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
SDC1	6382	broad.mit.edu	37	2	20403660	20403660	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:20403660C>G	ENST00000381150.1	-	4	931	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.E181Q	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	181					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	p.E181Q(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CCTCCATCCTCTGTGTGGGGA	0.657000													25	104					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65288649	65288649	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:65288649G>C	ENST00000284037.5	+	3	492	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E35Q|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E35Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	35					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	p.E35Q(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTGCAGCTTAGAACAAGTTCC	0.393000													6	140					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98941397	98941397	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:98941397G>A	ENST00000556029.1	+	9	1482	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	TMPO_ENST00000343315.5_Missense_Mutation_p.E336K|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Missense_Mutation_p.E267K	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	376	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGGCCATTAGAACTCAGTGA	0.418000													9	93					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38048524	38048524	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:38048524G>C	ENST00000373062.3	-	7	748	c.650C>G	c.(649-651)tCa>tGa	p.S217*		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	217					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	p.S217*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TACAACATCTGATGAATCTAT	0.373000													8	120					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003459	75003459	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:75003459G>C	ENST00000373359.2	-	1	1620	c.1428C>G	c.(1426-1428)atC>atG	p.I476M		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	476	MAGE 2.							p.I476M(1)|p.I476I(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTCATTTTGATGGTTTCAT	0.493000													14	151					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4242554	4242554	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr16:4242554C>T	ENST00000399609.3	-	6	1034	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	SRL_ENST00000537996.1_Missense_Mutation_p.R299H	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	800	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.R341H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GGCGTGGATGCGGACCCGGAT	0.512000													6	310					0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862710	1862710	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:1862710G>T	ENST00000381906.1	+	8	547	c.478G>T	c.(478-480)Gac>Tac	p.D160Y	TNNI2_ENST00000252898.7_Missense_Mutation_p.D160Y|TNNI2_ENST00000381911.1_Missense_Mutation_p.D160Y|TNNI2_ENST00000381905.3_Missense_Mutation_p.D160Y	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	160					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	p.D160Y(1)		lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGACGTGGGTGACTGGAGGAA	0.627000													5	116					1	1	1	1	0
LRP1	4035	broad.mit.edu	37	12	57594926	57594926	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:57594926G>A	ENST00000243077.3	+	65	10801	c.10335G>A	c.(10333-10335)gaG>gaA	p.E3445E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3445	LDL-receptor class A 23.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.E3445E(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGAGGATGAGAGGGACTGCC	0.592000													16	230					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													5	34					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82456080	82456080	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:82456080T>C	ENST00000370728.1	+	25	4276	c.3631T>C	c.(3631-3633)Tca>Cca	p.S1211P	LPHN2_ENST00000319517.6_Missense_Mutation_p.S1155P|LPHN2_ENST00000370727.1_Missense_Mutation_p.S1183P|LPHN2_ENST00000359929.3_Missense_Mutation_p.S1155P|LPHN2_ENST00000370713.1_Silent_p.I1122I|LPHN2_ENST00000370721.1_Missense_Mutation_p.S1136P|LPHN2_ENST00000335786.5_Missense_Mutation_p.S1168P|LPHN2_ENST00000370730.1_Missense_Mutation_p.S1168P|LPHN2_ENST00000394879.1_Missense_Mutation_p.S1213P|LPHN2_ENST00000370725.1_Missense_Mutation_p.S1226P|LPHN2_ENST00000271029.4_Missense_Mutation_p.S1183P|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Missense_Mutation_p.S1213P|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.S1226P			O95490	LPHN2_HUMAN	latrophilin 2	1211					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.S1226P(1)|p.S1155P(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTCAGGACATTCACTGAACAA	0.403000													13	224					0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140012043	140012043	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:140012043T>G	ENST00000302014.6	-	2	1155	c.526A>C	c.(526-528)Agc>Cgc	p.S176R	CD14_ENST00000401743.2_Missense_Mutation_p.S176R	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	176					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	p.S176R(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAATGCTCAGTACCTTG	0.617000													10	54					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110494845	110494845	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:110494845C>T	ENST00000324068.1	-	6	992	c.825G>A	c.(823-825)gaG>gaA	p.E275E	CAPN6_ENST00000541758.1_Silent_p.E20E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	275	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.E275E(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TATACACCTTCTCAGCACTGA	0.473000													61	667					0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111434033	111434033	+	Translation_Start_Site	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:111434033G>A	ENST00000271324.5	+	2	115	c.3G>A	c.(1-3)atG>atA	p.M1I	CD53_ENST00000429072.2_Start_Codon_SNP_p.M1I	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	1					signal transduction	integral to membrane|plasma membrane		p.M1I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATCACGGCATGGGCATGAGTA	0.428000													7	123					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197106927	197106927	+	Splice_Site	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:197106927A>G	ENST00000260983.2	-	20	3713	c.3529_splice	c.e20-1	p.G1177_splice	HECW2_ENST00000409111.1_Splice_Site_p.G821_splice	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1177					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.G1177G(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CACGCTGGGTACCTGCAGCAA	0.473000													27	119					0	0	1	0	0
PRG3	10394	broad.mit.edu	37	11	57144338	57144338	+	Missense_Mutation	SNP	G	G	T	rs141251058	byFrequency	TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:57144338G>T	ENST00000287143.2	-	6	772	c.663C>A	c.(661-663)ttC>ttA	p.F221L		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	221	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	p.F221L(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						AGGAGCAGACGAAGGGCAGTT	0.602000													18	281					1.2644e-06	1.38635e-06	1	1	0
CYP26C1	340665	broad.mit.edu	37	10	94828109	94828109	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:94828109G>A	ENST00000285949.5	+	6	1224	c.1224G>A	c.(1222-1224)atG>atA	p.M408I		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	408					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.M408I(1)		central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GGAGCGTGATGTATAGCATCC	0.662000													12	108					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956427	96956427	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:96956427G>A	ENST00000323853.5	-	19	2625	c.2548C>T	c.(2548-2550)Ctg>Ttg	p.L850L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	850	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.L850L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGTACCTGCAGAATGTCCAGT	0.502000													27	346					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197581296	197581296	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:197581296G>A	ENST00000438796.2	+	14	1668	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	LRCH3_ENST00000425562.2_Missense_Mutation_p.D542N|LRCH3_ENST00000414675.2_Missense_Mutation_p.D514N|LRCH3_ENST00000334859.4_Missense_Mutation_p.D542N|LRCH3_ENST00000536618.1_Missense_Mutation_p.D137N|LRCH3_ENST00000441090.2_Missense_Mutation_p.D388N			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	542						extracellular region		p.D542N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCAGCACACTGATGATAGTGC	0.423000													19	95					0	0	1	0	0
GCH1	2643	broad.mit.edu	37	14	55312565	55312565	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:55312565C>G	ENST00000491895.2	-	5	735	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	GCH1_ENST00000395514.1_Missense_Mutation_p.E183Q|GCH1_ENST00000536224.2_Missense_Mutation_p.E183Q|GCH1_ENST00000543643.2_Missense_Mutation_p.E183Q|GCH1_ENST00000254299.4_5'UTR	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	183					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding	p.E183Q(1)		endometrium(2)|lung(7)|skin(2)	11						GTAAGGCGCTCCTGAACTGTG	0.453000													10	137					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26589764	26589764	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:26589764G>T	ENST00000376261.3	+	16	2135	c.1632G>T	c.(1630-1632)atG>atT	p.M544I	GAD2_ENST00000259271.3_Missense_Mutation_p.M544I	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	544					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAACCACAATGGTCAGCTACC	0.493000													5	153					0.014758	0.0155499	1	1	0
MKRN3	7681	broad.mit.edu	37	15	23811198	23811198	+	Missense_Mutation	SNP	G	G	T	rs140349866		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr15:23811198G>T	ENST00000314520.3	+	1	745	c.269G>T	c.(268-270)cGa>cTa	p.R90L	MKRN3_ENST00000564592.1_Missense_Mutation_p.R90L|MKRN3_ENST00000568252.1_Missense_Mutation_p.R90L	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	90						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.R90L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTGCCAAGCCGAAGCAGCGGC	0.602000													3	65					0.115264	0.118557	1	1	0
WDR47	22911	broad.mit.edu	37	1	109525326	109525326	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:109525326C>G	ENST00000357672.3	-	11	2462	c.2087G>C	c.(2086-2088)gGa>gCa	p.G696A	WDR47_ENST00000400794.3_Missense_Mutation_p.G732A|WDR47_ENST00000369965.4_Missense_Mutation_p.G725A|WDR47_ENST00000369962.3_Missense_Mutation_p.G724A|WDR47_ENST00000361054.3_Missense_Mutation_p.G696A			O94967	WDR47_HUMAN	WD repeat domain 47	724								p.G725A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TAAAATAGCTCCTCCGCTTTC	0.413000													7	198					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28260068	28260068	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr15:28260068C>A	ENST00000354638.3	-	9	1053	c.898G>T	c.(898-900)Gtg>Ttg	p.V300L	OCA2_ENST00000382996.2_Missense_Mutation_p.V300L|OCA2_ENST00000353809.5_Missense_Mutation_p.V300L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	300					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.V300L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTGATGGACACCGTCTCTCTG	0.537000									Oculocutaneous Albinism				9	25					2.31682e-05	2.51474e-05	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47979820	47979820	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:47979820C>T	ENST00000289672.2	-	3	305	c.255G>A	c.(253-255)caG>caA	p.Q85Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	85					cell-cell adhesion	integral to membrane		p.Q85Q(1)	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						AGGATGGGCTCTGTGATTCCC	0.468000													4	230					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688017	62688017	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr6:62688017G>A	ENST00000281156.4	-	4	715	c.437C>T	c.(436-438)tCa>tTa	p.S146L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.S146L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ACTCATACGTGAATAAGCTTC	0.368000													10	85					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153664138	153664138	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:153664138C>T	ENST00000369762.2	+	10	1375	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	438					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.F438F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					TCATGCTCTTCATCTTCACCT	0.547000													9	618					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155207965	155207965	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:155207965C>T	ENST00000428024.2	-	5	962	c.460G>A	c.(460-462)Gga>Aga	p.G154R	GBA_ENST00000536770.1_Missense_Mutation_p.G128R|GBA_ENST00000427500.2_Missense_Mutation_p.G192R|GBA_ENST00000327247.5_Missense_Mutation_p.G241R|GBA_ENST00000368373.3_Missense_Mutation_p.G241R	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	241					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	p.G241R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TAGATGTCTCCGGGCTGTCCC	0.567000									Gaucher disease type I				8	86					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33338106	33338106	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr20:33338106G>A	ENST00000374796.2	-	10	4462	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S631F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	631	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.S631F(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGGCCCTGGGAGGGCACGAT	0.572000													4	132					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120322385	120322385	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:120322385G>C	ENST00000397843.2	+	22	2174	c.2008G>C	c.(2008-2010)Gct>Cct	p.A670P	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.A651P|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.A567P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	670					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.A670P(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GTCTTCTGTAGCTTCAGGGGC	0.463000			T	MLL	AML								5	42					0	0	1	0	0
