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
MS4A3	932	broad.mit.edu	37	11	59830060	59830060	+	Silent	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:59830060G>A	ENST00000278865.3	+	3	349	c.276G>A	c.(274-276)ccG>ccA	p.P92P	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Intron|MS4A3_ENST00000534744.1_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	92						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAGGCTACCCGATTTGGGGTG	0.423000													47	57					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518058	123518058	+	Silent	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:123518058C>T	ENST00000422452.2	-	30	6786	c.6723G>A	c.(6721-6723)ctG>ctA	p.L2241L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.L2234L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGGCTTTCTGCAGCAGGCCAT	0.458000													47	65					0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89755723	89755723	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr16:89755723G>A	ENST00000353379.7	+	2	194	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron|CDK10_ENST00000514965.1_3'UTR	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	51	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GGGTACCTACGGCATTGTGTG	0.582000													28	41					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122684844	122684844	+	Silent	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:122684844G>A	ENST00000339777.4	+	8	1486	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	LRRC43_ENST00000425921.1_Silent_p.L301L	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	486										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTTCCTGCTGGCGGGGACCA	0.627000													6	108					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115109342	115109342	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:115109342T>C	ENST00000452722.3	-	3	322	c.302A>G	c.(301-303)aAt>aGt	p.N101S	CADM1_ENST00000536727.1_Missense_Mutation_p.N101S|CADM1_ENST00000542447.2_Missense_Mutation_p.N101S|CADM1_ENST00000537058.1_Missense_Mutation_p.N101S|CADM1_ENST00000331581.6_Missense_Mutation_p.N101S|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTAGAAAAATTCAGCAACTG	0.393000													27	27					0	0	1	0	0
CIDECP	152302	broad.mit.edu	37	3	10059658	10059658	+	RNA	SNP	G	G	T	rs9862221	by1000genomes	TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr3:10059658G>T	ENST00000432401.1	-	0	505																											GGGGATGCCCGTCCTCTGTGG	0.597000													5	102					0.184627	0.184627	1	1	0
BBS7	55212	broad.mit.edu	37	4	122756377	122756377	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr4:122756377G>T	ENST00000264499.4	-	14	1616	c.1433C>A	c.(1432-1434)cCc>cAc	p.P478H	BBS7_ENST00000506636.1_Missense_Mutation_p.P478H	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	478					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACAGGTTTTGGGTTGAATTCT	0.393000									Bardet-Biedl syndrome				18	44					5.3912e-06	5.81683e-06	1	1	0
IL18	3606	broad.mit.edu	37	11	112014361	112014361	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:112014361C>A	ENST00000280357.7	-	6	759	c.540G>T	c.(538-540)ttG>ttT	p.L180F	IL18_ENST00000524595.1_Missense_Mutation_p.L176F|SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Missense_Mutation_p.L180F	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	180					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						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)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		ATCTATCCCCCAATTCATCCT	0.388000													6	10					0.0215528	0.0220916	1	1	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													4	72					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91445220	91445220	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:91445220T>C	ENST00000266719.3	-	3	1209	c.962A>G	c.(961-963)cAt>cGt	p.H321R		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	321					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTAGCGAAGATGAGGTCCATA	0.438000													12	28					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152485384	152485384	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:152485384C>T	ENST00000367255.5	-	131	24305	c.23704G>A	c.(23704-23706)Gct>Act	p.A7902T	SYNE1_ENST00000356820.4_Missense_Mutation_p.A2426T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7831T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7902T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7831T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A57T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A57T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A7514T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7902					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCGATGTGAGCGAGCCAGGTC	0.502000										HNSCC(10;0.0054)			58	25					0	0	1	0	0
RENBP	5973	broad.mit.edu	37	X	153208518	153208518	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:153208518T>G	ENST00000393700.3	-	6	556	c.476A>C	c.(475-477)gAg>gCg	p.E159A	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.E159A|RENBP_ENST00000369997.3_Missense_Mutation_p.E145A	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	159					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ATCCATCATCTCCACCGCTTC	0.711000													21	20					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350844	71350844	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:71350844C>T	ENST00000545866.1	-	1	914	c.547G>A	c.(547-549)Ggg>Agg	p.G183R	RGAG4_ENST00000609883.1_Missense_Mutation_p.G183R|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	183										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCGGCGCCCCCGGGGAAATGA	0.582000													4	69					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67414334	67414334	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:67414334G>C	ENST00000355520.5	-	13	1752	c.1111C>G	c.