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-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	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													3	90					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802545	137802545	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr5:137802545G>T	ENST00000239938.4	+	2	679	c.407G>T	c.(406-408)cGc>cTc	p.R136L		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	136					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TATACTGGCCGCTTTTCCCTG	0.587000													7	113					0.000157383	0.000167376	1	1	0
TSC1	7248	broad.mit.edu	37	9	135772832	135772832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr9:135772832C>A	ENST00000298552.3	-	21	3012	c.2791G>T	c.(2791-2793)Gag>Tag	p.E931*	TSC1_ENST00000440111.2_Nonsense_Mutation_p.E931*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.E880*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	931					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TTGACATCCTCTAGATATTTC	0.418000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				77	5					8.00303e-49	9.08819e-49	1	1	0
CHD4	1108	broad.mit.edu	37	12	6682432	6682432	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr12:6682432A>C	ENST00000309577.6	-	37	5612	c.5449T>G	c.(5449-5451)Tta>Gta	p.L1817V	CHD4_ENST00000357008.2_Missense_Mutation_p.L1789V|CHD4_ENST00000544040.1_Missense_Mutation_p.L1782V|CHD4_ENST00000544484.1_Missense_Mutation_p.L1814V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1789	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCTTGTTCTAAGAGCTGGACA	0.507000													15	20					0	0	1	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21011606	21011606	+	Silent	SNP	A	A	G			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr9:21011606A>G	ENST00000495827.2	-	5	517	c.472T>C	c.(472-474)Ttg>Ctg	p.L158L	PTPLAD2_ENST00000513293.2_Silent_p.L158L	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2						fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		AGAACACACAAAGGATAAATT	0.358000													20	1541					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48134127	48134127	+	Silent	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr12:48134127G>A	ENST00000405493.2	-	22	2366	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L	RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000171000.4_Silent_p.L719L|RAPGEF3_ENST00000389212.3_Silent_p.L761L|RAPGEF3_ENST00000449771.2_Silent_p.L761L|RAPGEF3_ENST00000549151.1_Silent_p.L719L	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	719					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCGAGTTGCTGAGGCCAAACA	0.607000													31	34					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													3	4					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34640668	34640668	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr15:34640668T>G	ENST00000537011.1	+	3	981	c.599T>G	c.(598-600)aTt>aGt	p.I200S	NUTM1_ENST00000438749.3_Missense_Mutation_p.I190S|NUTM1_ENST00000333756.4_Missense_Mutation_p.I172S	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		CTGGTCCCCATTGTGCCCCTG	0.602000													10	48					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14752323	14752323	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr19:14752323T>G	ENST00000253673.5	-	10	1256	c.1156A>C	c.(1156-1158)Aac>Cac	p.N386H	EMR3_ENST00000443157.2_Missense_Mutation_p.N260H|EMR3_ENST00000344373.4_Missense_Mutation_p.N334H|EMR3_ENST00000599900.1_Missense_Mutation_p.N171H	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	386					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GTGCTGGTGTTCCGGATGGCT	0.592000													14	24					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55929397	55929397	+	Silent	SNP	T	T	C			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr6:55929397T>C	ENST00000244728.5	-	24	2548	c.2151A>G	c.(2149-2151)agA>agG	p.R717R	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Silent_p.R714R|COL21A1_ENST00000370808.2_Silent_p.R117R|COL21A1_ENST00000535941.1_Silent_p.R717R	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	717	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAATTCCCTGTCTTCCATTTT	0.328000													7	8					0	0	1	0	0
ALG8	79053	broad.mit.edu	37	11	77817889	77817889	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr11:77817889T>A	ENST00000376156.3	-	10	1145	c.1142A>T	c.(1141-1143)cAt>cTt	p.H381L	ALG8_ENST00000532552.2_5'UTR|ALG8_ENST00000299626.5_Missense_Mutation_p.H381L	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	381					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GGCTTTTTCATGAACATGCCA	0.418000													46	53					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													8	141					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68942838	68942838	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr8:68942838A>T	ENST00000288368.4	+	6	927	c.650A>T	c.(649-651)cAg>cTg	p.Q217L	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	217					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCCAAGAGACAGATGGAGAAG	0.458000													33	43					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272149	65272149	+	RNA	SNP	A	A	G			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr11:65272149A>G	ENST00000534336.1	+	0	6917					NR_002819.2																						AAAATCAGTGACAAGAAACAT	0.373000													16	25					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7811340	7811340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr1:7811340C>T	ENST00000303635.7	+	20	4978	c.4771C>T	c.(4771-4773)Cag>Tag	p.Q1591*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.Q1577*|CAMTA1_ENST00000476864.1_Nonsense_Mutation_p.Q155*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1591	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AAAAAAATTCCAGCAGAGCCG	0.463000			T	WWTR1	epitheliod hemangioendothelioma								147	149					0	0	1	0	0
