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
CLK1	1195	broad.mit.edu	37	2	201719735	201719735	+	Missense_Mutation	SNP	C	A	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr2:201719735C>A	uc002uwe.2	-	9	1313	c.1132G>T	c.(1132-1134)Gta>Tta	p.V378L	CLK1_uc010zhi.1_Missense_Mutation_p.V420L|CLK1_uc002uwf.2_Missense_Mutation_p.V152L|CLK1_uc002uwg.2_Missense_Mutation_p.V227L	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	378	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACTGGAAATACGGTAAACCCA	0.388000														80			48		9.72345e-25	1.05814e-24	1	1	0
PCDHB1	29930	broad.mit.edu	37	5	140433491	140433491	+	Missense_Mutation	SNP	G	T	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:140433491G>T	uc003lik.1	+	0	2513	c.2436G>T	c.(2434-2436)caG>caT	p.Q812H		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	812					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATGACCAGGTATCTGATG	0.418000														139			31		6.04164e-23	6.38688e-23	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48749054	48749054	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:48749054C>T	uc003xqi.3	-	58	7850	c.7793G>A	c.(7792-7794)aGt>aAt	p.S2598N	PRKDC_uc003xqj.3_Missense_Mutation_p.S2598N	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2599	KIP-binding.		R -> Q (in dbSNP:rs55923149).		cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAGAACAGTACTTCGGAAACG	0.463000								Non-homologous end-joining						26			3		0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579878	35579878	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:35579878T>A	uc001bym.3	+	9	2593	c.2447T>A	c.(2446-2448)tTa>tAa	p.L816*	ZMYM1_uc001byn.3_Nonsense_Mutation_p.L816*|ZMYM1_uc010ohu.2_Nonsense_Mutation_p.L797*|ZMYM1_uc001byo.3_Nonsense_Mutation_p.L456*|ZMYM1_uc009vut.3_Nonsense_Mutation_p.L741*	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	816						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GATCGTACATTACTATCTGTG	0.343000														121			4		0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193038698	193038698	+	Missense_Mutation	SNP	A	G	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:193038698A>G	uc001gss.3	+	1	890	c.514A>G	c.(514-516)Aaa>Gaa	p.K172E	TROVE2_uc001gsu.2_Intron|TROVE2_uc001gsv.2_Missense_Mutation_p.K172E|TROVE2_uc009wyp.3_Missense_Mutation_p.K172E|TROVE2_uc001gsw.3_Missense_Mutation_p.K172E|TROVE2_uc009wyq.3_Missense_Mutation_p.K172E|TROVE2_uc001gsx.2_Missense_Mutation_p.K172E	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	172	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TACAAAATATAAACAGAGAAA	0.458000														110			43		0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120575209	120575209	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:120575209C>T	uc003yos.2	-	24	2551	c.2465G>A	c.(2464-2466)aGc>aAc	p.S822N	ENPP2_uc011lic.2_Missense_Mutation_p.S308N|ENPP2_uc003yor.2_Missense_Mutation_p.S405N|ENPP2_uc010mdd.2_Missense_Mutation_p.S795N|ENPP2_uc003yot.2_Missense_Mutation_p.S770N	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	770					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGTGATGATGCTGTAGTAGTG	0.507000														68			8		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661752	77661752	+	Missense_Mutation	SNP	A	T	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:77661752A>T	uc011cbx.2	+	4	3379	c.2426A>T	c.(2425-2427)tAt>tTt	p.Y809F	SHROOM3_uc011cbz.1_Missense_Mutation_p.Y633F|SHROOM3_uc003hkf.1_Missense_Mutation_p.Y684F|SHROOM3_uc003hkg.3_Missense_Mutation_p.Y587F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	809					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCCATAACTATAGGCCCCAC	0.552000														80			29		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154280951	154280951	+	Missense_Mutation	SNP	T	A	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:154280951T>A	uc003lvx.3	-	20	3045	c.2962A>T	c.(2962-2964)Atc>Ttc	p.I988F	GEMIN5_uc011ddk.1_Missense_Mutation_p.I987F	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	988					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTTTGTGGATGGAAAGTAGG	0.453000														103			85		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5653565	5653565	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr11:5653565G>C	uc001mbh.3	+	1	161	c.4G>C	c.