SPRYD4	283377	broad.mit.edu	37	12	56862988	56862988	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:56862988C>G	ENST00000338146.5	+	2	326	c.251C>G	c.(250-252)aCc>aGc	p.T84S		NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	84	B30.2/SPRY.					nucleus		p.T84S(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ACAGCGGTCACCAGTGGCAGA	0.582000													11	202					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113694818	113694818	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:113694818G>A	ENST00000297405.5	-	16	2774	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W	CSMD3_ENST00000455883.2_Missense_Mutation_p.R740W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R844W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R804W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	844	Sushi 4.					integral to membrane|plasma membrane		p.R844W(2)|p.R804W(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAAACCGCCGTGCATTGATT	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	151					0	0	1	0	0
HMP19	51617	broad.mit.edu	37	5	173531304	173531304	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:173531304C>G	ENST00000303177.3	+	4	549	c.287C>G	c.(286-288)aCc>aGc	p.T96S	NSG2_ENST00000521585.1_Intron|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1												p.T96S(1)									AAAGCCTTCACCTATGATCAC	0.473000													15	72					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153745528	153745528	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:153745528G>A	ENST00000456435.1	+	28	3788	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	INTS3_ENST00000318967.2_Missense_Mutation_p.E1008K|INTS3_ENST00000435409.2_Missense_Mutation_p.E1008K|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Missense_Mutation_p.E868K			Q68E01	INT3_HUMAN	integrator complex subunit 3	1009					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	p.E1008K(2)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCCCAATGCCGAAGAAGAGTC	0.607000													36	261					0	0	1	0	0
TRMT2A	27037	broad.mit.edu	37	22	20102949	20102949	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr22:20102949C>G	ENST00000252136.7	-	4	1118	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.E244Q|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E244Q|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E244Q	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	244					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	p.E244Q(1)		breast(2)|endometrium(2)|lung(5)	9						ACCAGAAACTCACACTTATTA	0.607000													4	134					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153539356	153539356	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:153539356C>G	ENST00000369915.3	+	4	709	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Missense_Mutation_p.Q118E	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	174					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	p.Q174E(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					AAACATCTATCAGAGGCGCTG	0.507000													14	131					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16701570	16701570	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:16701570C>T	ENST00000513610.1	-	25	3388	c.2934G>A	c.(2932-2934)gaG>gaA	p.E978E	MYO10_ENST00000427430.2_Silent_p.E335E|MYO10_ENST00000515803.1_Silent_p.E317E|MYO10_ENST00000505695.1_Silent_p.E317E|MYO10_ENST00000274203.9_Silent_p.E335E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	978					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.E978E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGTTGGGCTTCTCCTCGCATG	0.597000													5	41					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143027907	143027907	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:143027907T>G	ENST00000343257.2	+	8	983	c.896T>G	c.(895-897)gTt>gGt	p.V299G	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	299					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.V299G(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TACTTTGCTGTTCGGAACTAC	0.552000													40	78					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016133	27016133	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:27016133C>T	ENST00000318627.2	+	1	506	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	20						extracellular region|Golgi apparatus		p.F20F(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AAGGCTACTTCGATGGCCCCC	0.542000													22	138					0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140022504	140022504	+	Silent	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:140022504C>G	ENST00000252100.6	+	7	726	c.702C>G	c.(700-702)gcC>gcG	p.A234A	TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000394671.3_Intron|NDUFA2_ENST00000510680.1_Intron			Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	230					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTTCTGCCAGCAGCTCCA	0.562000													10	105					0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18354719	18354719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:18354719G>A	ENST00000265963.4	+	2	258	c.98G>A	c.(97-99)tGg>tAg	p.W33*	GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000453096.2_Nonsense_Mutation_p.W33*	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	33					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	p.W33*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AGAATTGCTTGGGCACCTGAA	0.388000								Nucleotide excision repair (NER)					10	161					0	0	1	0	0
FHL3	2275	broad.mit.edu	37	1	38463709	38463709	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:38463709G>A	ENST00000373016.3	-	4	595	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	143	LIM zinc-binding 2.				muscle organ development		zinc ion binding	p.P143S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622000													5	195					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867517	6867517	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:6867517G>C	ENST00000299454.4	+	1	635	c.604G>C	c.(604-606)Gtc>Ctc	p.V202L	OR10A5_ENST00000379831.2_Missense_Mutation_p.V206L			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V202L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTACGCCATCGTCGGAACCAT	0.512000													4	252					0	0	1	0	0
DNAJB2	3300	broad.mit.edu	37	2	220147600	220147600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:220147600C>T	ENST00000336576.5	+	6	682	c.394C>T	c.(394-396)Cga>Tga	p.R132*	DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Nonsense_Mutation_p.R132*	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	132					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	p.R132*(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGGGTTCCCGACACTCAGG	0.537000													14	158					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44740468	44740468	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:44740468G>C	ENST00000313040.7	+	6	2090	c.1885G>C	c.(1885-1887)Gag>Cag	p.E629Q	ZNF227_ENST00000391961.2_Missense_Mutation_p.E578Q|ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000589005.1_Missense_Mutation_p.E578Q	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E629Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CCATACTGGAGAGAAGCCATA	0.463000													4	63					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200972738	200972738	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:200972738C>T	ENST00000332129.2	-	8	1504	c.1188G>A	c.(1186-1188)caG>caA	p.Q396Q	KIF21B_ENST00000360529.5_Silent_p.Q396Q|KIF21B_ENST00000461742.2_Silent_p.Q396Q|KIF21B_ENST00000422435.2_Silent_p.Q396Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q396Q(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCAGCTCCATCTGCAGCCGAG	0.577000													15	100					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38151719	38151719	+	Silent	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:38151719C>G	ENST00000308059.6	+	23	3411	c.3390C>G	c.(3388-3390)ctC>ctG	p.L1130L	DLEC1_ENST00000452631.2_Silent_p.L1133L|DLEC1_ENST00000346219.3_Silent_p.L1130L			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1130					negative regulation of cell proliferation	cytoplasm		p.L1130L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTTCTCCCTCAAGTTTGAGT	0.557000													15	177					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424091	56424091	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:56424091C>G	ENST00000588751.1	-	5	1116	c.1092G>C	c.(1090-1092)aaG>aaC	p.K364N	NLRP13_ENST00000342929.3_Missense_Mutation_p.K364N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	364	NACHT.						ATP binding	p.K364N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAACCAGGTCTTGATCGTGA	0.458000													22	153					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591892	125591892	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr4:125591892C>A	ENST00000504087.1	-	4	3577	c.2540G>T	c.(2539-2541)gGa>gTa	p.G847V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.G668V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	847								p.G847V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AGGTGTCCATCCAGCATCATC	0.433000													11	186					4.36969e-10	4.86522e-10	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5190093	5190093	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:5190093G>A	ENST00000274181.7	+	7	1195	c.1057G>A	c.(1057-1059)Gtg>Atg	p.V353M	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.V353M	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	353	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V353M(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCAGGACTGGTGATAAGTCA	0.473000													6	273					0	0	1	0	0
PYCRL	65263	broad.mit.edu	37	8	144689207	144689207	+	Silent	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:144689207G>C	ENST00000220966.6	-	3	317	c.288C>G	c.(286-288)gtC>gtG	p.V96V	PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	84					proline biosynthetic process		pyrroline-5-carboxylate reductase activity	p.V84V(1)		central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	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)			CCTCTGCCAGGACAGCTGGCA	0.627000													9	93					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100258036	100258036	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr9:100258036C>T	ENST00000355295.4	+	17	3463	c.3168C>T	c.(3166-3168)gtC>gtT	p.V1056V	TDRD7_ENST00000540902.1_Silent_p.V376V|TDRD7_ENST00000422139.2_Silent_p.V982V	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1056	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	p.V1056V(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGCAGACAGTCATTGAAAATG	0.478000													23	154					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	193059202	193059202	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:193059202C>T	ENST00000409056.3	-	1	48	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TMEFF2_ENST00000392314.1_Missense_Mutation_p.E17K|TMEFF2_ENST00000272771.5_Missense_Mutation_p.E17K			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	17						extracellular region|integral to membrane		p.E17K(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CAAAAGCCCTCGCAAAGTGTC	0.592000													6	42					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2108903	2108903	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:2108903C>T	ENST00000406869.1	-	12	1701	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	MAD1L1_ENST00000265854.7_Missense_Mutation_p.E382K|MAD1L1_ENST00000399654.2_Missense_Mutation_p.E382K|MAD1L1_ENST00000402746.1_Missense_Mutation_p.E290K			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	382	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	p.E382K(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TTCCTCTCCTCCAACAGCTGG	0.637000													6	102					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77685839	77685839	+	Splice_Site	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:77685839A>G	ENST00000298351.4	+	4	294		c.e4-1		RP11-463C8.4_ENST00000557752.1_Splice_Site	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C							integral to membrane		p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTGGCCTGTAGCTCGTCCTT	0.597000													3	185					0	0	1	0	0