PRDX2	7001	broad.mit.edu	37	19	12911823	12911823	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr19:12911823A>C	ENST00000301522.2	-	3	292	c.164T>G	c.(163-165)aTc>aGc	p.I55S	PRDX2_ENST00000435703.1_Missense_Mutation_p.I55S|PRDX2_ENST00000334482.5_Missense_Mutation_p.I55S|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	55	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAACGCGATGATCTCGGTGGG	0.577000													15	19					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848763	54848763	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr19:54848763C>A	ENST00000291759.4	-	5	916	c.860G>T	c.(859-861)cGc>cTc	p.R287L		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	287	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCCGTAGGAGCGGCTCACAGG	0.682000													18	18					6.94344e-10	7.6264e-10	1	1	0
DSC3	1825	broad.mit.edu	37	18	28611032	28611032	+	Silent	SNP	C	C	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr18:28611032C>T	ENST00000434452.1	-	3	415	c.261G>A	c.(259-261)ctG>ctA	p.L87L	DSC3_ENST00000360428.4_Silent_p.L87L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	87					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCTTATCAGACAGCGCAACAG	0.438000													22	29					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237881783	237881783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr1:237881783C>T	ENST00000366574.2	+	73	10833	c.10516C>T	c.(10516-10518)Cga>Tga	p.R3506*	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R3490*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.R3504*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3506					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R3504*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGATGAAGTACGAGATATAAT	0.333000													12	29					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806092	1806092	+	Missense_Mutation	SNP	A	A	T	rs121913484		TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr4:1806092A>T	ENST00000340107.4	+	9	1373	c.1117A>T	c.(1117-1119)Agt>Tgt	p.S373C	FGFR3_ENST00000260795.2_Missense_Mutation_p.S371C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S371C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S371C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	371			Y -> C (in KERSEB and TD1).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.S371C(55)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CGAGGCGGGCAGTGTGTATGC	0.682000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				155	8					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136964097	136964097	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr5:136964097C>T	ENST00000508657.1	-	13	2098	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	KLHL3_ENST00000541417.1_Silent_p.T191T|KLHL3_ENST00000506491.1_Missense_Mutation_p.A412T|KLHL3_ENST00000309755.4_Missense_Mutation_p.A494T|KLHL3_ENST00000506873.1_5'UTR	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	494						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CCACCTGTGGCGTACAGCTGT	0.547000													51	61					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200017524	200017524	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr1:200017524T>A	ENST00000367362.3	+	5	934	c.688T>A	c.(688-690)Ttg>Atg	p.L230M	NR5A2_ENST00000544748.1_Missense_Mutation_p.L158M|NR5A2_ENST00000236914.3_Missense_Mutation_p.L184M	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	230					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCATGCTGCCTTGCCTCCTAC	0.512000													60	75					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111035	55111035	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr11:55111035G>A	ENST00000314721.2	+	1	409	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GCCTATGATCGCTATGTGGCT	0.468000													73	87					0	0	1	0	0
CUEDC2	79004	broad.mit.edu	37	10	104184490	104184490	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr10:104184490G>A	ENST00000369937.4	-	3	279	c.134C>T	c.(133-135)tCg>tTg	p.S45L		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	45						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGATGGGCCCGAGGGGCCCAG	0.587000													21	31					0	0	1	0	0
