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
XYLT1	64131	broad.mit.edu	37	16	17202725	17202725	+	Nonsense_Mutation	SNP	C	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr16:17202725C>A	uc002dfa.3	-	11	2792	c.2707G>T	c.(2707-2709)Gag>Tag	p.E903*		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	903					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.E903Q(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCCATCCCTCCAGCGCTGTG	0.667000														103			7		0.00307968	0.0031389	0.003080	1	0
PCSK5	5125	broad.mit.edu	37	9	78953204	78953204	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr9:78953204T>C	uc004akc.2	+	33	5264	c.4726T>C	c.(4726-4728)Tgc>Cgc	p.C1576R		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	747					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGCAAGGGGTGCCAGGGCCC	0.522000														20			10		0	0	0.010729	0	0
GSTA1	2938	broad.mit.edu	37	6	52658943	52658943	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr6:52658943A>G	uc003paz.3	-	4	506	c.394T>C	c.(394-396)Tac>Cac	p.Y132H	GSTA1_uc021zan.1_Missense_Mutation_p.Y132H	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	132	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GCAGGGAAGTAGCGATTTTTT	0.433000														191			98		0	0	0.014410	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2544	2544	+	RNA	SNP	C	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chrGL000237.1:2544C>T	uc011mgu.1	-	0		c.143G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		actccagccgcgctgccatct	0.632000														17			6		0	0	0.001168	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52765463	52765463	+	Silent	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr4:52765463T>C	uc011bzo.2	+	7	673	c.666T>C	c.(664-666)aaT>aaC	p.N222N	DCUN1D4_uc003gze.3_Silent_p.N178N|DCUN1D4_uc003gzf.3_Silent_p.N178N|DCUN1D4_uc011bzn.2_Silent_p.N118N|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	178	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AACTCAGAAATACTTTGGATT	0.299000														15			8		0	0	0.006214	0	0
abParts	0	broad.mit.edu	37	14	106774188	106774188	+	RNA	SNP	G	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr14:106774188G>T	uc021ser.1	-	683		c.18622C>A								Parts of antibodies, mostly variable regions.																		CATACGTTAGGTTCCCAGTGT	0.512000														28			9		3.09899e-07	3.35196e-07	0.004482	1	0
CUBN	8029	broad.mit.edu	37	10	17157562	17157562	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr10:17157562A>G	uc001ioo.3	-	6	680	c.628T>C	c.(628-630)Tgt>Cgt	p.C210R		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	210	EGF-like 2; calcium-binding (Potential).				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	p.Q209*(1)		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)	TTGGATGCACACTGGGGTCCG	0.542000														58			35		0	0	0.015359	0	0
MFHAS1	9258	broad.mit.edu	37	8	8654999	8654999	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr8:8654999C>G	uc003wsj.1	-	1	3564	c.3001G>C	c.(3001-3003)Gag>Cag	p.E1001Q		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	1001		Breakpoint for translocation to form chimeric MASL1.								endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CTCAGCAACTCCCCTGTAGGA	0.552000														48			3		0	0	0.004672	0	0
ACLY	47	broad.mit.edu	37	17	40025023	40025023	+	Silent	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr17:40025023T>C	uc002hyg.3	-	27	3313	c.3150A>G	c.(3148-3150)gaA>gaG	p.E1050E	ACLY_uc002hyh.3_Silent_p.E1040E|ACLY_uc002hyi.3_Silent_p.E1104E|ACLY_uc010wfx.2_Silent_p.E1094E|ACLY_uc010wfy.2_Silent_p.E779E	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	1050					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGTCAATATATTCATCAGCTT	0.438000														115			36		0	0	0.005524	0	0
NEB	4703	broad.mit.edu	37	2	152482148	152482148	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:152482148A>G	uc021vrb.1	-	65	9652	c.9623T>C	c.(9622-9624)tTa>tCa	p.L3208S	NEB_uc002txu.3_Missense_Mutation_p.L3451S|NEB_uc021vrc.1_Missense_Mutation_p.L3451S|NEB_uc010fnx.3_Missense_Mutation_p.L3196S|NEB_uc021vrd.1_Missense_Mutation_p.L3208S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3208					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTGTGTATAAGCGCTGTGA	0.358000														15			8		0	0	0.003080	0	0
HMGB2	3148	broad.mit.edu	37	4	174254247	174254247	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr4:174254247T>C	uc011ckc.1	-	1	389	c.269A>G	c.(268-270)aAg>aGg	p.K90R	HMGB2_uc003ita.3_Missense_Mutation_p.K90R|HMGB2_uc003itb.2_Missense_Mutation_p.K90R	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	90					DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.K90R(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ATTGGGGTCCTTTTTCTTCCC	0.398000														149			91		0	0	0.014410	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272475	139272475	+	Silent	SNP	G	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr9:139272475G>T	uc004chh.3	-	20	3813	c.3804C>A	c.(3802-3804)gcC>gcA	p.A1268A		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	1268					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCAGGTCCAGGGCCCCCTTCT	0.731000														16			8		5.18039e-06	5.54668e-06	0.003080	1	0
