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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RUFY4	285180	broad.mit.edu	37	2	218940382	218940382	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:218940382G>A	uc010fvl.2	+	8	1685	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	RUFY4_uc002vgw.3_Silent_p.E216E	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	389							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTACCGTGGAGAATCCACAAG	0.592000														67			20		0	0	0.000958	0	0
KRT36	8689	broad.mit.edu	37	17	39646003	39646004	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:39646003_39646004CC>TT	uc002hwt.3	-	0	113_114	c.113_114GG>AA	c.(112-114)agg>aAA	p.R38K		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	38	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GACTGGGGACCCTGCAGGAGCC	0.624000														46			19		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9059329	9059329	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:9059329G>A	uc002mkp.3	-	2	28321	c.28117C>T	c.(28117-28119)Cct>Tct	p.P9373S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9375	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCCCAGAAGGACCTGTTTTG	0.507000														112			65		0	0	0.003610	0	0
TMEM2	23670	broad.mit.edu	37	9	74364964	74364964	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:74364964G>A	uc011lsa.1	-	1	866	c.326C>T	c.(325-327)cCa>cTa	p.P109L	TMEM2_uc010mos.2_Missense_Mutation_p.P109L|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	109						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTTACCATCTGGAGCATATTT	0.299000														25			15		0	0	0.006122	0	0
AGPAT3	56894	broad.mit.edu	37	21	45390563	45390563	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr21:45390563C>T	uc002zdx.3	+	6	1466	c.801C>T	c.(799-801)ttC>ttT	p.F267F	AGPAT3_uc002zdv.3_Silent_p.F180F|AGPAT3_uc002zdw.3_Silent_p.F180F|AGPAT3_uc002zdy.3_Silent_p.F118F	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	180					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GGACGCGCTTCACGGAGACCA	0.632000														36			24		0	0	0.003954	0	0
TNNI1	7135	broad.mit.edu	37	1	201379534	201379534	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:201379534C>T	uc021phe.1	-	6	486	c.486G>A	c.(484-486)agG>agA	p.R162R	TNNI1_uc021phd.1_Silent_p.R141R|TNNI1_uc001gwo.1_Non-coding_Transcript|TNNI1_uc001gwp.3_Silent_p.R141R	NM_003281	NP_003272	P19237	TNNI1_HUMAN	Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA.	162					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CCACGTTCTTCCTCCAGTCAC	0.587000														90			36		0	0	0.001706	0	0
IL36RN	26525	broad.mit.edu	37	2	113819797	113819797	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:113819797G>A	uc002tis.3	+	3	345	c.212G>A	c.(211-213)gGg>gAg	p.G71E	IL36RN_uc002tit.3_Missense_Mutation_p.G71E	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	71						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTGTCATGTGGGGTGGGGCAG	0.622000														70			40		0	0	0.002852	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74328483	74328483	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:74328483G>A	uc010wtb.1	-	3	236	c.15C>T	c.(13-15)atC>atT	p.I5I	PRPSAP1_uc010wta.1_Silent_p.I108I	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	79					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CGTAAGCCATGATGAGCAACT	0.453000														58			19		0	0	0.001216	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120348898	120348898	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:120348898C>T	uc001pxl.2	+	36	3901	c.3566C>T	c.(3565-3567)tCg>tTg	p.S1189L	ARHGEF12_uc009zat.3_Missense_Mutation_p.S1170L|ARHGEF12_uc009zau.1_Missense_Mutation_p.S1086L	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1189					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|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			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)		ACCTTAATATCGTCAAAACCT	0.373000			T	MLL	AML									14			14		0	0	0.001855	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004526	101004527	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr14:101004526_101004527CC>TT	uc010txa.2	-	5	1707_1708	c.1561_1562GG>AA	c.(1561-1563)ggg>AAg	p.G521K	BEGAIN_uc001yhp.3_Missense_Mutation_p.G457K|BEGAIN_uc001yhq.3_Missense_Mutation_p.G521K	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	521						cytoplasm|membrane	protein binding	p.D520D(1)|p.D520fs*57(1)		cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GAGCCTGTCCCCGTCCCCCCCC	0.738000														4			14		0	0	0.004672	0	0
RBFOX1	54715	broad.mit.edu	37	16	7629881	7629881	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:7629881C>T	uc002cys.2	+	5	1361	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	RBFOX1_uc010buf.1_Missense_Mutation_p.P125S|RBFOX1_uc002cyr.1_Missense_Mutation_p.P124S|RBFOX1_uc002cyt.2_Missense_Mutation_p.P125S|RBFOX1_uc010uxz.1_Missense_Mutation_p.P168S|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Missense_Mutation_p.P125S|RBFOX1_uc010uyb.1_Missense_Mutation_p.P125S|RBFOX1_uc002cyw.2_Missense_Mutation_p.P145S|RBFOX1_uc002cyy.2_Missense_Mutation_p.P145S|RBFOX1_uc002cyx.2_Missense_Mutation_p.P145S|RBFOX1_uc010uyc.1_Missense_Mutation_p.P145S	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	125	RRM.				RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CTCCAATATCCCCTTCAGGTT	0.557000														43			23		0	0	0.001882	0	0
CSF2RB	1439	broad.mit.edu	37	22	37325823	37325823	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:37325823C>T	uc003aqa.4	+	5	909	c.692C>T	c.(691-693)cCa>cTa	p.P231L	CSF2RB_uc003aqc.4_Missense_Mutation_p.P231L	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	231	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AAGTGGAGCCCAGAGGTTTGC	0.662000														32			11		0	0	0.001368	0	0
D21847	0	broad.mit.edu	37	14	22090560	22090560	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr14:22090560G>A	uc001wbi.2	+	1	212	c.199G>A	c.(199-201)Gat>Aat	p.D67N						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		CCAGCAACATGATGGCGGAGC	0.483000														43			75		0	0	0.003610	0	0
FCGBP	8857	broad.mit.edu	37	19	40408565	40408566	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:40408565_40408566TC>AT	uc002omp.4	-	7	4281_4282	c.4273_4274GA>AT	c.(4273-4275)gac>ATc	p.D1425I		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1425	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGGGAGAGTCGGGCACCACC	0.624000														56			23		0	0	0.004672	0	0
EPB41L3	23136	broad.mit.edu	37	18	5410589	5410589	+	Silent	SNP	G	A	A	rs140128908		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr18:5410589G>A	uc002kmt.1	-	13	2183	c.2097C>T	c.(2095-2097)gcC>gcT	p.A699A	EPB41L3_uc010wzh.1_Silent_p.A530A|EPB41L3_uc002kmu.1_Silent_p.A530A|EPB41L3_uc010dkq.1_Silent_p.A421A|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Silent_p.A91A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	699	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTCCCCGTCGGCTGCGGTGT	0.532000														30			24		0	0	0.005443	0	0
LPL	4023	broad.mit.edu	37	8	19805790	19805791	+	Missense_Mutation	DNP	CC	TT	TT	rs114726797	by1000genomes	TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:19805790_19805791CC>TT	uc003wzk.4	+	1	558_559	c.188_189CC>TT	c.(187-189)tcc>tTT	p.S63F		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	63					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GTAGCAGAGTCCGTGGCTACCT	0.505000														15			87		0	0	0.004672	0	0
AHCTF1	25909	broad.mit.edu	37	1	247079503	247079503	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:247079503G>A	uc001ibv.2	-	2	440	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F		NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	106	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TAAAGACAGAGAACACTCCCT	0.378000														35			15		0	0	0.001216	0	0
TLR8	51311	broad.mit.edu	37	X	12938041	12938041	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chrX:12938041C>T	uc004cvd.3	+	2	1106	c.936C>T	c.(934-936)ctC>ctT	p.L312L	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Silent_p.L294L	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	294					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|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			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						ACCTAAACCTCTCTAGCACTT	0.408000														9			47		0	0	0.003610	0	0
BTN1A1	696	broad.mit.edu	37	6	26505398	26505398	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:26505398C>T	uc003nif.4	+	2	730	c.673C>T	c.(673-675)Ctt>Ttt	p.L225F		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	225	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GAATCTCCTTCTTGGCCAGGA	0.468000														77			50		0	0	0.003610	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30925751	30925751	+	Missense_Mutation	SNP	C	T	T	rs143705474	byFrequency	TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:30925751C>T	uc001zet.1	+	2	404	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	ARHGAP11B_uc010azv.1_Non-coding_Transcript|ARHGAP11B_uc001zeu.3_Non-coding_Transcript	NM_001039841	NP_001034930	Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.	87	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		AGGGCTTTTTCGGAAATCAGG	0.358000														24			25		0	0	0.001512	0	0
PID1	55022	broad.mit.edu	37	2	229890444	229890444	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:229890444G>A	uc002vpr.4	-	2	695	c.657C>T	c.(655-657)ttC>ttT	p.F219F	PID1_uc002vps.4_Silent_p.F217F|PID1_uc002vpt.4_Silent_p.F186F|PID1_uc002vpu.4_Silent_p.F137F	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	219	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AAGTCTTCCTGAAGGCCTCCA	0.552000														59			57		0	0	0.003610	0	0
AKAP11	11215	broad.mit.edu	37	13	42891698	42891698	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr13:42891698G>A	uc001uys.2	+	11	5614	c.5439G>A	c.(5437-5439)acG>acA	p.T1813T		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1813					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGCTAATTACGAATATTGACA	0.383000														15			67		0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219892939	219892939	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:219892939A>G	uc002vjl.1	-	11	1919	c.1835T>C	c.(1834-1836)cTc>cCc	p.L612P	CCDC108_uc010fwa.1_Missense_Mutation_p.L55P|CCDC108_uc010zkp.1_Missense_Mutation_p.L601P|CCDC108_uc010zkq.1_Missense_Mutation_p.L547P	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	612						integral to membrane	structural molecule activity	p.A611T(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAATCATGAGAGCCCCGTT	0.597000														21			11		0	0	0.000673	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800994	185800994	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:185800994G>C	uc002uph.3	+	3	1465	c.871G>C	c.(871-873)Gtt>Ctt	p.V291L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	291						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAAAGAAACTGTTCAAACTCA	0.353000														18			8		0	0	0.004482	0	0
TLE2	7089	broad.mit.edu	37	19	3009582	3009582	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:3009582G>A	uc010dth.3	-	12	1397	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	TLE2_uc010xhb.2_Intron|TLE2_uc002lww.3_Silent_p.S377S|TLE2_uc010xhc.2_Silent_p.S255S|TLE2_uc010dti.3_Silent_p.S391S|TLE2_uc010xhd.1_Silent_p.S285S	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	377	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		TGACCTGGGGGGACAGGTGGA	0.682000														31			20		0	0	0.002299	0	0
COL27A1	85301	broad.mit.edu	37	9	117029817	117029817	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:117029817C>T	uc011lxl.2	+	33	3481	c.3481C>T	c.(3481-3483)Cct>Tct	p.P1161S	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1161	Collagen-like 9.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACCGGGCCTTCCTGGGGAAGC	0.562000														61			37		0	0	0.001706	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919961	51919961	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:51919961T>C	uc002pwo.3	-	2	887	c.665A>G	c.(664-666)aAg>aGg	p.K222R	SIGLEC10_uc002pwp.3_Missense_Mutation_p.K164R|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Missense_Mutation_p.K164R|SIGLEC10_uc010ycz.2_Missense_Mutation_p.K174R|SIGLEC10_uc002pws.2_Missense_Mutation_p.K164R|SIGLEC10_uc002pwr.3_Missense_Mutation_p.K222R|SIGLEC10_uc010ycy.2_Missense_Mutation_p.K222R|SIGLEC10_uc010eow.3_5'UTR|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	222	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCTCACACCCTTTCTGGAGAA	0.637000														47			31		0	0	0.002445	0	0
PDE1C	5137	broad.mit.edu	37	7	31864516	31864516	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:31864516G>A	uc003tcm.2	-	12	1832	c.1371C>T	c.(1369-1371)acC>acT	p.T457T	PDE1C_uc003tcn.1_Silent_p.T457T|PDE1C_uc003tco.2_Silent_p.T517T|PDE1C_uc003tcr.3_Silent_p.T457T|PDE1C_uc003tcs.3_Silent_p.T457T	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	457	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CAGTTTGAGAGGTTTCATCGA	0.493000														86			93		0	0	0.003610	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-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)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				109			65		7.75977e-34	1.50877e-33	0.003610	1	0
TOP2B	7155	broad.mit.edu	37	3	25675377	25675377	+	Silent	SNP	T	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:25675377T>C	uc011awn.1	-	7	1024	c.981A>G	c.(979-981)aaA>aaG	p.K327K	TOP2B_uc003cdj.2_Silent_p.K322K|TOP2B_uc021wug.1_Silent_p.K322K	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	327					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GCTGGAATCCTTTTTCACTCA	0.348000														67			3		0	0	0.004672	0	0
TNNT3	7140	broad.mit.edu	37	11	1955641	1955641	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:1955641C>T	uc001luu.4	+	11	658	c.446C>T	c.(445-447)tCc>tTc	p.S149F	TNNT3_uc001lun.2_Missense_Mutation_p.S45F|TNNT3_uc001luw.4_Missense_Mutation_p.S141F|TNNT3_uc001luo.4_Missense_Mutation_p.S141F|TNNT3_uc001lup.4_Missense_Mutation_p.S147F|TNNT3_uc001luq.4_Missense_Mutation_p.S141F|TNNT3_uc001lur.3_Missense_Mutation_p.S141F|TNNT3_uc010qxf.2_Missense_Mutation_p.S147F|TNNT3_uc010qxg.2_Missense_Mutation_p.S81F	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	160				E -> G (in Ref. 5; CAE45814).	muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		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;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GCTCTGTCTTCCATGGGAGCC	0.597000														13			15		0	0	0.004007	0	0
UNC13C	440279	broad.mit.edu	37	15	54305645	54305645	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:54305645G>A	uc021smr.1	+	0	545	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	UNC13C_uc021sms.1_Missense_Mutation_p.R182Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	182					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R182Q(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAGCTTTACGAAAACTGAGA	0.458000														29			72		0	0	0.003610	0	0
CASS4	57091	broad.mit.edu	37	20	55028076	55028076	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:55028076C>T	uc002xxp.2	+	5	2069	c.1844C>T	c.(1843-1845)cCc>cTc	p.P615L	CASS4_uc002xxq.4_Missense_Mutation_p.P615L|CASS4_uc010zze.1_Missense_Mutation_p.P561L|CASS4_uc002xxr.2_Missense_Mutation_p.P615L|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	615					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ATCCAGCCTCCCCAAAGAGAA	0.413000														33			17		0	0	0.004990	0	0
ATP13A4	84239	broad.mit.edu	37	3	193132506	193132506	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:193132506G>A	uc003ftd.3	-	25	2984	c.2876C>T	c.(2875-2877)cCt>cTt	p.P959L	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	959					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGGTCTGAAAGGCACCAGCTT	0.428000														32			13		0	0	0.001855	0	0
SALL3	27164	broad.mit.edu	37	18	76754898	76754898	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr18:76754898G>A	uc002lmt.3	+	1	2907	c.2907G>A	c.(2905-2907)agG>agA	p.R969R	SALL3_uc010dra.3_Silent_p.R576R	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	969					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R969T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCTGAGCAGGGAGCGGGGTA	0.662000														14			13		0	0	0.001368	0	0
IL22RA1	58985	broad.mit.edu	37	1	24454650	24454650	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:24454650G>A	uc001biq.2	-	4	854	c.651C>T	c.(649-651)tgC>tgT	p.C217C	IL22RA1_uc010oeg.1_Silent_p.C109C|IL22RA1_uc009vrb.2_Silent_p.C81C|IL22RA1_uc010oeh.2_Silent_p.C217C	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	217	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCTTCACTCGGCACATGTAGG	0.547000														39			21		0	0	0.001882	0	0
CDH4	1002	broad.mit.edu	37	20	60498611	60498611	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:60498611G>A	uc002ybn.2	+	9	1565	c.1477G>A	c.(1477-1479)Ggg>Agg	p.G493R	CDH4_uc002ybr.2_Missense_Mutation_p.G456R|CDH4_uc002ybp.2_Missense_Mutation_p.G419R	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	493	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTCCACGGCAGGGGTGACCAT	0.607000														27			13		0	0	0.001855	0	0
FOXK2	3607	broad.mit.edu	37	17	80545020	80545020	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:80545020C>T	uc002kfn.3	+	7	1829	c.1658C>T	c.(1657-1659)cCg>cTg	p.P553L	FOXK2_uc002kfm.1_Missense_Mutation_p.P553L|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	553					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CAGACCACCCCGGTCCAGACG	0.532000														52			52		0	0	0.003610	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526434	97526434	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:97526434C>T	uc002sxg.4	-	12	2821	c.2590G>A	c.(2590-2592)Gat>Aat	p.D864N	ANKRD39_uc002sxd.4_5'Flank|SEMA4C_uc002sxf.4_Missense_Mutation_p.D311N|SEMA4C_uc002sxe.3_Missense_Mutation_p.D352N|SEMA4C_uc002sxh.4_Missense_Mutation_p.D811N	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	811					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CTCAGTTCATCCGCGAGCTCA	0.652000														71			58		0	0	0.003610	0	0
FAM46D	169966	broad.mit.edu	37	X	79698282	79698282	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chrX:79698282G>A	uc022bzm.1	+	0	244	c.244G>A	c.(244-246)Gat>Aat	p.D82N	FAM46D_uc004edl.1_Missense_Mutation_p.D82N|FAM46D_uc004edm.2_Missense_Mutation_p.D82N	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	82										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CAGCTATAAGGATCTGGACGT	0.383000														3			11		0	0	0.000978	0	0
MYH11	4629	broad.mit.edu	37	16	15831308	15831308	+	Silent	SNP	G	A	A	rs147605116		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:15831308G>A	uc002ddx.3	-	25	3419	c.3312C>T	c.(3310-3312)gcC>gcT	p.A1104A	MYH11_uc002ddv.3_Silent_p.A1104A|MYH11_uc002ddw.3_Silent_p.A1097A|MYH11_uc002ddy.3_Silent_p.A1097A|MYH11_uc010bvg.3_Silent_p.A929A	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1097			A -> T (in dbSNP:rs34263860).		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCCGCTACCTGGCCAGGGCCG	0.637000			T	CBFB	AML									35			27		0	0	0.004656	0	0
NBEA	26960	broad.mit.edu	37	13	36046603	36046604	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr13:36046603_36046604CC>TT	uc021rid.1	+	40	7049_7050	c.6515_6516CC>TT	c.(6514-6516)tcc>tTT	p.S2172F	NBEA_uc021ric.1_Missense_Mutation_p.S2169F|NBEA_uc010abi.3_Missense_Mutation_p.S828F|NBEA_uc010tee.1_5'UTR	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2172						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGGACTCTCTCCATCACCACGA	0.540000														22			95		0	0	0.004672	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182233	57182233	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:57182233C>T	uc003hbk.2	+	7	2956	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	KIAA1211_uc010iha.2_Silent_p.S848S|KIAA1211_uc011bzz.1_Silent_p.S765S|KIAA1211_uc003hbm.1_Silent_p.S741S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	855										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCAACTATTCCTTGCGCTTCA	0.562000														34			26		0	0	0.003330	0	0
CD226	10666	broad.mit.edu	37	18	67563239	67563239	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr18:67563239G>A	uc010dqo.3	-	2	872	c.425C>T	c.(424-426)tCg>tTg	p.S142L	CD226_uc002lkm.4_Missense_Mutation_p.S142L|CD226_uc021uli.1_5'UTR	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	142	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TCCAGGTTCCGAAACAATGTG	0.478000														36			36		0	0	0.001951	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645328	122645328	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:122645328C>T	uc003efz.1	-	8	1351	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P	SEMA5B_uc011bju.1_Silent_p.P291P|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.P349P|SEMA5B_uc010hro.1_Silent_p.P291P|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	349	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGACCTCGCCCGGGCGGGAGC	0.602000														22			8		0	0	0.000443	0	0
FCAR	2204	broad.mit.edu	37	19	55399609	55399609	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:55399609G>C	uc002qhr.1	+	3	794	c.597G>C	c.(595-597)agG>agC	p.R199S	FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.R199S|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Missense_Mutation_p.R187S|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Missense_Mutation_p.R90S	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	199	Ig-like C2-type 2.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GGTACAACAGGAGCCCCTACC	0.587000														20			7		0	0	0.001984	0	0
MYH2	4620	broad.mit.edu	37	17	10428264	10428264	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:10428264C>T	uc010coi.3	-	33	4909	c.4781G>A	c.(4780-4782)aGa>aAa	p.R1594K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1594K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1594					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AATGTGGTTTCTCTTCAGCTG	0.468000														96			45		0	0	0.002852	0	0
SMAD3	4088	broad.mit.edu	37	15	67473595	67473595	+	Silent	SNP	C	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:67473595C>G	uc002aqj.3	+	5	973	c.675C>G	c.(673-675)acC>acG	p.T225T	SMAD3_uc010ujr.2_Silent_p.T120T|SMAD3_uc010ujs.2_Silent_p.T181T|SMAD3_uc010ujt.2_Silent_p.T30T	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	225	Linker.				SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		AGCCAGTTACCTACTGCGAGC	0.607000														33			6		0	0	0.001984	0	0
RIMS1	22999	broad.mit.edu	37	6	72892167	72892167	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:72892167G>A	uc003pga.3	+	5	1070	c.993G>A	c.(991-993)ccG>ccA	p.P331P	RIMS1_uc011dyb.2_5'UTR|RIMS1_uc003pgc.3_5'UTR|RIMS1_uc003pgb.4_5'UTR	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	331					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGACACGCCGGAAAAACGGG	0.587000														17			16		0	0	0.004990	0	0
KRT17	3872	broad.mit.edu	37	17	39777916	39777916	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:39777916C>T	uc002hxh.2	-	3	884	c.763G>A	c.(763-765)Gag>Aag	p.E255K	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	255	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TCACGCATCTCGTTGAGGATG	0.587000														46			23		0	0	0.003954	0	0
AGTR2	186	broad.mit.edu	37	X	115303742	115303742	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chrX:115303742G>A	uc022cdd.1	+	0	209	c.209G>A	c.(208-210)tGt>tAt	p.C70Y	AGTR2_uc004eqh.4_Missense_Mutation_p.C70Y	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	70					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						ACACTGTTTTGTTGTCAAAAG	0.368000														35			28		0	0	0.005443	0	0
PPT2	9374	broad.mit.edu	37	6	32123681	32123681	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:32123681C>A	uc003nzw.3	+	4	660	c.485C>A	c.(484-486)tCc>tAc	p.S162Y	PRRT1_uc003nzu.3_5'Flank|PRRT1_uc021yvi.1_5'Flank|PRRT1_uc021yvj.1_5'Flank|PRRT1_uc003nzv.3_5'Flank|PRRT1_uc021yvk.1_5'Flank|PPT2_uc003nzx.3_Missense_Mutation_p.S156Y|PPT2_uc003nzz.3_Missense_Mutation_p.S156Y|PPT2_uc021yvl.1_Missense_Mutation_p.S33Y|EGFL8_uc003nzy.2_Non-coding_Transcript|PPT2_uc010jtu.1_Missense_Mutation_p.S156Y	NM_138717	NP_005146	Q9UMR5	PPT2_HUMAN	Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 2, mRNA.	156					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TTCCCCACCTCCATGCGGTCT	0.532000														405			184		4.24805e-90	8.28945e-90	0.003610	1	0
BV13S6J2.1	0	broad.mit.edu	37	7	142161996	142161996	+	Silent	SNP	G	A	A	rs55663062		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:142161996G>A	uc011krx.2	-	1	294	c.279C>T	c.(277-279)ttC>ttT	p.F93F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Silent_p.F93F					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		GCCTGAGCGGGAAATACTCTG	0.502000														170			170		0	0	0.003610	0	0
DEFB110	245913	broad.mit.edu	37	6	49986740	49986740	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:49986740T>A	uc003pac.3	-	1	200	c.154A>T	c.(154-156)Agg>Tgg	p.R52W	DEFB110_uc011dwr.2_Intron	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 1, mRNA.	52					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TAAGCAATCCTAATTTCATTT	0.408000														22			6		0	0	0.001984	0	0
EPHA3	2042	broad.mit.edu	37	3	89259255	89259255	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:89259255G>A	uc003dqy.3	+	2	624	c.399G>A	c.(397-399)gtG>gtA	p.V133V	EPHA3_uc003dqx.1_Silent_p.V133V|EPHA3_uc021xbf.1_Silent_p.V133V	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	133						extracellular region|integral to plasma membrane	ATP binding	p.V133L(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATCATGGGGTGAAATTTCGAG	0.423000										TSP Lung(6;0.00050)				35			16		0	0	0.003163	0	0
OR10W1	81341	broad.mit.edu	37	11	58034453	58034453	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:58034453C>T	uc001nmq.1	-	0	1280	c.878G>A	c.(877-879)gGg>gAg	p.G293E		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AAGAACTCTCCCTACGGCCCC	0.507000														34			48		0	0	0.003610	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22237058	22237058	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr14:22237058G>A	uc001wbt.1	+	1	142	c.135G>A	c.(133-135)caG>caA	p.Q45Q	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		AGATAGAACAGAATTCCGAGG	0.473000														5			14		0	0	0.004007	0	0
SLC26A9	115019	broad.mit.edu	37	1	205890930	205890930	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:205890930G>A	uc001hdp.3	-	16	1933	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	SLC26A9_uc001hdo.3_Missense_Mutation_p.P275S|SLC26A9_uc001hdq.3_Missense_Mutation_p.P607S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	607	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGGTCGGTGGGGGGCGCATTC	0.622000														23			10		0	0	0.000978	0	0
SALL3	27164	broad.mit.edu	37	18	76752273	76752273	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr18:76752273C>T	uc002lmt.3	+	1	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGAGGACTTCCCCGAGCCTT	0.761000														15			11		0	0	0.002450	0	0
BCAS2	10286	broad.mit.edu	37	1	115123994	115123994	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:115123994C>T	uc001efa.3	-	1	165	c.112G>A	c.(112-114)Gag>Aag	p.E38K	DENND2C_uc001eez.3_Non-coding_Transcript	NM_005872	NP_005863	O75934	SPF27_HUMAN	Homo sapiens breast carcinoma amplified sequence 2 (BCAS2), mRNA.	38					RNA splicing, via transesterification reactions|mRNA processing	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-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)		CGAGTTTCCTCCTCCACCAGC	0.493000														136			93		0	0	0.003610	0	0
PAPPA	5069	broad.mit.edu	37	9	118974049	118974049	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:118974049C>T	uc004bjn.3	+	3	2137	c.1756C>T	c.(1756-1758)Ccc>Tcc	p.P586S	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	586					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGCAGTGACCCCTGCATGGA	0.567000														88			68		0	0	0.003610	0	0
SCD	6319	broad.mit.edu	37	10	102107992	102107993	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:102107992_102107993CC>TT	uc001kqy.3	+	1	689_690	c.199_200CC>TT	c.(199-201)ccc>TTc	p.P67F		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	67					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		AGGCCCAAGCCCCAAGGTTGAA	0.460000														115			61		0	0	0.004672	0	0
OR1M1	125963	broad.mit.edu	37	19	9204840	9204840	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:9204840G>A	uc010xkj.2	+	0	920	c.920G>A	c.(919-921)aGa>aAa	p.R307K		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTGGTCAACAGAAAGATCACC	0.502000														23			17		0	0	0.006122	0	0