COMMD1	150684	broad.mit.edu	37	2	62227971	62227971	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr2:62227971C>T	ENST00000311832.5	+	2	348	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	COMMD1_ENST00000538736.1_Missense_Mutation_p.R106C|COMMD1_ENST00000472729.1_3'UTR	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	106					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GACAAAAATCCGTGAGAGCCT	0.507000													35	40					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950622	38950622	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr5:38950622G>A	ENST00000357387.3	-	31	3358	c.3328C>T	c.(3328-3330)Cgt>Tgt	p.R1110C	RICTOR_ENST00000296782.5_Missense_Mutation_p.R1110C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1110					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTGCTACTACGATGTTTTTTG	0.368000													67	77					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	48					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54359890	54359890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chrX:54359890C>A	ENST00000354646.2	-	2	655	c.217G>T	c.(217-219)Gaa>Taa	p.E73*	WNK3_ENST00000375169.3_Nonsense_Mutation_p.E73*|WNK3_ENST00000375159.2_Nonsense_Mutation_p.E73*	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	73					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGGGATGATTCGGCAACTTTG	0.393000													4	84					0.00909568	0.00952204	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527000			T	MLL	ALL								17	1528					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72973867	72973867	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr8:72973867G>A	ENST00000262209.4	-	7	1144	c.937C>T	c.(937-939)Ctt>Ttt	p.L313F		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	313						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGCCTGTGAAGCATGGTCTCA	0.418000													40	47					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414298	20414298	+	Silent	SNP	A	A	G	rs143254940	byFrequency	TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr9:20414298A>G	ENST00000380338.4	-	5	832	c.546T>C	c.(544-546)agT>agC	p.S182S	MLLT3_ENST00000429426.2_Silent_p.S179S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	182	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.522000			T	MLL	ALL								13	2026					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9757192	9757192	+	Silent	SNP	A	A	G			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr3:9757192A>G	ENST00000383832.3	+	13	994	c.804A>G	c.(802-804)aaA>aaG	p.K268K	CPNE9_ENST00000383831.3_Silent_p.K268K	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	268	Poly-Lys.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGAAGAAGAAATATGTCAACT	0.507000													30	24					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	906572	906572	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr4:906572G>C	ENST00000314167.4	-	3	328	c.218C>G	c.(217-219)tCc>tGc	p.S73C	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	73	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTCTTCATTGGATAATAGCCT	0.463000													4	132					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187208945	187208945	+	Missense_Mutation	SNP	G	G	A	rs151121343		TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr4:187208945G>A	ENST00000264692.4	+	14	1861	c.1528G>A	c.(1528-1530)Ggc>Agc	p.G510S	F11_ENST00000403665.2_Missense_Mutation_p.G562S|F11-AS1_ENST00000505103.1_RNA			P03951	FA11_HUMAN	coagulation factor XI	562	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GATCTGTGCCGGCTACAGGGA	0.433000													3	70					0	0	1	0	0
MBNL2	10150	broad.mit.edu	37	13	97999160	97999160	+	Missense_Mutation	SNP	G	G	A	rs149200518		TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr13:97999160G>A	ENST00000345429.6	+	5	1424	c.643G>A	c.(643-645)Gta>Ata	p.V215I	MBNL2_ENST00000397601.1_Missense_Mutation_p.V215I|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000343600.4_Missense_Mutation_p.V215I|MBNL2_ENST00000376673.3_Missense_Mutation_p.V215I	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	215					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TGACAACACCGTAACCGTTTG	0.527000													4	64					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								34	1520					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209150576	209150576	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr2:209150576A>C	ENST00000264380.4	+	6	898	c.740A>C	c.(739-741)gAt>gCt	p.D247A	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.D161A|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.D247A|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.D150A	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	247					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCTGTGCTTGATCCAAGTGAA	0.418000													53	66					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758432	111758432	+	Silent	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr12:111758432G>A	ENST00000261726.6	+	17	2773	c.2619G>A	c.(2617-2619)ccG>ccA	p.P873P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	873						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTACGTGCCGCGCACCCTGA	0.716000													7	7					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50450301	50450301	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr7:50450301G>A	ENST00000331340.3	+	5	640	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	IKZF1_ENST00000438033.1_Missense_Mutation_p.R75Q|IKZF1_ENST00000440768.2_Missense_Mutation_p.R162Q|IKZF1_ENST00000343574.5_Missense_Mutation_p.R75Q|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.R162Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.R162Q|IKZF1_ENST00000357364.4_Missense_Mutation_p.R162Q	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	162	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).	