OS9	10956	broad.mit.edu	37	12	58087952	58087952	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr12:58087952C>T	uc001spj.3	+	0	215	c.8C>T	c.(7-9)gCg>gTg	p.A3V	OS9_uc010srx.2_Missense_Mutation_p.A3V|OS9_uc001spk.3_Missense_Mutation_p.A3V|OS9_uc001spl.3_Missense_Mutation_p.A3V|OS9_uc001spm.3_Missense_Mutation_p.A3V|OS9_uc001spn.3_Missense_Mutation_p.A3V|OS9_uc010sry.2_Missense_Mutation_p.A3V|OS9_uc010srz.2_Missense_Mutation_p.A3V	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	3					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AAGATGGCGGCGGAAACGCTG	0.582000														157			59		0	0	0.014410	0	0
MYO1E	4643	broad.mit.edu	37	15	59515313	59515313	+	Silent	SNP	C	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr15:59515313C>G	uc002aga.3	-	8	1227	c.855G>C	c.(853-855)ctG>ctC	p.L285L		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	285	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGATGTTTCCCAGGTGGAGAA	0.507000														44			8		0	0	0.003080	0	0
GFER	2671	broad.mit.edu	37	16	2035967	2035967	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr16:2035967T>A	uc002cob.3	+	2	626	c.556T>A	c.(556-558)Ttc>Atc	p.F186I	TCRBV20S1_uc021tak.1_Intron|GFER_uc002coc.3_Missense_Mutation_p.F111I	NM_005262	NP_005253	P55789	ALR_HUMAN	Homo sapiens growth factor, augmenter of liver regeneration (GFER), mRNA.	186	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	p.F186F(1)		endometrium(1)|large_intestine(1)|lung(3)	5						CAAGCCTGACTTCGACTGCTC	0.612000														62			92		0	0	0.014410	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782340	62782340	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr11:62782340T>C	uc009yon.3	-	1	212	c.91A>G	c.(91-93)Atg>Gtg	p.M31V	SLC22A8_uc009yom.3_Intron|SLC22A8_uc001nwo.3_Missense_Mutation_p.M31V|SLC22A8_uc010rmm.2_Intron|SLC22A8_uc001nwp.2_Missense_Mutation_p.M31V	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	31					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TGGTTGGCCATGTTGAGGATC	0.617000														151			71		0	0	0.014410	0	0
GTF2B	2959	broad.mit.edu	37	1	89325567	89325567	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:89325567T>C	uc001dmo.4	-	4	652	c.533A>G	c.(532-534)aAa>aGa	p.K178R		NM_001514	NP_001505	Q00403	TF2B_HUMAN	Homo sapiens general transcription factor IIB (GTF2B), mRNA.	178					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		AAACTTACCTTTAAATGTCCT	0.418000														50			42		0	0	0.008740	0	0
IBTK	25998	broad.mit.edu	37	6	82904254	82904254	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr6:82904254T>G	uc003pjl.1	-	22	3807	c.3280A>C	c.(3280-3282)Att>Ctt	p.I1094L	IBTK_uc011dyu.1_Missense_Mutation_p.I45L|IBTK_uc011dyv.1_Missense_Mutation_p.I1079L|IBTK_uc011dyw.1_Missense_Mutation_p.I893L|IBTK_uc010kbi.1_Missense_Mutation_p.I788L|IBTK_uc003pjm.2_Missense_Mutation_p.I1094L	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1094					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTACTGGGAATAGGCTGTGGA	0.368000														22			19		0	0	0.008871	0	0
BCOR	54880	broad.mit.edu	37	X	39932880	39932880	+	Silent	SNP	G	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chrX:39932880G>T	uc004den.4	-	3	2011	c.1719C>A	c.(1717-1719)gcC>gcA	p.A573A	BCOR_uc004dep.4_Silent_p.A573A|BCOR_uc004deo.4_Silent_p.A573A|BCOR_uc004dem.4_Silent_p.A573A|BCOR_uc004deq.4_Silent_p.A573A	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	573					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGCATTGGGGGCGGGTGATG	0.617000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							5			28		5.61819e-17	6.61698e-17	0.005443	1	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40698	40698	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chrGL000218.1:40698G>A	uc011mfn.2	-	2	321	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	LOC100233156_uc003jah.2_Missense_Mutation_p.R78C					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TCACAGCGGCGCCCGAAGGCC	0.672000														10			3		0	0	0.009096	0	0
CUL1	8454	broad.mit.edu	37	7	148495672	148495672	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr7:148495672T>C	uc010lpg.3	+	19	2565	c.2039T>C	c.(2038-2040)tTa>tCa	p.L680S	CUL1_uc003wey.3_Missense_Mutation_p.L680S|CUL1_uc003wez.3_Missense_Mutation_p.L570S|CUL1_uc003wfa.3_Missense_Mutation_p.L341S	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	680					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGTAAGAAATTAAGGGTTAAC	0.383000														31			46		0	0	0.009718	0	0
RUFY1	80230	broad.mit.edu	37	5	178987050	178987050	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:178987050A>G	uc003mka.1	+	1	335	c.335A>G	c.(334-336)gAg>gGg	p.E112G	RUFY1_uc003mkb.1_Missense_Mutation_p.E4G|RUFY1_uc003mkc.1_Missense_Mutation_p.E4G	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	112					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGATGGAGGAGCGTGCCAAC	0.597000										HNSCC(44;0.11)				11			13		0	0	0.004007	0	0
NFX1	4799	broad.mit.edu	37	9	33307212	33307212	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr9:33307212T>C	uc003zsr.3	+	4	1444	c.1291T>C	c.(1291-1293)Tgg>Cgg	p.W431R	NFX1_uc011lnw.2_Missense_Mutation_p.W431R|NFX1_uc003zso.3_Missense_Mutation_p.W431R|NFX1_uc003zsp.2_Missense_Mutation_p.W431R|NFX1_uc010mjr.2_Missense_Mutation_p.W431R|NFX1_uc003zsq.3_Missense_Mutation_p.W431R	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	431					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GAATCCTGAGTGGAGCAGAAA	0.413000														120			5		0	0	0.001168	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132430	11132430	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr19:11132430A>T	uc010dxp.3	+	19	3006	c.2646A>T	c.(2644-2646)gaA>gaT	p.E882D	SMARCA4_uc010dxo.3_Missense_Mutation_p.E882D|SMARCA4_uc002mqf.4_Missense_Mutation_p.E882D|SMARCA4_uc002mqg.1_Missense_Mutation_p.E882D|SMARCA4_uc010dxq.3_Missense_Mutation_p.E882D|SMARCA4_uc010dxr.3_Missense_Mutation_p.E882D|SMARCA4_uc002mqj.4_Missense_Mutation_p.E882D|SMARCA4_uc010dxs.3_Missense_Mutation_p.E882D|SMARCA4_uc010dxt.1_Missense_Mutation_p.E102D|SMARCA4_uc002mqh.4_Missense_Mutation_p.E5D|SMARCA4_uc002mqi.1_Missense_Mutation_p.E85D	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	882	Helicase ATP-binding.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGTGGACGAAGGTCACCGCA	0.632000			"""F, N, Mis"""		NSCLC									22			11		0	0	0.008291	0	0