DLC1	10395	broad.mit.edu	37	8	12958028	12958028	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:12958028G>A	uc003wwm.2	-	8	2262	c.1818C>T	c.(1816-1818)caC>caT	p.H606H	DLC1_uc003wwk.1_Silent_p.H169H|DLC1_uc003wwl.1_Silent_p.H203H|DLC1_uc011kxx.1_Silent_p.H95H	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	606					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGGGGGGCGCGTGGCTGGGGA	0.677000														135			72		0	0	0.003610	0	0
KLHL36	79786	broad.mit.edu	37	16	84691408	84691408	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:84691408C>T	uc002fig.3	+	2	1136	c.995C>T	c.(994-996)cCc>cTc	p.P332L	KLHL36_uc010chl.3_Missense_Mutation_p.P331L	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	332										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACGCCGCTGCCCGCCCGGCGG	0.667000														10			13		0	0	0.001368	0	0
C1orf94	84970	broad.mit.edu	37	1	34663513	34663513	+	Splice_Site	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:34663513G>A	uc001bxt.3	+	2	1847	c.1009_splice	c.e2+1	p.E337_splice	C1orf94_uc001bxs.4_Splice_Site_p.E147_splice	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	147							protein binding	p.M146I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACCACTTGATGGGTGAGTGGG	0.572000														27			20		0	0	0.001882	0	0
CX3CR1	1524	broad.mit.edu	37	3	39323131	39323131	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:39323131G>A	uc021wwc.1	-	0	96	c.56C>T	c.(55-57)tCt>tTt	p.S19F	CX3CR1_uc021wwa.1_5'Flank|CX3CR1_uc021wwb.1_5'Flank	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	0					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.A18A(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		agaagccagagagctcttcct	0.552000														29			6		0	0	0.001984	0	0
CNTN4	152330	broad.mit.edu	37	3	2928759	2928759	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:2928759G>A	uc003bpc.3	+	9	1130	c.791G>A	c.(790-792)gGa>gAa	p.G264E	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.G264E|CNTN4_uc003bpd.1_Missense_Mutation_p.G264E	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	264	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGAGCTGATGGAAAGCCAATA	0.393000														16			7		0	0	0.003080	0	0
ZEB1	6935	broad.mit.edu	37	10	31784735	31784735	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:31784735C>T	uc001ivs.4	+	2	350	c.287C>T	c.(286-288)cCt>cTt	p.P96L	ZEB1_uc001ivr.4_5'UTR|ZEB1_uc010qef.2_5'UTR|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivu.4_Missense_Mutation_p.P97L|ZEB1_uc010qeh.2_Missense_Mutation_p.P29L|ZEB1_uc001ivv.4_Intron|ZEB1_uc001ivt.4_5'UTR|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Missense_Mutation_p.P79L|ZEB1_uc009xlp.3_Missense_Mutation_p.P80L	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	96					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATCCTGGGGCCTGAAGCTCAG	0.398000														24			37		0	0	0.003610	0	0
SDK1	221935	broad.mit.edu	37	7	4247870	4247870	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:4247870G>A	uc003smx.3	+	36	5493	c.5354G>A	c.(5353-5355)gGa>gAa	p.G1785E	SDK1_uc010kso.3_Missense_Mutation_p.G1041E|SDK1_uc003smy.3_Missense_Mutation_p.G272E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1785	Fibronectin type-III 11.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AACGCCGCCGGAGATGGACCT	0.597000														56			17		0	0	0.001523	0	0
CACNA1A	773	broad.mit.edu	37	19	13386717	13386718	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:13386717_13386718CC>TT	uc002mwy.3	-	23	4171_4172	c.3935_3936GG>AA	c.(3934-3936)tgg>tAA	p.W1312*	CACNA1A_uc002mwx.3_Nonsense_Mutation_p.W18*|CACNA1A_uc010dzc.2_Nonsense_Mutation_p.W838*|CACNA1A_uc010xnd.2_Nonsense_Mutation_p.W1315*|CACNA1A_uc021ups.1_Nonsense_Mutation_p.W1312*|CACNA1A_uc010xne.2_Nonsense_Mutation_p.W1315*|CACNA1A_uc010dze.2_Nonsense_Mutation_p.W1312*|CACNA1A_uc021upt.1_Nonsense_Mutation_p.W1313*	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1313					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGAGAATATTCCAGAGGTCACG	0.579000														34			19		0	0	0.004672	0	0
SVEP1	79987	broad.mit.edu	37	9	113139557	113139557	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:113139557C>T	uc010mtz.3	-	44	10835	c.10498G>A	c.(10498-10500)Gaa>Aaa	p.E3500K	SVEP1_uc010mty.3_Missense_Mutation_p.E1426K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3500	EGF-like 8.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCACGTTCTTCACAGAGGCGC	0.517000														50			29		0	0	0.001061	0	0
DUOX1	53905	broad.mit.edu	37	15	45433531	45433532	+	Missense_Mutation	DNP	CC	TA	TA	rs141112574		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:45433531_45433532CC>TA	uc001zus.1	+	14	1953_1954	c.1607_1608CC>TA	c.(1606-1608)acc>aTA	p.T536I	DUOX1_uc001zut.1_Missense_Mutation_p.T536I|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	536	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGAAATACCACCCTGCAGGACG	0.530000														37			36		0	0	0.004672	0	0
CCDC38	120935	broad.mit.edu	37	12	96282255	96282255	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:96282255G>A	uc001tek.2	-	9	1135	c.901C>T	c.(901-903)Cca>Tca	p.P301S		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	301										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTTTCTCTGGAGTGCGAGTC	0.403000														60			83		0	0	0.003610	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154131	37154131	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:37154131C>T	uc002xiw.3	+	11	2129	c.1872C>T	c.(1870-1872)ctC>ctT	p.L624L	RALGAPB_uc002xix.3_Silent_p.L624L|RALGAPB_uc002xiy.1_Silent_p.L624L|RALGAPB_uc002xiz.3_Silent_p.L402L|RALGAPB_uc002xja.1_Silent_p.L351L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	624					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTTGCCCCTCCCTCATCATT	0.318000														85			42		0	0	0.003610	0	0
C2orf83	56918	broad.mit.edu	37	2	228476230	228476230	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:228476230G>A	uc002vph.3	-	2	568	c.333C>T	c.(331-333)tcC>tcT	p.S111S	C2orf83_uc010zlu.2_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.	111						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GGGCAGTGCTGGAGAGAGTTT	0.532000														98			29		0	0	0.003755	0	0
SLIT1	6585	broad.mit.edu	37	10	98816191	98816191	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:98816191G>A	uc001kmw.2	-	12	1440	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	SLIT1_uc009xvh.1_Silent_p.I406I	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	396					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CATCGGGCCGGATGCAGTTGA	0.597000														156			59		0	0	0.003610	0	0
GSTO1	9446	broad.mit.edu	37	10	106025864	106025864	+	Missense_Mutation	SNP	C	T	T	rs116993524	byFrequency	TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:106025864C>T	uc001kya.3	+	4	707	c.488C>T	c.(487-489)aCc>aTc	p.T163I	GSTO2_uc001kyb.3_5'Flank|GSTO2_uc010qqx.2_5'Flank|GSTO1_uc021pxr.1_Missense_Mutation_p.T135I|GSTO1_uc021pxs.1_Missense_Mutation_p.T130I	NM_004832	NP_001177932	P78417	GSTO1_HUMAN	Homo sapiens glutathione S-transferase omega 1 (GSTO1), transcript variant 1, mRNA.	163	GST C-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	AAGAAGACGACCTTCTTTGGT	0.363000														102			31		0	0	0.002836	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164383	150164383	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:150164383C>T	uc003whj.3	+	1	927	c.597C>T	c.(595-597)ccC>ccT	p.P199P		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	199						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ACGGAGGACCCTATCATGTGA	0.418000														57			37		0	0	0.005524	0	0
AOC3	8639	broad.mit.edu	37	17	41003363	41003363	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:41003363G>A	uc002ibv.3	+	0	163	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	1					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTGGGAAAATGAACCAGAAGA	0.567000														114			37		0	0	0.001951	0	0
LRP2	4036	broad.mit.edu	37	2	170013888	170013888	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:170013888G>A	uc002ues.3	-	63	12225	c.12012C>T	c.(12010-12012)tcC>tcT	p.S4004S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4004	EGF-like 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.S4004C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TACCTAGACAGGAGGTTCTGT	0.363000														14			5		0	0	0.000602	0	0
CLASRP	11129	broad.mit.edu	37	19	45563722	45563722	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:45563722C>T	uc002pak.3	+	8	884	c.786C>T	c.(784-786)taC>taT	p.Y262Y	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Silent_p.Y200Y|CLASRP_uc002pam.3_Silent_p.Y262Y|CLASRP_uc002pan.1_Non-coding_Transcript	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	262					RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AGGCCATGTACTCGGTGAGGT	0.612000														333			166		0	0	0.003610	0	0
OR6C4	341418	broad.mit.edu	37	12	55945190	55945190	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:55945190C>T	uc010spp.2	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGTATTTCTTCCTCCGGAATT	0.418000														66			42		0	0	0.002522	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356828	104356828	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:104356828C>T	uc004bbr.3	-	0	456	c.385G>A	c.(385-387)Gac>Aac	p.D129N	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	126	EF-hand 4.						calcium ion binding	p.T128T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AGCTGCCAGTCCGTCAGGTTG	0.507000														55			26		0	0	0.005443	0	0
MYO1H	283446	broad.mit.edu	37	12	109876414	109876414	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:109876414G>A	uc010sxn.1	+	21	2235	c.2235G>A	c.(2233-2235)cgG>cgA	p.R745R	MYO1H_uc010sxo.1_5'Flank	NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGGCCGTGCGGATTATCAGAA	0.512000														9			13		0	0	0.003163	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378269	138378269	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:138378269C>T	uc022bpi.1	+	0	1913	c.1913C>T	c.(1912-1914)cCc>cTc	p.P638L	PPP1R26_uc004cfr.1_Missense_Mutation_p.P638L	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	638						nucleolus	protein binding										CGAGACCTGCCCATCCAGGGC	0.657000														28			13		0	0	0.001368	0	0
ETS2	2114	broad.mit.edu	37	21	40191545	40191545	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr21:40191545C>T	uc002yxf.3	+	8	1390	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	ETS2_uc002yxg.3_Silent_p.S310S	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	310					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GGGTTCCTTCCTTCGAGAGCT	0.552000														31			13		0	0	0.001855	0	0
WDR17	116966	broad.mit.edu	37	4	177056383	177056383	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:177056383C>T	uc003iuj.3	+	8	1598	c.1295C>T	c.(1294-1296)tCc>tTc	p.S432F	WDR17_uc003ium.4_Missense_Mutation_p.S408F|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	432										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTGTACACATCCCCGGGTAAT	0.348000														49			24		0	0	0.004656	0	0
SLC25A23	79085	broad.mit.edu	37	19	6452419	6452419	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:6452419G>A	uc002mex.1	-	7	1117	c.975C>T	c.(973-975)atC>atT	p.I325I	SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_Intron	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	325					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CCCTCTCCAGGATACGCCTGG	0.647000														24			7		0	0	0.003080	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35180705	35180705	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:35180705C>T	uc003teq.1	-	10	1392	c.285G>A	c.(283-285)ttG>ttA	p.L95L	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TTCCAAACATCAAAATGAAAC	0.274000														18			11		0	0	0.000673	0	0
HNRNPU	3192	broad.mit.edu	37	1	245018278	245018278	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:245018278C>T	uc001iaz.1	-	12	2639	c.2421G>A	c.(2419-2421)caG>caA	p.Q807Q	HNRNPU_uc001iay.1_Silent_p.Q531Q|HNRNPU_uc001iba.1_Silent_p.Q788Q	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	807	Gly-rich.				CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TACTTACACCCTGCTGCCACT	0.373000														90			10		0	0	0.000978	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135911399	135911399	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:135911399G>C	uc010fnf.3	+	18	2285	c.2242G>C	c.(2242-2244)Gct>Cct	p.A748P	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.A748P|RAB3GAP1_uc010fng.3_Missense_Mutation_p.A573P|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	748						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GCCAATTCCTGCTAGAAGGCA	0.428000														40			3		0	0	0.000248	0	0
TRERF1	55809	broad.mit.edu	37	6	42237138	42237139	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:42237138_42237139CC>TT	uc003ose.2	-	4	753_754	c.190_191GG>AA	c.(190-192)ggt>AAt	p.G64N	TRERF1_uc011duq.1_Missense_Mutation_p.G64N|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.G64N	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	64					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAAGCCCAGACCATCCCGTGTA	0.584000														98			38		0	0	0.004672	0	0
KIAA1549	57670	broad.mit.edu	37	7	138546124	138546124	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:138546124C>T	uc011kql.2	-	15	5057	c.5008G>A	c.(5008-5010)Gcc>Acc	p.A1670T	KIAA1549_uc011kqi.2_Missense_Mutation_p.A454T|KIAA1549_uc011kqk.2_Missense_Mutation_p.A454T|KIAA1549_uc011kqj.2_Missense_Mutation_p.A1670T	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1670						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TACTGGGAGGCCGGGAAGGGA	0.632000			O	BRAF	pilocytic astrocytoma									36			31		0	0	0.001512	0	0
CDH22	64405	broad.mit.edu	37	20	44845504	44845504	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:44845504C>T	uc002xrm.2	-	3	1198	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	CDH22_uc010ghk.1_Missense_Mutation_p.V267I|CDH22_uc002xrn.2_Missense_Mutation_p.V18I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	267	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACGTCGGTGACTACGATGGTG	0.627000														86			51		0	0	0.003610	0	0
C18orf26	284254	broad.mit.edu	37	18	52262285	52262285	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr18:52262285G>A	uc002lfq.1	+	1	297	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	84						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		GTGAACCCAGGAATCCTTGCA	0.448000														101			37		0	0	0.002222	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475607	75475607	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:75475607C>T	uc003dpp.4	-	6	990	c.631G>A	c.(631-633)Gag>Aag	p.E211K	FAM86DP_uc003dps.4_Non-coding_Transcript|FAM86DP_uc003dpq.4_Missense_Mutation_p.E119K|FAM86DP_uc003dpr.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.																		TCACCTAGCTCGGTGGTGAAC	0.652000														105			5		0	0	0.001168	0	0
THOC3	84321	broad.mit.edu	37	5	175387026	175387026	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:175387026G>A	uc003mdg.4	-	5	1336	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D		NM_032361	NP_115737	Q96J01	THOC3_HUMAN	Homo sapiens THO complex 3 (THOC3), mRNA.	334					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	transcription export complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCCGGCTGCTGTCATATTTGC	0.547000														40			23		0	0	0.003214	0	0
IRF7	3665	broad.mit.edu	37	11	612695	612695	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:612695G>A	uc001lqg.3	-	8	1911	c.1501C>T	c.(1501-1503)Ctc>Ttc	p.L501F	IRF7_uc009ycb.3_Missense_Mutation_p.L382F|IRF7_uc010qwf.2_Missense_Mutation_p.L487F|IRF7_uc001lqf.3_Missense_Mutation_p.L195F|IRF7_uc010qwg.2_Missense_Mutation_p.L195F|IRF7_uc001lqh.3_Missense_Mutation_p.L488F|IRF7_uc001lqi.3_Missense_Mutation_p.L459F|IRF7_uc010qwh.2_Missense_Mutation_p.L195F	NM_004031	NP_004022	Q92985	IRF7_HUMAN	Homo sapiens interferon regulatory factor 7 (IRF7), transcript variant d, mRNA.	488					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGTCATAGAGGCTGTTGGCG	0.597000														23			43		0	0	0.003610	0	0
MAP4K4	9448	broad.mit.edu	37	2	102490688	102490688	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:102490688C>T	uc002tbc.3	+	24	3401	c.3023C>T	c.(3022-3024)tCt>tTt	p.S1008F	MAP4K4_uc002tbf.3_Missense_Mutation_p.S961F|MAP4K4_uc002tbd.3_Missense_Mutation_p.S900F|MAP4K4_uc010yvy.2_Missense_Mutation_p.S923F|MAP4K4_uc002tbh.3_Missense_Mutation_p.S845F|MAP4K4_uc002tbg.3_Missense_Mutation_p.S927F|MAP4K4_uc002tbi.3_Missense_Mutation_p.S730F|MAP4K4_uc010yvz.2_Missense_Mutation_p.S967F|MAP4K4_uc002tbk.3_Missense_Mutation_p.S382F|MAP4K4_uc021vlq.1_Missense_Mutation_p.S113F|MAP4K4_uc002tbl.3_Missense_Mutation_p.S113F	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	927	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGGTTTAACTCTGAGATTCTG	0.478000														12			10		0	0	0.000673	0	0
TROVE2	6738	broad.mit.edu	37	1	193038627	193038627	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:193038627T>C	uc001gss.3	+	1	819	c.443T>C	c.(442-444)cTc>cCc	p.L148P	TROVE2_uc001gsu.2_Intron|TROVE2_uc001gsv.2_Missense_Mutation_p.L148P|TROVE2_uc009wyp.3_Missense_Mutation_p.L148P|TROVE2_uc001gsw.3_Missense_Mutation_p.L148P|TROVE2_uc009wyq.3_Missense_Mutation_p.L148P|TROVE2_uc001gsx.2_Missense_Mutation_p.L148P	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	148	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding	p.L148I(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GGTCGTGCCCTCCGGAAGGCT	0.448000														102			31		0	0	0.003755	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331421	55331421	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:55331421C>T	uc002qhl.4	+	3	672	c.609C>T	c.(607-609)ccC>ccT	p.P203P	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Silent_p.P203P|KIR3DL2_uc010esf.3_Silent_p.P108P|KIR3DL2_uc021vbo.1_Silent_p.P203P|KIR3DL2_uc002qhk.4_Silent_p.P203P			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	203					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTCACACCCCCTATCAGTTGT	0.517000														153			48		0	0	0.003610	0	0
CAP2	10486	broad.mit.edu	37	6	17463268	17463268	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:17463268C>T	uc003ncb.3	+	3	507	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CAP2_uc010jpk.1_Intron|CAP2_uc011dja.2_Intron|CAP2_uc011djb.2_Silent_p.F88F|CAP2_uc011djc.2_Silent_p.F88F|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	88					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AGCGGGCTTTCCTTCTGATGG	0.498000														77			26		0	0	0.001512	0	0
SLC12A6	9990	broad.mit.edu	37	15	34546687	34546687	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:34546687A>T	uc001zhw.3	-	7	1144	c.980T>A	c.(979-981)gTc>gAc	p.V327D	SLC12A6_uc001zhv.3_Missense_Mutation_p.V276D|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.V312D|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.V268D|SLC12A6_uc001zib.3_Missense_Mutation_p.V318D|SLC12A6_uc001zic.3_Missense_Mutation_p.V327D|SLC12A6_uc010bau.3_Missense_Mutation_p.V327D|SLC12A6_uc001zid.3_Missense_Mutation_p.V268D|SLC12A6_uc001zhu.3_Missense_Mutation_p.V139D	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	327					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TACCATAAGGACCAAGAAAGC	0.473000														20			24		0	0	0.002299	0	0
ATP8A1	10396	broad.mit.edu	37	4	42414957	42414957	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:42414957C>T	uc003gwr.2	-	36	3703	c.3471G>A	c.(3469-3471)acG>acA	p.T1157T	ATP8A1_uc003gwq.2_Silent_p.T383T|ATP8A1_uc003gws.2_Silent_p.T1142T|ATP8A1_uc021xnv.1_5'Flank	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1157					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.T1157T(2)		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)	GCCTCTGTTTCGTGGTATCAT	0.458000														18			10		0	0	0.000978	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25366777	25366778	+	Silent	DNP	GA	AC	AC			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:25366777_25366778GA>AC	uc003grl.4	+	11	1431_1432	c.1395_1396GA>AC	c.(1393-1398)aagaga>aaACga	p.465_466KR>KR		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	465							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				CTACATCTAAGAGAGCTAACAA	0.391000														62			21		0	0	0.004672	0	0
OR7E24	26648	broad.mit.edu	37	19	9362583	9362583	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:9362583G>A	uc002mlb.1	+	0	864	c.864G>A	c.(862-864)aaG>aaA	p.K288K		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CCCCCAGGAAGAGTATGGTGG	0.522000														32			14		0	0	0.003163	0	0
ACTRT3	84517	broad.mit.edu	37	3	169485798	169485798	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:169485798C>T	uc003ffs.2	-	1	916	c.541G>A	c.(541-543)Ggc>Agc	p.G181S	TERC_uc003ffr.1_5'Flank	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Homo sapiens actin related protein M1 (ARPM1), mRNA.	181						cytoplasm|cytoskeleton											AGGTCAAGGCCTGCCAGATCC	0.498000														47			30		0	0	0.001512	0	0
PITPNM2	57605	broad.mit.edu	37	12	123519098	123519098	+	Missense_Mutation	SNP	C	T	T	rs140068156		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:123519098C>T	uc001uej.1	-	1	239	c.40G>A	c.(40-42)Gtg>Atg	p.V14M	PITPNM2_uc001uek.1_Missense_Mutation_p.V14M|PITPNM2_uc009zxu.1_Missense_Mutation_p.V14M	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	14					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TACTCCTCCACGGTCATTGGC	0.572000														51			19		0	0	0.001216	0	0
BRAT1	221927	broad.mit.edu	37	7	2578367	2578367	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:2578367G>A	uc003smi.3	-	13	2090	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F	BRAT1_uc003smh.4_Missense_Mutation_p.S33F	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	601					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CGAGTCTACGGAGAGGATGTG	0.672000														46			38		0	0	0.001706	0	0
MYH1	4619	broad.mit.edu	37	17	10401153	10401153	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:10401153C>T	uc002gmo.3	-	30	4357	c.4263G>A	c.(4261-4263)acG>acA	p.T1421T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1421						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCTCTGCTTCGTCTTCTCAA	0.473000														45			22		0	0	0.002299	0	0
KIF1A	547	broad.mit.edu	37	2	241657548	241657548	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:241657548C>T	uc010fzk.3	-	47	5499	c.5252G>A	c.(5251-5253)gGc>gAc	p.G1751D	KIF1A_uc002vzy.3_Missense_Mutation_p.G1650D|KIF1A_uc002vzw.3_Missense_Mutation_p.G311D|KIF1A_uc002vzx.3_Missense_Mutation_p.G377D	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1650					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAGCAGGATGCCGCGGTGTTC	0.667000														14			7		0	0	0.001984	0	0
HLCS	3141	broad.mit.edu	37	21	38139568	38139568	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr21:38139568C>T	uc010gnb.3	-	7	2884	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P	HLCS_uc021wjb.1_Silent_p.P490P|HLCS_uc002yvs.3_Silent_p.P490P	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	490					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	p.P490P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCATTTCCTGCGGTGTCTGAA	0.547000														65			26		0	0	0.004656	0	0
ZNF618	114991	broad.mit.edu	37	9	116770806	116770806	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:116770806C>T	uc004bid.3	+	8	825	c.726C>T	c.(724-726)ccC>ccT	p.P242P	ZNF618_uc004bib.1_Silent_p.P210P|ZNF618_uc004bic.3_Silent_p.P210P|ZNF618_uc011lxi.2_Silent_p.P210P|ZNF618_uc011lxj.2_Silent_p.P210P	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGGAGGAGCCCCCGGAGCCAT	0.652000														32			12		0	0	0.001855	0	0
QRICH2	84074	broad.mit.edu	37	17	74288492	74288492	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:74288492G>A	uc002jrd.1	-	3	1998	c.1818C>T	c.(1816-1818)gtC>gtT	p.V606V	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	606	Gln-rich.						protein binding	p.V606V(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTCCAGGTTGGACCAAACCAT	0.537000														31			25		0	0	0.003330	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785585	1785585	+	Silent	SNP	G	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:1785585G>C	uc002ltw.3	-	25	3510	c.3276C>G	c.(3274-3276)gtC>gtG	p.V1092V	ATP8B3_uc002ltv.3_Silent_p.V1055V|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1092					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		TGAAGAAGTTGACCAGAGAGG	0.612000														38			13		0	0	0.001368	0	0
OR2G3	81469	broad.mit.edu	37	1	247769173	247769173	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:247769173G>A	uc010pyz.2	+	0	286	c.286G>A	c.(286-288)Ggt>Agt	p.G96S		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACTTACGGTGGTTGTGTGGC	0.483000														309			110		0	0	0.003610	0	0
RPL11	6135	broad.mit.edu	37	1	24020315	24020315	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:24020315C>T	uc001bhk.3	+	2	221	c.176C>T	c.(175-177)tCc>tTc	p.S59F	RPL11_uc001bhl.3_Missense_Mutation_p.S58F	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	59					endocrine pancreas development|protein localization to nucleus|protein targeting|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		ACTGTCAGATCCTTTGGCATC	0.493000														43			17		0	0	0.001216	0	0
SLC44A4	80736	broad.mit.edu	37	6	31839334	31839334	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:31839334C>T	uc010jti.3	-	7	600	c.534G>A	c.(532-534)ctG>ctA	p.L178L	SLC44A4_uc011dol.2_Silent_p.L102L|SLC44A4_uc011dom.2_Silent_p.L136L	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	178						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGCAGCGCCCCAGAGCTGGAA	0.657000														167			89		0	0	0.003610	0	0
KIAA0922	23240	broad.mit.edu	37	4	154557689	154557689	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:154557689C>T	uc010ipp.3	+	34	4846	c.4794C>T	c.(4792-4794)ttC>ttT	p.F1598F	KIAA0922_uc003inm.4_Silent_p.F1597F|KIAA0922_uc010ipq.3_Silent_p.F1366F	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1597						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ATGCAAATTTCCCACTGTCTA	0.418000														60			27		0	0	0.001271	0	0
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:56539808C>T	uc002qmj.3	+	6	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	NLRP5_uc002qmi.3_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	737						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498000														195			100		0	0	0.003610	0	0
PNPLA7	375775	broad.mit.edu	37	9	140438180	140438180	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:140438180T>A	uc010ncj.1	-	4	698	c.361A>T	c.(361-363)Aag>Tag	p.K121*	PNPLA7_uc004cnf.2_Nonsense_Mutation_p.K96*	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	96					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CAGTACCTCTTGGCCAAAGAC	0.632000														63			34		0	0	0.003271	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457978	20457978	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:20457978G>A	uc002zsd.4	-	0	3809	c.3324C>T	c.(3322-3324)ctC>ctT	p.L1108L	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGGTCACAGGGAGCCAGCTGA	0.602000														24			4		0	0	0.000602	0	0
C7orf58	79974	broad.mit.edu	37	7	120906769	120906769	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:120906769C>T	uc003vjq.4	+	19	2987	c.2540C>T	c.(2539-2541)cCc>cTc	p.P847L		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	847						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AGATCACGTCCCCTAGAGAAT	0.398000														52			13		0	0	0.001855	0	0
KIF21A	55605	broad.mit.edu	37	12	39698727	39698727	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:39698727C>T	uc001rly.3	-	34	4876	c.4456G>A	c.(4456-4458)Gga>Aga	p.G1486R	KIF21A_uc001rlv.3_Missense_Mutation_p.G431R|KIF21A_uc001rlw.3_Missense_Mutation_p.G756R|KIF21A_uc001rlx.3_Missense_Mutation_p.G1473R|KIF21A_uc001rlz.3_Missense_Mutation_p.G1433R|KIF21A_uc010skl.2_Missense_Mutation_p.G1449R|KIF21A_uc001rlt.3_Missense_Mutation_p.G106R|KIF21A_uc001rlu.3_Missense_Mutation_p.G106R	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1486					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTTAACTTTCCTGTAGACTGA	0.353000														15			8		0	0	0.003080	0	0
CECR6	27439	broad.mit.edu	37	22	17601206	17601206	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:17601206G>A	uc002zmb.2	-	0	1008	c.812C>T	c.(811-813)gCg>gTg	p.A271V	CECR6_uc002zma.2_Intron|BC021738_uc002zmc.3_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.	271	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CAGGGGCGGCGCGGCGTGGTG	0.801000														32			6		0	0	0.001984	0	0
OR5B3	441608	broad.mit.edu	37	11	58170372	58170372	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:58170372C>T	uc010rkf.2	-	0	511	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N170S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGATGGACTTCATTGGACTTA	0.443000														12			20		0	0	0.001216	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142224030	142224030	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:142224030G>A	uc003vyi.2	-	1	154	c.137C>T	c.(136-138)tCt>tTt	p.S46F	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AGCATGGCCAGAAATAGGATC	0.488000														40			39		0	0	0.001485	0	0
