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
LRP1	4035	broad.mit.edu	37	12	57589486	57589486	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr12:57589486G>A	ENST00000243077.3	+	53	8949	c.8483G>A	c.(8482-8484)cGc>cAc	p.R2828H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2828	LDL-receptor class A 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCCAGAACCGCCAGTGCATC	0.617000													4	38					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16893359	16893359	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr10:16893359C>A	ENST00000377833.4	-	60	9603	c.9538G>T	c.(9538-9540)Gac>Tac	p.D3180Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3180	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAATTCTTGTCATACATTCCA	0.408000													8	82					0.000274275	0.000302406	1	1	0
NMBR	4829	broad.mit.edu	37	6	142409682	142409682	+	Silent	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr6:142409682C>T	ENST00000258042.1	-	1	254	c.114G>A	c.(112-114)acG>acA	p.T38T	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	38					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TCACCAACTCCGTGGTGGTCC	0.597000													3	28					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125088516	125088516	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr8:125088516C>G	ENST00000522917.1	+	32	4376	c.4170C>G	c.(4168-4170)atC>atG	p.I1390M	FER1L6_ENST00000399018.1_Missense_Mutation_p.I1390M|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1390	C2 5.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGACAGAAATCAAAGACCGGG	0.423000													4	174					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7963570	7963570	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr19:7963570C>G	ENST00000306708.6	+	3	264	c.163C>G	c.(163-165)Cta>Gta	p.L55V		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	55						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GATCATCTGTCTACCCAATCA	0.542000													4	124					0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186508014	186508014	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr3:186508014G>C	ENST00000392481.2	-	10	1194	c.913C>G	c.(913-915)Cag>Gag	p.Q305E	RFC4_ENST00000433496.1_Missense_Mutation_p.Q278E|RFC4_ENST00000296273.2_Missense_Mutation_p.Q305E	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	305					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.Q305_N308del(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTGACGAGCTGAGTTGCTGCA	0.343000													5	65					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183658121	183658121	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr4:183658121G>A	ENST00000511685.1	+	17	3251	c.3128G>A	c.(3127-3129)aGa>aAa	p.R1043K	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1043K					teneurin transmembrane protein 3																		GTAGTAGGAAGACTCTTCCAA	0.383000													4	78					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.470A>G	c.(469-471)cAt>cGt	p.H157R	AGAP10_ENST00000452145.2_Splice_Site_p.H132R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228R					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													3	28					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92973291	92973291	+	Silent	SNP	C	C	G			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr15:92973291C>G	ENST00000268164.3	+	2	348	c.111C>G	c.(109-111)ggC>ggG	p.G37G	ST8SIA2_ENST00000539113.1_Intron	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	37					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			ATTCGGGAGGCAGAGGTACAA	0.403000													4	61					0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11115109	11115109	+	Silent	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr1:11115109C>T	ENST00000376957.2	-	7	878	c.798G>A	c.(796-798)ctG>ctA	p.L266L		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	266					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GCTGCTGTGTCAGCGGCTGCA	0.607000													6	85					0	0	1	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													3	9					0	0	1	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													5	26					0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52088254	52088254	+	Silent	SNP	G	G	A			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr3:52088254G>A	ENST00000495880.1	-	2	837	c.654C>T	c.(652-654)gaC>gaT	p.D218D	DUSP7_ENST00000296483.6_Silent_p.D167D			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	218	Ser-rich.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGACTCGCCGTCGGAGCAGT	0.672000													4	44					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5423463	5423463	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr18:5423463C>A	ENST00000341928.2	-	11	1593	c.1253G>T	c.(1252-1254)aGa>aTa	p.R418I	EPB41L3_ENST00000540638.2_Missense_Mutation_p.R418I|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R418I|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R418I|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R418I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	418	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CGCACTGGCTCTTCTCGTTTG	0.478000													4	59					0.00909568	0.00931224	1	1	0
ZNF280B	140883	broad.mit.edu	37	22	22843566	22843566	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr22:22843566G>A	ENST00000360412.2	-	4	933	c.158C>T	c.(157-159)tCa>tTa	p.S53L	ZNF280B_ENST00000406426.1_Missense_Mutation_p.S53L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GACTGGTTTTGAATTTGAAGT	0.403000													6	117					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7859577	7859577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr5:7859577G>A	ENST00000264669.5	-	7	2096	c.1960C>T	c.(1960-1962)Caa>Taa	p.Q654*	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	654					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACAGTGTTTTGAGAAAACAGT	0.323000													3	49					0	0	1	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	G	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr15:45848224G>T	ENST00000409454.1	+	0	1219																											TGCAGATTTTGTTTAGCTTTT	0.318000													7	14					0.00621372	0.00651682	1	1	0
