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
CXorf61	203413	broad.mit.edu	37	X	115592946	115592946	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:115592946C>T	uc004eqj.1	-	1	424	c.304G>A	c.(304-306)Ggt>Agt	p.G102S		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.	102						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						CCTCTGAAACCCTTGCTAAGT	0.423000													4	190					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2331127	2331127	+	Silent	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr16:2331127G>A	uc002cpy.1	-	27	4972	c.4260C>T	c.(4258-4260)gcC>gcT	p.A1420A	ABCA3_uc010bsk.1_Silent_p.A1362A	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1420	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGGTCTTCCCGGCTCCATTGA	0.617000													4	100					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95849061	95849061	+	Silent	SNP	C	C	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:95849061C>T	uc001kjm.3	+	0	232	c.210C>T	c.(208-210)ttC>ttT	p.F70F	PLCE1_uc001kjk.3_Intron|PLCE1_uc010qnx.2_Intron|BC035380_uc001kjl.1_Intron	NM_001165979	NP_001159451	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 2, mRNA.	0					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTTGGCTCTTCCCGCTCTCTG	0.512000													59	106					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661248	44661248	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr19:44661248A>G	uc002oym.3	+	5	1386	c.1079A>G	c.(1078-1080)cAg>cGg	p.Q360R	ZNF234_uc002oyl.4_Missense_Mutation_p.Q360R	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q360R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCACAATTTCAGGCCCATCGG	0.443000													3	39					0	0	1	0	0
THOC1	9984	broad.mit.edu	37	18	265318	265318	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr18:265318A>C	uc002kkj.4	-	2	214	c.174T>G	c.(172-174)atT>atG	p.I58M	THOC1_uc002kkl.2_Missense_Mutation_p.I58M	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	58					RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTCTTCTAGAATACCTCTGA	0.269000													7	14					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40857116	40857116	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr17:40857116T>A	uc010wgu.2	-	15	1979	c.1943A>T	c.(1942-1944)tAc>tTc	p.Y648F	EZH1_uc002iaz.3_Missense_Mutation_p.Y642F|EZH1_uc002iba.3_Missense_Mutation_p.Y633F|EZH1_uc010wgt.2_Missense_Mutation_p.Y572F|EZH1_uc010wgv.2_Missense_Mutation_p.Y602F|EZH1_uc010wgw.2_Missense_Mutation_p.Y503F|EZH1_uc010cyp.2_Missense_Mutation_p.Y543F|EZH1_uc010cyq.2_Missense_Mutation_p.Y559F|EZH1_uc010cyo.1_Missense_Mutation_p.Y305F	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	642	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTCACCACAGTATTCAGAAAT	0.507000													26	64					0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135744495	135744495	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:135744495C>G	uc002tue.1	-	6	1978	c.1947G>C	c.(1945-1947)atG>atC	p.M649I	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.M536I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.M377I|YSK4_uc002tui.4_Missense_Mutation_p.M666I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	649							ATP binding|protein serine/threonine kinase activity	p.A649T(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTCTTTGAACATATCACTAT	0.393000													3	221					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30745657	30745657	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr20:30745657G>A	uc002wxj.2	+	13	1625	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I	TM9SF4_uc010zts.1_Missense_Mutation_p.V371I|TM9SF4_uc002wxk.2_Missense_Mutation_p.V447I	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	464						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTGCCCCTCGTCTACTTGGG	0.602000													67	132					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144466691	144466691	+	Silent	SNP	A	A	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr4:144466691A>G	uc003ijg.3	+	17	2814	c.2352A>G	c.(2350-2352)ttA>ttG	p.L784L		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	784					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TATTTGAATTACTGGAAAAAG	0.338000													3	68					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3177999	3177999	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:3177999G>A	uc001igp.3	+	20	2270	c.2194G>A	c.(2194-2196)Gtg>Atg	p.V732M	PFKP_uc001igq.3_Missense_Mutation_p.V724M|PFKP_uc009xhr.3_Missense_Mutation_p.V694M|PFKP_uc009xht.3_Missense_Mutation_p.V470M|PFKP_uc009xhu.3_Missense_Mutation_p.V238M	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	732					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TTTTCAACCTGTGGCAGAGCT	0.398000													4	68					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110765417	110765417	+	Silent	SNP	C	C	T	rs143310856	by1000genomes	TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr12:110765417C>T	uc001tqk.4	+	7	1253	c.690C>T	c.(688-690)acC>acT	p.T230T	ATP2A2_uc001tql.4_Silent_p.T230T|ATP2A2_uc021rdt.1_Silent_p.T78T	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	230					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GAGTTAACACCGAAATTGGCA	0.463000													7	251					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155004126	155004126	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr1:155004126C>T	uc001fgm.3	-	3	743	c.663G>A	c.(661-663)atG>atA	p.M221I	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	221						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTATGACCATCATGCAGCTGT	0.567000													10	112					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72968798	72968798	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:72968798T>G	uc003pga.3	+	17	3114	c.3037T>G	c.(3037-3039)Tta>Gta	p.L1013V	RIMS1_uc011dyb.2_Missense_Mutation_p.L638V|RIMS1_uc003pgc.3_Missense_Mutation_p.L639V|RIMS1_uc010kaq.3_Missense_Mutation_p.L486V|RIMS1_uc011dyc.2_Missense_Mutation_p.L487V|RIMS1_uc010kar.3_Missense_Mutation_p.L406V|RIMS1_uc011dyd.2_Missense_Mutation_p.L472V|RIMS1_uc003pge.3_Missense_Mutation_p.L230V|RIMS1_uc003pgf.3_Missense_Mutation_p.L229V|RIMS1_uc003pgi.3_Missense_Mutation_p.L229V|RIMS1_uc003pgg.3_Missense_Mutation_p.L230V|RIMS1_uc003pgh.3_Missense_Mutation_p.L229V|RIMS1_uc003pgd.3_Missense_Mutation_p.L230V|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.L639V|RIMS1_uc010kas.1_Missense_Mutation_p.L472V	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1013					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TAGTCAGTATTTATCAGAACA	0.363000													20	37					0	0	1	0	0