DNAH11	8701	broad.mit.edu	37	7	21775406	21775406	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:21775406A>G	uc003svc.3	+	46	7641	c.7610A>G	c.(7609-7611)gAt>gGt	p.D2537G		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2537	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2536*(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTCTGAGGATTACATAGTA	0.418000									Kartagener syndrome					62			88		0	0	0.003610	0	0
LOC650368	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:3427765G>C	uc010qxs.1	+	8		c.758G>C			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CACACGTCCTGCAGTGGCCTG	0.602000														38			4		0	0	0.000248	0	0
USP6NL	9712	broad.mit.edu	37	10	11505127	11505127	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:11505127G>A	uc001iks.1	-	13	1894	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	USP6NL_uc001ikt.3_Silent_p.S600S	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	600						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TAAACTTGTTGGATACTTTTG	0.547000														14			19		0	0	0.006122	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906733	13906733	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:13906733G>A	uc001rbt.2	-	2	707	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	176					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTAGCCAGGGAAATAGGTGG	0.478000														88			51		0	0	0.003610	0	0
DAK	26007	broad.mit.edu	37	11	61113332	61113332	+	Missense_Mutation	SNP	G	A	A	rs34035740	byFrequency	TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:61113332G>A	uc001nre.3	+	16	1746	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	DAK_uc009ynm.1_Missense_Mutation_p.D427N	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	497	DhaL.			D -> G (in Ref. 2; BAB14722).	glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TGTCCAGCTGGATTCTCTGTG	0.582000														40			33		0	0	0.002836	0	0
BIRC6	57448	broad.mit.edu	37	2	32640219	32640219	+	Silent	SNP	T	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:32640219T>G	uc010ezu.3	+	9	1994	c.1860T>G	c.(1858-1860)tcT>tcG	p.S620S		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	620					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AACTAAATTCTCCTCTGGTAA	0.393000														45			12		0	0	0.001855	0	0
TNR	7143	broad.mit.edu	37	1	175365882	175365882	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:175365882C>T	uc001gkp.1	-	2	1119	c.1038G>A	c.(1036-1038)tgG>tgA	p.W346*	TNR_uc009wwu.1_Nonsense_Mutation_p.W346*|TNR_uc010pmz.1_Intron	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	346	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCGGCCCGTCCCATTCCAGCT	0.607000														100			84		0	0	0.003610	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3674141	3674142	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:3674141_3674142GG>AA	uc002wja.3	-	12	3460_3461	c.3460_3461CC>TT	c.(3460-3462)cct>TTt	p.P1154F	SIGLEC1_uc002wiz.4_Missense_Mutation_p.P1154F|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1154	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGCCCGACCAGGGGGGCCCACA	0.644000														52			32		0	0	0.004672	0	0
DNMBP	23268	broad.mit.edu	37	10	101643929	101643929	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:101643929G>A	uc001kqj.2	-	14	3928	c.3836C>T	c.(3835-3837)tCc>tTc	p.S1279F	DNMBP_uc010qpl.1_Missense_Mutation_p.S215F|DNMBP_uc001kqg.2_Missense_Mutation_p.S567F|DNMBP_uc001kqh.2_Missense_Mutation_p.S911F	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1279					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGCCAGGAGGGAGGCCCGGAG	0.498000														87			50		0	0	0.003610	0	0
FAM169A	26049	broad.mit.edu	37	5	74078953	74078953	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:74078953C>T	uc003kdm.3	-	11	1310	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	FAM169A_uc010izm.3_Missense_Mutation_p.E363K|FAM169A_uc003kdl.3_Missense_Mutation_p.E241K	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA.	423	Asp/Glu-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GGCTCTAATTCAGATTCCTAC	0.398000														27			45		0	0	0.003610	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238628209	238628209	+	Splice_Site	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:238628209C>T	uc002vxe.3	+	3	490	c.198_splice	c.e3+1	p.S66_splice	LRRFIP1_uc002vxc.3_Splice_Site_p.S98_splice|LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxd.3_Splice_Site_p.S66_splice|LRRFIP1_uc002vxf.3_Intron	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 3, mRNA.	66					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	p.S66L(2)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGAAACACATCGGTTAGTACC	0.373000														24			16		0	0	0.001216	0	0
PTGFR	5737	broad.mit.edu	37	1	78959094	78959094	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:78959094C>T	uc001din.3	+	1	932	c.666C>T	c.(664-666)atC>atT	p.I222I	PTGFR_uc001dim.3_Silent_p.I222I	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	222					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.I222I(3)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCAATGCAATCACAGGAATTA	0.383000														66			35		0	0	0.005524	0	0
KIAA1009	22832	broad.mit.edu	37	6	84894991	84894991	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:84894991G>A	uc010kbp.3	-	12	1674	c.1577C>T	c.(1576-1578)tCt>tTt	p.S526F	KIAA1009_uc003pkj.4_Missense_Mutation_p.S450F|KIAA1009_uc003pkk.2_Missense_Mutation_p.S526F|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	526					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTCAAGAGTAGAAAACATCTT	0.388000														59			54		0	0	0.003610	0	0
MUSK	4593	broad.mit.edu	37	9	113547266	113547266	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:113547266G>A	uc022blv.1	+	11	1690	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.R430Q|MUSK_uc022blu.1_Missense_Mutation_p.R420Q	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	519					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R519Q(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TATTGCTGCCGAAGAAGAAAA	0.358000														109			47		0	0	0.003610	0	0
CYP3A43	64816	broad.mit.edu	37	7	99461188	99461188	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:99461188G>A	uc003ury.1	+	11	1388	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	CYP3A43_uc003urx.1_Missense_Mutation_p.D428N|CYP3A43_uc003urz.1_Intron|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.D318N|CYP3A43_uc003usb.1_Intron	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	428			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GGACAGCATAGATCTTTACAG	0.378000														68			13		0	0	0.003163	0	0
PPM1L	151742	broad.mit.edu	37	3	160474483	160474483	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:160474483G>A	uc003fdr.3	+	0	488	c.387G>A	c.(385-387)ggG>ggA	p.G129G		NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	129	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCTTCGACGGGCACGGGGGAG	0.562000														50			19		0	0	0.001523	0	0
ABLIM1	3983	broad.mit.edu	37	10	116251619	116251620	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:116251619_116251620GG>AA	uc021pyx.1	-	6	1011_1012	c.912_913CC>TT	c.(910-915)taccac>taTTac	p.H305Y	ABLIM1_uc021pyw.1_Missense_Mutation_p.H305Y|ABLIM1_uc021pyy.1_Missense_Mutation_p.H245Y|ABLIM1_uc021pyz.1_Missense_Mutation_p.H239Y|ABLIM1_uc021pza.1_Missense_Mutation_p.H245Y|ABLIM1_uc021pze.1_Missense_Mutation_p.H229Y|ABLIM1_uc021pzf.1_Missense_Mutation_p.H239Y|ABLIM1_uc021pyv.1_5'UTR|ABLIM1_uc021pzb.1_5'UTR|ABLIM1_uc021pzc.1_5'UTR|ABLIM1_uc021pzd.1_Missense_Mutation_p.H153Y|ABLIM1_uc021pyu.1_5'UTR	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	305	LIM zinc-binding 4.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CAGCTGGGGTGGTAATGTTTGT	0.450000														124			78		0	0	0.004672	0	0
LDB1	8861	broad.mit.edu	37	10	103871231	103871231	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:103871231G>A	uc009xwz.3	-	1	431	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	LDB1_uc001kuk.4_5'UTR|LDB1_uc001kul.3_5'UTR	NM_001113407	NP_003884	Q86U70	LDB1_HUMAN	Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA.	30					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TGGAAGGGGGGAAAGGCGTTG	0.572000														67			60		0	0	0.003610	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10918750	10918750	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:10918750G>A	uc002ras.3	+	11	1125	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*	ATP6V1C2_uc002rat.3_Nonsense_Mutation_p.W293*	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	339					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.V338I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TTCATTGCCTGGATCCACATC	0.617000														47			44		0	0	0.003610	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355231	70355231	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:70355231C>T	uc003hek.4	-	2	975	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	UGT2B4_uc011cap.2_Missense_Mutation_p.G174R|UGT2B4_uc003hel.4_Missense_Mutation_p.G310R	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	310					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G310W(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACCATCGACCCCAGAGAAAAC	0.388000														74			24		0	0	0.003330	0	0
COL6A6	131873	broad.mit.edu	37	3	130394152	130394152	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:130394152G>A	uc010htl.3	+	35	6734	c.6703G>A	c.(6703-6705)Gat>Aat	p.D2235N	COL6A6_uc003eni.4_Missense_Mutation_p.D334N	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	2235	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAGTGGCAGAGATGATGCTAT	0.353000														7			5		0	0	0.000602	0	0
RPS16	6217	broad.mit.edu	37	19	39924333	39924333	+	Silent	SNP	C	T	T	rs11555712		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:39924333C>T	uc002olm.3	-	2	302	c.219G>A	c.(217-219)aaG>aaA	p.K73K	RPS16_uc002olk.3_Silent_p.K73K|RPS16_uc002oll.3_Silent_p.K56K			P62249	RS16_HUMAN	Homo sapiens ribosomal protein S16 (RPS16), mRNA.	73					endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome	p.V72L(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACCACCACCCTTTACACGGA	0.567000														27			24		0	0	0.003330	0	0
FCHO2	115548	broad.mit.edu	37	5	72337118	72337118	+	Splice_Site	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:72337118G>A	uc003kcl.3	+	11	1031	c.915_splice	c.e11-1	p.V305_splice	FCHO2_uc011csl.2_Splice_Site_p.V272_splice	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	305										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTTTTAATAGGGAATGTCCTG	0.249000														5			7		0	0	0.000443	0	0
DNMBP	23268	broad.mit.edu	37	10	101646372	101646372	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:101646372C>T	uc001kqj.2	-	12	3395	c.3303G>A	c.(3301-3303)cgG>cgA	p.R1101R	DNMBP_uc010qpl.1_Silent_p.R37R|DNMBP_uc001kqg.2_Silent_p.R389R|DNMBP_uc001kqh.2_Silent_p.R733R	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1101	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGATGACAAGCCGCTCTGTCC	0.473000														76			61		0	0	0.003610	0	0
MUC21	394263	broad.mit.edu	37	6	30955900	30955901	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:30955900_30955901CC>TT	uc003nsh.2	+	2	1881_1882	c.1630_1631CC>TT	c.(1630-1632)cct>TTt	p.P544F	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.P528F	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	544	Cytoplasmic tail.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGGTGGAGTCCTAACTGGTTC	0.604000														51			29		0	0	0.004672	0	0
RANBP2	5903	broad.mit.edu	37	2	109388184	109388184	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:109388184C>T	uc002tem.4	+	20	8003	c.7877C>T	c.(7876-7878)tCt>tTt	p.S2626F		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2626					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCTGAAGATTCTCCCTCAGAT	0.358000														97			89		0	0	0.003610	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73175171	73175171	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:73175171C>G	uc003hgk.2	-	14	2159	c.2122G>C	c.(2122-2124)Gat>Cat	p.D708H	ADAMTS3_uc003hgl.3_Missense_Mutation_p.D49H	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	708	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGGAATTATCTCCTCCACAG	0.428000														24			9		0	0	0.004482	0	0
PSPH	5723	broad.mit.edu	37	7	56079530	56079530	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:56079530G>A	uc003trj.3	-	5	1005	c.690C>T	c.(688-690)atC>atT	p.I230I	PSPH_uc003trh.3_Silent_p.I201I|PSPH_uc003tri.3_Silent_p.I201I	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	201					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.I201I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTGTTGCCTGATCACATTTC	0.358000														61			19		0	0	0.001882	0	0
FAM110B	90362	broad.mit.edu	37	8	59059230	59059230	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:59059230C>T	uc022auu.1	+	0	441	c.441C>T	c.(439-441)caC>caT	p.H147H	FAM110B_uc003xtj.1_Silent_p.H147H	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	147						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGCCGCCCCACCGGTCGGAAG	0.657000														13			20		0	0	0.000958	0	0
CAND1	55832	broad.mit.edu	37	12	67699385	67699385	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:67699385C>T	uc001stn.2	+	9	2374	c.1937C>T	c.(1936-1938)cCt>cTt	p.P646L	CAND1_uc001sto.2_Missense_Mutation_p.P156L	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	646					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GATTTGAGGCCTGTTCTGGGA	0.393000														64			40		0	0	0.002222	0	0
FER1L6	654463	broad.mit.edu	37	8	125072424	125072424	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:125072424C>T	uc003yqw.3	+	22	3084	c.2878C>T	c.(2878-2880)Cct>Tct	p.P960S	AK057332_uc003yqy.1_Non-coding_Transcript	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	960						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCGGTAGGTTCCTCCTTCTGG	0.547000														80			137		0	0	0.003610	0	0
VEGFA	7422	broad.mit.edu	37	6	43752296	43752296	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:43752296G>A	uc003owh.3	+	7	1734	c.1236G>A	c.(1234-1236)cgG>cgA	p.R412R	VEGFA_uc003owd.3_3'UTR|VEGFA_uc010jyx.3_Silent_p.R317R|VEGFA_uc003owf.3_Silent_p.R395R|VEGFA_uc003owg.3_Silent_p.R389R|VEGFA_uc003owe.3_Silent_p.R371R|VEGFA_uc021yzu.1_Silent_p.R350R|VEGFA_uc003owj.3_Silent_p.R327R|VEGFA_uc003owi.3_Intron|VEGFA_uc003owk.3_Non-coding_Transcript	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	232					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	AGCCGAGGCGGTGAGCCGGGC	0.587000														122			46		0	0	0.003610	0	0
ZNF446	55663	broad.mit.edu	37	19	58989497	58989497	+	Silent	SNP	C	T	T	rs151261644		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:58989497C>T	uc002qsz.3	+	3	693	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ZNF446_uc002qta.3_Silent_p.N192N|ZNF446_uc010eur.3_Silent_p.N192N	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	Homo sapiens zinc finger protein 446 (ZNF446), mRNA.	192			N -> H (in dbSNP:rs893185).		viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGAGGGGAACCATGGACACC	0.607000														38			19		0	0	0.002780	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392573	22392573	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr14:22392573C>T	uc010aiz.2	+	1	171	c.96C>T	c.(94-96)ttC>ttT	p.F32F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|TRAV14DV4_uc021rpk.1_5'Flank					SubName: Full=HADV14S1; Flags: Fragment;																		CAGGAATGTTCGTGCAGGAAA	0.443000														12			27		0	0	0.005443	0	0
SPICE1	152185	broad.mit.edu	37	3	113186999	113186999	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:113186999C>T	uc003eag.4	-	9	1433	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.R277Q	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	381					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTTAAGGTACCGAACCAGGCG	0.473000														78			25		0	0	0.001061	0	0
LMBR1	64327	broad.mit.edu	37	7	156549148	156549148	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:156549148G>A	uc010lqn.3	-	8	911	c.696C>T	c.(694-696)gaC>gaT	p.D232D	LMBR1_uc003wmv.4_Silent_p.D80D|LMBR1_uc003wmw.4_Silent_p.D232D|LMBR1_uc003wmx.4_Silent_p.D80D|LMBR1_uc011kvx.2_Silent_p.D211D	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	232						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTTCATCCAGGTCTTCAAGAA	0.284000														78			21		0	0	0.003330	0	0
CACNA1D	776	broad.mit.edu	37	3	53845206	53845206	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:53845206G>A	uc003dgv.4	+	47	6422	c.6259G>A	c.(6259-6261)Gaa>Aaa	p.E2087K	CACNA1D_uc003dgu.4_Missense_Mutation_p.E2107K|CACNA1D_uc003dgy.4_Missense_Mutation_p.E2063K|CACNA1D_uc003dgw.4_Missense_Mutation_p.E1754K|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	2087					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			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)	AACAAAACACGAAATCGCTGA	0.552000														67			23		0	0	0.002299	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18715647	18715647	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:18715647G>A	uc001rdt.3	+	25	3594	c.3478G>A	c.(3478-3480)Gaa>Aaa	p.E1160K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E1201K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E979K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1160	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAAATAAAGGAAAGTCTGGA	0.373000														11			9		0	0	0.004482	0	0
PYGB	5834	broad.mit.edu	37	20	25277073	25277073	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:25277073G>A	uc002wup.3	+	19	2556	c.2447G>A	c.(2446-2448)cGg>cAg	p.R816Q	ABHD12_uc002wuq.3_Intron	NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	816					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TCCAGTGACCGGACCATCACG	0.607000														53			34		0	0	0.003271	0	0
ABO	28	broad.mit.edu	37	9	136131067	136131068	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:136131067_136131068CC>TT	uc004cda.1	-	7	1072_1073	c.1047_1048GG>AA	c.(1045-1050)gcggtc>gcAAtc	p.V350I	ABO_uc010naf.1_Missense_Mutation_p.V210I|ABO_uc011mcz.1_Missense_Mutation_p.V210I|ABO_uc010nag.1_Missense_Mutation_p.V210I	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	351					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		GGGTTCCGGACCGCCTGGTGGT	0.668000														8			8		0	0	0.004672	0	0
TMEM184C	55751	broad.mit.edu	37	4	148545004	148545004	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:148545004C>T	uc003ila.4	+	1	712	c.143C>T	c.(142-144)gCt>gTt	p.A48V		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	Homo sapiens transmembrane protein 184C (TMEM184C), mRNA.	48						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CACACCAAGGCTTGGTTTATT	0.358000														55			13		0	0	0.002450	0	0
SWSAP1	126074	broad.mit.edu	37	19	11486628	11486628	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:11486628C>T	uc002mrg.1	+	1	663	c.626C>T	c.(625-627)cCg>cTg	p.P209L		NM_175871	NP_787067	Q6NVH7	CS039_HUMAN	Homo sapiens SWIM-type zinc finger 7 associated protein 1 (SWSAP1), mRNA.	209																	ATGATCGCTCCGTGGCCCACC	0.622000														24			18		0	0	0.001882	0	0
XPO5	57510	broad.mit.edu	37	6	43494440	43494440	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:43494440G>A	uc003ovp.3	-	26	3177	c.2966C>T	c.(2965-2967)cCc>cTc	p.P989L	POLR1C_uc003ovo.2_Intron	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	989					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ATCTGCTGGGGGAGCACTACT	0.493000														33			11		0	0	0.001368	0	0
PSMD4	5710	broad.mit.edu	37	1	151238481	151238482	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:151238481_151238482CC>TT	uc001exl.3	+	6	718_719	c.656_657CC>TT	c.(655-657)gcc>gTT	p.A219V		NM_002810	NP_002801	P55036	PSMD4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA.	219	Essential for ubiquitin-binding.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTTCACCAGGCCCTTCGTGTAT	0.624000														45			30		0	0	0.004672	0	0
GABRP	2568	broad.mit.edu	37	5	170224519	170224519	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:170224519G>A	uc003mau.3	+	5	706	c.508G>A	c.(508-510)Gac>Aac	p.D170N	GABRP_uc011dev.2_Missense_Mutation_p.D170N	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	170						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATACCCCATGGACACACAGAC	0.408000														19			35		0	0	0.005524	0	0
PSG8	440533	broad.mit.edu	37	19	43262198	43262198	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:43262198G>T	uc002ouo.2	-	2	763	c.665C>A	c.(664-666)cCa>cAa	p.P222Q	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.P222Q|PSG8_uc010ein.3_Missense_Mutation_p.P100Q|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	222	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGCACTCACTGGGTTCCGTAT	0.507000														235			111		8.58103e-55	1.67145e-54	0.003610	1	0
OGDHL	55753	broad.mit.edu	37	10	50948822	50948822	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:50948822G>A	uc009xog.3	-	14	2189	c.2155C>T	c.(2155-2157)Cat>Tat	p.H719Y	OGDHL_uc001jie.3_Missense_Mutation_p.H692Y|OGDHL_uc010qgt.2_Missense_Mutation_p.H635Y|OGDHL_uc010qgu.2_Missense_Mutation_p.H483Y	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	692					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGCCAGAGATGATTCATAGGC	0.637000														15			25		0	0	0.004656	0	0
SRPR	6734	broad.mit.edu	37	11	126136502	126136502	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:126136502G>A	uc001qdh.3	-	5	887	c.709C>T	c.(709-711)Cca>Tca	p.P237S	SRPR_uc010sbm.2_Missense_Mutation_p.P209S|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	237					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTCTCCTTTGGAGCATCTGAC	0.498000														37			68		0	0	0.003610	0	0
TCTN3	26123	broad.mit.edu	37	10	97446807	97446807	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:97446807G>A	uc001klb.4	-	5	1090	c.846C>T	c.(844-846)gtC>gtT	p.V282V	TCTN3_uc010qoi.2_Silent_p.V203V|TCTN3_uc001kld.3_Silent_p.V300V|TCTN3_uc009xux.1_Silent_p.V131V|TCTN3_uc009xuy.1_Non-coding_Transcript	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	Homo sapiens tectonic family member 3 (TCTN3), transcript variant 1, mRNA.	282					apoptosis	integral to membrane		p.A282V(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CTACCTTTAAGACTGTGAAGT	0.418000														33			26		0	0	0.001061	0	0
LCMT1	51451	broad.mit.edu	37	16	25186276	25186276	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:25186276C>T	uc002dnx.1	+	9	1061	c.903C>T	c.(901-903)ttC>ttT	p.F301F	LCMT1_uc002dny.1_Silent_p.F246F	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	301				F -> L (in Ref. 3; BAB15270).			S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CACTTGAATTCCTGGATGAAA	0.428000														9			14		0	0	0.001855	0	0
TBC1D2	55357	broad.mit.edu	37	9	101014073	101014073	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:101014073C>T	uc011lvb.2	-	1	685	c.505G>A	c.(505-507)Gag>Aag	p.E169K	TBC1D2_uc004ayq.3_Missense_Mutation_p.E169K|TBC1D2_uc004ayr.3_Intron	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	169	Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTACCTAGCTCGAGGTGCAGG	0.647000														70			37		0	0	0.001287	0	0
TROVE2	6738	broad.mit.edu	37	1	193038629	193038629	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:193038629C>T	uc001gss.3	+	1	821	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	TROVE2_uc001gsu.2_Intron|TROVE2_uc001gsv.2_Missense_Mutation_p.R149W|TROVE2_uc009wyp.3_Missense_Mutation_p.R149W|TROVE2_uc001gsw.3_Missense_Mutation_p.R149W|TROVE2_uc009wyq.3_Missense_Mutation_p.R149W|TROVE2_uc001gsx.2_Missense_Mutation_p.R149W	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	149	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding	p.L148I(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TCGTGCCCTCCGGAAGGCTAT	0.448000														109			33		0	0	0.004878	0	0
OR13F1	138805	broad.mit.edu	37	9	107266751	107266751	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:107266751G>A	uc011lvm.2	+	0	208	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTCCTTTCTGGACATCTGGTA	0.483000														121			48		0	0	0.003610	0	0
TRERF1	55809	broad.mit.edu	37	6	42200500	42200500	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:42200500G>A	uc003ose.2	-	16	3820	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L	TRERF1_uc011duq.1_Missense_Mutation_p.S983L|TRERF1_uc003osb.2_Missense_Mutation_p.S834L|TRERF1_uc003osc.2_Missense_Mutation_p.S822L|TRERF1_uc003osd.2_Missense_Mutation_p.S1066L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1066	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTCTTTACCGAACAGTACCC	0.642000														43			35		0	0	0.005524	0	0
ABCB11	8647	broad.mit.edu	37	2	169788943	169788943	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:169788943G>A	uc002ueo.1	-	23	3283	c.3157C>T	c.(3157-3159)Caa>Taa	p.Q1053*	ABCB11_uc010zda.1_Nonsense_Mutation_p.Q495*|ABCB11_uc010zdb.1_Nonsense_Mutation_p.Q529*	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1053					bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCCAGCAGTTGAAAAAAGCGT	0.433000														12			7		0	0	0.003080	0	0
CDKL3	51265	broad.mit.edu	37	5	133536105	133536105	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:133536105A>G	uc003kze.3	-	4	1057	c.659T>C	c.(658-660)tTt>tCt	p.F220S		NM_002715	NP_002706	Q8IVW4	CDKL3_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, alpha isozyme (PPP2CA), mRNA.	0	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	p.L220F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTTGCCCAAAGGTGTAACC	0.463000														11			14		0	0	0.002450	0	0
COL6A1	1291	broad.mit.edu	37	21	47409526	47409526	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr21:47409526G>A	uc002zhu.1	+	9	965	c.863G>A	c.(862-864)aGa>aAa	p.R288K		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	288	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TTCCAGGGAAGACCCGGGGAC	0.682000														66			28		0	0	0.001512	0	0
PKD1	5310	broad.mit.edu	37	16	2161314	2161314	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:2161314C>T	uc002cos.1	-	14	4063	c.3854G>A	c.(3853-3855)cGg>cAg	p.R1285Q	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R1285Q	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1285	PKD 7.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGCAGGCTCCGGGCCAGGTG	0.706000														23			21		0	0	0.001882	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254505	30254505	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chrX:30254505A>T	uc022bug.1	+	0	464	c.464A>T	c.(463-465)aAa>aTa	p.K155I	MAGEB3_uc004dca.2_Missense_Mutation_p.K155I	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	155	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ATCCTTAAAAAAGCTTCTTTC	0.373000														8			39		0	0	0.005524	0	0
LRIT3	345193	broad.mit.edu	37	4	110791065	110791065	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:110791065G>A	uc003hzx.4	+	2	1218	c.1025G>A	c.(1024-1026)tGg>tAg	p.W342*	LRIT3_uc003hzw.4_Nonsense_Mutation_p.W204*	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	342	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCATATCTTTGGtcctcttcc	0.473000														84			71		0	0	0.003610	0	0
MZF1	7593	broad.mit.edu	37	19	59081864	59081865	+	Silent	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:59081864_59081865GG>AA	uc002qto.3	-	2	987_988	c.426_427CC>TT	c.(424-429)gtccta>gtTTta	p.142_143VL>VL	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Silent_p.142_143VL>VL|MZF1_uc010euu.1_Silent_p.183_184VL>VL	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	142					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.L143V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TTCTCTGATAGGACCTCCTGGC	0.599000														26			15		0	0	0.004672	0	0
RPL10	6134	broad.mit.edu	37	X	153628162	153628162	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chrX:153628162T>C	uc004fkm.2	+	4	397	c.209T>C	c.(208-210)aTt>aCt	p.I70T	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Missense_Mutation_p.I70T|RPL10_uc004fkn.1_Missense_Mutation_p.I70T|RPL10_uc004fkq.1_Non-coding_Transcript|RPL10_uc004fkr.1_5'UTR|SNORA70_uc010nux.1_5'Flank|RPL10_uc022cif.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	70					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GCTGCCCGAATTTGTGCCAAT	0.493000														18			57		0	0	0.003610	0	0
