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
MGAT2	4247	broad.mit.edu	37	14	50088617	50088617	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr14:50088617A>G	ENST00000305386.2	+	1	1129	c.631A>G	c.(631-633)Atc>Gtc	p.I211V	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	211					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					ATTGGGGTGCATCAATGCTGA	0.493000													39	71					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31239513	31239513	+	Missense_Mutation	SNP	C	C	T	rs41548913		TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr6:31239513C>T	ENST00000383329.3	-	2	220	c.206G>A	c.(205-207)gGg>gAg	p.G69E	HLA-C_ENST00000376228.5_Missense_Mutation_p.G69E			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	69	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		p.G69E(5)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCGCGGCTCCCCTCTCGGACT	0.697000													4	50					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93182496	93182496	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr14:93182496C>T	ENST00000393218.2	-	6	726	c.389G>A	c.(388-390)gGc>gAc	p.G130D	LGMN_ENST00000557434.1_Missense_Mutation_p.G130D|LGMN_ENST00000334869.4_Missense_Mutation_p.G130D|LGMN_ENST00000555699.1_Missense_Mutation_p.G130D	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	130					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CAGGACTTTGCCGGATCCTAT	0.468000													4	139					0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100063871	100063871	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr4:100063871C>T	ENST00000508393.1	-	3	301	c.136G>A	c.(136-138)Gtt>Att	p.V46I	ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000265512.7_Missense_Mutation_p.V27I|ADH4_ENST00000423445.1_Missense_Mutation_p.V46I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.V46I			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	27					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GCTACTTCAACCTCTTCAATG	0.507000													4	79					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98928751	98928751	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr2:98928751C>G	ENST00000477737.1	+	28	4028	c.3824C>G	c.(3823-3825)cCc>cGc	p.P1275R	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1275										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCAGCCCTGCCCTGTACTCTC	0.627000													18	38					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25470489	25470489	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr2:25470489T>G	ENST00000264709.3	-	8	1322	c.985A>C	c.(985-987)Atg>Ctg	p.M329L	DNMT3A_ENST00000402667.1_Missense_Mutation_p.M106L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.M140L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.M329L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	329	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGAACCACATGACCCAGCGG	0.617000			"""Mis, F, N, S"""		AML								15	46					0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115661652	115661652	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr10:115661652C>A	ENST00000369301.3	+	7	1579	c.1367C>A	c.(1366-1368)cCc>cAc	p.P456H		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	456					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GAAAGAGACCCCATGGTAATG	0.453000													39	54					4.92203e-23	4.92203e-23	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	52					0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16046372	16046372	+	Silent	SNP	C	C	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr1:16046372C>G	ENST00000375799.3	+	6	836	c.609C>G	c.(607-609)acC>acG	p.T203T	PLEKHM2_ENST00000375793.2_Silent_p.T203T	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	203	Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TCACCTCCACCAACCTGGAGT	0.557000													10	18					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417562	54417562	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr14:54417562G>A	ENST00000245451.4	-	4	808	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	BMP4_ENST00000559087.1_Missense_Mutation_p.R139C|BMP4_ENST00000558984.1_Missense_Mutation_p.R139C|BMP4_ENST00000417573.1_Missense_Mutation_p.R139C	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	139					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AAGAGGAAACGAAAAGCAGAG	0.498000													6	65					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128236	68128236	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr17:68128236A>G	ENST00000585558.1	+	4	501	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	KCNJ16_ENST00000283936.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000589377.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000586462.1_Missense_Mutation_p.Y42C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.Y3C			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	3					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGAATGAGCTATTACGGCAGC	0.428000													9	20					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70989772	70989772	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr14:70989772T>A	ENST00000256389.3	-	2	2097	c.1853A>T	c.(1852-1854)aAt>aTt	p.N618I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	568	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TACTCCCACATTTTCACACTG	0.453000													19	42					0	0	1	0	0
SAT1	6303	broad.mit.edu	37	X	23803819	23803819	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chrX:23803819G>A	ENST00000379270.4	+	6	541	c.362G>A	c.(361-363)cGc>cAc	p.R121H	SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379254.1_Missense_Mutation_p.R93H	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	121	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	ATGAGGTGTCGCTGCAGCAGC	0.418000													4	84					0	0	1	0	0
