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
APOA1	335	broad.mit.edu	37	11	116707812	116707812	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:116707812C>T	ENST00000236850.4	-	3	470	c.105G>A	c.(103-105)gtG>gtA	p.V35V	APOA1_ENST00000375329.2_Intron|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000359492.2_Silent_p.V35V|APOA1_ENST00000375320.1_Silent_p.V35V|APOA1_ENST00000375323.1_Silent_p.V35V	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	35					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCAGGTCCTTCACTCGATCCC	0.587000													11	78					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122845721	122845721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:122845721G>A	ENST00000358808.2	-	5	944	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	CLIP1_ENST00000540338.1_Nonsense_Mutation_p.Q264*|CLIP1_ENST00000545889.1_5'UTR|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.Q264*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.Q264*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.Q264*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	264	CAP-Gly 2.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGTTGACACTGAAAATACCTT	0.403000													5	21					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60650687	60650687	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:60650687G>C	ENST00000582809.1	+	13	1336	c.633G>C	c.(631-633)caG>caC	p.Q211H	TLK2_ENST00000326270.9_Missense_Mutation_p.Q360H|TLK2_ENST00000343388.7_Missense_Mutation_p.Q328H|TLK2_ENST00000542523.1_Missense_Mutation_p.Q328H|TLK2_ENST00000346027.5_Missense_Mutation_p.Q360H			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	360					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CCAATGAGCAGAAACAGCGGA	0.468000													8	21					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86297203	86297203	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:86297203C>T	ENST00000263857.6	-	13	2182	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E602K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	602					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CGGCCCAGCTCACTCTGGGGG	0.577000													4	27					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114290002	114290002	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr9:114290002G>C	ENST00000309235.5	+	2	485	c.327G>C	c.(325-327)agG>agC	p.R109S	ZNF483_ENST00000358151.4_Missense_Mutation_p.R109S|ZNF483_ENST00000355824.3_Missense_Mutation_p.R109S|ZNF483_ENST00000374374.3_Missense_Mutation_p.R109S	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	109	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GGGAGATCAGGATTTGGGTAA	0.433000													49	58					0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	613319	613319	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr19:613319C>T	ENST00000251287.2	+	6	1709	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	552					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCCAACTTCGTCACGGCCA	0.612000													3	16					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151474906	151474906	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:151474906G>A	ENST00000356517.3	+	5	839	c.730G>A	c.(730-732)Gat>Aat	p.D244N	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	244						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTTGACCAGGGATGTAGCCAT	0.413000													27	115					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15821032	15821032	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr10:15821032C>G	ENST00000378036.1	-	6	1588	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Missense_Mutation_p.E433Q			Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	433					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CAGAGTAACTCAATGTATGGC	0.398000													6	33					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	14665596	14665596	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr20:14665596C>T	ENST00000217246.4	+	5	804	c.409C>T	c.(409-411)Cct>Tct	p.P137S	MACROD2_ENST00000310348.4_Missense_Mutation_p.P137S|MACROD2_ENST00000464883.1_3'UTR	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	137	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTATGACCTTCCTGCAAAATG	0.423000													49	60					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164741437	164741437	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:164741437C>G	ENST00000264382.3	-	26	3082	c.3020G>C	c.(3019-3021)aGa>aCa	p.R1007T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1007	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAACTTTATTCTGGCATTTGC	0.388000										HNSCC(35;0.089)			10	64					0	0	1	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122893236	122893236	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr5:122893236C>G	ENST00000395412.1	+	4	986	c.267C>G	c.(265-267)ttC>ttG	p.F89L	CSNK1G3_ENST00000521364.1_Missense_Mutation_p.F89L|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.F89L|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.F14L|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.F89L|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.F89L|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.F89L|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.F89L			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	89	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AATACAGATTCTATAAGCAGT	0.299000													22	29					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102676711	102676711	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr10:102676711G>A	ENST00000238961.4	+	3	1111	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	FAM178A_ENST00000370269.3_Missense_Mutation_p.R190Q|FAM178A_ENST00000370271.3_Missense_Mutation_p.R190Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		GATAGAGATCGAGGCAAAACC	0.438000													18	30					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10532938	10532938	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:10532938C>A	ENST00000583535.1	-	40	5859	c.5772G>T	c.(5770-5772)aaG>aaT	p.K1924N	MYH3_ENST00000226209.7_Missense_Mutation_p.K1924N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1924					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGTCTCGAGTCTTAGCGCGGA	0.562000													16	23					1.99824e-07	2.07336e-07	1	1	0
TAX1BP1	8887	broad.mit.edu	37	7	27797661	27797661	+	Silent	SNP	T	T	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr7:27797661T>C	ENST00000396319.2	+	3	262	c.174T>C	c.(172-174)agT>agC	p.S58S	TAX1BP1_ENST00000409980.1_Silent_p.S58S|TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000265393.6_Silent_p.S58S|TAX1BP1_ENST00000543117.1_Silent_p.S58S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	58			S -> N (in dbSNP:rs7809260).		anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TTGGATGGAGTACTGCTCGTG	0.353000													24	78					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156941516	156941516	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:156941516C>G	ENST00000368194.3	-	8	1714	c.675G>C	c.(673-675)aaG>aaC	p.K225N	ARHGEF11_ENST00000361409.2_Intron	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	194					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCTGGATCTTCAGCTGTA	0.557000													26	71					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	68					0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6380608	6380608	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr19:6380608G>A	ENST00000394456.5	-	12	1789	c.1325C>T	c.(1324-1326)tCa>tTa	p.S442L	GTF2F1_ENST00000429701.2_Missense_Mutation_p.S357L	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	442					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TGTCTTGCCTGATGGTGGCTG	0.637000													10	44					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181759595	181759595	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:181759595G>A	ENST00000526775.1	+	43	5909	c.5744G>A	c.(5743-5745)gGa>gAa	p.G1915E	CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1934E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1934E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1885E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1866E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1541E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1915E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1934					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCCGGAGTGGATACCCTTCG	0.542000													4	35					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119718845	119718845	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr4:119718845G>A	ENST00000379735.5	-	8	1308	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	SEC24D_ENST00000280551.6_Missense_Mutation_p.S345L|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	345					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TACCTCATTTGAAGGAATGGT	0.323000													14	39					0	0	1	0	0
CCBL2	56267	broad.mit.edu	37	1	89414909	89414909	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:89414909C>G	ENST00000260508.4	-	11	1343	c.1006G>C	c.(1006-1008)Gaa>Caa	p.E336Q	CCBL2_ENST00000370491.3_Missense_Mutation_p.E302Q|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	336					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAGTAACATTCTGGGTCATCC	0.378000													15	22					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43291259	43291259	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr5:43291259C>T	ENST00000325110.6	-	11	1743	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T	HMGCS1_ENST00000433297.2_Missense_Mutation_p.A513T	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	513					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CTAATGACAGCTGCTTCAGGT	0.483000													32	140					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27261629	27261629	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:27261629G>A	ENST00000238788.9	+	12	1415	c.1353G>A	c.(1351-1353)ctG>ctA	p.L451L	TMEM214_ENST00000404032.3_Silent_p.L406L	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	451						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						AGGAGCTGCTGAGGAAGGGTA	0.537000													8	17					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57753379	57753379	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr5:57753379G>C	ENST00000274289.3	-	6	1045	c.745C>G	c.(745-747)Cct>Gct	p.P249A	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	249	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		AGGACTTCAGGAGAGAGATAA	0.388000													16	38					0	0	1	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246705	43246705	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:43246705G>C	ENST00000307275.3	+	4	826	c.390G>C	c.(388-390)gaG>gaC	p.E130D	HEXIM2_ENST00000592695.1_Missense_Mutation_p.E130D|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E130D|RP13-890H12.2_ENST00000589796.1_RNA	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	130					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						TCCGCGAAGAGATGTTCGCCA	0.627000													5	24					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153182047	153182047	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr5:153182047G>A	ENST00000285900.5	+	15	2860	c.2517G>A	c.(2515-2517)atG>atA	p.M839I	GRIA1_ENST00000448073.4_Missense_Mutation_p.M849I|GRIA1_ENST00000518783.1_Missense_Mutation_p.M849I|GRIA1_ENST00000340592.5_Missense_Mutation_p.M839I|GRIA1_ENST00000518142.1_Missense_Mutation_p.M759I|GRIA1_ENST00000521843.2_Missense_Mutation_p.M770I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	839					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAAGCGGATGAAGGTGGCAT	0.527000													71	124					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364134	23364134	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr16:23364134C>G	ENST00000343070.2	+	3	500	c.324C>G	c.(322-324)atC>atG	p.I108M	SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568923.1_Missense_Mutation_p.I108M|SCNN1B_ENST00000307331.5_Missense_Mutation_p.I153M|SCNN1B_ENST00000568085.1_Missense_Mutation_p.I108M	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	108					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ATTCCAAAATCAAGCATTTGC	0.502000													15	53					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30842412	30842412	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:30842412C>T	ENST00000454381.3	-	12	1265	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	GADL1_ENST00000282538.5_Missense_Mutation_p.E407K			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	407					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TTAACTCTTTCTTCAAGGCCT	0.473000													12	57					0	0	1	0	0