OR14C36	127066	broad.mit.edu	37	1	248512748	248512748	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:248512748C>T	uc010pzl.2	+	0	672	c.672C>T	c.(670-672)ctC>ctT	p.L224L		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L224L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CGACCGTGCTCGGGTTTCCAA	0.498000														104			28		0	0	0.004656	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644195	37644195	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:37644195G>A	uc002ofo.1	-	4	837	c.606C>T	c.(604-606)ttC>ttT	p.F202F	ZNF585A_uc002ofm.1_Silent_p.F147F|ZNF585A_uc002ofn.1_Silent_p.F147F	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGATGCCTGAAGAGGGACG	0.388000														67			31		0	0	0.002445	0	0
SDF4	51150	broad.mit.edu	37	1	1153003	1153003	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:1153003G>A	uc001adh.4	-	6	1307	c.978C>T	c.(976-978)gcC>gcT	p.A326A	SDF4_uc001adg.3_Non-coding_Transcript|SDF4_uc001adi.4_3'UTR|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	326	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GGTTCTCGTCGGCGACGGCGA	0.637000														74			37		0	0	0.001706	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478892	110478892	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:110478892C>T	uc003yne.3	+	49	8603	c.8499C>T	c.(8497-8499)ttC>ttT	p.F2833F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2833					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S2832N(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCATTGGGTTCCCTGGATCAG	0.478000										HNSCC(38;0.096)				16			20		0	0	0.001216	0	0
ZNF71	58491	broad.mit.edu	37	19	57133976	57133977	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:57133976_57133977GG>AA	uc002qnm.4	+	2	1559_1560	c.1321_1322GG>AA	c.(1321-1323)ggc>AAc	p.G441N	ZNF71_uc021vcg.1_Missense_Mutation_p.G441N	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTACAGGTGCGGCCAGTGCGGG	0.649000														33			13		0	0	0.004672	0	0
FAM190A	401145	broad.mit.edu	37	4	91321259	91321259	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:91321259G>A	uc003hsv.4	+	3	1922	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.E528K	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	528										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ATTTTTAGAGGAACAGAGTCT	0.353000														19			9		0	0	0.000673	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124232228	124232228	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:124232228C>T	uc001ufr.3	+	13	1928	c.1680C>T	c.(1678-1680)atC>atT	p.I560I		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	560					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TTTTAGGAATCATTCATATGA	0.313000														21			29		0	0	0.005443	0	0
IQSEC3	440073	broad.mit.edu	37	12	266807	266807	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:266807A>G	uc001qhw.2	+	6	2390	c.2390A>G	c.(2389-2391)aAc>aGc	p.N797S	IQSEC3_uc001qhu.1_Missense_Mutation_p.N494S	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	797	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TACAGCCCCAACATCAAGCCT	0.587000														83			30		0	0	0.001706	0	0
PCK1	5105	broad.mit.edu	37	20	56140854	56140854	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:56140854G>A	uc002xyn.4	+	9	2026	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	PCK1_uc010zzm.2_Silent_p.Q304Q	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	621					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GAATAAGCCAGATGTAATCAG	0.473000														22			17		0	0	0.004990	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101572687	101572687	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:101572687C>T	uc003knm.3	-	12	2337	c.2050G>A	c.(2050-2052)Gga>Aga	p.G684R		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	684					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			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)		ATTGCAAATCCATTGAAGAAC	0.308000														16			30		0	0	0.001271	0	0
ATP2B2	491	broad.mit.edu	37	3	10384605	10384605	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:10384605G>A	uc003bvt.3	-	18	3187	c.2748C>T	c.(2746-2748)atC>atT	p.I916I	ATP2B2_uc003bvv.3_Silent_p.I871I|ATP2B2_uc003bvw.3_Silent_p.I871I|ATP2B2_uc010hdo.3_Silent_p.I621I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	916					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACGTGTCCATGATGAGGTTCA	0.647000														85			26		0	0	0.001271	0	0
THSD7A	221981	broad.mit.edu	37	7	11415488	11415488	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:11415488G>A	uc021zzo.1	-	27	5159	c.4907C>T	c.(4906-4908)cCc>cTc	p.P1636L	THSD7A_uc021zzn.1_Missense_Mutation_p.P1634L|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_Missense_Mutation_p.P140L	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1636						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTCTTTGGGGTTTCTTTGG	0.353000										HNSCC(18;0.044)				94			26		0	0	0.001512	0	0
ZNF536	9745	broad.mit.edu	37	19	31039935	31039935	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:31039935G>A	uc002nsu.1	+	3	3547	c.3409G>A	c.(3409-3411)Gga>Aga	p.G1137R	ZNF536_uc010edd.1_Missense_Mutation_p.G1137R	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			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)					GGAGCCTGATGGAAAGGCCCA	0.517000														31			32		0	0	0.002445	0	0
GRB7	2886	broad.mit.edu	37	17	37899515	37899515	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:37899515G>A	uc002hsr.3	+	4	821	c.546G>A	c.(544-546)cgG>cgA	p.R182R	GRB7_uc002hss.3_Silent_p.R182R|GRB7_uc021twu.1_Silent_p.R205R|GRB7_uc010cwc.3_Silent_p.R182R|GRB7_uc002hst.3_Silent_p.R182R	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	182	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCGTCTTCCGGAAAAACTTCG	0.607000														61			19		0	0	0.000958	0	0
TREML3P	340206	broad.mit.edu	37	6	41177423	41177423	+	RNA	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:41177423G>A	uc003oqb.3	-	3		c.450C>T								Homo sapiens triggering receptor expressed on myeloid cells-like 3 (TREML3), non-coding RNA.																		CAGAGACCAGGAGTTTGGGGC	0.592000														8			3		0	0	0.004672	0	0
PTHLH	5744	broad.mit.edu	37	12	28116382	28116382	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:28116382C>T	uc001rik.3	-	2	726	c.423G>A	c.(421-423)cgG>cgA	p.R141R	PTHLH_uc001ril.3_Silent_p.R141R|PTHLH_uc001rim.3_Silent_p.R141R|PTHLH_uc001rin.3_Silent_p.R141R	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	141					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					AGCGAGTTCGCCGTTTTTTCT	0.547000														61			27		0	0	0.001061	0	0
VPS13D	55187	broad.mit.edu	37	1	12337829	12337829	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:12337829C>T	uc001atv.3	+	18	4325	c.4184C>T	c.(4183-4185)cCt>cTt	p.P1395L	VPS13D_uc001atw.3_Missense_Mutation_p.P1395L|VPS13D_uc001atx.3_Missense_Mutation_p.P583L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1395					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCGGGGAGTCCTGAGTTGTTG	0.468000														50			40		0	0	0.001706	0	0
TJP2	9414	broad.mit.edu	37	9	71866098	71866098	+	Missense_Mutation	SNP	C	T	T	rs148629740	by1000genomes	TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:71866098C>T	uc004ahe.3	+	20	3457	c.3139C>T	c.(3139-3141)Cgg>Tgg	p.R1047W	TJP2_uc011lrs.2_Intron|TJP2_uc004ahf.3_Intron|TJP2_uc011lru.2_Missense_Mutation_p.R1014W|TJP2_uc011lrv.2_Missense_Mutation_p.R1078W|TJP2_uc010mom.1_Intron	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	1047					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TACCTTTGGGCGGTCTATACT	0.522000														85			33		0	0	0.004289	0	0
ADCY3	109	broad.mit.edu	37	2	25057470	25057470	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:25057470G>A	uc010ykm.2	-	9	2050	c.1851C>T	c.(1849-1851)gaC>gaT	p.D617D	ADCY3_uc002rfr.4_Silent_p.D250D|ADCY3_uc002rfs.4_Silent_p.D617D	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	617					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCATCTCGGGGTCCATGAACC	0.577000														59			59		0	0	0.003610	0	0
CGNL1	84952	broad.mit.edu	37	15	57810601	57810601	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:57810601G>A	uc010bfw.3	+	10	2814	c.2621G>A	c.(2620-2622)cGa>cAa	p.R874Q	CGNL1_uc002aeg.3_Missense_Mutation_p.R874Q	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	874						myosin complex|tight junction	motor activity	p.R874Q(2)|p.R874*(1)|p.R874R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GGAGAAATACGACAGTTAGAG	0.478000														9			7		0	0	0.004482	0	0
KIAA1804	84451	broad.mit.edu	37	1	233507856	233507856	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:233507856C>T	uc001hvt.4	+	5	1886	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	KIAA1804_uc001hvs.1_Missense_Mutation_p.S542F	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	542					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AGCAGCAGTTCCAGTCCCCCG	0.567000														100			46		0	0	0.003610	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591600	46591601	+	Splice_Site	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:46591600_46591601CC>TT	uc009zkj.1	-	16	1950	c.1265_splice	c.e16-1	p.G422_splice	SLC38A1_uc001rpb.3_Splice_Site_p.G422_splice|SLC38A1_uc001rpc.3_Splice_Site_p.G422_splice|SLC38A1_uc001rpd.3_Splice_Site_p.G422_splice|SLC38A1_uc001rpe.3_Splice_Site_p.G422_splice|SLC38A1_uc001rpa.3_Splice_Site_p.G422_splice	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	422					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGATGTAACTCCTGTAAAATAA	0.347000														38			16		0	0	0.004672	0	0
SAMD12	401474	broad.mit.edu	37	8	119391905	119391905	+	Silent	SNP	G	A	A	rs150265138	byFrequency	TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:119391905G>A	uc003yom.2	-	3	486	c.357C>T	c.(355-357)ctC>ctT	p.L119L	SAMD12_uc010mda.1_Silent_p.L119L|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	119	SAM.							p.L119R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CCATTCGCTCGAGCTTTTTGT	0.463000														158			41		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20970652	20970652	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:20970652C>T	uc010vbe.2	-	53	10675	c.10675G>A	c.(10675-10677)Ggc>Agc	p.G3559S	DNAH3_uc010vbd.2_Missense_Mutation_p.G994S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3559	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAATAGGGCCTTGGCCTTGG	0.537000														72			67		0	0	0.003610	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820351	179820352	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:179820351_179820352GG>AA	uc001gnl.3	-	4	995_996	c.181_182CC>TT	c.(181-183)cca>TTa	p.P61L	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.P61L	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	61						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TGCACTTTCTGGACCTTCTGTC	0.436000														146			34		0	0	0.004672	0	0
SP6	80320	broad.mit.edu	37	17	45925190	45925190	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:45925190C>T	uc002imh.1	-	1	884	c.606G>A	c.(604-606)ctG>ctA	p.L202L	SP6_uc002img.1_Silent_p.L202L|SP6_uc021tzc.1_Silent_p.L202L	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						GGCTGGAATCCAGCCCTTGAG	0.701000														10			10		0	0	0.000443	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662524	662524	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:662524C>T	uc001qii.1	+	13	1435	c.1435C>T	c.(1435-1437)Ctg>Ttg	p.L479L	B4GALNT3_uc001qij.1_Silent_p.L382L|B4GALNT3_uc001qik.1_Silent_p.L28L	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	479						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GCGGAAACTCCTGGCTCAGCC	0.627000														102			58		0	0	0.003610	0	0
WWC1	23286	broad.mit.edu	37	5	167896006	167896006	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:167896006C>T	uc003lzu.3	+	22	3419	c.3326C>T	c.(3325-3327)tCt>tTt	p.S1109F	WWC1_uc003lzv.3_Missense_Mutation_p.S1114F|WWC1_uc011den.2_Missense_Mutation_p.S1115F|WWC1_uc003lzw.3_Missense_Mutation_p.S907F	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	1109	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CCAGCTCTCTCTGCAGATGAC	0.458000														26			41		0	0	0.003214	0	0
SLC4A11	83959	broad.mit.edu	37	20	3208916	3208916	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:3208916C>T	uc010zqe.2	-	18	2801	c.2676G>A	c.(2674-2676)atG>atA	p.M892I	SLC4A11_uc002wig.3_Missense_Mutation_p.M865I|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Missense_Mutation_p.M849I	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	865					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGATGGGGATCATGGCGATCA	0.642000														44			21		0	0	0.001523	0	0
ZNF334	55713	broad.mit.edu	37	20	45131707	45131707	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:45131707C>T	uc002xsa.3	-	3	802	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	ZNF334_uc002xsb.3_Missense_Mutation_p.E53K|ZNF334_uc002xsd.3_Missense_Mutation_p.E53K|ZNF334_uc002xsc.3_Missense_Mutation_p.E91K|ZNF334_uc010ghl.3_Missense_Mutation_p.E90K			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCTTGGATTTCCTTGTTCTTC	0.338000														29			15		0	0	0.002450	0	0
ZNF679	168417	broad.mit.edu	37	7	63727142	63727142	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:63727142G>A	uc003tsx.3	+	4	1400	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATACTGGAGAGGAACCCTACA	0.388000														7			3		0	0	0.000248	0	0
DNAH3	55567	broad.mit.edu	37	16	20974801	20974801	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:20974801C>T	uc010vbe.2	-	52	10405	c.10405G>A	c.(10405-10407)Gga>Aga	p.G3469R	DNAH3_uc010vbd.2_Missense_Mutation_p.G904R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3469					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCTCCAATCCTTGAGAGAAC	0.512000														28			29		0	0	0.001061	0	0
TP63	8626	broad.mit.edu	37	3	189587173	189587173	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:189587173A>G	uc003fry.2	+	8	1279	c.1190A>G	c.(1189-1191)gAt>gGt	p.D397G	TP63_uc003frx.2_Missense_Mutation_p.D397G|TP63_uc003frz.2_Missense_Mutation_p.D397G|TP63_uc010hzc.1_Missense_Mutation_p.D397G|TP63_uc003fsa.2_Missense_Mutation_p.D303G|TP63_uc003fsb.2_Missense_Mutation_p.D303G|TP63_uc003fsc.2_Missense_Mutation_p.D303G|TP63_uc003fsd.2_Missense_Mutation_p.D303G|TP63_uc021xir.1_Missense_Mutation_p.D303G|TP63_uc010hzd.1_Missense_Mutation_p.D218G|TP63_uc003fse.1_Missense_Mutation_p.D274G	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	397	Oligomerization.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGATCCCCAGATGATGAACTG	0.418000										HNSCC(45;0.13)				39			5		0	0	0.001168	0	0
KDM5B	10765	broad.mit.edu	37	1	202731857	202731858	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:202731857_202731858GG>AA	uc009xag.3	-	7	1111_1112	c.995_996CC>TT	c.(994-996)ccc>cTT	p.P332L	KDM5B_uc001gyf.3_Missense_Mutation_p.P296L|KDM5B_uc001gyg.1_Missense_Mutation_p.P138L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	296					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATCGACTCTTGGGCTTTTCCTT	0.386000														208			42		0	0	0.004672	0	0
AOX1	316	broad.mit.edu	37	2	201464374	201464374	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:201464374G>A	uc002uvx.3	+	4	442	c.341G>A	c.(340-342)tGt>tAt	p.C114Y		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	114					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGCACCCAGTGTGGCTTCTGC	0.537000														55			14		0	0	0.004990	0	0
PROKR2	128674	broad.mit.edu	37	20	5282887	5282887	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:5282887G>A	uc010zqw.2	-	1	962	c.954C>T	c.(952-954)gtC>gtT	p.V318V	PROKR2_uc010zqx.2_Silent_p.V318V|PROKR2_uc010zqy.2_Silent_p.V318V	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	318						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGATGCACTCGACCACGTAGA	0.512000										HNSCC(71;0.22)				106			50		0	0	0.003610	0	0
HDLBP	3069	broad.mit.edu	37	2	242189270	242189270	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:242189270G>A	uc002waz.3	-	11	1671	c.1498C>T	c.(1498-1500)Ctt>Ttt	p.L500F	HDLBP_uc002wba.3_Missense_Mutation_p.L500F|HDLBP_uc021vzg.1_Missense_Mutation_p.L467F	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	500	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CGAGATGCAAGCTCCAGCAGC	0.612000														40			11		0	0	0.000673	0	0
CSMD3	114788	broad.mit.edu	37	8	114031326	114031326	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:114031326G>A	uc003ynu.3	-	5	1159	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	CSMD3_uc003ynt.3_Nonsense_Mutation_p.R294*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.R334*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.R334*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	334	CUB 2.					integral to membrane|plasma membrane				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						CCACGGTATCGATGATTGCTG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				52			98		0	0	0.003610	0	0
DOPEY1	23033	broad.mit.edu	37	6	83851761	83851761	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:83851761C>T	uc011dyy.2	+	23	5770	c.5510C>T	c.(5509-5511)aCc>aTc	p.T1837I	DOPEY1_uc003pjs.1_Missense_Mutation_p.T1846I|DOPEY1_uc010kbl.1_Missense_Mutation_p.T1837I|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1846					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACCACCAGGACCAAGGTATGT	0.408000														45			37		0	0	0.001485	0	0
THSD7A	221981	broad.mit.edu	37	7	11513999	11513999	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:11513999G>A	uc021zzo.1	-	7	2466	c.2214C>T	c.(2212-2214)atC>atT	p.I738I	THSD7A_uc021zzn.1_Silent_p.I738I	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	738	TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTCGCACACAGATGACTTTTC	0.507000										HNSCC(18;0.044)				56			60		0	0	0.003610	0	0
SIK1	150094	broad.mit.edu	37	21	44841138	44841138	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr21:44841138G>A	uc002zdf.2	-	5	736	c.609C>T	c.(607-609)ccC>ccT	p.P203P		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	203	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TGTCCAGCTGGGGGCCTTCAT	0.672000														48			22		0	0	0.001882	0	0
NCAPG	64151	broad.mit.edu	37	4	17812717	17812717	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:17812717G>A	uc003gpp.3	+	0	193	c.17G>A	c.(16-18)aGg>aAg	p.R6K	NCAPG_uc011bxj.2_5'UTR|DCAF16_uc003gpn.3_5'Flank	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	6					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GCGGAAAGGAGGCTGCTGTCG	0.682000														1			4		0	0	0.000602	0	0
ARPP21	10777	broad.mit.edu	37	3	35725273	35725273	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:35725273C>T	uc011axy.2	+	3	439	c.227C>T	c.(226-228)tCt>tTt	p.S76F	ARPP21_uc003cga.3_Missense_Mutation_p.S76F|ARPP21_uc003cgb.3_Missense_Mutation_p.S76F|ARPP21_uc003cfz.3_Non-coding_Transcript|ARPP21_uc003cgc.3_Missense_Mutation_p.S76F|ARPP21_uc003cgd.3_Missense_Mutation_p.S76F|ARPP21_uc011axx.2_Missense_Mutation_p.S76F|ARPP21_uc003cge.3_Missense_Mutation_p.S76F	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	76						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GAGGAATCTTCTGCCAGACCA	0.448000														6			5		0	0	0.000602	0	0
SNHG12	85028	broad.mit.edu	37	1	28905159	28905160	+	RNA	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:28905159_28905160GG>AA	uc001bqk.3	-	5		c.629_630CC>TT			SNHG12_uc001bql.3_Non-coding_Transcript|SNHG12_uc001bqm.3_Non-coding_Transcript|SNHG12_uc001bqn.3_Non-coding_Transcript|SNHG12_uc001bqo.3_Non-coding_Transcript					Homo sapiens small nucleolar RNA host gene 12 (non-protein coding) (SNHG12), non-coding RNA.																		AAAATGACCGGGGTCCTTGCCT	0.411000														46			22		0	0	0.004672	0	0
NPY2R	4887	broad.mit.edu	37	4	156135355	156135355	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:156135355C>T	uc003ioq.3	+	1	753	c.264C>T	c.(262-264)ttC>ttT	p.F88F	NPY2R_uc003ior.3_Silent_p.F88F|NPY2R_uc021xtm.1_Silent_p.F88F	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	88					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAACTTTTTCATTGCCAATC	0.473000														43			24		0	0	0.002780	0	0
APOB	338	broad.mit.edu	37	2	21235191	21235191	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:21235191C>T	uc002red.3	-	25	4677	c.4549G>A	c.(4549-4551)Gag>Aag	p.E1517K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1517					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGGTTGGACTCTCCATTGAGC	0.498000														322			92		0	0	0.003610	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534887	96534887	+	Missense_Mutation	SNP	G	A	A	rs149072229		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:96534887G>A	uc010qnz.2	+	1	241	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.E59K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	81					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GCATGGATATGAAGTGGTGAA	0.468000														78			66		0	0	0.003610	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751304	162751304	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:162751304G>A	uc002ubx.4	+	10	1494	c.1310G>A	c.(1309-1311)cGa>cAa	p.R437Q	SLC4A10_uc010fpa.1_Missense_Mutation_p.R449Q|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.R418Q|SLC4A10_uc002uby.4_Missense_Mutation_p.R407Q	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	437					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCAAGCATTCGAATAGAGCCT	0.353000														38			11		0	0	0.002450	0	0
SSX3	10214	broad.mit.edu	37	X	48211544	48211544	+	Silent	SNP	G	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chrX:48211544G>T	uc004djd.1	-	4	415	c.321C>A	c.(319-321)atC>atA	p.I107I	SSX3_uc004dje.3_Silent_p.I107I|SSX3_uc010nic.3_Silent_p.I107I	NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCTTCGGGAAGATTCCCTGGA	0.443000														30			67		1.94393e-27	3.77291e-27	0.003610	1	0
PRMT10	90826	broad.mit.edu	37	4	148601580	148601580	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:148601580C>T	uc003ilc.3	-	1	374	c.232G>A	c.(232-234)Gat>Aat	p.D78N	PRMT10_uc003ild.3_Intron	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	78						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CTGAGAGCATCAAGCTCTTCA	0.363000														33			15		0	0	0.004007	0	0
KCNMA1	3778	broad.mit.edu	37	10	79163678	79163678	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:79163678G>A	uc001jxn.3	-	1	659	c.482C>T	c.(481-483)tCc>tTc	p.S161F	KCNMA1_uc021ptu.1_Intron|KCNMA1_uc001jxj.2_Missense_Mutation_p.S161F|KCNMA1_uc001jxo.3_Missense_Mutation_p.S161F|KCNMA1_uc001jxm.3_Missense_Mutation_p.S161F|KCNMA1_uc001jxq.3_Missense_Mutation_p.S161F	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	161					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GTCCTTCACGGAGGTCATCCA	0.592000														17			24		0	0	0.003954	0	0
VPS13A	23230	broad.mit.edu	37	9	79908348	79908348	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:79908348T>G	uc004akr.3	+	31	3691	c.3431T>G	c.(3430-3432)gTg>gGg	p.V1144G	VPS13A_uc004akp.4_Missense_Mutation_p.V1144G|VPS13A_uc004akq.4_Missense_Mutation_p.V1144G|VPS13A_uc004aks.3_Missense_Mutation_p.V1105G|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1144					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATATGAATGTGGTTGACATT	0.299000														65			27		0	0	0.001271	0	0
SH3TC1	54436	broad.mit.edu	37	4	8228805	8228805	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:8228805G>A	uc003gkv.4	+	11	1485	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	SH3TC1_uc003gkw.4_Missense_Mutation_p.E386K|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	462							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTGCCCCCAGGAGCCAGCGTC	0.607000														40			11		0	0	0.000978	0	0
ADH1C	126	broad.mit.edu	37	4	100260761	100260761	+	RNA	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:100260761C>T	uc021xqi.1	-	7		c.1161G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGGTCAAATCCTTCATTTAT	0.393000														25			18		0	0	0.004990	0	0
TRBV9	28586	broad.mit.edu	37	7	142239828	142239828	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:142239828G>A	uc011ksd.2	-	1	63	c.52C>T	c.(52-54)Cca>Tca	p.P18S	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TRBV9_uc022ann.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GAATCCACTGGGCCTGTGTGT	0.512000														53			19		0	0	0.001523	0	0
CHSY3	337876	broad.mit.edu	37	5	129520634	129520634	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:129520634C>T	uc003kvd.3	+	2	1799	c.1799C>T	c.(1798-1800)tCt>tTt	p.S600F		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	600						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATATCTAATTCTTTAAAGATA	0.383000														3			13		0	0	0.001368	0	0
COL19A1	1310	broad.mit.edu	37	6	70871825	70871825	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:70871825C>T	uc003pfc.1	+	34	2443	c.2326C>T	c.(2326-2328)Cca>Tca	p.P776S	COL19A1_uc010kam.2_Missense_Mutation_p.P672S	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	776	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCAGGTGCTCCAGGCCCGAC	0.408000														58			36		0	0	0.002222	0	0
HRASLS	57110	broad.mit.edu	37	3	192973467	192973467	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:192973467A>T	uc003fta.3	+	1	433	c.28A>T	c.(28-30)Aac>Tac	p.N10Y		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	Homo sapiens HRAS-like suppressor (HRASLS), mRNA.	10										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		CTTCAGTTTGAACTACCCTGG	0.443000														96			7		0	0	0.001984	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795148	142795148	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chrX:142795148C>T	uc004fbz.3	-	1	1284	c.530G>A	c.(529-531)gGt>gAt	p.G177D		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	177										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTCCCCACCCTCCTGTGA	0.473000														55			157		0	0	0.003610	0	0
MYOM3	127294	broad.mit.edu	37	1	24419474	24419474	+	Silent	SNP	G	A	A	rs143871016		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:24419474G>A	uc001bin.4	-	9	1216	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	MYOM3_uc001bim.4_Silent_p.F8F|MYOM3_uc001bio.3_Silent_p.F351F|MYOM3_uc001bip.1_Silent_p.F8F	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	351	Ig-like C2-type 2.							p.F351F(2)|p.P350L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCCGGGGTCCGAAGGGCGAGG	0.642000														23			16		0	0	0.003163	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110519966	110519966	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:110519966G>A	uc003yne.3	+	68	11173	c.11069G>A	c.(11068-11070)gGc>gAc	p.G3690D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3690					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACATAGATGGCTCCTTTCTG	0.423000										HNSCC(38;0.096)				36			56		0	0	0.003610	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661316	35661316	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:35661316C>T	uc003anl.3	+	4	1109	c.935C>T	c.(934-936)tCt>tTt	p.S312F	HMGXB4_uc011amh.1_Missense_Mutation_p.S203F|HMGXB4_uc003ank.3_Missense_Mutation_p.S203F	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	312					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATAGATGATTCTTACCGAGAA	0.423000														58			22		0	0	0.003330	0	0
GREB1	9687	broad.mit.edu	37	2	11758601	11758601	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:11758601C>T	uc002rbk.1	+	21	3900	c.3600C>T	c.(3598-3600)ccC>ccT	p.P1200P	GREB1_uc002rbp.1_Silent_p.P198P	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1200	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGCCCCAGCCCGACTGTAGCC	0.692000														13			5		0	0	0.000602	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736577	26736577	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:26736577G>A	uc003acb.3	+	9	2387	c.2191G>A	c.(2191-2193)Gga>Aga	p.G731R	SEZ6L_uc003acd.3_Missense_Mutation_p.G731R|SEZ6L_uc011akd.2_Missense_Mutation_p.G731R|SEZ6L_uc003ace.3_Missense_Mutation_p.G731R|SEZ6L_uc011akc.2_Missense_Mutation_p.G731R|SEZ6L_uc003acc.3_Missense_Mutation_p.G731R|SEZ6L_uc003acf.1_Missense_Mutation_p.G504R|SEZ6L_uc010gvc.1_Missense_Mutation_p.G504R	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	731	CUB 3.					endoplasmic reticulum membrane|integral to membrane		p.G731E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AAAGGGCCAGGGATTTATCAT	0.463000														60			19		0	0	0.001882	0	0
FAM108A1	81926	broad.mit.edu	37	19	1881347	1881347	+	Silent	SNP	A	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:1881347A>G	uc002luf.3	-	1	625	c.219T>C	c.(217-219)cgT>cgC	p.R73R	FAM108A1_uc002lud.3_Silent_p.R73R|FAM108A1_uc002lue.3_Silent_p.R73R|FAM108A1_uc002lug.3_Silent_p.R73R	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	73						extracellular region	hydrolase activity			endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		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)		GGAAGTCGGCACGCTCCGTCA	0.716000														60			4		0	0	0.001168	0	0