Required for both pericentromeric heterochromatin localization and complete DNA binding (By similarity).			cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AACCTGCTCCGGCACATCAAG	0.617000			"""D,T"""	BCL6	"""ALL, DLBCL"""								13	14					0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75941472	75941472	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr15:75941472A>G	ENST00000308527.5	+	1	1226	c.29A>G	c.(28-30)gAc>gGc	p.D10G		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	10	SH3.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GCCCTCTATGACTTTCACAGT	0.567000													42	106					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925784	27925784	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr6:27925784G>A	ENST00000244623.1	+	1	766	c.766G>A	c.(766-768)Gtc>Atc	p.V256I		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAGTACAGCCGTCTCTGTGTA	0.468000													4	172					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76454652	76454652	+	Silent	SNP	C	C	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr17:76454652C>T	ENST00000389840.5	-	62	10054	c.9930G>A	c.(9928-9930)gcG>gcA	p.A3310A	DNAH17_ENST00000585328.1_Silent_p.A3319A|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATACCTGTTCGCCAGTAAGA	0.557000													115	59					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627328	37627328	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr17:37627328A>G	ENST00000447079.4	+	2	1276	c.1243A>G	c.(1243-1245)Atg>Gtg	p.M415V	CDK12_ENST00000430627.2_Missense_Mutation_p.M415V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	415					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGCAGCAAAGATGGATGGAAA	0.453000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			40	94					0	0	1	0	0
PINK1	65018	broad.mit.edu	37	1	20966426	20966426	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr1:20966426G>T	ENST00000321556.4	+	3	811	c.717G>T	c.(715-717)caG>caT	p.Q239H	PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	239	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAATGAGCCAGGAGCTGGTCC	0.572000											OREG0013195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					0.014758	0.0149816	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	59					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134045	91134045	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chrX:91134045G>T	ENST00000373094.1	+	2	3651	c.2806G>T	c.(2806-2808)Gcc>Tcc	p.A936S	PCDH11X_ENST00000406881.1_Missense_Mutation_p.A936S|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A936S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A936S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A936S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A936S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A936S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A936S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A936S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	936					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCCTGATTTGGCCCGACACTA	0.478000													97	11					1.53058e-52	1.76808e-52	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414398	20414398	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr9:20414398C>G	ENST00000380338.4	-	5	732	c.446G>C	c.(445-447)aGc>aCc	p.S149T	MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	149	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		gctgctgctgctgGTATGAAT	0.493000			T	MLL	ALL								11	1548					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42854600	42854600	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr17:42854600G>A	ENST00000200557.6	+	21	1917	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	ADAM11_ENST00000535346.1_Missense_Mutation_p.R383H	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	583	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCTGTGGGCGCAAGGGATCT	0.622000													24	39					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599473	29599473	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr13:29599473G>A	ENST00000431530.3	+	1	726	c.668G>A	c.(667-669)gGg>gAg	p.G223E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	213						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTGGGGGTGGGGAGGGGCCA	0.607000													17	24					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50214098	50214098	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr19:50214098A>G	ENST00000392518.4	+	16	2222	c.1850A>G	c.(1849-1851)gAg>gGg	p.E617G	CPT1C_ENST00000598293.1_Missense_Mutation_p.E617G|CPT1C_ENST00000354199.5_Missense_Mutation_p.E617G|CPT1C_ENST00000405931.2_Missense_Mutation_p.E606G|CPT1C_ENST00000323446.5_Missense_Mutation_p.E617G	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	617					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGGGCCATGGAGGACAAAGAG	0.552000													3	47					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141499493	141499493	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr3:141499493C>T	ENST00000264952.2	+	2	1027	c.890C>T	c.(889-891)tCg>tTg	p.S297L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	297	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ATCTTTTACTCGGCCCAGATA	0.562000													4	63					0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61147763	61147763	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr2:61147763G>C	ENST00000295025.8	+	10	1393	c.1073G>C	c.