Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SRD5A3	79644	broad.mit.edu	37	4	56225604	56225604	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:56225604C>G	ENST00000264228.4	+	2	541	c.313C>G	c.(313-315)Cca>Gca	p.P105A	SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	105					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			AGCACCTTTTCCAAGCTGGCT	0.488000													60	41					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26722055	26722055	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:26722055G>A	ENST00000380573.3	-	2	1455	c.432C>T	c.(430-432)ctC>ctT	p.L144L	ADRA1A_ENST00000380587.1_Silent_p.L144L|ADRA1A_ENST00000380586.1_Silent_p.L144L|ADRA1A_ENST00000380572.3_Silent_p.L144L|ADRA1A_ENST00000358857.5_Silent_p.L144L|ADRA1A_ENST00000380582.3_Silent_p.L144L|ADRA1A_ENST00000519229.1_Silent_p.L144L|ADRA1A_ENST00000354550.4_Silent_p.L144L|ADRA1A_ENST00000276393.4_Silent_p.L144L|ADRA1A_ENST00000380581.2_Silent_p.L144L			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	144					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GCAGAGCCATGAGACCCCTCC	0.637000													6	15					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52370947	52370947	+	Silent	SNP	T	T	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:52370947T>G	ENST00000296585.5	+	22	2864	c.2721T>G	c.(2719-2721)tcT>tcG	p.S907S		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	907					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATCAGGCGTCTCTCAGTTTCC	0.313000													19	60					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110222220	110222220	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:110222220G>T	ENST00000418703.2	-	14	2453	c.2359C>A	c.(2359-2361)Cac>Aac	p.H787N	TRPV4_ENST00000346520.2_Missense_Mutation_p.H727N|TRPV4_ENST00000261740.2_Missense_Mutation_p.H787N|TRPV4_ENST00000544971.1_Missense_Mutation_p.H680N|TRPV4_ENST00000537083.1_Missense_Mutation_p.H727N|TRPV4_ENST00000536838.1_Missense_Mutation_p.H753N|TRPV4_ENST00000541794.1_Missense_Mutation_p.H740N|TRPV4_ENST00000392719.2_Missense_Mutation_p.H740N	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	787					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.H787Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGGTTCCAGTGAGACCAGTTC	0.607000													20	19					1.64113e-05	1.69642e-05	1	1	0
KIAA0232	9778	broad.mit.edu	37	4	6863088	6863088	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:6863088G>T	ENST00000307659.5	+	7	1434	c.979G>T	c.(979-981)Ggg>Tgg	p.G327W	KIAA0232_ENST00000425103.1_Missense_Mutation_p.G327W	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	327							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AAACAAAAAAGGGCGGAATGG	0.443000													17	14					2.23348e-06	2.32107e-06	1	1	0
GOLGA4	2803	broad.mit.edu	37	3	37337616	37337616	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:37337616G>A	ENST00000361924.2	+	7	1094	c.720G>A	c.(718-720)atG>atA	p.M240I	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.M262I	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	240					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGGCCCGATGAATGTTGATG	0.393000													17	110					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35807043	35807043	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:35807043G>A	ENST00000342694.2	+	17	2798	c.2543G>A	c.(2542-2544)cGg>cAg	p.R848Q		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	848					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CAGTTAAAACGGGGAGAGACT	0.517000													15	42					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476481	35476481	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:35476481C>T	ENST00000357182.4	-	9	1446	c.1219G>A	c.(1219-1221)Gcc>Acc	p.A407T	ZMYM6_ENST00000487874.1_Missense_Mutation_p.A407T|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A407T	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	407					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGGAGGCTGGCTGCAGCAGAG	0.522000													19	33					0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174820676	174820676	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:174820676G>A	ENST00000310015.6	-	4	1094	c.564C>T	c.(562-564)ttC>ttT	p.F188F	SP3_ENST00000455789.2_Silent_p.F135F|SP3_ENST00000418194.2_Silent_p.F120F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	188	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AAGAGCCTGTGAAACCAATTT	0.428000													66	126					0	0	1	0	0
KRTCAP2	200185	broad.mit.edu	37	1	155142003	155142003	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:155142003G>A	ENST00000473363.2	-	5	634	c.635C>T	c.(634-636)tCa>tTa	p.S212L	KRTCAP2_ENST00000295682.4_Silent_p.I134I|KRTCAP2_ENST00000490672.1_5'UTR																							AGATCTTGTTGATGTAGTACA	0.522000													8	67					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41135362	41135362	+	Silent	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:41135362C>A	ENST00000308370.7	+	34	4779	c.4779C>A	c.(4777-4779)ctC>ctA	p.L1593L	LTBP4_ENST00000396819.3_Silent_p.L1526L|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.L1556L|LTBP4_ENST00000545697.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1594	EGF-like 16.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCGTTGCCTCAACACGGATG	0.692000													26	38					5.61819e-17	6.14522e-17	1	1	0
