Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PCDHGC5	56097	broad.mit.edu	37	5	140783165	140783165	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr5:140783165G>T	uc003lkh.2	+	0	646	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.D216Y	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	216	Cadherin 2.				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)			CACGGCCTCGGATGGCGGCGA	0.597000													10	52					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32371547	32371547	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:32371547G>A	uc001utt.3	+	16	2067	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	RXFP2_uc010aba.3_Missense_Mutation_p.E642K	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	666						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTCCGGGTGGAAATACCAGG	0.408000													21	28					0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66061863	66061863	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:66061863C>A	uc001ohl.3	+	1	258	c.146C>A	c.(145-147)aCg>aAg	p.T49K		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	49						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CTGCTCCTCACGCTGCTCATC	0.706000													33	44					0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39233710	39233710	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:39233710T>A	uc002ojd.1	-	1	579	c.270A>T	c.(268-270)gaA>gaT	p.E90D		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	90	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCTCATGTCTTCACAGATGA	0.572000													9	68					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10464234	10464234	+	Silent	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:10464234C>T	uc002moc.4	-	20	3375	c.2997G>A	c.(2995-2997)caG>caA	p.Q999Q	TYK2_uc010dxe.3_Silent_p.Q814Q	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	999	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGAGCAGCAGCTGGGCCAGCC	0.677000													10	10					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21663037	21663037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr18:21663037C>T	uc002kuw.3	+	5	1428	c.976C>T	c.(976-978)Cga>Tga	p.R326*	TTC39C_uc002kuu.3_Nonsense_Mutation_p.R265*	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	326							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						ACGGATACAACGACTAGAGGT	0.393000													6	38					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946577	66946577	+	Silent	SNP	G	G	A	rs145180383	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:66946577G>A	uc002eql.3	-	9	1466	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	CDH16_uc010cdy.3_Silent_p.G424G|CDH16_uc021tjx.1_Silent_p.G424G|CDH16_uc002eqm.3_Silent_p.G327G	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	424	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CACCCTCTGCGCCTGCCAGGT	0.637000													14	29					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47588909	47588909	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr20:47588909G>T	uc002xtx.4	+	10	1624	c.1472G>T	c.(1471-1473)aGt>aTt	p.S491I		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	491					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACATCAACAAGTTCTTTTGAG	0.413000													12	22					0	0	1	0	0
FAM216A	29902	broad.mit.edu	37	12	110924408	110924408	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:110924408C>T	uc001tqu.4	+	4	955	c.506C>T	c.(505-507)aCa>aTa	p.T169I	FAM216A_uc010sxz.1_Missense_Mutation_p.T74I|FAM216A_uc009zvo.2_Missense_Mutation_p.T169I	NM_013300	NP_037432	Q8WUB2	CL024_HUMAN	Homo sapiens chromosome 12 open reading frame 24 (C12orf24), mRNA.	169																	CCTTGCACTACATGGCGACAT	0.507000													66	93					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133465321	133465321	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:133465321G>A	uc003epu.2	+	5	1765	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	TF_uc011bls.1_Missense_Mutation_p.V13I|TF_uc011blt.2_5'UTR|TF_uc003epw.2_Missense_Mutation_p.V13I|TF_uc003epv.2_Missense_Mutation_p.V13I	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	13					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)	GGTCTGCGCCGTCCTGGGTGA	0.736000													3	25					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27835611	27835611	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:27835611G>T	uc001ric.2	+	22	2617	c.2240G>T	c.(2239-2241)gGt>gTt	p.G747V	PPFIBP1_uc010sjr.1_Missense_Mutation_p.G578V|PPFIBP1_uc001rib.2_Missense_Mutation_p.G741V|PPFIBP1_uc001ria.3_Missense_Mutation_p.G716V|PPFIBP1_uc001rid.2_Missense_Mutation_p.G594V|PPFIBP1_uc001rif.2_Missense_Mutation_p.G254V	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	747	SAM 2.				