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
RCVRN	5957	broad.mit.edu	37	17	9801501	9801501	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr17:9801501A>G	ENST00000226193.5	-	3	954	c.514T>C	c.(514-516)Ttc>Ctc	p.F172L	RCVRN_ENST00000570909.2_Missense_Mutation_p.F41L	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	172	EF-hand 4.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CCCTCAATGAATTCTTTCTCT	0.413000													46	99					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131817823	131817823	+	Silent	SNP	G	G	T			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr7:131817823G>T	ENST00000359827.3	-	31	6536	c.5574C>A	c.(5572-5574)ggC>ggA	p.G1858G	PLXNA4_ENST00000321063.4_Silent_p.G1858G			Q9HCM2	PLXA4_HUMAN	plexin A4	1858						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGCTGTATTTGCCCACATAGG	0.522000													4	67					0.150653	0.150653	1	1	0
CSF2RA	0	broad.mit.edu	37	X	1428413	1428413	+	Silent	SNP	C	C	T			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chrX:1428413C>T	ENST00000355432.3	+	11	1214	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000417535.2_3'UTR	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCTCCGCCTCCGCGACACGGG	0.498000													9	152					0	0	1	0	0
GLA	2717	broad.mit.edu	37	X	100658838	100658838	+	Silent	SNP	A	A	C			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chrX:100658838A>C	ENST00000218516.3	-	2	351	c.330T>G	c.(328-330)ccT>ccG	p.P110P	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000493905.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	110					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	GAAAGCGCTGAGGGTCTGCCT	0.463000													8	94					0	0	1	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600261	116600261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr6:116600261G>A	ENST00000368608.3	-	1	805	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	245					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTGTCGGCCTGAGCATTCACA	0.597000													20	36					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864423	153864423	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr4:153864423A>C	ENST00000511601.1	+	2	402	c.214A>C	c.(214-216)Atc>Ctc	p.I72L	FHDC1_ENST00000260008.3_Missense_Mutation_p.I72L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	72					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGAGCCTCCCATCCCACCTCC	0.557000													4	29					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548923	158548923	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr1:158548923G>T	ENST00000368150.1	-	1	766	c.767C>A	c.(766-768)aCc>aAc	p.T256N		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T256S(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGAGGCACAGGTGGTGAAGGC	0.483000													7	132					0.0293803	0.0305104	1	1	0
OR4L1	122742	broad.mit.edu	37	14	20528213	20528213	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr14:20528213A>T	ENST00000315683.1	+	1	10	c.10A>T	c.(10-12)Aaa>Taa	p.K4*		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AATGGATCTTAAAAATGGATC	0.318000													5	94					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176673763	176673763	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr5:176673763A>G	ENST00000439151.2	+	10	4508	c.4463A>G	c.(4462-4464)aAt>aGt	p.N1488S	NSD1_ENST00000347982.4_Missense_Mutation_p.N1219S|NSD1_ENST00000354179.4_Missense_Mutation_p.N1219S|NSD1_ENST00000361032.4_Missense_Mutation_p.N1385S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1488					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAAGTGAAAAATGATGACTCG	0.428000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			16	27					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42114280	42114280	+	Silent	SNP	C	C	T			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr15:42114280C>T	ENST00000457542.2	+	25	3289	c.3003C>T	c.(3001-3003)tgC>tgT	p.C1001C	MAPKBP1_ENST00000221214.6_Silent_p.C884C|MAPKBP1_ENST00000514566.1_Silent_p.C1001C|MAPKBP1_ENST00000456763.2_Silent_p.C1007C|MAPKBP1_ENST00000260357.7_Silent_p.C840C	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1007										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCAGCAGCTGCCTTTCCAGCC	0.647000													6	10					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	38					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17720532	17720532	+	RNA	SNP	C	C	T			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr1:17720532C>T	ENST00000434762.2	+	0	1187							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATCCTCGACACACCTCAGGCC	0.542000													6	29					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	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				23	38					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176431	112176431	+	Missense_Mutation	SNP	G	G	T	rs148275069		TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr5:112176431G>T	ENST00000457016.1	+	16	5520	c.5140G>T	c.(5140-5142)Gat>Tat	p.D1714Y	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D1714Y|APC_ENST00000508376.2_Missense_Mutation_p.D1714Y			P25054	APC_HUMAN	adenomatous polyposis coli	1714	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACCTGAATTGGATGACAATAA	0.403000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			10	28					3.86212e-05	4.17109e-05	1	1	0
SEPT7P9	0	broad.mit.edu	37	10	38681759	38681762	+	RNA	DEL	TTTG	TTTG	-			TCGA-DJ-A4UW-01A-11D-A257-08	TCGA-DJ-A4UW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9efac75-394f-40a0-91bf-70bd024facda	a4ec77c8-d042-493a-9975-a87d25a8a93d	g.chr10:38681759_38681762delTTTG	ENST00000489259.1	-	0	348																											GTTAAACTTCTTTGTTTAACTTTG	0.279													4	4	---	---	---	---