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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
STOML3	161003	broad.mit.edu	37	13	39541133	39541133	+	Silent	SNP	G	A	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr13:39541133G>A	uc001uwx.3	-	6	843	c.705C>T	c.(703-705)tcC>tcT	p.S235S	STOML3_uc010tez.2_Silent_p.S226S	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	235						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CCAGCACCATGGAGGCTGACT	0.468000														37			9		0	0	0.004482	0	0
TRIM5	85363	broad.mit.edu	37	11	5686237	5686237	+	Silent	SNP	G	C	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr11:5686237G>C	uc001mbm.2	-	7	1587	c.1284C>G	c.(1282-1284)ccC>ccG	p.P428P	TRIM6-TRIM34_uc009yer.3_Intron|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Intron|TRIM5_uc001mbp.3_3'UTR	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	428	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCACAGAGAGGGGCACAATGA	0.418000														70			3		0	0	0.004672	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332133	100332133	+	RNA	SNP	C	T	T			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr15:100332133C>T	uc021sxl.1	-	1		c.1020G>A			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GGAGCCAATGCCCAGGAGGAG	0.592000														41			5		0	0	0.014758	0	0
SAMD1	90378	broad.mit.edu	37	19	14199308	14199308	+	Missense_Mutation	SNP	A	G	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:14199308A>G	uc010xnl.2	-	5	1220	c.1220T>C	c.(1219-1221)cTg>cCg	p.L407P		NM_138352	NP_612361	Q6SPF0	SAMD1_HUMAN	Homo sapiens sterile alpha motif domain containing 1 (SAMD1), mRNA.	513						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		GTAGATTTTCAGGGCTGGCCC	0.582000														67			3		0	0	0.004672	0	0
CDR2	1039	broad.mit.edu	37	16	22360757	22360757	+	Missense_Mutation	SNP	C	T	T			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr16:22360757C>T	uc002dkn.3	-	3	657	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	117						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCAATCGTTTCAGTCAGGCTG	0.512000														142			10		0	0	0.010729	0	0
DYRK4	8798	broad.mit.edu	37	12	4708955	4708955	+	Splice_Site	SNP	G	A	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr12:4708955G>A	uc009zeh.1	+	10	1168	c.1126_splice	c.e10+1	p.V376_splice	DYRK4_uc001qmx.3_Splice_Site_p.V261_splice|DYRK4_uc001qmy.2_Splice_Site_p.V261_splice|DYRK4_uc021qtq.1_Splice_Site_p.V115_splice	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	261	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CACCAGAAAGGTGAGCCCCAT	0.453000														62			18		0	0	0.014323	0	0
C1orf110	339512	broad.mit.edu	37	1	162824952	162824952	+	Missense_Mutation	SNP	G	C	C	rs150783672	by1000genomes	TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:162824952G>C	uc001gck.2	-	3	687	c.512C>G	c.(511-513)cCc>cGc	p.P171R	C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.P170R	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.	171										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GCCCTTGCTGGGGTCTACGTC	0.468000														220			4		0	0	0.021553	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016200	38016200	+	Missense_Mutation	SNP	C	G	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr4:38016200C>G	uc003gtb.3	+	2	846	c.488C>G	c.(487-489)tCc>tGc	p.S163C	TBC1D1_uc011byd.2_Missense_Mutation_p.S163C|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.S34C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	163						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CACTGCCCGTCCGAGTTCGAC	0.622000														120			28		0	0	0.008361	0	0
SLC15A1	6564	broad.mit.edu	37	13	99339859	99339859	+	Silent	SNP	C	G	G	rs146831294		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr13:99339859C>G	uc001vno.3	-	20	1880	c.1803G>C	c.(1801-1803)acG>acC	p.T601T		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	601					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ATTCCAATCCCGTGACAGAGA	0.423000														152			4		0	0	0.009096	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79069817	79069817	+	Missense_Mutation	SNP	C	G	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr15:79069817C>G	uc002bej.4	-	8	1647	c.1436G>C	c.(1435-1437)gGg>gCg	p.G479A	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.G479A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	479	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGAGTAGGCCCCGTACTGGAG	0.652000														16			3		0	0	0.004672	0	0