FAM73B	84895	broad.mit.edu	37	9	131832215	131832215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:131832215C>T	ENST00000358369.4	+	15	1772	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	516						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						ACCCAAGCCTCAGCTTGCTGA	0.572000													73	145					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33359731	33359731	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:33359731G>C	ENST00000334528.9	-	1	354	c.355C>G	c.(355-357)Caa>Gaa	p.Q119E	FMN1_ENST00000558197.1_Missense_Mutation_p.Q119E|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AGCAGCTCTTGAGCAAGGAGA	0.483000													22	23					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16925938	16925938	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:16925938G>A	ENST00000552788.1	+	18	4493	c.4493G>A	c.(4492-4494)cGa>cAa	p.R1498Q	NWD1_ENST00000339803.6_Missense_Mutation_p.R1363Q|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000379808.3_3'UTR|NWD1_ENST00000549814.1_Missense_Mutation_p.R1456Q|NWD1_ENST00000523826.1_Missense_Mutation_p.R1292Q			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1498							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATCTGATCCGAGAGAATTTC	0.517000													28	43					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865654	6865654	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:6865654C>G	ENST00000307659.5	+	7	4000	c.3545C>G	c.(3544-3546)tCt>tGt	p.S1182C	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S1182C	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1182							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTAAAAAAATCTGGGATGGAA	0.418000													16	19					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846221	123846221	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:123846221C>T	ENST00000369005.1	+	4	4546	c.4206C>T	c.(4204-4206)ctC>ctT	p.L1402L	TACC2_ENST00000453444.2_Silent_p.L1402L|TACC2_ENST00000515603.1_Silent_p.L1402L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.L1402L|TACC2_ENST00000515273.1_Silent_p.L1402L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1402						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCGCCACCCTCACTGGCTTCC	0.597000													18	28					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19154593	19154593	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:19154593G>C	ENST00000269214.5	-	4	1149	c.212C>G	c.(211-213)tCa>tGa	p.S71*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	71					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGCTGCCTTTGATGACCTTGT	0.348000													38	109					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950461	235950461	+	Missense_Mutation	SNP	G	G	A	rs146281552	byFrequency	TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:235950461G>A	ENST00000409212.1	+	4	1555	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	SH3BP4_ENST00000344528.4_Missense_Mutation_p.E350K|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E350K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	350					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGCCCCTGGGGAGACCCAGCA	0.627000													6	17					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012173	160012173	+	Silent	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:160012173G>C	ENST00000368089.3	-	2	376	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	50				L -> P (in Ref. 2; AAB07046).		integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTGAGGTAGAGGAAGCGCT	0.567000													27	76					0	0	1	0	0
SLC25A27	9481	broad.mit.edu	37	6	46620974	46620974	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:46620974G>C	ENST00000371347.5	+	1	297	c.45G>C	c.(43-45)caG>caC	p.Q15H	SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Missense_Mutation_p.Q15H	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	15					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			CGCTGACCCAGAGATGGCCCC	0.677000													3	11					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060073	16060073	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:16060073C>A	ENST00000322107.1	+	1	256	c.256C>A	c.(256-258)Ctg>Atg	p.L86M		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTGGCTGATCTGCTTTCCAC	0.507000													9	268					7.48243e-07	7.81766e-07	1	1	0
ALG11	440138	broad.mit.edu	37	13	52598639	52598639	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr13:52598639C>T	ENST00000521508.1	+	3	778	c.773C>T	c.(772-774)tCt>tTt	p.S258F	ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		ATGGTCAATTCTTCTTGGACA	0.373000													41	71					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			21	20					0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17600920	17600920	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:17600920G>C	ENST00000259963.3	+	1	335	c.280G>C	c.(280-282)Gag>Cag	p.E94Q		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	94						integral to membrane		p.E94K(1)|p.E94Q(1)		endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GGCGGGCTGCGAGGCGCCCGA	0.731000													5	5					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41350848	41350848	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:41350848C>G	ENST00000361937.3	-	16	2398	c.1974G>C	c.(1972-1974)aaG>aaC	p.K658N	INO80_ENST00000401393.3_Missense_Mutation_p.K658N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	658	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGAACTACTCTTGAGCGCCT	0.468000													18	43					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55253542	55253542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:55253542C>A	ENST00000337526.6	-	3	1936	c.1693G>T	c.(1693-1695)Gaa>Taa	p.E565*	RTN4_ENST00000405240.1_Nonsense_Mutation_p.E359*|RTN4_ENST00000357376.3_Nonsense_Mutation_p.E359*|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Nonsense_Mutation_p.E359*|RTN4_ENST00000404909.1_Nonsense_Mutation_p.E359*|RTN4_ENST00000354474.6_Nonsense_Mutation_p.E333*	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	565					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CCAGTAACTTCATTCAATTCA	0.408000													33	60					6.53348e-20	7.18682e-20	1	1	0
SCAND3	114821	broad.mit.edu	37	6	28554491	28554491	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:28554491C>T	ENST00000452236.2	-	1	621	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	2					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GAGACTGCTTCCATCCCGAGC	0.483000													11	12					0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132910579	132910579	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:132910579G>A	ENST00000258034.2	-	1	298	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	83					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		AGCAGACCCAGAAACATGTCA	0.582000													14	53					0	0	1	0	0
