G>C	c.(712-714)ctG>ctC	p.L238L		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	238						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCCTGGACCTGCGGCAGCTCA	0.647000													3	80					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16496012	16496012	+	Silent	SNP	T	T	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr19:16496012T>A	uc002ndx.3	-	20	2181	c.2175A>T	c.(2173-2175)ggA>ggT	p.G725G	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Silent_p.G615G|EPS15L1_uc002ndz.1_Silent_p.G725G|EPS15L1_uc010xpf.1_Silent_p.G628G|EPS15L1_uc002nea.1_Silent_p.G725G|EPS15L1_uc010eah.1_Silent_p.G727G	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	725	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GATCTAAGGTTCCAAAGGGAT	0.542000													5	129					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924439	105924439	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr11:105924439T>C	uc001pja.3	-	3	1617	c.977A>G	c.(976-978)cAa>cGa	p.Q326R	KBTBD3_uc001pjb.3_Missense_Mutation_p.Q326R|KBTBD3_uc009yxm.3_Missense_Mutation_p.Q247R	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	322								p.P325S(2)|p.P325P(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CAGGTGTGATTGCGGCAGTAT	0.363000													14	79					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	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	0.368000	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				25	55					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108134795	108134795	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A242-01A-21D-A16O-08	TCGA-E8-A242-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c79767c4-0323-44fd-bcf1-0b7619f11f36	cfdba246-27f6-41c1-8899-0db2dae128a2	g.chr12:108134795G>A	uc001tmp.3	-	9	2289	c.1852C>T	c.(1852-1854)Cac>Tac	p.H618Y	PRDM4_uc001tmq.3_Non-coding_Transcript	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	Homo sapiens PR domain containing 4 (PRDM4), mRNA.	618					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCACACTTGTGGGGCTTCATA	0.473000													4	167					0	0	1	0	0