MDM4	4194	broad.mit.edu	37	1	204501329	204501329	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:204501329G>A	uc001hba.3	+	4	464	c.298G>A	c.(298-300)Gat>Aat	p.D100N	MDM4_uc001hbd.2_Non-coding_Transcript|MDM4_uc010pqw.2_Non-coding_Transcript|MDM4_uc010pqx.2_5'UTR|MDM4_uc001hay.2_Missense_Mutation_p.D100N|MDM4_uc021phx.1_Intron|MDM4_uc001hbb.3_5'UTR|MDM4_uc010pqy.2_Non-coding_Transcript|MDM4_uc001hbc.3_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript	NM_002393	NP_002384	O15151	MDM4_HUMAN	Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA.	100	SWIB.				G0 to G1 transition|apoptosis|cell proliferation|cellular response to hypoxia|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCCTCTCTATGATATGCTAAG	0.368000			A		"""GBM, bladder, retinoblastoma"""									87			26		0	0	0.001061	0	0
ARSA	410	broad.mit.edu	37	22	51065636	51065636	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:51065636C>T	uc003bna.4	-	1	427	c.165G>A	c.(163-165)caG>caA	p.Q55Q	ARSA_uc021wsd.1_Silent_p.Q141Q|ARSA_uc021wse.1_Silent_p.Q141Q|ARSA_uc021wsf.1_Silent_p.Q141Q|ARSA_uc003bmz.4_Silent_p.Q139Q|ARSA_uc010hbf.3_Silent_p.Q139Q	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	139						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GATGGAAGCCCTGATGGGGGG	0.672000														44			9		0	0	0.004482	0	0
SMARCC2	6601	broad.mit.edu	37	12	56565503	56565503	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:56565503G>A	uc001skb.3	-	19	2158	c.2052C>T	c.(2050-2052)gtC>gtT	p.V684V	SMARCC2_uc001skd.3_Silent_p.V715V|SMARCC2_uc001ska.3_Silent_p.V715V|SMARCC2_uc001skc.3_Silent_p.V714V|SMARCC2_uc010sqf.2_Silent_p.V604V	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	684					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTCGGGGATCGACGACAGAGG	0.582000														84			51		0	0	0.003610	0	0
AP1B1	162	broad.mit.edu	37	22	29727844	29727844	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:29727844C>T	uc003afj.3	-	17	2558	c.2371G>A	c.(2371-2373)Gtg>Atg	p.V791M	AP1B1_uc003afl.3_Missense_Mutation_p.V764M|AP1B1_uc003afi.3_Missense_Mutation_p.V784M|AP1B1_uc003afh.3_5'UTR|AP1B1_uc011ako.2_Missense_Mutation_p.V344M	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	791					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAGATCTCCACTGTCTGGTTG	0.672000														64			24		0	0	0.002780	0	0
RP1L1	94137	broad.mit.edu	37	8	10469740	10469740	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:10469740C>T	uc003wtc.3	-	3	2097	c.1868G>A	c.(1867-1869)gGa>gAa	p.G623E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	623					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGAAGAGGCTCCTTCCGAGTC	0.647000														23			87		0	0	0.003610	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114192019	114192019	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:114192019G>A	uc001kzv.3	-	9	1541	c.1117C>T	c.(1117-1119)Ctt>Ttt	p.L373F	ZDHHC6_uc001kzw.3_Missense_Mutation_p.L369F	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA.	373						integral to membrane	acyltransferase activity|zinc ion binding	p.L373I(2)		endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GAATCATCAAGAATTTTGTCT	0.269000														28			13		0	0	0.003163	0	0
NCR1	9437	broad.mit.edu	37	19	55420724	55420724	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:55420724G>A	uc002qib.2	+	3	514	c.476G>A	c.(475-477)gGa>gAa	p.G159E	NCR1_uc002qic.2_Missense_Mutation_p.G159E|NCR1_uc002qie.2_Missense_Mutation_p.G159E|NCR1_uc002qid.2_Missense_Mutation_p.G64E|NCR1_uc002qif.2_Missense_Mutation_p.G64E|NCR1_uc010esj.2_Missense_Mutation_p.G52E	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	159	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CTCAAGGAGGGAAGATCCAGC	0.582000														46			38		0	0	0.001485	0	0
PUS7	54517	broad.mit.edu	37	7	105099683	105099683	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:105099683G>A	uc010lji.3	-	14	1807	c.1799C>T	c.(1798-1800)cCc>cTc	p.P600L	PUS7_uc003vcx.3_Missense_Mutation_p.P594L|PUS7_uc003vcy.3_Missense_Mutation_p.P594L|PUS7_uc003vcz.1_Missense_Mutation_p.P594L	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	594					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TGGAATTTTGGGATCATCATA	0.373000														59			37		0	0	0.001951	0	0
POM121L12	285877	broad.mit.edu	37	7	53103403	53103403	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:53103403G>A	uc003tpz.3	+	0	55	c.39G>A	c.(37-39)ggG>ggA	p.G13G		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	13										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGACCTCGGGAACTTCTGGA	0.701000														17			13		0	0	0.001368	0	0
LAMA5	3911	broad.mit.edu	37	20	60886750	60886750	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:60886750C>T	uc002ycq.3	-	70	9793	c.9726G>A	c.(9724-9726)ccG>ccA	p.P3242P	LAMA5_uc021wfw.1_Silent_p.P3242P	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3242	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGGAGCCTCGGGGGCCCCT	0.667000														7			4		0	0	0.001984	0	0
CA8	767	broad.mit.edu	37	8	61121309	61121309	+	Splice_Site	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:61121309C>T	uc003xtz.1	-	8	1156	c.908_splice	c.e8+1		CA8_uc003xua.1_3'UTR	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.						one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CTGGACATACCCTCATGAAGA	0.428000														58			67		0	0	0.003610	0	0
DYSF	8291	broad.mit.edu	37	2	71825792	71825792	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:71825792G>A	uc010fen.3	+	32	3814	c.3673G>A	c.(3673-3675)Gag>Aag	p.E1225K	DYSF_uc010fei.3_Missense_Mutation_p.E1224K|DYSF_uc010feh.3_Missense_Mutation_p.E1193K|DYSF_uc002sig.4_Missense_Mutation_p.E1193K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.E1238K|DYSF_uc010fee.3_Missense_Mutation_p.E1207K|DYSF_uc010fef.3_Missense_Mutation_p.E1224K|DYSF_uc002sie.3_Missense_Mutation_p.E1207K|DYSF_uc010feo.3_Missense_Mutation_p.E1239K|DYSF_uc010fej.3_Missense_Mutation_p.E1194K|DYSF_uc010fel.3_Missense_Mutation_p.E1194K|DYSF_uc010fem.3_Missense_Mutation_p.E1208K|DYSF_uc002sif.3_Missense_Mutation_p.E1208K|DYSF_uc010fek.3_Missense_Mutation_p.E1225K|DYSF_uc010yqy.2_Missense_Mutation_p.E88K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1207	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATCTTCTACGAGATCGAGAT	0.567000														58			19		0	0	0.000958	0	0
GDF2	2658	broad.mit.edu	37	10	48413677	48413677	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:48413677T>A	uc001jfa.1	-	1	1351	c.1191A>T	c.(1189-1191)aaA>aaT	p.K397N		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	397					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TGGGGCTCAGTTTGGTGGGCA	0.587000														14			19		0	0	0.006122	0	0
SP7	121340	broad.mit.edu	37	12	53721980	53721980	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:53721980C>T	uc001sct.3	-	1	1353	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	SP7_uc001scv.3_Missense_Mutation_p.E416K|SP7_uc001scu.3_Missense_Mutation_p.E398K	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGGGCTTTCTCTGGGGTTGCT	0.677000											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			16		0	0	0.003163	0	0
ITGB1	3688	broad.mit.edu	37	10	33217122	33217122	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:33217122C>A	uc001iws.4	-	4	583	c.447G>T	c.(445-447)atG>atT	p.M149I	ITGB1_uc001iwr.4_Missense_Mutation_p.M149I|ITGB1_uc001iwt.4_Missense_Mutation_p.M149I	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	149	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	p.M149V(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				AAGACAGGTCCATAAGGTAGT	0.373000														28			64		4.60343e-24	8.91863e-24	0.003610	1	0
SIL1	64374	broad.mit.edu	37	5	138356955	138356955	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:138356955G>A	uc003ldo.3	-	7	878	c.672C>T	c.(670-672)tcC>tcT	p.S224S	SIL1_uc003ldp.3_Silent_p.S224S|SIL1_uc003ldq.1_Silent_p.S17S	NM_001037633	NP_071909	Q9H173	SIL1_HUMAN	Homo sapiens SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1), transcript variant 1, mRNA.	224	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACCACCAAAGGAAAGCAGGT	0.527000									Marinesco-Sjgren syndrome					16			23		0	0	0.003954	0	0
SOX9	6662	broad.mit.edu	37	17	70119866	70119866	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:70119866G>A	uc002jiw.3	+	2	1240	c.868G>A	c.(868-870)Gat>Aat	p.D290N	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	290					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding	p.D290fs*6(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CGAGACCTTCGATGTCAACGA	0.662000														49			19		0	0	0.001523	0	0
SEC16B	89866	broad.mit.edu	37	1	177899741	177899741	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:177899741A>C	uc001glj.1	-	29	3919	c.3053T>G	c.(3052-3054)cTt>cGt	p.L1018R	SEC16B_uc001glk.1_Missense_Mutation_p.L694R|SEC16B_uc009wwy.1_Missense_Mutation_p.F536V|SEC16B_uc001glh.1_Missense_Mutation_p.L677R|SEC16B_uc001gli.1_Missense_Mutation_p.L1017R|SEC16B_uc009wwz.1_Missense_Mutation_p.L676R	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	1017					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGAGGAAGAAGAACACCAGG	0.542000														25			25		0	0	0.004656	0	0
RPRD2	23248	broad.mit.edu	37	1	150429863	150429863	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:150429863C>T	uc009wlr.3	+	7	1171	c.970C>T	c.(970-972)Cca>Tca	p.P324S	RPRD2_uc010pcc.1_Missense_Mutation_p.P298S|RPRD2_uc001eup.4_Missense_Mutation_p.P298S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	324							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGTTCCTTCCCCAAGCATGGA	0.473000														124			115		0	0	0.003610	0	0
ANKRD11	29123	broad.mit.edu	37	16	89345485	89345485	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:89345485G>A	uc002fmx.1	-	8	7926	c.7465C>T	c.(7465-7467)Ccc>Tcc	p.P2489S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P2489S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P2489S|ANKRD11_uc002fna.1_Missense_Mutation_p.P154S|ANKRD11_uc002fnb.1_Missense_Mutation_p.P2446S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2489						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCACCACGGGGATGTGGAGC	0.667000														12			8		0	0	0.004482	0	0
ENAH	55740	broad.mit.edu	37	1	225707031	225707031	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:225707031C>A	uc001hpc.1	-	4	1124	c.671G>T	c.(670-672)cGg>cTg	p.R224L	ENAH_uc021pju.1_Missense_Mutation_p.R211L|ENAH_uc001hpd.1_Missense_Mutation_p.R224L	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	224					T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTGCCTCTCCCGATCCAGGcg	0.597000														183			7		0.00198382	0.00380261	0.001984	1	0
SERPINB3	6317	broad.mit.edu	37	18	61326656	61326656	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr18:61326656C>T	uc002lji.3	-	3	472	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	SERPINB3_uc002ljg.3_Missense_Mutation_p.E110K|SERPINB3_uc010dqa.3_Missense_Mutation_p.E110K|SERPINB3_uc010dqb.3_Missense_Mutation_p.E110K	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	110					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.G109V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TACGTTTTTTCTCCGAAGAGC	0.413000														65			30		0	0	0.003271	0	0
ZNF835	90485	broad.mit.edu	37	19	57176307	57176307	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:57176307C>T	uc010ygn.2	-	1	487	c.260G>A	c.(259-261)gGg>gAg	p.G87E		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGGGCTCTCCCCAGGCGCGCT	0.647000														44			19		0	0	0.001216	0	0
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:12187475C>G	uc002mtb.2	+	3	1683	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_uc010dym.1_Missense_Mutation_p.H357D	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H514D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408000														37			3		0	0	0.004672	0	0
MEIS2	4212	broad.mit.edu	37	15	37184583	37184583	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:37184583G>A	uc001zjr.3	-	11	2299	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	MEIS2_uc001zjl.3_3'UTR|MEIS2_uc010ucj.2_Missense_Mutation_p.P389S|MEIS2_uc001zjm.3_3'UTR|MEIS2_uc001zjn.3_3'UTR|MEIS2_uc001zjo.3_3'UTR|MEIS2_uc001zjp.3_3'UTR|MEIS2_uc001zjs.3_Missense_Mutation_p.P402S|MEIS2_uc001zju.3_3'UTR|MEIS2_uc001zjt.3_Missense_Mutation_p.P402S|MEIS2_uc001zjj.3_Missense_Mutation_p.P105S|MEIS2_uc001zjk.3_Missense_Mutation_p.P98S	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	409					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		ATCTGGGGAGGAGTGTAACTT	0.512000														84			124		0	0	0.003610	0	0
FAM71B	153745	broad.mit.edu	37	5	156589596	156589596	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:156589596G>A	uc003lwn.3	-	1	1780	c.1680C>T	c.(1678-1680)atC>atT	p.I560I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	560						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTAGCCACGATATCTACCT	0.483000														280			593		0	0	0.003610	0	0
CDHR5	53841	broad.mit.edu	37	11	618706	618706	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:618706C>T	uc001lql.3	-	12	2120	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.G618E|CDHR5_uc009ycd.3_Missense_Mutation_p.G612E|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Missense_Mutation_p.G452E	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	618	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTGCTGGTTCCCATACCGGG	0.657000														63			58		0	0	0.003610	0	0
CNOT1	23019	broad.mit.edu	37	16	58622709	58622709	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:58622709G>A	uc002env.3	-	2	497	c.204C>T	c.(202-204)ttC>ttT	p.F68F	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.F68F|CNOT1_uc002enx.3_Silent_p.F68F|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	68					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATACCTGATGGAAATCTTTGC	0.423000														6			8		0	0	0.000443	0	0
MGC16703	113691	broad.mit.edu	37	22	21363718	21363718	+	RNA	SNP	C	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:21363718C>G	uc002zty.4	-	2		c.738G>C			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		ATGAGGAAGCCCTGCAGTCCC	0.597000														19			10		0	0	0.001368	0	0
BAI3	577	broad.mit.edu	37	6	70070763	70070763	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:70070763C>T	uc010kak.3	+	27	3874	c.3598C>T	c.(3598-3600)Ctt>Ttt	p.L1200F	BAI3_uc003pev.4_Missense_Mutation_p.L1200F|BAI3_uc011dxx.2_Missense_Mutation_p.L406F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1200					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V1199L(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTCACAGTTCTTCATAAGGA	0.338000														33			9		0	0	0.004482	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713741	30713741	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:30713741C>T	uc003ceo.3	+	3	1448	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	TGFBR2_uc021wut.1_Missense_Mutation_p.R234W|TGFBR2_uc003cen.3_Missense_Mutation_p.R381W	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	356	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R356fs*9(2)|p.R356Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CTCCCTCGCCCGGGGGATTGC	0.607000														115			45		0	0	0.003214	0	0
EFNB1	1947	broad.mit.edu	37	X	68060377	68060377	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chrX:68060377G>A	uc004dxe.2	+	4	1701	c.921G>A	c.(919-921)cgG>cgA	p.R307R	EFNB1_uc004dxd.4_Silent_p.R307R	NM_004429	NP_004420	P98172	EFNB1_HUMAN	Homo sapiens ephrin-B1 (EFNB1), mRNA.	307					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TTCCCTTACGGACTACAGAGA	0.637000														8			17		0	0	0.000958	0	0
IGDCC4	57722	broad.mit.edu	37	15	65688237	65688237	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:65688237G>A	uc002aou.1	-	6	1472	c.1262C>T	c.(1261-1263)gCc>gTc	p.A421V	IGDCC4_uc002aot.1_Missense_Mutation_p.A9V	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	421	Ig-like C2-type 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CACCACCACGGCCAGCGACGC	0.706000														6			15		0	0	0.003163	0	0
DPY19L3	147991	broad.mit.edu	37	19	32971433	32971434	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:32971433_32971434CC>TT	uc002ntg.3	+	17	2157_2158	c.1959_1960CC>TT	c.(1957-1962)ctccgg>ctTTgg	p.R654W	DPY19L3_uc002nth.2_Missense_Mutation_p.R654W|DPY19L3_uc002nti.2_Non-coding_Transcript|DPY19L3_uc002ntj.2_Missense_Mutation_p.R76W	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	654						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GCTGCCGACTCCGGGACCTGCT	0.609000														44			30		0	0	0.004672	0	0
CPNE3	8895	broad.mit.edu	37	8	87567208	87567208	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:87567208C>T	uc003ydv.2	+	14	1412	c.1250C>T	c.(1249-1251)gCt>gTt	p.A417V	CPNE3_uc003ydw.1_Missense_Mutation_p.A133V	NM_003909	NP_003900	O75131	CPNE3_HUMAN	Homo sapiens copine III (CPNE3), mRNA.	417	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGCAGACAGCTTCTGTAAGT	0.438000														91			28		0	0	0.001512	0	0
PXDNL	137902	broad.mit.edu	37	8	52339266	52339266	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:52339266C>T	uc003xqu.4	-	12	1679	c.1578G>A	c.(1576-1578)aaG>aaA	p.K526K		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	526	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTTTATATTCTTTCCAACCT	0.338000														32			12		0	0	0.001855	0	0
POLR3A	11128	broad.mit.edu	37	10	79762037	79762037	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:79762037G>A	uc001jzn.3	-	16	2410	c.2277C>T	c.(2275-2277)atC>atT	p.I759I		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	759					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CGTGGTCACGGATCACAGACA	0.552000														1			7		0	0	0.001984	0	0
DSP	1832	broad.mit.edu	37	6	7580622	7580622	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:7580622G>A	uc003mxp.1	+	22	4478	c.4199G>A	c.(4198-4200)cGa>cAa	p.R1400Q	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1400	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATCTCACCCGAGAAAACAGG	0.493000														71			26		0	0	0.003954	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303507	151303507	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chrX:151303507G>A	uc022cgz.1	-	0	586	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.P196S|MAGEA10_uc004ffm.2_Missense_Mutation_p.P196S|MAGEA10_uc004ffl.3_Missense_Mutation_p.P196S	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	196	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGTGGGATCCACTTCC	0.493000														12			38		0	0	0.005524	0	0
C1orf127	148345	broad.mit.edu	37	1	11017747	11017747	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:11017747C>A	uc010oao.2	-	6	619	c.619G>T	c.(619-621)Gga>Tga	p.G207*	C1orf127_uc001ars.2_Nonsense_Mutation_p.G68*|C1orf127_uc001arr.2_Nonsense_Mutation_p.G68*	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	58										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACATACAGTCCCATCAGGCTG	0.582000														79			40		4.32679e-17	8.35279e-17	0.001485	1	0
DMBT1	1755	broad.mit.edu	37	10	124399828	124399828	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:124399828G>A	uc001lgk.1	+	51	6934	c.6828G>A	c.(6826-6828)gtG>gtA	p.V2276V	DMBT1_uc001lgl.1_Silent_p.V2266V|DMBT1_uc001lgm.1_Silent_p.V1648V|DMBT1_uc021qaf.1_Silent_p.V2276V|DMBT1_uc021qag.1_Silent_p.V2266V|DMBT1_uc021qah.1_Silent_p.V1648V|DMBT1_uc009xzz.1_Silent_p.V2275V|DMBT1_uc010qtx.1_Silent_p.V996V|DMBT1_uc009yab.1_Silent_p.V979V|DMBT1_uc009yac.1_Silent_p.V570V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2276	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTTACTACGTGGACCTGAACC	0.478000														64			53		0	0	0.003610	0	0
N4BP1	9683	broad.mit.edu	37	16	48587558	48587558	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:48587558A>G	uc002efp.3	-	2	2149	c.1912T>C	c.(1912-1914)Tct>Cct	p.S638P		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	638					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CCACGACAAGAAAAGAACTTT	0.343000														1			9		0	0	0.000673	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460463	1460463	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:1460463G>A	uc002wfg.2	-	1	561	c.333C>T	c.(331-333)tcC>tcT	p.S111S	SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_Intron	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	111	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGATATAGATGGAATAATCAC	0.448000														73			29		0	0	0.001271	0	0
SPRR3	6707	broad.mit.edu	37	1	152975753	152975753	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:152975753C>T	uc021ozo.1	+	0	257	c.257C>T	c.(256-258)cCt>cTt	p.P86L	SPRR3_uc001fax.4_Missense_Mutation_p.P86L|SPRR3_uc001faz.4_Missense_Mutation_p.P86L|SPRR3_uc001fay.2_Missense_Mutation_p.P78L	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	86	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.V85I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCAAGGTCCCTGAGCCAGGC	0.602000														68			13		0	0	0.001855	0	0
PILRB	29990	broad.mit.edu	37	7	99956403	99956404	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:99956403_99956404CC>TT	uc022aim.1	+	6	1227_1228	c.155_156CC>TT	c.(154-156)ccc>cTT	p.P52L	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Missense_Mutation_p.P52L	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	52	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGGAAATCCCCTTCTCCTTCT	0.545000														28			20		0	0	0.004672	0	0
FYN	2534	broad.mit.edu	37	6	112035566	112035566	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:112035566G>T	uc003pvj.3	-	3	668	c.328C>A	c.(328-330)Caa>Aaa	p.Q110K	FYN_uc003pvi.3_Missense_Mutation_p.Q110K|FYN_uc003pvk.3_Missense_Mutation_p.Q110K|FYN_uc003pvh.3_Missense_Mutation_p.Q110K	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	110	SH3.				T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAATATTTGAAATTTTTCT	0.438000														12			19		1.15919e-05	2.22588e-05	0.001216	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140719847	140719847	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:140719847C>T	uc003ljk.2	+	0	1494	c.1309C>T	c.(1309-1311)Cac>Tac	p.H437Y	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.H437Y	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	439	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGATGCTCACATTTTGCT	0.532000														26			39		0	0	0.001287	0	0
CBL	867	broad.mit.edu	37	11	119145646	119145646	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:119145646C>T	uc001pwe.3	+	4	990	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	284	Cbl-PTB.|SH2-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCAGAAATTCATTCACAAAC	0.423000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					25			35		0	0	0.004878	0	0
FETUB	26998	broad.mit.edu	37	3	186370148	186370148	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:186370148G>A	uc010hyq.3	+	7	1138	c.877G>A	c.(877-879)Gac>Aac	p.D293N	FETUB_uc011brz.2_Missense_Mutation_p.D145N|FETUB_uc003fqn.3_Missense_Mutation_p.D293N|FETUB_uc010hyr.3_Missense_Mutation_p.D256N|FETUB_uc010hys.3_Missense_Mutation_p.D145N|FETUB_uc003fqp.4_Missense_Mutation_p.D228N	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	293						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CCCCCCAACAGACTCCCCCTC	0.512000														109			43		0	0	0.003610	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868369	31868370	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:31868369_31868370GG>AA	uc003nyd.1	-	1	889_890	c.713_714CC>TT	c.(712-714)tcc>tTT	p.S238F	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Missense_Mutation_p.S238F|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	238	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GGCCACCCACGGAGCCTCCAAT	0.663000														327			127		0	0	0.004672	0	0
KIF24	347240	broad.mit.edu	37	9	34254447	34254447	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:34254447C>T	uc003zua.4	-	12	4158	c.4038G>A	c.(4036-4038)agG>agA	p.R1346R	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	1346					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GCAGCTGGCTCCTCAGACTCT	0.552000														53			22		0	0	0.001523	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043176	71043176	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:71043176T>C	uc002shf.3	-	3	1414	c.1337A>G	c.(1336-1338)aAg>aGg	p.K446R	CLEC4F_uc010yqv.1_Missense_Mutation_p.K446R	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	446					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ATGGAGGGTCTTCAGGCGACT	0.522000														47			38		0	0	0.002522	0	0
MYT1	4661	broad.mit.edu	37	20	62838983	62838983	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:62838983C>T	uc002yii.3	+	6	798	c.434C>T	c.(433-435)cCc>cTc	p.P145L	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	145					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGATCCAACCCCATCGGCAGC	0.557000														94			41		0	0	0.002222	0	0
PDE6B	5158	broad.mit.edu	37	4	619805	619805	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:619805C>T	uc003gap.3	+	0	443	c.390C>T	c.(388-390)atC>atT	p.I130I	PDE6B_uc003gao.4_Silent_p.I130I	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	130	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ACTCCGAGATCGTCTTCCCAC	0.667000														15			7		0	0	0.004482	0	0
ACPT	93650	broad.mit.edu	37	19	51298160	51298160	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:51298160G>A	uc002pta.1	+	9	1104	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	Homo sapiens acid phosphatase, testicular (ACPT), mRNA.	368						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGACTGCCCCGGCCCGGCCTC	0.692000														205			37		0	0	0.004289	0	0
LILRB1	10859	broad.mit.edu	37	19	55143159	55143159	+	Silent	SNP	A	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:55143159A>G	uc002qgj.3	+	4	619	c.279A>G	c.(277-279)gcA>gcG	p.A93A	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.A93A|LILRB1_uc002qgk.3_Silent_p.A93A|LILRB1_uc002qgm.3_Silent_p.A93A|LILRB1_uc010erq.3_Silent_p.A93A|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	93	Ig-like C2-type 1.		A -> T (in dbSNP:rs12460501).		regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGGAACATGCAGGGCGGTATC	0.552000										HNSCC(37;0.09)				67			32		0	0	0.002445	0	0
ATF6	22926	broad.mit.edu	37	1	161816269	161816269	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:161816269C>T	uc001gbs.3	+	9	1335	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	ATF6_uc001gbq.2_Silent_p.N406N	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	406					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GGAGAATGAACCCTAGTGTGA	0.403000														29			22		0	0	0.002299	0	0
PCK1	5105	broad.mit.edu	37	20	56138731	56138731	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:56138731G>A	uc002xyn.4	+	5	1072	c.909G>A	c.(907-909)tgG>tgA	p.W303*	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	303					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCCCCGGGTGGAAGGTTGAGT	0.557000														74			47		0	0	0.003610	0	0
PNPLA8	50640	broad.mit.edu	37	7	108155291	108155291	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:108155291G>A	uc003vff.1	-	3	1052	c.645C>T	c.(643-645)ttC>ttT	p.F215F	PNPLA8_uc003vfi.1_Silent_p.F115F|PNPLA8_uc003vfh.1_Silent_p.F215F|PNPLA8_uc003vfj.1_Silent_p.F215F|PNPLA8_uc003vfk.1_Silent_p.F115F	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	215					fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CCTTACGTTTGAAATATGAAT	0.303000														40			13		0	0	0.001855	0	0
GIT1	28964	broad.mit.edu	37	17	27903339	27903339	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:27903339G>A	uc002heg.2	-	14	1751	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	GIT1_uc002hef.2_Missense_Mutation_p.R504C|GIT1_uc010wbg.1_Missense_Mutation_p.R513C	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	504					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AAGGCCTGGCGATCCCTGCGG	0.677000														122			35		0	0	0.004289	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566663	20566663	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:20566663G>A	uc002dhj.4	-	4	734	c.524C>T	c.(523-525)cCt>cTt	p.P175L	ACSM2B_uc002dhk.4_Missense_Mutation_p.P175L|ACSM2B_uc010bwf.1_Missense_Mutation_p.P175L	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	175					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCTCAGAGAAGGACATTCAGA	0.453000														99			67		0	0	0.003610	0	0
SVOP	55530	broad.mit.edu	37	12	109306311	109306311	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:109306311C>T	uc010sxh.1	-	15	1657	c.1485G>A	c.(1483-1485)taG>taA	p.*495*		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA.	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						CCATCGGTCACTATTCCTGAG	0.617000														59			82		0	0	0.003610	0	0