TTPAL	79183	broad.mit.edu	37	20	43113157	43113157	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr20:43113157T>C	ENST00000372904.3	+	4	769	c.626T>C	c.(625-627)aTt>aCt	p.I209T	TTPAL_ENST00000372906.2_Intron|TTPAL_ENST00000262605.4_Missense_Mutation_p.I209T	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	209	CRAL-TRIO.					intracellular	transporter activity	p.I209T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAAAAGGTGATTGGCATCCTC	0.468000													33	66					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467612	164467612	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr2:164467612T>G	ENST00000333129.3	-	3	1044	c.730A>C	c.(730-732)Agt>Cgt	p.S244R	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	244	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TAGCTGTAACTGGAGAGGTTA	0.612000													21	29					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	56					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170128	90170128	+	Silent	SNP	G	G	C			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr4:90170128G>C	ENST00000333209.3	-	2	1652	c.1134C>G	c.(1132-1134)gcC>gcG	p.A378A		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	378			A -> V (in dbSNP:rs6811370).							breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACTCCTGGGGGGCTAGCGTGC	0.562000													18	62					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879387	144879387	+	Nonsense_Mutation	SNP	G	G	A	rs149886351		TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr1:144879387G>A	ENST00000369359.4	-	30	4509	c.4471C>T	c.(4471-4473)Cga>Tga	p.R1491*	PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1491*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1355*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1355*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1311*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1355					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R1355*(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGTCCTTTCGTAGGACCAAG	0.493000			T	PDGFRB	MPD								5	405					0	0	1	0	0
RAB40A	142684	broad.mit.edu	37	X	102755566	102755566	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chrX:102755566T>A	ENST00000372633.1	-	1	2237	c.119A>T	c.(118-120)gAg>gTg	p.E40V	RAB40A_ENST00000304236.1_Missense_Mutation_p.E40V			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	40					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GTACGGGGACTCAGCTGCACC	0.622000													29	76					0	0	1	0	0
EIF3G	8666	broad.mit.edu	37	19	10229616	10229616	+	Silent	SNP	G	G	A			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr19:10229616G>A	ENST00000253108.4	-	4	210	c.168C>T	c.(166-168)ccC>ccT	p.P56P	EIF3G_ENST00000587168.1_5'UTR	NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	56						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TGACCTCCTTGGGAGGCGGCA	0.582000													14	26					0	0	1	0	0
GOLGA2B	0	broad.mit.edu	37	12	100552782	100552782	+	RNA	SNP	C	C	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr12:100552782C>G	ENST00000397112.4	-	0	1477					NR_036632.1															large_intestine(1)|lung(3)	4						CACAGCTTTGCTTTGAGCTTT	0.597000													3	5					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9389817	9389817	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr20:9389817A>G	ENST00000378501.2	+	20	1967	c.1952A>G	c.(1951-1953)tAt>tGt	p.Y651C	PLCB4_ENST00000414679.2_Missense_Mutation_p.Y663C|PLCB4_ENST00000378473.3_Missense_Mutation_p.Y663C|PLCB4_ENST00000378493.1_Missense_Mutation_p.Y651C|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.Y651C|PLCB4_ENST00000278655.4_Missense_Mutation_p.Y651C	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	651	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCACTGAACTATCAAACCCCA	0.502000													16	26					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24435093	24435093	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr1:24435093delC	ENST00000330966.7	-	2	196	c.34delG	c.(34-36)acfs	p.D12fs	MYOM3_ENST00000374434.3_Frame_Shift_Del_p.D12fs|MYOM3_ENST00000329601.7_Frame_Shift_Del_p.D12fs			Q5VTT5	MYOM3_HUMAN	myomesin 3	12										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCGGGGGTCCCCCGCACCT	0.667													2	4	---	---	---	---					
STAG3L4	0	broad.mit.edu	37	7	66767611	66767611	+	RNA	DEL	T	T	-	rs12531701	by1000genomes	TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr7:66767611delT	ENST00000416602.2	+	0	4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ACCGGACTGCTTTTTTTTTTT	0.542													2	4	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13698822	13698822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr10:13698822delC	ENST00000357447.2	-	22	3135	c.2767delG	c.(2767-2769)ccfs	p.A923fs	FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.A908fs|FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.A923fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	923						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCTGAGACGGCGGCACGGCCC	0.731													2	4	---	---	---	---					
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	GAG	-	rs66598941		TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr17:1631341_1631343delGAG	ENST00000409644.1	+	1	3088_3090	c.3088_3090delGAG	c.(3088-3090)del	p.E1033del	WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_5'UTR|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	305										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695													3	4	---	---	---	---					
ATP13A1	57130	broad.mit.edu	37	19	19768144	19768144	+	Splice_Site	DEL	C	C	-			TCGA-WB-A80Q-01A-11D-A35I-08	TCGA-WB-A80Q-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cb12458-17ed-4f57-a546-46a9310c2575	ac1eb099-c749-4947-8a16-0230cee47df6	g.chr19:19768144delC	ENST00000357324.6	-	4	777		c.e4+1		ATP13A1_ENST00000291503.5_Splice_Site	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGCTGCTTTACCTGAAATACA	0.567													2	4	---	---	---	---					