cell adhesion	plasma membrane	protein binding	p.Y746D(1)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CGGGTTGATGGTCGAATGCTA	0.448000													35	77					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104134472	104134472	+	Missense_Mutation	SNP	G	G	A	rs139559759	by1000genomes	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:104134472G>A	uc001tjw.3	+	54	6005	c.5819G>A	c.(5818-5820)cGg>cAg	p.R1940Q	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1940					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCCGGGAGCGGTGCAGCCTG	0.577000													22	88					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35318439	35318439	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr10:35318439T>G	uc010qer.2	-	14	1677	c.1573A>C	c.(1573-1575)Agt>Cgt	p.S525R	CUL2_uc021ppa.1_Missense_Mutation_p.S519R|CUL2_uc009xma.3_Missense_Mutation_p.S375R|CUL2_uc001ixv.3_Missense_Mutation_p.S506R|CUL2_uc001ixw.3_Missense_Mutation_p.S506R|CUL2_uc010qes.2_Missense_Mutation_p.S443R	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	506					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.S524S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATTTGAAAACTAATTCCCAAA	0.318000													8	15					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149602570	149602570	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr5:149602570G>A	uc003lru.2	-	16	1630	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	CAMK2A_uc003lrt.2_Missense_Mutation_p.A483V	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	472					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.K472Q(1)|p.G471S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGAGGGCGCCCCAGATCT	0.642000													62	135					0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112732806	112732806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:112732806G>A	uc003dzr.3	-	2	396	c.335C>T	c.(334-336)tCt>tTt	p.S112F	C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Missense_Mutation_p.S111F|C3orf17_uc011bib.2_Missense_Mutation_p.S15F|C3orf17_uc011bic.2_Missense_Mutation_p.S15F|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Intron|C3orf17_uc003dzt.3_Missense_Mutation_p.S15F|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	112						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTACTTGGAAGAAAACAACTC	0.408000													84	133					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65461496	65461496	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:65461496G>T	uc001ssk.3	-	4	988	c.613C>A	c.(613-615)Cac>Aac	p.H205N		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	205	EGF-like 1.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGAGGTCCGTGGAACCCATCA	0.507000			T	HMGA2	pleomorphic salivary gland adenoma								5	23					0	0	1	0	0
SLC7A5	8140	broad.mit.edu	37	16	87872329	87872329	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:87872329G>A	uc002fkm.3	-	5	1106	c.1034C>T	c.(1033-1035)aCa>aTa	p.T345I		NM_003486	NP_003477	Q01650	LAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.	345					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CCTGGAGGATGTGAACAGGGA	0.587000													19	64					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61030014	61030014	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr18:61030014C>T	uc010dpw.3	-	1	351	c.196G>A	c.(196-198)Gag>Aag	p.E66K	KDSR_uc010xem.2_Missense_Mutation_p.E66K	NM_002035	NP_002026	Q06136	KDSR_HUMAN	Homo sapiens 3-ketodihydrosphingosine reductase (KDSR), mRNA.	66					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AGCCTTACCTCATTTCGTGCA	0.413000													18	24					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827440	96827440	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr10:96827440T>G	uc001kkb.3	-	1	272	c.177A>C	c.(175-177)aaA>aaC	p.K59N	CYP2C8_uc010qoa.2_5'UTR|CYP2C8_uc010qoc.2_Intron|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_5'UTR|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	59					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GACCATAGACTTTTGAGAACT	0.388000													12	16					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561671	147561671	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr4:147561671C>G	uc003ikv.3	+	1	1189	c.941C>G	c.(940-942)gCg>gGg	p.A314G		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	314	POU-specific.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AATATGATCGCGCTCAAACCC	0.602000													18	71					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40421659	40421659	+	Silent	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:40421659G>A	uc002omp.4	-	4	2270	c.2262C>T	c.(2260-2262)tgC>tgT	p.C754C		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	754	Cys-rich.|TIL 1.					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)			AAGCAGGGCCGCAGAGCTCAT	0.716000													4	8					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23401783	23401783	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr22:23401783C>A	uc002zwt.3	-	6	1062	c.904G>T	c.(904-906)Gcc>Tcc	p.A302S		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	302							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCCTCGGGGGCCTCTGCCAGC	0.642000													32	136					0	0	1	0	0