OPN4	94233	broad.mit.edu	37	10	88417915	88417915	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:88417915G>A	uc010qmk.1	+	3	677	c.450G>A	c.(448-450)ggG>ggA	p.G150G	OPN4_uc001kdp.3_Silent_p.G150G|OPN4_uc001kdq.3_Silent_p.G139G|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	139					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGCTCTTTGGGGAGACAGGTA	0.557000														31			46		0	0	0.003214	0	0
HERPUD2	64224	broad.mit.edu	37	7	35709926	35709926	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:35709926G>A	uc003tes.4	-	3	897	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	HERPUD2_uc003tet.3_Missense_Mutation_p.H80Y	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	80	Ubiquitin-like.				response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGAACCATATGATACTCATCT	0.363000														20			18		0	0	0.000958	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69053171	69053171	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:69053171G>A	uc010fdg.3	+	10	2205	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	ARHGAP25_uc010yql.2_Missense_Mutation_p.E556K|ARHGAP25_uc002sew.3_Missense_Mutation_p.E588K|ARHGAP25_uc002sex.3_Missense_Mutation_p.E589K	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	595					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCTCAATGAAGAACTGGAGAA	0.468000														68			41		0	0	0.002222	0	0
C3orf15	89876	broad.mit.edu	37	3	119462918	119462918	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:119462918G>A	uc003ede.4	+	13	1854	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	C3orf15_uc010hqz.3_Missense_Mutation_p.E531K|C3orf15_uc011bjd.2_Missense_Mutation_p.E467K|C3orf15_uc011bje.2_Missense_Mutation_p.E573K	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	429						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		ACTGCAGGAGGAGAGGAGGAT	0.577000														64			45		0	0	0.003610	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228438	142228438	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:142228438C>T	uc003ywd.1	-	3	1456	c.1148G>A	c.(1147-1149)gGg>gAg	p.G383E	SLC45A4_uc003ywc.1_Missense_Mutation_p.G383E|SLC45A4_uc010meq.1_Missense_Mutation_p.G381E	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	434					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCAGTGGGACCCAAGCTTGCC	0.682000														134			17		0	0	0.000958	0	0
KIAA1109	84162	broad.mit.edu	37	4	123201052	123201052	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:123201052C>T	uc003ieh.3	+	48	8759	c.8714C>T	c.(8713-8715)cCt>cTt	p.P2905L	KIAA1109_uc003iel.1_Missense_Mutation_p.P840L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2905					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCTCAGCACCCTGCCACCTTA	0.443000														78			19		0	0	0.006122	0	0
EVPL	2125	broad.mit.edu	37	17	74004390	74004390	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:74004390G>A	uc010wss.1	-	21	5190	c.4962C>T	c.(4960-4962)gcC>gcT	p.A1654A	EVPL_uc002jqi.2_Silent_p.A1632A|EVPL_uc010wst.1_Silent_p.A1102A	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1632	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGCCCCGCTGGGCCGCCTTCT	0.672000														25			10		0	0	0.000978	0	0
CABYR	26256	broad.mit.edu	37	18	21735699	21735699	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr18:21735699G>A	uc002kux.3	+	3	386	c.234G>A	c.(232-234)aaG>aaA	p.K78K	CABYR_uc021uig.1_Silent_p.K60K|CABYR_uc010xbb.1_5'UTR|CABYR_uc002kuy.3_Silent_p.K78K|CABYR_uc002kuz.3_Silent_p.K78K|CABYR_uc002kva.3_Silent_p.K60K|CABYR_uc002kvb.3_5'UTR|CABYR_uc002kvc.3_Silent_p.K78K|CABYR_uc010dlw.3_Non-coding_Transcript	NM_012189	NP_036321	O75952	CABYR_HUMAN	Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.	78					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	SH3 domain binding|cAMP-dependent protein kinase regulator activity|calcium ion binding|enzyme binding|protein heterodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CACCACAGAAGAAATTAGAAT	0.338000														57			36		0	0	0.001287	0	0
RASAL1	8437	broad.mit.edu	37	12	113554893	113554893	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:113554893G>T	uc001tun.2	-	8	1017	c.716C>A	c.(715-717)gCc>gAc	p.A239D	RASAL1_uc010syp.2_Missense_Mutation_p.A239D|RASAL1_uc001tul.3_Missense_Mutation_p.A239D|RASAL1_uc001tum.2_Missense_Mutation_p.A239D|RASAL1_uc010syq.2_Missense_Mutation_p.A239D|RASAL1_uc001tuo.4_Missense_Mutation_p.A239D|RASAL1_uc010syr.2_Missense_Mutation_p.A239D	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	239					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ATCCTCCTCGGCTCTGGGAAA	0.617000														20			32		1.42033e-22	2.74682e-22	0.004289	1	0
MST1	4485	broad.mit.edu	37	3	49723120	49723120	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:49723120G>A	uc003cxg.3	-	10	1368	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	MST1_uc011bcs.1_Missense_Mutation_p.S471F	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	418	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGTTCCGGCAGAAGTTCTCCT	0.587000														32			24		0	0	0.003330	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928921	32928921	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:32928921G>A	uc001zgy.1	+	11	2669	c.1947G>A	c.(1945-1947)ttG>ttA	p.L649L	ARHGAP11A_uc010ubw.1_Silent_p.L460L|ARHGAP11A_uc010ubx.1_Silent_p.L460L	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	649					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CTAATGATTTGACTATAGTAG	0.343000														10			17		0	0	0.004007	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190618689	190618689	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:190618689G>A	uc002uqz.1	-	4	1450	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	OSGEPL1_uc002ura.1_Non-coding_Transcript	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase-like 1 (OSGEPL1), mRNA.	306					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			TTACAAAACAGAATAGCCCGA	0.378000														21			17		0	0	0.004007	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736775	12736775	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chrX:12736775A>T	uc004cuz.2	+	15	4336	c.3830A>T	c.(3829-3831)gAa>gTa	p.E1277V	FRMPD4_uc011mij.2_Missense_Mutation_p.E1269V	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1277					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACCTTTAAGGAACTGCACCCA	0.542000														27			107		0	0	0.003610	0	0
GPR116	221395	broad.mit.edu	37	6	46826032	46826032	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:46826032C>T	uc003oyo.3	-	16	3897	c.3608G>A	c.(3607-3609)gGa>gAa	p.G1203E	GPR116_uc011dwj.1_Missense_Mutation_p.G758E|GPR116_uc011dwk.1_Missense_Mutation_p.G632E|GPR116_uc003oyp.3_Missense_Mutation_p.G1061E|GPR116_uc003oyq.3_Missense_Mutation_p.G1203E|GPR116_uc010jzi.1_Missense_Mutation_p.G875E	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1203					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGGCTTGTCTCCAATGGAAGG	0.527000														128			49		0	0	0.003610	0	0
WDR72	256764	broad.mit.edu	37	15	53908292	53908292	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:53908292G>A	uc002acj.2	-	14	2153	c.2111C>T	c.(2110-2112)tCc>tTc	p.S704F	WDR72_uc010bfi.1_Missense_Mutation_p.S704F	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	704								p.S703S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAATGAACTGGAAGAGTCAAC	0.423000														9			25		0	0	0.003954	0	0
ZBP1	81030	broad.mit.edu	37	20	56191474	56191474	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:56191474C>T	uc002xyo.3	-	1	366	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	ZBP1_uc010gjm.3_Missense_Mutation_p.V29M|ZBP1_uc002xyp.3_Intron|ZBP1_uc010zzn.2_Missense_Mutation_p.V29M	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	29						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GCAAGTTTCACCGGGGAGCCA	0.577000														103			53		0	0	0.003610	0	0
CYP3A43	64816	broad.mit.edu	37	7	99453298	99453298	+	Missense_Mutation	SNP	C	T	T	rs140807333		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:99453298C>T	uc003ury.1	+	7	858	c.755C>T	c.(754-756)tCc>tTc	p.S252F	CYP3A43_uc003urx.1_Missense_Mutation_p.S252F|CYP3A43_uc003urz.1_Missense_Mutation_p.S252F|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.S142F|CYP3A43_uc003usb.1_Intron	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	252			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TTAAAAAATTCCATTGAAAGG	0.323000														45			11		0	0	0.000978	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141356	143141356	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:143141356T>C	uc011ktg.2	+	0	811	c.811T>C	c.(811-813)Ttt>Ctt	p.F271L	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	271					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGCAGGTATTTTTCCACCTCT	0.488000														325			16		0	0	0.006122	0	0
ERBB2	2064	broad.mit.edu	37	17	37883074	37883074	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:37883074G>A	uc002hso.3	+	24	3215	c.2977G>A	c.(2977-2979)Gac>Aac	p.D993N	ERBB2_uc010cwa.3_Missense_Mutation_p.D978N|ERBB2_uc002hsm.3_Missense_Mutation_p.D963N|ERBB2_uc002hsp.3_Missense_Mutation_p.D796N|ERBB2_uc010cwb.3_Missense_Mutation_p.D993N|ERBB2_uc010wek.2_Missense_Mutation_p.D717N	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	993					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACAGAATGAGGACTTGGGCCC	0.612000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				78			17		0	0	0.004990	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795941	21795941	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr14:21795941A>G	uc001wag.3	+	16	2870	c.2870A>G	c.(2869-2871)gAg>gGg	p.E957G	RPGRIP1_uc001wah.3_Missense_Mutation_p.E599G|RPGRIP1_uc001wai.3_Missense_Mutation_p.E283G|RPGRIP1_uc001wak.3_Missense_Mutation_p.E432G|RPGRIP1_uc010aim.3_Missense_Mutation_p.E340G|RPGRIP1_uc001wal.3_Missense_Mutation_p.E316G|RPGRIP1_uc001wam.3_Missense_Mutation_p.E274G	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	957	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TCATCTGAAGAGGAAAAGGCT	0.463000														8			14		0	0	0.003163	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439318	110439318	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:110439318G>A	uc003yne.3	+	24	3037	c.2933G>A	c.(2932-2934)gGa>gAa	p.G978E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	978					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACACGAGAGGGAACCTGTGCT	0.527000										HNSCC(38;0.096)				68			91		0	0	0.003610	0	0
CHD5	26038	broad.mit.edu	37	1	6184071	6184071	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:6184071C>T	uc001amb.2	-	30	4747	c.4636G>A	c.(4636-4638)Gac>Aac	p.D1546N	CHD5_uc001alz.2_Missense_Mutation_p.D403N|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1546					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTGTTGGGGTCCGAGGAGATC	0.682000														20			9		0	0	0.000443	0	0
MUC4	4585	broad.mit.edu	37	3	195491943	195491943	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:195491943C>T	uc021xjp.1	-	9	14005	c.13849G>A	c.(13849-13851)Gga>Aga	p.G4617R	MUC4_uc003fuz.3_Missense_Mutation_p.G215R|MUC4_uc003fva.3_Missense_Mutation_p.G97R|MUC4_uc003fvb.3_Missense_Mutation_p.G133R|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.G133R|MUC4_uc010hzr.3_Intron|MUC4_uc021xjm.1_Missense_Mutation_p.G126R|MUC4_uc021xjn.1_Missense_Mutation_p.G306R|MUC4_uc021xjo.1_Missense_Mutation_p.G97R|MUC4_uc021xjg.1_Missense_Mutation_p.G97R|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.G181R|MUC4_uc021xjj.1_Missense_Mutation_p.G181R|MUC4_uc021xjk.1_Missense_Mutation_p.G358R|MUC4_uc021xjl.1_Missense_Mutation_p.G97R|MUC4_uc003fvo.3_Missense_Mutation_p.G381R|MUC4_uc003fvp.3_Missense_Mutation_p.G330R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1374					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACACGCCTCCTCGCCAAGAG	0.657000														29			9		0	0	0.004482	0	0
SEC16A	9919	broad.mit.edu	37	9	139345792	139345792	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:139345792C>T	uc004chx.3	-	22	6537	c.6228G>A	c.(6226-6228)acG>acA	p.T2076T	SEC16A_uc004chr.3_5'Flank|SEC16A_uc004chs.3_5'UTR|SEC16A_uc004cht.3_Silent_p.T107T|SEC16A_uc004chu.3_Silent_p.T261T|SEC16A_uc004chv.4_Silent_p.T1466T|SEC16A_uc004chw.3_Silent_p.T2076T|SEC16A_uc010nbn.3_Silent_p.T2076T	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1898	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGGTGGCTGCGTGGGACCCG	0.617000														18			12		0	0	0.000978	0	0
MAB21L3	126868	broad.mit.edu	37	1	116666948	116666948	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:116666948G>A	uc001egc.1	+	3	716	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	151										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						GAAGCTGGTGGAAAATGCAGT	0.488000														48			48		0	0	0.003610	0	0
IRF6	3664	broad.mit.edu	37	1	209961987	209961987	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:209961987G>A	uc001hhq.2	-	8	1486	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	IRF6_uc010psm.2_Silent_p.V299V	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	394					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTACTGGAATGACCTGTTCAG	0.473000										HNSCC(57;0.16)				26			30		0	0	0.001951	0	0
DNAH5	1767	broad.mit.edu	37	5	13911564	13911564	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:13911564G>A	uc003jfd.2	-	11	1617	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	525	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTGGTCTAGGAAATTGTATT	0.308000									Kartagener syndrome					23			42		0	0	0.003610	0	0
SEL1L2	80343	broad.mit.edu	37	20	13936761	13936761	+	Silent	SNP	T	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:13936761T>C	uc010gcf.3	-	1	157	c.75A>G	c.(73-75)gaA>gaG	p.E25E	SEL1L2_uc002woq.4_5'UTR|SEL1L2_uc010zrl.2_Silent_p.E25E|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	25						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTTATTATGTTCCTCTGCTT	0.234000														26			22		0	0	0.002780	0	0
SETD2	29072	broad.mit.edu	37	3	47162123	47162123	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:47162123G>A	uc003cqv.3	-	2	4056	c.3970C>T	c.(3970-3972)Cgt>Tgt	p.R1324C	SETD2_uc003cqs.3_Missense_Mutation_p.R1335C	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.W1324R(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTTCTTCACGATCATCTGTT	0.458000			"""N, F, S, Mis"""		clear cell renal carcinoma									37			14		0	0	0.004007	0	0
NLRP9	338321	broad.mit.edu	37	19	56244576	56244576	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:56244576C>T	uc002qly.3	-	1	649	c.621G>A	c.(619-621)ccG>ccA	p.P207P		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	207	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGAAGACTCCGGCCAGTCCC	0.443000														23			16		0	0	0.003163	0	0
PAX8	7849	broad.mit.edu	37	2	113994297	113994298	+	Splice_Site	DNP	CC	TT	TT	rs33934602		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:113994297_113994298CC>TT	uc010yxt.2	-	8	944	c.778_splice	c.e8-1	p.G260_splice	PAX8_uc010yxu.2_Splice_Site_p.G260_splice|PAX8_uc002tjm.3_Intron|PAX8_uc002tjn.3_Intron|LOC654433_uc002tjp.2_Intron|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	260					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CGGGTAGAGGCCCTGGGGAGCA	0.624000			T	PPARG	follicular thyroid		Thyroid dysgenesis							6			4		0	0	0.004672	0	0
TMEM52	339456	broad.mit.edu	37	1	1849693	1849693	+	Splice_Site	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:1849693G>A	uc001aij.2	-	4	385	c.349_splice	c.e4+1	p.S117_splice	TMEM52_uc001aii.2_Splice_Site_p.S102_splice	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	117						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCACTCACAGGTCACAGTGC	0.637000														57			23		0	0	0.002780	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474579	99474579	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:99474579G>A	uc003usc.1	-	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGGAGAAAAGGAAAAGGTGGG	0.502000														60			59		0	0	0.003610	0	0
PRRC2A	7916	broad.mit.edu	37	6	31592079	31592079	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:31592079T>G	uc003nvb.4	+	3	581	c.332T>G	c.(331-333)cTg>cGg	p.L111R	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.L111R|PRRC2A_uc003nve.3_5'Flank	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	111	4 X 57 AA type A repeats.			ESQPLPASQTPASNQPK -> NRTTAGFTDACLQPAE (in Ref. 8; CAA78744).		cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCGCAGCCACTGCCGGCTTCA	0.607000														150			14		0	0	0.003163	0	0
C7orf26	79034	broad.mit.edu	37	7	6647684	6647684	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:6647684G>A	uc003sqo.1	+	5	1242	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	C7orf26_uc003sqp.1_Silent_p.L317L	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	414										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CGCCCCCGCTGGGCTACGGGG	0.726000														39			6		0	0	0.004482	0	0
DMTF1	9988	broad.mit.edu	37	7	86817419	86817420	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:86817419_86817420GG>AA	uc003uih.3	+	12	1539_1540	c.1213_1214GG>AA	c.(1213-1215)ggt>AAt	p.G405N	DMTF1_uc003uii.3_Missense_Mutation_p.G139N|DMTF1_uc003uij.3_Missense_Mutation_p.G139N|DMTF1_uc011khb.2_Missense_Mutation_p.G317N|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.G405N|DMTF1_uc003uin.3_Missense_Mutation_p.G139N	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	405	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CTTAATAAAAGGTCTTAAACAG	0.436000														25			17		0	0	0.004672	0	0
COL11A2	1302	broad.mit.edu	37	6	33139493	33139493	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:33139493G>A	uc003ocx.1	-	41	3375	c.3147C>T	c.(3145-3147)gtC>gtT	p.V1049V	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.V963V|COL11A2_uc003ocz.1_Silent_p.V942V	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1049	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACTCACTGGGACACCTTTCT	0.642000														24			11		0	0	0.001855	0	0
PCSK5	5125	broad.mit.edu	37	9	78953217	78953217	+	Missense_Mutation	SNP	G	A	A	rs145485084	by1000genomes	TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:78953217G>A	uc004akc.2	+	33	5277	c.4739G>A	c.(4738-4740)cGg>cAg	p.R1580Q		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	751					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CAGGGCCCACGGCCCACAGAC	0.527000														22			18		0	0	0.001216	0	0
CLDN14	23562	broad.mit.edu	37	21	37833622	37833622	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr21:37833622G>A	uc021wja.1	-	0	372	c.372C>T	c.(370-372)ctC>ctT	p.L124L	CLDN14_uc002yvn.1_Silent_p.L124L|CLDN14_uc002yvo.1_Silent_p.L124L|CLDN14_uc002yvk.1_Silent_p.L124L|CLDN14_uc002yvl.1_Silent_p.L124L|CLDN14_uc002yvm.1_Silent_p.L124L	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	124					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						CCAGGATGAAGAGGGTGCCGC	0.657000														78			46		0	0	0.003610	0	0
TEK	7010	broad.mit.edu	37	9	27168557	27168557	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:27168557C>T	uc011lno.2	+	2	871	c.429C>T	c.(427-429)ttC>ttT	p.F143F	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Silent_p.F143F|TEK_uc003zqi.4_Silent_p.F143F|TEK_uc011lnp.2_Silent_p.F39F|TEK_uc003zqj.1_Silent_p.F120F	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	143					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ACATATCTTTCAAAAAGGTAT	0.343000														33			17		0	0	0.001882	0	0
PCLO	27445	broad.mit.edu	37	7	82580453	82580453	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:82580453C>T	uc003uhx.2	-	5	9740	c.9451G>A	c.(9451-9453)Gaa>Aaa	p.E3151K	PCLO_uc003uhv.2_Missense_Mutation_p.E3151K|PCLO_uc010lec.3_Missense_Mutation_p.E116K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3082	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGTCCGTTTCAGATGCACCT	0.423000														24			25		0	0	0.003954	0	0
HEATR5B	54497	broad.mit.edu	37	2	37234429	37234429	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:37234429G>A	uc002rpp.1	-	28	4637	c.4541C>T	c.(4540-4542)cCt>cTt	p.P1514L	HEATR5B_uc010ezy.1_Missense_Mutation_p.P98L	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1514							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AATAGTTTCAGGGGTATAAAA	0.383000														68			21		0	0	0.003330	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171146	150171146	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:150171146G>A	uc003whj.3	+	3	1059	c.729G>A	c.(727-729)ccG>ccA	p.P243P		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	243						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGCAGAATCCGGGGACATCAG	0.552000														129			47		0	0	0.003610	0	0
TXNL1	9352	broad.mit.edu	37	18	54291641	54291641	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr18:54291641G>A	uc002lgg.3	-	2	846	c.247C>T	c.(247-249)Cga>Tga	p.R83*	TXNL1_uc010xdz.2_Non-coding_Transcript|TXNL1_uc002lgh.3_Non-coding_Transcript|TXNL1_uc002lgi.3_Nonsense_Mutation_p.R83*|TXNL1_uc002lgj.1_Nonsense_Mutation_p.R83*	NM_004786	NP_004777	O43396	TXNL1_HUMAN	Homo sapiens thioredoxin-like 1 (TXNL1), transcript variant 1, mRNA.	83	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		ACTTTGTTTCGAAAAAACAAA	0.373000														106			52		0	0	0.003610	0	0
ZNF135	7694	broad.mit.edu	37	19	58578848	58578848	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:58578848G>A	uc002qrg.3	+	3	1071	c.1068G>A	c.(1066-1068)ggG>ggA	p.G356G	ZNF135_uc002qre.3_Silent_p.G332G|ZNF135_uc002qrf.3_Silent_p.G290G|ZNF135_uc010yhq.2_Silent_p.G344G|ZNF135_uc010yhr.2_Silent_p.G153G|ZNF135_uc002qrd.2_Silent_p.G344G|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	344					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTGAGTGTGGGAAAGCCTTCC	0.552000														22			12		0	0	0.000978	0	0
DNAH8	1769	broad.mit.edu	37	6	38906695	38906695	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:38906695C>T	uc021yzh.1	+	78	12047	c.11938C>T	c.(11938-11940)Ctc>Ttc	p.L3980F	DNAH8_uc003ooe.2_Missense_Mutation_p.L3763F|DNAH8_uc003oog.1_Missense_Mutation_p.L212F|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTTGTACTCCTCATGACCTT	0.383000														47			32		0	0	0.002836	0	0
NRXN3	9369	broad.mit.edu	37	14	79181167	79181167	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr14:79181167G>A	uc001xun.3	+	4	1101	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.E338K	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	210	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTGGACCTGGAAGGAGACAT	0.592000														32			62		0	0	0.003610	0	0
ZNF586	54807	broad.mit.edu	37	19	58288009	58288009	+	Silent	SNP	G	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:58288009G>T	uc002qqd.3	+	1	326	c.135G>T	c.(133-135)ctG>ctT	p.L45L	ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_Silent_p.L2L|ZNF586_uc002qqe.3_Intron|ZNF586_uc002qqf.2_Intron	NM_017652	NP_001191743	Q9NXT0	ZN586_HUMAN	Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA.	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACGTGATGCTGGAGACCTTGA	0.473000														296			6		0.00307968	0.00589274	0.003080	1	0
CCDC81	60494	broad.mit.edu	37	11	86123489	86123489	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:86123489G>A	uc001pbx.2	+	10	1707	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	CCDC81_uc001pbw.2_Missense_Mutation_p.E337K|CCDC81_uc010rtq.2_Missense_Mutation_p.E210K|CCDC81_uc001pby.2_Missense_Mutation_p.E162K	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	427										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TAAGCAAGAGGAATATTCCCG	0.413000														29			29		0	0	0.002096	0	0
HERC2	8924	broad.mit.edu	37	15	28369256	28369256	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:28369256G>A	uc001zbj.3	-	84	13221	c.13115C>T	c.(13114-13116)tCg>tTg	p.S4372L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4372					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCGTCGAGCGAGCCTTCCAG	0.562000														27			40		0	0	0.001706	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185751	39185751	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:39185751G>A	uc003cjg.3	-	3	871	c.657C>T	c.(655-657)atC>atT	p.I219I	CSRNP1_uc003cjh.3_Silent_p.I219I	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	219					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCTCCCGATCGATCCTTCGCA	0.632000														56			29		0	0	0.002096	0	0
PTPRO	5800	broad.mit.edu	37	12	15656912	15656912	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:15656912G>A	uc001rcv.2	+	5	1646	c.1176G>A	c.(1174-1176)ggG>ggA	p.G392G	PTPRO_uc001rcw.2_Silent_p.G392G|PTPRO_uc001rcu.2_Silent_p.G392G	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	392	Fibronectin type-III 4.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AGGAACCTGGGAAATATAAGT	0.338000														41			21		0	0	0.001882	0	0
CABP7	164633	broad.mit.edu	37	22	30123650	30123650	+	Splice_Site	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:30123650G>A	uc003agl.3	+	2	180	c.110_splice	c.e2-1	p.E37_splice		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	Homo sapiens calcium binding protein 7 (CABP7), mRNA.	37	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			TCTCTCCTCAGAGATCCGAGA	0.597000														151			53		0	0	0.003610	0	0
GPR126	57211	broad.mit.edu	37	6	142721671	142721671	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:142721671C>T	uc010khe.3	+	10	2028	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	GPR126_uc010khc.3_Silent_p.I539I|GPR126_uc010khd.3_Silent_p.I511I|GPR126_uc010khf.3_Silent_p.I511I	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	539					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GGCCATCTATCCAACCTTCTG	0.413000														7			11		0	0	0.001368	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37465275	37465275	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:37465275G>A	uc003aqt.1	-	15	2013	c.1951C>T	c.(1951-1953)Cac>Tac	p.H651Y	TMPRSS6_uc003aqs.1_Missense_Mutation_p.H660Y	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	660	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TCCTCTTCGTGGTACGGGTGC	0.692000														26			7		0	0	0.003080	0	0
ALOX12	239	broad.mit.edu	37	17	6903691	6903691	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:6903691G>A	uc002gdx.4	+	6	897	c.844G>A	c.(844-846)Gat>Aat	p.D282N	LOC100506713_uc021tou.1_Intron	NM_000697	NP_000688	P18054	LOX12_HUMAN	Homo sapiens arachidonate 12-lipoxygenase (ALOX12), mRNA.	282	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CATCCTTCTGGATGGAATTCC	0.542000														148			40		0	0	0.001485	0	0
ABCA7	10347	broad.mit.edu	37	19	1063641	1063641	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:1063641C>T	uc002lqw.4	+	42	6042	c.5811C>T	c.(5809-5811)gcC>gcT	p.A1937A	ABCA7_uc002lqy.3_Silent_p.A390A|ABCA7_uc010dsc.3_Non-coding_Transcript|HMHA1_uc010xgd.1_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1937	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TGGCGACGGCCCTGGCGCTGG	0.697000														30			11		0	0	0.000673	0	0
CCDC136	64753	broad.mit.edu	37	7	128441254	128441254	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:128441254C>T	uc003vnv.2	+	3	777	c.361C>T	c.(361-363)Cta>Tta	p.L121L	CCDC136_uc003vnu.2_Silent_p.L171L|CCDC136_uc003vnx.2_5'UTR|CCDC136_uc010llq.2_5'UTR	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	121	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCTGCGTTCTCTACGGGAGGA	0.463000														45			5		0	0	0.000602	0	0
KIAA1199	57214	broad.mit.edu	37	15	81173276	81173276	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:81173276G>A	uc002bfw.1	+	4	676	c.416G>A	c.(415-417)gGt>gAt	p.G139D	KIAA1199_uc010unn.1_Missense_Mutation_p.G139D	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	139	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCTTACTATGGTCTGAAGTAC	0.498000														49			149		0	0	0.003610	0	0
LY9	4063	broad.mit.edu	37	1	160769848	160769848	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:160769848G>A	uc001fwu.3	+	1	480	c.430G>A	c.(430-432)Gag>Aag	p.E144K	LY9_uc001fwt.3_Missense_Mutation_p.E144K|LY9_uc010pjs.1_Missense_Mutation_p.E144K|LY9_uc001fwv.3_Missense_Mutation_p.E144K|LY9_uc001fww.3_Missense_Mutation_p.E144K|LY9_uc001fwy.1_Missense_Mutation_p.E46K	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	144	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CACCACTGAGGAGGAATTCAC	0.408000														132			49		0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41711317	41711317	+	Silent	SNP	G	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr21:41711317G>T	uc002yyq.1	-	6	1688	c.1236C>A	c.(1234-1236)gcC>gcA	p.A412A	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	412	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCACTAAAGGCAGAAATAA	0.438000														7			11		1.08611e-07	2.08926e-07	0.000978	1	0
OR6M1	390261	broad.mit.edu	37	11	123676656	123676656	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:123676656C>T	uc010rzz.2	-	0	402	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCCTGCTGTTCATGATGACCG	0.527000														15			16		0	0	0.004990	0	0
