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
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													4	157					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21237441	21237441	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr2:21237441C>G	ENST00000233242.1	-	24	3848	c.3721G>C	c.(3721-3723)Gca>Cca	p.A1241P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1241					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCCAGATGCCTTCTGAAGC	0.453000													4	58					0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236645924	236645924	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:236645924G>A	ENST00000359362.5	+	6	807	c.593G>A	c.(592-594)cGt>cAt	p.R198H	EDARADD_ENST00000334232.4_Missense_Mutation_p.R208H	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	208	Death.				cell differentiation|signal transduction	cytoplasm		p.R208L(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAGCGGGAGCGTGGAGACCCC	0.582000													4	54					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179028901	179028901	+	Silent	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr5:179028901G>A	ENST00000319449.4	+	15	1782	c.1770G>A	c.(1768-1770)cgG>cgA	p.R590R	RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000393438.2_Silent_p.R482R|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000437570.2_Silent_p.R482R	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	590					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGTTGCGGGAGCTTCAGG	0.478000										HNSCC(44;0.11)			37	62					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113514767	113514767	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr3:113514767C>T	ENST00000273398.3	+	11	1379	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.A391V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	424					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTACATCTGCCACTCTTGGT	0.383000													18	38					0	0	1	0	0
C15orf38	348110	broad.mit.edu	37	15	90446605	90446605	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr15:90446605A>G	ENST00000357484.5	-	5	635	c.515T>C	c.(514-516)tTg>tCg	p.L172S	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.L172S|C15orf38_ENST00000460685.1_Missense_Mutation_p.L76S	NM_182616.2	NP_872422.1			chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			AAGTTTGGCCAATGAATCTGA	0.502000													34	55					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170476982	170476982	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:170476982C>T	ENST00000439128.2	-	17	2091	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	NEK1_ENST00000512193.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.R484H|NEK1_ENST00000511633.1_Intron|NEK1_ENST00000510533.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	484					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R484H(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAATCCTGGACGAACTCCAGG	0.413000													7	63					0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466676	57466676	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr11:57466676T>C	ENST00000287169.3	+	11	3130	c.1768T>C	c.(1768-1770)Tca>Cca	p.S590P	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S537P	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	590						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CTCAGATGATTCAAAGAGATC	0.607000													44	55					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													5	41					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64527574	64527574	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr3:64527574G>A	ENST00000498707.1	-	33	5479	c.5137C>T	c.(5137-5139)Cac>Tac	p.H1713Y	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.H1685Y	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1713	TSP type-1 15.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCATAAGTGGCTGGGTTGG	0.443000													50	68					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43896045	43896045	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr21:43896045C>A	ENST00000291536.3	-	8	1007	c.840G>T	c.(838-840)gaG>gaT	p.E280D	RSPH1_ENST00000398352.3_Missense_Mutation_p.E242D	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	280					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CCTGGTCATACTCCCGGCTCT	0.637000													19	21					1.33834e-09	1.3941e-09	1	1	0
CHERP	10523	broad.mit.edu	37	19	16640580	16640580	+	Silent	SNP	T	T	C			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr19:16640580T>C	ENST00000546361.2	-	8	1159	c.1008A>G	c.(1006-1008)caA>caG	p.Q336Q	CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	336	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgctgttgctgctgct	0.667000													4	35					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27097676	27097676	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:27097676G>A	ENST00000324856.7	+	12	3636	c.3265G>A	c.(3265-3267)Gcc>Acc	p.A1089T	ARID1A_ENST00000374152.2_Missense_Mutation_p.A706T|ARID1A_ENST00000457599.2_Missense_Mutation_p.A1089T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1089	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGCAGTGCTGCCAGCTCCTT	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								12	6					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175106074	175106074	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:175106074C>T	ENST00000239462.4	+	17	3658	c.3545C>T	c.(3544-3546)tCc>tTc	p.S1182F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1182	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAAGTGGCCTCCAGCAAGGAG	0.483000													5	64					0	0	1	0	0