(4-6)Gct>Cct	p.A2P	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Missense_Mutation_p.A356P|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.A2P|TRIM6-TRIM34_uc001mbj.3_Missense_Mutation_p.A2P	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	356						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CAGTGCAATGGCTTCAAAAAT	0.517000											OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		124			23		0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50961303	50961303	+	Missense_Mutation	SNP	G	T	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr22:50961303G>T	uc003blx.4	+	17	1604	c.1482G>T	c.(1480-1482)caG>caT	p.Q494H	NCAPH2_uc003blv.3_Missense_Mutation_p.Q493H|NCAPH2_uc003blr.4_Missense_Mutation_p.Q493H	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	493					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		AGCTGAGCCAGCGCATCAGGG	0.647000														59			5		5.9392e-07	5.9392e-07	1	1	0
MALSU1	115416	broad.mit.edu	37	7	23349054	23349054	+	Silent	SNP	T	C	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr7:23349054T>C	uc003swd.1	+	3	629	c.597T>C	c.(595-597)taT>taC	p.Y199Y	MALSU1_uc003swe.3_Non-coding_Transcript	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	Homo sapiens chromosome 7 open reading frame 30 (C7orf30), mRNA.	199						mitochondrion											TACGTTCTTATGATGACCAGT	0.403000														154			12		0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56181836	56181836	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:56181836C>G	uc003jqw.4	+	16	4561	c.4060C>G	c.(4060-4062)Ctc>Gtc	p.L1354V		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1354	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGAACAGTTACTCCGTGGCCT	0.338000														139			3		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86697783	86697783	+	Missense_Mutation	SNP	G	T	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr15:86697783G>T	uc002blz.1	+	2	327	c.247G>T	c.(247-249)Gcc>Tcc	p.A83S		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	83					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCGTGTGTTTGCCTCCAGTGG	0.522000														42			6		3.09899e-07	3.18507e-07	1	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21928276	21928276	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:21928276G>A	uc001bev.3	-	17	1826	c.1808C>T	c.(1807-1809)gCt>gTt	p.A603V	RAP1GAP_uc001bew.3_Missense_Mutation_p.A582V|RAP1GAP_uc001bey.3_Missense_Mutation_p.A544V|RAP1GAP_uc001bex.3_Missense_Mutation_p.A518V	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	518					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CTTCTGACCAGCCGGAGGGCT	0.667000														65			12		0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36674128	36674128	+	Missense_Mutation	SNP	C	G	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:36674128C>G	uc002odn.3	-	4	848	c.740G>C	c.(739-741)gGt>gCt	p.G247A	ZNF565_uc010ees.3_Missense_Mutation_p.G182A|ZNF565_uc002odo.3_Missense_Mutation_p.G247A	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AGGTTTGACACCAGTATGAAG	0.438000														111			10		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560437	44560437	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr18:44560437C>T	uc002lcr.1	-	0	1552	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	400					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCAGATTTTCCAGTCTTTTT	0.478000														164			50		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71339788	71339788	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:71339788T>C	uc011cat.2	+	2	338	c.50T>C	c.(49-51)tTc>tCc	p.F17S	MUC7_uc011cau.2_Missense_Mutation_p.F17S|MUC7_uc003hfj.3_Missense_Mutation_p.F17S	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	17						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGTGCTTGCTTCTCGGTAAGT	0.388000														97			49		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692932	89692932	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr10:89692932T>A	uc001kfb.3	+	4	1448	c.416T>A	c.(415-417)tTa>tAa	p.L139*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	139	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L139*(12)|p.?