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
FBN2	2201	broad.mit.edu	37	5	127640762	127640762	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:127640762C>A	ENST00000508053.1	-	51	6661	c.5687G>T	c.(5686-5688)tGt>tTt	p.C1896F	FBN2_ENST00000262464.4_Missense_Mutation_p.C1896F			P35556	FBN2_HUMAN	fibrillin 2	1896	EGF-like 31; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AATTTCTAAACATTCATTGCG	0.353000													3	32					0.115264	0.117665	1	1	0
MUC16	94025	broad.mit.edu	37	19	9088746	9088746	+	Silent	SNP	T	T	C			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:9088746T>C	ENST00000397910.4	-	1	3272	c.3069A>G	c.(3067-3069)acA>acG	p.T1023T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1023	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTCTGTTGTGAGGATGG	0.468000													81	122					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138676392	138676392	+	Silent	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr9:138676392G>A	ENST00000298480.5	+	26	3029	c.2955G>A	c.(2953-2955)aaG>aaA	p.K985K	KCNT1_ENST00000371757.2_Silent_p.K985K|KCNT1_ENST00000488444.2_Silent_p.K966K|KCNT1_ENST00000263604.3_Silent_p.K966K|KCNT1_ENST00000487664.1_Silent_p.K940K|KCNT1_ENST00000486577.2_Silent_p.K944K|KCNT1_ENST00000490355.2_Silent_p.K964K|KCNT1_ENST00000491806.2_Silent_p.K952K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	985						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTTCGTGAAGGACTACATGA	0.697000													10	6					0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42710402	42710402	+	Silent	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr21:42710402C>T	ENST00000398652.3	+	4	444	c.378C>T	c.(376-378)taC>taT	p.Y126Y	FAM3B_ENST00000398647.3_Silent_p.Y39Y|FAM3B_ENST00000357985.2_Silent_p.Y87Y|FAM3B_ENST00000398646.3_Silent_p.Y110Y|FAM3B_ENST00000479810.2_3'UTR			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	87					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GAAGCAAGTACGCCAAAATCT	0.502000													38	56					0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180661549	180661549	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:180661549G>A	ENST00000315073.5	+	6	2377	c.1667G>A	c.(1666-1668)gGc>gAc	p.G556D	TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	556	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCACCAACGGCAAACGCTAT	0.657000													4	151					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34139764	34139764	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr11:34139764G>A	ENST00000257829.3	+	7	801	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	NAT10_ENST00000527971.1_Missense_Mutation_p.V199I|NAT10_ENST00000531159.2_Missense_Mutation_p.V127I	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	199						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAGTGTCTCGTCATTGATGA	0.532000													43	49					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73520287	73520287	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:73520287A>G	ENST00000418310.1	+	6	883	c.781A>G	c.(781-783)Atc>Gtc	p.I261V	LIMK1_ENST00000538333.3_Missense_Mutation_p.I197V|LIMK1_ENST00000336180.2_Missense_Mutation_p.I231V			P53667	LIMK1_HUMAN	LIM domain kinase 1	231					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TGGCACGCCCATCCGAAATGT	0.607000													42	51					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727267	69727267	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr16:69727267C>T	ENST00000349945.1	+	14	4809	c.3257C>T	c.(3256-3258)gCa>gTa	p.A1086V	NFAT5_ENST00000393742.2_Missense_Mutation_p.A1086V|NFAT5_ENST00000566899.1_Missense_Mutation_p.A1086V|NFAT5_ENST00000354436.2_Missense_Mutation_p.A1162V|NFAT5_ENST00000432919.1_Missense_Mutation_p.A1180V|NFAT5_ENST00000567239.1_Missense_Mutation_p.A1179V	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1162					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCATTTTTTGCAGCACCGAAC	0.428000													4	171					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909179	65909179	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:65909179G>T	ENST00000321892.4	+	13	5618	c.5557G>T	c.(5557-5559)Gac>Tac	p.D1853Y	BPTF_ENST00000306378.6_Missense_Mutation_p.D1727Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D1714Y|BPTF_ENST00000335221.5_Missense_Mutation_p.D1853Y			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1853					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCTAATGATGACTTAAAAAA	0.398000													4	121					1	1	1	1	0
PDGFRL	5157	broad.mit.edu	37	8	17447012	17447012	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:17447012A>G	ENST00000541323.1	+	3	536	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	PDGFRL_ENST00000398074.3_Missense_Mutation_p.K31E|PDGFRL_ENST00000251630.6_Missense_Mutation_p.K31E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	31						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CAAGCGTCCAAAAGAACCAGG	0.428000													101	138					0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103432819	103432819	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:103432819C>A	ENST00000493442.1	+	5	994	c.828C>A	c.(826-828)agC>agA	p.S276R	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	276	Ser-rich.									breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GTGGAGTGAGCGGTGCCAGTG	0.552000													4	98					0.00909568	0.00968888	1	1	0