PITPNM1	9600	broad.mit.edu	37	11	67263727	67263727	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr11:67263727T>C	uc001olx.3	-	13	2428	c.2239A>G	c.(2239-2241)Aag>Gag	p.K747E	PITPNM1_uc001olw.3_Missense_Mutation_p.K29E|PITPNM1_uc001oly.3_Missense_Mutation_p.K747E|PITPNM1_uc001olz.3_Missense_Mutation_p.K746E	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	747	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCCTGGAACTTCGGGGCCAGC	0.642000														32			29		0	0	0.009535	0	0
ALG9	79796	broad.mit.edu	37	11	111715419	111715419	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr11:111715419A>G	uc010rwn.2	-	7	884	c.785T>C	c.(784-786)aTt>aCt	p.I262T	ALG9_uc001ply.3_Missense_Mutation_p.I137T|ALG9_uc001plz.3_Missense_Mutation_p.I137T|ALG9_uc021qql.1_Missense_Mutation_p.I137T|ALG9_uc021qqm.1_Missense_Mutation_p.I137T|ALG9_uc010rwo.2_Missense_Mutation_p.I136T|ALG9_uc009yyh.1_Missense_Mutation_p.I203T	NM_001077692	NP_001071160	Q9H6U8	ALG9_HUMAN	Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) (ALG9), transcript variant 4, mRNA.	308					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AAATCCATTAATTAAATAGAA	0.393000														43			36		0	0	0.015359	0	0
ESD	2098	broad.mit.edu	37	13	47345616	47345616	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr13:47345616A>G	uc001vbn.3	-	9	967	c.784T>C	c.(784-786)Tac>Cac	p.Y262H		NM_001984	NP_001975	P10768	ESTD_HUMAN	Homo sapiens esterase D (ESD), mRNA.	262						cytoplasmic membrane-bounded vesicle	S-formylglutathione hydrolase activity|carboxylesterase activity	p.S261N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	ATGAAGTAGTAGCTATGATCA	0.328000														51			17		0	0	0.004007	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000														23			8		0	0	0.003080	0	0
GOLGB1	2804	broad.mit.edu	37	3	121433805	121433805	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr3:121433805G>A	uc010hrc.3	-	9	1433	c.1307C>T	c.(1306-1308)tCc>tTc	p.S436F	GOLGB1_uc003eei.4_Missense_Mutation_p.S431F|GOLGB1_uc003eej.4_Missense_Mutation_p.S397F|GOLGB1_uc021xcy.1_Missense_Mutation_p.S356F|GOLGB1_uc011bjm.1_Missense_Mutation_p.S317F|GOLGB1_uc010hrd.1_Missense_Mutation_p.S395F	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	431					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AATTTCTTTGGATTTTTGCTG	0.328000														29			30		0	0	0.008361	0	0
CCDC6	8030	broad.mit.edu	37	10	61666066	61666066	+	Silent	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr10:61666066T>C	uc001jks.4	-	0	349	c.117A>G	c.(115-117)ggA>ggG	p.G39G		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	39	Poly-Gly.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		cgccgccgcctcccccgccgc	0.726000			T	RET	NSCLC									31			9		0	0	0.004990	0	0
ICOS	29851	broad.mit.edu	37	2	204822592	204822592	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:204822592A>C	uc002vam.3	+	3	639	c.572A>C	c.(571-573)aAa>aCa	p.K191T	ICOS_uc010zip.1_Missense_Mutation_p.K191T|ICOS_uc010fua.3_Intron	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	Homo sapiens inducible T-cell co-stimulator (ICOS), mRNA.	191					T cell costimulation|immune response	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						ACAGCCAAAAAATCTAGACTC	0.388000														44			28		0	0	0.009535	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190130	233190130	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:233190130T>C	uc001hvl.2	-	24	4470	c.4235A>G	c.(4234-4236)aAc>aGc	p.N1412S	PCNXL2_uc001hvk.1_Missense_Mutation_p.N64S|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1412						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGAGCTGTAGTTGCCCCAACG	0.438000														21			17		0	0	0.004990	0	0
PPP6R1	22870	broad.mit.edu	37	19	55752903	55752903	+	Nonsense_Mutation	SNP	A	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr19:55752903A>T	uc002qjv.3	-	6	1219	c.1136T>A	c.(1135-1137)tTg>tAg	p.L379*	PPP6R1_uc002qjw.4_Nonsense_Mutation_p.L317*	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.	317	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						TAGGGCGTGCAAGGCGCCCAC	0.672000														11			4		0	0	0.009096	0	0
SLC7A2	6542	broad.mit.edu	37	8	17419589	17419589	+	Silent	SNP	G	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr8:17419589G>A	uc011kye.2	+	9	1809	c.1761G>A	c.(1759-1761)caG>caA	p.Q587Q	SLC7A2_uc011kyc.2_Silent_p.Q547Q|SLC7A2_uc011kyd.2_Silent_p.Q586Q	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	547					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTGGAGGCAGCCCCAGAATC	0.468000														32			28		0	0	0.005443	0	0
