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
GDI1	2664	broad.mit.edu	37	X	153670074	153670074	+	Missense_Mutation	SNP	C	C	G			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chrX:153670074C>G	ENST00000447750.2	+	8	1259	c.924C>G	c.(922-924)atC>atG	p.I308M		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	308					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	p.I308M(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCACCCCATCAAGAACACCA	0.582000													11	96					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125487437	125487437	+	Silent	SNP	C	C	T			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr8:125487437C>T	ENST00000303545.3	+	1	459	c.87C>T	c.(85-87)ccC>ccT	p.P29P		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	29					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCGGGTGCCCTGCCTTTACA	0.647000													8	80					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49897820	49897820	+	Missense_Mutation	SNP	G	G	C			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr19:49897820G>C	ENST00000447857.3	+	3	336	c.131G>C	c.(130-132)tGt>tCt	p.C44S		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	44						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TTCGAAGCTTGTGACCCTCAG	0.627000													3	73					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133483733	133483733	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr3:133483733G>A	ENST00000402696.3	+	11	1797	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	TF_ENST00000264998.3_Missense_Mutation_p.E311K	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	438	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CGATAATTGTGAGGATACACC	0.363000													4	70					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170100	32170100	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr6:32170100A>G	ENST00000375023.3	-	21	3646	c.3508T>C	c.(3508-3510)Tgt>Cgt	p.C1170R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1170	EGF-like 29.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGTTTCTGACACCGGGGCCCT	0.652000													7	39					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	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													3	38					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	32					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74594021	74594021	+	Silent	SNP	C	C	T			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr2:74594021C>T	ENST00000361874.3	-	21	2672	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	DCTN1_ENST00000407639.2_Silent_p.R651R|DCTN1_ENST00000409567.3_Silent_p.R765R|DCTN1_ENST00000394003.3_Silent_p.R778R|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409438.1_Silent_p.R651R|DCTN1_ENST00000409868.1_Silent_p.R768R|DCTN1_ENST00000409240.1_Silent_p.R748R	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	785			R -> W (in susceptibility to amyotrophic lateral sclerosis).		cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTTCCAGATCCCGGAGCAGGA	0.532000													5	36					0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079260	31079260	+	Silent	SNP	G	G	T			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr6:31079260G>T	ENST00000259870.3	-	2	879	c.876C>A	c.(874-876)atC>atA	p.I292I		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	292	Pro-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ATGGGTTATTGATACCTGGGT	0.532000													5	38					0.00116845	0.00116845	1	1	0
HEATR1	55127	broad.mit.edu	37	1	236721596	236721596	+	Silent	SNP	C	C	G			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr1:236721596C>G	ENST00000366582.3	-	36	5259	c.5145G>C	c.(5143-5145)ctG>ctC	p.L1715L	HEATR1_ENST00000366581.2_Silent_p.L1634L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1715					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTATGCACAGCAGCGCGCTTC	0.572000													5	60					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42747203	42747203	+	Missense_Mutation	SNP	C	C	G			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr20:42747203C>G	ENST00000372980.3	-	3	2102	c.1230G>C	c.(1228-1230)caG>caC	p.Q410H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	410					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGTTGGACTCCTGGTTGGCAG	0.617000													15	126					0	0	1	0	0
NACAP1	0	broad.mit.edu	37	8	102381146	102381146	+	RNA	SNP	C	C	T			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr8:102381146C>T	ENST00000419462.1	+	0	558					NR_002182.1																						AAATGCCTGGCGAAGCCACAG	0.567000													4	23					0	0	1	0	0
SS18L1	26039	broad.mit.edu	37	20	60734000	60734000	+	Splice_Site	SNP	T	T	C			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr20:60734000T>C	ENST00000370848.4	+	1	155		c.e1+2		SS18L1_ENST00000331758.3_Intron|SS18L1_ENST00000421564.1_Intron			O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1						chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			AGCACGGAGGTCAGATATGTC	0.627000			T	SSX1	synovial sarcoma								6	137					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74290656	74290656	+	Silent	SNP	C	C	T			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr15:74290656C>T	ENST00000565898.1	+	2	525	c.441C>T	c.(439-441)ctC>ctT	p.L147L	PML_ENST00000354026.6_Silent_p.L147L|PML_ENST00000359928.4_Silent_p.L147L|PML_ENST00000268058.3_Silent_p.L147L|PML_ENST00000569965.1_Silent_p.L147L|PML_ENST00000567543.1_Silent_p.L147L|PML_ENST00000564428.1_Silent_p.L147L|PML_ENST00000569477.1_Silent_p.L147L|PML_ENST00000563500.1_Silent_p.L147L|PML_ENST00000268059.6_Silent_p.L147L|PML_ENST00000435786.2_Silent_p.L147L|PML_ENST00000436891.3_Silent_p.L147L|PML_ENST00000395132.2_Silent_p.L147L|PML_ENST00000395135.3_Silent_p.L147L			P29590	PML_HUMAN	promyelocytic leukemia	147					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCAGCTCCTCTGCGCCAAGT	0.642000			T	"""RARA, PAX5"""	"""APL, ALL"""								5	25					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101872153	101872153	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr15:101872153G>A	ENST00000348070.1	-	15	1938	c.1939C>T	c.(1939-1941)Cgg>Tgg	p.R647W	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R647W	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	648					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCAGCATCCGCGAGCGGGAC	0.572000													5	24					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84								p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													6	185					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	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				7	32					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388421	1388421	+	Missense_Mutation	SNP	G	G	C			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr4:1388421G>C	ENST00000324803.4	+	1	3082	c.122G>C	c.(121-123)gGa>gCa	p.G41A		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	41					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGTCGATGCGGAGTGCCCGCC	0.652000													19	240					0	0	1	0	0
ERCC8	1161	broad.mit.edu	37	5	60170512	60170513	+	Splice_Site	INS	-	-	A			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr5:60170512_60170513insA	ENST00000426742.2	-	13	1383		c.e13-2		ERCC8_ENST00000265038.5_Splice_Site|ERCC8_ENST00000462279.1_Splice_Site|ERCC8_ENST00000543101.1_Splice_Site			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8						positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TGTTGTAGTCTAAAAAAAAAAA	0.302													3	5	---	---	---	---					
RP5-991G20.1	0	broad.mit.edu	37	16	72763869	72763869	+	RNA	DEL	A	A	-			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr16:72763869delA	ENST00000563328.2	+	0	164																											GGTCCAAAACAAAAAAAAAAA	0.433													4	2	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-J8-A3YD-01A-11D-A22Z-08	TCGA-J8-A3YD-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97bafc6f-f6e5-4c20-a95b-6c876f6ade10	073b36fb-8de3-49fd-90aa-fadc538d6809	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									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)		catcaccaccaccaccatcacc	0.579													3	5	---	---	---	---					