SLC24A5	283652	broad.mit.edu	37	15	48431347	48431347	+	Silent	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr15:48431347C>A	uc001zwe.3	+	6	1126	c.1053C>A	c.(1051-1053)atC>atA	p.I351I	SLC24A5_uc010bel.3_Silent_p.I291I|AK021664_uc001zwf.1_5'Flank|SLC24A5_uc001zwk.3_5'Flank	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	Homo sapiens solute carrier family 24, member 5 (SLC24A5), mRNA.	351					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TTACATATATCCTGGTTTGGA	0.303000													17	13					0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000													3	15					0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4496308	4496308	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:4496308G>A	uc002fyf.1	+	2	639	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	SMTNL2_uc002fye.2_Missense_Mutation_p.R47Q	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	191										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CTCTCCTTGCGGCTGCCCCAC	0.622000													14	43					0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95343	95343	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chrGL000209.1:95343C>A	uc002quk.1	+	6	884	c.829C>A	c.(829-831)Cct>Act	p.P277T	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	277							receptor activity										GGACCAAGAGCCTGCCGGGGA	0.502000													19	137					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61914805	61914805	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:61914805G>A	uc010deb.1	-	1	714	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	SMARCD2_uc010wpt.1_Missense_Mutation_p.R85W|SMARCD2_uc010dea.1_Missense_Mutation_p.R58W	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	133					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TCTTACCCCCGGCGCTGGGCA	0.582000													57	67					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152646275	152646275	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr6:152646275C>G	uc021zhb.1	-	78	15824	c.15601G>C	c.(15601-15603)Gac>Cac	p.D5201H	SYNE1_uc003qot.4_Missense_Mutation_p.D5130H|SYNE1_uc003qou.4_Missense_Mutation_p.D5201H|SYNE1_uc010kiz.3_Missense_Mutation_p.D956H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5201					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCCTGGTCCTGGGCCACA	0.537000										HNSCC(10;0.0054)			78	79					0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466880	50466880	+	Silent	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:50466880C>T	uc001vdk.2	+	0	2336	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GACCTCCTTTCCCTCCACCTC	0.532000													6	50					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767667	39767667	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:39767667C>G	uc002hxg.4	-	2	840	c.701G>C	c.(700-702)aGg>aCg	p.R234T	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	234	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CAGGTCAGTCCTGGCCAGGGT	0.632000													44	68					0	0	1	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	A	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000													4	38					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204236639	204236639	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:204236639A>G	uc001hau.3	-	4	561	c.244T>C	c.(244-246)Ttc>Ctc	p.F82L		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	82	PH.							p.F82L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ACCAGGACGAACCAGCGCTTG	0.587000													17	55					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73396007	73396007	+	Silent	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:73396007A>G	uc001vjc.3	+	5	998	c.693A>G	c.(691-693)aaA>aaG	p.K231K	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Silent_p.K231K|PIBF1_uc010aep.3_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	231						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAGATCGAAAAAACTACTCTG	0.348000													11	7					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128450335	128450335	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:128450335G>A	uc003vnv.2	+	11	2359	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	CCDC136_uc003vnu.2_Intron|CCDC136_uc003vnx.2_Missense_Mutation_p.R464H|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_Missense_Mutation_p.R258H	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	648						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGCTGCGACGTTTCAAAGAG	0.433000													8	46					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17418005	17418005	+	Silent	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:17418005G>A	uc011kye.2	+	8	1635	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	SLC7A2_uc011kyc.2_Silent_p.Q489Q|SLC7A2_uc011kyd.2_Silent_p.Q528Q	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	489					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAACACAGCAGTCAGCTTCTC	0.532000													59	42					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21829421	21829421	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:21829421T>G	uc003xaa.4	+	4	563	c.461T>G	c.