CSNK1D	1453	broad.mit.edu	37	17	80202675	80202675	+	Silent	SNP	C	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr17:80202675C>T	uc002kej.3	-	8	1567	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	CSNK1D_uc002kei.3_3'UTR|CSNK1D_uc010dil.3_Non-coding_Transcript|CSNK1D_uc002keh.3_3'UTR	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	410					DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GCACGACAGACTGAAGACCAC	0.557000											OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			36		0	0	0.008740	0	0
PPIA	5478	broad.mit.edu	37	7	44839397	44839397	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr7:44839397G>T	uc003tlw.3	+	3	369	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C	PPIA_uc003tlx.3_Non-coding_Transcript|PPIA_uc010kyl.3_Non-coding_Transcript	NM_021130	NP_066953	P62937	PPIA_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A) (PPIA), mRNA.	96	PPIase cyclophilin-type.				RNA-dependent DNA replication|entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	TACGGGTCCTGGCATCTTGTC	0.483000														94			22		1.96292e-10	2.19021e-10	0.010504	1	0
PDZD2	23037	broad.mit.edu	37	5	32059458	32059458	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:32059458C>A	uc003jhl.3	+	12	2702	c.2314C>A	c.(2314-2316)Ctg>Atg	p.L772M	PDZD2_uc003jhm.3_Missense_Mutation_p.L772M|PDZD2_uc011cnx.1_Missense_Mutation_p.L598M	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	772	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAGAGCAACCTGAGGTTTGT	0.448000														29			20		2.94398e-08	3.25065e-08	0.007413	1	0
RGS17	26575	broad.mit.edu	37	6	153332802	153332802	+	Silent	SNP	A	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr6:153332802A>T	uc003qpm.3	-	4	696	c.540T>A	c.(538-540)acT>acA	p.T180T		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	Homo sapiens regulator of G-protein signaling 17 (RGS17), mRNA.	180	RGS.				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TGTGCATTAAAGTATATATCT	0.353000														30			9		0	0	0.006214	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138103	138103	+	RNA	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chrGL000195.1:138103T>C	uc003won.1	+	0		c.137T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGGGGACGCATAGTTAAGGTG	0.597000														12			4		0	0	0.014758	0	0
NDEL1	81565	broad.mit.edu	37	17	8350137	8350137	+	Silent	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr17:8350137T>C	uc002glj.3	+	3	503	c.306T>C	c.(304-306)agT>agC	p.S102S	NDEL1_uc002gli.3_Silent_p.S102S	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog (A. nidulans)-like 1 (NDEL1), transcript variant 2, mRNA.	102	Interaction with KATNB1 (By similarity).|Self-association (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						ATGATTTAAGTCAGACTCGGG	0.463000														50			50		0	0	0.014410	0	0
SLC12A4	6560	broad.mit.edu	37	16	67982000	67982000	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr16:67982000G>A	uc010vkj.1	-	12	1857	c.1817C>T	c.(1816-1818)aCc>aTc	p.T606I	SLC12A4_uc010ceu.2_Missense_Mutation_p.T598I|SLC12A4_uc010vkh.1_Missense_Mutation_p.T573I|SLC12A4_uc002euz.2_Missense_Mutation_p.T604I|SLC12A4_uc010vki.1_Missense_Mutation_p.T604I|SLC12A4_uc002eva.2_Missense_Mutation_p.T604I|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	604					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGTTGGGGGTCCTCAGGAG	0.617000														163			51		0	0	0.014410	0	0
CSNK2A1	1457	broad.mit.edu	37	11	11373529	11373529	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr11:11373529C>A	uc001mjp.3	-	0	1376	c.1138G>T	c.(1138-1140)Ggg>Tgg	p.G380W	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	380					Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ACAGGCATCCCAAGGGGGTTG	0.597000														10			12		0.00244969	0.00252105	0.020292	1	0
DNMT3B	1789	broad.mit.edu	37	20	31375212	31375212	+	Silent	SNP	G	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr20:31375212G>A	uc002wyc.3	+	5	930	c.609G>A	c.(607-609)ccG>ccA	p.P203P	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.P203P|DNMT3B_uc002wye.3_Silent_p.P203P|DNMT3B_uc010ztz.2_Silent_p.P161P|DNMT3B_uc010zua.2_Silent_p.P127P|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.P215P	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	203	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGAGTCCCCGCAGGTGGAGG	0.637000														30			44		0	0	0.011902	0	0
IGFBP4	3487	broad.mit.edu	37	17	38612795	38612795	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr17:38612795A>G	uc002hus.3	+	3	1049	c.737A>G	c.(736-738)gAg>gGg	p.E246G		NM_001552	NP_001543	P22692	IBP4_HUMAN	Homo sapiens insulin-like growth factor binding protein 4 (IGFBP4), mRNA.	246	Thyroglobulin type-1.				DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCAAAGGGGGAGCTGGACTGC	0.657000														67			21		0	0	0.014323	0	0
NCKAP5	344148	broad.mit.edu	37	2	133721438	133721438	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:133721438T>G	uc002ttp.3	-	7	808	c.434A>C	c.(433-435)aAg>aCg	p.K145T	NCKAP5_uc002ttq.3_Missense_Mutation_p.K145T|NCKAP5_uc002tts.1_Missense_Mutation_p.K120T	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	145							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCTGACAGCTTTTCCTGAAG	0.428000														57			35		0	0	0.017118	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756790	94756790	+	Silent	SNP	C	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr14:94756790C>T	uc001yct.3	-	1	607	c.141G>A	c.(139-141)gaG>gaA	p.E47E	SERPINA10_uc001ycu.4_Silent_p.E47E	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	47					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTTCCTCTTCCTCCTTGGGAG	0.622000														19			8		0	0	0.013537	0	0