EFCAB14	9813	broad.mit.edu	37	1	47152536	47152536	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:47152536C>G	ENST00000371933.3	-	8	1970	c.994G>C	c.(994-996)Gat>Cat	p.D332H	EFCAB14_ENST00000544071.1_Missense_Mutation_p.D268H|EFCAB14_ENST00000484461.1_5'UTR|EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14-AS1_ENST00000442839.1_RNA	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		GCAGATCTATCACCCATCTTA	0.353000													15	26					0	0	1	0	0
GEMIN8	54960	broad.mit.edu	37	X	14027261	14027261	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chrX:14027261C>T	ENST00000380523.4	-	5	818	c.500G>A	c.(499-501)cGc>cAc	p.R167H	GEMIN8_ENST00000398355.3_Missense_Mutation_p.R167H	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	167					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						GCTGTCCAGGCGCTCTGCATC	0.602000													14	29					0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89755690	89755690	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:89755690G>C	ENST00000353379.7	+	2	161	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000331006.8_Intron|CDK10_ENST00000505473.1_5'UTR	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	40	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GAAGGAGTTTGAGAAGCTGAA	0.537000													25	9					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153317830	153317830	+	Silent	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:153317830G>C	ENST00000368739.3	-	4	514	c.156C>G	c.(154-156)gtC>gtG	p.V52V	PGLYRP4_ENST00000359650.5_Silent_p.V56V|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	56					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTGCGAGAGACCGTGGTGG	0.582000													18	69					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47754634	47754634	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr21:47754634C>G	ENST00000359568.5	+	3	698	c.591C>G	c.(589-591)atC>atG	p.I197M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	197					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCGTGGGATCTTCACAATCA	0.468000													21	46					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32061183	32061183	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:32061183G>C	ENST00000438447.1	+	14	2782	c.2394G>C	c.(2392-2394)ttG>ttC	p.L798F	PDZD2_ENST00000282493.3_Missense_Mutation_p.L798F			O15018	PDZD2_HUMAN	PDZ domain containing 2	798	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						ACGCCATCTTGAGTAAATGCC	0.557000													12	27					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13165999	13165999	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:13165999G>A	ENST00000378748.3	+	10	1249	c.887G>A	c.(886-888)gGa>gAa	p.G296E	OPTN_ENST00000263036.5_Missense_Mutation_p.G296E|OPTN_ENST00000378764.2_Missense_Mutation_p.G290E|OPTN_ENST00000378747.3_Missense_Mutation_p.G296E|OPTN_ENST00000378757.2_Missense_Mutation_p.G296E|OPTN_ENST00000378752.3_Missense_Mutation_p.G290E	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	296					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TGATAGGTTGGAAGCGAAGTG	0.413000													7	19					0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59144134	59144134	+	Silent	SNP	T	T	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:59144134T>A	ENST00000559228.1	+	8	1789	c.1707T>A	c.(1705-1707)gcT>gcA	p.A569A	FAM63B_ENST00000450403.2_Silent_p.A569A			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	569	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AAGCAGCAGCTGCTGCTGCTG	0.473000													3	56					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789145	80789145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:80789145C>A	ENST00000269394.3	-	2	2019	c.1186G>T	c.(1186-1188)Gaa>Taa	p.E396*	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	396						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTGGACCCTTCCGTGTCTCTC	0.602000													30	113					3.69857e-22	4.08383e-22	1	1	0
LDLRAD4	753	broad.mit.edu	37	18	13612736	13612736	+	Silent	SNP	G	G	A	rs35814252		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:13612736G>A	ENST00000587757.1	+	1	1274	c.33G>A	c.(31-33)ctG>ctA	p.L11L	LDLRAD4_ENST00000359446.5_Intron|LDLRAD4_ENST00000590308.1_3'UTR|LDLRAD4_ENST00000399848.3_Intron|LDLRAD4_ENST00000586765.1_Silent_p.L11L|LDLRAD4_ENST00000361205.4_Intron|LDLRAD4_ENST00000585931.1_Intron	NM_001003674.3	NP_001003674.1			low density lipoprotein receptor class A domain containing 4									p.L11L(1)									ACAGCACACTGAAGGAGGCTC	0.488000													11	23					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512656	248512656	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:248512656G>A	ENST00000317861.1	+	1	580	c.580G>A	c.(580-582)Gag>Aag	p.E194K		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTTCAGCAATGAGGTCATGAT	0.493000													19	48					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21153552	21153552	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:21153552C>G	ENST00000255882.6	-	16	1919	c.1833G>C	c.(1831-1833)ttG>ttC	p.L611F	PI4KA_ENST00000572273.1_Missense_Mutation_p.L553F	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	553					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGTCGGGAATCAAGTGAGCGT	0.537000													11	14					0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118972485	118972485	+	Silent	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chrX:118972485G>C	ENST00000276201.2	-	9	921	c.852C>G	c.