RPP30	10556	broad.mit.edu	37	10	92660374	92660374	+	Silent	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:92660374C>A	ENST00000413330.1	+	11	780	c.745C>A	c.(745-747)Cgg>Agg	p.R249R	RPP30_ENST00000371703.3_Silent_p.R249R|RPP30_ENST00000489806.1_3'UTR	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	249					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.R249R(2)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						GAAGAAACCTCGGCCATCAGA	0.418000													5	265					0.014758	0.0155499	1	1	0
CNP	1267	broad.mit.edu	37	17	40125572	40125572	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:40125572G>A	ENST00000393892.2	+	4	1040	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	CNP_ENST00000591072.1_Missense_Mutation_p.R64Q|CNP_ENST00000393888.1_Missense_Mutation_p.R279Q|CNP_ENST00000472031.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	299					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding	p.R279Q(1)|p.R299Q(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		ACTGGGGCCCGGGTGGAGTTA	0.587000													6	351					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135098287	135098287	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:135098287G>A	ENST00000428680.2	-	6	916	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	CNOT4_ENST00000423368.2_Missense_Mutation_p.L213F|CNOT4_ENST00000451834.1_Missense_Mutation_p.L213F|CNOT4_ENST00000361528.4_Missense_Mutation_p.L213F|CNOT4_ENST00000356162.4_Missense_Mutation_p.L213F|CNOT4_ENST00000414802.1_Missense_Mutation_p.L213F|CNOT4_ENST00000315544.5_Missense_Mutation_p.L213F|CNOT4_ENST00000541284.1_Missense_Mutation_p.L213F	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	213					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.L213F(4)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AATTCATGAAGATACATGCAG	0.418000													5	80					0	0	1	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10707679	10707679	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr6:10707679G>C	ENST00000379568.3	+	8	1063	c.772G>C	c.(772-774)Gag>Cag	p.E258Q		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	258					negative regulation of signal transduction	nucleolus|plasma membrane		p.E258Q(1)		kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TGAAATTCCAGAGCATCATGT	0.328000													11	226					0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42744180	42744180	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:42744180C>G	ENST00000372572.1	-	5	519	c.208G>C	c.(208-210)Gaa>Caa	p.E70Q	FOXJ3_ENST00000361776.1_Missense_Mutation_p.E70Q|FOXJ3_ENST00000372573.1_Missense_Mutation_p.E70Q|FOXJ3_ENST00000361346.1_Missense_Mutation_p.E70Q|FOXJ3_ENST00000545068.1_Missense_Mutation_p.E70Q	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	70					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.E70Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGTTGGACTTCTTCCTGGTCC	0.403000													20	308					0	0	1	0	0
ZNF691	51058	broad.mit.edu	37	1	43316857	43316857	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:43316857G>T	ENST00000372504.1	+	5	644	c.294G>T	c.(292-294)agG>agT	p.R98S	ZNF691_ENST00000372507.1_Missense_Mutation_p.R76S|ZNF691_ENST00000372508.3_Missense_Mutation_p.R76S|ZNF691_ENST00000372506.1_Missense_Mutation_p.R76S|ZNF691_ENST00000397044.3_Missense_Mutation_p.R107S|ZNF691_ENST00000372502.1_Missense_Mutation_p.R98S			Q5VV52	ZN691_HUMAN	zinc finger protein 691	107						nucleus	DNA binding|zinc ion binding	p.R76S(1)|p.R107S(1)		large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCATCCAAGGCATGAGGCAG	0.512000													11	350					3.07112e-06	3.35031e-06	1	1	0
LEPRE1	64175	broad.mit.edu	37	1	43215957	43215957	+	Silent	SNP	G	G	A	rs140334418		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:43215957G>A	ENST00000236040.4	-	11	1660	c.1620C>T	c.(1618-1620)aaC>aaT	p.N540N	LEPRE1_ENST00000296388.5_Silent_p.N540N|LEPRE1_ENST00000397054.3_Silent_p.N540N	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	540					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.N540N(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCCGTCACGTTGTAGTACA	0.562000													4	44					0	0	1	0	0
GLRX3	10539	broad.mit.edu	37	10	131973145	131973145	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:131973145C>T	ENST00000368644.1	+	9	861	c.839C>T	c.(838-840)aCa>aTa	p.T280I	GLRX3_ENST00000331244.5_Missense_Mutation_p.T280I	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	280	Glutaredoxin 2.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity	p.T280I(2)		endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		GAATATGAAACATTCGATATA	0.323000													16	139					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103348790	103348790	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:103348790C>T	ENST00000358392.2	-	64	5289	c.4972G>A	c.(4972-4974)Gag>Aag	p.E1658K	COL11A1_ENST00000512756.1_Missense_Mutation_p.E1530K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1607K|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1646K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1646	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.E1658K(1)|p.E1658*(1)|p.E1646*(1)|p.E1646K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGCAAGTCTCACCACCAGAT	0.378000													4	125					0	0	1	0	0
ACN9	57001	broad.mit.edu	37	7	96810322	96810322	+	Splice_Site	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:96810322A>G	ENST00000432641.2	+	2	1308		c.e2-1		ACN9_ENST00000360382.4_Splice_Site|ACN9_ENST00000479853.1_Splice_Site	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)						regulation of gluconeogenesis	mitochondrial intermembrane space		p.?(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TTATCTTTTTAGGTGTATGCA	0.328000													5	31					0	0	1	0	0
MEST	4232	broad.mit.edu	37	7	130143804	130143804	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:130143804T>G	ENST00000223215.4	+	11	1078	c.857T>G	c.(856-858)gTa>gGa	p.V286G	MEST_ENST00000416162.2_Missense_Mutation_p.V243G|MEST_ENST00000393187.1_Missense_Mutation_p.V277G|MEST_ENST00000378576.4_Missense_Mutation_p.V243G|MEST_ENST00000437945.1_Intron|MEST_ENST00000341441.4_Missense_Mutation_p.V277G	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	286					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	p.V286G(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TTGGATCCTGTAAATCCCTAT	0.398000													14	177					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197531497	197531497	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:197531497C>G	ENST00000389175.4	+	7	952	c.817C>G	c.(817-819)Caa>Gaa	p.Q273E	CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	273								p.Q273E(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACAGAGCGCTCAAGAACTACT	0.358000													6	21					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103291157	103291157	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:103291157C>G	ENST00000520539.1	-	44	6791	c.6185G>C	c.(6184-6186)aGa>aCa	p.R2062T	UBR5_ENST00000220959.4_Missense_Mutation_p.R2062T|UBR5_ENST00000521922.1_Missense_Mutation_p.R2056T	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2062					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.R2062K(1)|p.R2062T(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATCCTCCTTTCTAGCATTTGG	0.348000													13	221					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760896	62760896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:62760896C>T	ENST00000311438.8	-	9	1528	c.1529G>A	c.(1528-1530)tGg>tAg	p.W510*	SLC22A8_ENST00000545207.1_Splice_Site_p.W419_splice|SLC22A8_ENST00000535878.1_Splice_Site_p.W387_splice|SLC22A8_ENST00000336232.2_Splice_Site_p.W510_splice|SLC22A8_ENST00000430500.2_Splice_Site_p.W510_splice			Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	510					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.W510*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGTGACTGACCAGTTTTCCAG	0.617000													10	123					0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69697274	69697274	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:69697274C>G	ENST00000409014.1	+	6	958	c.301C>G	c.(301-303)Cgt>Ggt	p.R101G	EXD2_ENST00000312994.5_Missense_Mutation_p.R226G|EXD2_ENST00000449989.1_Missense_Mutation_p.R101G|EXD2_ENST00000409949.1_Missense_Mutation_p.R101G|EXD2_ENST00000409675.1_Missense_Mutation_p.R101G|EXD2_ENST00000409242.1_Missense_Mutation_p.R101G|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409018.3_Missense_Mutation_p.R226G	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	101	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.R101G(1)|p.R226G(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCTTCTACTTCGTTGCAGCAA	0.423000													18	188					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	251536	251536	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:251536G>C	ENST00000264932.6	+	13	1862	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.E535Q|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	583					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.E583Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CTACGGAGCAGAGGCACGGAA	0.612000									Familial Paragangliomas				9	206					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													3	18					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121636514	121636514	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:121636514G>C	ENST00000393386.2	+	9	1418	c.1007G>C	c.(1006-1008)cGa>cCa	p.R336P	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R336P	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	336	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.R336P(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAAAGACCTCGAGTCGTTTAT	0.408000													4	138					0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	121019082	121019082	+	Missense_Mutation	SNP	C	C	T	rs141805893		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:121019082C>T	ENST00000286234.5	+	7	1094	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Missense_Mutation_p.P221S	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	322					intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	p.P322S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ACTCCTTACTCCCGGGGCTCC	0.512000													4	76					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178359365	178359365	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:178359365G>A	ENST00000361362.2	+	5	1581	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	ZFP2_ENST00000503510.2_Missense_Mutation_p.E351K|ZFP2_ENST00000520301.1_Missense_Mutation_p.E351K|ZFP2_ENST00000523286.1_Missense_Mutation_p.E351K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E351K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCACACTGGAGAGAAACCTTA	0.413000													7	87					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43548608	43548608	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:43548608C>T	ENST00000395891.1	+	24	4512	c.3907C>T	c.(3907-3909)Ctg>Ttg	p.L1303L	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Silent_p.L1269L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1303	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.L1303L(1)|p.L1282L(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTTCTTCCTTCTGTCTCAGGA	0.527000													16	307					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66460707	66460707	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:66460707G>A	ENST00000404260.3	+	29	6017	c.5709G>A	c.(5707-5709)agG>agA	p.R1903R	MAST4_ENST00000403625.2_Silent_p.R1900R|MAST4_ENST00000403666.1_Silent_p.R1711R|MAST4_ENST00000261569.7_Silent_p.R1706R|MAST4_ENST00000405643.1_Silent_p.R1721R			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1903						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R1903R(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAGGGACAGGAAAGGTCCCC	0.567000													6	69					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71713353	71713353	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr16:71713353C>T	ENST00000393524.2	-	6	1709	c.976G>A	c.(976-978)Gag>Aag	p.E326K	PHLPP2_ENST00000356272.3_Missense_Mutation_p.E326K|PHLPP2_ENST00000568954.1_Missense_Mutation_p.E326K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E326K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.E361K			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	326						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.E326K(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGGTTGAGCTCAGTCAGGGTA	0.398000													10	96					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167510457	167510457	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:167510457G>T	ENST00000295777.5	+	4	992	c.561G>T	c.(559-561)aaG>aaT	p.K187N	SERPINI1_ENST00000446050.2_Missense_Mutation_p.K187N	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	187					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.K187N(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TCTATTTCAAGGGGAACTGGA	0.383000													6	99					0.0293803	0.0306577	1	1	0
SIDT1	54847	broad.mit.edu	37	3	113285349	113285349	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:113285349A>C	ENST00000264852.4	+	2	1031	c.305A>C	c.(304-306)gAg>gCg	p.E102A	SIDT1_ENST00000393830.3_Missense_Mutation_p.E102A	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	102						integral to membrane		p.E102A(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CAGCAGAAAGAGGTGCTGTCC	0.493000													4	182					0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27352658	27352658	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:27352658G>C	ENST00000316470.4	+	6	768	c.654G>C	c.(652-654)caG>caC	p.Q218H		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	218						integral to membrane	carboxylesterase activity	p.Q218H(1)		endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCAGGCAGGCTGCAGGGC	0.542000													23	104					0	0	1	0	0