ELTD1	64123	broad.mit.edu	37	1	79470895	79470895	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:79470895G>A	uc001diq.4	-	1	188	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	11					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.S11F(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CAACAAAGTGGAAAAAACCAC	0.323000														17			8		0	0	0.003080	0	0
THBS4	7060	broad.mit.edu	37	5	79373993	79373993	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:79373993G>A	uc021yaw.1	+	16	2399	c.2208G>A	c.(2206-2208)gtG>gtA	p.V736V	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	736	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACCAGACCGTGGTCCTGGATC	0.587000														9			15		0	0	0.003163	0	0
AOX1	316	broad.mit.edu	37	2	201460031	201460032	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:201460031_201460032GA>AT	uc002uvx.3	+	2	241_242	c.140_141GA>AT	c.(139-141)gga>gAT	p.G47D		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	47	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGTGGAGGAGGAGGCTGTGGTG	0.421000														32			7		0	0	0.004672	0	0
NPHP4	261734	broad.mit.edu	37	1	6007208	6007208	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:6007208G>A	uc001alq.2	-	8	1343	c.1075C>T	c.(1075-1077)Cag>Tag	p.Q359*	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	359					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TACTCCAGCTGGAAGATGACC	0.572000														60			22		0	0	0.001523	0	0
KCNT2	343450	broad.mit.edu	37	1	196274467	196274467	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:196274467G>A	uc001gtd.1	-	21	2552	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.S757F|KCNT2_uc001gtf.1_Missense_Mutation_p.S807F|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.S807F|KCNT2_uc001gth.1_Missense_Mutation_p.S328F	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	831						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACTGAGACTGGAAAACAACCT	0.363000														22			18		0	0	0.006122	0	0
NOL3	8996	broad.mit.edu	37	16	67208605	67208605	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:67208605G>A	uc010vjd.2	+	2	560	c.367G>A	c.(367-369)Ggt>Agt	p.G123S	NOL3_uc010vjc.2_Missense_Mutation_p.G126E|NOL3_uc002erp.3_Missense_Mutation_p.G126E	NM_001185057	NP_001171986	O60936	NOL3_HUMAN	Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.	123					RNA splicing|anti-apoptosis|apoptosis|mRNA processing	cytosol|nucleolus	RNA binding|identical protein binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		ACATGCCCCGGGTTGCCCAGA	0.711000														18			12		0	0	0.001368	0	0
LGI4	163175	broad.mit.edu	37	19	35616179	35616179	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:35616179G>A	uc002nxx.2	-	8	2126	c.1532C>T	c.(1531-1533)gCc>gTc	p.A511V	LGI4_uc002nxy.1_Missense_Mutation_p.A339V|LGI4_uc002nxz.1_3'UTR	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	511						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCGTCTGCCGGCCATAGTGAT	0.632000														61			32		0	0	0.004289	0	0
LRP1B	53353	broad.mit.edu	37	2	141072609	141072609	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:141072609C>T	uc002tvj.1	-	82	13672	c.12700G>A	c.(12700-12702)Gat>Aat	p.D4234N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4234	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACCTCAAATCACCTTTCTCA	0.388000										TSP Lung(27;0.18)				10			14		0	0	0.002450	0	0
TMEM26	219623	broad.mit.edu	37	10	63188782	63188782	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:63188782G>A	uc001jlo.2	-	3	876	c.507C>T	c.(505-507)atC>atT	p.I169I	TMEM26_uc001jlq.3_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	169						integral to membrane		p.G168W(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GATCTCGAGTGATCCCGCCTC	0.433000														9			23		0	0	0.001882	0	0
SELE	6401	broad.mit.edu	37	1	169702093	169702093	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:169702093C>T	uc001ggm.4	-	2	241	c.84G>A	c.(82-84)acG>acA	p.T28T	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	28	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCATAGCTTCCGTGGAGGTGT	0.418000														108			31		0	0	0.002096	0	0
CD58	965	broad.mit.edu	37	1	117064556	117064557	+	Missense_Mutation	DNP	AA	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:117064556_117064557AA>TT	uc001egm.3	-	3	798_799	c.677_678TT>AA	c.(676-678)att>aAA	p.I226K	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.I226K|CD58_uc001ego.1_Non-coding_Transcript|CD58_uc001egp.4_Missense_Mutation_p.I226K	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	226					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	p.I226L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TACATGTTGTAATTACTGCTAA	0.292000														11			7		0	0	0.004672	0	0
NCAPD2	9918	broad.mit.edu	37	12	6637364	6637364	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:6637364C>T	uc001qoo.2	+	24	3215	c.3169C>T	c.(3169-3171)Cgt>Tgt	p.R1057C	NCAPD2_uc009zen.1_Missense_Mutation_p.R929C|NCAPD2_uc010sfd.1_Missense_Mutation_p.R1012C	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	1057					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTCCCAGCTTCGTCTTCTGTT	0.527000														173			107		0	0	0.003610	0	0
DMXL1	1657	broad.mit.edu	37	5	118485077	118485077	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:118485077C>T	uc010jcl.1	+	17	3736	c.3555C>T	c.(3553-3555)ctC>ctT	p.L1185L	DMXL1_uc003ksd.2_Silent_p.L1185L|DMXL1_uc021ycw.1_Silent_p.L1012L	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1185										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATTTCCTCTCTGGGAGAGTA	0.438000														29			55		0	0	0.003610	0	0
CEP63	80254	broad.mit.edu	37	3	134256013	134256013	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:134256013C>T	uc003eqo.1	+	6	907	c.458C>T	c.(457-459)tCg>tTg	p.S153L	CEP63_uc003eql.1_Missense_Mutation_p.S153L|CEP63_uc003eqm.3_Missense_Mutation_p.S153L|CEP63_uc003eqn.1_Missense_Mutation_p.S153L	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	153					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.S153L(2)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CGTCAGAAATCGCTGGACTGG	0.438000														33			30		0	0	0.001512	0	0
DMP1	1758	broad.mit.edu	37	4	88584265	88584265	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:88584265G>A	uc003hqv.3	+	5	1439	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E	DMP1_uc003hqw.3_Silent_p.E429E	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	445					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.S444S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GTCAGAGCGAGGAAAGCCATT	0.537000														40			27		0	0	0.004656	0	0
CHD6	84181	broad.mit.edu	37	20	40102057	40102057	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:40102057G>A	uc002xka.1	-	16	2747	c.2569C>T	c.(2569-2571)Ctg>Ttg	p.L857L	CHD6_uc002xkd.2_Silent_p.L835L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	857	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGGTGCACAGAAGAAAGACA	0.517000														58			25		0	0	0.003954	0	0
CDC42SE2	56990	broad.mit.edu	37	5	130721235	130721235	+	Splice_Site	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:130721235G>A	uc003kvh.3	+	4	667	c.55_splice	c.e4-1	p.K19_splice	CDC42SE2_uc003kvi.3_Splice_Site_p.K19_splice|CDC42SE2_uc003kvj.3_Splice_Site_p.K19_splice|CDC42SE2_uc003kvk.3_Splice_Site	NM_020240	NP_064625	Q9NRR3	C42S2_HUMAN	Homo sapiens CDC42 small effector 2 (CDC42SE2), transcript variant 1, mRNA.	19					phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity			breast(1)|large_intestine(1)|skin(1)	3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATATTTTAGAAAAGGCGAC	0.383000														15			26		0	0	0.004656	0	0
TSGA10	80705	broad.mit.edu	37	2	99651824	99651824	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:99651824G>A	uc002szg.4	-	14	2111	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	TSGA10_uc002szh.4_Nonsense_Mutation_p.Q495*|TSGA10_uc002szi.4_Nonsense_Mutation_p.Q495*|TSGA10_uc010fin.1_Nonsense_Mutation_p.Q495*	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	495					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TGAACCTTCTGAAGCTCCTCT	0.348000														47			7		0	0	0.003080	0	0
DNAH3	55567	broad.mit.edu	37	16	21063133	21063133	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:21063133G>A	uc010vbe.2	-	28	4096	c.4096C>T	c.(4096-4098)Caa>Taa	p.Q1366*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1366	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGATCCATTGGAAATCATTC	0.527000														76			56		0	0	0.003610	0	0
BIN1	274	broad.mit.edu	37	2	127809905	127809905	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:127809905C>T	uc002tns.2	-	14	1681	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R	BIN1_uc010yzf.2_Intron|BIN1_uc002tnt.2_Intron|BIN1_uc010yzg.2_Intron|BIN1_uc002tnu.2_Intron|BIN1_uc002tnv.2_Missense_Mutation_p.G390R|BIN1_uc002tnw.2_Intron|BIN1_uc002tnx.2_Intron|BIN1_uc002tny.2_Missense_Mutation_p.G346R|BIN1_uc002tnz.2_Missense_Mutation_p.G358R|BIN1_uc002toa.2_Intron|BIN1_uc002tob.2_Intron|BIN1_uc002toc.2_Missense_Mutation_p.G315R	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	433					cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTGGGCTCCCCGGAAGGCAGG	0.701000														13			9		0	0	0.000978	0	0
DNAH9	1770	broad.mit.edu	37	17	11593556	11593556	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:11593556G>A	uc002gne.3	+	19	4485	c.4417G>A	c.(4417-4419)Gag>Aag	p.E1473K	DNAH9_uc010coo.3_Missense_Mutation_p.E767K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1473	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAGGTTCTGGAGGATAATCA	0.532000														61			28		0	0	0.001061	0	0
SREBF1	6720	broad.mit.edu	37	17	17719921	17719921	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:17719921G>A	uc002gru.2	-	9	2091	c.1897C>T	c.(1897-1899)Cgt>Tgt	p.R633C	SREBF1_uc002grp.2_Missense_Mutation_p.R252C|SREBF1_uc002grq.2_Missense_Mutation_p.R152C|SREBF1_uc002grr.2_Missense_Mutation_p.R379C|SREBF1_uc002grs.2_Missense_Mutation_p.R609C|SREBF1_uc002grt.2_Missense_Mutation_p.R663C|MIR33B_uc021trh.1_5'Flank	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	633					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						AGCAGGTGACGGATGAGGTTC	0.716000														5			9		0	0	0.004482	0	0
ATG2A	23130	broad.mit.edu	37	11	64677517	64677518	+	Silent	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:64677517_64677518GG>AA	uc001obx.3	-	12	1972_1973	c.1857_1858CC>TT	c.(1855-1860)ggcctg>ggTTtg	p.619_620GL>GL		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	619							protein binding	p.L620R(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CTCACCAGCAGGCCGGCTGGAG	0.728000														6			15		0	0	0.004672	0	0
SLC37A1	54020	broad.mit.edu	37	21	43963547	43963548	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr21:43963547_43963548AG>GA	uc002zbj.3	+	7	1547_1548	c.565_566AG>GA	c.(565-567)aga>GAa	p.R189E	SLC37A1_uc002zbi.3_Missense_Mutation_p.R189E	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	189					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GTGCTGCAGGAGAGGTTTGATT	0.569000														139			75		0	0	0.004672	0	0
NEK5	341676	broad.mit.edu	37	13	52686462	52686462	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr13:52686462C>T	uc001vge.3	-	4	394	c.254G>A	c.(253-255)gGa>gAa	p.G85E		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	85	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GAGATCCCCTCCATCACAATA	0.358000														48			20		0	0	0.002299	0	0
EPOR	2057	broad.mit.edu	37	19	11489124	11489125	+	Silent	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:11489124_11489125GG>AA	uc002mrj.2	-	7	1197_1198	c.1062_1063CC>TT	c.(1060-1065)cccctg>ccTTtg	p.354_355PL>PL	EPOR_uc010xly.2_Silent_p.181_182PL>PL|EPOR_uc002mrk.2_Silent_p.181_182PL>PL|EPOR_uc010xlx.2_Non-coding_Transcript	NM_000121	NP_000112	P19235	EPOR_HUMAN	Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA.	354						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GGCTCCAGCAGGGGGCCCTCAT	0.658000											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			30		0	0	0.004672	0	0
COL5A2	1290	broad.mit.edu	37	2	189932758	189932758	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:189932758C>T	uc002uqk.3	-	20	1659	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	462					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTCGAATTCCCTGAGGACCA	0.498000														58			46		0	0	0.003610	0	0
ABCB11	8647	broad.mit.edu	37	2	169783734	169783734	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:169783734G>A	uc002ueo.1	-	25	3676	c.3550C>T	c.(3550-3552)Ccc>Tcc	p.P1184S	ABCB11_uc010zda.1_Missense_Mutation_p.P602S|ABCB11_uc010zdb.1_Missense_Mutation_p.P660S	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1184	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTTTCCATGGGAATTTCTTTG	0.453000														106			29		0	0	0.001512	0	0
LRRC18	474354	broad.mit.edu	37	10	50122129	50122129	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:50122129G>A	uc001jhd.3	-	0	152	c.72C>T	c.(70-72)atC>atT	p.I24I	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.I24I	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	24						cytoplasm		p.I24F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CATCAAAAGTGATTTTGATGC	0.468000														28			32		0	0	0.002096	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18658387	18658387	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:18658387G>A	uc001rdt.3	+	22	3308	c.3192G>A	c.(3190-3192)ggG>ggA	p.G1064G	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.G1105G|PIK3C2G_uc010sic.2_Silent_p.G883G	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1064	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CATTTGGAGGGATAAAAAGGT	0.368000														16			7		0	0	0.003080	0	0
EIF2C4	192670	broad.mit.edu	37	1	36297478	36297478	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:36297478G>A	uc001bzj.2	+	8	1252	c.1062G>A	c.(1060-1062)atG>atA	p.M354I		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	354					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCCACAATGATCAAAGCTA	0.433000														31			20		0	0	0.001216	0	0
C22orf28	51493	broad.mit.edu	37	22	32804821	32804821	+	Splice_Site	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:32804821C>T	uc003amm.2	-	2	225	c.94_splice	c.e2-1	p.V32_splice	C22orf28_uc011ama.1_Splice_Site	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	32					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding			breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						CACCTTCAACCTAGTACCAAG	0.418000														20			10		0	0	0.000673	0	0
DNAJC7	7266	broad.mit.edu	37	17	40152539	40152539	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:40152539C>T	uc002hyo.3	-	1	408	c.127G>A	c.(127-129)Gat>Aat	p.D43N	DNAJC7_uc010wgb.2_5'UTR|DNAJC7_uc002hyp.3_Intron|DNAJC7_uc010wgc.2_5'UTR|DNAJC7_uc010cxw.3_Non-coding_Transcript	NM_003315	NP_001138238	Q99615	DNJC7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), transcript variant 1, mRNA.	43					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	p.D33Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TCATTGTAATCTTTCTTGGCA	0.318000														54			22		0	0	0.005443	0	0
FCGBP	8857	broad.mit.edu	37	19	40408578	40408578	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:40408578C>T	uc002omp.4	-	7	4269	c.4261G>A	c.(4261-4263)Gag>Aag	p.E1421K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1421	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCACCACCTCCTCCCAGGAG	0.637000														68			28		0	0	0.003755	0	0
DNAH3	55567	broad.mit.edu	37	16	21042384	21042384	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:21042384G>A	uc010vbe.2	-	36	5422	c.5422C>T	c.(5422-5424)Ctg>Ttg	p.L1808L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1808	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTCATCCAGAACAGTGTTC	0.368000														43			30		0	0	0.001512	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035919	36035919	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:36035919G>A	uc003jjz.2	-	6	1585	c.1453C>T	c.(1453-1455)Ctg>Ttg	p.L485L	UGT3A2_uc011cos.2_Silent_p.L451L|UGT3A2_uc011cot.2_Silent_p.L183L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	485						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACGTCGAGCAGGTACTGCTCA	0.617000														14			40		0	0	0.001951	0	0
RASAL1	8437	broad.mit.edu	37	12	113552632	113552632	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:113552632G>A	uc001tun.2	-	12	1455	c.1154C>T	c.(1153-1155)cCc>cTc	p.P385L	RASAL1_uc010syp.2_Missense_Mutation_p.P385L|RASAL1_uc001tul.3_Missense_Mutation_p.P385L|RASAL1_uc001tum.2_Missense_Mutation_p.P385L|RASAL1_uc010syq.2_Missense_Mutation_p.P385L|RASAL1_uc001tuo.4_Missense_Mutation_p.P385L|RASAL1_uc010syr.2_Missense_Mutation_p.P385L	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	385	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CATCTTGCAGGGATCCAGCTC	0.642000														101			150		0	0	0.003610	0	0
SAP130	79595	broad.mit.edu	37	2	128767934	128767935	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:128767934_128767935GG>AA	uc010fmd.2	-	6	987_988	c.855_856CC>TT	c.(853-858)atccct>atTTct	p.P286S	SAP130_uc002tpn.2_Missense_Mutation_p.P47S|SAP130_uc002tpp.2_Missense_Mutation_p.P286S|SAP130_uc002tpq.1_Missense_Mutation_p.P260S	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	286					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACAGCAGGAGGGATGGCATTGG	0.450000														46			9		0	0	0.004672	0	0
KIAA0494	9813	broad.mit.edu	37	1	47181973	47181973	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:47181973G>A	uc001cqk.4	-	1	1305	c.328C>T	c.(328-330)Cga>Tga	p.R110*	KIAA0494_uc010omh.1_Nonsense_Mutation_p.R110*	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	110							calcium ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					TTACTTGTTCGAAATTTTTCC	0.443000														25			9		0	0	0.004482	0	0
MCM3AP	8888	broad.mit.edu	37	21	47674388	47674389	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr21:47674388_47674389GG>AA	uc002zir.1	-	18	4089_4090	c.4053_4054CC>TT	c.(4051-4056)ctccct>ctTTct	p.P1352S	MCM3AP_uc002zip.1_Missense_Mutation_p.P93S|MCM3AP_uc002ziq.1_Missense_Mutation_p.P279S	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1352					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGCCTCCCAGGGAGGTGCTCAG	0.594000														47			17		0	0	0.004672	0	0
ATAD5	79915	broad.mit.edu	37	17	29161414	29161414	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:29161414C>T	uc002hfs.1	+	1	658	c.315C>T	c.(313-315)ttC>ttT	p.F105F	ATAD5_uc002hft.1_Silent_p.F2F	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	105					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGGAAATGTTCTCAAATGTAG	0.338000														99			26		0	0	0.005443	0	0
RNF183	138065	broad.mit.edu	37	9	116060144	116060144	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:116060144G>A	uc022bmd.1	-	0	321	c.321C>T	c.(319-321)cgC>cgT	p.R107R	RNF183_uc004bgz.3_Silent_p.R107R|RNF183_uc004bha.3_Silent_p.R107R	NM_145051	NP_659488	Q96D59	RN183_HUMAN	Homo sapiens ring finger protein 183 (RNF183), mRNA.	107						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						GCAGGAAGTAGCGGCTCTTGG	0.672000														58			34		0	0	0.003755	0	0
C17orf57	124989	broad.mit.edu	37	17	45412682	45412682	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:45412682T>A	uc002iln.3	+	4	582	c.151T>A	c.(151-153)Tca>Aca	p.S51T	ITGB3_uc010wkr.1_Non-coding_Transcript|C17orf57_uc002ilm.3_Missense_Mutation_p.S51T|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Missense_Mutation_p.S51T	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	51							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						GAAGGAAATTTCACCGGAAAT	0.303000														61			24		0	0	0.005443	0	0
HOMER2	9455	broad.mit.edu	37	15	83527871	83527872	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr15:83527871_83527872CC>TT	uc002bjg.3	-	4	625_626	c.436_437GG>AA	c.(436-438)ggg>AAg	p.G146K	HOMER2_uc002bjh.3_Missense_Mutation_p.G135K	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	146					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						ATCGTCCGTCCCGTTGACACTG	0.520000														53			151		0	0	0.004672	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751613	140751613	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:140751613T>C	uc003ljw.2	+	0	1652	c.1652T>C	c.(1651-1653)tTg>tCg	p.L551S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.L551S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	553	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGCGTGTTGGTGGACGAC	0.667000														16			18		0	0	0.006122	0	0
CUL9	23113	broad.mit.edu	37	6	43164398	43164398	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:43164398G>A	uc003ouk.3	+	10	2676	c.2601G>A	c.(2599-2601)gcG>gcA	p.A867A	CUL9_uc003oul.3_Silent_p.A867A|CUL9_uc010jyk.3_Silent_p.A19A	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	867					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTTCTGCAGCGAGAAATGGCT	0.517000														197			73		0	0	0.003610	0	0
OR5R1	219479	broad.mit.edu	37	11	56184908	56184908	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:56184908G>A	uc010rji.2	-	0	801	c.801C>T	c.(799-801)tcC>tcT	p.S267S	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S267C(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CTGTGTCCAAGGAGTGATTTG	0.423000														17			21		0	0	0.001882	0	0
KAT2B	8850	broad.mit.edu	37	3	20136767	20136767	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:20136767C>T	uc003cbq.3	+	2	889	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	148					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GCTCATGTTTCCCACCTGGAG	0.403000														29			9		0	0	0.004482	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32570044	32570044	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:32570044C>T	uc003cfb.4	-	11	1460	c.1356G>A	c.(1354-1356)ttG>ttA	p.L452L	DYNC1LI1_uc011axh.2_Silent_p.L336L	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 1 (DYNC1LI1), mRNA.	452					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	p.L451F(1)		kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TCTTTTTACTCAACAAACTGT	0.448000														41			15		0	0	0.003163	0	0
OR4A47	403253	broad.mit.edu	37	11	48510449	48510449	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:48510449G>A	uc010rhx.2	+	0	105	c.105G>A	c.(103-105)ttG>ttA	p.L35L		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCTACATTTTGACCATGGTGG	0.428000														1			7		0	0	0.003080	0	0
THSD1P1	374500	broad.mit.edu	37	13	52744146	52744146	+	RNA	SNP	T	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr13:52744146T>G	uc001vgm.1	-	20		c.2164A>C			THSD1P1_uc001vgk.2_Non-coding_Transcript|THSD1P1_uc010adx.1_Non-coding_Transcript|THSD1P1_uc010ady.1_Non-coding_Transcript|THSD1P1_uc001vgl.1_Non-coding_Transcript					Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		AGCAGTGGAATTATTTGGATT	0.348000														12			6		0	0	0.003080	0	0
BCMO1	53630	broad.mit.edu	37	16	81303860	81303860	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:81303860G>A	uc002fgn.1	+	6	1158	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	BCMO1_uc010vnp.1_Missense_Mutation_p.E245K	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	314					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CAACGCCTACGAAGAGGACGG	0.522000														29			53		0	0	0.003610	0	0
UBXN10	127733	broad.mit.edu	37	1	20517436	20517436	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:20517436G>A	uc001bdb.3	+	1	466	c.382G>A	c.(382-384)Gag>Aag	p.E128K	UBXN10_uc021oia.1_Missense_Mutation_p.E128K	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	128										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CCTGGAGGAGGAGGCTGTGGA	0.522000														41			30		0	0	0.001512	0	0
CNGA2	1260	broad.mit.edu	37	X	150912707	150912707	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chrX:150912707C>T	uc004fey.1	+	6	1956	c.1732C>T	c.(1732-1734)Ctc>Ttc	p.L578F		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	578					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCGGGAGATCCTCATGAAGGA	0.522000														35			80		0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	33998707	33998707	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:33998707C>T	uc001bxm.1	-	63	10291	c.10114G>A	c.(10114-10116)Gag>Aag	p.E3372K	CSMD2_uc001bxn.1_Missense_Mutation_p.E3228K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3228						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGCGGTGCTCGGAGCCACCC	0.667000														21			14		0	0	0.003163	0	0
COL9A3	1299	broad.mit.edu	37	20	61460844	61460844	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:61460844G>A	uc002ydm.3	+	19	1049	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	349	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGCGAGAAGGGAGAACGGGTA	0.692000														67			27		0	0	0.002096	0	0
MYH15	22989	broad.mit.edu	37	3	108129629	108129630	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:108129629_108129630GG>AA	uc003dxa.1	-	31	4412_4413	c.4355_4356CC>TT	c.(4354-4356)gcc>gTT	p.A1452V		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1452						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGTCCAGCCTGGCTGCTGCAGA	0.634000														30			9		0	0	0.004672	0	0
KRT71	112802	broad.mit.edu	37	12	52939362	52939362	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:52939362G>A	uc001sao.3	-	7	1417	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	449	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TGCTGACAGGGGAGGGAAATT	0.428000														50			25		0	0	0.005443	0	0
DNAJC22	79962	broad.mit.edu	37	12	49745140	49745140	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:49745140A>T	uc001rua.3	+	2	1282	c.881A>T	c.(880-882)cAt>cTt	p.H294L	DNAJC22_uc001rub.3_Missense_Mutation_p.H294L	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA.	294	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GAAGAAATACATCGGAGTTAC	0.517000														46			24		0	0	0.004656	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872769	51872769	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:51872769C>T	uc002xwo.3	+	1	3659	c.2772C>T	c.(2770-2772)ccC>ccT	p.P924P	TSHZ2_uc021wex.1_Silent_p.P921P	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	924					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H923R(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGGCCACCCCATCTTTTATT	0.478000														44			18		0	0	0.004990	0	0
WWC1	23286	broad.mit.edu	37	5	167868736	167868736	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:167868736C>T	uc003lzu.3	+	15	2423	c.2330C>T	c.(2329-2331)tCg>tTg	p.S777L	WWC1_uc003lzv.3_Missense_Mutation_p.S777L|WWC1_uc011den.2_Missense_Mutation_p.S777L|WWC1_uc003lzw.3_Missense_Mutation_p.S576L|WWC1_uc010jjf.1_Missense_Mutation_p.S44L	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	777	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGGGAGAGGTCGACTCGCTGG	0.607000														34			43		0	0	0.001951	0	0
NXN	64359	broad.mit.edu	37	17	726978	726978	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:726978G>A	uc002fsa.3	-	2	586	c.506C>T	c.(505-507)cCc>cTc	p.P169L	NXN_uc002fsb.1_Missense_Mutation_p.P56L|NXN_uc010vqd.2_5'Flank|NXN_uc010vqe.2_Missense_Mutation_p.P61L	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	169	Thioredoxin.				Wnt receptor signaling pathway|cell differentiation|cell redox homeostasis|multicellular organismal development	cytosol|nucleus	protein-disulfide reductase activity	p.P169P(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TTCCCTGAAGGGTTTCGGTCC	0.547000														25			17		0	0	0.000958	0	0
MUC16	94025	broad.mit.edu	37	19	9090179	9090179	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:9090179C>T	uc002mkp.3	-	0	1840	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	546	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGGTCTCTCTGTTTTCATG	0.527000														56			36		0	0	0.001287	0	0
CLDN15	24146	broad.mit.edu	37	7	100876137	100876137	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:100876137G>A	uc003uyg.2	-	2	806	c.441C>T	c.(439-441)ttC>ttT	p.F147F	CLDN15_uc003uyh.2_Silent_p.F147F	NM_014343	NP_001172009	P56746	CLD15_HUMAN	Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.	147					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			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)					ACAAGGGGTCGAAGAAGTCCC	0.682000														52			19		0	0	0.001523	0	0
TMCO2	127391	broad.mit.edu	37	1	40717248	40717248	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:40717248G>A	uc001cfe.2	+	1	624	c.531G>A	c.(529-531)ggG>ggA	p.G177G		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	Homo sapiens transmembrane and coiled-coil domains 2 (TMCO2), mRNA.	177						integral to membrane		p.G177R(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	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;6.3e-18)			CCACATCAGGGTTTACTTCCC	0.483000														54			29		0	0	0.001786	0	0