(5)|p.R55fs*1(5)|p.L139fs*40(4)|p.L139fs*7(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.Y138C(2)|p.Y138fs*9(1)|p.L139V(1)|p.I135fs*6(1)|p.L139F(1)|p.Y138*(1)|p.Y138D(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTGCATATTTATTACATCGG	0.383000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				66			20		0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70805633	70805633	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:70805633T>C	uc003kbp.1	+	16	2977	c.2714T>C	c.(2713-2715)aTg>aCg	p.M905T	BDP1_uc003kbn.1_Missense_Mutation_p.M905T|BDP1_uc003kbo.3_Missense_Mutation_p.M905T	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	905	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTGAAAGCAATGGGAAGAGAG	0.418000														86			32		0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131112771	131112771	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr9:131112771G>A	uc004but.3	+	5	1079	c.794G>A	c.(793-795)cGc>cAc	p.R265H	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	265					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						AGGTATTACCGCATGGCTGCC	0.627000														59			4		0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719096	52719096	+	Missense_Mutation	SNP	T	A	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:52719096T>A	uc002pyp.3	+	6	1167	c.872T>A	c.(871-873)aTg>aAg	p.M291K	PPP2R1A_uc010ydk.2_Missense_Mutation_p.M236K|PPP2R1A_uc010epm.1_Missense_Mutation_p.M331K|PPP2R1A_uc002pyq.3_Missense_Mutation_p.M112K	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	291	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		cagaacCTGATGAAAGACTGT	0.612000			Mis		clear cell ovarian carcinoma									137			4		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660335	77660335	+	Missense_Mutation	SNP	G	C	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:77660335G>C	uc011cbx.2	+	4	1962	c.1009G>C	c.(1009-1011)Gcc>Ccc	p.A337P	SHROOM3_uc011cbz.1_Missense_Mutation_p.A161P|SHROOM3_uc003hkf.1_Missense_Mutation_p.A212P|SHROOM3_uc003hkg.3_Missense_Mutation_p.A115P	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	337					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGGCCCGAGCCTCAGCAAA	0.552000														95			48		0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40092678	40092678	+	Missense_Mutation	SNP	G	A	A	rs139668981	byFrequency	TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:40092678G>A	uc001cdp.3	-	4	539	c.488C>T	c.(487-489)tCg>tTg	p.S163L	HEYL_uc010oiw.2_Missense_Mutation_p.S135L	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.	163	Pro-rich.				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGCGTGGGCGAAGGCTCCAT	0.652000														51			40		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40113746	40113746	+	Missense_Mutation	SNP	A	G	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:40113746A>G	uc003guy.4	+	5	1879	c.1541A>G	c.(1540-1542)gAt>gGt	p.D514G	N4BP2_uc010ifq.3_Missense_Mutation_p.D434G|N4BP2_uc010ifr.3_Missense_Mutation_p.D434G	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	514						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAATTATAGATAATACAAAC	0.274000														133			124		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110454843	110454843	+	Splice_Site	SNP	T	A	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr4:110454843T>A	uc003hzk.3	+	22	3643	c.3588_splice	c.e22+2	p.M1196_splice	SEC24B_uc003hzl.3_Splice_Site_p.M1161_splice|SEC24B_uc011cfp.2_Splice_Site_p.M1226_splice|SEC24B_uc011cfq.2_Splice_Site_p.M1195_splice|SEC24B_uc011cfr.2_Splice_Site_p.M1160_splice	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	1196					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGAAAATGGTCAGTAGATTT	0.284000														188			27		0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155029547	155029547	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr1:155029547C>T	uc001fgr.1	+	10	1219	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_Missense_Mutation_p.A58V|ADAM15_uc010pet.1_Missense_Mutation_p.A357V|ADAM15_uc010peu.1_Missense_Mutation_p.A390V|ADAM15_uc001fgx.1_Missense_Mutation_p.A373V|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.A373V|ADAM15_uc001fgs.1_Missense_Mutation_p.A373V|ADAM15_uc010pev.1_Missense_Mutation_p.A383V|ADAM15_uc001fgu.1_Missense_Mutation_p.A373V|ADAM15_uc001fgv.1_Missense_Mutation_p.A373V|ADAM15_uc001fgw.1_Missense_Mutation_p.A373V	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	373	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCAGCCCCAGCCAAGACCTGC	0.642000														52			13		0	0	1	0	0