OR5M8	219484	broad.mit.edu	37	11	56258374	56258374	+	Missense_Mutation	SNP	T	T	C	rs142719978		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr11:56258374T>C	ENST00000327216.2	-	1	497	c.473A>G	c.(472-474)gAg>gGg	p.E158G		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCACATGGTCTCCATCAGGCC	0.512000													48	75					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752352	36752352	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr1:36752352G>A	ENST00000354618.5	+	4	745	c.521G>A	c.(520-522)cGc>cAc	p.R174H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	174	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTTCTAAGCGCAAGTCTGCA	0.517000			T	USP6	aneurysmal bone cysts								5	394					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29121270	29121270	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr18:29121270A>G	ENST00000261590.8	+	13	2203	c.1994A>G	c.(1993-1995)gAa>gGa	p.E665G		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	665					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GCACCACCTGAAGACAAGGTC	0.473000													9	39					0	0	1	0	0
CSF2RA	0	broad.mit.edu	37	X	1413343	1413343	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:1413343G>A	ENST00000381524.3	+	8	955	c.769G>A	c.(769-771)Gtc>Atc	p.V257I	CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V257I|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V124I|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V257I			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	257						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)	CCAGCTGGACGTCCACAGAAA	0.632000													43	71					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618795	52618795	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:52618795C>G	ENST00000600228.1	-	4	1883	c.1622G>C	c.(1621-1623)aGa>aCa	p.R541T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGTATGAATTCTCCGATGCCT	0.443000													35	61					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			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								21	53					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692401	20692401	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr14:20692401T>C	ENST00000315519.2	+	1	611	c.533T>C	c.(532-534)aTt>aCt	p.I178T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CCAGTCCCTATTGTTCTTATC	0.502000													21	19					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9588459	9588459	+	Silent	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:9588459C>T	ENST00000310430.6	+	14	2087	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P	TNKS_ENST00000518281.1_Silent_p.P450P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	687					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATTCCACGCCCTTACACTTCG	0.498000													31	53					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:7578235T>G	ENST00000420246.2	-	6	746	c.614A>C	c.(613-615)tAt>tCt	p.Y205S	TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S|TP53_ENST00000445888.2_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000269305.4_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)		GTCATCCAAATACTCCACACG	0.542000		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)			57	9					0	0	1	0	0
LILRB4	0	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:55179342C>T	ENST00000391736.1	+	14	1534	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	407						integral to membrane|plasma membrane	antigen binding|receptor activity	p.P407S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATCTGAAGCCCCCCAGGATGT	0.647000													5	131					0	0	1	0	0
TRBV5-4	0	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													3	30					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640627	3640627	+	Silent	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr16:3640627G>A	ENST00000294008.3	-	12	3652	c.3012C>T	c.(3010-3012)ccC>ccT	p.P1004P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1004	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTTGTTCCTCGGGCTCACTTG	0.577000								Direct reversal of damage					13	100					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121206326	121206326	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr3:121206326C>T	ENST00000264233.5	-	16	5580	c.5452G>A	c.(5452-5454)Gcc>Acc	p.A1818T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1818					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGCTTGAGGCTGGAGTTAAC	0.398000								DNA polymerases (catalytic subunits)					5	114					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	44					0	0	1	0	0
LINC00477	0	broad.mit.edu	37	12	24736734	24736734	+	RNA	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr12:24736734G>A	ENST00000483544.1	-	0	368					NR_029451.2																						AGGCGAAGAAGAAAAAAAAAT	0.567000													7	84					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154002608	154002608	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:154002608C>T	ENST00000332007.3	+	1	414	c.29C>T	c.(28-30)tCg>tTg	p.S10L	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Missense_Mutation_p.S10L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000406326.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCAAGCGCTTCGGGGAAATCC	0.607000													3	16					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195398250	195398250	+	RNA	SNP	C	C	A	rs80193871	by1000genomes	TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr3:195398250C>A	ENST00000445430.1	+	0	1088																											GCACCGCTCGCCCTCACCTTC	0.572000													3	29					0.00198382	0.00220925	1	1	0