KATNBL1	79768	broad.mit.edu	37	15	34445220	34445220	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr15:34445220T>C	ENST00000256544.3	-	4	351	c.209A>G	c.(208-210)tAt>tGt	p.Y70C		NM_024713.2	NP_078989.1			katanin p80 subunit B-like 1																		CTTTCTGCGATAGATCACTTT	0.353000													11	117					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54159251	54159251	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chrX:54159251C>G	ENST00000375180.2	-	9	1992	c.1936G>C	c.(1936-1938)Gag>Cag	p.E646Q	FAM120C_ENST00000328235.4_Missense_Mutation_p.E646Q	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	646										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGAGGCAGCTCCATGTTACAC	0.433000													7	7					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73548775	73548775	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr10:73548775G>C	ENST00000224721.6	+	44	5919	c.5914G>C	c.(5914-5916)Gag>Cag	p.E1972Q		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1967	Cadherin 19.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTACCAGGCAGAGGTGATGGA	0.577000													6	23					0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72551973	72551973	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:72551973G>A	ENST00000409314.1	-	20	2328	c.2160C>T	c.(2158-2160)ttC>ttT	p.F720F	FCHSD2_ENST00000311172.7_Silent_p.F640F|FCHSD2_ENST00000458644.2_Silent_p.F560F|FCHSD2_ENST00000409418.4_Silent_p.F696F|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409263.1_Silent_p.F57F			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	696	Poly-Pro.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			ATGCCTGTGAGAATCCTGGTG	0.433000													9	28					0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	44929520	44929520	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:44929520C>T	ENST00000371460.1	-	9	900	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	SUPT3H_ENST00000371461.2_Missense_Mutation_p.E195K|SUPT3H_ENST00000371459.1_Missense_Mutation_p.E184K|SUPT3H_ENST00000306867.5_Missense_Mutation_p.E184K	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	266					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TCACAGAATTCTGCATATTGA	0.269000													10	36					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798378	160798378	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:160798378G>A	ENST00000283243.7	-	30	4509	c.4303C>T	c.(4303-4305)Cgg>Tgg	p.R1435W	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1435					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TAAGGATTCCGAAACCCTGCA	0.398000													3	20					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													3	27					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583560	7583560	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:7583560C>G	ENST00000379802.3	+	24	6406	c.6065C>G	c.(6064-6066)tCt>tGt	p.S2022C	DSP_ENST00000418664.2_Missense_Mutation_p.S1423C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2022	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCTGGAGCATCTGCTTCTCCT	0.473000													13	46					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131370143	131370143	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr9:131370143G>A	ENST00000372739.3	+	33	4269	c.4159G>A	c.(4159-4161)Gaa>Aaa	p.E1387K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1387K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1387K	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1387					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						ACACCGGACAGAAATCGATGC	0.542000													15	48					0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33281050	33281050	+	Missense_Mutation	SNP	A	A	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:33281050A>C	ENST00000434618.2	-	3	758	c.413T>G	c.(412-414)cTc>cGc	p.L138R	TAPBP_ENST00000456592.2_Missense_Mutation_p.L138R|TAPBP_ENST00000426633.2_Missense_Mutation_p.L138R|TAPBP_ENST00000475304.1_Missense_Mutation_p.L138R|TAPBP_ENST00000489157.1_Intron	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	138					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TGGTCGCAAGAGGCTGGAGAG	0.642000													22	41					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21174067	21174067	+	Silent	SNP	G	G	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr22:21174067G>T	ENST00000255882.6	-	6	737	c.651C>A	c.(649-651)ctC>ctA	p.L217L	PI4KA_ENST00000572273.1_Silent_p.L159L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	159					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCAGGACACGGAGGGAATGAG	0.527000													33	103					1.36161e-19	1.47955e-19	1	1	0
MS4A1	931	broad.mit.edu	37	11	60230520	60230520	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:60230520C>T	ENST00000534668.1	+	3	494	c.205C>T	c.(205-207)Ctt>Ttt	p.L69F	MS4A1_ENST00000389939.2_Missense_Mutation_p.L69F|MS4A1_ENST00000532073.1_Missense_Mutation_p.L69F|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Missense_Mutation_p.L69F|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	69					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CCTGGGGGGTCTTCTGATGAT	0.522000													25	77					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20828231	20828231	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr19:20828231C>T	ENST00000291750.6	-	4	399	c.250G>A	c.(250-252)Gag>Aag	p.E84K	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000601440.1_Intron	NM_145297.3	NP_660340.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ctttggctctcactgtgaact	0.373000													11	29					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42032370	42032370	+	Silent	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr15:42032370G>C	ENST00000219905.7	+	14	4735	c.4554G>C	c.(4552-4554)ctG>ctC	p.L1518L	MGA_ENST00000570161.1_Silent_p.L1518L|MGA_ENST00000566586.1_Silent_p.L1518L|MGA_ENST00000389936.4_Silent_p.L1518L|MGA_ENST00000545763.1_Silent_p.L1518L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1518						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGAAGAATCTGAAGGCGTTTG	0.507000													13	23					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74452041	74452041	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr16:74452041G>A	ENST00000339953.5	-	3	493	c.372C>T	c.(370-372)gtC>gtT	p.V124V		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	124	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACCACAGGCTGACCACTTCAA	0.662000													11	38					0	0	1	0	0
CMTR1	23070	broad.mit.edu	37	6	37445393	37445393	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:37445393G>A	ENST00000373451.4	+	21	2295	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K		NM_015050.2	NP_055865.1			cap methyltransferase 1	711																	CAGACTGGAAGAGATGGAGAA	0.552000													28	151					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48807271	48807271	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr19:48807271G>A	ENST00000315396.7	-	7	1363	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	227										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCTTGAGCTTGAGGAAGTGGT	0.632000													18	96					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54133982	54133982	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:54133982G>A	ENST00000404125.1	-	25	2863	c.2808C>T	c.(2806-2808)atC>atT	p.I936I	PSME4_ENST00000421748.2_Silent_p.I80I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	936					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACAGTGCTCTGATATGTTGTT	0.323000													7	43					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	58					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345000	5345000	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:5345000G>A	ENST00000328813.2	-	1	582	c.528C>T	c.(526-528)ttC>ttT	p.F176F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGGAGGCAGAAAGCACGTG	0.388000													15	56					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24724456	24724456	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr14:24724456G>A	ENST00000206765.6	-	12	1772	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L	TGM1_ENST00000544573.1_Missense_Mutation_p.S108L	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	550					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTCTGCGTCTGAGCCTGGGGG	0.617000													9	50					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088025	86088025	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr14:86088025C>G	ENST00000330753.4	+	2	934	c.167C>G	c.(166-168)tCa>tGa	p.S56*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.S56*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	56	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGCTTGACCTCAGTGCCTCTT	0.522000													29	69					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	57994444	57994444	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:57994444C>T	ENST00000357272.4	+	1	318	c.153C>T	c.(151-153)atC>atT	p.I51I	FLNB_ENST00000358537.3_Silent_p.I51I|FLNB_ENST00000348383.5_Silent_p.I51I|FLNB_ENST00000295956.4_Silent_p.I51I|FLNB_ENST00000490882.1_Silent_p.I51I|FLNB_ENST00000429972.2_Silent_p.I51I			O75369	FLNB_HUMAN	filamin B, beta	51	Actin-binding.|CH 1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCGGCTCATCGCGCTGCTCG	0.617000													14	65					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53097197	53097197	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:53097197G>C	ENST00000341809.3	-	1	50	c.22C>G	c.(22-24)Cag>Gag	p.Q8E	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	8	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AACGCGGACTGAGAACTAAAT	0.537000													5	31					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14746055	14746055	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:14746055C>G	ENST00000253697.3	+	7	1542	c.1090C>G	c.(1090-1092)Caa>Gaa	p.Q364E	C3orf20_ENST00000435614.1_Missense_Mutation_p.Q242E|C3orf20_ENST00000412910.1_Missense_Mutation_p.Q242E|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	364						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCAGCATTGTCAAGAGGGGAA	0.498000													26	171					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52537586	52537586	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr15:52537586C>G	ENST00000261839.7	-	18	2304	c.2143G>C	c.(2143-2145)Gag>Cag	p.E715Q	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	715	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTGCACACCTCCTTTTTATCG	0.488000													20	118					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31246218	31246218	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:31246218G>A	ENST00000407793.2	+	12	1580	c.1329G>A	c.(1327-1329)caG>caA	p.Q443Q	DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000228264.6_Silent_p.Q417Q|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Silent_p.Q443Q|DDX11_ENST00000542838.1_Silent_p.Q443Q|DDX11_ENST00000545668.1_Silent_p.Q443Q	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	443	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACCTGAAGCAGATCCTGTATT	0.582000										Multiple Myeloma(12;0.14)			7	24					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668455	71668455	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr16:71668455C>A	ENST00000268485.3	+	3	999	c.955C>A	c.(955-957)Ccg>Acg	p.P319T	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	319	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGGGTACATCCCGGCCTTGTA	0.572000													6	35					0.00116845	0.00117697	1	1	0
NCAPH2	29781	broad.mit.edu	37	22	50956471	50956471	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr22:50956471C>T	ENST00000395701.3	+	6	584	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	NCAPH2_ENST00000395698.3_Missense_Mutation_p.P164S|NCAPH2_ENST00000299821.11_Missense_Mutation_p.P164S|NCAPH2_ENST00000420993.2_Missense_Mutation_p.P164S			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	164					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GAACAACAATCCCCTGTACAG	0.622000													9	29					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50303672	50303672	+	Silent	SNP	G	G	A	rs139916198		TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr22:50303672G>A	ENST00000330817.6	-	5	807	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CGATGATGGCGAAGGCTGACA	0.642000													7	15					0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70329170	70329170	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chrX:70329170C>T	ENST00000374202.2	-	5	756	c.665G>A	c.(664-666)cGt>cAt	p.R222H	IL2RG_ENST00000456850.2_Missense_Mutation_p.R32H	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	222	Fibronectin type-III.		R -> C (in XCID).		immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GCTCCGAACACGAAACGTGTA	0.483000									Severe Combined Immunodeficiency, X-linked				16	21					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142261518	142261518	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:142261518C>T	ENST00000350721.4	-	17	3560	c.3439G>A	c.(3439-3441)Gat>Aat	p.D1147N	ATR_ENST00000383101.3_Missense_Mutation_p.D1083N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1147					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATTTTCTTATCTTCAATGCCA	0.333000								Other conserved DNA damage response genes					4	25					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578392	7578392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:7578392C>A	ENST00000420246.2	-	5	670	c.538G>T	c.(538-540)Gag>Tag	p.E180*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E180*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E180*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E180*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E180*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.E180*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	180	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in a sporadic cancer; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; 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.E180*(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.E180K(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E180Q(1)|p.R81fs*24(1)|p.E180>DGRCPHQ(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.R174fs*3(1)|p.E180fs*6(1)|p.E171fs*61(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)		GAGCAGCGCTCATGGTGGGGG	0.637000		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)			14	37					1.3612e-06	1.40709e-06	1	1	0