C7orf55-LUC7L2	0	broad.mit.edu	37	7	139083362	139083362	+	Silent	SNP	A	A	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr7:139083362A>G	ENST00000354926.4	+	3	528	c.174A>G	c.(172-174)gaA>gaG	p.E58E	C7orf55-LUC7L2_ENST00000541170.3_Silent_p.E55E|C7orf55-LUC7L2_ENST00000263545.6_Silent_p.E57E|LUC7L2_ENST00000541515.3_Silent_p.E124E	NM_016019.3	NP_057103.2																					ATCTTGGAGAATGTCTGAAAG	0.313000													20	66					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78432598	78432598	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:78432598C>A	ENST00000370767.1	-	6	472	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E129*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E150*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	129	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATCCAGATTCCTGTTGTATG	0.318000			"""F, N"""		oligodendroglioma								15	3					6.94344e-10	7.38664e-10	1	1	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			17	35					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	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								42	42					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366488	10366488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:10366488G>A	ENST00000255381.2	-	10	933	c.823C>T	c.(823-825)Cga>Tga	p.R275*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	275	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAAGTAACTCGGGACTTCTCT	0.353000													5	52					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66873682	66873682	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:66873682C>T	ENST00000269080.2	-	31	4194	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	ABCA8_ENST00000430352.2_Missense_Mutation_p.D1393N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1393N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1353	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCTCAGCATCCCCTTTCCTC	0.587000													60	148					0	0	1	0	0
AMZ2P1	0	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													8	152					0	0	1	0	0
REM2	161253	broad.mit.edu	37	14	23354539	23354539	+	Silent	SNP	C	C	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr14:23354539C>A	ENST00000267396.4	+	3	633	c.510C>A	c.(508-510)atC>atA	p.I170I	REM2_ENST00000536884.1_Intron	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	170					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TTTATGACATCTGGGAACAGG	0.507000													32	36					8.53417e-09	8.70834e-09	1	1	0
KIF19	124602	broad.mit.edu	37	17	72341014	72341014	+	Missense_Mutation	SNP	C	C	T	rs145463528	by1000genomes	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:72341014C>T	ENST00000389916.4	+	7	835	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	233	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGCGCAGCCGGGTCAAGAA	0.687000													12	48					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65439637	65439637	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr7:65439637G>A	ENST00000304895.4	-	7	1250	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	GUSB_ENST00000421103.1_Missense_Mutation_p.R228C|GUSB_ENST00000345660.6_Missense_Mutation_p.R323C	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	374			R -> C (in MPS7).		glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCAAGCCAGCGAAGCAGGTTG	0.572000													44	46					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15885222	15885222	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr10:15885222C>T	ENST00000277632.3	-	3	444	c.224G>A	c.(223-225)cGg>cAg	p.R75Q	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	75					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGAACAATCCCGCCAAGAAGA	0.343000													38	64					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363709	42363709	+	Silent	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr15:42363709G>A	ENST00000290472.3	-	16	1708	c.1614C>T	c.(1612-1614)gcC>gcT	p.A538A		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	538	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGTCATACCAGGCATCCAGCA	0.592000													27	35					0	0	1	0	0
KLF9	687	broad.mit.edu	37	9	73027912	73027912	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr9:73027912G>A	ENST00000377126.2	-	1	1628	c.368C>T	c.(367-369)cCg>cTg	p.P123L		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	123					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						GAGGGAGAGCGGGCTGGGCGC	0.607000													45	68					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612000													9	76					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41773595	41773595	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr6:41773595A>G	ENST00000394253.3	-	3	1456	c.1127T>C	c.(1126-1128)gTg>gCg	p.V376A	USP49_ENST00000373009.3_Missense_Mutation_p.V376A|USP49_ENST00000373006.1_Missense_Mutation_p.V376A|USP49_ENST00000373010.1_Missense_Mutation_p.V376A|USP49_ENST00000297229.2_Missense_Mutation_p.V376A			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	376					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAGGGCGACACTAGGGCCCA	0.597000													29	35					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53440235	53440235	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chrX:53440235G>A	ENST00000322213.4	-	4	689	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	188					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTTTTCTTGCGATGGTAATTA	0.493000													57	4					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64530103	64530103	+	RNA	SNP	G	G	A	rs137873032	by1000genomes	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr7:64530103G>A	ENST00000426828.1	+	0	923					NR_033416.1																						TGACTGCTTGGGACATGCAGG	0.388000													4	55					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148989208	148989208	+	Silent	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr5:148989208G>A	ENST00000333677.6	+	4	571	c.408G>A	c.