ZNF773	374928	broad.mit.edu	37	19	58016043	58016043	+	Nonstop_Mutation	SNP	G	G	C			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr19:58016043G>C	ENST00000601674.1	+	3	412	c.179G>C	c.(178-180)tGa>tCa	p.*60S	ZNF773_ENST00000282292.4_Missense_Mutation_p.E18Q|ZNF773_ENST00000593916.1_Missense_Mutation_p.E17Q|ZNF773_ENST00000598770.1_Missense_Mutation_p.E17Q|ZNF773_ENST00000599847.1_Missense_Mutation_p.E18Q																							TGTGACCTTTGAGGACGTGGC	0.507000													4	132					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99969182	99969182	+	Silent	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr10:99969182C>T	ENST00000298999.3	+	5	1614	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.F437F|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287			R3H domain and coiled-coil containing 1-like																		CTGAAGATTTCAGCAACCCTT	0.398000													4	68					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62414740	62414740	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr11:62414740C>T	ENST00000330574.2	-	2	2864	c.2812G>A	c.(2812-2814)Gag>Aag	p.E938K		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	938					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGACGCACCTCGAAAGGTGCC	0.572000													5	139					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28908175	28908175	+	Silent	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr13:28908175C>T	ENST00000282397.4	-	18	2831	c.2580G>A	c.(2578-2580)gtG>gtA	p.V860V	FLT1_ENST00000540678.1_Silent_p.V78V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	860	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.V860V(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCAGCATTTTCACAGCCACAG	0.423000													8	116					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947154	57947154	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr11:57947154C>G	ENST00000335397.3	+	3	554	c.238C>G	c.(238-240)Cag>Gag	p.Q80E		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CACTGTCCCCCAGATGCTGGC	0.502000													4	112					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196867115	196867115	+	Silent	SNP	G	G	A			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr3:196867115G>A	ENST00000346964.2	-	9	897	c.708C>T	c.(706-708)ttC>ttT	p.F236F	DLG1_ENST00000448528.2_Silent_p.F236F|DLG1_ENST00000392382.2_Silent_p.F203F|DLG1_ENST00000357674.4_Silent_p.F203F|DLG1_ENST00000443183.1_Silent_p.F120F|DLG1_ENST00000452595.1_Silent_p.F120F|DLG1_ENST00000314062.3_Silent_p.F185F|DLG1_ENST00000419354.1_Silent_p.F236F|DLG1_ENST00000450955.1_Silent_p.F203F|DLG1_ENST00000422288.1_Silent_p.F185F	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	236	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTGCAATGCTGAAACCAAGCC	0.418000													5	78					0	0	1	0	0
SNHG1	23642	broad.mit.edu	37	11	62620850	62620850	+	RNA	SNP	C	C	G			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr11:62620850C>G	ENST00000364799.1	-	0	17					NR_002560.1																						GGGCGGTATTCAACTCATCAC	0.448000													6	69					0	0	1	0	0
CREB3	10488	broad.mit.edu	37	9	35735306	35735306	+	Silent	SNP	C	C	G			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr9:35735306C>G	ENST00000353704.2	+	6	984	c.546C>G	c.(544-546)gtC>gtG	p.V182V	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	206					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CCCCCAGGGTCTTGAAATACA	0.448000													16	180					0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216766	26216766	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr6:26216766C>T	ENST00000244601.3	-	1	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	36					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GAGTAGCTCTCCTTACGACTG	0.517000													5	142					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889737	51889737	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr6:51889737C>T	ENST00000371117.3	-	32	5146	c.4871G>A	c.(4870-4872)cGg>cAg	p.R1624Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R1624Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1624	IPT/TIG 11.		R -> W (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACAATGCACCGGATGAGCTC	0.507000													5	98					0	0	1	0	0
IQCD	115811	broad.mit.edu	37	12	113645935	113645935	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr12:113645935G>C	ENST00000546692.1	-	2	410	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	IQCD_ENST00000416617.2_Missense_Mutation_p.Q13E|IQCD_ENST00000299732.2_Missense_Mutation_p.Q13E			Q96DY2	IQCD_HUMAN	IQ motif containing D	13										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GCAGGGGCCTGATACAAAGGG	0.517000													3	54					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121692598	121692598	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr10:121692598G>A	ENST00000369075.3	+	17	2912	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	SEC23IP_ENST00000543134.1_Missense_Mutation_p.R736Q|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	947	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	p.R947Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGAGGCCGCCGAATTGACTAC	0.368000													4	101					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													3	18					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58325002	58325002	+	Missense_Mutation	SNP	C	C	A	rs145966369	byFrequency	TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr16:58325002C>A	ENST00000219301.4	-	4	518	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Missense_Mutation_p.D42Y	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	42	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTTGGGGTCAGGACCGTAG	0.627000													4	27					0.000602214	0.00064738	1	1	0
