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
XPO1	7514	broad.mit.edu	37	2	61709536	61709536	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr2:61709536G>A	uc010ypn.2	-	23	3080	c.2951C>T	c.(2950-2952)tCg>tTg	p.S984L	XPO1_uc010fcl.3_Missense_Mutation_p.S980L|XPO1_uc002sbj.3_Missense_Mutation_p.S984L|XPO1_uc002sbk.3_Missense_Mutation_p.S545L|XPO1_uc002sbh.3_Missense_Mutation_p.S631L	NM_003400	NP_003391	O14980	XPO1_HUMAN	Homo sapiens exportin 1 (CRM1 homolog, yeast) (XPO1), mRNA.	984					intracellular protein transport|mRNA metabolic process|mRNA transport|mitotic prometaphase|viral genome transport in host cell|viral infectious cycle	Cajal body|annulate lamellae|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	RNA binding|protein binding|protein transporter activity	p.S984P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AGGGAAGGCCGACTTAAGGAG	0.398000			Mis		CLL									90			8		0	0	0.008291	0	0
ANAPC1	64682	broad.mit.edu	37	2	112625621	112625621	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr2:112625621G>C	uc002thi.3	-	6	911	c.664C>G	c.(664-666)Cca>Gca	p.P222A		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	222					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.P222A(6)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CAAACAAGTGGAGTTATTTCA	0.328000														70			3		0	0	0.004672	0	0
KLHL3	26249	broad.mit.edu	37	5	136963990	136963990	+	Silent	SNP	G	A	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr5:136963990G>A	uc010jek.3	-	12	2031	c.1587C>T	c.(1585-1587)aaC>aaT	p.N529N	KLHL3_uc011cyc.2_Silent_p.N264N|KLHL3_uc003lbr.4_Silent_p.N447N|KLHL3_uc011cyd.2_Non-coding_Transcript	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	529						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CATTACCTGCGTTGCGCCGGC	0.537000														133			75		0	0	0.014410	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19685347	19685347	+	Silent	SNP	T	G	G	rs111276490		TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr21:19685347T>G	uc002ykw.3	-	17	2111	c.2080A>C	c.(2080-2082)Aga>Cga	p.R694R		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	694	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTCTGGATTCTGAACCGCACT	0.443000														6			90		0	0	0.014410	0	0
IRF5	3663	broad.mit.edu	37	7	128587532	128587532	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr7:128587532C>T	uc003voh.3	+	5	803	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	IRF5_uc010llr.1_Silent_p.C216C|IRF5_uc010lls.1_Silent_p.C216C|IRF5_uc003vog.3_Missense_Mutation_p.P244S|IRF5_uc010llt.3_Intron|IRF5_uc003voi.3_Missense_Mutation_p.P228S|IRF5_uc010llu.1_Silent_p.C216C|IRF5_uc003vok.2_3'UTR|IRF5_uc003voj.4_Missense_Mutation_p.P228S|IRF5_uc010llv.1_3'UTR|IRF5_uc010llw.1_Silent_p.C216C	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	228					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGCCAGCCTGCCCCCTGCAGG	0.682000														25			18		0	0	0.012319	0	0
UBR2	23304	broad.mit.edu	37	6	42657391	42657391	+	Silent	SNP	G	A	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr6:42657391G>A	uc011dur.2	+	45	5407	c.5109G>A	c.(5107-5109)gaG>gaA	p.E1703E	UBR2_uc011dus.2_Silent_p.E1348E|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_Silent_p.E291E|UBR2_uc011duu.2_Silent_p.E95E	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1703					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.G1702V(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACTATGGGGAGACCGACCAGG	0.517000														36			314		0	0	0.014410	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967129	23967129	+	Silent	SNP	C	T	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr20:23967129C>T	uc002wts.3	-	1	253	c.120G>A	c.(118-120)ctG>ctA	p.L40L	GGTLC1_uc002wtu.3_Silent_p.L40L|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	40							gamma-glutamyltransferase activity	p.H39L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGACCACAGACAGGTGAGCAG	0.647000														38			52		0	0	0.014410	0	0