KRT82	3888	broad.mit.edu	37	12	52795111	52795111	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr12:52795111G>A	ENST00000257974.2	-	3	720	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	215	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ACACAGGGACGCAGGGAGAGC	0.532000													4	82					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135382574	135382574	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:135382574T>C	ENST00000442011.2	+	5	655	c.494T>C	c.(493-495)aTt>aCt	p.I165T	TGFBI_ENST00000305126.8_Missense_Mutation_p.I165T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	165	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATGTCAACATTGAGCTGCTC	0.537000													3	34					0	0	1	0	0
ACER2	340485	broad.mit.edu	37	9	19435024	19435024	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr9:19435024A>G	ENST00000340967.2	+	4	471	c.445A>G	c.(445-447)Atc>Gtc	p.I149V	ACER2_ENST00000380376.1_Missense_Mutation_p.I100V	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	149					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CATCAACAACATCTCTCTGAT	0.537000													16	107					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699246	17699246	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:17699246G>A	ENST00000353383.1	+	3	3453	c.2984G>A	c.(2983-2985)gGc>gAc	p.G995D	RAI1_ENST00000261641.6_Missense_Mutation_p.G995D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	995						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTGCCACGGGGCAAAAGCTTA	0.662000													3	37					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	156932027	156932027	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:156932027A>G	ENST00000348165.5	+	1	421	c.61A>G	c.(61-63)Agg>Ggg	p.R21G	UBE3C_ENST00000389103.4_Missense_Mutation_p.R21G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	21	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGGCGCGAGCAGGAAGGTGAG	0.751000													4	45					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719044	40719044	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:40719044T>C	ENST00000253055.3	+	8	2074	c.1786T>C	c.(1786-1788)Tcc>Ccc	p.S596P		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	596					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCTGGGCAAGTCCCCCAAACA	0.612000													7	9					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	86001154	86001154	+	Silent	SNP	C	C	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr10:86001154C>T	ENST00000372105.3	-	1	63	c.42G>A	c.(40-42)gcG>gcA	p.A14A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	14						integral to endoplasmic reticulum membrane		p.A14A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGGGGGCCACGCAAGGGCCA	0.672000													16	22					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81641895	81641895	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr15:81641895A>G	ENST00000558726.1	-	11	1235	c.1100T>C	c.(1099-1101)gTc>gCc	p.V367A	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.V366A			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	366						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GACGAGGGAGACCACCACACT	0.552000													8	14					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41739418	41739418	+	Splice_Site	SNP	G	G	T			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr22:41739418G>T	ENST00000352645.4	+	13	1554		c.e13-1		ZC3H7B_ENST00000351589.4_Splice_Site	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B						interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTGCCCATAGGCCCCCGGGC	0.617000													4	136					0.00909568	0.00968888	1	1	0
HTRA2	27429	broad.mit.edu	37	2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)ggcfs	p.G18fs	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													8	144	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													7	223	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401													4	9	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													4	9	---	---	---	---					
AGAP11	119385	broad.mit.edu	37	10	88767686	88767686	+	RNA	DEL	T	T	-	rs71019446		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr10:88767686delT	ENST00000444431.1	+	0	2711				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AAAATGTATCttttttttttt	0.413													3	4	---	---	---	---					
NIPA1	123606	broad.mit.edu	37	15	23086365	23086367	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr15:23086365_23086367delGCC	ENST00000337435.4	-	1	69_71	c.45_47delGGC	c.(43-48)gcc>gc	p.AA15del	NIPA1_ENST00000437912.2_Intron|NIPA1_ENST00000561183.1_Intron	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	15					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCCTCCCCGgccgccgccgccg	0.818													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						29	3	---	---	---	---					