SCNN1B	6338	broad.mit.edu	37	16	23364263	23364263	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr16:23364263C>T	ENST00000343070.2	+	3	629	c.453C>T	c.(451-453)gtC>gtT	p.V151V	SCNN1B_ENST00000568923.1_Silent_p.V151V|SCNN1B_ENST00000307331.5_Silent_p.V196V|SCNN1B_ENST00000568085.1_Silent_p.V151V	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	151					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CACCCCTGGTCCTTATTGATG	0.512000													16	73					0	0	1	0	0
GPR68	8111	broad.mit.edu	37	14	91701405	91701405	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr14:91701405G>C	ENST00000238699.3	-	2	284	c.20C>G	c.(19-21)tCa>tGa	p.S7*	GPR68_ENST00000531499.2_5'UTR|GPR68_ENST00000535815.1_5'UTR	NM_003485.3	NP_003476.3	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	0					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CTTTGGGCCTGAAGGGGCCAC	0.577000													13	29					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132257818	132257818	+	RNA	SNP	C	C	T	rs36063185		TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:132257818C>T	ENST00000438378.2	+	0	541					NR_026922.1																						AGAGCATTTTCGGCAGCCTAG	0.582000													3	16					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111962879	111962879	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:111962879G>A	ENST00000305815.5	-	11	1494	c.1242C>T	c.(1240-1242)gtC>gtT	p.V414V	SLC9C1_ENST00000487372.1_Silent_p.V366V	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	414					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TAAATCTATTGACAACAAGGG	0.318000													10	43					0	0	1	0	0
KCTD21	283219	broad.mit.edu	37	11	77885384	77885384	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:77885384C>A	ENST00000340067.3	-	2	495	c.217G>T	c.(217-219)Gac>Tac	p.D73Y	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	73						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TCCTGGAAGTCCTCAGGCAGG	0.602000													14	35					9.31168e-06	9.48348e-06	1	1	0
ASRGL1	80150	broad.mit.edu	37	11	62156681	62156681	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:62156681G>A	ENST00000415229.2	+	5	783	c.568G>A	c.(568-570)Gtt>Att	p.V190I	ASRGL1_ENST00000301776.5_Missense_Mutation_p.V190I|ASRGL1_ENST00000535727.1_Missense_Mutation_p.V62I	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	190					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AGGCGGTATCGTTAATAAAAT	0.537000													25	83					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62784646	62784646	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:62784646G>A	ENST00000280377.5	+	15	1905	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	USP15_ENST00000393654.3_Missense_Mutation_p.R591Q|USP15_ENST00000353364.3_Missense_Mutation_p.R587Q	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	616					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TACTTAAGCCGATATGTCAAA	0.313000													5	22					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26698278	26698278	+	Silent	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:26698278C>G	ENST00000272371.2	-	25	3201	c.3075G>C	c.(3073-3075)ctG>ctC	p.L1025L	OTOF_ENST00000403946.3_Silent_p.L1025L|OTOF_ENST00000338581.6_Silent_p.L278L|OTOF_ENST00000402415.3_Silent_p.L335L|OTOF_ENST00000339598.3_Silent_p.L278L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1025	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCGTCCCTCAGCTCATGAG	0.577000													8	44					0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6389523	6389523	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr19:6389523G>A	ENST00000394456.5	-	4	722	c.258C>T	c.(256-258)atC>atT	p.I86I	GTF2F1_ENST00000429701.2_Silent_p.I58I|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	86					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CCTTGAGGACGATGCCGTACT	0.617000													35	155					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42264837	42264837	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:42264837G>A	ENST00000327628.5	+	16	2870	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.E766K	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	824					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GGAAGTGAGAGAAAAGAACGT	0.572000													3	27					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127654688	127654688	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr5:127654688C>G	ENST00000508053.1	-	41	5451	c.4477G>C	c.(4477-4479)Gat>Cat	p.D1493H	FBN2_ENST00000262464.4_Missense_Mutation_p.D1493H			P35556	FBN2_HUMAN	fibrillin 2	1493	EGF-like 25; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAGCATTCATCAATATCTGAA	0.328000													16	59					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31418942	31418942	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr16:31418942G>T	ENST00000389202.2	+	8	860	c.811G>T	c.(811-813)Gtc>Ttc	p.V271F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	271	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATACAGTGATGTCATCCCCCA	0.542000													14	32					1.36491e-13	1.46014e-13	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131374459	131374459	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr9:131374459G>A	ENST00000372739.3	+	39	5087	c.4977G>A	c.(4975-4977)ctG>ctA	p.L1659L	SPTAN1_ENST00000372731.4_Silent_p.L1654L|SPTAN1_ENST00000358161.5_Silent_p.L1659L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1654					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						GCCAGAAACTGAAAGAAGCCA	0.522000													33	63					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160139395	160139395	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:160139395G>C	ENST00000409990.3	-	2	442	c.186C>G	c.(184-186)ttC>ttG	p.F62L	WDSUB1_ENST00000358147.4_Missense_Mutation_p.F62L|WDSUB1_ENST00000409124.1_Missense_Mutation_p.F62L|WDSUB1_ENST00000392796.3_Missense_Mutation_p.F62L|WDSUB1_ENST00000359774.4_Missense_Mutation_p.F62L	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	62						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						CTGAAGGGGAGAAACAGCAGC	0.453000													19	42					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49948155	49948155	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:49948155C>T	ENST00000257981.6	+	11	2214	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	652					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCTGCCCCGGCGGGAGCAGGT	0.637000													22	93					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352864	168352864	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:168352864G>A	ENST00000366806.2	+	30	4951	c.4809G>A	c.(4807-4809)gcG>gcA	p.A1603A	MLLT4_ENST00000400822.3_Silent_p.A1602A|MLLT4_ENST00000392112.1_Silent_p.A1586A|MLLT4_ENST00000344191.4_Silent_p.A1603A|MLLT4_ENST00000351017.4_Silent_p.A1610A|MLLT4_ENST00000447894.2_Silent_p.A1603A|MLLT4_ENST00000392108.3_Silent_p.A1603A			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1603					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AACGAAGAGCGAGGGTAAAGG	0.557000			T	MLL	AL								37	134					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103273	57103273	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr18:57103273G>C	ENST00000439986.4	-	11	1125	c.1088C>G	c.(1087-1089)tCt>tGt	p.S363C	CCBE1_ENST00000398179.2_Missense_Mutation_p.S92C	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	363					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTCTGCTGAAGAGTGAGTCCG	0.532000													45	95					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354215	45354215	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr20:45354215C>T	ENST00000359271.2	+	2	790	c.540C>T	c.(538-540)ctC>ctT	p.L180L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	180						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGCAATCCCTCAGCCTCCTCT	0.627000													25	30					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118339535	118339535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:118339535C>T	ENST00000534358.1	+	2	501	c.478C>T	c.(478-480)Cga>Tga	p.R160*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R160*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R160*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGTCAGAGTGCGAAGTCCCAC	0.403000													13	74					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50333414	50333414	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr19:50333414C>G	ENST00000312865.6	+	7	811	c.758C>G	c.(757-759)tCa>tGa	p.S253*	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	253	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCCGCACCCTCAGGTGCCACT	0.672000													9	32					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50092156	50092156	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr20:50092156G>A	ENST00000371564.3	-	4	1593	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	NFATC2_ENST00000396009.3_Silent_p.I458I|NFATC2_ENST00000609943.1_Silent_p.I438I|NFATC2_ENST00000610033.1_Silent_p.I239I|NFATC2_ENST00000609507.1_Silent_p.I239I|NFATC2_ENST00000414705.1_Silent_p.I438I	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	458	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCCCAATGAAGATCTGAAGTC	0.512000													24	36					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135888197	135888197	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:135888197C>G	ENST00000264158.8	+	13	1185	c.1142C>G	c.(1141-1143)tCa>tGa	p.S381*	RAB3GAP1_ENST00000539493.1_Nonsense_Mutation_p.S337*|RAB3GAP1_ENST00000442034.1_Nonsense_Mutation_p.S381*|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	381						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTATCAGTTTCAAATATGGTA	0.338000													17	55					0	0	1	0	0
LIPA	3988	broad.mit.edu	37	10	90983577	90983577	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr10:90983577C>G	ENST00000336233.5	-	7	1008	c.686G>C	c.(685-687)gGa>gCa	p.G229A	LIPA_ENST00000456827.1_Missense_Mutation_p.G229A|LIPA_ENST00000371837.1_Missense_Mutation_p.G173A			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	229					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		TTCTTTGTCTCCAAATAAGTC	0.433000													10	80					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31725297	31725297	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr13:31725297C>G	ENST00000320027.5	-	7	1039	c.695G>C	c.(694-696)gGa>gCa	p.G232A	HSPH1_ENST00000380406.5_Missense_Mutation_p.G191A|HSPH1_ENST00000380405.4_Missense_Mutation_p.G232A|HSPH1_ENST00000445273.2_Missense_Mutation_p.G234A|HSPH1_ENST00000429785.2_Missense_Mutation_p.G51A	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	232					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GTTTTTTCCTCCTAAGAAAGG	0.323000													10	55					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65744408	65744408	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr15:65744408C>G	ENST00000341861.5	-	18	3932	c.2352G>C	c.(2350-2352)tgG>tgC	p.W784C	DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000300141.6_Missense_Mutation_p.W768C|DPP8_ENST00000358939.4_Missense_Mutation_p.W668C|DPP8_ENST00000321118.7_Missense_Mutation_p.W735C|DPP8_ENST00000339244.5_Missense_Mutation_p.W611C|DPP8_ENST00000559233.1_Missense_Mutation_p.W784C|DPP8_ENST00000321147.6_Missense_Mutation_p.W733C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	784					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	p.W768*(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATAGAAGATCCACAGAGTGA	0.468000													11	98					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28146949	28146949	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr22:28146949G>C	ENST00000302326.4	-	2	4871	c.3917C>G	c.(3916-3918)tCt>tGt	p.S1306C	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1306							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGAGATGTCAGAATGCAGGGA	0.587000			T	ETV6	"""AML, meningioma"""								13	27					0	0	1	0	0
METTL2A	339175	broad.mit.edu	37	17	60503793	60503793	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:60503793G>C	ENST00000311506.5	+	3	372	c.336G>C	c.(334-336)ttG>ttC	p.L112F		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	112							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AAAATCATTTGAAGGACTGGT	0.393000													11	75					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58000773	58000773	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:58000773G>A	ENST00000548198.1	+	3	1631	c.127G>A	c.(127-129)Gag>Aag	p.E43K	DTX3_ENST00000337737.3_Missense_Mutation_p.E43K|DTX3_ENST00000551632.1_Missense_Mutation_p.E46K|DTX3_ENST00000548804.1_Missense_Mutation_p.E43K			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	43					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GCTTCGGGAGGAGCACCGTGT	0.602000													35	234					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36340175	36340175	+	Missense_Mutation	SNP	C	C	T	rs115308424	by1000genomes	TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr19:36340175C>T	ENST00000378910.5	-	7	802	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	NPHS1_ENST00000353632.6_Missense_Mutation_p.R268Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	268	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATTACCCCCTCGGGCCACGCA	0.662000													7	15					0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59144162	59144162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr15:59144162C>T	ENST00000559228.1	+	8	1817	c.1735C>T	c.(1735-1737)Cag>Tag	p.Q579*	FAM63B_ENST00000450403.2_Nonsense_Mutation_p.Q579*			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	579	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TACACAGGCTCAGGTAAAAAC	0.502000													7	55					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43291265	43291265	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr5:43291265C>T	ENST00000325110.6	-	11	1737	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	HMGCS1_ENST00000433297.2_Missense_Mutation_p.E511K	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	511					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ACAGCTGCTTCAGGTTCTGCT	0.478000													33	139					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204066416	204066416	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:204066416C>G	ENST00000449802.1	+	49	7635	c.7302C>G	c.(7300-7302)atC>atG	p.I2434M		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2434							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCAAAATTATCTCACACATCA	0.343000													6	53					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153691835	153691835	+	Silent	SNP	G	G	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chrX:153691835G>T	ENST00000369682.3	+	5	1594	c.1419G>T	c.(1417-1419)cgG>cgT	p.R473R		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	473	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGACCACCGGCACATCTATC	0.662000													11	16					5.16669e-11	5.46362e-11	1	1	0
