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	uc002mfm.3	-	19	2417	c.2355_splice	c.e19-1	p.G785_splice		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	785					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical 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					0	0	1	0	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	uc003eqt.3	+	5	1746	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_uc003equ.3_Silent_p.P18P	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	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	7503	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	uc004ebm.1	-	0		c.9953T>C								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		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	uc001fbs.3	-	2	316	c.146A>G	c.(145-147)aAg>aGg	p.K49R		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	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	uc003pah.1	-	55	8947	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C	PKHD1_uc010jzn.1_Missense_Mutation_p.R874C|PKHD1_uc003pai.3_Missense_Mutation_p.R2891C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	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
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	uc004fmt.3	-	13	5034	c.4863C>T	c.(4861-4863)aaC>aaT	p.N1621N		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	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
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	uc003age.4	+	3	879	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	NF2_uc003afy.4_Missense_Mutation_p.V146I|NF2_uc003afz.4_Missense_Mutation_p.V63I|NF2_uc003agf.4_Missense_Mutation_p.V146I|NF2_uc003agb.4_Missense_Mutation_p.V69I|NF2_uc003agc.4_Missense_Mutation_p.V108I|NF2_uc003agd.4_Non-coding_Transcript|NF2_uc003agg.4_Missense_Mutation_p.V146I|NF2_uc003aga.4_Missense_Mutation_p.V104I|NF2_uc003agh.4_Missense_Mutation_p.V105I|NF2_uc003agi.4_Missense_Mutation_p.V63I|NF2_uc003agj.4_Missense_Mutation_p.V146I	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	146	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|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 tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(10)|p.?(2)|p.V146I(2)|p.Y144fs*5(1)|p.K123fs*2(1)|p.L140_P252del(1)|p.L127_D382del(1)|p.A145_L163del(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
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	uc003ego.3	-	22	4183	c.3901C>T	c.(3901-3903)Cgc>Tgc	p.R1301C	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Missense_Mutation_p.R101C|MYLK_uc011bjw.2_Missense_Mutation_p.R1301C|MYLK_uc003egp.3_Missense_Mutation_p.R1232C|MYLK_uc003egq.3_Missense_Mutation_p.R1301C|MYLK_uc003egr.3_Missense_Mutation_p.R1232C|MYLK_uc003egs.3_Missense_Mutation_p.R1125C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1301	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin 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	uc001pnc.3	+	2	195	c.63_splice	c.e2+1	p.E21_splice	TEX12_uc001pnd.3_Splice_Site_p.E21_splice	NM_031275	NP_112565	Q9BXU0	TEX12_HUMAN	Homo sapiens testis expressed 12 (TEX12), mRNA.	21										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	uc002roc.3	+	1	695	c.474A>G	c.(472-474)aaA>aaG	p.K158K	SPAST_uc002rod.3_Silent_p.K158K	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	Homo sapiens spastin (SPAST), transcript variant 1, mRNA.	158	MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B.				ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|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	ATP binding|alpha-tubulin 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
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	uc004egx.3	+	9	1252	c.982A>T	c.(982-984)Agt>Tgt	p.S328C	CENPI_uc011mrg.2_Missense_Mutation_p.S328C|CENPI_uc004egy.3_Missense_Mutation_p.S328C	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	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
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	uc011bea.2	+	5	737	c.482C>T	c.(481-483)aCa>aTa	p.T161I	ABHD14B_uc003dcn.3_5'Flank|ACY1_uc011beb.2_Missense_Mutation_p.T71I|ACY1_uc003dcp.3_Missense_Mutation_p.T71I|ACY1_uc003dcq.3_Missense_Mutation_p.T71I|ACY1_uc021wzb.1_Missense_Mutation_p.T36I|ACY1_uc021wzc.1_Missense_Mutation_p.T71I|ACY1_uc021wzd.1_Missense_Mutation_p.T71I	NM_001198895	NP_001185824	Q03154	ACY1_HUMAN	Homo sapiens aminoacylase 1 (ACY1), transcript variant 2, mRNA.	71					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	p.R161Q(1)		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	uc003ivz.1	+	2	2155	c.720C>A	c.(718-720)agC>agA	p.S240R	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	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	0	1	0	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	uc003ika.4	-	20	2829	c.2691T>C	c.(2689-2691)caT>caC	p.H897H		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	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	uc003qxm.3	-	7	1539	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	357	EGF-like 4; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion 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	uc002oit.3	+	25	3625	c.3495C>T	c.(3493-3495)ggC>ggT	p.G1165G	RYR1_uc002oiu.3_Silent_p.G1165G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1165	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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	uc001fgr.1	+	8	953	c.852C>T	c.(850-852)ttC>ttT	p.F284F	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Silent_p.F268F|ADAM15_uc010peu.1_Silent_p.F301F|ADAM15_uc001fgx.1_Silent_p.F284F|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.F284F|ADAM15_uc001fgs.1_Silent_p.F284F|ADAM15_uc010pev.1_Silent_p.F294F|ADAM15_uc001fgu.1_Silent_p.F284F|ADAM15_uc001fgv.1_Silent_p.F284F|ADAM15_uc001fgw.1_Silent_p.F284F	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	284	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|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	uc003ubd.1	-	15	1657	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_uc010lbt.1_Silent_p.K38K	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	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