(460-462)aTt>aGt	p.I154S	XPO7_uc010ltj.1_Non-coding_Transcript	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	154					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GGTGTCACAATTTTATCTCAG	0.353000													42	30					0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15467811	15467811	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:15467811G>C	uc003bzs.1	-	1	466	c.208C>G	c.(208-210)Cta>Gta	p.L70V	METTL6_uc011avp.1_Missense_Mutation_p.L70V|METTL6_uc003bzt.1_Missense_Mutation_p.L70V|EAF1_uc003bzu.3_5'Flank|EAF1_uc011avq.2_5'Flank	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	Homo sapiens methyltransferase like 6 (METTL6), mRNA.	70							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CATGATCTTAGCTCCTCAAAC	0.398000													9	51					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113440906	113440906	+	Splice_Site	SNP	G	G	A	rs150642424	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:113440906G>A	uc001tuj.3	+	6	1319	c.1179_splice	c.e6+1	p.R393_splice	OAS2_uc001tui.1_Splice_Site_p.R393_splice	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	393	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGATTGTCCGGGTGAGCACT	0.453000													12	243					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:47696425A>C	uc002ipg.3	-	4	695	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_uc010dbk.3_Missense_Mutation_p.F133C|SPOP_uc002ipb.3_Missense_Mutation_p.F133C|SPOP_uc002ipc.3_Missense_Mutation_p.F133C|SPOP_uc002ipd.3_Missense_Mutation_p.F133C|SPOP_uc002ipe.3_Missense_Mutation_p.F133C|SPOP_uc002ipf.3_Missense_Mutation_p.F133C	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)|p.F133C(6)|p.F133S(4)|p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448000										Prostate(2;0.17)			48	84					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117685282	117685282	+	Silent	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:117685282G>A	uc001twn.2	-	18	3507	c.2796C>T	c.(2794-2796)tgC>tgT	p.C932C	NOS1_uc021ren.1_Silent_p.C562C|NOS1_uc021reo.1_Silent_p.C562C|NOS1_uc001twm.2_Silent_p.C898C	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	898	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCCGAAGGCGCAAAAGTGAG	0.557000													12	67					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72340364	72340364	+	Silent	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:72340364C>A	uc002jkm.4	+	5	597	c.459C>A	c.(457-459)atC>atA	p.I153I	KIF19_uc002jkj.2_Silent_p.I153I|KIF19_uc002jkk.2_Intron|KIF19_uc002jkl.2_Intron	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	153	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCCGTCAGATCTACAATGAGA	0.627000													32	39					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748102	19748102	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:19748102G>T	uc009zzj.3	-	4	1359	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	418					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGGCCTCAGAGAACTCCCCCT	0.587000													16	211					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755487	38755487	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:38755487G>A	uc003ciq.3	-	20	3766	c.3766C>T	c.(3766-3768)Cgg>Tgg	p.R1256W		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1256					sensory perception	voltage-gated sodium channel complex		p.R1256W(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CGCAGTGGCCGCAGAGCGCGA	0.527000													60	88					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31974158	31974158	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr6:31974158A>G	uc021yve.1	+	0	800	c.238A>G	c.(238-240)Aga>Gga	p.R80G	CYP21A2_uc021yvd.1_Missense_Mutation_p.K103R			Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	0							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGTGTCTAAGAACTACCCG	0.607000													3	24					0	0	1	0	0
