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
C3	718	broad.mit.edu	37	19	6702224	6702224	+	Splice_Site	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:6702224C>A	ENST00000245907.6	-	19	2447		c.e19-1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGTAGAGATTCTGGATGGAGA	0.507000													28	44					9.65021e-13	1.11942e-12	1	1	0
EPHB1	2047	broad.mit.edu	37	3	134873067	134873067	+	Silent	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:134873067G>A	ENST00000398015.3	+	6	1741	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_ENST00000493838.1_Silent_p.P18P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCACAGCCGGAGCAGCCCA	0.557000													4	239					0	0	1	0	0
XIST	0	broad.mit.edu	37	X	73062636	73062636	+	RNA	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:73062636A>G	ENST00000429829.1	-	0	9952					NR_001564.2																						AAGAGGCAAAAGGGGCAGGGC	0.463000													3	102					0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507000													3	178					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51619708	51619708	+	Missense_Mutation	SNP	G	G	A	rs148990124		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr6:51619708G>A	ENST00000371117.3	-	56	8946	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2891C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2891					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCATGGGGGCGCCAATCCACT	0.438000													26	197					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													7	305					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547000													3	110					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678432	48678432	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr17:48678432G>A	ENST00000352832.5	+	18	4115	c.3743G>A	c.(3742-3744)cGg>cAg	p.R1248Q	CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1248Q|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1271Q|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1271Q	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1271					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGTGTCACCGGATCATCACC	0.627000													80	178					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													3	138					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33146121	33146121	+	Silent	SNP	G	G	A	rs143209965	byFrequency	TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr6:33146121G>A	ENST00000341947.2	-	20	2009	c.1782C>T	c.(1780-1782)gaC>gaT	p.D594D	COL11A2_ENST00000395197.1_Silent_p.D534D|COL11A2_ENST00000374713.1_Silent_p.D547D|COL11A2_ENST00000361917.1_Silent_p.D487D|COL11A2_ENST00000374714.1_Silent_p.D568D|COL11A2_ENST00000374712.1_Silent_p.D513D|COL11A2_ENST00000357486.1_Silent_p.D573D|COL11A2_ENST00000374708.4_Silent_p.D508D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	594	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAATCTCCCCGTCATCTCCCT	0.632000													8	199					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157202	154157202	+	Silent	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:154157202G>A	ENST00000360256.4	-	14	5063	c.4863C>T	c.(4861-4863)aaC>aaT	p.N1621N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1621	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCACAAGCGTTCAGGGACA	0.413000													5	286					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	85					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30038263	30038263	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr22:30038263G>A	ENST00000338641.4	+	4	877	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	NF2_ENST00000413209.2_Missense_Mutation_p.V146I|NF2_ENST00000361676.4_Missense_Mutation_p.V104I|NF2_ENST00000347330.5_Missense_Mutation_p.V63I|NF2_ENST00000397789.3_Missense_Mutation_p.V146I|NF2_ENST00000361452.4_Missense_Mutation_p.V105I|NF2_ENST00000361166.4_Missense_Mutation_p.V146I|NF2_ENST00000353887.4_Missense_Mutation_p.V63I|NF2_ENST00000403999.3_Missense_Mutation_p.V146I|NF2_ENST00000334961.7_Missense_Mutation_p.V63I|NF2_ENST00000403435.1_Missense_Mutation_p.V146I	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	146	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(5)|p.?(2)|p.Y144fs*5(1)|p.V146I(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCTTACGCCGTCCAGGCCAA	0.448000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				3	59					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406952	75406952	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr10:75406952A>G	ENST00000394810.2	-	4	2607	c.2458T>C	c.(2458-2460)Ttt>Ctt	p.F820L	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L|SYNPO2L_ENST00000372872.4_Intron	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	820	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TGGGGGAAAAAGGGAGAGAGC	0.577000													4	171					0	0	1	0	0
TIMM17B	10245	broad.mit.edu	37	X	48751202	48751202	+	Silent	SNP	T	T	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:48751202T>C	ENST00000396779.3	-	7	709	c.561A>G	c.(559-561)acA>acG	p.T187T	TIMM17B_ENST00000466995.1_5'UTR|TIMM17B_ENST00000376582.3_Silent_p.T137T	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	137					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						ACTGCTGGGCTGTGTAGCGAG	0.597000													3	50					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123383036	123383036	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:123383036G>A	ENST00000360772.3	-	24	4279	c.3901C>T	c.(3901-3903)Cgc>Tgc	p.R1301C	MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000475616.1_Missense_Mutation_p.R1301C			Q15746	MYLK_HUMAN	myosin light chain kinase	1301	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCTCCTGGCGCGCGGCCAGG	0.627000													40	294					0	0	1	0	0