ALKBH6	84964	broad.mit.edu	37	19	36501474	36501474	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:36501474C>T	ENST00000378875.3	-	6	537	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000485128.1_3'UTR|ALKBH6_ENST00000495116.2_5'UTR|ALKBH6_ENST00000252984.7_Missense_Mutation_p.E150K|ALKBH6_ENST00000486389.1_3'UTR	NM_032878.3|NM_198867.1	NP_116267.3|NP_942567.1	Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	150	Fe2OG dioxygenase.					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E178K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCACCTGTTCTGTAGGGTCA	0.622000													8	124					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956196	96956196	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:96956196G>A	ENST00000323853.5	-	20	2687	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	870	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.I870I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CATGAGATGTGATGAGTATGC	0.483000													14	173					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48738458	48738458	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:48738458C>G	ENST00000285238.8	+	8	1061	c.981C>G	c.(979-981)atC>atG	p.I327M	ABCC3_ENST00000427699.1_Missense_Mutation_p.I327M	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	327	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	p.I327M(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCTCCTTCATCAATCCACAGC	0.607000													3	79					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45459812	45459812	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr6:45459812C>T	ENST00000371438.1	+	5	1178	c.820C>T	c.(820-822)Cca>Tca	p.P274S	RUNX2_ENST00000371432.3_Missense_Mutation_p.P260S|RUNX2_ENST00000352853.5_Missense_Mutation_p.P342S|RUNX2_ENST00000576263.1_Missense_Mutation_p.P274S|RUNX2_ENST00000465038.2_Missense_Mutation_p.P274S|RUNX2_ENST00000541979.1_Missense_Mutation_p.P342S|RUNX2_ENST00000359524.5_Missense_Mutation_p.P260S|RUNX2_ENST00000371436.6_Missense_Mutation_p.P274S	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	274	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P274S(1)|p.P342S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAACTCTGCACCAAGTCCTTT	0.532000													4	134					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101755593	101755593	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:101755593A>T	ENST00000506729.1	-	8	1580	c.1409T>A	c.(1408-1410)gTg>gAg	p.V470E	SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V470E|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V408E			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	470						integral to membrane|plasma membrane	transporter activity	p.V470E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AATAATAAACACAAGCAGTAT	0.338000													13	68					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47274580	47274580	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr22:47274580C>G	ENST00000337137.4	+	5	835	c.669C>G	c.(667-669)atC>atG	p.I223M	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.I176M|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.I176M|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.I145M|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.I164M	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	223	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity	p.I223M(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTCCGGAATCCCTAAGCCAG	0.522000													6	152					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378190	113378190	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:113378190G>A	ENST00000316407.4	-	7	2749	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.S780L	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	780					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.S780L(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGTGTTCATTGAGGAAGTACT	0.423000													12	139					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357157	38357157	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr13:38357157C>G	ENST00000379705.3	-	2	1171	c.314G>C	c.(313-315)aGa>aCa	p.R105T	TRPC4_ENST00000379679.1_Missense_Mutation_p.R105T|TRPC4_ENST00000338947.5_Missense_Mutation_p.R105T|TRPC4_ENST00000426868.2_Missense_Mutation_p.R105T|TRPC4_ENST00000447043.1_Missense_Mutation_p.R105T|TRPC4_ENST00000355779.2_Missense_Mutation_p.R105T|TRPC4_ENST00000379673.2_Missense_Mutation_p.R105T|TRPC4_ENST00000379681.3_Missense_Mutation_p.R105T|TRPC4_ENST00000358477.2_Missense_Mutation_p.R105T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	105	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.R105T(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GACTTCTTTTCTGATAGCATG	0.368000													4	60					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120439041	120439041	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:120439041C>T	ENST00000424086.1	+	2	1085	c.612C>T	c.(610-612)ttC>ttT	p.F204F	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Silent_p.F204F|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Silent_p.F204F	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	204						integral to membrane		p.F204F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GGGCTGCCTTCAGCTTGGTGG	0.657000													4	64					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134003067	134003067	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr9:134003067C>T	ENST00000359428.5	+	2	346	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	NUP214_ENST00000411637.2_Missense_Mutation_p.L68F|NUP214_ENST00000451030.1_Missense_Mutation_p.L68F			P35658	NU214_HUMAN	nucleoporin 214kDa	68					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.L68F(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAAAAATCTTCTTATTCAAAA	0.448000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								5	138					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109680251	109680251	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:109680251C>A	ENST00000338432.7	+	37	5151	c.5032C>A	c.(5032-5034)Cac>Aac	p.H1678N	ACACB_ENST00000543201.1_Missense_Mutation_p.H344N|ACACB_ENST00000377848.3_Missense_Mutation_p.H1678N|ACACB_ENST00000377854.5_Missense_Mutation_p.H1608N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1678					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.H1678N(1)|p.H344N(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GATCATGTTTCACTCCTTCGG	0.517000													12	209					0.105934	0.110008	1	1	0
TMEM185A	84548	broad.mit.edu	37	X	148692995	148692995	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:148692995C>T	ENST00000316916.8	-	2	494	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	TMEM185A_ENST00000536359.1_Intron|TMEM185A_ENST00000507237.1_Missense_Mutation_p.V64I	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	64						integral to membrane		p.V64I(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CGTGCCCAGACTCCAGTTCCA	0.438000													6	598					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6424195	6424195	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:6424195G>A	ENST00000449001.2	+	3	717	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PLEKHG6_ENST00000396988.3_Missense_Mutation_p.E107K|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.E107K|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.E107K	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	107					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E107K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCATGAGCTGGAGGTGAGGCT	0.657000													12	167					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142255000	142255000	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:142255000C>G	ENST00000350721.4	-	20	3890	c.3769G>C	c.(3769-3771)Gat>Cat	p.D1257H	ATR_ENST00000383101.3_Missense_Mutation_p.D1193H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1257					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	p.D1257H(1)		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						TCTGGATGATCAGGTAAAAAA	0.269000								Other conserved DNA damage response genes					8	78					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57753340	57753340	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:57753340C>T	ENST00000274289.3	-	6	1084	c.784G>A	c.(784-786)Gac>Aac	p.D262N	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	262	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	p.D262N(1)		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)		GCCCAAATGTCTGATTCACAG	0.373000													8	66					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12905246	12905246	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:12905246C>A	ENST00000380659.3	+	3	1758	c.1619C>A	c.(1618-1620)cCt>cAt	p.P540H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	540					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.P540H(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GAATTCCAACCTTTAGCAGAG	0.398000													153	378					1.42561e-87	1.63794e-87	1	1	0
NOMO2	283820	broad.mit.edu	37	16	18555015	18555015	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr16:18555015G>C	ENST00000330537.6	-	7	829	c.659C>G	c.(658-660)tCt>tGt	p.S220C	NOMO2_ENST00000543392.1_Missense_Mutation_p.S53C|NOMO2_ENST00000381474.3_Missense_Mutation_p.S220C	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	220						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.S220C(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GACAGAGCCAGACACATTGTA	0.448000													4	43					0	0	1	0	0
SH2D1B	117157	broad.mit.edu	37	1	162381712	162381712	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:162381712T>C	ENST00000367929.2	-	1	204	c.95A>G	c.(94-96)gAc>gGc	p.D32G	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.D32G	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	32	SH2.							p.D32G(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGACTCGCTGTCTCTTAAAAG	0.507000													10	69					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639514	94639514	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:94639514G>C	ENST00000260526.6	-	23	3879	c.3697C>G	c.(3697-3699)Cct>Gct	p.P1233A		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1233					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.P1233A(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCACATCAGGCAAGCCAAGC	0.473000													14	214					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682517	100682517	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:100682517C>T	ENST00000306151.4	+	3	7884	c.7820C>T	c.(7819-7821)aCt>aTt	p.T2607I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2607	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T2607I(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTCACCACTTCTACTGAA	0.443000													74	404					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40701980	40701980	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:40701980A>G	ENST00000372771.4	+	8	1633	c.1606A>G	c.(1606-1608)Aga>Gga	p.R536G		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	536					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.R536G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TAAGGAGAAAAGAGACAAAAA	0.358000													3	138					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68812269	68812269	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr4:68812269C>T	ENST00000508048.1	-	2	64	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.R11Q|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.R11Q|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	11					cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R11Q(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATTTCTGCTTCGGGTGCCAAA	0.488000													5	55					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026184	176026184	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:176026184C>G	ENST00000303991.4	-	2	829	c.652G>C	c.(652-654)Gat>Cat	p.D218H		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	218						growth cone|plasma membrane		p.D218H(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACAAAGGATCTACTTTTCCC	0.517000													15	176					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945365	55945365	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:55945365G>C	ENST00000394256.2	+	1	383	c.355G>C	c.(355-357)Gat>Cat	p.D119H	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D119H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CATGTCTTATGATCGTTATGT	0.443000													6	201					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293407	33293407	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:33293407G>C	ENST00000280979.4	+	13	6558	c.6388G>C	c.(6388-6390)Gaa>Caa	p.E2130Q	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2130					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.E2130Q(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAATTACATAGAAGAGAAAAG	0.463000													10	108					0	0	1	0	0