ZNF263	10127	broad.mit.edu	37	16	3339455	3339455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr16:3339455C>T	ENST00000219069.5	+	6	1825	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	ZNF263_ENST00000574253.1_Silent_p.L150L|ZNF263_ENST00000538765.1_5'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	317					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q317*(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CATCCACCCTCAGGTGCTGCT	0.562000													11	147					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76621425	76621425	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr5:76621425G>C	ENST00000264917.5	+	3	506	c.461G>C	c.(460-462)aGa>aCa	p.R154T	PDE8B_ENST00000340978.3_Missense_Mutation_p.R154T|PDE8B_ENST00000342343.4_Missense_Mutation_p.R134T|PDE8B_ENST00000346042.3_Missense_Mutation_p.R154T|PDE8B_ENST00000333194.4_Missense_Mutation_p.R154T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	154					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GCCTGCGACAGAGCTGGTTAT	0.408000													5	79					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6238036	6238036	+	Silent	SNP	G	G	A	rs149660459		TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr18:6238036G>A	ENST00000400104.3	-	10	911	c.711C>T	c.(709-711)tgC>tgT	p.C237C	L3MBTL4_ENST00000535782.1_Silent_p.C50C|L3MBTL4_ENST00000284898.6_Silent_p.C237C|L3MBTL4_ENST00000317931.7_Silent_p.C237C|L3MBTL4_ENST00000400105.2_Silent_p.C237C			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	237					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TATTAACATCGCACCTGCAAA	0.438000													5	60					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449379	91449379	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr12:91449379C>T	ENST00000266719.3	-	2	927	c.680G>A	c.(679-681)gGa>gAa	p.G227E		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	227					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTCTGGTATTCCTTCAATGGA	0.388000													7	108					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98742417	98742417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr10:98742417G>T	ENST00000286067.2	+	1	1377	c.1270G>T	c.(1270-1272)Gag>Tag	p.E424*		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	424										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGCTGAGGTTGAGTCTGGAGA	0.512000													6	170					0.0293803	0.0293803	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95550535	95550535	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr8:95550535G>C	ENST00000297591.5	-	3	294	c.219C>G	c.(217-219)ttC>ttG	p.F73L	KIAA1429_ENST00000437199.1_Missense_Mutation_p.F73L|KIAA1429_ENST00000421249.2_Missense_Mutation_p.F73L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	73					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTACATTGTTGAAGAATAAGT	0.368000													4	103					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32354703	32354703	+	Silent	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr20:32354703C>T	ENST00000375200.1	+	9	1634	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	ZNF341_ENST00000342427.2_Silent_p.S416S	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGGCCTTGTCCACAGCTGGTG	0.622000													5	139					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223991955	223991955	+	Silent	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr1:223991955C>T	ENST00000391878.2	-	7	951	c.183G>A	c.(181-183)gaG>gaA	p.E61E	TP53BP2_ENST00000343537.7_Silent_p.E190E	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	184					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTTCCTGATTCTCAGCTATTT	0.398000													9	126					0	0	1	0	0
SDHB	6390	broad.mit.edu	37	1	17349184	17349184	+	Silent	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr1:17349184C>T	ENST00000375499.3	-	7	834	c.684G>A	c.(682-684)gaG>gaA	p.E228E		NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	228					respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CCAGGCGCTCCTCTGTGAAGT	0.567000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				4	52					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565542	11565542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr19:11565542C>T	ENST00000359227.3	-	7	1327	c.903G>A	c.(901-903)tgG>tgA	p.W301*	ELAVL3_ENST00000438662.2_Nonsense_Mutation_p.W294*	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	301	RRM 3.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGAACAGCTGCCACAGCACGC	0.642000													5	64					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17083935	17083936	+	RNA	INS	-	-	GAGA			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr1:17083935_17083936insGAGA	ENST00000455405.2	-	0	700																											CAGCAATGACTAGCCTGCTTCA	0.599													2	4	---	---	---	---					
MTG1	92170	broad.mit.edu	37	10	135216208	135216208	+	Frame_Shift_Del	DEL	A	A	-			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr10:135216208delA	ENST00000468317.2	+	10	953	c.698delA	c.(697-699)gacfs	p.D233fs	MTG1_ENST00000317502.6_Frame_Shift_Del_p.D228fs|MTG1_ENST00000477902.2_Frame_Shift_Del_p.D187fs																							ACGGTGCTGGACCACCTGGTC	0.582													2	4	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93761192	93761193	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr14:93761192_93761193insT	ENST00000334746.5	-	3	480_481	c.173_174insA	c.(172-174)aagfs	p.K58fs	BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	58								p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CAGAGGTTCTCTTTTTTTTGTC	0.441													8	163	---	---	---	---					
MIR7162	102466227	broad.mit.edu	37	15	62538522	62538523	+	RNA	INS	-	-	GA	rs3055695		TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr15:62538522_62538523insGA	ENST00000570077.1	-	0	693_694																											GGGGGCTCCGGGTAGGGGTTCA	0.609													2	4	---	---	---	---					
IGHV1OR16-2	28314	broad.mit.edu	37	16	32989896	32989897	+	RNA	DEL	TA	TA	-			TCGA-4Z-AA7N-01A-11D-A391-08	TCGA-4Z-AA7N-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15111ff7-71fb-4710-a5d5-207a9b2a4f11	55fc4c20-d1b1-46dd-a328-477ba589befc	g.chr16:32989896_32989897delTA	ENST00000567619.1	-	0	499																											TCCACTCCTGTATTCTCTCCAC	0.510													2	4	---	---	---	---					