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	uc002irk.1	+	18	4184	c.3812G>A	c.(3811-3813)cGg>cAg	p.R1271Q	CACNA1G_uc002iri.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irj.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R1271Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R1248Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R1161Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R1184Q|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	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
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	uc001tjr.4	+	0	1052	c.481C>A	c.(481-483)Cgc>Agc	p.R161S	ASCL1_uc021rcu.1_Missense_Mutation_p.R161S	NM_004316	NP_004307	P50553	ASCL1_HUMAN	Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.	161	Helix-loop-helix motif.				Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor 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					0	0	1	0	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	uc001ber.3	+	11	1741	c.1391A>G	c.(1390-1392)aAg>aGg	p.K464R	NBPF3_uc001bes.3_Missense_Mutation_p.K408R|NBPF3_uc009vqb.3_Missense_Mutation_p.K452R|NBPF3_uc010odm.2_Missense_Mutation_p.K394R	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	464	NBPF 4.					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	uc004bww.3	-	3	486	c.340A>G	c.(340-342)Aca>Gca	p.T114A	SH3GLB2_uc004bwv.3_Missense_Mutation_p.T114A	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B2 (SH3GLB2), mRNA.	114	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	SH3 domain binding|cytoskeletal adaptor activity			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
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	uc010tlb.2	+	0	585	c.585G>A	c.(583-585)ttG>ttA	p.L195L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	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	uc002lhj.4	-	3	704	c.490T>C	c.(490-492)Tcc>Ccc	p.S164P		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	164							ATP binding|protein serine/threonine kinase activity	p.R164T(1)		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
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	uc001xdz.1	+	7	1042	c.917A>G	c.(916-918)tAt>tGt	p.Y306C	DAAM1_uc001xea.1_Missense_Mutation_p.Y306C|DAAM1_uc001xeb.1_Missense_Mutation_p.Y306C	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	306	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin 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
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	uc002vmq.3	-	2	331	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	EPHA4_uc002vmr.2_Missense_Mutation_p.V97L|EPHA4_uc010zlm.1_Missense_Mutation_p.V38L	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	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	0	1	0	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	uc001ajb.1	-	10	1070	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	MORN1_uc009vld.3_Missense_Mutation_p.A326V	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	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	uc001vfw.2	-	1	590	c.433G>T	c.(433-435)Gtc>Ttc	p.V145F	ATP7B_uc001vfy.2_Missense_Mutation_p.V145F|ATP7B_uc010adv.2_Missense_Mutation_p.V145F|ATP7B_uc001vfx.2_Missense_Mutation_p.V145F|ATP7B_uc010tgt.1_Missense_Mutation_p.V145F|ATP7B_uc010tgu.1_Missense_Mutation_p.V145F|ATP7B_uc010tgv.1_Missense_Mutation_p.V145F|ATP7B_uc010tgw.1_Missense_Mutation_p.V113F	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	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					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108631736	108631736	+	Silent	SNP	G	G	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:108631736G>T	uc004eod.4	-	14	3214	c.2938C>A	c.(2938-2940)Cga>Aga	p.R980R	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc022cch.1_Silent_p.R980R	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	980	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGGCCAATTCGAATTCGGACC	0.453000													4	271					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	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				40	80					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	uc001thn.3	+	4	675	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	SCYL2_uc009ztw.1_Missense_Mutation_p.Q36K|SCYL2_uc001thm.1_Missense_Mutation_p.Q209K	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	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	Golgi apparatus|clathrin-coated vesicle|endosome membrane|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	0	1	0	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	uc003biy.3	-	5	950	c.676G>T	c.(676-678)Gct>Tct	p.A226S		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	226					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	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	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	uc001pdq.3	+	5	611	c.511C>T	c.(511-513)Caa>Taa	p.Q171*	CCDC67_uc001pdo.1_Nonsense_Mutation_p.Q171*|CCDC67_uc001pdp.3_Nonsense_Mutation_p.Q171*	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	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