PPWD1	23398	broad.mit.edu	37	5	64867882	64867882	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:64867882G>A	ENST00000261308.5	+	5	810	c.738G>A	c.(736-738)atG>atA	p.M246I	PPWD1_ENST00000535264.1_Missense_Mutation_p.M216I|PPWD1_ENST00000538977.1_Missense_Mutation_p.M90I	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	246					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.M246I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AATCTGGGATGATTGAATACT	0.378000													4	111					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39795229	39795229	+	Missense_Mutation	SNP	C	C	G	rs35351109		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr20:39795229C>G	ENST00000373272.2	+	18	2519	c.2114C>G	c.(2113-2115)tCt>tGt	p.S705C	PLCG1_ENST00000244007.3_Missense_Mutation_p.S705C|PLCG1_ENST00000373271.1_Missense_Mutation_p.S705C	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	705	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	p.S705C(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TATGCCATCTCTTTCCGGTGA	0.592000													7	131					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47362583	47362583	+	Splice_Site	SNP	T	T	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:47362583T>C	ENST00000399249.2	-	19	1952	c.1897_splice	c.e19-1	p.E633_splice	MYBPC3_ENST00000256993.4_Splice_Site_p.E632_splice|MYBPC3_ENST00000545968.1_Splice_Site_p.E633_splice			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	632					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.E633G(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AATCTTGACCTCTGCAAGAGA	0.637000													4	12					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95724744	95724744	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:95724744C>T	ENST00000524717.1	-	3	3567	c.2283G>A	c.(2281-2283)caG>caA	p.Q761Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	761					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGATCTGCCTCTGTAGAGTCT	0.453000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								5	195					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42457409	42457409	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr4:42457409G>C	ENST00000381668.5	-	29	2953	c.2722C>G	c.(2722-2724)Ctt>Gtt	p.L908V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.L893V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	908					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.L908V(1)|p.L893V(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AATATTCCAAGAGTTAAAGGA	0.403000													6	98					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214568247	214568247	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:214568247G>A	ENST00000366956.5	-	9	1035	c.841C>T	c.(841-843)Cac>Tac	p.H281Y	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	281	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.H281Y(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTTACCGTGTGAAAGAGGGCA	0.448000													8	190					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43870650	43870650	+	Translation_Start_Site	SNP	A	A	T	rs143130815	by1000genomes	TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr22:43870650A>T	ENST00000439548.1	+	0	180				MPPED1_ENST00000414469.2_Silent_p.A41A|MPPED1_ENST00000417669.1_Silent_p.A147A|MPPED1_ENST00000542779.1_Silent_p.A147A|MPPED1_ENST00000443721.1_Silent_p.A147A|MPPED1_ENST00000538182.1_Silent_p.A180A			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity	p.A147A(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TCGTGATCGCAGGCAACCACG	0.562000													4	143					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214568286	214568286	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:214568286G>A	ENST00000366956.5	-	9	996	c.802C>T	c.(802-804)Cta>Tta	p.L268L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	268	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.L268L(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGCTCCACTAGAATGGTCGAC	0.428000													12	234					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112230500	112230500	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:112230500G>A	ENST00000261733.2	+	9	1058	c.997G>A	c.(997-999)Gat>Aat	p.D333N	ALDH2_ENST00000416293.3_Missense_Mutation_p.D286N	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	333					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.D333N(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	GGACATCTATGATGAGTTTGT	0.632000			T	HMGA2	leiomyoma								3	22					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75082846	75082846	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:75082846C>A	ENST00000310715.3	-	10	1117	c.997G>T	c.(997-999)Gaa>Taa	p.E333*	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Nonsense_Mutation_p.E333*|TTC18_ENST00000394865.1_Nonsense_Mutation_p.E333*	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	333							binding	p.E333*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AGCTGAGCTTCTTCATCAGTC	0.403000													4	125					0.00909568	0.00972607	1	1	0
ENC1	8507	broad.mit.edu	37	5	73931322	73931322	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:73931322C>G	ENST00000302351.4	-	2	2119	c.989G>C	c.(988-990)aGa>aCa	p.R330T	ENC1_ENST00000510316.1_Missense_Mutation_p.R257T|ENC1_ENST00000537006.1_Missense_Mutation_p.R330T	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	330					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	p.R330T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		AAACTCTTTTCTTGGGCTGGG	0.478000													10	233					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272006	65272006	+	RNA	SNP	G	G	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:65272006G>T	ENST00000534336.1	+	0	6774					NR_002819.2																						GGAAATTTCTGCAGTTTTAAG	0.393000													3	53					0.150653	0.154223	1	1	0
SHOC2	8036	broad.mit.edu	37	10	112764399	112764399	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:112764399G>C	ENST00000369452.4	+	5	1353	c.1008G>C	c.(1006-1008)ttG>ttC	p.L336F	SHOC2_ENST00000265277.5_Missense_Mutation_p.L290F|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	336					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	p.L336F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TGAATAGTTTGACCTTAGCTA	0.338000													4	70					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140890710	140890710	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:140890710G>C	ENST00000252085.3	+	4	2911	c.2769G>C	c.(2767-2769)aaG>aaC	p.K923N	PCDHGA4_ENST00000571252.1_Missense_Mutation_p.K922N|PCDHGA8_ENST00000398604.2_Missense_Mutation_p.K923N|PCDHGA5_ENST00000518069.1_Missense_Mutation_p.K922N|PCDHGA2_ENST00000394576.2_Missense_Mutation_p.K923N|PCDHGA3_ENST00000253812.6_Missense_Mutation_p.K923N|PCDHGA1_ENST00000517417.1_Missense_Mutation_p.K922N|PCDHGB6_ENST00000520790.1_Missense_Mutation_p.K921N|PCDHGB2_ENST00000522605.1_Missense_Mutation_p.K922N|PCDHGA7_ENST00000518325.1_Missense_Mutation_p.K923N|PCDHGA6_ENST00000517434.1_Missense_Mutation_p.K923N|PCDHGB4_ENST00000519479.1_Missense_Mutation_p.K914N|PCDHGA9_ENST00000573521.1_Missense_Mutation_p.K923N|PCDHGA10_ENST00000398610.2_Missense_Mutation_p.K927N|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.K741N|PCDHGA11_ENST00000398587.2_Missense_Mutation_p.K926N|PCDHGB7_ENST00000398594.2_Missense_Mutation_p.K920N|PCDHGB3_ENST00000576222.1_Missense_Mutation_p.K920N|PCDHGB1_ENST00000523390.1_Missense_Mutation_p.K918N|PCDHGC3_ENST00000308177.3_Missense_Mutation_p.K925N|PCDHGC4_ENST00000306593.1_Missense_Mutation_p.K929N|PCDHGC5_ENST00000252087.1_Missense_Mutation_p.K935N	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.K923N(9)|p.K922N(7)|p.K920N(3)|p.K918N(2)|p.K925N(2)|p.K935N(2)|p.K914N(1)|p.K921N(1)|p.K927N(1)|p.K929N(1)|p.K926N(1)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCAACAAGAAGAAGTCGG	0.597000													8	97					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338652	122338652	+	Silent	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:122338652C>A	ENST00000340112.2	-	1	558	c.321G>T	c.(319-321)cgG>cgT	p.R107R	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	107	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.R107P(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TACAACCTCCCCGTTCAATAA	0.453000													22	247					1.10923e-09	1.22869e-09	1	1	0
C3orf38	285237	broad.mit.edu	37	3	88205273	88205273	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:88205273C>G	ENST00000318887.3	+	3	788	c.478C>G	c.(478-480)Cta>Gta	p.L160V	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	160					apoptosis			p.L158V(2)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GAATCCTTTTCTAGGACCACC	0.388000													4	90					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36190907	36190907	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:36190907C>T	ENST00000258840.6	-	16	2643	c.2253G>A	c.(2251-2253)cgG>cgA	p.R751R	RALGAPA1_ENST00000389698.3_Silent_p.R751R|RALGAPA1_ENST00000382366.3_Silent_p.R751R|RALGAPA1_ENST00000307138.6_Silent_p.R751R|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	751					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.R751R(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGTTTTTTGCCGTACTATAC	0.428000													4	205					0	0	1	0	0
GID4	79018	broad.mit.edu	37	17	17948480	17948480	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:17948480C>G	ENST00000268719.4	+	2	631	c.458C>G	c.(457-459)tCt>tGt	p.S153C	GID4_ENST00000376345.3_Missense_Mutation_p.S153C	NM_024052.4	NP_076957.3			GID complex subunit 4									p.S153C(1)									ACGGGGAACTCTTACCTTTGT	0.468000													6	68					0	0	1	0	0
SCRN3	79634	broad.mit.edu	37	2	175268854	175268854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:175268854C>T	ENST00000272732.6	+	5	647	c.565C>T	c.(565-567)Caa>Taa	p.Q189*	SCRN3_ENST00000409673.3_Nonsense_Mutation_p.Q182*	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	189					proteolysis		dipeptidase activity	p.Q182*(1)|p.Q189*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TATTTCTAATCAACTTTCCAT	0.368000													3	48					0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112724821	112724821	+	Splice_Site	SNP	T	T	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:112724821T>A	ENST00000369452.4	+	2	1048		c.e2+2		SHOC2_ENST00000265277.5_Splice_Site|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)						fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	p.?(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CTGAAATTGGTAAGAGGCCTT	0.328000													20	28					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101595922	101595922	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:101595922G>C	ENST00000310954.6	-	6	1409	c.1123C>G	c.(1123-1125)Cta>Gta	p.L375V		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	375					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.L375V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTTACCTTTAGAGCAGCTGGA	0.358000													3	15					0	0	1	0	0
PRG2	5553	broad.mit.edu	37	11	57156549	57156549	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:57156549G>A	ENST00000311862.5	-	3	373	c.300C>T	c.(298-300)ggC>ggT	p.G100G	PRG2_ENST00000525955.1_Silent_p.G100G|RP11-872D17.8_ENST00000529411.1_Silent_p.G205G|PRG2_ENST00000533605.1_Silent_p.G100G	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)									p.G100G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)		ACCCAGGGATGCCCACCACTT	0.542000													14	143					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76028674	76028674	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:76028674G>A	ENST00000319211.4	+	2	889	c.624G>A	c.(622-624)atG>atA	p.M208I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	208					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	p.M208I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TGTATCCCATGCAGTCCCTCT	0.542000													37	242					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28844383	28844383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr16:28844383C>T	ENST00000336783.4	+	14	1830	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.Q555*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.Q555*|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.Q555*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.Q555*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.Q555*|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.Q561*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	555						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTTCCAGCTTCAGCCCAGTAG	0.493000													6	280					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171511180	171511180	+	Silent	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:171511180A>G	ENST00000367742.3	+	16	4817	c.4575A>G	c.(4573-4575)acA>acG	p.T1525T	PRRC2C_ENST00000338920.4_Silent_p.T1523T|PRRC2C_ENST00000392078.3_Silent_p.T1525T|PRRC2C_ENST00000426496.2_Silent_p.T1523T			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1523							protein C-terminus binding	p.T1525T(2)									ATGCACAAACAGTTGTAAAGG	0.413000													8	78					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241958535	241958535	+	Silent	SNP	C	C	T	rs150522021		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:241958535C>T	ENST00000366552.2	+	25	3201	c.2994C>T	c.(2992-2994)ttC>ttT	p.F998F	WDR64_ENST00000437684.2_Silent_p.F831F	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	998								p.F551F(1)|p.F998F(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGGAAGGTTTCGTGACTGAAA	0.438000													4	160					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31602521	31602521	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:31602521C>T	ENST00000399332.1	-	24	4333	c.3845G>A	c.(3844-3846)aGa>aAa	p.R1282K	HECTD1_ENST00000553700.1_Missense_Mutation_p.R1282K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1282	MIB/HERC2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.R1282K(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATCCAGGCCTCTGATAACACG	0.502000													13	75					0	0	1	0	0