LDLRAP1	26119	broad.mit.edu	37	1	25889193	25889193	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:25889193A>G	uc001bkl.4	+	4	632	c.518A>G	c.(517-519)cAg>cGg	p.Q173R	LDLRAP1_uc009vrw.3_5'Flank|LDLRAP1_uc009vrx.3_5'Flank	NM_015627	NP_056442	Q5SW96	ARH_HUMAN	Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), mRNA.	173	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity	p.Q173*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTTTTGGCAGGTGTCCAAG	0.572000														30			23		0	0	0.018920	0	0
SSFA2	6744	broad.mit.edu	37	2	182778659	182778659	+	Splice_Site	SNP	A	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:182778659A>T	uc002uoi.3	+	10	1897	c.1575_splice	c.e10+1	p.Q525_splice	SSFA2_uc002uoh.3_Splice_Site_p.Q525_splice|SSFA2_uc002uoj.3_Splice_Site_p.Q525_splice|SSFA2_uc002uok.3_Splice_Site|SSFA2_uc010zfo.2_Splice_Site_p.Q372_splice|SSFA2_uc002uol.3_Splice_Site_p.Q372_splice|SSFA2_uc002uom.3_5'Flank	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	525						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AATCATCTTCAGGTAAAATTT	0.318000														17			20		0	0	0.007413	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1323010	1323010	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:1323010T>C	uc003jch.3	-	12	1343	c.1297A>G	c.(1297-1299)Atc>Gtc	p.I433V	CLPTM1L_uc003jcg.3_Missense_Mutation_p.I264V	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	433					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		AAGCTGTTGATTAACCAGGAG	0.388000														83			37		0	0	0.005524	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150634375	150634375	+	Silent	SNP	A	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:150634375A>T	uc001evj.2	-	3	562	c.345T>A	c.(343-345)ggT>ggA	p.G115G	GOLPH3L_uc010pci.1_Silent_p.G71G	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA.	115						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTAAAACATCACCTGTTGGGC	0.383000														64			32		0	0	0.013726	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47628617	47628617	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr20:47628617C>A	uc002xtx.4	+	27	4066	c.3914C>A	c.(3913-3915)cCt>cAt	p.P1305H	ARFGEF2_uc010zyf.2_Missense_Mutation_p.P598H	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1305					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCTGAGAGGCCTCGGGTTCGT	0.512000														144			46		6.32628e-17	7.36907e-17	0.014410	1	0
RORA	6095	broad.mit.edu	37	15	60849084	60849084	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr15:60849084T>C	uc002agv.3	-	2	419	c.263A>G	c.(262-264)gAa>gGa	p.E88G	RORA_uc002agt.4_Intron|RORA_uc021sni.1_Intron|RORA_uc002agw.3_Intron|RORA_uc002agx.3_Intron	NM_134260	NP_599022	P35398	RORA_HUMAN	Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 2, mRNA.	88	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTCCTTATCTTCCTTTTGTGA	0.403000														69			72		0	0	0.014410	0	0
PDE5A	8654	broad.mit.edu	37	4	120446828	120446828	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr4:120446828T>A	uc003idh.3	-	11	1810	c.1655A>T	c.(1654-1656)cAg>cTg	p.Q552L	PDE5A_uc003idf.3_Missense_Mutation_p.Q510L|PDE5A_uc003idg.3_Missense_Mutation_p.Q500L|AF085995_uc003idi.4_Intron	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	552					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TTTAAGGGTCTGGGCAGATGG	0.413000														59			38		0	0	0.005524	0	0
APOL6	80830	broad.mit.edu	37	22	36055131	36055131	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr22:36055131C>G	uc003aoe.3	+	2	814	c.520C>G	c.(520-522)Ctt>Gtt	p.L174V	APOL6_uc003aod.3_Non-coding_Transcript	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	Homo sapiens apolipoprotein L, 6 (APOL6), mRNA.	174					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TATCTATAATCTTAGAAACAC	0.493000														57			8		0	0	0.003080	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5240027	5240027	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:5240027C>G	uc003jdl.3	+	15	2650	c.2512C>G	c.(2512-2514)Ctg>Gtg	p.L838V	ADAMTS16_uc003jdk.1_Missense_Mutation_p.L838V	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	838	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAACGAGACACTGATTGTGGA	0.478000														102			12		0	0	0.020292	0	0
ACVR2A	92	broad.mit.edu	37	2	148677893	148677893	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:148677893G>A	uc002twg.3	+	8	1326	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	ACVR2A_uc010zbn.2_Missense_Mutation_p.A245T|ACVR2A_uc002twh.3_Missense_Mutation_p.A353T	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	353	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGGCAAGTCTGCAGGCGATAC	0.383000														50			31		0	0	0.010818	0	0
DAB2	1601	broad.mit.edu	37	5	39394411	39394411	+	Silent	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:39394411T>C	uc003jlx.3	-	1	543	c.12A>G	c.(10-12)gaA>gaG	p.E4E	DAB2_uc003jlw.3_Silent_p.E4E	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	4					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.E4K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGTTTCTACTTCGTTAGACA	0.478000														35			28		0	0	0.007291	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414170	19414170	+	RNA	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr13:19414170T>C	uc010tcj.1	-	0		c.31940A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTGAACAGTTGGTTCAAGT	0.269000														14			4		0	0	0.001984	0	0