CD40LG	959	broad.mit.edu	37	X	135741330	135741330	+	Missense_Mutation	SNP	G	G	A	rs11575982	byFrequency	TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:135741330G>A	uc004faa.3	+	4	614	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	CD40LG_uc010nsd.3_Missense_Mutation_p.R160Q	NM_000074	NP_000065	P29965	CD40L_HUMAN	Homo sapiens CD40 ligand (CD40LG), mRNA.	181					B cell proliferation|anti-apoptosis|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	p.R181L(4)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TGTTCCAATCGGGAAGCTTCG	0.463000									Immune Deficiency with Hyper-IgM				166	306					0	0	1	0	0
SPIN4	139886	broad.mit.edu	37	X	62570519	62570519	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chrX:62570519C>A	uc004dvf.3	-	0	700	c.180G>T	c.(178-180)aaG>aaT	p.K60N		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	Homo sapiens spindlin family, member 4 (SPIN4), mRNA.	60					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GCACAGTACCCTTCCACTGCT	0.522000													3	20					0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204594418	204594418	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:204594418T>C	uc002vah.4	+	2	679	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L	CD28_uc010zio.2_Missense_Mutation_p.F56L|CD28_uc010ftx.3_Missense_Mutation_p.F34L|CD28_uc002vaj.4_Intron|CD28_uc002vag.1_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	153					T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TTCTAAGCCCTTTTGGGTGCT	0.443000													3	186					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134960104	134960104	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr3:134960104G>A	uc003eqt.3	+	12	2836	c.2461G>A	c.(2461-2463)Gga>Aga	p.G821R	EPHB1_uc003equ.3_Missense_Mutation_p.G382R	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	821	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATGTCATTTGGAGAGAGACC	0.517000													112	207					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161134119	161134119	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:161134119A>C	uc003qtm.4	+	4	621	c.509A>C	c.(508-510)gAa>gCa	p.E170A		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	170	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.P169R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACTGATCCAGAAAAGAGATAT	0.463000													5	197					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70411612	70411612	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr10:70411612T>C	uc001jok.4	+	4	4791	c.4286T>C	c.(4285-4287)aTa>aCa	p.I1429T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1429					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GATCGAGTTATACAAAAAGAC	0.428000													7	131					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9763385	9763385	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr17:9763385C>T	uc002gmd.1	+	6	892	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	298					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCCTGAGAGGCGGCTGTGGCC	0.542000													10	23					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14558718	14558718	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr3:14558718A>G	uc021wtn.1	-	12	1448	c.1448T>C	c.(1447-1449)tTg>tCg	p.L483S		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	387	PDZ 4.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGTTGAAGACAAGGCTGGGGA	0.612000													4	52					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49366339	49366339	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr20:49366339A>T	uc002xvo.3	+	2	676	c.433A>T	c.(433-435)Att>Ttt	p.I145F		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	145	Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGTGTCTTCTATTATAGACGT	0.438000													27	46					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241724413	241724413	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:241724413G>A	uc010fzk.3	-	6	960	c.713C>T	c.(712-714)aCg>aTg	p.T238M	KIF1A_uc002vzy.3_Missense_Mutation_p.T238M|KIF1A_uc002vzz.2_Missense_Mutation_p.T238M	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	238	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CACCTTCTCCGTGGTGATATT	0.612000													4	165					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231425	21231425	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr2:21231425T>A	uc002red.3	-	25	8443	c.8315A>T	c.(8314-8316)gAt>gTt	p.D2772V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2772					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGCATTTGCATCTAATGTGAA	0.428000													10	174					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151239804	151239804	+	Splice_Site	SNP	G	G	C			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:151239804G>C	uc021zgs.1	+	9	1131	c.987_splice	c.e9+1	p.Q329_splice	MTHFD1L_uc011een.2_Splice_Site|MTHFD1L_uc003qob.3_Splice_Site_p.Q328_splice|MTHFD1L_uc021zgt.1_Splice_Site_p.Q263_splice|MTHFD1L_uc003qoc.3_Splice_Site_p.Q276_splice	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	328	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGCGAATTCAGGTTTGTTCAA	0.403000													4	114					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275656	152275656	+	Silent	SNP	G	G	A	rs147335121		TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr1:152275656G>A	uc001ezu.1	-	2	11742	c.11706C>T	c.(11704-11706)ccC>ccT	p.P3902P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3902	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P3902L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAGGATCCGGGGTGTCTGG	0.517000									Ichthyosis				5	95					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32835817	32835817	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr13:32835817G>A	uc001utx.3	+	51	7977	c.7481G>A	c.(7480-7482)tGt>tAt	p.C2494Y	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Missense_Mutation_p.C19Y|FRY_uc010tdx.2_5'Flank	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.C2494S(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGGATAAGTGTGATATGCAG	0.498000													28	40					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283609	33283609	+	Missense_Mutation	SNP	C	C	T	rs147840428	by1000genomes	TCGA-EM-A2OV-01A-11D-A202-08	TCGA-EM-A2OV-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dfe70fd-2650-49c0-b6eb-67df585d063b	f1f40ef8-e5bc-440d-915f-048bb283a01c	g.chr6:33283609C>T	uc003oeb.3	-	1	1237	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.R362H|ZBTB22_uc021ywm.1_Missense_Mutation_p.R362H	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						ACTCAGGGTACGGACATCACT	0.577000													4	126					0	0	1	0	0