(850-852)ctC>ctG	p.L284L	UPF3B_ENST00000345865.2_Silent_p.L271L|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	284	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTGGCTTCTTGAGCAGCTTTA	0.328000													30	14					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759304	55759304	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:55759304G>C	ENST00000343399.3	+	1	410	c.410G>C	c.(409-411)aGa>aCa	p.R137T		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATGAGCACCAGAGTGTGTACC	0.478000													16	21					0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74547155	74547155	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:74547155C>T	ENST00000299563.4	+	6	1520	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	503							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TGATCTTGATCATTTCCCCTC	0.463000													17	126					0	0	1	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	98988975	98988975	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:98988975G>C	ENST00000453547.2	-	11	1402	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	ARHGAP19_ENST00000358531.4_Missense_Mutation_p.S468C|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.S439C|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.S468C|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.S459C|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.S459C																							TGGAGAGCCAGAAAATAACTG	0.348000													14	35					0	0	1	0	0
GJD4	219770	broad.mit.edu	37	10	35896766	35896766	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:35896766C>T	ENST00000321660.1	+	2	483	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	109					cell communication	connexon complex|integral to membrane		p.R109S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCTGGGCCCCCGCCGCTGCCC	0.756000													17	18					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49053480	49053480	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:49053480G>C	ENST00000440857.1	-	11	1570	c.868C>G	c.(868-870)Ccg>Gcg	p.P290A	DALRD3_ENST00000441576.2_Missense_Mutation_p.S448C|DALRD3_ENST00000313778.5_Missense_Mutation_p.P290A|DALRD3_ENST00000395462.4_Missense_Mutation_p.P290A|DALRD3_ENST00000341949.4_Missense_Mutation_p.P457A			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	457					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCAGATCCGGAAAGGGGAGG	0.592000													20	28					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018975	1018975	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:1018975C>T	ENST00000398484.2	+	8	1935	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	FGFRL1_ENST00000504138.1_Missense_Mutation_p.S452F|FGFRL1_ENST00000510644.1_Missense_Mutation_p.S452F|FGFRL1_ENST00000264748.6_Missense_Mutation_p.S452F			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	452					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAGCATGGGTCTCCGGCAGCC	0.662000													6	9					0	0	1	0	0
TALDO1	6888	broad.mit.edu	37	11	764430	764430	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:764430G>A	ENST00000319006.3	+	7	1131	c.978G>A	c.(976-978)ctG>ctA	p.L326L	TALDO1_ENST00000528097.1_3'UTR|TALDO1_ENST00000532202.1_3'UTR			P37837	TALDO_HUMAN	transaldolase 1	326					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		AGCGGATGCTGACAGTGAGTG	0.562000													11	6					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127644113	127644113	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:127644113C>G	ENST00000373555.4	-	21	2419	c.2086G>C	c.(2086-2088)Gag>Cag	p.E696Q		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	696	GRIP.					Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TTAAGGTACTCAAAGTTGATC	0.498000													29	44					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122802115	122802115	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chrX:122802115C>T	ENST00000245838.8	-	10	943	c.912G>A	c.(910-912)gcG>gcA	p.A304A	THOC2_ENST00000491737.1_Silent_p.A189A|THOC2_ENST00000355725.4_Silent_p.A304A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	304					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GCTTAGCTTCCGCAATTTCTC	0.348000													50	29					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968039	102968039	+	Silent	SNP	G	G	A	rs111942110	byFrequency	TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:102968039G>A	ENST00000233954.1	+	11	1600	c.1329G>A	c.(1327-1329)cgG>cgA	p.R443R		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	443	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGAGCAGGCGGCACATTTTCA	0.458000													3	51					0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94230225	94230225	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:94230225G>A	ENST00000544253.1	+	2	484	c.366G>A	c.(364-366)gtG>gtA	p.V122V	ANKRD49_ENST00000540349.1_Silent_p.V122V|ANKRD49_ENST00000302755.4_Intron|ANKRD49_ENST00000544612.1_Intron			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	0					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				tcttgattgtgaggaccaaat	0.383000													15	18					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969053	5969053	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:5969053G>A	ENST00000329564.6	+	1	484	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTGCTTATGACTCTGCCCA	0.438000													14	60					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51450285	51450285	+	Splice_Site	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:51450285G>T	ENST00000418425.2	+	7	973	c.954G>T	c.(952-954)tcG>tcT	p.S318S	LETMD1_ENST00000550929.1_Splice_Site_p.S249S|LETMD1_ENST00000552739.1_Splice_Site_p.S188S|LETMD1_ENST00000262055.4_Splice_Site_p.S305S|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000547008.1_Splice_Site_p.S181S|LETMD1_ENST00000548516.1_3'UTR	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	305	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						AAGTAAAATCGGTAAGAGCTT	0.478000													18	30					1.56452e-12	1.69539e-12	1	1	0
