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
DNAH1	25981	broad.mit.edu	37	3	52383001	52383001	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr3:52383001G>A	ENST00000420323.2	+	13	2465	c.2204G>A	c.(2203-2205)aGt>aAt	p.S735N		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	735	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCATTGCCAGTGCCGTGTCC	0.577000													4	87					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3441340	3441340	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr4:3441340C>T	ENST00000344733.5	+	18	5177	c.4273C>T	c.(4273-4275)Cct>Tct	p.P1425S	RGS12_ENST00000338806.4_Missense_Mutation_p.P777S	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1425						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)		ATCAGACCTCCCTGGCTTGGG	0.692000													3	25					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	43					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671241	45671241	+	Silent	SNP	C	C	G	rs7115779	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr11:45671241C>G	ENST00000308064.2	-	4	1903	c.1233G>C	c.(1231-1233)tcG>tcC	p.S411S		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	411					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCCGGGTCACGAGAAGGGGC	0.627000													6	151					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	81					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	81					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324223	62324223	+	Missense_Mutation	SNP	G	G	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr20:62324223G>T	ENST00000318100.4	+	29	3545	c.2718G>T	c.(2716-2718)gaG>gaT	p.E906D	RTEL1_ENST00000370003.1_Missense_Mutation_p.E151D|RTEL1_ENST00000370018.3_Missense_Mutation_p.E906D|RTEL1_ENST00000360203.5_Missense_Mutation_p.E906D|RTEL1_ENST00000508582.2_Missense_Mutation_p.E930D|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.E906D			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	906					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGAAGCAGGAGTTGAGCCAAG	0.647000													6	151					2.0095e-06	2.18174e-06	1	1	0
HCP5	0	broad.mit.edu	37	6	31431874	31431874	+	RNA	SNP	G	G	T	rs116422878	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr6:31431874G>T	ENST00000414046.2	+	0	946					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						tgcagagtgtggttttgggag	0.507000													4	72					0.00024832	0.000262116	1	1	0
OR5T2	219464	broad.mit.edu	37	11	56000210	56000210	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr11:56000210C>T	ENST00000313264.4	-	1	527	c.452G>A	c.(451-453)tGc>tAc	p.C151Y		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAAGAGAAAGCATTCTGTGGT	0.418000													59	85					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000													7	141					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50686833	50686833	+	Silent	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr22:50686833C>T	ENST00000216271.5	-	11	1327	c.975G>A	c.(973-975)ccG>ccA	p.P325P	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Silent_p.P275P|HDAC10_ENST00000349505.4_Silent_p.P305P|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	325					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGTGGGGCCGGGTCACCCA	0.657000													8	52					0	0	1	0	0
GGT3P	0	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr22:18778612C>T	ENST00000412448.1	-	0	793																											GCGGCCACGGCAGCCCTGGTG	0.637000													3	26					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71187160	71187160	+	Silent	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr2:71187160C>T	ENST00000234396.4	+	6	610	c.537C>T	c.(535-537)cgC>cgT	p.R179R	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.R179R	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	179					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.R179R(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCATTGCCCGCGGCCAGAAGA	0.627000													27	55					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112969645	112969645	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr3:112969645C>T	ENST00000495514.1	+	4	1045	c.341C>T	c.(340-342)gCt>gTt	p.A114V	BOC_ENST00000273395.4_Missense_Mutation_p.A114V|BOC_ENST00000485230.1_Missense_Mutation_p.A114V|BOC_ENST00000355385.3_Missense_Mutation_p.A114V|BOC_ENST00000484034.1_Missense_Mutation_p.A114V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	114	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCTGCGGGGGCTGTGGCCAGC	0.637000													4	54					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57579590	57579590	+	Missense_Mutation	SNP	C	C	T	rs140707279	by1000genomes	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr12:57579590C>T	ENST00000243077.3	+	41	7206	c.6740C>T	c.(6739-6741)aCc>aTc	p.T2247I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2247					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGGCAGGCACCTCTCCGGGC	0.582000													4	78					0	0	1	0	0
WBSCR27	155368	broad.mit.edu	37	7	73249155	73249155	+	Missense_Mutation	SNP	G	G	A	rs141298816	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr7:73249155G>A	ENST00000297873.4	-	6	705	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	219										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CAGAGATGCCGGATACCACCT	0.637000													4	93					0	0	1	0	0
MT-CYB	4519	broad.mit.edu	37	MT	15579	15579	+	Missense_Mutation	SNP	A	A	G			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chrM:15579A>G	ENST00000361789.2	+	1	833	c.833A>G	c.(832-834)tAc>tGc	p.278_278insC						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CCTATTCGCCTACACAATTCT	0.483000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	14	2					0	0	1	0	0
FBXL14	144699	broad.mit.edu	37	12	1703090	1703090	+	Missense_Mutation	SNP	A	A	C			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr12:1703090A>C	ENST00000339235.3	-	1	241	c.143T>G	c.(142-144)gTg>gGg	p.V48G	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	48	F-box.|Required for down-regulation of SNAI1.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTTGGCCTCCACCCCCCGCCA	0.731000													4	9					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413693	178413693	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr5:178413693G>A	ENST00000231188.5	-	8	1740	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P521L	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	521					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGGCCCGCAGGGCAGGCTGCA	0.677000													4	73					0	0	1	0	0
PRR5-ARHGAP8	0	broad.mit.edu	37	22	45244819	45244819	+	Silent	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr22:45244819C>T	ENST00000352766.7	+	15	1386	c.1386C>T	c.(1384-1386)ccC>ccT	p.P462P	ARHGAP8_ENST00000517296.3_Silent_p.P462P|ARHGAP8_ENST00000336963.4_Silent_p.P252P|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.P383P|ARHGAP8_ENST00000356099.6_Silent_p.P252P|ARHGAP8_ENST00000389774.2_Silent_p.P283P|ARHGAP8_ENST00000389773.5_Silent_p.P374P																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CAGGGAAGCCCGTGAACTTTG	0.617000													66	97					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	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				35	42					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452123	43452123	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr2:43452123G>A	ENST00000282388.3	-	2	1113	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	274					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCGACTCGAGGCCGCCCGGG	0.731000													26	17					0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116854714	116854714	+	Missense_Mutation	SNP	G	G	C	rs147277754	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr9:116854714G>C	ENST00000374118.3	-	15	1538	c.1301C>G	c.(1300-1302)aCt>aGt	p.T434S		NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	567					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TCGGGTCTGAGTCCAGTCACT	0.617000													5	79					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)del	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					10	5	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													5	6	---	---	---	---					
PPM1E	22843	broad.mit.edu	37	17	56833644	56833646	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr17:56833644_56833646delGAG	ENST00000308249.2	+	1	415_417	c.286_288delGAG	c.(286-288)del	p.E100del		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	100	Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ggttgagggtgaggaggaggagg	0.783													3	5	---	---	---	---					