BAAT	570	broad.mit.edu	37	9	104125282	104125282	+	Missense_Mutation	SNP	C	T	T	rs141722672	by1000genomes	TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr9:104125282C>T	uc010mtd.3	-	3	794	c.685G>A	c.(685-687)Gtt>Att	p.V229I	BAAT_uc004bbd.4_Missense_Mutation_p.V229I	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	229					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	ACTACCCCAACGCCTGAGCCA	0.388000														37			23		0	0	0.012319	0	0
ZFHX3	463	broad.mit.edu	37	16	72984648	72984648	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr16:72984648A>C	uc002fck.3	-	2	3609	c.2936T>G	c.(2935-2937)gTg>gGg	p.V979G	ZFHX3_uc002fcl.3_Missense_Mutation_p.V65G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	979					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTCCCCCATCACCGCCTTCCA	0.592000														91			4		0	0	0.003080	0	0
ZNF761	388561	broad.mit.edu	37	19	53958709	53958709	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr19:53958709T>A	uc010eqp.3	+	6	1406	c.948T>A	c.(946-948)caT>caA	p.H316Q	ZNF761_uc010ydy.2_Missense_Mutation_p.H262Q|ZNF761_uc002qbt.2_Missense_Mutation_p.H262Q	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TTGAAAGACATAGGATAATTC	0.383000														15			86		0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141643776	141643776	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr2:141643776G>C	uc002tvj.1	-	23	4867	c.3895C>G	c.(3895-3897)Caa>Gaa	p.Q1299E	LRP1B_uc010fnl.1_Missense_Mutation_p.Q481E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1299					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q1299K(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTAAACTTTGATTGAAGTGA	0.328000										TSP Lung(27;0.18)				13			73		0	0	0.014410	0	0
MATN4	8785	broad.mit.edu	37	20	43927153	43927153	+	Silent	SNP	G	A	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr20:43927153G>A	uc002xnn.2	-	6	1270	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	MATN4_uc002xnp.2_Silent_p.F279F|MATN4_uc002xno.2_Silent_p.F320F|MATN4_uc010zwr.1_Silent_p.F309F|MATN4_uc002xnr.1_Silent_p.F361F	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	402	EGF-like 4.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TCACTAGCTCGAAGTTTTGTG	0.597000														198			6		0	0	0.001984	0	0
DRD1	1812	broad.mit.edu	37	5	174870046	174870046	+	Silent	SNP	G	A	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr5:174870046G>A	uc003mcz.3	-	1	1002	c.57C>T	c.(55-57)gaC>gaT	p.D19D	DRD1_uc021yia.1_Silent_p.D19D	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	19					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GAACAGAGAAGTCCCTCTCCA	0.572000														94			59		0	0	0.014410	0	0
TXNRD2	10587	broad.mit.edu	37	22	19870863	19870863	+	Silent	SNP	A	T	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr22:19870863A>T	uc021wlj.1	-	11	1104	c.1071T>A	c.(1069-1071)atT>atA	p.I357I	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Silent_p.I356I|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_5'Flank	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	357					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CCACGTCACCAATGGCGTAGA	0.652000														11			64		0	0	0.014410	0	0
MST1P9	11223	broad.mit.edu	37	1	17085865	17085865	+	Missense_Mutation	SNP	A	G	G	rs1057378	by1000genomes	TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr1:17085865A>G	uc010ock.2	-	7	956	c.956T>C	c.(955-957)cTc>cCc	p.L319P	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L319P(2)|p.L309P(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TGAGCCGTCGAGGTTCCAGCA	0.667000														38			3		0	0	0.001168	0	0
ZNF98	148198	broad.mit.edu	37	19	22605147	22605147	+	Splice_Site	SNP	A	C	C			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr19:22605147A>C	uc002nqt.2	-	1	1	c.-121_splice	c.e1-1			NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGAGACAAAGACCCCGCCACA	0.607000														4			5		0	0	0.010729	0	0