GJB1	2705	broad.mit.edu	37	X	70444364	70444364	+	Silent	SNP	C	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chrX:70444364C>T	uc022byr.1	+	0	807	c.807C>T	c.(805-807)acC>acT	p.T269T	BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzf.3_Silent_p.T269T|GJB1_uc004dzg.3_Silent_p.T269T	NM_001097642	NP_001091111	P08034	CXB1_HUMAN	Homo sapiens gap junction protein, beta 1, 32kDa (GJB1), transcript variant 1, mRNA.	269					cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					GCCCTGGCACCGGGGCTGGGC	0.637000														3			5		0	0	0.001984	0	0
FAM5C	339479	broad.mit.edu	37	1	190068039	190068039	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:190068039G>C	uc001gse.1	-	7	1642	c.1410C>G	c.(1408-1410)agC>agG	p.S470R	FAM5C_uc010pot.1_Missense_Mutation_p.S368R	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	470						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGAGCCCCTGGCTGAGCATGT	0.577000														117			35		0	0	0.017118	0	0
CXorf38	159013	broad.mit.edu	37	X	40506303	40506303	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chrX:40506303A>G	uc004dew.3	-	1	354	c.307T>C	c.(307-309)Tgc>Cgc	p.C103R	CXorf38_uc010nhd.3_Non-coding_Transcript|CXorf38_uc004dev.1_5'UTR|CXorf38_uc011mko.2_Intron	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	Homo sapiens chromosome X open reading frame 38 (CXorf38), mRNA.	103										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CCCGGCCGGCAGTTTCCCCAG	0.622000														7			14		0	0	0.016723	0	0
SNX25	83891	broad.mit.edu	37	4	186188140	186188140	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr4:186188140G>A	uc003ixh.3	+	4	619	c.430G>A	c.(430-432)Gag>Aag	p.E144K		NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	Homo sapiens sorting nexin 25 (SNX25), mRNA.	144	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.E144Q(2)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GCCGGTAGTGGAGTTACTGAG	0.423000														48			34		0	0	0.017118	0	0
KLHL32	114792	broad.mit.edu	37	6	97562031	97562031	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr6:97562031G>T	uc010kcm.1	+	6	1472	c.1000G>T	c.(1000-1002)Gtg>Ttg	p.V334L	KLHL32_uc003poy.3_Missense_Mutation_p.V334L|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.V298L|KLHL32_uc011eae.1_Missense_Mutation_p.V265L|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	334										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TCCCATGCCTGTGGGAAGGAG	0.562000														84			6		0.00116845	0.00121427	0.001168	1	0
ATP7B	540	broad.mit.edu	37	13	52511445	52511445	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr13:52511445T>G	uc001vfw.2	-	18	4145	c.3988A>C	c.(3988-3990)Att>Ctt	p.I1330L	ATP7B_uc001vfy.2_Missense_Mutation_p.I1219L|ATP7B_uc010adv.2_Missense_Mutation_p.I900L|ATP7B_uc001vfx.2_Missense_Mutation_p.I1123L|ATP7B_uc010tgt.1_Missense_Mutation_p.I1265L|ATP7B_uc010tgu.1_Missense_Mutation_p.I1282L|ATP7B_uc010tgv.1_Missense_Mutation_p.I1252L|ATP7B_uc001vfv.2_Missense_Mutation_p.I602L|ATP7B_uc010tgs.1_Missense_Mutation_p.I541L	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	1330					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AGGTTATAAATCAGTGCCAGG	0.532000									Wilson disease					36			29		0	0	0.007291	0	0
ADCY8	114	broad.mit.edu	37	8	132052526	132052526	+	Silent	SNP	G	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr8:132052526G>A	uc003ytd.4	-	0	310	c.54C>T	c.(52-54)atC>atT	p.I18I	ADCY8_uc010mds.3_Silent_p.I18I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	18					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCGTCGGGTGGATGGTGTAGA	0.697000										HNSCC(32;0.087)				3			4		0	0	0.009096	0	0
HNRNPK	3190	broad.mit.edu	37	9	86587099	86587099	+	Silent	SNP	G	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr9:86587099G>T	uc004ang.4	-	10	875	c.651C>A	c.(649-651)ccC>ccA	p.P217P	HNRNPK_uc011lsw.2_5'UTR|HNRNPK_uc004and.4_5'UTR|HNRNPK_uc004anf.4_Silent_p.P217P|HNRNPK_uc004anh.4_Silent_p.P193P|HNRNPK_uc011lsx.2_Silent_p.P193P|HNRNPK_uc004anl.4_Silent_p.P217P|HNRNPK_uc004anm.4_Silent_p.P217P|MIR7-1_uc004ano.1_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	217	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GTCCTTTGATGGGAGACTAAA	0.403000														34			32		1.74807e-11	1.99242e-11	0.010818	1	0
IDE	3416	broad.mit.edu	37	10	94239044	94239044	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr10:94239044T>C	uc001kia.3	-	14	1950	c.1874A>G	c.(1873-1875)tAt>tGt	p.Y625C	IDE_uc010qnp.2_Missense_Mutation_p.Y70C|IDE_uc001khz.3_Intron	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	625					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATACATCCCATAGATGGTATT	0.408000														71			48		0	0	0.014410	0	0
KIAA0196	9897	broad.mit.edu	37	8	126085409	126085409	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr8:126085409T>G	uc003yrt.3	-	8	1465	c.1136A>C	c.(1135-1137)cAt>cCt	p.H379P	KIAA0196_uc011lir.2_Missense_Mutation_p.H231P	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	379					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GTCTGCTGTATGAAGCATCAG	0.448000														44			32		0	0	0.015359	0	0