ELMO1	9844	broad.mit.edu	37	7	36895167	36895167	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr7:36895167C>G	ENST00000310758.4	-	22	2820	c.2173G>C	c.(2173-2175)Gac>Cac	p.D725H	ELMO1_ENST00000442504.1_Missense_Mutation_p.D725H|ELMO1_ENST00000396045.3_Missense_Mutation_p.D245H|ELMO1_ENST00000341056.3_Missense_Mutation_p.D427H|ELMO1_ENST00000396040.2_Missense_Mutation_p.D245H|ELMO1_ENST00000448602.1_Missense_Mutation_p.D725H	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	725					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CAGTTACAGTCATAGACGAAG	0.547000													19	98					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152703	117152703	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:117152703C>T	ENST00000530849.1	+	10	974	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	RNF214_ENST00000300650.4_Missense_Mutation_p.P477S|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531287.1_Missense_Mutation_p.P322S|RNF214_ENST00000531452.1_Missense_Mutation_p.P477S			Q8ND24	RN214_HUMAN	ring finger protein 214	477							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CATGGTTATGCCCAGTGCAGA	0.577000													4	210					0	0	1	0	0
MOB1A	55233	broad.mit.edu	37	2	74399722	74399722	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:74399722C>A	ENST00000396049.4	-	2	365	c.172G>T	c.(172-174)Gct>Tct	p.A58S	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Missense_Mutation_p.A58S	NM_018221.3	NP_060691.2	Q9H8S9	MOL1B_HUMAN	MOB kinase activator 1A						hippo signaling cascade		metal ion binding|protein binding										CTGTTCACAGCAATCCATTCA	0.348000													7	75					2.0095e-06	2.06948e-06	1	1	0
TMCO3	55002	broad.mit.edu	37	13	114149903	114149903	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr13:114149903G>A	ENST00000434316.2	+	2	366	c.7G>A	c.(7-9)Gtg>Atg	p.V3M	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.V3M	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	3						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GATCATGAAGGTGTTGGGAAG	0.567000													10	33					0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41223120	41223120	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr22:41223120C>G	ENST00000216218.3	-	11	1442	c.961G>C	c.(961-963)Gag>Cag	p.E321Q		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	321	STI1.						protein binding, bridging	p.E321Q(1)		cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						GCAAGAACCTCTGGATCACTA	0.453000													13	31					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6043387	6043387	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr7:6043387G>A	ENST00000265849.7	-	4	392	c.287C>T	c.(286-288)gCc>gTc	p.A96V	PMS2_ENST00000382321.4_Missense_Mutation_p.A96V|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.A96V|PMS2_ENST00000441476.2_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	96					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGTTAGGTCGGCAAACTCTTG	0.403000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				4	60					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999130	20999130	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr16:20999130C>G	ENST00000261383.3	-	46	6766	c.6767G>C	c.(6766-6768)aGa>aCa	p.R2256T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2256	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACTGCATCTCTATAAATTGT	0.512000													4	55					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242149760	242149760	+	Silent	SNP	C	C	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:242149760C>A	ENST00000274979.8	+	14	1675	c.1572C>A	c.(1570-1572)atC>atA	p.I524I	ANO7_ENST00000402430.3_Silent_p.I523I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	524						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ACCGTGCCATCATGGCCATCG	0.677000													11	29					0.010729	0.0107681	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18039129	18039129	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:18039129C>G	ENST00000205890.5	+	13	4925	c.4587C>G	c.(4585-4587)ttC>ttG	p.F1529L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1529	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCATCACCTTCAAAGTGACCG	0.602000													4	16					0	0	1	0	0
SUPT7L	9913	broad.mit.edu	37	2	27880307	27880307	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:27880307C>T	ENST00000337768.5	-	4	1218	c.649G>A	c.(649-651)Gag>Aag	p.E217K	SUPT7L_ENST00000404798.2_Missense_Mutation_p.E82K|SUPT7L_ENST00000406540.1_Missense_Mutation_p.E215K|SUPT7L_ENST00000464789.2_Missense_Mutation_p.E215K|SUPT7L_ENST00000405491.1_Missense_Mutation_p.E215K	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	217					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					AATACCTGCTCCATCACATCA	0.517000													10	42					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125769698	125769698	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr10:125769698G>A	ENST00000346248.5	-	8	2295	c.1653C>T	c.(1651-1653)ctC>ctT	p.L551L	CHST15_ENST00000435907.1_Silent_p.L551L	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	551					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCTCATCCGCGAGGACCTGCG	0.587000													3	31					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:37868208C>A	ENST00000406381.2	+	10	1349	c.839C>A	c.(838-840)tCc>tAc	p.S280Y	ERBB2_ENST00000540042.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295Y|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310Y|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34Y|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280Y	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			78	175					2.43199e-30	2.65308e-30	1	1	0
EBF2	64641	broad.mit.edu	37	8	25745427	25745427	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr8:25745427G>A	ENST00000520164.1	-	9	1350	c.813C>T	c.(811-813)gtC>gtT	p.V271V	EBF2_ENST00000535548.1_Silent_p.V2V|EBF2_ENST00000408929.3_Silent_p.V123V	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	271	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CGATGATGATGACCATGGCTC	0.488000													13	35					0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	527786	527786	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:527786G>A	ENST00000239830.4	+	5	576	c.397G>A	c.(397-399)Gac>Aac	p.D133N	CCDC77_ENST00000422000.1_Missense_Mutation_p.D101N|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Missense_Mutation_p.D101N|CCDC77_ENST00000540180.1_Missense_Mutation_p.D101N	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	133						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CTCAGAAAATGACCGACTGAG	0.393000													19	118					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10207131	10207131	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:10207131G>A	ENST00000377157.3	+	18	2900	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	UBE4B_ENST00000253251.8_Silent_p.L729L|UBE4B_ENST00000343090.6_Silent_p.L858L	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	858					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCCGCATCCTGGACCCCGCAT	0.502000													48	113					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40070025	40070025	+	Silent	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:40070025G>C	ENST00000352035.2	-	2	232	c.102C>G	c.(100-102)gtC>gtG	p.V34V	ACLY_ENST00000353196.1_Silent_p.V34V|ACLY_ENST00000537919.1_Silent_p.V34V|ACLY_ENST00000393896.2_Silent_p.V34V|ACLY_ENST00000590151.1_Silent_p.V34V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	34					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGTCAGGAGTGACCCGAGCAT	0.587000													8	110					0	0	1	0	0
TRAV8-7	28679	broad.mit.edu	37	14	22600798	22600798	+	RNA	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr14:22600798C>T	ENST00000390456.3	+	0	143																											AGTGGAGTTCCTTCTCTCTTC	0.502000													11	31					0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25835901	25835901	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:25835901G>T	ENST00000280701.3	+	3	1395	c.1296G>T	c.(1294-1296)tgG>tgT	p.W432C	OXSM_ENST00000420173.2_Missense_Mutation_p.W349C	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	432					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGGAATGGAAAACTGAGA	0.358000													17	86					2.48551e-13	2.64865e-13	1	1	0
UGT1A1	54658	broad.mit.edu	37	2	234526713	234526713	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:234526713T>G	ENST00000373450.4	+	1	423	c.360T>G	c.(358-360)ttT>ttG	p.F120L		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTAACTTATTTTTTTCGCATT	0.368000													9	143					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47539014	47539014	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr21:47539014G>A	ENST00000300527.4	+	14	1354	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	COL6A2_ENST00000310645.5_Missense_Mutation_p.R417H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R417H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R417H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R417H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	417	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTGGGCCCCGCGGACCCAAA	0.662000													6	10					0	0	1	0	0
MGME1	92667	broad.mit.edu	37	20	17970779	17970779	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr20:17970779C>A	ENST00000377704.4	+	3	795	c.709C>A	c.(709-711)Cag>Aag	p.Q237K	MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377709.1_3'UTR|MGME1_ENST00000377710.5_3'UTR					mitochondrial genome maintenance exonuclease 1																		TGGGAACATTCAGCACCTTCT	0.393000													21	14					8.10497e-08	8.44141e-08	1	1	0
FAM96A	84191	broad.mit.edu	37	15	64385903	64385903	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr15:64385903G>A	ENST00000557835.1	-	1	91	c.65C>T	c.(64-66)tCt>tTt	p.S22F	FAM96A_ENST00000380290.3_Missense_Mutation_p.S22F|FAM96A_ENST00000300030.3_Missense_Mutation_p.S22F|FAM96A_ENST00000559950.1_Missense_Mutation_p.S22F			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	22					chromosome segregation					kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TCCCGGCTCAGAGAGGCCGGA	0.582000													5	38					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101296	27101296	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:27101296G>A	ENST00000324856.7	+	18	4949	c.4578G>A	c.(4576-4578)gtG>gtA	p.V1526V	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.V1143V|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1526					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)		ATCATGGCGTGAACCGAACAG	0.602000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								19	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179424485	179424485	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:179424485C>G	ENST00000589042.1	-	326	86598	c.86374G>C	c.(86374-86376)Gac>Cac	p.D28792H	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D19919H|TTN_ENST00000591111.1_Missense_Mutation_p.D27151H|TTN_ENST00000460472.2_Missense_Mutation_p.D19727H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D26224H|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19852H|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27151	Fibronectin type-III 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTCAGTGTCTGGCTTACTC	0.453000													13	96					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	67					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086228	56086228	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:56086228A>G	ENST00000312711.1	+	1	446	c.446A>G	c.(445-447)tAc>tGc	p.Y149C		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GCAATCCCTTACCTCTATTGC	0.428000													17	80					0	0	1	0	0
SYP	6855	broad.mit.edu	37	X	49047990	49047990	+	Silent	SNP	G	G	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chrX:49047990G>T	ENST00000263233.4	-	6	918	c.846C>A	c.(844-846)gcC>gcA	p.A282A	SYP_ENST00000479808.1_Silent_p.A282A|SYP_ENST00000538567.1_Silent_p.A164A	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	282	Repeats, Gly-rich.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				CACCGCTGCCGGCTGGTTGAC	0.677000													7	6					5.18039e-06	5.29551e-06	1	1	0