SORCS1	114815	broad.mit.edu	37	10	108427534	108427534	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr10:108427534T>C	uc001kyl.3	-	16	2398	c.2216A>G	c.(2215-2217)aAt>aGt	p.N739S	SORCS1_uc021pxw.1_Missense_Mutation_p.N739S|SORCS1_uc009xxs.3_Missense_Mutation_p.N739S|SORCS1_uc001kym.3_Missense_Mutation_p.N739S|SORCS1_uc001kyn.2_Missense_Mutation_p.N739S|SORCS1_uc001kyo.3_Missense_Mutation_p.N739S	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	739						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCACTGGCCATTGCTGTGTCG	0.458000														2			26		0	0	0.008361	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153591621	153591621	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr2:153591621C>T	uc002tyn.3	+	2	1300	c.568C>T	c.(568-570)Ctt>Ttt	p.L190F	ARL6IP6_uc002tym.3_Non-coding_Transcript|ARL6IP6_uc002tyo.2_Missense_Mutation_p.L82F	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN	Homo sapiens ADP-ribosylation-like factor 6 interacting protein 6 (ARL6IP6), transcript variant 1, mRNA.	190						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						TCCTACTCCTCTTTCACCTGC	0.378000														123			5		0	0	0.014758	0	0
AL117485	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	C	C			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr22:18844763T>C	uc002zoe.3	+	3		c.2017T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000														9			2		0	0	0.004672	0	0
FSIP2	401024	broad.mit.edu	37	2	186671400	186671400	+	Silent	SNP	T	C	C			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr2:186671400T>C	uc002upl.3	+	16	17634	c.17634T>C	c.(17632-17634)gaT>gaC	p.D5878D	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTTTAGAAGATGTTATTACTG	0.333000														2			58		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711928	140711928	+	Silent	SNP	G	A	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr5:140711928G>A	uc003lji.2	+	0	1677	c.1677G>A	c.(1675-1677)gcG>gcA	p.A559A	PCDHGC5_uc011dan.2_Silent_p.A559A	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	561	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCGCCCGAGATCC	0.647000														187			178		0	0	0.014410	0	0
AKAP10	11216	broad.mit.edu	37	17	19861611	19861611	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr17:19861611A>G	uc002gwo.3	-	3	730	c.593T>C	c.(592-594)tTt>tCt	p.F198S	AKAP10_uc002gwp.1_Missense_Mutation_p.F198S|AKAP10_uc010cqw.1_Missense_Mutation_p.F198S|AKAP10_uc010vze.1_Missense_Mutation_p.F119S	NM_007202	NP_009133	O43572	AKA10_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 10 (AKAP10), nuclear gene encoding mitochondrial protein, mRNA.	198	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ATCAGTTAAAAAAGACGCTGT	0.418000														44			41		0	0	0.006230	0	0
RANBP10	57610	broad.mit.edu	37	16	67840335	67840335	+	Silent	SNP	C	T	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr16:67840335C>T	uc002eud.3	-	0	221	c.105G>A	c.(103-105)ctG>ctA	p.L35L	RANBP10_uc010ceo.3_5'UTR|RANBP10_uc010vju.2_Silent_p.L35L|RANBP10_uc010vjv.2_5'UTR|RANBP10_uc010vjx.1_Silent_p.L35L|RANBP10_uc010vjy.1_5'UTR|TSNAXIP1_uc010cep.2_5'Flank|TSNAXIP1_uc010vjz.1_5'Flank|TSNAXIP1_uc002euf.4_5'Flank|TSNAXIP1_uc010vka.2_5'Flank|TSNAXIP1_uc010vkb.2_5'Flank|TSNAXIP1_uc002eug.4_5'Flank|TSNAXIP1_uc002euh.4_5'Flank|TSNAXIP1_uc002eui.4_5'Flank|TSNAXIP1_uc002euj.3_5'Flank	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	35	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGCGCCGGCTCAGCTCCTGCT	0.701000														11			5		0	0	0.001168	0	0
DOPEY1	23033	broad.mit.edu	37	6	83862077	83862077	+	Silent	SNP	A	G	G			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr6:83862077A>G	uc011dyy.2	+	29	6353	c.6093A>G	c.(6091-6093)ttA>ttG	p.L2031L	DOPEY1_uc003pjs.1_Silent_p.L2040L|DOPEY1_uc010kbl.1_Silent_p.L2031L|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2040					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CATTGACATTACTCTCTGAGG	0.294000														54			3		0	0	0.009096	0	0