DACT3	147906	broad.mit.edu	37	19	47151969	47151969	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:47151969C>T	uc010ekq.3	-	3	1734	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K		NM_145056	NP_659493	Q96B18	DACT3_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis) (DACT3), mRNA.	554										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		GATTCTCCCTCGCTGGCGCTC	0.746000													5	31					0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238668784	238668784	+	Silent	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr2:238668784A>G	uc002vxe.3	+	9	1117	c.825A>G	c.(823-825)caA>caG	p.Q275Q	LRRFIP1_uc002vxc.3_Silent_p.Q465Q|LRRFIP1_uc010znm.2_Silent_p.Q219Q|LRRFIP1_uc002vxd.3_Silent_p.Q251Q|LRRFIP1_uc002vxf.3_Silent_p.Q219Q	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 3, mRNA.	275			Q -> R (in dbSNP:rs3213869).		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			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)		TTGGATACCAAGGTCCTACCA	0.433000													20	45					0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24629908	24629908	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr22:24629908C>T	uc002zzp.4	-	1	655	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	GGT5_uc002zzo.4_Missense_Mutation_p.V80I|GGT5_uc002zzr.4_Missense_Mutation_p.V80I|GGT5_uc002zzq.4_Missense_Mutation_p.V80I|GGT5_uc011ajm.2_Intron|GGT5_uc011ajn.1_Intron	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	80					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGGTTGACGACGCTGGTGCAG	0.622000													39	30					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23640966	23640966	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:23640966C>T	uc002dlx.1	-	4	2709	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	837					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.V836I(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGTACCTGTTCGACGGAATGT	0.448000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					7	36					0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964427	48964427	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:48964427G>C	uc010kyv.1	+	0	271	c.159G>C	c.(157-159)gaG>gaC	p.E53D						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		TCGAATATGAGAACTTCTCCG	0.373000													18	59					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135991	55135991	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:55135991C>A	uc010rif.2	+	0	632	c.632C>A	c.(631-633)cCc>cAc	p.P211H		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GATTTGTATCCCTTATTGAAA	0.413000													16	85					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42456581	42456581	+	Silent	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr15:42456581C>T	uc001zpd.3	-	19	2185	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	VPS39_uc001zpc.3_Silent_p.R667R|VPS39_uc001zpb.3_Silent_p.R13R	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	678					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CACAGATGAGCCGGCCTGGAT	0.507000													6	40					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912565	23912565	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:23912565G>A	uc001uon.2	-	9	6039	c.5450C>T	c.(5449-5451)aCg>aTg	p.T1817M	SACS_uc001uoo.2_Missense_Mutation_p.T1670M|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1817					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGAAGCCACGTGGTACACTC	0.488000													31	106					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37960746	37960746	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:37960746T>A	uc003tfp.3	+	0	584	c.565T>A	c.(565-567)Tac>Aac	p.Y189N	EPDR1_uc003tfq.3_Missense_Mutation_p.Y69N|EPDR1_uc010kxh.3_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), transcript variant 1, mRNA.	69					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCTGCTCTCCTACGACGGGCT	0.706000													14	38					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64608211	64608211	+	Missense_Mutation	SNP	G	G	A	rs141411649	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:64608211G>A	uc001dbj.2	+	6	1451	c.1052G>A	c.(1051-1053)cGt>cAt	p.R351H	ROR1_uc001dbi.4_Missense_Mutation_p.R351H|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	351	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.R351C(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ACCGCCCTTCGTTTCCCAGAG	0.547000													8	66					0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61323611	61323611	+	Missense_Mutation	SNP	G	G	C	rs144496851	by1000genomes	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:61323611G>C	uc001nrv.3	-	1	152	c.100C>G	c.(100-102)Ctc>Gtc	p.L34V	SYT7_uc009ynr.3_Missense_Mutation_p.L34V|SYT7_uc001nrx.1_Non-coding_Transcript	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	34						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGCCGCAGAGGACGACAGTG	0.662000													13	23					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112126	59112126	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr14:59112126A>T	uc001xdw.3	+	3	949	c.785A>T	c.