NUDT13	25961	broad.mit.edu	37	10	74890529	74890529	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:74890529G>A	ENST00000357321.4	+	9	1045	c.927G>A	c.(925-927)ctG>ctA	p.L309L	NUDT13_ENST00000372997.3_3'UTR|NUDT13_ENST00000349051.5_Silent_p.L220L|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000537969.1_Silent_p.L112L|NUDT13_ENST00000544879.1_Silent_p.L183L	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	309	Nudix hydrolase.						hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					CCACAGCCCTGAAGAGAAAGG	0.493000													15	28					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35696785	35696785	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:35696785G>C	ENST00000353139.5	-	2	545	c.64C>G	c.(64-66)Cag>Gag	p.Q22E	ACACA_ENST00000416895.1_5'UTR|ACACA_ENST00000394406.2_5'UTR	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	0					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTACTGTCTGAGTAGATATC	0.289000													10	43					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13615139	13615139	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:13615139C>A	ENST00000040738.5	-	5	1456	c.1321G>T	c.(1321-1323)Gat>Tat	p.D441Y		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	441	Lys-rich.						DNA binding										GCTTTACCATCTGACGTAATC	0.383000													22	21					1.64293e-13	1.787e-13	1	1	0
HIRA	7290	broad.mit.edu	37	22	19396014	19396014	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:19396014T>C	ENST00000263208.5	-	3	459	c.203A>G	c.(202-204)aAt>aGt	p.N68S	HIRA_ENST00000340170.4_Missense_Mutation_p.N68S|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000541063.1_Missense_Mutation_p.N24S|HIRA_ENST00000546308.1_Missense_Mutation_p.N24S	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	68					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ACCTAAGTGATTGTCCATCTG	0.473000													10	33					0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20403859	20403859	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:20403859G>A	ENST00000381150.1	-	4	732	c.342C>T	c.(340-342)ctC>ctT	p.L114L	SDC1_ENST00000403076.1_Silent_p.L114L|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000254351.4_Silent_p.L114L	NM_001006946.1	NP_001006947	P18827	SDC1_HUMAN	syndecan 1	114					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CCCGGGCGGTGAGGCCAGGCT	0.701000													16	20					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37180122	37180122	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:37180122C>T	ENST00000274258.7	-	28	5961	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1912K|C5orf42_ENST00000508244.1_Missense_Mutation_p.E1912K			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1912										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)			AACTGACCTTCATAGTCTGAT	0.259000													28	48					0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125464186	125464186	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:125464186G>A	ENST00000328599.3	+	1	1139	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	340					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCAAAATGTGGAATCTTTCCC	0.483000													18	17					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8526429	8526429	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:8526429C>G	ENST00000360416.3	-	2	274	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	MYH10_ENST00000379980.4_Missense_Mutation_p.E46Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E46Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E46Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	46	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTAGCTGCCTCAAAACCATGG	0.443000													57	53					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42824620	42824620	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr21:42824620G>T	ENST00000398600.2	+	18	2607	c.1582G>T	c.(1582-1584)Gaa>Taa	p.E528*	MX1_ENST00000398598.3_Nonsense_Mutation_p.E528*|MX1_ENST00000455164.2_Nonsense_Mutation_p.E528*|MX1_ENST00000288383.6_Nonsense_Mutation_p.E505*	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	528					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CTTCCAGATGGAACAGATTGT	0.423000													25	74					1.1804e-14	1.2863e-14	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2742830	2742830	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:2742830C>A	ENST00000406454.3	+	30	3864	c.3864C>A	c.(3862-3864)ttC>ttA	p.F1288L	CACNA1C_ENST00000399644.1_Missense_Mutation_p.F1288L|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399629.1_Missense_Mutation_p.F1288L|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.F1288L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.F1288L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.F1288L|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.F1288L|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399597.1_Missense_Mutation_p.F1288L|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000347598.4_Missense_Mutation_p.F1308L			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1308					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTTTTGACTTCCTCATCGTAA	0.453000													16	28					9.16793e-09	9.71801e-09	1	1	0