STAMBP	10617	broad.mit.edu	37	2	74077584	74077584	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:74077584G>C	ENST00000394070.2	+	7	1452	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q	STAMBP_ENST00000339566.3_Missense_Mutation_p.E317Q|STAMBP_ENST00000394073.1_Missense_Mutation_p.E317Q|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000409707.1_Missense_Mutation_p.E317Q	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	317	MPN.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	p.E317K(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						AGAGAACGAAGAAGAACTTTT	0.473000													16	63					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47615021	47615021	+	Silent	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr20:47615021G>C	ENST00000371917.4	+	25	3411	c.3411G>C	c.(3409-3411)gtG>gtC	p.V1137V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1137					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TATGGCATGTGATTGGAGATC	0.368000													34	39					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74921614	74921614	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr16:74921614C>T	ENST00000262144.6	-	23	2516	c.2386G>A	c.(2386-2388)Gac>Aac	p.D796N		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	796										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGCCCTGGGTCTGACATACTG	0.483000													3	28					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185359	127185359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chrX:127185359G>T	ENST00000371124.3	-	1	1023	c.827C>A	c.(826-828)tCa>tAa	p.S276*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	276						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GACCATTTTTGAGAGTCCTGG	0.527000													41	48					6.57855e-14	7.0649e-14	1	1	0
IQGAP2	10788	broad.mit.edu	37	5	75970356	75970356	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr5:75970356G>C	ENST00000274364.6	+	27	3646	c.3349G>C	c.(3349-3351)Gat>Cat	p.D1117H	IQGAP2_ENST00000379730.3_Missense_Mutation_p.D619H|IQGAP2_ENST00000502745.1_Missense_Mutation_p.D613H|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D613H	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1117	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGTAGCTCCAGATGGCTTTGA	0.458000													22	36					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24205302	24205302	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:24205302C>T	ENST00000378454.3	-	8	1252	c.951G>A	c.(949-951)gaG>gaA	p.E317E	DCDC2_ENST00000378450.3_Silent_p.E70E	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	317					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TTTCAGACCTCTCTGCTCCAG	0.428000													31	179					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49793532	49793532	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr19:49793532G>A	ENST00000335875.4	-	12	2300	c.2059C>T	c.(2059-2061)Ccc>Tcc	p.P687S	SLC6A16_ENST00000454748.3_3'UTR	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	687						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GGCCTGAAGGGAATCCTATGT	0.512000													16	114					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67119420	67119420	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:67119420C>G	ENST00000284425.2	-	10	1570	c.1396G>C	c.(1396-1398)Gaa>Caa	p.E466Q		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	466					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCTACTGGTTCAAAATAATCA	0.348000													6	64					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1403077	1403077	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr5:1403077G>A	ENST00000270349.9	-	13	1854	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	576	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTTGTAGGCCGCATAGATGGG	0.632000													4	47					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547282	113547282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr9:113547282G>A	ENST00000416899.2	+	10	1674	c.1548G>A	c.(1546-1548)tgG>tgA	p.W516*	MUSK_ENST00000374438.1_Intron|MUSK_ENST00000189978.5_Nonsense_Mutation_p.W524*|MUSK_ENST00000374448.4_Nonsense_Mutation_p.W524*			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	524					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAAAACAATGGAAAAATAAGA	0.348000													46	90					0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16664976	16664976	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:16664976G>C	ENST00000443444.2	+	13	3750	c.3610G>C	c.(3610-3612)Gaa>Caa	p.E1204Q	CCDC144A_ENST00000456009.1_Missense_Mutation_p.E970Q|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E1204Q|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E1204Q|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E1204Q			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1204																	GTTGATTGAAGAAAGAGCAAG	0.353000													18	73					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13699486	13699486	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr10:13699486G>A	ENST00000357447.2	-	22	2471	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	FRMD4A_ENST00000378503.1_Silent_p.L701L|FRMD4A_ENST00000358621.4_Silent_p.L686L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	701	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGTGCAGTGCGAGGCTGTGCA	0.692000													7	19					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142575686	142575686	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr7:142575686C>G	ENST00000359396.3	-	2	467	c.222G>C	c.(220-222)caG>caC	p.Q74H	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	74				Q -> H (in Ref. 1; AAG41951).	regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCTTACCTCTCTGGTGCACCT	0.527000													11	35					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47378027	47378027	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:47378027G>A	ENST00000232766.5	+	7	921	c.901G>A	c.(901-903)Gat>Aat	p.D301N	KLHL18_ENST00000455924.2_Missense_Mutation_p.D189N	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	301										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TTATGCAGGTGATTCCCTGAA	0.468000													7	23					0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25835910	25835910	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:25835910G>C	ENST00000280701.3	+	3	1404	c.1305G>C	c.(1303-1305)gaG>gaC	p.E435D	OXSM_ENST00000420173.2_Missense_Mutation_p.E352D	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	435					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGAAAACTGAGAAAAGATTTA	0.348000													20	81					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057826	27057826	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:27057826C>T	ENST00000324856.7	+	3	1905	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q129*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q512*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	512					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)		ACCACAGCTCCAGTCCTCTCA	0.627000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								81	187					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103898903	103898903	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr10:103898903C>G	ENST00000278070.2	+	5	677	c.638C>G	c.(637-639)tCt>tGt	p.S213C	PPRC1_ENST00000413464.2_Missense_Mutation_p.S213C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCCCCACCCTCTTTCTTAGAG	0.542000													14	132					0	0	1	0	0
KLHDC2	23588	broad.mit.edu	37	14	50246473	50246473	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr14:50246473G>C	ENST00000298307.5	+	8	1583	c.722G>C	c.(721-723)aGa>aCa	p.R241T	KLHDC2_ENST00000557247.1_Missense_Mutation_p.R241T|KLHDC2_ENST00000554589.1_Missense_Mutation_p.R241T	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	241						nucleus	protein binding	p.R241T(1)		endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TAGGATGCTAGAATGAATGAT	0.318000													17	32					0	0	1	0	0
FPGT	8790	broad.mit.edu	37	1	74670942	74670942	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:74670942A>G	ENST00000609362.1	+	4	1248	c.1211A>G	c.(1210-1212)cAa>cGa	p.Q404R	FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370894.5_Missense_Mutation_p.K132E|FPGT_ENST00000370898.3_Missense_Mutation_p.Q417R|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.Q150R|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGTATCATTCAAAGCATACTG	0.413000													10	53					0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43393372	43393372	+	Silent	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:43393372G>C	ENST00000426263.3	-	9	1360	c.1182C>G	c.(1180-1182)ctC>ctG	p.L394L	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	394					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCTGGCTGAAGAGTTCAGCCA	0.542000													6	17					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111694670	111694670	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:111694670C>G	ENST00000435970.1	-	15	5470	c.4654G>C	c.(4654-4656)Gaa>Caa	p.E1552Q	REV3L_ENST00000368802.3_Missense_Mutation_p.E1630Q|REV3L_ENST00000368805.1_Missense_Mutation_p.E1630Q|REV3L_ENST00000358835.3_Missense_Mutation_p.E1630Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1630					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAACAACTTTCAAAGCCTGGA	0.323000								DNA polymerases (catalytic subunits)					16	83					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731373	6731373	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr7:6731373C>T	ENST00000405858.1	-	5	1741	c.1200G>A	c.(1198-1200)caG>caA	p.Q400Q	ZNF12_ENST00000404360.1_Silent_p.Q326Q|ZNF12_ENST00000342651.5_Silent_p.Q362Q|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	400					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGTGAATTTTCTGATGGTCAT	0.468000													18	30					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907498	12907498	+	Silent	SNP	C	C	G	rs6702440		TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:12907498C>G	ENST00000317869.6	-	2	870	c.645G>C	c.(643-645)gtG>gtC	p.V215V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TAGCATTTTTCACCTCTACCT	0.448000													48	129					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121784699	121784699	+	Splice_Site	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:121784699C>T	ENST00000261819.3	-	3	518	c.397G>A	c.(397-399)Ggt>Agt	p.G133S	ANAPC5_ENST00000541887.1_Splice_Site_p.G133S|ANAPC5_ENST00000441917.2_Splice_Site_p.G34S|ANAPC5_ENST00000344395.4_Splice_Site_p.G34S	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTTTCATACCTACTACACTT	0.393000													6	37					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61761089	61761089	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr8:61761089C>T	ENST00000423902.2	+	24	5705	c.5226C>T	c.(5224-5226)gtC>gtT	p.V1742V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1742					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGCTGCGTGTCCGCATGCTGT	0.502000													3	5					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122215400	122215400	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:122215400C>T	ENST00000344337.6	-	2	189	c.13G>A	c.(13-15)Gga>Aga	p.G5R		NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	5	IBB.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTCTCTTTTCCTGGGGTGGTC	0.423000													23	104					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120638956	120638956	+	Silent	SNP	T	T	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr8:120638956T>C	ENST00000427067.2	-	3	309	c.129A>G	c.(127-129)ctA>ctG	p.L43L	ENPP2_ENST00000075322.6_Silent_p.L47L|ENPP2_ENST00000259486.6_Silent_p.L47L|ENPP2_ENST00000522826.1_Silent_p.L47L			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	47					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGGAGTCTGATAGCACTGCAA	0.522000													14	23					0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198436896	198436896	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:198436896C>T	ENST00000295049.4	-	9	1878	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CGGCACTCCTCAGGCAGGTGT	0.542000													13	76					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35435274	35435274	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr19:35435274C>G	ENST00000439785.1	+	5	1851	c.1407C>G	c.(1405-1407)caC>caG	p.H469Q	ZNF30_ENST00000303586.7_Missense_Mutation_p.H469Q|ZNF30_ENST00000426813.2_Missense_Mutation_p.H387Q|ZNF30_ENST00000601142.1_Missense_Mutation_p.H468Q|ZNF30_ENST00000601957.1_3'UTR	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TCAGAGTGCACGTACATCTCA	0.438000													6	34					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76259861	76259861	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:76259861C>T	ENST00000319942.3	+	8	869	c.798C>T	c.(796-798)ttC>ttT	p.F266F	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_Silent_p.F92F	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	266					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TGCGTAATTTCATTTTAGCAT	0.398000													34	107					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25848952	25848952	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr4:25848952G>A	ENST00000399878.3	-	2	819	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Missense_Mutation_p.R198W|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R80W	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	233						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGTTTGCCCGAAGGTTCCAA	0.433000													16	29					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77413253	77413253	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:77413253C>T	ENST00000308488.6	-	6	1323	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	RSF1_ENST00000480887.1_Missense_Mutation_p.E89K|RSF1_ENST00000360355.2_Missense_Mutation_p.E310K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	341	Glu-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ACTGGCTTCTCCATGCTACTT	0.383000													46	151					0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51915321	51915321	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr13:51915321G>C	ENST00000524365.1	+	4	719	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	SERPINE3_ENST00000400389.4_Missense_Mutation_p.E32Q|SERPINE3_ENST00000521255.1_Missense_Mutation_p.E32Q			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	32					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						GCTGAAGACTGAGTTTGCACT	0.542000													8	38					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107688500	107688500	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr7:107688500G>A	ENST00000388781.3	-	28	4262	c.4179C>T	c.(4177-4179)ctC>ctT	p.L1393L	LAMB4_ENST00000205386.4_Silent_p.L1393L|LAMB4_ENST00000388780.3_Silent_p.L1393L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1393	Domain alpha.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGCCCGTGCAGAGAGCACCGC	0.552000													17	60					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131378024	131378024	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr9:131378024C>T	ENST00000372739.3	+	41	5372	c.5262C>T	c.(5260-5262)atC>atT	p.I1754I	SPTAN1_ENST00000372731.4_Silent_p.I1749I|SPTAN1_ENST00000358161.5_Silent_p.I1754I	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1749					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						TCCAGAAGATCAAGAGCATGG	0.572000													25	30					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242644111	242644111	+	Silent	SNP	G	G	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:242644111G>T	ENST00000313552.6	+	2	107	c.81G>T	c.(79-81)ctG>ctT	p.L27L	ING5_ENST00000406941.1_Silent_p.L27L|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	27					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		ACTTCCAGCTGATGCGAGAGC	0.527000													15	62					6.31663e-08	6.60375e-08	1	1	0