OR52J3	119679	broad.mit.edu	37	11	5068288	5068288	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr11:5068288A>T	uc010qyv.2	+	0	533	c.533A>T	c.(532-534)cAt>cTt	p.H178L		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A177D(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAATAGCCCATTCCTACTGT	0.418000														5			86		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9065718	9065718	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr19:9065718G>T	uc002mkp.3	-	2	21932	c.21728C>A	c.(21727-21729)tCc>tAc	p.S7243Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7245	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGCTCAGGGAGGAAATTGA	0.468000														181			15		2.32078e-09	2.77485e-09	0.003163	1	0
IL10RA	3587	broad.mit.edu	37	11	117866403	117866403	+	Missense_Mutation	SNP	G	A	A	rs145975996		TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr11:117866403G>A	uc001prv.3	+	5	865	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	IL10RA_uc010rxl.2_Missense_Mutation_p.R243Q|IL10RA_uc010rxm.2_Missense_Mutation_p.R243Q|IL10RA_uc010rxn.2_Missense_Mutation_p.R114Q|IL10RA_uc001prw.3_Missense_Mutation_p.R114Q	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	263						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GTGCGGCGCCGAAAGAAGCTA	0.602000														17			19		0	0	0.006122	0	0
CCDC116	164592	broad.mit.edu	37	22	21989095	21989095	+	Nonsense_Mutation	SNP	C	G	G			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr22:21989095C>G	uc002zve.3	+	3	836	c.743C>G	c.(742-744)tCa>tGa	p.S248*	CCDC116_uc011aih.1_Nonsense_Mutation_p.S248*	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	248										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CTGCTGGGCTCAAGCTCTGGC	0.577000														147			7		0	0	0.001984	0	0
C17orf57	124989	broad.mit.edu	37	17	45490253	45490253	+	Missense_Mutation	SNP	A	G	G	rs137885108		TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr17:45490253A>G	uc002iln.3	+	21	2824	c.2393A>G	c.(2392-2394)aAt>aGt	p.N798S	C17orf57_uc002ilm.3_Missense_Mutation_p.N702S	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	798	EF-hand 5.						calcium ion binding	p.F797F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						GAGGACTTCAATGAAGCCCTT	0.363000														151			41		0	0	0.014410	0	0
USP45	85015	broad.mit.edu	37	6	99930682	99930682	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr6:99930682C>A	uc003ppx.2	-	7	1325	c.792G>T	c.(790-792)gaG>gaT	p.E264D	USP45_uc003ppw.2_Intron|USP45_uc010kcq.2_Missense_Mutation_p.E264D|USP45_uc003pqa.3_Missense_Mutation_p.E264D	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	264					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CTTTTTCAGTCTCCTTCATGC	0.383000														5			70		5.98616e-33	7.31642e-33	0.014410	1	0
PFKL	5211	broad.mit.edu	37	21	45732008	45732008	+	Silent	SNP	C	T	T	rs140593126	byFrequency	TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr21:45732008C>T	uc002zek.3	+	6	800	c.399C>T	c.(397-399)agC>agT	p.S133S	PFKL_uc002zel.3_Silent_p.S86S|PFKL_uc011afd.1_Silent_p.S133S			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	86					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TCATTGGCAGCGCTCGCTGCA	0.652000														0			9		0	0	0.006214	0	0
KL	9365	broad.mit.edu	37	13	33591068	33591068	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr13:33591068G>C	uc001uus.3	+	0	498	c.490G>C	c.(490-492)Gtc>Ctc	p.V164L	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	164	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CAGCGCGGGCGTCCCCAACCG	0.711000														7			5		0	0	0.004482	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														8			3		0	0	0.004672	0	0
HAND2	9464	broad.mit.edu	37	4	174449979	174449979	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr4:174449979C>T	uc003itg.1	-	1	448	c.358G>A	c.(358-360)Gct>Act	p.A120T	NBLA00301_uc003itj.3_5'Flank|NBLA00301_uc010irf.3_5'Flank|NBLA00301_uc010irg.3_5'Flank|NBLA00301_uc011ckd.2_5'Flank|NBLA00301_uc010irh.3_5'Flank|NBLA00301_uc010iri.3_5'Flank|NBLA00301_uc010irj.3_5'Flank|NBLA00301_uc010irk.3_5'Flank|NBLA00301_uc003itl.4_5'Flank|NBLA00301_uc010irl.3_5'Flank|NBLA00301_uc010irn.3_5'Flank|NBLA00301_uc010irm.3_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003ith.1_Silent_p.L154L			P61296	HAND2_HUMAN	Homo sapiens heart and neural crest derivatives expressed 2 (HAND2), mRNA.	0	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCTTGGCCAGCAGGTCCATGA	0.577000														73			4		0	0	0.009096	0	0