ZNF506	440515	broad.mit.edu	37	19	19905934	19905934	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:19905934C>G	ENST00000443905.2	-	4	909	c.762G>C	c.(760-762)gaG>gaC	p.E254D	CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.E222D|ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.E254D			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TGTAGGGTTTCTCTCCAGTAT	0.383000													44	74					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64064472	64064472	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:64064472C>T	ENST00000539216.1	+	2	672	c.312C>T	c.(310-312)atC>atT	p.I104I	KCNK4_ENST00000422670.2_Splice_Site_p.I104I|KCNK4_ENST00000538767.1_Splice_Site_p.S38L|KCNK4_ENST00000394525.2_Splice_Site_p.I104I|KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	104						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						TCACCACCATCGGTGGGGGAG	0.642000													5	28					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432558	117432558	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:117432558A>G	ENST00000160373.3	-	4	783	c.692T>C	c.(691-693)cTc>cCc	p.L231P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	231										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AAACTCAGAGAGTTGTTTTTC	0.453000													15	22					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409282	59409282	+	Silent	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:59409282G>T	ENST00000301645.3	-	3	926	c.789C>A	c.(787-789)ctC>ctA	p.L263L		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	263					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AAGTGTCATTGAGAAACATGC	0.527000									Neonatal Giant Cell Hepatitis				46	56					8.72198e-27	9.6488e-27	1	1	0
DNMBP	23268	broad.mit.edu	37	10	101637013	101637013	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:101637013G>A	ENST00000342239.3	-	17	4792	c.4701C>T	c.(4699-4701)ctC>ctT	p.L1567L	DNMBP_ENST00000324109.4_Silent_p.L1543L|DNMBP_ENST00000540316.1_Silent_p.L479L|DNMBP_ENST00000543621.1_Silent_p.L789L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1543	SH3 6.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTTTAAACTCGAGGATCTTGA	0.463000													27	78					0	0	1	0	0
C1orf146	388649	broad.mit.edu	37	1	92709888	92709888	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:92709888C>T	ENST00000370373.2	+	5	562	c.98C>T	c.(97-99)tCt>tTt	p.S33F	C1orf146_ENST00000370375.3_Missense_Mutation_p.S92F			Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	92										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTGGTTTTGTCTGCTGCCCTC	0.328000													13	19					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622176	64622176	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:64622176C>T	ENST00000320631.3	-	5	1488	c.1234G>A	c.(1234-1236)Ggc>Agc	p.G412S	EHD1_ENST00000359393.2_Missense_Mutation_p.G412S|EHD1_ENST00000488711.1_5'UTR	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	412					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TCAAAGGCGCCGCCCTTGACC	0.672000													47	74					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109613964	109613964	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:109613964G>A	ENST00000338432.7	+	9	1452	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	ACACB_ENST00000377854.5_Missense_Mutation_p.E445K|ACACB_ENST00000377848.3_Missense_Mutation_p.E445K|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	445	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCAGGCAGCAGAAAGAATTGG	0.542000													64	69					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39646040	39646040	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:39646040G>C	ENST00000328119.6	-	1	76	c.77C>G	c.(76-78)tCt>tGt	p.S26C	KRT36_ENST00000393986.2_Intron	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	26	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGACACCCGAGAGATGCCGCC	0.627000													14	38					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12265655	12265655	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:12265655G>C	ENST00000256194.4	+	21	3068	c.2780G>C	c.(2779-2781)aGa>aCa	p.R927T	MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.R927T|MICAL2_ENST00000537344.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	927						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.R927K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCTCCTGCCAGAAAGGTAGTT	0.502000													45	80					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38319961	38319961	+	Missense_Mutation	SNP	G	G	A	rs139973585		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:38319961G>A	ENST00000264645.7	+	7	1239	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	338					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CATGGTGGCCGGTCTGGTGAG	0.552000													4	227					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72649730	72649730	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:72649730C>G	ENST00000273951.8	-	1	349	c.6G>C	c.(4-6)aaG>aaC	p.K2N	GC_ENST00000513476.1_Missense_Mutation_p.K2N|GC_ENST00000504199.1_Missense_Mutation_p.K21N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	2					hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CCAGGACCCTCTTCATTTTTC	0.403000													13	16					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178417035	178417035	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:178417035C>G	ENST00000408939.3	-	1	707	c.457G>C	c.(457-459)Gag>Cag	p.E153Q		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CCATCGGTCTCATTCTCGCCC	0.582000													57	139					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131761996	131761996	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:131761996G>C	ENST00000372577.2	+	34	3776	c.3755G>C	c.(3754-3756)aGt>aCt	p.S1252T		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1252					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCCGCCACAGTCTGGCATTA	0.572000													6	31					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35724326	35724326	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:35724326G>C	ENST00000373664.3	-	1	72	c.6C>G	c.(4-6)ttC>ttG	p.F2L	RBL1_ENST00000344359.3_Missense_Mutation_p.F2L|RBL1_ENST00000598590.1_Silent_p.S46S	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	2					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GCTTGTCCTCGAACATCCCTT	0.721000													5	5					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59894858	59894858	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:59894858G>T	ENST00000256858.6	+	7	1338	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y	KIAA1468_ENST00000398130.2_Missense_Mutation_p.D364Y			Q9P260	K1468_HUMAN	KIAA1468	364							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GAAATTAGAAGATAAAATTAG	0.294000													13	29					4.7546e-09	5.05827e-09	1	1	0