CYP11B1	1584	broad.mit.edu	37	8	143957217	143957217	+	Silent	SNP	G	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr8:143957217G>A	uc010mey.3	-	7	1252	c.1245C>T	c.(1243-1245)agC>agT	p.S415S	CYP11B1_uc010mex.3_Silent_p.S20S|CYP11B1_uc003yxh.3_Silent_p.S60S|CYP11B1_uc003yxi.3_Silent_p.S344S|CYP11B1_uc003yxj.3_Silent_p.S344S	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	344					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CGGCGGCCAGGCTCTCCTGGC	0.652000									Familial Hyperaldosteronism type I					80			57		0	0	0.014410	0	0
NCAPD2	9918	broad.mit.edu	37	12	6638743	6638743	+	Silent	SNP	C	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr12:6638743C>A	uc001qoo.2	+	27	3683	c.3637C>A	c.(3637-3639)Cgg>Agg	p.R1213R	NCAPD2_uc010sfd.1_Silent_p.R1168R	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	1213					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCTGTGTCAGCGGTTCCGCAC	0.602000														80			17		2.35188e-11	2.65212e-11	0.006122	1	0
NCOA6	23054	broad.mit.edu	37	20	33330861	33330861	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr20:33330861T>C	uc002xav.3	-	11	5770	c.3199A>G	c.(3199-3201)Aga>Gga	p.R1067G	NCOA6_uc002xaw.3_Missense_Mutation_p.R1067G|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.R1067G|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1067	NCOA1-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATGGGCATTCTCTGGGAGTCG	0.537000														113			191		0	0	0.014410	0	0
GFER	2671	broad.mit.edu	37	16	2035934	2035934	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr16:2035934A>C	uc002cob.3	+	2	593	c.523A>C	c.(523-525)Aat>Cat	p.N175H	TCRBV20S1_uc021tak.1_Intron|GFER_uc002coc.3_Missense_Mutation_p.N100H	NM_005262	NP_005253	P55789	ALR_HUMAN	Homo sapiens growth factor, augmenter of liver regeneration (GFER), mRNA.	175	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	p.N175S(1)		endometrium(1)|large_intestine(1)|lung(3)	5						CCACCTGCACAATGAAGTGAA	0.587000														73			110		0	0	0.014410	0	0
C5orf42	65250	broad.mit.edu	37	5	37181023	37181023	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:37181023C>T	uc011cpa.1	-	26	5737	c.5506G>A	c.(5506-5508)Gta>Ata	p.V1836I	C5orf42_uc011coy.1_Missense_Mutation_p.V337I|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.V911I	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1836										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GGAGTTGCTACTGCAACTGAA	0.403000														37			21		0	0	0.012319	0	0
RPL8	6132	broad.mit.edu	37	8	146016869	146016869	+	Missense_Mutation	SNP	T	C	C	rs11539893	byFrequency	TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr8:146016869T>C	uc003zeb.3	-	3	403	c.292A>G	c.(292-294)Att>Gtt	p.I98V	RPL8_uc003zec.3_Missense_Mutation_p.I98V|RPL8_uc010mgc.3_3'UTR	NM_033301	NP_150644	P62917	RL8_HUMAN	Homo sapiens ribosomal protein L8 (RPL8), transcript variant 2, mRNA.	98			I -> V (in dbSNP:rs17850886).		endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		ACATTGCCAATGTTGAGCTGG	0.607000														33			3		0	0	0.004672	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL									65			6		0	0	0.001168	0	0
TNIP2	79155	broad.mit.edu	37	4	2746482	2746482	+	Missense_Mutation	SNP	G	A	A	rs150823075		TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr4:2746482G>A	uc003gfg.2	-	3	935	c.848C>T	c.(847-849)gCg>gTg	p.A283V	TNIP2_uc003gff.2_Missense_Mutation_p.A176V	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	283						cytosol	protein binding	p.L282P(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTGGAGGCCGCCAGCTCCTG	0.607000														54			44		0	0	0.009718	0	0
FAM75A6	389730	broad.mit.edu	37	9	43626666	43626666	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr9:43626666G>A	uc011lrb.2	-	3	2050	c.2021C>T	c.(2020-2022)aCc>aTc	p.T674I		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	674						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						ATTTTGTGGGGTCTCACCCAG	0.542000														98			100		0	0	0.014410	0	0
BAI1	575	broad.mit.edu	37	8	143623373	143623373	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr8:143623373G>C	uc003ywm.3	+	26	3961	c.3778G>C	c.(3778-3780)Gag>Cag	p.E1260Q		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1260					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCTCTGCCCGAGGAGGAGAA	0.682000														18			3		0	0	0.004672	0	0
BFAR	51283	broad.mit.edu	37	16	14755823	14755823	+	Silent	SNP	G	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr16:14755823G>T	uc002dco.3	+	5	1139	c.858G>T	c.(856-858)ctG>ctT	p.L286L	BFAR_uc010uzh.2_Silent_p.L158L	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	286					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TGCTCTACCTGTACCTGTTTG	0.567000														105			146		1.02779e-63	1.2241e-63	0.014410	1	0
DDAH2	23564	broad.mit.edu	37	6	31696435	31696435	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr6:31696435C>T	uc003nwp.3	-	1	1016	c.385G>A	c.(385-387)Gtt>Att	p.V129I	DDAH2_uc003nwq.3_Missense_Mutation_p.V129I	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	129					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GTGAAGAGAACGTCAGTGCCA	0.572000														22			16		0	0	0.004990	0	0
KLK14	43847	broad.mit.edu	37	19	51581412	51581412	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr19:51581412T>C	uc021uyk.1	-	6	875	c.656A>G	c.(655-657)gAc>gGc	p.D219G	KLK14_uc002pvs.1_Missense_Mutation_p.D219G	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	219	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		TCCCCCAGAGTCACCCTGAGG	0.622000														31			3		0	0	0.004672	0	0