SLC41A3	54946	broad.mit.edu	37	3	125725967	125725967	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:125725967C>T	uc003eij.3	-	10	1582	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	SLC41A3_uc003eii.3_Silent_p.G426G|SLC41A3_uc003eil.3_Silent_p.G452G|SLC41A3_uc003eik.3_Silent_p.G416G|SLC41A3_uc011bkh.2_Silent_p.G335G	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	452						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CGAGCAGGTCCCCCAGCCCTG	0.577000														54			23		0	0	0.002299	0	0
ZNF217	7764	broad.mit.edu	37	20	52198478	52198478	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:52198478G>A	uc002xwq.4	-	0	1230	c.888C>T	c.(886-888)ttC>ttT	p.F296F	ZNF217_uc010gij.1_Silent_p.F288F	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	296					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCCAAGCCTGGAAGGTGGTGA	0.527000														120			59		0	0	0.003610	0	0
COQ2	27235	broad.mit.edu	37	4	84193274	84193274	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:84193274C>T	uc003hog.3	-	3	744	c.744G>A	c.(742-744)atG>atA	p.M248I	COQ2_uc011ccp.2_Non-coding_Transcript|COQ2_uc003hof.3_Non-coding_Transcript	NM_015697	NP_056512	Q96H96	COQ2_HUMAN	Homo sapiens coenzyme Q2 homolog, prenyltransferase (yeast) (COQ2), nuclear gene encoding mitochondrial protein, mRNA.	198					glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				AAATTCTTTTCATTAGTGGGT	0.368000														21			13		0	0	0.001368	0	0
CD72	971	broad.mit.edu	37	9	35611857	35611858	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:35611857_35611858CC>TT	uc003zxb.2	-	6	1017_1018	c.893_894GG>AA	c.(892-894)tgg>tAA	p.W298*	CD72_uc010mkt.1_Nonsense_Mutation_p.W83*	NM_001782	NP_001773	P21854	CD72_HUMAN	Homo sapiens CD72 molecule (CD72), mRNA.	298	C-type lectin.				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	p.W298C(2)		large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGGCCAGTCCAATATGAATT	0.431000											OREG0019172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			15		0	0	0.004672	0	0
TF	7018	broad.mit.edu	37	3	133476668	133476668	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:133476668G>A	uc003epu.2	+	12	2654	c.926G>A	c.(925-927)gGg>gAg	p.G309E	TF_uc011blt.2_Missense_Mutation_p.G182E|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.G309E	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	309	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TCTCCTCATGGGAAGGACCTG	0.448000														68			29		0	0	0.002096	0	0
NFATC1	4772	broad.mit.edu	37	18	77170938	77170939	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr18:77170938_77170939TC>CT	uc010xfg.2	+	1	1116_1117	c.663_664TC>CT	c.(661-666)tttccc>ttCTcc	p.P222S	NFATC1_uc002lnc.1_Missense_Mutation_p.P222S|NFATC1_uc010xff.1_Missense_Mutation_p.P222S|NFATC1_uc002lnd.3_Missense_Mutation_p.P222S|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.P222S|NFATC1_uc010xfi.1_Missense_Mutation_p.P209S|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.P209S|NFATC1_uc002lng.3_Missense_Mutation_p.P209S|NFATC1_uc010xfk.2_Missense_Mutation_p.P209S	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	222	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R222R(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGGAGGGCTTTCCCCGCGGGCT	0.708000														48			56		0	0	0.004672	0	0
SATB1	6304	broad.mit.edu	37	3	18462335	18462335	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:18462335C>T	uc003cbh.3	-	1	1860	c.125G>A	c.(124-126)aGa>aAa	p.R42K	SATB1_uc003cbi.3_Missense_Mutation_p.R42K|SATB1_uc003cbj.3_Missense_Mutation_p.R42K	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	42					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AAGCCTTCCTCTTCCTAGCGG	0.498000														77			64		0	0	0.003610	0	0
GPANK1	7918	broad.mit.edu	37	6	31632160	31632160	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:31632160C>A	uc003nvn.3	-	1	757	c.96G>T	c.(94-96)gaG>gaT	p.E32D	GPANK1_uc021yuu.1_Missense_Mutation_p.E32D|GPANK1_uc003nvo.4_Missense_Mutation_p.E32D|GPANK1_uc003nvp.4_Missense_Mutation_p.E32D|GPANK1_uc003nvq.3_Missense_Mutation_p.E32D|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc021yuv.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank	NM_033177	NP_149417	O95872	GPAN1_HUMAN	Homo sapiens G patch domain and ankyrin repeats 1 (GPANK1), transcript variant 2, mRNA.	32						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CCAGGGTGGACTCTGGCTTCT	0.622000														602			13		3.27435e-08	6.30983e-08	0.002450	1	0
SMC6	79677	broad.mit.edu	37	2	17906555	17906555	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:17906555C>T	uc002rco.3	-	8	991	c.695G>A	c.(694-696)aGa>aAa	p.R232K	SMC6_uc010exo.3_Missense_Mutation_p.R232K|SMC6_uc002rcn.3_Missense_Mutation_p.R232K|SMC6_uc002rcp.1_Missense_Mutation_p.R258K|SMC6_uc002rcq.2_Missense_Mutation_p.R258K|SMC6_uc002rcr.1_Missense_Mutation_p.R232K	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	232					DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.R232G(1)|p.E231fs*17(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCCTTTGTTCTTTCTTTCGT	0.303000														30			4		0	0	0.001168	0	0
PLCB1	23236	broad.mit.edu	37	20	8689378	8689378	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:8689378C>T	uc002wnb.3	+	11	1232	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	PLCB1_uc010zrb.1_Missense_Mutation_p.S309L|PLCB1_uc002wna.3_Missense_Mutation_p.S410L|PLCB1_uc002wnc.1_Missense_Mutation_p.S309L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	410	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATTCTCCTTTCGTTTGAGAAC	0.358000														34			12		0	0	0.002450	0	0
VCAM1	7412	broad.mit.edu	37	1	101186071	101186071	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:101186071A>C	uc001dti.3	+	1	325	c.104A>C	c.(103-105)tAt>tCt	p.Y35S	VCAM1_uc010ouj.2_Missense_Mutation_p.Y35S|VCAM1_uc001dtj.3_Missense_Mutation_p.Y35S	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	35	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAATCTAGATATCTTGCTCAG	0.428000														56			35		0	0	0.002522	0	0
AKR1B1	231	broad.mit.edu	37	7	134133183	134133183	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:134133183G>A	uc003vrp.1	-	5	689	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_001628	NP_001619	P15121	ALDR_HUMAN	Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA.	205					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CGGTCACCACGATGCCTTTGG	0.527000														80			96		0	0	0.003610	0	0
TAB1	10454	broad.mit.edu	37	22	39815629	39815629	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:39815629T>G	uc003axt.3	+	6	819	c.770T>G	c.(769-771)cTt>cGt	p.L257R	TAB1_uc003axr.3_Missense_Mutation_p.L333R|TAB1_uc011aok.2_Missense_Mutation_p.L91R|TAB1_uc003axu.1_Missense_Mutation_p.L257R	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	257	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GACATTGACCTTCTCAGGTAG	0.557000														92			40		0	0	0.001287	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475639	75475639	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr3:75475639T>C	uc003dpp.4	-	6	958	c.599A>G	c.(598-600)cAc>cGc	p.H200R	FAM86DP_uc003dps.4_Non-coding_Transcript|FAM86DP_uc003dpq.4_Missense_Mutation_p.H108R|FAM86DP_uc003dpr.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.									p.H284R(1)									CTCTGGGTTGTGGACGGTAAA	0.662000														85			5		0	0	0.001984	0	0
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:31237922G>C	uc001rjt.1	+	4	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding	p.R167T(18)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612000										Multiple Myeloma(12;0.14)				12			3		0	0	0.004672	0	0
PLCH2	9651	broad.mit.edu	37	1	2436369	2436369	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:2436369C>T	uc001aji.1	+	21	4239	c.3965C>T	c.(3964-3966)cCg>cTg	p.P1322L	PLCH2_uc010nyz.2_3'UTR|PLCH2_uc009vle.1_Missense_Mutation_p.P1075L|PLCH2_uc001ajj.1_3'UTR|PLCH2_uc001ajk.1_3'UTR|PLCH2_uc001ajl.1_Missense_Mutation_p.P175L	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	1323					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGCCTGGGCCCGGCTGGGGAG	0.721000														9			6		0	0	0.003080	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48556297	48556297	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:48556297C>T	uc010xzd.2	-	15	1904	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	PLA2G4C_uc002phw.3_Missense_Mutation_p.E448K|PLA2G4C_uc010elr.3_Missense_Mutation_p.E513K|PLA2G4C_uc002phx.3_Missense_Mutation_p.E513K	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	513	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTCTTGTTTTCCCTGACATTC	0.478000														77			28		0	0	0.001061	0	0
PLAT	5327	broad.mit.edu	37	8	42048910	42048910	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr8:42048910C>G	uc003xos.2	-	2	304	c.95G>C	c.(94-96)aGa>aCa	p.R32T	PLAT_uc010lxf.1_Missense_Mutation_p.R32T|PLAT_uc010lxg.1_Missense_Mutation_p.R32T|PLAT_uc003xot.2_Missense_Mutation_p.R32T|PLAT_uc011lcm.1_Missense_Mutation_p.R32T|PLAT_uc011lcn.1_Missense_Mutation_p.R32T	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	32					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCTGGCTCCTCTTCTGAATCG	0.592000														107			37		0	0	0.001485	0	0
KRT5	3852	broad.mit.edu	37	12	52908823	52908823	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr12:52908823C>T	uc001san.3	-	8	1839	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q		NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	559	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCCAGCCCTCGGCCACTGCT	0.622000														38			18		0	0	0.005443	0	0
LHX8	431707	broad.mit.edu	37	1	75608881	75608881	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:75608881C>T	uc001dgo.3	+	5	1132	c.468C>T	c.(466-468)gtC>gtT	p.V156V	LHX8_uc021oou.1_Silent_p.V156V|LHX8_uc001dgq.3_Silent_p.V95V	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	156	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AGGGGAATGTCTATCACTTGG	0.483000														39			18		0	0	0.001216	0	0
ZNF366	167465	broad.mit.edu	37	5	71740006	71740006	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:71740006G>A	uc003kce.1	-	4	1998	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CGTCTGACTGGAACACCGGCA	0.657000														45			97		0	0	0.003610	0	0
LUC7L	55692	broad.mit.edu	37	16	239275	239276	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:239275_239276GG>AA	uc002cgc.1	-	9	1148_1149	c.1037_1038CC>TT	c.(1036-1038)ccc>cTT	p.P346L	LUC7L_uc002cga.1_3'UTR|LUC7L_uc002cgd.1_Non-coding_Transcript|LUC7L_uc002cge.1_3'UTR|LUC7L_uc021szo.1_Missense_Mutation_p.P293L|LUC7L_uc002cgb.1_Missense_Mutation_p.P260L	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	Homo sapiens LUC7-like (S. cerevisiae) (LUC7L), transcript variant 2, mRNA.	346	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				TCCAGTCCGGGGGCCCTCGCTC	0.639000														105			25		0	0	0.004672	0	0
GLI2	2736	broad.mit.edu	37	2	121745856	121745856	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:121745856C>T	uc010flp.3	+	12	2396	c.2366C>T	c.(2365-2367)tCg>tTg	p.S789L	GLI2_uc002tmq.1_Missense_Mutation_p.S461L|GLI2_uc002tmr.1_Missense_Mutation_p.S444L|GLI2_uc002tmt.4_Missense_Mutation_p.S461L|GLI2_uc002tmu.4_Missense_Mutation_p.S444L	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	789	Ser-rich.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCGCGGCTGTCGGAGCTGTCC	0.716000														3			7		0	0	0.004482	0	0
DNAH17	8632	broad.mit.edu	37	17	76446802	76446802	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:76446802C>T	uc010dhp.2	-	66	10986	c.10861G>A	c.(10861-10863)Gag>Aag	p.E3621K	DNAH17_uc002jvq.3_5'Flank|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGGTGGTCTCCAGATTCTCC	0.607000														20			27		0	0	0.003954	0	0
SEC31B	25956	broad.mit.edu	37	10	102249076	102249077	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:102249076_102249077GG>AA	uc001krc.1	-	22	3205_3206	c.3103_3104CC>TT	c.(3103-3105)ccc>TTc	p.P1035F	SEC31B_uc010qpo.1_Missense_Mutation_p.P1034F|SEC31B_uc001krd.1_Missense_Mutation_p.P572F|SEC31B_uc001krf.1_Missense_Mutation_p.P467F|SEC31B_uc001kre.1_Missense_Mutation_p.P467F	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	1035	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane		p.P1035P(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGGCTGTGAGGGAAGAATCCCT	0.540000														47			44		0	0	0.004672	0	0
ZAN	7455	broad.mit.edu	37	7	100390093	100390094	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:100390093_100390094CC>TT	uc003uwj.3	+	42	7941_7942	c.7776_7777CC>TT	c.(7774-7779)gtcctc>gtTTtc	p.L2593F	ZAN_uc003uwk.3_Missense_Mutation_p.L2593F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.S586F	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2594					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTTGCCAGGTCCTCAGTGGGTA	0.673000														44			41		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179590745	179590745	+	Silent	SNP	A	G	G			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:179590745A>G	uc021vsy.1	-	66	16797	c.16572T>C	c.(16570-16572)ccT>ccC	p.P5524P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P2185P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6451	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTACTATAGGAGGGAAGC	0.383000														35			11		0	0	0.001368	0	0
MS4A10	341116	broad.mit.edu	37	11	60565890	60565891	+	Missense_Mutation	DNP	CC	TT	TT	rs141894920		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:60565890_60565891CC>TT	uc001npz.1	+	6	721_722	c.625_626CC>TT	c.(625-627)ccg>TTg	p.P209L		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	209						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ATGCCTTGTTCCGAATACACCA	0.545000														22			33		0	0	0.004672	0	0
C19orf75	284369	broad.mit.edu	37	19	51770743	51770743	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:51770743G>A	uc002pwb.1	+	4	908	c.527G>A	c.(526-528)gGa>gAa	p.G176E	C19orf75_uc010eov.1_Non-coding_Transcript|C19orf75_uc010ycw.1_Missense_Mutation_p.G82E	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	176						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						GAGGAACCAGGAAAACCCGTA	0.458000														83			39		0	0	0.001706	0	0
ZNF117	51351	broad.mit.edu	37	7	64439187	64439187	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:64439187G>A	uc003ttr.2	-	3	2047	c.762C>T	c.(760-762)tgC>tgT	p.C254C		NM_015852	NP_056936	Q03924	ZN117_HUMAN	Homo sapiens zinc finger protein 117 (ZNF117), mRNA.	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AAGCTTTGCCGCATTCTTCAC	0.368000														40			4		0	0	0.000602	0	0
SERPINB11	89778	broad.mit.edu	37	18	61387373	61387373	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr18:61387373C>T	uc002ljk.4	+	6	770	c.599C>T	c.(598-600)cCt>cTt	p.P200L	SERPINB11_uc010xes.2_Missense_Mutation_p.P26L|SERPINB11_uc010dqd.3_Missense_Mutation_p.P87L|SERPINB11_uc002ljj.4_Missense_Mutation_p.P87L|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	201					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTTAAAAGTCCTTTTCAGCTA	0.328000														22			16		0	0	0.004990	0	0
ECM2	1842	broad.mit.edu	37	9	95277481	95277481	+	Silent	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:95277481G>A	uc011lty.2	-	3	673	c.486C>T	c.(484-486)tcC>tcT	p.S162S	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Intron|ECM2_uc004asg.3_Intron	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	162					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GTAGAGAATAGGAGACTAATG	0.328000														18			8		0	0	0.004482	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072033	34072033	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:34072033G>A	uc002hjv.2	-	5	2511	c.2483C>T	c.(2482-2484)tCc>tTc	p.S828F		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	828					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATCCACCCGGGATGCCTCCCC	0.637000														62			43		0	0	0.003610	0	0
HEATR1	55127	broad.mit.edu	37	1	236748364	236748364	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:236748364C>T	uc001hyd.2	-	16	2354	c.2202G>A	c.(2200-2202)caG>caA	p.Q734Q	HEATR1_uc009xgh.2_5'Flank	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	734					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTATTTTTTTCTGCAACAAAC	0.383000														40			24		0	0	0.005443	0	0
RB1	5925	broad.mit.edu	37	13	48955550	48955550	+	Nonsense_Mutation	SNP	C	T	T	rs121913304		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr13:48955550C>T	uc001vcb.3	+	16	1832	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	556	Domain A.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.R556*(10)|p.?(8)|p.C553fs*53(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGTGAACATCGAATCATGGA	0.333000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				12			38		0	0	0.001287	0	0
ATG9B	285973	broad.mit.edu	37	7	150721026	150721026	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:150721026G>C	uc011kvc.2	-	0	561	c.485C>G	c.(484-486)tCc>tGc	p.S162C	ATG9B_uc003wig.4_5'Flank	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	162					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGTCTTGGGACCCCTCAGG	0.622000														8			6		0	0	0.001984	0	0
DKK2	27123	broad.mit.edu	37	4	107845783	107845783	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:107845783G>A	uc003hyi.3	-	2	1153	c.448C>T	c.(448-450)Cga>Tga	p.R150*	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Nonsense_Mutation_p.R150*	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	150					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCGTGGTTTCGATCTCTGTGC	0.448000														72			29		0	0	0.003755	0	0
TNS3	64759	broad.mit.edu	37	7	47479085	47479085	+	Splice_Site	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr7:47479085C>T	uc003tnw.3	-	6	508	c.150_splice	c.e6+1	p.L50_splice	TNS3_uc010kyo.1_Splice_Site_p.L50_splice	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	50	Phosphatase tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CACCGCTCACCAGGTAGTTGT	0.602000														16			25		0	0	0.005443	0	0
EXOC6	54536	broad.mit.edu	37	10	94700496	94700496	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr10:94700496C>T	uc010qnr.2	+	13	1416	c.1273C>T	c.(1273-1275)Cca>Tca	p.P425S	EXOC6_uc001kie.3_Missense_Mutation_p.P404S|EXOC6_uc001kig.3_Missense_Mutation_p.P409S|EXOC6_uc009xub.3_Missense_Mutation_p.P409S|EXOC6_uc009xuc.3_Missense_Mutation_p.P306S|EXOC6_uc001kih.3_Non-coding_Transcript	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	409					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTATGGTTTTCCAGTGAACCG	0.303000														77			102		0	0	0.003610	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562300	140562300	+	Silent	SNP	T	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:140562300T>C	uc003liv.3	+	0	1321	c.166T>C	c.(166-168)Ttg>Ctg	p.L56L		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	56	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGTTGGGGTTGACAGAGAT	0.527000														42			111		0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993591	140993591	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chrX:140993591C>T	uc004fbt.3	+	3	725	c.401C>T	c.(400-402)tCc>tTc	p.S134F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	134							protein binding	p.S134F(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCGAGTTCCTTCTTCTCC	0.502000										HNSCC(15;0.026)				27			54		0	0	0.003610	0	0
VN1R4	317703	broad.mit.edu	37	19	53770596	53770597	+	Missense_Mutation	DNP	GT	AG	AG	rs74977010		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:53770596_53770597GT>AG	uc010ydu.2	-	0	322_323	c.322_323AC>CT	c.(322-324)acg>CTg	p.T108L		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	108					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.I107I(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GGAGCTGACCGTGATCACCTGG	0.505000										HNSCC(26;0.072)				45			16		0	0	0.004672	0	0
OR4D1	26689	broad.mit.edu	37	17	56233094	56233094	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:56233094C>T	uc010wno.2	+	0	580	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGATACCTCCCTCCTGGAGTT	0.498000														48			30		0	0	0.002096	0	0
RALBP1	10928	broad.mit.edu	37	18	9524620	9524620	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr18:9524620T>A	uc002kob.3	+	4	1305	c.1082T>A	c.(1081-1083)tTc>tAc	p.F361Y	RALBP1_uc002koc.3_Missense_Mutation_p.F361Y	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	361	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TATGTGTTTTTCACACATGTG	0.383000														42			10		0	0	0.001368	0	0
NRSN2	80023	broad.mit.edu	37	20	334186	334186	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr20:334186C>T	uc002wdi.4	+	3	1060	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN	Homo sapiens neurensin 2 (NRSN2), mRNA.	174						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CACCCATTTTCCGCAATGCCA	0.622000														89			48		0	0	0.003610	0	0
EEF1B2	1933	broad.mit.edu	37	2	207024727	207024728	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr2:207024727_207024728CC>TT	uc002vbg.1	+	1	136_137	c.24_25CC>TT	c.(22-27)agccct>agTTct	p.P9S	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.P9S|EEF1B2_uc002vbh.1_Missense_Mutation_p.P9S|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	9	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						ACCTGAAAAGCCCTGCCGGCCT	0.634000														92			18		0	0	0.004672	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628247	173628247	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:173628247T>C	uc001gja.1	-	1	372	c.311A>G	c.(310-312)aAt>aGt	p.N104S	ANKRD45_uc001gjb.4_Missense_Mutation_p.N104S	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	120										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GGTTTTTTCATTCAGATTCAC	0.353000														106			22		0	0	0.001882	0	0
PPP6C	5537	broad.mit.edu	37	9	127915934	127915934	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:127915934G>A	uc010mwv.3	-	6	879	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	PPP6C_uc004bpg.4_Nonsense_Mutation_p.Q183*|PPP6C_uc010mww.3_Nonsense_Mutation_p.Q161*|PPP6C_uc011lzr.2_Nonsense_Mutation_p.Q36*	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	183					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GGAATTTCCTGATTCCGTTCG	0.428000														34			20		0	0	0.001216	0	0
CSMD2	114784	broad.mit.edu	37	1	34037262	34037262	+	Silent	SNP	C	T	T			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr1:34037262C>T	uc001bxm.1	-	50	8004	c.7827G>A	c.(7825-7827)gaG>gaA	p.E2609E	CSMD2_uc001bxn.1_Silent_p.E2611E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2611	Sushi 16.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GATACTGTGTCTCAAAGATAA	0.502000														70			26		0	0	0.001512	0	0
MYH4	4622	broad.mit.edu	37	17	10355767	10355767	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr17:10355767G>A	uc002gmn.3	-	25	3425	c.3314C>T	c.(3313-3315)gCa>gTa	p.A1105V	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1105					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TAGCTGTATTGCAAGGGCTTG	0.353000														38			18		0	0	0.001216	0	0
DHX15	1665	broad.mit.edu	37	4	24556366	24556368	+	In_Frame_Del	DEL	AAG	-	-			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr4:24556366_24556368delAAG	uc003gqx.3	-	4	1228_1230	c.1060_1062delCTT	c.(1060-1062)cttdel	p.L354del		NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	354	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAGTTAAGAAAAGAAGAAGATCT	0.340													---	108	---	---	30	---					
MAST4	375449	broad.mit.edu	37	5	65892767	65892768	+	In_Frame_Ins	INS	-	GCC	GCC			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr5:65892767_65892768insGCC	uc021xzk.1	+	0	592_593	c.284_285insGCC	c.(283-285)ctg>ctGCCg	p.98_99insP	MAST4_uc010iwz.3_In_Frame_Ins_p.98_99insP|MAST4_uc003jur.4_In_Frame_Ins_p.98_99insP	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	98						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			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)		GTCCTTGCGCTGCCGCCGCCGC	0.792													---	1	---	---	6	---					
VARS	7407	broad.mit.edu	37	6	31762891	31762915	+	Frame_Shift_Del	DEL	CCTCCCCATCCGGGACCCTCCCCAG	-	-			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:31762891_31762915delCCTCCCCATCCGGGACCCTCCCCAG	uc003nxe.3	-	1	503_527	c.80_104delCTGGGGAGGGTCCCGGATGGGGAGG	c.(79-105)gctggggagggtcccggatggggaggafs	p.A27fs	VARS_uc011doi.1_Intron	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	27					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			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)	GGGGTGGGCTCCTCCCCATCCGGGACCCTCCCCAGCCTCCCCATA	0.684													---	274	---	---	33	---					
C6orf223	221416	broad.mit.edu	37	6	43970503	43970504	+	In_Frame_Ins	INS	-	GCG	GCG	rs72369323		TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr6:43970503_43970504insGCG	uc003own.3	+	3	389_390	c.369_370insGCG	c.(367-372)insGCG	p.132_133insA	AK024736_uc003owm.1_Intron|C6orf223_uc003owo.3_3'UTR	NM_153246	NP_694978	Q8N319	CF223_HUMAN	Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA.	132	Ala-rich.			A -> AA (in Ref. 2; AAH32706).						central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGTAGAGCGCgcggcggcggc	0.777													---	18	---	---	7	---					
GOLGA2	2801	broad.mit.edu	37	9	131022359	131022379	+	In_Frame_Del	DEL	TCCTTCAGCTCGCTCAGCTTC	-	-			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr9:131022359_131022379delTCCTTCAGCTCGCTCAGCTTC	uc011maw.2	-	17	1780_1800	c.1767_1787delGAAGCTGAGCGAGCTGAAGGA	c.(1765-1788)gagaagctgagcgagctgaaggaa>gaa	p.589_596EKLSELKE>E	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_In_Frame_Del_p.62_69EKLSELKE>E|JA429730_uc022bod.1_5'Flank|Metazoa_SRP_uc022bof.1_5'Flank|DQ583692_uc022bog.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	589						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GGTTACCGTTTCCTTCAGCTCGCTCAGCTTCTCCTGCAGCT	0.629													---	99	---	---	33	---					
FOLH1	2346	broad.mit.edu	37	11	49168447	49168447	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:49168447delA	uc001ngy.3	-	18	2375	c.2114delT	c.(2113-2115)ttcfs	p.F705fs	FOLH1_uc001ngx.3_Frame_Shift_Del_p.S105fs|FOLH1_uc009yly.3_Frame_Shift_Del_p.F690fs|FOLH1_uc009ylz.3_Frame_Shift_Del_p.F659fs|FOLH1_uc001ngz.3_Frame_Shift_Del_p.F674fs|FOLH1_uc009yma.3_Frame_Shift_Del_p.F397fs	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	705					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AATTCCTGGGAATGACTCCCC	0.433													---	27	---	---	42	---					
TMEM225	338661	broad.mit.edu	37	11	123753892	123753892	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr11:123753892delA	uc001pzi.3	-	3	839	c.631delT	c.(631-633)tccfs	p.S211fs		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	211						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTGTTTAGGGAATTCACAGTG	0.398													---	35	---	---	43	---					
SEC14L5	9717	broad.mit.edu	37	16	5055987	5055987	+	Frame_Shift_Del	DEL	G	-	-			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr16:5055987delG	uc002cye.2	+	11	1555	c.1375delG	c.(1375-1377)ggafs	p.G459fs		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	459	CRAL-TRIO.					integral to membrane|intracellular	transporter activity	p.G459A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCAGGGACCCGGAGGCCTTGT	0.537													---	23	---	---	12	---					
OR7E24	26648	broad.mit.edu	37	19	9361741	9361741	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:9361741delT	uc002mlb.1	+	0	22	c.22delT	c.(22-24)tttfs	p.F8fs		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCAATTCTCTTTTTTTTTTT	0.388													---	5	---	---	4	---					
ICAM1	3383	broad.mit.edu	37	19	10395189	10395214	+	Frame_Shift_Del	DEL	CCAGCCCAGCCACTGGGCCCGAGGGC	-	-	rs1801714	byFrequency	TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr19:10395189_10395214delCCAGCCCAGCCACTGGGCCCGAGGGC	uc002mnq.2	+	4	1355_1380	c.1036_1061delCCAGCCCAGCCACTGGGCCCGAGGGC	c.(1036-1062)ccagcccagccactgggcccgagggccfs	p.P346fs	ICAM1_uc010xle.1_Frame_Shift_Del_p.P124fs|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	346	Ig-like C2-type 4.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GAATGGGGTTCCAGCCCAGCCACTGGGCCCGAGGGCCCAGCTCCTG	0.628													---	108	---	---	12	---					
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	-	-			TCGA-GN-A267-06A-21D-A196-08	TCGA-GN-A267-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89875e3e-979f-415f-8b5a-6eb72c2efda2	a2223f1c-ac5f-4f20-9d06-89cd36f262ee	g.chr22:38120029_38120031delCCT	uc003atr.3	+	6	1737_1739	c.1466_1468delCCT	c.(1465-1470)gcctcc>gcc	p.S491del	TRIOBP_uc003atu.3_In_Frame_Del_p.S319del|TRIOBP_uc003atq.1_In_Frame_Del_p.S491del|TRIOBP_uc003ats.1_In_Frame_Del_p.S319del	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	491					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													---	139	---	---	7	---