MTBP	27085	broad.mit.edu	37	8	121535570	121535570	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:121535570G>A	ENST00000305949.1	+	22	2754	c.2709G>A	c.(2707-2709)aaG>aaA	p.K903K		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	903	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGACAAGCAAGAAATGATACA	0.269000													38	78					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27598378	27598378	+	Silent	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:27598378G>C	ENST00000233575.2	+	10	1002	c.780G>C	c.(778-780)ctG>ctC	p.L260L	SNX17_ENST00000542478.1_Silent_p.L46L|SNX17_ENST00000537606.1_Silent_p.L235L|SNX17_ENST00000543024.1_Silent_p.L46L	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	260					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGTTCCTGAGACTGGCCC	0.572000													14	35					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154749283	154749283	+	Silent	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:154749283C>G	ENST00000607772.1	-	7	1252	c.708G>C	c.(706-708)gtG>gtC	p.V236V	CNKSR3_ENST00000433165.2_Silent_p.V61V|CNKSR3_ENST00000479339.1_Silent_p.V156V	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	236	PDZ.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TTCCAGTAATCACGTGTAACC	0.358000													3	17					0	0	1	0	0
FTL	2512	broad.mit.edu	37	19	49468864	49468864	+	Missense_Mutation	SNP	C	C	G	rs11553192		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:49468864C>G	ENST00000331825.6	+	1	307	c.100C>G	c.(100-102)Ctg>Gtg	p.L34V		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	34	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	CTACCTCTCTCTGGTGAGTCC	0.597000													33	48					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231471482	231471482	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:231471482C>G	ENST00000366645.1	-	1	2116	c.1998G>C	c.(1996-1998)aaG>aaC	p.K666N	EXOC8_ENST00000360394.2_Missense_Mutation_p.K670N			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	670					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TAAAAGCTTTCTTCTCTGGAT	0.448000													37	126					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19680619	19680619	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:19680619C>A	ENST00000438132.3	+	27	2674	c.2626C>A	c.(2626-2628)Ccg>Acg	p.P876T	C16orf62_ENST00000251143.5_Missense_Mutation_p.P787T|C16orf62_ENST00000417362.2_Missense_Mutation_p.P694T|C16orf62_ENST00000542263.1_Missense_Mutation_p.P783T|C16orf62_ENST00000448695.1_Missense_Mutation_p.P637T|C16orf62_ENST00000543152.1_Missense_Mutation_p.P536T	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	787						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ATTAATAGTTCCGGTACGTTT	0.403000													47	47					2.74695e-27	3.04463e-27	1	1	0
RHPN2	85415	broad.mit.edu	37	19	33517411	33517411	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:33517411C>T	ENST00000254260.3	-	3	348	c.313G>A	c.(313-315)Gag>Aag	p.E105K	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	105					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CCCACTTACTCTGTGTTCTGA	0.552000													4	182					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272325	65272325	+	RNA	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:65272325G>C	ENST00000534336.1	+	0	7093					NR_002819.2																						CGAAGGGCCAGAGAAGCCAGA	0.413000													12	15					0	0	1	0	0
IFNL3	282617	broad.mit.edu	37	19	39734538	39734538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:39734538G>A	ENST00000413851.2	-	4	456	c.418C>T	c.(418-420)Cag>Tag	p.Q140*		NM_172139.2	NP_742151.2			interferon, lambda 3																		GCCGTGGGCTGAGGCTGGATC	0.697000													24	53					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122283309	122283309	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:122283309C>T	ENST00000296161.4	+	1	225	c.36C>T	c.(34-36)ctC>ctT	p.L12L	PARP9_ENST00000360356.2_5'UTR|DTX3L_ENST00000383661.3_Silent_p.L12L|PARP9_ENST00000477522.2_5'UTR	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	12					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CCCCGCTCCTCGTGCGGGTGT	0.726000													13	11					0	0	1	0	0
FEM1B	10116	broad.mit.edu	37	15	68583478	68583478	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:68583478G>A	ENST00000306917.4	+	2	2397	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	594					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTCAAATGAAGATGAGTCTCA	0.438000													7	37					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96574438	96574438	+	Silent	SNP	A	A	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:96574438A>C	ENST00000295246.5	-	19	951	c.210T>G	c.(208-210)tcT>tcG	p.S70S	ANKRD36C_ENST00000456556.1_Intron|ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR					ankyrin repeat domain 36C									p.S70S(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GTGGTTGCTCAGAAGACACTG	0.323000													4	8					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8140762	8140762	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:8140762C>T	ENST00000315684.8	-	5	730	c.723G>A	c.(721-723)caG>caA	p.Q241Q	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	241					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGTAAGCTTTCTGTTTACTTT	0.493000													16	11					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906089	129906089	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:129906089C>T	ENST00000368654.3	-	13	4390	c.4015G>A	c.