VMP1	81671	broad.mit.edu	37	17	57917128	57917128	+	Splice_Site	SNP	G	T	T			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr17:57917128G>T	uc002ixu.4	+	12	1351	c.1078_splice	c.e12-1	p.G360_splice	VMP1_uc010wog.2_Splice_Site_p.G168_splice|VMP1_uc010woh.2_Splice_Site_p.G304_splice|VMP1_uc010woi.2_Splice_Site_p.G263_splice|VMP1_uc010woj.2_Splice_Site_p.G226_splice|MIR21_uc002ixv.3_5'Flank	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	Homo sapiens vacuole membrane protein 1 (VMP1), mRNA.	360					autophagy|cell adhesion	ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TATTTCTACAGGGAGAAAACT	0.363000														289			9		0.000274275	0.000325067	0.004482	1	0
REEP3	221035	broad.mit.edu	37	10	65379435	65379435	+	Missense_Mutation	SNP	G	C	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr10:65379435G>C	uc001jmt.3	+	6	769	c.586G>C	c.(586-588)Gac>Cac	p.D196H		NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN	Homo sapiens receptor accessory protein 3 (REEP3), mRNA.	196						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCCACTGAAAGACGGAGATGA	0.428000														15			3		0	0	0.009096	0	0
MUC17	140453	broad.mit.edu	37	7	100677148	100677148	+	Silent	SNP	G	C	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr7:100677148G>C	uc003uxp.1	+	2	2504	c.2451G>C	c.(2449-2451)ccG>ccC	p.P817P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	817	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCATCACACCGGTGACCAGTC	0.488000														509			6		0	0	0.001984	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	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					30			13		0	0	0.013537	0	0
DENND2D	79961	broad.mit.edu	37	1	111741363	111741363	+	Splice_Site	SNP	C	G	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:111741363C>G	uc001eak.1	-	3	444	c.244_splice	c.e3-1	p.R82_splice	DENND2D_uc001eal.1_Splice_Site_p.R79_splice	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	82	UDENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CAGGTTCTCCCGCTATAAGGC	0.552000														38			3		0	0	0.004672	0	0
PFKP	5214	broad.mit.edu	37	10	3155654	3155654	+	Missense_Mutation	SNP	G	A	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr10:3155654G>A	uc001igp.3	+	12	1391	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	PFKP_uc001igq.3_Missense_Mutation_p.D431N|PFKP_uc009xhr.3_Missense_Mutation_p.D401N|PFKP_uc009xhs.1_Missense_Mutation_p.D223N|PFKP_uc009xht.3_Missense_Mutation_p.D177N|PFKP_uc009xhu.3_5'UTR	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	439					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GGGCATTGCCGACGGCCACAG	0.617000														21			10		0	0	0.008291	0	0
KCNU1	157855	broad.mit.edu	37	8	36698048	36698048	+	Missense_Mutation	SNP	G	A	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr8:36698048G>A	uc010lvw.3	+	14	1673	c.1586G>A	c.(1585-1587)cGt>cAt	p.R529H	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	529						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTGACCCAACGTCTCTCTGAT	0.403000														15			8		0	0	0.003080	0	0
LRP5	4041	broad.mit.edu	37	11	68201226	68201226	+	Missense_Mutation	SNP	G	C	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr11:68201226G>C	uc001ont.3	+	17	3995	c.3920G>C	c.(3919-3921)cGg>cCg	p.R1307P	LRP5_uc009ysg.3_Missense_Mutation_p.R717P	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1307	LDL-receptor class A 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGCGCGCGGGGTCAGTGT	0.711000														43			3		0	0	0.014758	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333582	37333582	+	Missense_Mutation	SNP	C	T	T			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr22:37333582C>T	uc003aqa.4	+	13	1949	c.1732C>T	c.(1732-1734)Cac>Tac	p.H578Y	CSF2RB_uc003aqc.4_Missense_Mutation_p.H584Y	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	578					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGCCGCCTCCCACACACCTGA	0.662000														18			7		0	0	0.003080	0	0
FBXO42	54455	broad.mit.edu	37	1	16577866	16577866	+	Missense_Mutation	SNP	G	C	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:16577866G>C	uc001ayg.3	-	9	1669	c.1453C>G	c.(1453-1455)Cga>Gga	p.R485G	FBXO42_uc001ayf.3_Missense_Mutation_p.R392G	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	485										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GATCCTCGTCGGGGGGCCAAA	0.483000														71			4		0	0	0.014758	0	0