(784-786)aAc>aTc	p.N262I	DACT1_uc010trv.2_5'UTR|DACT1_uc001xdx.3_Missense_Mutation_p.N225I|DACT1_uc010trw.2_5'UTR	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	262					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTGTCTAAAAACGGGAATGAT	0.493000													9	66					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579131	33579131	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:33579131G>A	uc001rll.1	-	1	748	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	151						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTAATTAAATGTTCTTTTAAA	0.403000													64	68					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	7	38299789	38299789	+	Missense_Mutation	SNP	A	A	G	rs117590081	by1000genomes	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:38299789A>G	uc003tge.1	-	6	1225	c.848T>C	c.(847-849)aTg>aCg	p.M283T	ARPP21_uc022aby.1_Intron|ARPP21_uc003tfv.3_Intron|ARPP21_uc003tfx.1_5'Flank|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_Missense_Mutation_p.M79T|ARPP21_uc003tgc.1_Missense_Mutation_p.M79T|ARPP21_uc003tgd.1_Missense_Mutation_p.M79T			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						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						GAGGAGGTACATGTAATATGC	0.423000													3	21					0	0	1	0	0
TFDP2	7029	broad.mit.edu	37	3	141671514	141671514	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:141671514A>T	uc003eun.4	-	12	1636	c.1182T>A	c.(1180-1182)gaT>gaA	p.D394E	TFDP2_uc003euk.4_Missense_Mutation_p.D366E|TFDP2_uc003eul.4_Missense_Mutation_p.D334E|TFDP2_uc011bnf.2_Missense_Mutation_p.D297E|TFDP2_uc011bng.2_Missense_Mutation_p.D258E|TFDP2_uc003eum.4_Missense_Mutation_p.D334E	NM_001178139	NP_001171613	Q14188	TFDP2_HUMAN	Homo sapiens transcription factor Dp-2 (E2F dimerization partner 2) (TFDP2), transcript variant 3, mRNA.	394					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						CCACTTCTGCATCCAAGCATA	0.483000													4	53					0	0	1	0	0
OR2T35	403244	broad.mit.edu	37	1	248801912	248801912	+	Silent	SNP	C	C	G	rs146851066	by1000genomes	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:248801912C>G	uc001ies.1	-	0	648	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 35 (OR2T35), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V216V(2)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542000													3	20					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31277424	31277424	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:31277424C>T	uc002ebr.3	+	4	481	c.383C>T	c.(382-384)tCc>tTc	p.S128F	ITGAM_uc002ebq.3_Missense_Mutation_p.S128F	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	128					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGTTTGGATCCAACCTACGG	0.612000													17	46					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67759236	67759236	+	Silent	SNP	G	G	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:67759236G>C	uc001omw.1	-	11	1652	c.1572C>G	c.(1570-1572)cgC>cgG	p.R524R		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	525					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TGCGGGGCTGGCGCGGGGCCA	0.721000													2	0					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43917132	43917133	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:43917132_43917133insA	uc003tiw.3	-	5	1986_1987	c.1929_1930insT	c.(1927-1932)tttgccfs	p.F643fs	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Frame_Shift_Ins_p.F600fs|URGCP_uc003tiv.3_Frame_Shift_Ins_p.F568fs|URGCP_uc003tix.3_Frame_Shift_Ins_p.F634fs|URGCP_uc003tiy.3_Frame_Shift_Ins_p.F600fs|URGCP_uc003tiz.3_Frame_Shift_Ins_p.F600fs|URGCP_uc011kbj.2_Frame_Shift_Ins_p.F600fs	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	643					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGAAGTGGGCAAAACGCCTCT	0.629													12	67	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23914964	23914967	+	Frame_Shift_Del	DEL	AAGG	-	-			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:23914964_23914967delAAGG	uc001uon.2	-	9	3637_3640	c.3048_3051delCCTT	c.(3046-3051)gtccttfs	p.V1016fs	SACS_uc001uoo.2_Frame_Shift_Del_p.V869fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1016					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	p.E1015K(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAGATTCTCAAGGACCCATAACA	0.343													24	52	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													3	5	---	---	---	---					
AK301679	0	broad.mit.edu	37	17	18343315	18343316	+	RNA	INS	-	C	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:18343315_18343316insC	uc010vya.1	+	0		c.94_95insC								Homo sapiens cDNA FLJ56791 complete cds, highly similar to Keratin, type I cytoskeletal 16.																		ACCTGCAGCCACCAGTTCACCT	0.629													5	1	---	---	---	---					