CCR5	1234	broad.mit.edu	37	3	46415326	46415326	+	Silent	SNP	C	T	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr3:46415326C>T	uc003cpo.4	+	2	1055	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CCR5_uc010hjd.3_Silent_p.F311F|CCR5_uc021wxb.1_Silent_p.F311F	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	311					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TCTTAGTCTTCTTCCAAAAGC	0.502000														255			8		0	0	0.003080	0	0
ZNF761	388561	broad.mit.edu	37	19	53958711	53958711	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr19:53958711G>A	uc010eqp.3	+	6	1408	c.950G>A	c.(949-951)aGg>aAg	p.R317K	ZNF761_uc010ydy.2_Missense_Mutation_p.R263K|ZNF761_uc002qbt.2_Missense_Mutation_p.R263K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	317				R -> S (in Ref. 2; BAD18456).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C317S(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAAAGACATAGGATAATTCAT	0.383000														15			88		0	0	0.014410	0	0
ACTL6A	86	broad.mit.edu	37	3	179304341	179304341	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr3:179304341G>A	uc003fjw.3	+	12	1303	c.1130G>A	c.(1129-1131)cGg>cAg	p.R377Q	ACTL6A_uc003fjx.3_Missense_Mutation_p.R335Q|ACTL6A_uc003fjy.3_Missense_Mutation_p.R335Q	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	377					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding	p.R377W(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CAGAGTATGCGGTTGAAATTG	0.348000														7			41		0	0	0.008740	0	0
EFHA1	221154	broad.mit.edu	37	13	22088516	22088516	+	Silent	SNP	C	T	T			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr13:22088516C>T	uc001uof.3	-	6	707	c.639G>A	c.(637-639)gtG>gtA	p.V213V	EFHA1_uc010tct.2_Silent_p.V3V	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	213							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		CATTAGTTTTCACTGTCATCA	0.318000														69			7		0	0	0.004482	0	0
C8orf34	116328	broad.mit.edu	37	8	69380981	69380981	+	Missense_Mutation	SNP	G	A	A	rs142064557	byFrequency	TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr8:69380981G>A	uc010lyz.3	+	3	953	c.662G>A	c.(661-663)cGt>cAt	p.R221H	C8orf34_uc010lyy.2_Missense_Mutation_p.R221H|C8orf34_uc003xyb.3_Missense_Mutation_p.R110H	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	135					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCACAAAGCCGTGATTTTGAT	0.378000														8			80		0	0	0.014410	0	0
ACADL	33	broad.mit.edu	37	2	211057526	211057526	+	Splice_Site	DEL	A	-	-			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr2:211057526delA	uc002vdz.4	-	10	1427	c.1199_splice	c.e10+1	p.K400_splice		NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	400					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		AACTATACTTACTTTGCAATT	0.383													---	4	---	---	63	---					
SETD2	29072	broad.mit.edu	37	3	47162849	47162850	+	Frame_Shift_Del	DEL	TT	-	-	rs114327122	by1000genomes	TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr3:47162849_47162850delTT	uc003cqv.3	-	2	3329_3330	c.3243_3244delAA	c.(3241-3246)caaagtfs	p.Q1081fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.Q1092fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1092					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.S1093R(1)|p.S590R(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGTCTATAACTTTGACTGCTCC	0.416			"""N, F, S, Mis"""		clear cell renal carcinoma								---	20	---	---	121	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-BQ-5891-01A-11D-1589-08	TCGA-BQ-5891-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d4ff42-0161-4f83-bd6f-13eb19d4eabf	28824279-2be9-45db-867a-b165d8191d0c	g.chr12:46320707_46320708delTC	uc001rox.3	-	10	3063_3064	c.2776_2777delGA	c.(2776-2778)gaafs	p.E926fs	SCAF11_uc001row.3_Frame_Shift_Del_p.E611fs|SCAF11_uc001roy.1_Frame_Shift_Del_p.E1000fs	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	926	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													---	502	---	---	11	---					