TEX12	56158	broad.mit.edu	37	11	112040055	112040055	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr11:112040055G>A	ENST00000280358.4	+	2	195		c.e2+1		SDHD_ENST00000532699.1_Intron|TEX12_ENST00000530752.1_Splice_Site|RP11-356J5.4_ENST00000527589.1_RNA	NM_031275.4	NP_112565.1	Q9BXU0	TEX12_HUMAN	testis expressed 12											endometrium(1)|large_intestine(2)|lung(1)	4		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		AGAATTGGAGGTAAGCTGTAT	0.373000													4	147					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32312619	32312619	+	Silent	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr2:32312619A>G	ENST00000315285.3	+	2	599	c.474A>G	c.(472-474)aaA>aaG	p.K158K	SPAST_ENST00000345662.1_Silent_p.K158K	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	158	MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACTGGAAAAAGGAATAGCTG	0.318000													3	166					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69366649	69366649	+	Missense_Mutation	SNP	A	A	G	rs3027		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr16:69366649A>G	ENST00000306875.4	-	4	1664	c.1550T>C	c.(1549-1551)cTt>cCt	p.L517P	COG8_ENST00000562081.1_Missense_Mutation_p.L517P	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	517			L -> R (in dbSNP:rs3027).		protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TGGTGGAAAAAGGACTTGGAG	0.433000													3	155					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927372	23927372	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:23927372C>G	ENST00000402377.3	-	4	1121	c.980G>C	c.(979-981)aGa>aCa	p.R327T	ZNF681_ENST00000395385.3_Missense_Mutation_p.R258T	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATCTTATGTCTGGTAAGGTG	0.378000													3	139					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													4	145					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52019429	52019429	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:52019429C>T	ENST00000458031.2	+	6	713	c.482C>T	c.(481-483)aCa>aTa	p.T161I	ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.T172I|ACY1_ENST00000476854.1_Missense_Mutation_p.T71I|ACY1_ENST00000476351.1_Missense_Mutation_p.T36I|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000404366.2_Missense_Mutation_p.T71I|ACY1_ENST00000494103.1_Missense_Mutation_p.T71I			Q03154	ACY1_HUMAN	aminoacylase 1	71					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	ACCAACCCTACACTCTCCTCC	0.607000													47	102					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930711	184930711	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr4:184930711C>A	ENST00000308497.4	+	3	2155	c.720C>A	c.(718-720)agC>agA	p.S240R	STOX2_ENST00000438269.1_Missense_Mutation_p.S240R	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	240					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTGAAAAGAGCAAAAGTACTG	0.443000													3	36					0.150653	0.156034	1	1	0
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr4:146059041A>G	ENST00000454497.2	-	21	2828	c.2691T>C	c.(2689-2691)caT>caC	p.H897H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478000													4	277					0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170594187	170594187	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr6:170594187C>T	ENST00000366756.3	-	8	1402	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	357	EGF-like 4; calcium-binding (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CCGTAGAAGCCGGGTGGGCAG	0.557000													4	99					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959719	38959719	+	Silent	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:38959719C>T	ENST00000355481.4	+	26	3626	c.3495C>T	c.(3493-3495)ggC>ggT	p.G1165G	RYR1_ENST00000359596.3_Silent_p.G1165G|RYR1_ENST00000360985.3_Silent_p.G1165G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1165	6 X approximate repeats.|B30.2/SPRY 2.				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)	CCCTCAATGGCGAGGTCCTCA	0.557000													12	119					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155028663	155028663	+	Silent	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:155028663C>T	ENST00000356955.2	+	9	953	c.852C>T	c.(850-852)ttC>ttT	p.F284F	ADAM15_ENST00000359280.4_Silent_p.F284F|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Silent_p.F284F|ADAM15_ENST00000447332.3_Silent_p.F268F|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000449910.2_Silent_p.F284F|ADAM15_ENST00000531455.1_Silent_p.F294F|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000271836.6_Silent_p.F284F|ADAM15_ENST00000360674.4_Silent_p.F284F|ADAM15_ENST00000355956.2_Silent_p.F284F	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	284	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCGAAAACTTCCTCCACTGGC	0.622000													4	117					0	0	1	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74212378	74212378	+	Silent	SNP	T	T	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr7:74212378T>C	ENST00000405086.2	-	16	1662	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_ENST00000451013.2_Silent_p.K38K	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468000													3	202					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20048099	20048099	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr13:20048099C>G	ENST00000400230.2	-	6	391	c.347G>C	c.(346-348)gGc>gCc	p.G116A	TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	116						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G116A(1)|p.G79A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAATAAGCCAATAGCTAG	0.343000													3	129					0	0	1	0	0