PDS5A	23244	broad.mit.edu	37	4	39910084	39910084	+	Silent	SNP	G	T	T			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr4:39910084G>T	uc003guv.4	-	10	1704	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	PDS5A_uc003guw.4_Silent_p.A388A	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	388					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GGTCCCTCTTGGCAGCTGTTA	0.358000														208			96		3.61922e-38	4.63261e-38	0.014410	1	0
PLXNB3	5365	broad.mit.edu	37	X	153039673	153039673	+	Missense_Mutation	SNP	G	C	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chrX:153039673G>C	uc010nuk.2	+	21	3892	c.3621G>C	c.(3619-3621)gaG>gaC	p.E1207D	PLXNB3_uc004fii.2_Missense_Mutation_p.E1184D|PLXNB3_uc011mzd.1_Missense_Mutation_p.E823D|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.3_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1184	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCAAGGAGGAGGTGCGCG	0.711000														13			4		0	0	0.014758	0	0
RTCA	8634	broad.mit.edu	37	1	100752669	100752669	+	Missense_Mutation	SNP	G	C	C			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:100752669G>C	uc001dtd.3	+	10	1166	c.948G>C	c.(946-948)atG>atC	p.M316I	RTCA_uc001dtc.3_Missense_Mutation_p.M303I	NM_001130841	NP_001124313	O00442	RTC1_HUMAN	Homo sapiens RNA terminal phosphate cyclase domain 1 (RTCD1), transcript variant 1, mRNA.	303					RNA processing	mitochondrion|nucleoplasm	ATP binding|RNA binding|RNA-3'-phosphate cyclase activity|protein binding										TTGTTTTCATGGCATTAGCCA	0.338000														80			3		0	0	0.004672	0	0
CAND1	55832	broad.mit.edu	37	12	67704013	67704013	+	Missense_Mutation	SNP	C	G	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr12:67704013C>G	uc001stn.2	+	12	3714	c.3277C>G	c.(3277-3279)Cta>Gta	p.L1093V	CAND1_uc001sto.2_Missense_Mutation_p.L603V	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	1093					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GTACACACTTCTAGACAGTTG	0.343000														59			3		0	0	0.004672	0	0
ZNF577	84765	broad.mit.edu	37	19	52376484	52376484	+	Silent	SNP	C	A	A			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:52376484C>A	uc010yde.2	-	6	1150	c.759G>T	c.(757-759)cgG>cgT	p.R253R	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Silent_p.R194R|ZNF577_uc002pxv.3_Silent_p.R246R|ZNF577_uc002pxw.3_Silent_p.R187R	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H253Y(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCGGCACTTCCGGCTGAAGG	0.498000														29			12		2.80697e-09	3.45474e-09	0.010729	1	0
ZNF580	51157	broad.mit.edu	37	19	56153901	56153901	+	Silent	SNP	C	G	G			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr19:56153901C>G	uc002qlo.3	+	1	197	c.27C>G	c.(25-27)ccC>ccG	p.P9P	ZNF581_uc002qln.3_Intron|ZNF580_uc002qlp.3_Silent_p.P9P|ZNF580_uc010ygd.2_Silent_p.P9P|ZNF581_uc002qlq.3_5'Flank|ZNF581_uc021vcb.1_5'Flank	NM_207115	NP_996998	Q9UK33	ZN580_HUMAN	Homo sapiens zinc finger protein 580 (ZNF580), transcript variant 2, mRNA.	9	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGCGGCCACCCCACCCTCGGT	0.647000														36			3		0	0	0.004672	0	0
GALNT2	2590	broad.mit.edu	37	1	230203102	230203102	+	Frame_Shift_Del	DEL	G	-	-			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr1:230203102delG	uc010pwa.1	+	0	147	c.75delG	c.(73-75)tcgfs	p.S25fs	GALNT2_uc010pvy.1_Intron|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	25					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACATGTACTCGGGGGGCGGCT	0.771													---	4	---	---	2	---					
FAM83A	84985	broad.mit.edu	37	8	124219784	124219784	+	Frame_Shift_Del	DEL	G	-	-			TCGA-E8-A2EA-01A-11D-A17V-08	TCGA-E8-A2EA-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5cab1bb-ba14-4072-84f9-e3d3eaa2046f	6c7bc841-870d-438c-9692-1e6660eceb58	g.chr8:124219784delG	uc003ypv.3	+	4	3175	c.1161delG	c.(1159-1161)ccgfs	p.P387fs	FAM83A_uc003ypw.3_Intron|FAM83A_uc003ypx.3_Frame_Shift_Del_p.P387fs|FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Intron	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	387	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACCTCTCCCCGCGGCCCCACG	0.766													---	4	---	---	2	---					