TTPA	7274	broad.mit.edu	37	8	63978592	63978592	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:63978592C>G	ENST00000260116.4	-	3	454	c.423G>C	c.(421-423)gaG>gaC	p.E141D	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	141	CRAL-TRIO.		E -> K (in AVED).		lipid metabolic process		transporter activity|vitamin E binding	p.E141D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GTACAATAAGCTCGGATGTGA	0.393000													28	36					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7889988	7889988	+	Missense_Mutation	SNP	C	C	A	rs57875989		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:7889988C>A	ENST00000377532.3	+	18	3205	c.2981C>A	c.(2980-2982)cCt>cAt	p.P994H	PER3_ENST00000361923.2_Missense_Mutation_p.P985H			P56645	PER3_HUMAN	period circadian clock 3	985	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.P985H(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCCCATCCTACTGCCAGC	0.567000													4	138					1	1	1	1	0
FZD4	8322	broad.mit.edu	37	11	86662507	86662507	+	Missense_Mutation	SNP	C	C	G	rs80358296		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:86662507C>G	ENST00000531380.1	-	2	1596	c.1291G>C	c.(1291-1293)Gaa>Caa	p.E431Q	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	431					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.E431Q(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCAGTCTTTCTAACTTGTCT	0.413000													3	299					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52645805	52645805	+	Silent	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr15:52645805G>C	ENST00000399231.3	-	27	3861	c.3618C>G	c.(3616-3618)ctC>ctG	p.L1206L	MYO5A_ENST00000553916.1_Silent_p.L1206L|MYO5A_ENST00000358212.6_Silent_p.L1206L|MYO5A_ENST00000356338.6_Silent_p.L1206L|MYO5A_ENST00000399233.2_Silent_p.L1206L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1206					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.L1206L(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCATTACCTTGAGTGACTCAT	0.368000													5	111					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661548	4661548	+	Silent	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:4661548C>G	ENST00000357605.2	+	1	604	c.528C>G	c.(526-528)ctC>ctG	p.L176L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L176L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTTCATCCTCAAGTGGTTGT	0.507000													19	282					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53785859	53785859	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:53785859C>G	ENST00000288139.3	+	29	3778	c.3660C>G	c.(3658-3660)taC>taG	p.Y1220*	CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.Y1200*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Y1200*|CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.Y107*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1200					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.Y1220*(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGTTCTGGTACGTGGTGAACT	0.493000													27	302					0	0	1	0	0
ACTRT3	84517	broad.mit.edu	37	3	169485492	169485492	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:169485492C>T	ENST00000330368.2	-	2	1221	c.847G>A	c.(847-849)Gat>Aat	p.D283N		NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN	actin-related protein T3	283						cytoplasm|cytoskeleton		p.D283N(1)									AGGCCTGTATCACATTTCATT	0.453000													15	248					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49068406	49068406	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:49068406C>T	ENST00000376265.2	-	35	4146	c.4085G>A	c.(4084-4086)cGa>cAa	p.R1362Q	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1351Q|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1297Q	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1362					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R1362Q(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTTGTTGTTTCGGTTTATCTG	0.552000													21	151					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143642955	143642955	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:143642955G>C	ENST00000264170.4	+	2	277	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	KYNU_ENST00000409512.1_Missense_Mutation_p.E7Q|KYNU_ENST00000410015.2_Missense_Mutation_p.E7Q|KYNU_ENST00000375773.2_Missense_Mutation_p.E7Q	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	7					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.E7Q(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TTCATCTCTTGAGCTGCCGGC	0.453000													7	47					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35802587	35802587	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr22:35802587C>T	ENST00000216122.4	+	5	619	c.465C>T	c.(463-465)atC>atT	p.I155I	CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Silent_p.I112I	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	155					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.I155I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CTGGCATCATCATCGCGGCCT	0.592000													5	66					0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66480332	66480332	+	Silent	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:66480332C>G	ENST00000256447.4	-	3	496	c.339G>C	c.(337-339)ctG>ctC	p.L113L		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	113					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	p.L113L(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CCATGAATATCAGGGGATTTC	0.393000													18	180					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058516	95058516	+	Silent	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr14:95058516C>A	ENST00000329597.7	+	6	1371	c.1161C>A	c.(1159-1161)ccC>ccA	p.P387P	SERPINA3_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Silent_p.P387P|SERPINA5_ENST00000553780.1_Silent_p.P387P|SERPINA5_ENST00000554866.1_Silent_p.P387P	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	387					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.P387P(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCAACAGGCCCTTTCTGATGT	0.557000													97	603					9.50263e-46	1.08601e-45	1	1	0
OR9Q2	219957	broad.mit.edu	37	11	57958704	57958704	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:57958704G>A	ENST00000311591.3	+	1	799	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCTCACTGCCGTCGCTCTTTT	0.577000													5	138					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3600724	3600724	+	Splice_Site	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:3600724G>A	ENST00000302006.3	+	3	1366	c.1312_splice	c.e3-1	p.E438_splice		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	438						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E438E(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCTCGCAGAGAGAGACCTCG	0.607000													4	228					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18048086	18048086	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:18048086A>G	ENST00000250018.2	-	6	1316	c.754T>C	c.(754-756)Tgc>Cgc	p.C252R	TPH1_ENST00000341556.2_Missense_Mutation_p.C252R	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	252					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.C252R(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TATTGAGTGCAGTGAAAAACT	0.408000													8	103					0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115273174	115273174	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:115273174C>T	ENST00000438362.2	-	11	1662	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	CSDE1_ENST00000369530.1_Silent_p.G397G|CSDE1_ENST00000358528.4_Silent_p.G382G|CSDE1_ENST00000339438.6_Silent_p.G351G|CSDE1_ENST00000261443.5_Silent_p.G351G|CSDE1_ENST00000534699.1_Silent_p.G382G|CSDE1_ENST00000530886.1_Silent_p.G252G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	382					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.G382G(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAGCTGGTTCCCATCCAGAA	0.418000													8	125					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83999118	83999118	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr16:83999118G>T	ENST00000343939.2	+	7	1572	c.1189G>T	c.(1189-1191)Gcc>Tcc	p.A397S	OSGIN1_ENST00000393306.1_Missense_Mutation_p.A314S|OSGIN1_ENST00000361711.3_Missense_Mutation_p.A314S			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	397					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	p.A397S(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGTGATCCATGCCTTCCGCCG	0.657000													3	40					1	1	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30936293	30936293	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:30936293G>A	ENST00000355537.3	+	2	1971	c.1824G>A	c.(1822-1824)ttG>ttA	p.L608L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L608L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGATTTTTTGTCACACGGGC	0.552000													22	166					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571730	155571730	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr3:155571730G>A	ENST00000392845.2	-	1	437	c.57C>T	c.(55-57)ttC>ttT	p.F19F	SLC33A1_ENST00000359479.3_Silent_p.F19F	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	19					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAGAGTGACTGAAATTCCCTG	0.617000													5	34					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153944516	153944516	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:153944516C>T	ENST00000369575.3	-	2	192	c.161G>A	c.(160-162)aGc>aAc	p.S54N	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S54N	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	54	PH.							p.S54N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATGGGCTTGCTGGAGTGCTT	0.562000													8	176					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941400	22941400	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:22941400G>A	ENST00000397104.3	-	5	1037	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	ZNF99_ENST00000596209.1_Silent_p.F437F					zinc finger protein 99									p.F346F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAAGGGCTGAGAAACGCTTAA	0.368000													6	46					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105796299	105796299	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:105796299C>T	ENST00000353479.5	-	48	3659	c.3369G>A	c.(3367-3369)ctG>ctA	p.L1123L	COL17A1_ENST00000369733.3_Silent_p.L1078L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1123	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.L1123L(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGTCCAAAGACAGGAGGGACC	0.597000													12	42					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51585290	51585290	+	Silent	SNP	T	T	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:51585290T>C	ENST00000452682.1	+	9	1689	c.1437T>C	c.(1435-1437)ccT>ccC	p.P479P	NCOA4_ENST00000430396.2_Silent_p.P363P|NCOA4_ENST00000414907.2_Silent_p.P297P|NCOA4_ENST00000344348.6_Silent_p.P463P|NCOA4_ENST00000374082.1_Silent_p.P463P|NCOA4_ENST00000374087.4_Silent_p.P463P|NCOA4_ENST00000443446.1_Silent_p.P463P|NCOA4_ENST00000438493.1_Silent_p.P479P	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	463					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.P479P(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GGCTCTGTCCTAGAAAAGAAG	0.428000			T	RET	papillary thyroid								3	260					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													4	48					0	0	1	0	0
NUP62CL	54830	broad.mit.edu	37	X	106391025	106391025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:106391025G>T	ENST00000372466.4	-	8	796	c.545C>A	c.(544-546)gCa>gAa	p.A182E	NUP62CL_ENST00000372461.3_3'UTR	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	182					protein transport	nuclear pore	structural constituent of nuclear pore	p.A182E(1)		lung(4)	4						TCAGAATTCTGCAGATCTGGT	0.358000													18	54					2.54575e-18	2.89411e-18	1	1	0
ASCL3	56676	broad.mit.edu	37	11	8959371	8959371	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:8959371T>G	ENST00000325884.1	-	2	397	c.338A>C	c.(337-339)tAc>tCc	p.Y113S	ASCL3_ENST00000531618.1_Missense_Mutation_p.Y113S	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	112	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	p.Y113S(1)		breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GAGCTGGGCGTAGCCTTCATT	0.527000													4	130					0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119660694	119660694	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:119660694C>G	ENST00000371322.5	-	20	2671	c.2610G>C	c.(2608-2610)aaG>aaC	p.K870N	CUL4B_ENST00000404115.3_Missense_Mutation_p.K888N|CUL4B_ENST00000336592.6_Missense_Mutation_p.K875N	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	888					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.K888N(1)|p.K870N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATTCTATTCTCTTCTTAAGAT	0.353000													3	126					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158587342	158587342	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:158587342C>A	ENST00000368148.3	-	47	6765	c.6585G>T	c.(6583-6585)caG>caT	p.Q2195H	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q2192H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2195					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q2195H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGCTTCCAGCTGAGATTCCA	0.343000													6	48					0.000157383	0.000169974	1	1	0