ASCL1	429	broad.mit.edu	37	12	103352503	103352503	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr12:103352503C>A	ENST00000266744.3	+	1	1040	c.481C>A	c.(481-483)Cgc>Agc	p.R161S		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	161	Helix-loop-helix motif.				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						GGAGACACTGCGCTCGGCGGT	0.657000													3	58					1	1	1	1	0
NBPF3	84224	broad.mit.edu	37	1	21807432	21807432	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:21807432A>G	ENST00000318220.6	+	15	2271	c.1223A>G	c.(1222-1224)aAg>aGg	p.K408R	NBPF3_ENST00000454000.2_Missense_Mutation_p.K394R|NBPF3_ENST00000318249.5_Missense_Mutation_p.K464R|NBPF3_ENST00000342104.5_Missense_Mutation_p.K452R			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	464	NBPF 3.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAATGAAAAAGGACCAAGAA	0.468000													3	244					0	0	1	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131777178	131777178	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr9:131777178T>C	ENST00000372564.3	-	4	485	c.340A>G	c.(340-342)Aca>Gca	p.T114A	SH3GLB2_ENST00000372559.1_Missense_Mutation_p.T114A|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.T114A|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.T114A|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.T114A	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	114	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						TTGATCAGTGTCTTCCCTGAG	0.532000													62	149					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													7	307					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666079	20666079	+	Silent	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr14:20666079G>A	ENST00000357366.3	+	1	585	c.585G>A	c.(583-585)ttG>ttA	p.L195L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTGGTTCTTGATTCCTATCG	0.453000													6	54					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56247518	56247518	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr18:56247518A>G	ENST00000361673.3	-	4	703	c.490T>C	c.(490-492)Tcc>Ccc	p.S164P		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	164							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						TTGGAGGGGGAGGAGTCAGCT	0.468000													4	355					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	84					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59791100	59791100	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr14:59791100A>G	ENST00000395125.1	+	7	940	c.917A>G	c.(916-918)tAt>tGt	p.Y306C	DAAM1_ENST00000360909.3_Missense_Mutation_p.Y306C|DAAM1_ENST00000351081.1_Missense_Mutation_p.Y306C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	306	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CATCTTCGCTATGAATTTCTG	0.289000													42	101					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511911	195511911	+	Silent	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:195511911G>A	ENST00000463781.3	-	2	6999	c.6540C>T	c.(6538-6540)acC>acT	p.T2180T	MUC4_ENST00000475231.1_Silent_p.T2180T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	959					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T2180T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.587000													4	5					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr4:71347033C>T	ENST00000413702.1	+	4	860	c.572C>T	c.(571-573)gCc>gTc	p.A191V	MUC7_ENST00000304887.5_Missense_Mutation_p.A191V|MUC7_ENST00000456088.1_Missense_Mutation_p.A191V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	191	Thr-rich.					extracellular region	protein binding	p.A191V(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587000													5	306					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222428985	222428985	+	Missense_Mutation	SNP	C	C	A	rs144149406		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr2:222428985C>A	ENST00000281821.2	-	3	330	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	EPHA4_ENST00000392071.4_Missense_Mutation_p.V46L|EPHA4_ENST00000409938.1_Missense_Mutation_p.V97L|EPHA4_ENST00000409854.1_Missense_Mutation_p.V97L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	97						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCAATATACACCCTCTGAGCC	0.468000													5	214					0.217242	0.221053	1	1	0
