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	64619453	64619453	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr3:64619453C>A	ENST00000498707.1	-	13	2301	c.1959G>T	c.(1957-1959)caG>caT	p.Q653H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Q625H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	653	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)		AGTGAGCACACTGTTCATCTC	0.453000													16	151					6.31663e-08	6.99341e-08	1	1	0
BFAR	51283	broad.mit.edu	37	16	14761536	14761536	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr16:14761536C>T	ENST00000261658.2	+	8	1482	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Missense_Mutation_p.T274M|BFAR_ENST00000563971.1_Missense_Mutation_p.T277M	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	402					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AAAGTATCAACGCAGGGGCTT	0.488000													22	94					0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867413	5867413	+	Silent	SNP	G	G	A	rs148489400	by1000genomes	TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:5867413G>A	ENST00000252675.5	-	5	886	c.324C>T	c.(322-324)gcC>gcT	p.A108A	FUT5_ENST00000588525.1_Silent_p.A108A			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	108					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CACTGGAGTCGGCAGTGATGT	0.642000													4	76					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72733183	72733183	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr17:72733183C>A	ENST00000392614.4	+	1	128	c.35C>A	c.(34-36)cCg>cAg	p.P12Q	RAB37_ENST00000528438.1_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392615.5_Missense_Mutation_p.P12Q	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAGCCGAGCCGGTGTTGCTC	0.731000													3	20					0.150653	0.155675	1	1	0
PCDHA10	0	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687000													9	126					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													5	40					0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141059	20141059	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr1:20141059C>T	ENST00000375121.2	-	1	712	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	179						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCACCCATCGTAAGACACC	0.642000													5	59					0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508910	48508910	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr3:48508910G>A	ENST00000296443.9	+	3	1743	c.856G>A	c.(856-858)Ggg>Agg	p.G286R	TREX1_ENST00000422277.2_Missense_Mutation_p.G341R|TREX1_ENST00000433541.1_Missense_Mutation_p.G147R|TREX1_ENST00000436480.2_Missense_Mutation_p.G286R|TREX1_ENST00000444177.1_Missense_Mutation_p.G276R|TREX1_ENST00000456089.1_Missense_Mutation_p.G147R			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	341					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex 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)		ATCCAGGGAGGGGCTGCTGGC	0.607000													5	62					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38991503	38991503	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:38991503C>T	ENST00000355481.4	+	47	7618	c.7487C>T	c.(7486-7488)cCg>cTg	p.P2496L	RYR1_ENST00000359596.3_Missense_Mutation_p.P2496L|RYR1_ENST00000360985.3_Missense_Mutation_p.P2496L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2496	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCTTCGTGCCGGACCACAAG	0.642000													7	44					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823832	38823832	+	Silent	SNP	A	A	C			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr22:38823832A>C	ENST00000303592.3	-	2	564	c.306T>G	c.(304-306)ggT>ggG	p.G102G		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	102	Poly-Gly.|Val/Gly/Ala/Pro stretch.				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CTCCGCCACCAcccgccgccg	0.687000													9	26					0	0	1	0	0
PLEKHM1P	0	broad.mit.edu	37	17	62817956	62817956	+	RNA	SNP	G	G	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr17:62817956G>A	ENST00000582986.1	-	0	542					NR_024386.1																						TGGGCTCCTCGCAATGGTCTG	0.562000													3	33					0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185327074	185327074	+	Silent	SNP	T	T	C			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr3:185327074T>C	ENST00000296257.5	+	7	898	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L	SENP2_ENST00000427465.2_Silent_p.L44L|SENP2_ENST00000545472.1_Silent_p.L210L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	220					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCGAAAGTTATTGGAACGACT	0.358000													7	74					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406386	3406386	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr16:3406386G>C	ENST00000304936.2	+	1	498	c.446G>C	c.(445-447)tGc>tCc	p.C149S		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	149			C -> W (in dbSNP:rs1218763).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGATTGCCTGCCTGGGTGGC	0.617000													8	74					0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78393483	78393483	+	Silent	SNP	G	G	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr15:78393483G>A	ENST00000328828.5	+	5	888	c.888G>A	c.(886-888)ggG>ggA	p.G296G	SH2D7_ENST00000409568.2_Silent_p.G160G	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	296										endometrium(2)|kidney(2)|lung(3)	7						ATGGCCTGGGGCCTGTCCTTT	0.637000													4	30					0	0	1	0	0
ADPGK	83440	broad.mit.edu	37	15	73044692	73044692	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr15:73044692G>A	ENST00000311669.8	-	7	1574	c.1481C>T	c.(1480-1482)cCt>cTt	p.P494L	ADPGK_ENST00000456471.2_Missense_Mutation_p.P220L	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	495	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTAATAGTGAGGGTGTACTTC	0.433000													5	33					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96232138	96232138	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr5:96232138G>A	ENST00000437043.3	+	8	2012	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.R389H	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	434					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AATTCATCCCGCCCTATCTCC	0.358000													3	37					0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55618430	55618430	+	Missense_Mutation	SNP	G	G	T	rs60954195		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr14:55618430G>T	ENST00000247191.2	-	17	2567	c.2351C>A	c.(2350-2352)aCt>aAt	p.T784N	DLGAP5_ENST00000395425.2_Missense_Mutation_p.T784N	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	784					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AGAAATTTTAGTTTCCCCTTC	0.313000													5	40					0.184627	0.184627	1	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	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				25	61					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488523	108488523	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr2:108488523A>G	ENST00000408999.3	+	20	4140	c.4063A>G	c.(4063-4065)Aaa>Gaa	p.K1355E	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1355E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1355	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGAAAATGAAAAAGTTGTTTT	0.363000													20	245					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3																						TGCAGTGCCCACATGGAGAAG	0.572													2	4	---	---	---	---					
RP13-726E6.2	0	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285																											CAGCACCCCATGGGGGGGCCCT	0.500													5	7	---	---	---	---					
RP11-405A12.2	0	broad.mit.edu	37	12	20096042	20096042	+	RNA	DEL	A	A	-			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr12:20096042delA	ENST00000535764.1	+	0	212																											ACAAGCTGTTAAAAAAAAAAT	0.303													3	3	---	---	---	---					
TUBB8P7	0	broad.mit.edu	37	16	90161966	90161966	+	RNA	DEL	T	T	-	rs56265310		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr16:90161966delT	ENST00000567960.1	+	0	702				TUBB8P7_ENST00000564451.1_RNA																							CTACCATGAGTTGGGGTCACC	0.542													7	0	---	---	---	---					
CTC-513N18.6	0	broad.mit.edu	37	19	20634038	20634039	+	RNA	DEL	TG	TG	-			TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:20634038_20634039delTG	ENST00000598131.1	+	0	160																											TTAGTAAAAATGTGTGTGTGTG	0.401													6	13	---	---	---	---					
AC006293.3	0	broad.mit.edu	37	19	55221804	55221805	+	RNA	INS	-	-	AC	rs45583536		TCGA-EM-A2CS-06A-11D-A19J-08	TCGA-EM-A2CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46efe84b-e856-4b4d-a1fa-578578741495	6a6fd1e9-9604-4d58-a7a7-3ce60b565972	g.chr19:55221804_55221805insAC	ENST00000413439.1	+	0	1415																											CAGAGACAGAGACTGAGGGTCC	0.614													5	5	---	---	---	---					