RP1	6101	broad.mit.edu	37	8	55538471	55538471	+	Nonsense_Mutation	SNP	C	C	T	rs104894082		TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr8:55538471C>T	ENST00000220676.1	+	4	2177	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	677					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			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)			GAAAAAATCTCGACAGCAAGC	0.323000													16	42					0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147449	62147449	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:62147449C>T	ENST00000416284.3	-	4	1922	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Missense_Mutation_p.R113Q|FAM19A2_ENST00000550003.1_Missense_Mutation_p.R16Q	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	113						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CCATCCTTTCCGATCCGGAAG	0.413000													11	81					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	19					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70456528	70456528	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr13:70456528C>T	ENST00000377844.4	-	5	1873	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	KLHL1_ENST00000545028.1_Missense_Mutation_p.E179K	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	372					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATGGTTTCTTCATCAGGAACA	0.418000													18	59					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118250501	118250501	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chrX:118250501G>C	ENST00000402510.2	-	4	607	c.608C>G	c.(607-609)tCt>tGt	p.S203C		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	203										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTGCAGAGAAGAGATGTTAAT	0.483000													7	10					0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99971727	99971727	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr7:99971727C>G	ENST00000198536.2	+	2	337	c.125C>G	c.(124-126)tCa>tGa	p.S42*	PILRA_ENST00000453419.1_Nonsense_Mutation_p.S42*|PILRA_ENST00000394000.2_Nonsense_Mutation_p.S42*|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000350573.2_Nonsense_Mutation_p.S42*	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	42	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAACACCTCTCAGCCTCCATG	0.557000													6	43					0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169846696	169846696	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:169846696G>T	ENST00000495893.2	-	8	1595	c.1564C>A	c.(1564-1566)Cca>Aca	p.P522T	PHC3_ENST00000467570.1_Missense_Mutation_p.P469T|PHC3_ENST00000494943.1_Missense_Mutation_p.P510T	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)		Gln-rich.|Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATCTGAGCTGGAGGAGATGTC	0.517000													14	72					1.05317e-09	1.10523e-09	1	1	0
SLC5A6	8884	broad.mit.edu	37	2	27425742	27425742	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:27425742C>A	ENST00000310574.3	-	12	1687	c.1214G>T	c.(1213-1215)gGc>gTc	p.G405V	SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Missense_Mutation_p.G405V	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	405					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CAGCCCATAGCCAAAGGCTGG	0.493000													19	99					1.50039e-11	1.59272e-11	1	1	0
CANX	821	broad.mit.edu	37	5	179134191	179134191	+	Splice_Site	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr5:179134191G>A	ENST00000247461.4	+	4	504	c.304G>A	c.(304-306)Gga>Aga	p.G102R	CANX_ENST00000452673.2_Splice_Site_p.G102R|CANX_ENST00000512607.2_Intron|CANX_ENST00000503126.1_3'UTR|CANX_ENST00000504734.1_Splice_Site_p.G102R|CANX_ENST00000415618.2_Splice_Site_p.G137R	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	102					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAATATGATGGTGAGAATCC	0.353000													9	49					0	0	1	0	0
SYAP1	94056	broad.mit.edu	37	X	16775342	16775342	+	Missense_Mutation	SNP	G	G	A	rs142663946	byFrequency	TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chrX:16775342G>A	ENST00000380155.3	+	8	934	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	281								p.D281H(1)		endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					TGATGCCTTCGATGCCTGTAA	0.418000													30	51					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127426975	127426975	+	Missense_Mutation	SNP	G	G	A	rs144071063		TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr10:127426975G>A	ENST00000337623.3	+	14	1945	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	C10orf137_ENST00000356792.4_Missense_Mutation_p.E648K	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGGGGGTCCCGAGGGGCTAGA	0.433000													15	55					0	0	1	0	0
RMDN3	55177	broad.mit.edu	37	15	41037303	41037303	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr15:41037303G>A	ENST00000260385.6	-	4	1746	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	RMDN3_ENST00000558560.1_Intron|RMDN3_ENST00000338376.3_Silent_p.L227L					regulator of microtubule dynamics 3																		CCAGCCTCCAGGGCACTGGAG	0.597000													5	33					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53609099	53609099	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:53609099G>A	ENST00000425354.2	-	5	940	c.453C>T	c.(451-453)ttC>ttT	p.F151F	RARG_ENST00000394426.1_Silent_p.F151F|RARG_ENST00000543726.1_Silent_p.F129F|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Silent_p.F79F|RARG_ENST00000338561.5_Silent_p.F140F	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	151					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGCCCACTTCGAAGCACTTCT	0.552000													26	69					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135798755	135798755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr9:135798755G>T	ENST00000298552.3	-	6	709	c.488C>A	c.(487-489)tCa>tAa	p.S163*	TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000403810.1_Nonsense_Mutation_p.S163*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.S112*|TSC1_ENST00000440111.2_Nonsense_Mutation_p.S163*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	163					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			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)		CAGGCACCATGATGACAGACG	0.433000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				14	22					1.49906e-05	1.5211e-05	1	1	0
PIWIL1	9271	broad.mit.edu	37	12	130847598	130847598	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:130847598G>A	ENST00000245255.3	+	18	2376	c.2104G>A	c.(2104-2106)Gat>Aat	p.D702N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	702	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CGTGTACCGCGATGGCGTAGG	0.488000													19	55					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													3	27					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73917570	73917570	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:73917570C>G	ENST00000586717.1	-	15	1829	c.1556G>C	c.(1555-1557)gGa>gCa	p.G519A	FBF1_ENST00000319129.5_Missense_Mutation_p.G518A|FBF1_ENST00000389570.4_Missense_Mutation_p.G519A			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	518										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TGAGAGGTCTCCAGGGGCTGT	0.562000													3	18					0	0	1	0	0
GBAS	2631	broad.mit.edu	37	7	56062621	56062621	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr7:56062621G>A	ENST00000322090.3	+	8	681	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	GBAS_ENST00000446778.1_Missense_Mutation_p.E179K	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	218						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGATGGTAACGAAGCCGTCGG	0.453000													102	138					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31534263	31534263	+	Splice_Site	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr22:31534263C>T	ENST00000215885.3	-	3	1033	c.781G>A	c.(781-783)Ggg>Agg	p.G261R		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	261	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCCACGTACCCGCCCCACCAG	0.617000													3	13					0	0	1	0	0
TSPYL4	23270	broad.mit.edu	37	6	116575051	116575051	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:116575051C>T	ENST00000420283.1	-	1	210	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	41					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		TGTGTCGCCTCGGTTTCTTCA	0.672000													3	20					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137164	126137164	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:126137164C>G	ENST00000299308.3	+	8	2085	c.2077C>G	c.(2077-2079)Cag>Gag	p.Q693E	TMEM132B_ENST00000535886.1_Missense_Mutation_p.Q205E	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	693						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGATGTTCTTCAGTCCCCACA	0.602000													9	34					0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4484461	4484461	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr16:4484461G>C	ENST00000262375.6	+	2	365	c.288G>C	c.(286-288)caG>caC	p.Q96H	DNAJA3_ENST00000355296.4_Missense_Mutation_p.Q96H|DNAJA3_ENST00000572139.1_3'UTR|DNAJA3_ENST00000431375.2_Intron	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	96	J.				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						ATTATTATCAGATATTAGGAG	0.398000													51	129					0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144696807	144696807	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr8:144696807C>T	ENST00000425753.2	-	5	554	c.451G>A	c.(451-453)Gac>Aac	p.D151N	TSTA3_ENST00000529064.1_Missense_Mutation_p.D151N	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	151					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	TTCTGCACGTCGATCATCCTC	0.662000													26	40					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87964497	87964497	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:87964497G>A	ENST00000369577.3	+	8	1193	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	ZNF292_ENST00000339907.4_Missense_Mutation_p.E379K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGATGATCTGGAAGTTAAACG	0.378000													11	69					0	0	1	0	0
EMX2	2018	broad.mit.edu	37	10	119303135	119303135	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr10:119303135C>T	ENST00000553456.3	+	1	1181	c.357C>T	c.(355-357)ttC>ttT	p.F119F	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.F119F	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	119						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CGTCCACCTTCTACCCCTGGC	0.692000													5	49					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270370	1270370	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:1270370C>A	ENST00000447027.1	+	31	12327	c.12269C>A	c.(12268-12270)cCg>cAg	p.P4090Q	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P4087Q			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4087	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGACCACCCCGGGCCACACC	0.701000													6	54					0.0293803	0.0293803	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166848778	166848778	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:166848778C>T	ENST00000423058.2	-	26	5024	c.5007G>A	c.(5005-5007)gcG>gcA	p.A1669A	SCN1A_ENST00000409050.1_Silent_p.A1641A|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.A1669A|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.A1658A	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1669						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGTTAAACAACGCAGGAAGGG	0.493000													22	68					0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30095063	30095063	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr16:30095063G>A	ENST00000279387.7	+	7	733	c.565G>A	c.(565-567)Gat>Aat	p.D189N	PPP4C_ENST00000561610.1_Missense_Mutation_p.D189N	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	189					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GGTGCCTCATGATGGGCCCAT	0.617000													10	40					0	0	1	0	0
