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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
GPC6	10082	broad.mit.edu	37	13	95055374	95055374	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr13:95055374G>A	uc001vlt.3	+	8	2203	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q		NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	524						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GATCCCGACCGGAGAGAGGTG	0.597													0	1	0	0	0	122	3
ATG2A	23130	broad.mit.edu	37	11	64677164	64677164	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr11:64677164G>A	uc001obx.3	-	13	2211	c.2096C>T	c.(2095-2097)tCc>tTc	p.S699F		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	699							protein binding	p.S699F(2)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGTAGGTCGGAGCAGGTGAG	0.632													0	1	0	0	0	115	5
TRPV3	162514	broad.mit.edu	37	17	3458080	3458080	+	Missense_Mutation	SNP	T	C	C			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr17:3458080T>C	uc002fvr.2	-	1	387	c.65A>G	c.(64-66)aAc>aGc	p.N22S	TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.N22S|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Missense_Mutation_p.N22S	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	22						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATGGCAGGGTTCCCACTGGG	0.622													0	1	0	0	0	70	3
COL25A1	84570	broad.mit.edu	37	4	109745340	109745340	+	Missense_Mutation	SNP	T	C	C			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr4:109745340T>C	uc021xqo.1	-	33	1891	c.1835A>G	c.(1834-1836)aAg>aGg	p.K612R	COL25A1_uc003hze.1_Missense_Mutation_p.K612R|COL25A1_uc021xqp.1_Missense_Mutation_p.K612R|COL25A1_uc003hzg.3_Missense_Mutation_p.K612R|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.K400R	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	612	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTTCTCCCTTTTCTCCTAG	0.438													0	1	0	0	0	108	3
ADCY9	115	broad.mit.edu	37	16	4164430	4164430	+	Missense_Mutation	SNP	C	A	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr16:4164430C>A	uc002cvx.3	-	1	1553	c.1014G>T	c.(1012-1014)atG>atT	p.M338I		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	338					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGATTCTTGGCATCACGGAAT	0.502													1.08E-07	1	1.02E-07	0	1	169	4
SPPL2C	162540	broad.mit.edu	37	17	43923926	43923926	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr17:43923926G>A	uc010wka.2	+	0	1671	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	552						integral to membrane	aspartic-type endopeptidase activity										GCAGGAGGGCGCAGCAGATGC	0.612													0	1	0	0	0	55	3
GOLGA2	2801	broad.mit.edu	37	9	131019439	131019439	+	Silent	SNP	G	A	A	rs150141269	byFrequency	TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr9:131019439G>A	uc011maw.2	-	25	2929	c.2916C>T	c.(2914-2916)aaC>aaT	p.N972N	GOLGA2_uc010mxw.3_Silent_p.N295N|GOLGA2_uc004buh.3_Silent_p.N322N|DQ583972_uc022boe.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	972						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GCTCCCGGGGGTTCTGCATCT	0.592													0	1	0	0	0	97	3
RNF170	81790	broad.mit.edu	37	8	42716925	42716925	+	Missense_Mutation	SNP	T	G	G			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr8:42716925T>G	uc003xpo.3	-	5	947	c.470A>C	c.(469-471)aAt>aCt	p.N157T	RNF170_uc011lcx.2_Intron|RNF170_uc003xpp.3_Missense_Mutation_p.N61T|RNF170_uc003xpn.3_Missense_Mutation_p.N61T|RNF170_uc010lxp.3_Missense_Mutation_p.N73T|RNF170_uc003xpm.3_Missense_Mutation_p.N157T|RNF170_uc003xpq.4_Missense_Mutation_p.N157T	NM_001160223	NP_001153697	Q96K19	RN170_HUMAN	Homo sapiens ring finger protein 170 (RNF170), transcript variant 1, mRNA.	157						integral to membrane	zinc ion binding			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTTATAATCATTAATATCCTG	0.348													0	1	0	0	0	64	16