DENND4B	9909	broad.mit.edu	37	1	153915526	153915526	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:153915526A>T	uc001fdd.1	-	2	799	c.398T>A	c.(397-399)cTg>cAg	p.L133Q		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	133	MABP.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGAGGGGCCAGGTTTGCTGA	0.637000														39			24		0	0	0.018920	0	0
FBN2	2201	broad.mit.edu	37	5	127641530	127641530	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr5:127641530G>C	uc003kuu.3	-	42	5972	c.5533C>G	c.(5533-5535)Ctg>Gtg	p.L1845V		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1845	EGF-like 29; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAAACCAACAGCAGGTCATTG	0.363000														98			11		0	0	0.008291	0	0
DNPEP	23549	broad.mit.edu	37	2	220239739	220239739	+	Silent	SNP	G	A	A			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:220239739G>A	uc002vle.2	-	13	1391	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	DNPEP_uc002vli.2_Silent_p.L362L|DNPEP_uc010zlg.2_Silent_p.L423L	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	405					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TCCGGACCATGAGATCCTAGG	0.582000														33			22		0	0	0.010504	0	0
KIAA0664	23277	broad.mit.edu	37	17	2595388	2595388	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr17:2595388G>T	uc002fuy.1	-	22	3533	c.3447C>A	c.(3445-3447)caC>caA	p.H1149Q	KIAA0664_uc002fux.1_Missense_Mutation_p.H1082Q|KIAA0664_uc010ckc.1_Missense_Mutation_p.H135Q	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	1149							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						CGACAAGGTGGTGGCTGCCGG	0.687000														3			8		1.12685e-05	1.19446e-05	0.004482	1	0
TCRBV5S2	0	broad.mit.edu	37	7	142131666	142131666	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr7:142131666A>G	uc010lnz.1	-	1	133	c.89T>C	c.(88-90)cTg>cCg	p.L30P	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CGTTTTGATCAGGTGTGTGGG	0.572000														110			26		0	0	0.006320	0	0
FBXO42	54455	broad.mit.edu	37	1	16577319	16577320	+	Frame_Shift_Ins	INS	-	TATTAAA	TATTAAA			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:16577319_16577320insTATTAAA	uc001ayg.3	-	9	2215_2216	c.1999_2000insTTTAATA	c.(1999-2001)agcfs	p.S667fs	FBXO42_uc001ayf.3_Frame_Shift_Ins_p.S574fs	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	667										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CACAGAACTGCTATTAAATACT	0.475													---	198	---	---	30	---					
ASAP3	55616	broad.mit.edu	37	1	23779230	23779231	+	Frame_Shift_Ins	INS	-	GG	GG			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:23779230_23779231insGG	uc001bha.2	-	3	506_507	c.382_383insCC	c.(382-384)ctgfs	p.L128fs	ASAP3_uc010odz.1_5'UTR|ASAP3_uc010oea.1_Frame_Shift_Ins_p.L128fs|ASAP3_uc001bhc.1_Frame_Shift_Ins_p.L128fs	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	128					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CAGACTGTCCAGGGGGAAAGAG	0.559													---	133	---	---	80	---					
CCDC18	343099	broad.mit.edu	37	1	93680444	93680444	+	Frame_Shift_Del	DEL	C	-	-			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:93680444delC	uc021opx.1	+	11	1801	c.1640delC	c.(1639-1641)gctfs	p.A547fs	CCDC18_uc009wdl.1_Frame_Shift_Del_p.A226fs	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	546										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GTTAACATGGCTCACAGAACT	0.388													---	22	---	---	11	---					
RPTN	126638	broad.mit.edu	37	1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	-	-			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr1:152127881_152127884delTGTC	uc001ezs.1	-	2	1756_1759	c.1691_1694delGACA	c.(1690-1695)agacaafs	p.R564fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	564	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485													---	791	---	---	7	---					
ACMSD	130013	broad.mit.edu	37	2	135659397	135659398	+	Frame_Shift_Ins	INS	-	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr2:135659397_135659398insT	uc002ttz.3	+	9	1045_1046	c.978_979insT	c.(976-981)gcatttfs	p.A326fs	ACMSD_uc002tua.3_Frame_Shift_Ins_p.A268fs|LOC100129961_uc010zbe.2_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	326					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		ATGCCCTGGCATTTTTGGGTCT	0.297													---	25	---	---	18	---					
HECTD2	143279	broad.mit.edu	37	10	93252242	93252243	+	Splice_Site	INS	-	T	T			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr10:93252242_93252243insT	uc010qnm.1	+	14	1544	c.1444_splice	c.e14+1	p.G482_splice	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Splice_Site_p.G478_splice|HECTD2_uc001khm.2_Splice_Site|HECTD2_uc009xty.1_Splice_Site_p.G67_splice|HECTD2_uc001khn.1_Splice_Site_p.G128_splice	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	478	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CCAGATTATGGTAAGTATGTAA	0.312													---	23	---	---	14	---					
STK24	8428	broad.mit.edu	37	13	99114124	99114125	+	Frame_Shift_Ins	INS	-	C	C			TCGA-A4-8310-01A-11D-2396-08	TCGA-A4-8310-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aaac72-5533-41b0-8bdb-8639f0339dd0	d8660b1d-6a91-4944-9e79-5911f80f873e	g.chr13:99114124_99114125insC	uc001vnm.1	-	7	1227_1228	c.992_993insG	c.(991-993)ggcfs	p.G331fs	STK24_uc001vnn.1_Frame_Shift_Ins_p.G319fs|STK24_uc010tim.1_Frame_Shift_Ins_p.G300fs	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	331					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAGAATCACTGCCCCCCGAGGC	0.535													---	71	---	---	41	---					