MINA	84864	broad.mit.edu	37	3	97668765	97668765	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:97668765G>C	ENST00000333396.7	-	7	1565	c.983C>G	c.(982-984)tCa>tGa	p.S328*	MINA_ENST00000394198.2_Nonsense_Mutation_p.S328*|MINA_ENST00000360258.4_Nonsense_Mutation_p.S327*	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen						ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CTTCATGTCTGAGGAAAGCAG	0.512000													9	59					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023482	18023482	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:18023482C>T	ENST00000361221.3	+	29	3606	c.3447C>T	c.(3445-3447)gaC>gaT	p.D1149D	ARHGEF10L_ENST00000375415.1_Silent_p.D1110D|ARHGEF10L_ENST00000452522.1_Silent_p.D1110D|ARHGEF10L_ENST00000167825.4_Silent_p.D852D|ARHGEF10L_ENST00000375408.3_Silent_p.D922D|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1149					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACAAGCCAGACGGGCAGGCAC	0.677000											OREG0013156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	5					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2806578	2806578	+	Silent	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr16:2806578C>G	ENST00000301740.8	+	2	762	c.213C>G	c.(211-213)ctC>ctG	p.L71L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	71						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGCGATGCCTCGAGCTGGAGG	0.622000													8	35					0	0	1	0	0
DPF1	8193	broad.mit.edu	37	19	38703011	38703011	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr19:38703011G>A	ENST00000416611.1	-	11	1158	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L	DPF1_ENST00000456296.1_Intron|DPF1_ENST00000420980.2_Silent_p.L327L|DPF1_ENST00000355526.4_Intron|DPF1_ENST00000414789.1_Intron|DPF1_ENST00000412732.1_Intron			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	327					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTGGGGGGTGAGACCCGCCC	0.682000													5	16					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39250312	39250312	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:39250312G>A	ENST00000426016.1	-	11	1343	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	SOS1_ENST00000395038.2_Silent_p.I419I|SOS1_ENST00000428721.2_3'UTR|SOS1_ENST00000402219.2_Silent_p.I419I|SOS1_ENST00000472480.1_5'UTR			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	419					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATCTTCTTGATTGCTAGTT	0.358000									Noonan syndrome				13	84					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204955124	204955124	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:204955124C>T	ENST00000367172.4	+	23	3001	c.2673C>T	c.(2671-2673)ctC>ctT	p.L891L	NFASC_ENST00000367171.4_Silent_p.L876L|NFASC_ENST00000404076.1_Silent_p.L870L|NFASC_ENST00000513543.1_Silent_p.L887L|NFASC_ENST00000338515.6_Silent_p.L891L|NFASC_ENST00000367170.4_Silent_p.L891L|NFASC_ENST00000338586.6_Silent_p.L891L|NFASC_ENST00000404907.1_Silent_p.L887L|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000360049.4_Silent_p.L887L|NFASC_ENST00000539706.1_Silent_p.L887L			O94856	NFASC_HUMAN	neurofascin	891	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTGACCGCCTCCGTGGCGTGG	0.587000													4	20					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128851343	128851343	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:128851343C>T	ENST00000310343.9	-	16	1705	c.1706G>A	c.(1705-1707)gGc>gAc	p.G569D	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.G495D|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G220D|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G220D	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	569					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GCTGATTCTGCCGCTGAACAG	0.537000													5	98					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47904867	47904867	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr7:47904867C>G	ENST00000289672.2	-	26	4146	c.4096G>C	c.(4096-4098)Gaa>Caa	p.E1366Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1366	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCAATCATTTCTTCCTGACCA	0.338000													7	22					0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13007762	13007762	+	Silent	SNP	C	C	T	rs143102910	byFrequency	TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr19:13007762C>T	ENST00000222214.5	+	9	1102	c.891C>T	c.(889-891)atC>atT	p.I297I	GCDH_ENST00000457854.1_Silent_p.I297I|GCDH_ENST00000591470.1_Silent_p.I297I|GCDH_ENST00000422947.2_Silent_p.I253I			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	297					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GGTACGGCATCGCGTGGGGCG	0.632000													8	31					0	0	1	0	0
TMEM181	57583	broad.mit.edu	37	6	159029430	159029430	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:159029430C>A	ENST00000367090.3	+	9	1161	c.1150C>A	c.(1150-1152)Cag>Aag	p.Q384K		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	384					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TGACCTCTTTCAGTCCATGTT	0.592000													20	65					3.62473e-10	3.81842e-10	1	1	0
HIST1H1C	3006	broad.mit.edu	37	6	26056218	26056218	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:26056218G>A	ENST00000343677.2	-	1	481	c.439C>T	c.(439-441)Ccg>Tcg	p.P147S		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	147					nucleosome assembly	nucleosome|nucleus	DNA binding	p.P147S(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CTCTTCTTCGGAGTTGCGCCG	0.577000													30	136					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68877531	68877531	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr16:68877531G>A	ENST00000261778.1	+	1	23	c.11G>A	c.(10-12)cGa>cAa	p.R4Q		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		ATGGCGGCCCGACAGGCCGTG	0.667000													14	39					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131381222	131381222	+	Silent	SNP	C	C	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr9:131381222C>A	ENST00000372739.3	+	44	5783	c.5673C>A	c.(5671-5673)atC>atA	p.I1891I	SPTAN1_ENST00000372731.4_Silent_p.I1886I|SPTAN1_ENST00000358161.5_Silent_p.I1891I	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1886					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						AAGCCTGGATCAATGAGAAAA	0.493000													19	33					7.07596e-05	7.15372e-05	1	1	0
PHACTR2	9749	broad.mit.edu	37	6	144086865	144086865	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:144086865G>A	ENST00000427704.2	+	6	1259	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	PHACTR2_ENST00000305766.6_Missense_Mutation_p.E297K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E388K|PHACTR2_ENST00000367584.4_Missense_Mutation_p.E365K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.E308K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	377							actin binding|protein phosphatase inhibitor activity	p.E297K(1)|p.E388K(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCTTTGGGCTGAAGAGCCGAC	0.502000													25	77					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26154062	26154062	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr13:26154062G>C	ENST00000381655.2	+	22	2126	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q	ATP8A2_ENST00000255283.8_Missense_Mutation_p.E622Q|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	622					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACGGTTGGAAGAGTGTTACGA	0.433000													10	35					0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48111320	48111320	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:48111320C>T	ENST00000422538.3	-	4	485	c.363G>A	c.(361-363)gaG>gaA	p.E121E	ENDOU_ENST00000229003.3_Silent_p.E80E|ENDOU_ENST00000542202.1_5'UTR|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_Silent_p.E58E	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	121	SMB 2.				female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						TACACAGGCTCTCAAAATCCT	0.542000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	98					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52797631	52797631	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr12:52797631C>G	ENST00000257974.2	-	2	551	c.474G>C	c.(472-474)caG>caC	p.Q158H		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	158	Linker 1.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGCAGCACCTCTGCTGCTGCA	0.577000													10	41					0	0	1	0	0
EIF3M	10480	broad.mit.edu	37	11	32608636	32608636	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:32608636G>A	ENST00000531120.1	+	2	184	c.121G>A	c.(121-123)Gat>Aat	p.D41N	EIF3M_ENST00000524896.1_Intron|EIF3M_ENST00000532054.1_3'UTR	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	41						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					ACTTCATGTTGATTTAGCTCA	0.348000													29	112					0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74074845	74074845	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:74074845C>T	ENST00000394070.2	+	5	1210	c.707C>T	c.(706-708)tCc>tTc	p.S236F	STAMBP_ENST00000339566.3_Missense_Mutation_p.S236F|STAMBP_ENST00000536064.1_Intron|STAMBP_ENST00000394073.1_Missense_Mutation_p.S236F|STAMBP_ENST00000409707.1_Missense_Mutation_p.S236F	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	236					JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GTGGACAGGTCCTTGAAACCT	0.498000													8	41					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536024	31536024	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr22:31536024C>G	ENST00000215885.3	-	1	569	c.317G>C	c.(316-318)aGa>aCa	p.R106T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	106					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGCCAGTGCTCTCTGCAGCTC	0.642000													10	17					0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144803417	144803417	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr8:144803417G>T	ENST00000338033.4	+	11	1159	c.1040G>T	c.(1039-1041)gGa>gTa	p.G347V		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	347					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGGAGTGTGGAGGCAGCAGC	0.652000													31	64					7.11191e-15	7.66752e-15	1	1	0
NDNL2	56160	broad.mit.edu	37	15	29561448	29561448	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr15:29561448G>A	ENST00000332303.4	-	1	585	c.462C>T	c.(460-462)ctC>ctT	p.L154L	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	154	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGGTGTTGATGAGGATGTAAG	0.567000													3	26					0	0	1	0	0
MRPL20	55052	broad.mit.edu	37	1	1342378	1342378	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:1342378G>C	ENST00000482352.1	-	2	181	c.109C>G	c.(109-111)Cgc>Ggc	p.R37G	MRPL20_ENST00000344843.7_Missense_Mutation_p.R37G			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	37							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGTAGCAGCGATTTTTCCTT	0.597000													43	100					0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25835623	25835623	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr3:25835623G>C	ENST00000280701.3	+	3	1117	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q	OXSM_ENST00000420173.2_Missense_Mutation_p.E257Q	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	340					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.E340K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGTGCAGCCTGAGGAGATATC	0.378000													11	50					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703011	4703011	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:4703011C>G	ENST00000396950.3	-	2	1170	c.931G>C	c.(931-933)Gac>Cac	p.D311H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGTCCTTGTCACAGCTGATC	0.443000													17	60					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75269286	75269286	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr14:75269286G>A	ENST00000325680.7	+	6	4552	c.4428G>A	c.(4426-4428)atG>atA	p.M1476I	YLPM1_ENST00000238571.3_Missense_Mutation_p.M1281I|YLPM1_ENST00000552421.1_Missense_Mutation_p.M770I	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTCAAAAGATGAAAGACTTCG	0.393000													21	36					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023369	18023369	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:18023369C>T	ENST00000205890.5	+	2	1593	c.1255C>T	c.(1255-1257)Ccg>Tcg	p.P419S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	419	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCGCCCATCCCGTCGCCCCA	0.662000													14	35					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8076560	8076560	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr18:8076560G>A	ENST00000332175.8	+	9	2586	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	PTPRM_ENST00000580170.1_Missense_Mutation_p.E517K|PTPRM_ENST00000444013.1_Missense_Mutation_p.E304K|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400060.4_Missense_Mutation_p.E517K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E455K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	517	Fibronectin type-III 3.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CACTTTATATGAGGTAATATA	0.294000													6	30					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201437743	201437743	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:201437743G>A	ENST00000357799.4	+	7	2772	c.2674G>A	c.(2674-2676)Gat>Aat	p.D892N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	892					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GTATGTTACTGATAGGAAATC	0.294000													19	83					0	0	1	0	0