(406-408)cgG>cgA	p.R136R		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	136	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						ACACGTACCGGAAGGAGCCGG	0.572000													23	26					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540554	113540554	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:113540554G>A	ENST00000505019.1	-	6	769	c.644C>T	c.(643-645)tCa>tTa	p.S215L	C4orf21_ENST00000445203.2_Missense_Mutation_p.S184L|C4orf21_ENST00000309071.5_Missense_Mutation_p.S215L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	215										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTGACAGGTGAGCAAAAATA	0.388000													7	79					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr19:42791758G>A	ENST00000572681.2	+	6	3439	c.3371G>A	c.(3370-3372)cGg>cAg	p.R1124Q	CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612000			"""Mis, F, S"""		oligodendroglioma								5	22					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21205843	21205843	+	Silent	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:21205843G>A	ENST00000602326.1	-	18	3028	c.2445C>T	c.(2443-2445)taC>taT	p.Y815Y	EIF4G3_ENST00000536266.1_Silent_p.Y413Y|EIF4G3_ENST00000400422.1_Silent_p.Y809Y|EIF4G3_ENST00000374935.3_Silent_p.Y529Y|EIF4G3_ENST00000374937.3_Silent_p.Y815Y|EIF4G3_ENST00000264211.8_Silent_p.Y809Y|EIF4G3_ENST00000537738.1_Silent_p.Y299Y	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	809	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACATGTTTGCGTAAGCCACAG	0.443000													4	80					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78943012	78943012	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr9:78943012G>A	ENST00000545128.1	+	32	4884	c.4346G>A	c.(4345-4347)tGc>tAc	p.C1449Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGTGGGAGCTGCATGGCCAAC	0.597000													4	237					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109584	145109584	+	RNA	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:145109584G>A	ENST00000453618.1	+	0	573							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TCCCTAAGACGTTGGCTTTTG	0.428000													52	352					0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109724566	109724566	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr12:109724566G>A	ENST00000355216.1	-	3	291	c.40C>T	c.(40-42)Cca>Tca	p.P14S	FOXN4_ENST00000299162.5_Intron			Q96NZ1	FOXN4_HUMAN	forkhead box N4	194					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						GCAGGAGGTGgggcagggcag	0.632000													6	5					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049228	9049228	+	Silent	SNP	C	C	T			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr19:9049228C>T	ENST00000397910.4	-	5	32606	c.32403G>A	c.(32401-32403)gcG>gcA	p.A10801A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10803	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A10801A(1)|p.A6434A(1)		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						TTGTCTTTGCCGCCAAACTGG	0.507000													92	99					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583167	88583167	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:88583167T>A	ENST00000339673.6	+	6	336	c.237T>A	c.(235-237)gaT>gaA	p.D79E	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D63E	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	79					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGGGCTCTGATGATCATCAAT	0.468000													31	30					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230898421	230898421	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:230898421delT	ENST00000354537.1	+	4	507	c.425delT	c.(424-426)cgfs	p.L142fs	CAPN9_ENST00000271971.2_Frame_Shift_Del_p.L142fs|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Frame_Shift_Del_p.L79fs	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	142	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AGTGAGTGGCTGGACGTGGTG	0.547													39	43	---	---	---	---					
TAPT1-AS1	0	broad.mit.edu	37	4	16257860	16257860	+	RNA	DEL	T	T	-	rs146274448		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:16257860delT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1																						AGGGTTTGTCTTTTTTTTTTT	0.383													4	1	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32521769	32521771	+	RNA	DEL	ATT	ATT	-	rs77824792	by1000genomes	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr6:32521769_32521771delATT	ENST00000411500.1	-	0	740					NR_001298.1																						AGGTTTAGTGATTTTTATTCCAA	0.429													4	8	---	---	---	---					
RP1	6101	broad.mit.edu	37	8	55541377	55541377	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr8:55541377delT	ENST00000220676.1	+	4	5083	c.4935delT	c.(4933-4935)tcfs	p.S1645fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1645					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.P1648fs*62(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAAACCATCTTTTTTTCCTG	0.378													8	134	---	---	---	---