(1072-1074)aGa>aCa	p.R358T	REL_ENST00000394479.3_Missense_Mutation_p.R326T	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GGAGAAGGAAGATACTTCAAA	0.308000			A		Hodgkin Lymphoma								41	41					0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39626091	39626091	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr22:39626091C>T	ENST00000331163.6	-	5	1386	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	PDGFB_ENST00000381551.4_Missense_Mutation_p.R185Q	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	200					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	p.R200Q(2)|p.R185Q(1)	COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GTGGTTACCTCGCTGCTCCTG	0.652000			T	COL1A1	DFSP								16	47					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233339	84233339	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr6:84233339C>T	ENST00000536636.1	+	3	524	c.179C>T	c.(178-180)aCa>aTa	p.T60I	PRSS35_ENST00000369700.3_Missense_Mutation_p.T60I	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	60					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATGGTAAATACAGTGTGTGGC	0.468000													51	55					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								40	1574					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359804	77359804	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr16:77359804C>T	ENST00000282849.5	-	13	2409	c.1991G>A	c.(1990-1992)cGt>cAt	p.R664H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	664	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAACCATCCACGGAAAGGTTT	0.388000													26	49					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816775	6816775	+	Silent	SNP	G	G	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr11:6816775G>T	ENST00000332601.3	-	1	353	c.165C>A	c.(163-165)acC>acA	p.T55T		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTTTGTGGAGGGTAGAATGGT	0.443000													38	5					2.51541e-25	2.80887e-25	1	1	0
ECE2	9718	broad.mit.edu	37	3	184001624	184001624	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr3:184001624G>T	ENST00000402825.3	+	8	1222	c.1222G>T	c.(1222-1224)Ggg>Tgg	p.G408W	ECE2_ENST00000357474.5_Missense_Mutation_p.G336W|ECE2_ENST00000359140.4_Missense_Mutation_p.G261W|ECE2_ENST00000404464.3_Missense_Mutation_p.G290W|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	408	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGCTGGGTGGGCGGCCCAC	0.622000													3	31					1	1	1	1	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859131	149859132	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr1:149859131_149859132insAA	ENST00000331128.3	-	1	334_335	c.335_336insTT	c.(334-336)atcfs	p.I112fs		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	112					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACAGCCTGGATATTGGGCAA	0.520													43	55	---	---	---	---					
LOC654342	654342	broad.mit.edu	37	2	91843055	91843056	+	RNA	INS	-	-	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr2:91843055_91843056insA	ENST00000609777.1	-	0	199																											GTCACAAGGGCAGACCCCTGGA	0.569													2	4	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64532708	64532709	+	RNA	INS	-	-	A			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr7:64532708_64532709insA	ENST00000426828.1	+	0	1228					NR_033416.1																						AAATGGGGACCAAAAAAAAAAA	0.351													2	4	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48866910	48866910	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr8:48866910delT	ENST00000314191.2	-	5	552	c.496delA	c.(496-498)atafs	p.I166fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.I166fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	166					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTATCTGGTATTTTTTTTTTC	0.264								Non-homologous end-joining					4	7	---	---	---	---					
SPTAN1	6709	broad.mit.edu	37	9	131339534	131339535	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr9:131339534_131339535insG	ENST00000372739.3	+	7	1022_1023	c.912_913insG	c.(913-915)gctfs	p.A305fs	SPTAN1_ENST00000358161.5_Frame_Shift_Ins_p.A305fs|SPTAN1_ENST00000372731.4_Frame_Shift_Ins_p.A305fs	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	305					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGAGAGATCTTGCTGCTCTAGA	0.465													72	11	---	---	---	---					
HNRNPUL2	221092	broad.mit.edu	37	11	62494375	62494377	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr11:62494375_62494377delTCC	ENST00000301785.5	-	1	444_446	c.252_254delGGA	c.(250-255)gaggac>gac	p.E84del	HNRNPUL2-BSCL2_ENST00000403734.2_In_Frame_Del_p.E84del	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	84	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CGcctcctcgtcctcctcctcct	0.778													2	4	---	---	---	---					
CTD-2184D3.5	0	broad.mit.edu	37	15	52388055	52388056	+	RNA	DEL	AG	AG	-	rs58524153		TCGA-CF-A9FH-01A-11D-A38G-08	TCGA-CF-A9FH-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d574a818-f7e8-4f9a-8712-4a99bd8ecd2a	7b22d74c-315c-4fa4-a95e-ebb7e46f6998	g.chr15:52388055_52388056delAG	ENST00000558607.1	-	0	54																											aacattaaacagagttaccatg	0.332													5	6	---	---	---	---