CKS2	1164	broad.mit.edu	37	9	91930175	91930175	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr9:91930175G>C	ENST00000314355.6	+	2	245	c.150G>C	c.(148-150)caG>caC	p.Q50H		NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2	50					cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity			kidney(1)|large_intestine(1)	2						GTGTCCAACAGAGTCTAGGCT	0.403000													44	66					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87971439	87971439	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:87971439G>C	ENST00000369577.3	+	8	8135	c.8092G>C	c.(8092-8094)Gaa>Caa	p.E2698Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E2693Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAAAAAACTTGAAGTACATTC	0.323000													5	28					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96306226	96306226	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr10:96306226C>G	ENST00000348459.5	+	2	229	c.124C>G	c.(124-126)Cta>Gta	p.L42V	HELLS_ENST00000394036.1_Missense_Mutation_p.L42V|HELLS_ENST00000394044.1_Missense_Mutation_p.L42V|HELLS_ENST00000371332.4_Missense_Mutation_p.L42V|HELLS_ENST00000239026.6_Missense_Mutation_p.L42V|HELLS_ENST00000394045.1_Missense_Mutation_p.L42V	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	42					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AGCTGCTGGACTAGAGAGAGA	0.532000													15	46					0	0	1	0	0
CXCL17	284340	broad.mit.edu	37	19	42946982	42946982	+	Translation_Start_Site	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr19:42946982C>T	ENST00000601181.1	-	1	218	c.3G>A	c.(1-3)atG>atA	p.M1I	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_198477.1	NP_940879.1	Q6UXB2	VCC1_HUMAN	chemokine (C-X-C motif) ligand 17	1					angiogenesis|cell differentiation|chemotaxis	extracellular region				large_intestine(2)|skin(1)	3		Prostate(69;0.00899)				TTAGAACTTTCATCGCAACTG	0.493000													3	28					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534271	16534271	+	Splice_Site	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:16534271C>T	ENST00000270747.3	-	4	832	c.696G>A	c.(694-696)ggG>ggA	p.G232G		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	232					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CAGATGCTTTCCCTGGAGAGG	0.692000													9	35					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73647280	73647280	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:73647280G>A	ENST00000420326.2	-	8	1374	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	RECQL5_ENST00000423245.2_Silent_p.F378F|RECQL5_ENST00000340830.5_Silent_p.F405F|RECQL5_ENST00000584999.1_Silent_p.F405F|RECQL5_ENST00000317905.5_Silent_p.F405F	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	405					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTTCTTCACAGAAGGTCACCA	0.438000								Other identified genes with known or suspected DNA repair function					191	351					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79570892	79570892	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr10:79570892C>T	ENST00000372391.2	-	23	4428	c.4423G>A	c.(4423-4425)Gag>Aag	p.E1475K	DLG5_ENST00000372388.2_Missense_Mutation_p.E1135K|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1475					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTAGGCCCCTCGTCCTGCTCC	0.657000													5	36					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32956369	32956369	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:32956369G>A	ENST00000399302.2	+	4	3513	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	QSER1_ENST00000527788.1_Missense_Mutation_p.E821K	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1060										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGTCAAGATTGAAGAAGAAAA	0.438000													9	62					0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152290	18152290	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:18152290C>G	ENST00000375406.1	+	3	593	c.377C>G	c.(376-378)tCg>tGg	p.S126W		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	126						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CATGTCCCATCGGTCCTCCTG	0.582000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	14					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76259853	76259853	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:76259853C>T	ENST00000319942.3	+	8	861	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_Missense_Mutation_p.R90C	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	264					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						AGAGAAACTGCGTAATTTCAT	0.388000													33	104					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78320894	78320894	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:78320894C>G	ENST00000582970.1	+	29	8902	c.8759C>G	c.(8758-8760)tCa>tGa	p.S2920*	RNF213_ENST00000508628.2_Nonsense_Mutation_p.S2969*|RNF213_ENST00000336301.6_Nonsense_Mutation_p.S993*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATCTGCTCCTCAGACATCCTC	0.567000													9	16					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51190225	51190225	+	Silent	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr14:51190225G>A	ENST00000245441.5	-	31	6548	c.6358C>T	c.(6358-6360)Ctg>Ttg	p.L2120L	NIN_ENST00000530997.2_Silent_p.L2120L|NIN_ENST00000389868.3_3'UTR	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1967					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GCTGGTGTCAGATTCCTAACT	0.428000			T	PDGFRB	MPD								23	29					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26873469	26873469	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr1:26873469G>C	ENST00000374168.2	+	3	374	c.220G>C	c.(220-222)Ggc>Cgc	p.G74R	RPS6KA1_ENST00000526792.1_5'UTR|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.G74R|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.G83R|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.G58R	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	74	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGGATCCTTTGGCAAAGTGAG	0.557000													12	27					0	0	1	0	0
WDR76	79968	broad.mit.edu	37	15	44120407	44120407	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr15:44120407C>G	ENST00000263795.6	+	2	375	c.305C>G	c.(304-306)tCt>tGt	p.S102C	WDR76_ENST00000381246.2_Missense_Mutation_p.S38C	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	102										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AAAAACACATCTTCCAAGGCA	0.393000													7	72					0	0	1	0	0
RRP1	8568	broad.mit.edu	37	21	45219498	45219498	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr21:45219498G>A	ENST00000497547.1	+	9	976	c.859G>A	c.(859-861)Gac>Aac	p.D287N	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	287					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		GCAGGCAGGTGACGACAGGGA	0.642000													3	12					0	0	1	0	0
DDX6	1656	broad.mit.edu	37	11	118656795	118656795	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:118656795G>C	ENST00000264018.4	-	2	471	c.166C>G	c.(166-168)Cag>Gag	p.Q56E	DDX6_ENST00000534980.1_Missense_Mutation_p.Q56E|DDX6_ENST00000526070.2_Missense_Mutation_p.Q56E	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	56					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GCTTGCTGCTGAGTGCCATTA	0.448000			T	IGH@	B-NHL								13	65					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43184229	43184229	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:43184229C>G	ENST00000252050.4	+	31	6354	c.6270C>G	c.(6268-6270)caC>caG	p.H2090Q	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.H2062Q|CUL9_ENST00000354495.3_Missense_Mutation_p.H1980Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2090					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTGCATGCACTATTGCTGTA	0.592000													23	94					0	0	1	0	0
YAP1	10413	broad.mit.edu	37	11	102076777	102076777	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr11:102076777G>A	ENST00000282441.5	+	5	1344	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	YAP1_ENST00000537274.1_Missense_Mutation_p.R319Q|YAP1_ENST00000526343.1_Missense_Mutation_p.R281Q|YAP1_ENST00000531439.1_Missense_Mutation_p.R319Q|YAP1_ENST00000524575.1_Missense_Mutation_p.R141Q|YAP1_ENST00000345877.2_Missense_Mutation_p.R281Q	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	319	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GAGAGGCTGCGGCTGAAACAG	0.547000													5	40					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51065763	51065763	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr22:51065763C>T	ENST00000547307.1	-	2	695	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	ARSA_ENST00000216124.5_Missense_Mutation_p.R99Q|ARSA_ENST00000547805.1_Missense_Mutation_p.R97Q|ARSA_ENST00000356098.5_Missense_Mutation_p.R99Q|ARSA_ENST00000453344.2_Missense_Mutation_p.R13Q|ARSA_ENST00000395619.3_Missense_Mutation_p.R99Q|ARSA_ENST00000395621.3_Missense_Mutation_p.R99Q			P15289	ARSA_HUMAN	arylsulfatase A	97						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CAGGCCCCCCCGGGAGCTGGG	0.706000													3	3					0	0	1	0	0
DTWD1	56986	broad.mit.edu	37	15	49924441	49924441	+	Missense_Mutation	SNP	A	A	C			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr15:49924441A>C	ENST00000251250.6	+	4	557	c.350A>C	c.(349-351)gAa>gCa	p.E117A	DTWD1_ENST00000403028.3_Missense_Mutation_p.E117A|DTWD1_ENST00000558653.1_Missense_Mutation_p.E117A|DTWD1_ENST00000415425.1_Missense_Mutation_p.E30A|DTWD1_ENST00000559223.1_3'UTR	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	117										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TTAGCACCTGAATTTGTAAAC	0.323000													4	52					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152031185	152031185	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chrX:152031185G>A	ENST00000370274.3	+	5	654	c.460G>A	c.(460-462)Gat>Aat	p.D154N	NSDHL_ENST00000440023.1_Missense_Mutation_p.D154N	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	154					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TGAGGGCGTCGATATCAAGAA	0.408000													32	27					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563664	140563664	+	Silent	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr5:140563664C>T	ENST00000361016.2	+	1	2685	c.1530C>T	c.(1528-1530)aaC>aaT	p.N510N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		510	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCAGACAACGGCCACCTGT	0.682000													9	54					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7559514	7559514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:7559514C>T	ENST00000379802.3	+	4	819	c.478C>T	c.(478-480)Cga>Tga	p.R160*	DSP_ENST00000418664.2_Nonsense_Mutation_p.R160*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	160	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.R160G(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAGTGTCCCTCGAGTCCGCAG	0.507000													44	184					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102551163	102551163	+	Missense_Mutation	SNP	T	T	A	rs55793809	byFrequency	TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr14:102551163T>A	ENST00000334701.7	-	6	1483	c.1202A>T	c.(1201-1203)aAg>aTg	p.K401M	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.K100M|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.K279M	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	279					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	ttccttaatcttcttcttctt	0.393000													16	21					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100176889	100176889	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr2:100176889C>T	ENST00000409236.2	-	19	3241	c.3129G>A	c.(3127-3129)atG>atA	p.M1043I	AFF3_ENST00000317233.4_Missense_Mutation_p.M1043I|AFF3_ENST00000356421.2_Missense_Mutation_p.M1068I|AFF3_ENST00000409579.1_Missense_Mutation_p.M1068I			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTTTAGTCTCATAGCATACC	0.413000													11	44					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160299	41160300	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr5:41160299_41160300delAC	ENST00000263413.3	-	11	1892_1893	c.1628_1629delGT	c.(1627-1629)tgtfs	p.C543fs	C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	543	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCCACTCTGACACACACACAG	0.475													8	241	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32942379	32942379	+	Frame_Shift_Del	DEL	C	C	-	rs141240562		TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr6:32942379delC	ENST00000395289.2	+	3	1771	c.170delC	c.(169-171)accfs	p.T57fs	BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000374831.4_Frame_Shift_Del_p.T57fs|BRD2_ENST00000374825.4_Frame_Shift_Del_p.T57fs|BRD2_ENST00000395287.1_Frame_Shift_Del_p.T57fs|BRD2_ENST00000449085.2_Frame_Shift_Del_p.T10fs			P25440	BRD2_HUMAN	bromodomain containing 2	57					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TTGCAACTTACCCCTGCCAAC	0.547													10	54	---	---	---	---					
COG6	57511	broad.mit.edu	37	13	40298699	40298700	+	Splice_Site	INS	-	-	T			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr13:40298699_40298700insT	ENST00000416691.1	+	17	1846		c.e17+1		COG6_ENST00000455146.3_Splice_Site	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6						protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		GGCTGCAATGGTAAGTGTATAA	0.312													22	63	---	---	---	---					
NMT1	4836	broad.mit.edu	37	17	43182233	43182233	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr17:43182233delT	ENST00000592782.1	+	12	1470	c.1339delT	c.(1339-1341)tttfs	p.F447fs	NMT1_ENST00000258960.2_Frame_Shift_Del_p.F447fs			P30419	NMT1_HUMAN	N-myristoyltransferase 1	447					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GCAGAAAGGGTTTGATGTGTT	0.498													8	49	---	---	---	---					
IGLV3-12	28802	broad.mit.edu	37	22	23114749	23114750	+	RNA	DEL	TT	TT	-	rs74864698		TCGA-GU-A766-01A-11D-A32B-08	TCGA-GU-A766-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e88ced54-85f4-4dd8-bcf9-5e65b3528783	18fbf76a-413c-43fb-a0b2-8ab13184e11c	g.chr22:23114749_23114750delTT	ENST00000390313.2	+	0	55																											CATCCTCTCCTTTTTTTTTTTT	0.500													4	2	---	---	---	---					