SNTB2	6645	broad.mit.edu	37	16	69279566	69279566	+	Silent	SNP	G	A	A	rs143099113		TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr16:69279566G>A	uc002ewu.3	+	1	662	c.642G>A	c.(640-642)ccG>ccA	p.P214P	SNTB2_uc021tkg.1_Non-coding_Transcript	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) (SNTB2), mRNA.	214	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CAGATCTGCCGTGGGAAGGTG	0.448000														263			107		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133894135	133894135	+	Silent	SNP	T	C	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr8:133894135T>C	uc003ytw.3	+	5	707	c.666T>C	c.(664-666)agT>agC	p.S222S		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	222	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGACCTTCAGTTCCTTCCAGA	0.483000														87			44		0	0	1	0	0
FAM169B	283777	broad.mit.edu	37	15	98982901	98982901	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr15:98982901C>T	uc002buk.1	-	6	788	c.538G>A	c.(538-540)Gca>Aca	p.A180T		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.	180										large_intestine(3)|lung(3)|urinary_tract(1)	7						GGCTGCCCTGCCAGCCCGGCA	0.587000														50			12		0	0	1	0	0
FANCF	2188	broad.mit.edu	37	11	22646539	22646539	+	Missense_Mutation	SNP	A	C	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr11:22646539A>C	uc001mql.1	-	0	849	c.818T>G	c.(817-819)gTc>gGc	p.V273G		NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN	Homo sapiens Fanconi anemia, complementation group F (FANCF), mRNA.	273					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						ACCCAGATAGACAGGAGACAG	0.552000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		133			5		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134648162	134648162	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr10:134648162C>T	uc021qbc.1	-	47	6963	c.6862G>A	c.(6862-6864)Gcc>Acc	p.A2288T		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	449										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGTACCTGGCCTTGGAGAGG	0.637000														20			4		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	33020702	33020702	+	RNA	SNP	T	G	G			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr16:33020702T>G	uc021thd.1	+	0		c.50T>G								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.																		GGGGGGTCCCTGAGACTGTCC	0.582000														137			59		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40366101	40366101	+	Silent	SNP	T	C	C			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr19:40366101T>C	uc002omp.4	-	29	14141	c.14133A>G	c.(14131-14133)gcA>gcG	p.A4711A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4711						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)			AGGTAGCCACTGCAGGACAGA	0.672000														33			22		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302050	179302050	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr5:179302050G>A	uc003mlh.3	-	11	2073	c.2038C>T	c.(2038-2040)Ccc>Tcc	p.P680S	TBC1D9B_uc003mli.3_Missense_Mutation_p.P680S|TBC1D9B_uc003mlj.3_Missense_Mutation_p.P680S|TBC1D9B_uc011dgv.2_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	680	Rab-GAP TBC.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTCGAAGGGCATGACGCTG	0.602000														130			4		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89711928	89711928	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BJ-A0Z0-01A-11D-A10S-08	TCGA-BJ-A0Z0-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae1da8dd-8775-4fda-b7c0-0b6b132507b9	21f02008-1bd8-4ea7-8191-2a5332832fc6	g.chr10:89711928delA	uc001kfb.3	+	5	1578	c.546delA	c.(544-546)ttafs	p.L182fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	182	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.L182fs*16(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.L182F(2)|p.Y27_N212>Y(2)|p.L181fs*2(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.V175fs*3(1)|p.L182*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTACCTGTTAAAGAATCATC	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	77	---	---	87	---					