MORN1	79906	broad.mit.edu	37	1	2268277	2268277	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:2268277G>A	ENST00000378531.3	-	11	1222	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	350										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		ACAATGGGGCGCATGTCCCCT	0.657000													3	31					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548923	52548923	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr13:52548923C>A	ENST00000242839.4	-	2	589	c.433G>T	c.(433-435)Gtc>Ttc	p.V145F	ATP7B_ENST00000400370.3_Missense_Mutation_p.V145F|ATP7B_ENST00000400366.3_Missense_Mutation_p.V145F|ATP7B_ENST00000448424.2_Missense_Mutation_p.V145F|ATP7B_ENST00000344297.5_Missense_Mutation_p.V145F|ATP7B_ENST00000418097.2_Missense_Mutation_p.V145F|ATP7B_ENST00000542656.1_Missense_Mutation_p.V113F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	145	HMA 2.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CGGAGCTTGACCACAGCCTCC	0.577000									Wilson disease				16	56					2.94398e-08	3.34806e-08	1	1	0
RP11-114H24.7	0	broad.mit.edu	37	15	78212618	78212618	+	RNA	SNP	A	A	G			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562000													3	53					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	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				40	80					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr3:195511937C>T	ENST00000463781.3	-	2	6973	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	951					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.577000													3	5					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100704966	100704966	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr12:100704966C>A	ENST00000360820.2	+	5	1062	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	209	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTCTGAACAAGAGGTAAT	0.348000													3	95					0.00909568	0.00976943	1	1	0
ALG12	79087	broad.mit.edu	37	22	50302984	50302984	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr22:50302984C>A	ENST00000330817.5	-	6	949	c.676G>T	c.(676-678)Gct>Tct	p.A226S		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	226					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GAGTCCACAGCAACCGTCAGT	0.478000													3	74					0.004672	0.00511275	1	1	0
CENPI	2491	broad.mit.edu	37	X	100382562	100382562	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:100382562A>T	ENST00000372927.1	+	10	1259	c.982A>T	c.(982-984)Agt>Tgt	p.S328C	CENPI_ENST00000218507.5_Missense_Mutation_p.S328C|CENPI_ENST00000423383.1_Missense_Mutation_p.S328C|CENPI_ENST00000372926.1_Missense_Mutation_p.S328C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	328					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AAAAGAGATGAGTCTTTCTGA	0.358000													63	126					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93103317	93103317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr11:93103317C>T	ENST00000298050.3	+	6	611	c.511C>T	c.(511-513)Caa>Taa	p.Q171*		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	171										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGATGCTCAACAAAAATTATT	0.308000													8	14					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161059028	161059030	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:161059028_161059030delAGC	ENST00000368012.3	-	1	359_361	c.57_59delGCT	c.(55-60)cta>ct	p.LL21del		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	21					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCCAGCAGTAGCAGCAGCAGCA	0.567													8	280	---	---	---	---					
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcg>gc	p.AE30del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	30								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488													7	255	---	---	---	---					
FTH1	2495	broad.mit.edu	37	11	61732517	61732517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr11:61732517delT	ENST00000273550.7	-	3	563	c.329delA	c.(328-330)atfs	p.N110fs	BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	110	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTGATTCACATTTTTTTCCAA	0.423													7	498	---	---	---	---					
TNFAIP2	7127	broad.mit.edu	37	14	103599784	103599786	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr14:103599784_103599786delAGC	ENST00000560869.1	+	10	2270_2272	c.1631_1633delAGC	c.(1630-1635)gag>g	p.EQ544del	TNFAIP2_ENST00000451723.2_In_Frame_Del_p.EQ213del|TNFAIP2_ENST00000333007.1_In_Frame_Del_p.EQ544del|TNFAIP2_ENST00000538222.1_In_Frame_Del_p.EQ27del			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	544					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AAGACGGCCGAGCAGCAGCAGCA	0.626													7	184	---	---	---	---					
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs140689079		TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggc>gg	p.GD14del	POLI_ENST00000406285.3_In_Frame_Del_p.GD14del|POLI_ENST00000579434.1_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	14					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)					5	4	---	---	---	---					
GADD45GIP1	90480	broad.mit.edu	37	19	13065273	13065275	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chr19:13065273_13065275delGCT	ENST00000316939.1	-	2	439_441	c.416_418delAGC	c.(415-420)cgg>c	p.QR139del		NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	139	Poly-Gln.				cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						CAGTTCTCCCGCTGCTGCTGCTG	0.635													7	175	---	---	---	---					
RP6-159A1.3	0	broad.mit.edu	37	X	65220065	65220067	+	RNA	DEL	TGC	TGC	-			TCGA-EL-A3CN-01A-12D-A20C-08	TCGA-EL-A3CN-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f744e4d-4489-4ab6-a400-e0b4bbc33fe5	bfc6c227-a06d-4994-b66d-69381d60e746	g.chrX:65220065_65220067delTGC	ENST00000424241.1	+	0	207																											AGCCCTTTTTtgctgctgctgct	0.409													3	3	---	---	---	---