ALG13	79868	broad.mit.edu	37	X	110952238	110952238	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:110952238G>A	uc011msy.2	+	4	897	c.796G>A	c.(796-798)Gtc>Atc	p.V266I	ALG13_uc011msw.2_Missense_Mutation_p.V188I|ALG13_uc011msx.2_Missense_Mutation_p.V162I|ALG13_uc011msz.2_Missense_Mutation_p.V188I|ALG13_uc011mta.2_Missense_Mutation_p.V162I|ALG13_uc011mtb.2_Missense_Mutation_p.V162I	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	266	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						GAAGGCTTGTGTCTCATATAT	0.398													0	1	0	0	0	6	7
BRIX1	55299	broad.mit.edu	37	5	34915926	34915926	+	Missense_Mutation	SNP	C	A	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr5:34915926C>A	uc003jja.3	+	0	107	c.83C>A	c.(82-84)cCg>cAg	p.P28Q	RAD1_uc003jiw.3_5'Flank|RAD1_uc003jix.3_5'Flank|RAD1_uc003jiy.3_Intron|BRIX1_uc003jiz.3_Missense_Mutation_p.P28Q|BRIX1_uc011col.1_Missense_Mutation_p.P28Q	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.	28					ribosome biogenesis|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GATGCGGAGCCGCCAGCTAAG	0.617													1	1	1	0	1	5	2
GPR39	2863	broad.mit.edu	37	2	133402697	133402697	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr2:133402697G>A	uc002ttl.3	+	1	1349	c.880G>A	c.(880-882)Gta>Ata	p.V294I	LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	294						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	p.V294I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACATTGGCCGTATGCTGGAT	0.527													0	1	0	0	0	89	3
PDHA1	5160	broad.mit.edu	37	X	19369470	19369470	+	Silent	SNP	C	T	T			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:19369470C>T	uc004czg.4	+	3	508	c.363C>T	c.(361-363)caC>caT	p.H121H	PDHA1_uc004czh.4_Silent_p.H159H|PDHA1_uc011mjc.2_Silent_p.H128H|PDHA1_uc011mjd.2_Silent_p.H121H	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	121					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	ACCGGGCTCACGGCTTTACTT	0.517													0	1	0	0	0	206	11
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	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	0.368	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				0	1	0	0	0	70	30
ESR1	2099	broad.mit.edu	37	6	152332842	152332842	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr6:152332842G>A	uc010kio.3	+	5	1372	c.1154G>A	c.(1153-1155)tGg>tAg	p.W385*	ESR1_uc003qom.4_Nonsense_Mutation_p.W383*|ESR1_uc010kin.3_Nonsense_Mutation_p.W383*|ESR1_uc010kip.3_Nonsense_Mutation_p.W382*|ESR1_uc003qon.4_Nonsense_Mutation_p.W383*|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Nonsense_Mutation_p.W383*|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Nonsense_Mutation_p.W98*|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Nonsense_Mutation_p.W164*|ESR1_uc010kit.1_Intron|ESR1_uc011eey.2_Nonsense_Mutation_p.W120*	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	383	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GAATGTGCCTGGCTAGAGATC	0.488													0	1	0	0	0	133	3
RAB41	347517	broad.mit.edu	37	X	69502665	69502665	+	Missense_Mutation	SNP	T	C	C			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:69502665T>C	uc010nkv.3	+	2	240	c.194T>C	c.(193-195)aTt>aCt	p.I65T		NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN	Homo sapiens RAB41, member RAS oncogene family (RAB41), mRNA.	66					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						ACTGTTGGAATTGACTTCTTG	0.433													0	1	0	0	0	201	7
TAT	6898	broad.mit.edu	37	16	71607459	71607459	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr16:71607459delC	uc002fap.2	-	3	490	c.391delG	c.(391-393)gcafs	p.A131fs		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	131					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TCTAGGGGTGCCTCAGGACAG	0.438																		4	2
UTP14C	9724	broad.mit.edu	37	13	52602984	52602985	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr13:52602984_52602985delAG	uc001vgb.3	+	1	606_607	c.44_45delAG	c.(43-45)cagfs	p.Q15fs	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Frame_Shift_Del_p.Q15fs	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	15					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TTGAGCCACCAGGAAGAACTAG	0.470																		46	25