(1111-1113)Cac>Gac	p.H371D	OPHN1_ENST00000540071.1_Missense_Mutation_p.H371D	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	371					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ATAGGGCTGTGGTAGATCTAC	0.348000													19	25					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107979043	107979043	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:107979043C>G	ENST00000372129.2	-	1	608	c.532G>C	c.(532-534)Gcg>Ccg	p.A178P		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	178	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCACCATCGCGAAGTATTCG	0.612000													27	68					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593263	179593263	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:179593263C>T	ENST00000589042.1	-	66	19614	c.19390G>A	c.(19390-19392)Gga>Aga	p.G6464R	TTN_ENST00000591111.1_Missense_Mutation_p.G6147R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5220R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6147	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTGCTTCCGAAGTCATTT	0.398000													5	14					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100911318	100911318	+	Silent	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:100911318C>T	ENST00000369208.3	-	2	809	c.27G>A	c.(25-27)gcG>gcA	p.A9A	SIM1_ENST00000262901.4_Silent_p.A9A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	9					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCCTAGTCCGCGCAGCATTTT	0.423000													24	148					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102641101	102641101	+	Silent	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:102641101G>A	ENST00000332549.3	+	7	1087	c.858G>A	c.(856-858)ccG>ccA	p.P286P	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Silent_p.P286P|IL1R2_ENST00000441002.1_Silent_p.P286P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	286	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GCGCCTACCCGGGAGGCCGCG	0.572000													4	75					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113788702	113788702	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:113788702C>T	ENST00000259213.4	-	3	151	c.44G>A	c.(43-45)cGt>cAt	p.R15H	IL36B_ENST00000327407.2_Missense_Mutation_p.R15H	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	15					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TCGAGAATCACGAATAGCATA	0.478000													17	40					0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186501406	186501406	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr3:186501406G>T	ENST00000323963.5	+	1	71	c.7G>T	c.(7-9)Ggt>Tgt	p.G3C	EIF4A2_ENST00000356531.5_5'UTR|EIF4A2_ENST00000440191.2_Missense_Mutation_p.G3C|RP11-573D15.9_ENST00000577781.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	3					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GATCATGTCTGGTGGCTCCGC	0.572000			T	BCL6	NHL								53	86					7.89702e-26	8.75075e-26	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								29	44					0	0	1	0	0
GNAL	2774	broad.mit.edu	37	18	11880999	11880999	+	Silent	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr18:11880999G>A	ENST00000334049.6	+	12	1850	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	GNAL_ENST00000269162.5_Silent_p.T337T|GNAL_ENST00000423027.3_Silent_p.T337T|GNAL_ENST00000602628.1_Silent_p.T130T|GNAL_ENST00000535121.1_Silent_p.T337T	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	337					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGATCAGCACGGCCACCGGTG	0.622000													26	47					0	0	1	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461352	10461352	+	Silent	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr5:10461352C>T	ENST00000503804.1	+	5	995	c.474C>T	c.(472-474)ggC>ggT	p.G158G	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Silent_p.G158G			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	158					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						ATCCGGAGGGCGGGCCCGCTC	0.567000													53	87					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698494	96698494	+	Missense_Mutation	SNP	C	C	A	rs67807361		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr10:96698494C>A	ENST00000260682.6	+	1	67	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	19			L -> I (in allele CYP2C9*7).		exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCTCCTTTCACTCTGGAGACA	0.473000													5	119					3.59834e-05	3.78287e-05	1	1	0
FLJ33360	401172	broad.mit.edu	37	5	6337066	6337067	+	RNA	DEL	AC	AC	-			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr5:6337066_6337067delAC	ENST00000507444.1	-	0	143					NR_028351.1																						acacatacatacacacacacac	0.475													4	7	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28913366	28913367	+	RNA	INS	-	-	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr15:28913366_28913367insT	ENST00000528584.1	+	0	1224					NR_036443.1																						TTGAGTTCTCCTTTTTTTTTTT	0.307													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578471	7578471	+	Frame_Shift_Del	DEL	G	G	-	rs137852790		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr17:7578471delG	ENST00000420246.2	-	5	591	c.459delC	c.(457-459)cccfs	p.P153fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	153	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P153P(7)|p.T150fs*16(6)|p.?(5)|p.P152fs*14(5)|p.P153fs*26(2)|p.G154fs*27(2)|p.P153fs*22(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.P151_V173del23(1)|p.P153_G154insX(1)|p.D148fs*23(1)|p.T150_P153delTPPP(1)|p.T18fs*16(1)|p.Q144fs*16(1)|p.S149fs*72(1)|p.T57fs*16(1)|p.P152fs*27(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCGGGTGCCGGGCGGGGGTG	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			70	28	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76813062	76813063	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:76813062_76813063insAG	ENST00000373344.5	-	30	6772_6773	c.6558_6559insCT	c.(6556-6561)tcttttfs	p.F2187fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F2149fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2187	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACAACTCGAAAAGACAGTGACT	0.347			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						65	100	---	---	---	---					