RNF152	220441	broad.mit.edu	37	18	59483267	59483267	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr18:59483267C>T	ENST00000312828.3	-	2	1529	c.430G>A	c.(430-432)Ggt>Agt	p.G144S		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	144					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.G144S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GGAGCCCCACCTTGCAGAGGC	0.672000													4	61					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61843460	61843460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:61843460C>A	ENST00000225726.5	-	2	458	c.76G>T	c.(76-78)Gag>Tag	p.E26*	CCDC47_ENST00000582252.1_Nonsense_Mutation_p.E26*|CCDC47_ENST00000403162.3_Nonsense_Mutation_p.E26*	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	26						integral to membrane	protein binding	p.E26*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TCCTCATCCTCAAAATCATCA	0.408000													18	225					1.01871e-10	1.14605e-10	1	1	0
TBC1D31	93594	broad.mit.edu	37	8	124089411	124089411	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:124089411G>C	ENST00000287380.1	+	2	228	c.138G>C	c.(136-138)ttG>ttC	p.L46F	TBC1D31_ENST00000522420.1_5'UTR|TBC1D31_ENST00000309336.3_Missense_Mutation_p.L46F|TBC1D31_ENST00000378080.2_5'UTR|TBC1D31_ENST00000521676.1_5'UTR|TBC1D31_ENST00000327098.5_Missense_Mutation_p.L46F	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.L46F(1)									TGCGATTTTTGAATGTGGCTT	0.373000													20	256					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911903	88911903	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:88911903A>C	ENST00000263321.5	+	1	1284	c.782A>C	c.(781-783)aAc>aCc	p.N261T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	261					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.N261T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ACAAATCCTAACTTACTCAGC	0.453000													16	99					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25284699	25284699	+	Silent	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr13:25284699G>C	ENST00000218548.6	+	20	3216	c.2883G>C	c.(2881-2883)cgG>cgC	p.R961R	ATP12A_ENST00000381946.3_Silent_p.R955R	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	955					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.R955R(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ggaaaACCCGGAGGAATTCCA	0.537000													16	138					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215851396	215851396	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:215851396C>T	ENST00000272895.7	-	28	4252	c.4033G>A	c.(4033-4035)Ggg>Agg	p.G1345R	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1027R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1345					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.G1345R(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGGCAACCCCGACTGTGAGA	0.433000													4	72					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	44					0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24200845	24200845	+	Splice_Site	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr13:24200845G>C	ENST00000382263.3	+	5	543		c.e5-1		TNFRSF19_ENST00000382258.4_Splice_Site|TNFRSF19_ENST00000248484.4_Splice_Site|TNFRSF19_ENST00000403372.2_Splice_Site	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19						apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	p.?(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TTCTCTTCTAGATTTTATAGG	0.428000													6	47					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31752254	31752254	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr6:31752254C>T	ENST00000375663.3	-	12	1933	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	VARS_ENST00000444930.2_Missense_Mutation_p.R203H	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	498					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.R498H(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GAGCAGGGTGCGACCTGTCAG	0.597000													4	201					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317488	31317488	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:31317488C>G	ENST00000265071.2	+	10	1784	c.1519C>G	c.(1519-1521)Cag>Gag	p.Q507E	CDH6_ENST00000514738.1_Missense_Mutation_p.Q452E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	507	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q507E(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTAGTTGATTCAGACCCTGCA	0.383000													9	87					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33722746	33722746	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr20:33722746T>A	ENST00000540582.1	-	10	1095	c.374A>T	c.(373-375)cAg>cTg	p.Q125L	EDEM2_ENST00000374492.3_Missense_Mutation_p.Q166L|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.2_Missense_Mutation_p.Q129L			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	166					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.Q166L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGTGGGGGTCTGAAAGGCTGA	0.532000													14	46					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19401370	19401370	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:19401370C>A	ENST00000375267.2	-	107	15574	c.15571G>T	c.(15571-15573)Gat>Tat	p.D5191Y	UBR4_ENST00000375254.3_Missense_Mutation_p.D5170Y|UBR4_ENST00000375217.2_Missense_Mutation_p.D5163Y|UBR4_ENST00000375226.2_Missense_Mutation_p.D5146Y|UBR4_ENST00000543981.1_Missense_Mutation_p.D834Y|UBR4_ENST00000375225.3_Missense_Mutation_p.D245Y|UBR4_ENST00000429347.2_Missense_Mutation_p.D693Y|UBR4_ENST00000375224.1_Missense_Mutation_p.D877Y|RP5-1126H10.2_ENST00000606379.1_RNA			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5170					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.D5170Y(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCTCTGGATCGGTGATTTCT	0.577000													6	43					0.0293803	0.0306577	1	1	0
MOCOS	55034	broad.mit.edu	37	18	33775270	33775270	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr18:33775270C>T	ENST00000261326.5	+	2	214	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	65					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.L65F(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CCAGAGCCAGCTCGAAAGCTT	0.393000													13	118					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057667	9057667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr19:9057667G>A	ENST00000397910.4	-	3	29982	c.29779C>T	c.(29779-29781)Cag>Tag	p.Q9927*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9929	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q9927*(1)|p.Q5560*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCGTGGACTGATCAGAGTCA	0.448000													10	287					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239170885	239170885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:239170885G>A	ENST00000254658.3	-	10	1383	c.1147C>T	c.(1147-1149)Caa>Taa	p.Q383*	PER2_ENST00000440245.1_Silent_p.I418I|PER2_ENST00000355768.2_Nonsense_Mutation_p.Q383*|PER2_ENST00000254657.3_Silent_p.I418I			O15055	PER2_HUMAN	period circadian clock 2	371	PAS 2.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.I418I(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCCATGGGTTGATGAAGCTGG	0.592000													5	94					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79168681	79168681	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:79168681A>G	ENST00000269392.4	-	17	2364	c.2117T>C	c.(2116-2118)gTc>gCc	p.V706A	AZI1_ENST00000450824.2_Missense_Mutation_p.V703A|AZI1_ENST00000374782.3_Missense_Mutation_p.V703A|AZI1_ENST00000575907.1_Missense_Mutation_p.V706A	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	706					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.V703A(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCGGACAGTGACCTCCTTGAT	0.552000													46	475					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53676597	53676597	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:53676597C>T	ENST00000371486.3	+	4	1766	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	417					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity	p.F417F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AACTCAACTTCGAGCTGACTG	0.483000													5	59					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44914530	44914530	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr15:44914530C>A	ENST00000261866.7	-	13	2348	c.2332G>T	c.(2332-2334)Gaa>Taa	p.E778*	SPG11_ENST00000427534.2_Nonsense_Mutation_p.E778*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.E778*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.E778*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	778					cell death	cytosol|integral to membrane|nucleus	protein binding	p.E778*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TAATTTTTTTCTTTTAAAATT	0.269000													3	37					1	1	1	1	0
GPRASP1	9737	broad.mit.edu	37	X	101909157	101909157	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:101909157T>A	ENST00000537097.1	+	6	1129	c.316T>A	c.(316-318)Tct>Act	p.S106T	GPRASP1_ENST00000415986.1_Missense_Mutation_p.S106T|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S106T|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.S106T	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	106						cytoplasm	protein binding	p.S106T(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGAAAGATTGTCTAAGACAGA	0.473000													105	282					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338653	122338653	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:122338653C>G	ENST00000340112.2	-	1	557	c.320G>C	c.(319-321)cGg>cCg	p.R107P	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	107	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.R107P(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ACAACCTCCCCGTTCAATAAG	0.453000													22	250					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105926410	105926410	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr10:105926410C>T	ENST00000357060.3	-	23	2990	c.2875G>A	c.(2875-2877)Gat>Aat	p.D959N	WDR96_ENST00000428666.1_Missense_Mutation_p.D960N	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	959								p.D959N(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTTCTTCATCATCCTCTTCA	0.398000													10	229					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93065408	93065408	+	Silent	SNP	G	G	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:93065408G>T	ENST00000359558.2	-	14	1406	c.1107C>A	c.(1105-1107)tcC>tcA	p.S369S	CALCR_ENST00000394441.1_Silent_p.S335S|CALCR_ENST00000426151.1_Silent_p.S335S|CALCR_ENST00000421592.1_Silent_p.S351S|CALCR_ENST00000360249.4_Silent_p.S351S	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	351					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.S335S(1)|p.S369S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GGTACATGTGGGATTCCGCCT	0.488000													4	79					0.014758	0.0155499	1	1	0
TLR8	51311	broad.mit.edu	37	X	12937571	12937571	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chrX:12937571C>T	ENST00000218032.6	+	2	499	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S	TLR8_ENST00000311912.5_Missense_Mutation_p.P156S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	138					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.P156S(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAACCAGTTACCCCAAATACC	0.388000													50	175					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183208591	183208591	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:183208591G>C	ENST00000264144.4	+	20	3027	c.2962G>C	c.(2962-2964)Gac>Cac	p.D988H	LAMC2_ENST00000493293.1_Missense_Mutation_p.D988H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	988	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.D988H(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGATGCCAGTGACAAGACCCA	0.537000													33	264					0	0	1	0	0
DCTN2	10540	broad.mit.edu	37	12	57927771	57927771	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:57927771G>A	ENST00000548249.1	-	7	901	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	DCTN2_ENST00000543672.1_Missense_Mutation_p.R217W|DCTN2_ENST00000537439.1_Missense_Mutation_p.R189W|DCTN2_ENST00000434715.3_Missense_Mutation_p.R217W	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	212					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	p.R217W(4)		endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TGCTCAGGCCGAGAATGTAGT	0.517000													10	114					0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683874	159683874	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:159683874G>A	ENST00000255030.5	-	2	219	c.116C>T	c.(115-117)tCc>tTc	p.S39F	CRP_ENST00000368110.1_Missense_Mutation_p.S39F|CRP_ENST00000437342.1_Intron|CRP_ENST00000368111.1_Missense_Mutation_p.S39F|CRP_ENST00000368112.1_Missense_Mutation_p.S39F|CRP_ENST00000343919.2_Missense_Mutation_p.S39F	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	39	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.S39F(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TGCTTTGAGGGATACATAGGA	0.473000													8	174					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9232408	9232408	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:9232408T>C	ENST00000318602.7	-	24	3165	c.2858A>G	c.(2857-2859)gAc>gGc	p.D953G	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	953					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.D953G(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCCTAATATGTCTCCTAGAGA	0.393000													5	29					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28712647	28712647	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr18:28712647G>A	ENST00000257197.3	-	14	2383	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L	DSC1_ENST00000257198.5_Silent_p.L708L|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	708					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.L708L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATGTAAACAGAATACCTAAA	0.303000													6	28					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19641686	19641686	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:19641686G>C	ENST00000457500.2	-	9	1626	c.1297C>G	c.(1297-1299)Ctg>Gtg	p.L433V	RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.L369V|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.L433V|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.L360V|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.L433V	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	433					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	p.L433V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TCATTCATCAGAGGCCTCACC	0.622000													39	213					0	0	1	0	0
CLDN15	24146	broad.mit.edu	37	7	100877591	100877591	+	Missense_Mutation	SNP	G	G	A	rs80277788		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:100877591G>A	ENST00000401528.1	-	3	1475	c.350C>T	c.(349-351)gCg>gTg	p.A117V	CLDN15_ENST00000308344.5_Missense_Mutation_p.A117V	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	117					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.A117V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					TGCGGTGGCCGCCAGCTTGGC	0.657000													46	110					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602619	138602619	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:138602619C>G	ENST00000440172.1	-	2	1801	c.1753G>C	c.(1753-1755)Gac>Cac	p.D585H	KIAA1549_ENST00000422774.1_Missense_Mutation_p.D585H|KIAA1549_ENST00000242365.4_Missense_Mutation_p.D535H	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	585	Ser-rich.					integral to membrane		p.D585H(1)|p.D535H(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACACTCGGGTCTCTGACGGCA	0.468000			O	BRAF	pilocytic astrocytoma								4	25					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27287917	27287917	+	Silent	SNP	G	G	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:27287917G>A	ENST00000397501.1	+	12	1459	c.651G>A	c.(649-651)caG>caA	p.Q217Q	PTK2B_ENST00000338238.4_Silent_p.Q217Q|PTK2B_ENST00000346049.5_Silent_p.Q217Q|PTK2B_ENST00000517339.1_Silent_p.Q217Q|PTK2B_ENST00000544172.1_Silent_p.Q217Q|PTK2B_ENST00000420218.2_Silent_p.Q217Q	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	217	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.Q217Q(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCCAAAGCAGATGCAGGAGA	0.552000													13	114					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102839186	102839186	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr4:102839186G>T	ENST00000504592.1	+	11	1419	c.1001G>T	c.(1000-1002)tGt>tTt	p.C334F	BANK1_ENST00000428908.1_Missense_Mutation_p.C216F|BANK1_ENST00000322953.4_Missense_Mutation_p.C349F|BANK1_ENST00000508653.1_Missense_Mutation_p.C216F|BANK1_ENST00000444316.2_Missense_Mutation_p.C319F			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	349					B cell activation			p.C349F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTTCTCCACTGTGCAGCAAAA	0.378000													22	62					1.55469e-16	1.75819e-16	1	1	0
ADAM15	8751	broad.mit.edu	37	1	155029447	155029447	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:155029447C>T	ENST00000356955.2	+	11	1119	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	ADAM15_ENST00000271836.6_Silent_p.L340L|ADAM15_ENST00000449910.2_Silent_p.L340L|ADAM15_ENST00000531455.1_Silent_p.L350L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Silent_p.L340L|ADAM15_ENST00000447332.3_Silent_p.L324L|ADAM15_ENST00000360674.4_Silent_p.L340L|ADAM15_ENST00000359280.4_Silent_p.L340L|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000355956.2_Silent_p.L340L	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	340	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.L340L(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CACCAGCATCCTGGGAGTCGC	0.627000													15	126					0	0	1	0	0
RRP8	23378	broad.mit.edu	37	11	6623441	6623441	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:6623441G>C	ENST00000254605.6	-	2	221	c.104C>G	c.(103-105)tCc>tGc	p.S35C	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	35					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	p.S35C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GCGGCGCTTGGAGCCCTGGAG	0.562000													7	156					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266743	48266743	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr11:48266743A>C	ENST00000302329.3	+	1	136	c.88A>C	c.(88-90)Att>Ctt	p.I30L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I30L(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTACACAGCAATTGTGCTGGG	0.448000													4	276					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114483059	114483059	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr1:114483059C>G	ENST00000369558.1	+	2	286	c.54C>G	c.(52-54)ttC>ttG	p.F18L	HIPK1_ENST00000369559.4_Missense_Mutation_p.F18L|HIPK1_ENST00000426820.2_Missense_Mutation_p.F18L|HIPK1_ENST00000369554.2_Missense_Mutation_p.F18L|HIPK1_ENST00000369555.2_Missense_Mutation_p.F18L|HIPK1_ENST00000369561.4_Missense_Mutation_p.F18L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.F18L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGTGCCTTCTGCAGTGCGA	0.463000													30	506					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36737460	36737460	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr22:36737460G>C	ENST00000216181.5	-	3	675	c.445C>G	c.(445-447)Cac>Gac	p.H149D	MYH9_ENST00000401701.1_Missense_Mutation_p.H149D	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	149	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.H149D(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCATAGATGTGAGGGGGCATC	0.522000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				10	162					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138200	126138200	+	Silent	SNP	C	C	T			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:126138200C>T	ENST00000299308.3	+	9	2189	c.2181C>T	c.(2179-2181)gtC>gtT	p.V727V	TMEM132B_ENST00000535886.1_Silent_p.V239V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	727						integral to membrane		p.V727V(1)		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)		CTGTTACTGTCTCATCATTGG	0.423000													61	166					0	0	1	0	0
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
UBA6	55236	broad.mit.edu	37	4	68484822	68484822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr4:68484822delC	ENST00000322244.4	-	33	3111	c.3052delG	c.(3052-3054)aafs	p.E1018fs		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	1018					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TATTTCTTTTCAGTAGTAGGT	0.338													10	112	---	---	---	---					
APC	324	broad.mit.edu	37	5	112175532	112175533	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr5:112175532_112175533insA	ENST00000457016.1	+	16	4621_4622	c.4241_4242insA	c.(4240-4242)gagfs	p.E1414fs	APC_ENST00000257430.4_Frame_Shift_Ins_p.E1414fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Ins_p.E1414fs			P25054	APC_HUMAN	adenomatous polyposis coli	1414	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1415fs*8(3)|p.V1414fs*5(2)|p.Y1376fs*41(1)|p.?(1)|p.S1411fs*41(1)|p.M1413fs*5(1)|p.P1409fs*6(1)|p.K1192fs*3(1)|p.S1415fs*4(1)|p.V1414fs*3(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGTGGAATGGTAAGTGGCATTA	0.470		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			13	82	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242480	55242503	+	In_Frame_Del	DEL	AACATCTCCGAAAGCCAACAAGGA	AACATCTCCGAAAGCCAACAAGGA	-	rs121913438		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr7:55242480_55242503delAACATCTCCGAAAGCCAACAAGGA	ENST00000275493.2	+	19	2427_2450	c.2250_2273delAACATCTCCGAAAGCCAACAAGGA	c.(2248-2274)gca>gc	p.ATSPKANKE750del	EGFR_ENST00000455089.1_In_Frame_Del_p.ATSPKANKE705del|EGFR_ENST00000454757.2_In_Frame_Del_p.ATSPKANKE697del|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	750	Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(358)|p.L747_P753>S(123)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.S752_I759del(13)|p.T751_I759>N(8)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.E746_T751>V(6)|p.E746_S752>A(6)|p.T751I(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.T751_I759>S(3)|p.L747_S752>Q(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.K754E(2)|p.L747_S752>QH(2)|p.T751_I759del(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.S752P(2)|p.L747_K754del(2)|p.P753P(2)|p.E746_P753>VS(2)|p.P753S(2)|p.L747_K754>ST(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.P753_I759del(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.A755A(1)|p.K754R(1)|p.E758G(1)|p.K757>NK(1)|p.K754K(1)|p.L747_T751>A(1)|p.K754I(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.K757R(1)|p.A750_E758del(1)|p.S752Y(1)|p.N756Y(1)|p.L747_A750>P(1)|p.K754A(1)|p.T751_I759>REA(1)|p.N756S(1)|p.E746_P753>LS(1)|p.T751_E758del(1)|p.K757M(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAAGAGAAGCAACATCTCCGAAAGCCAACAAGGAAATCCTCGAT	0.496	L747_P753>Q(HCC4006_LUNG)|P753S(SKMEL28_SKIN)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			31	145	---	---	---	---					
OSGIN2	734	broad.mit.edu	37	8	90937445	90937445	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr8:90937445delG	ENST00000451899.2	+	6	1595	c.1335delG	c.(1333-1335)aafs	p.K446fs	OSGIN2_ENST00000297438.2_Frame_Shift_Del_p.K402fs	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	402					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTGGATTGAAGAAAATATTTA	0.408													22	186	---	---	---	---					
ETV6	2120	broad.mit.edu	37	12	12037505	12037506	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr12:12037505_12037506delTG	ENST00000396373.4	+	6	1410_1411	c.1136_1137delTG	c.(1135-1137)cfs	p.L379fs		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	379						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTGGCTCGACTGTGGGGAAACC	0.460			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								9	157	---	---	---	---					
LOC145837	145837	broad.mit.edu	37	15	69788948	69788951	+	RNA	DEL	TTCC	TTCC	-	rs34449922		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr15:69788948_69788951delTTCC	ENST00000560882.1	+	0	278																											tcccttccctttccttccttcctt	0.328													7	1	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578397	7578412	+	Frame_Shift_Del	DEL	TGGGGGCAGCGCCTCA	TGGGGGCAGCGCCTCA	-	rs68130327		TCGA-05-4402-01A-01D-1265-08	TCGA-05-4402-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75475a84-582d-4949-a428-1e28ad526d8c	7ea934db-e2a4-4530-9a26-5912ac7d34a2	g.chr17:7578397_7578412delTGGGGGCAGCGCCTCA	ENST00000420246.2	-	5	650_665	c.518_533delTGAGGCGCTGCCCCCA	c.(517-534)gcfs	p.VRRCPH173fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.VRRCPH173fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VRRCPH173fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VRRCPH173fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VRRCPH173fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Del_p.VRRCPH173fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R175H(847)|p.C176F(129)|p.C176Y(63)|p.R43H(36)|p.R82H(36)|p.R175G(20)|p.H178fs*69(19)|p.R175C(19)|p.R175L(19)|p.C176S(18)|p.P177R(18)|p.P177L(17)|p.C176*(12)|p.V173A(12)|p.R174W(12)|p.C176W(11)|p.P177P(10)|p.C83F(9)|p.C44F(9)|p.C176R(8)|p.H178Y(8)|p.P177_C182delPHHERC(8)|p.P177S(8)|p.V173V(8)|p.0?(8)|p.H178D(7)|p.C176fs*71(7)|p.C176G(6)|p.H178fs*3(6)|p.H178P(6)|p.V173G(6)|p.R175P(6)|p.R175S(5)|p.R174fs*73(4)|p.R175R(4)|p.R174K(4)|p.C176_R181delCPHHER(3)|p.V173fs*7(3)|p.H178_S183delHHERCS(3)|p.C83Y(3)|p.H178N(3)|p.R82G(3)|p.P177H(3)|p.R43G(3)|p.R175_E180delRCPHHE(3)|p.R174fs*24(3)|p.C44Y(3)|p.C176fs*5(3)|p.C83*(2)|p.R174fs*1(2)|p.R175fs*5(2)|p.P177fs*3(2)|p.R174M(2)|p.R82C(2)|p.R43C(2)|p.H85fs*69(2)|p.H46fs*>45(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.C44*(2)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.R175_H178>X(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.C83G(1)|p.H178L(1)|p.R174fs*3(1)|p.R174fs*7(1)|p.V157_C176del20(1)|p.R81W(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.C176del(1)|p.H178del(1)|p.P177I(1)|p.P177T(1)|p.S149fs*72(1)|p.R174_H178>S(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.H179del(1)|p.V173E(1)|p.P177fs*69(1)|p.V173W(1)|p.R42fs*24(1)|p.R175fs*72(1)|p.R174_E180>K(1)|p.P177_E180delPHHE(1)|p.H85_S90delHHERCS(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.C176fs*68(1)|p.P151_V173del23(1)|p.V80fs*7(1)|p.H46D(1)|p.C44G(1)|p.H85D(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.R174G(1)|p.R42W(1)|p.R81fs*24(1)|p.V41fs*7(1)|p.H46_S51delHHERCS(1)|p.C176fs*6(1)|p.P84R(1)|p.P177_H179delPHH(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)		GCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGT	0.644	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			9	43	---	---	---	---					