(4015-4017)Gag>Aag	p.E1339K	MKI67_ENST00000368653.3_Missense_Mutation_p.E979K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1339	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCTGGGCCTCTTCCTTAGGA	0.498000													52	73					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55733513	55733513	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:55733513C>T	ENST00000288221.6	-	16	2995	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	914						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCATAGTTGTCTGCCATCAAC	0.483000													7	113					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200801405	200801405	+	Silent	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:200801405G>C	ENST00000358823.2	+	5	993	c.723G>C	c.(721-723)ggG>ggC	p.G241G	CAMSAP2_ENST00000236925.4_Silent_p.G252G|CAMSAP2_ENST00000413307.2_Silent_p.G241G	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	252	CH.					cytoplasm|microtubule	protein binding										TGAAGGATGGGACAGATGGCT	0.388000													28	57					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140948327	140948327	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:140948327G>A	ENST00000277549.5	+	27	3994	c.1425G>A	c.(1423-1425)ctG>ctA	p.L475L	CACNA1B_ENST00000371363.1_Silent_p.L1279L|CACNA1B_ENST00000371355.4_Silent_p.L1280L|CACNA1B_ENST00000277551.2_Silent_p.L1279L|CACNA1B_ENST00000371357.1_Silent_p.L1280L|CACNA1B_ENST00000371372.1_Silent_p.L1279L			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1279					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAACTCCCTGAAGAATGTCC	0.512000													62	112					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7970583	7970583	+	Silent	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:7970583G>C	ENST00000543909.1	-	15	1947	c.1188C>G	c.(1186-1188)gtC>gtG	p.V396V	SLC2A14_ENST00000535295.1_Silent_p.V287V|SLC2A14_ENST00000340749.5_Silent_p.V373V|SLC2A14_ENST00000396589.2_Silent_p.V396V|SLC2A14_ENST00000542505.1_Silent_p.V37V|SLC2A14_ENST00000431042.2_Silent_p.V373V|SLC2A14_ENST00000542546.1_Silent_p.V287V|SLC2A14_ENST00000539924.1_Silent_p.V411V			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	396					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGGCCACAAAGACCAAGATAG	0.498000													8	9					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76464812	76464812	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:76464812C>T	ENST00000389840.5	-	55	8747	c.8623G>A	c.(8623-8625)Gag>Aag	p.E2875K	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E2884K					dynein, axonemal, heavy chain 17									p.E2884*(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTCCACCTCGTCCTCCATA	0.532000													16	51					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57057951	57057951	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:57057951G>A	ENST00000308249.2	+	7	1956	c.1827G>A	c.(1825-1827)gaG>gaA	p.E609E		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	618					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			TAATGATGGAGAAAAAATCAG	0.428000													27	91					0	0	1	0	0
GALNT16	57452	broad.mit.edu	37	14	69814713	69814713	+	Silent	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr14:69814713C>G	ENST00000337827.4	+	14	1860	c.1533C>G	c.(1531-1533)ggC>ggG	p.G511G	GALNT16_ENST00000448469.3_Silent_p.G511G|GALNT16_ENST00000553669.1_Silent_p.G511G	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		CTAGAGAAGGCAAGCAGGTGA	0.617000													12	11					0	0	1	0	0
WHAMM	123720	broad.mit.edu	37	15	83502061	83502061	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:83502061C>T	ENST00000286760.4	+	10	2302	c.2203C>T	c.(2203-2205)Ccc>Tcc	p.P735S		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	735						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						GGTGCGCCCTCCCCACGCCTC	0.542000													11	13					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144769802	144769802	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:144769802C>T	ENST00000367545.3	+	16	1969	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	657	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.R657C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAGACTGTTCGTGTAAGAGA	0.423000													27	57					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49830185	49830185	+	RNA	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:49830185G>A	ENST00000527477.1	+	0	1516																											ATCTAATTCTGAGGTAAGTCT	0.453000													8	17					0	0	1	0	0
POMZP3	22932	broad.mit.edu	37	7	76254879	76254879	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:76254879C>G	ENST00000310842.4	-	3	871	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.E63Q	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	63										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				ATTTGGTCTTCTTCCTCCACT	0.468000													62	144					0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223943244	223943244	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:223943244G>A	ENST00000295006.5	+	10	1507	c.1198G>A	c.(1198-1200)Gat>Aat	p.D400N	CAPN2_ENST00000433674.2_Missense_Mutation_p.D322N	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	400	Domain III.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		ggacgaggaggatggggagAG	0.607000													10	22					0	0	1	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652471	45652471	+	RNA	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:45652471G>C	ENST00000427229.2	+	0	1985																											GCCAGCAAAAGAAAGACCTAG	0.373000													4	21					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95618180	95618180	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:95618180G>C	ENST00000395505.2	-	2	132	c.40C>G	c.(40-42)Caa>Gaa	p.Q14E	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.Q14E|ZNF484_ENST00000395506.3_Missense_Mutation_p.Q52E|ZNF484_ENST00000375495.3_Missense_Mutation_p.Q50E	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTGGGAACTTGACATCCTGTT	0.453000													22	49					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10267137	10267137	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:10267137G>A	ENST00000340748.4	-	17	1516	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	DNMT1_ENST00000540357.1_Silent_p.I427I|DNMT1_ENST00000359526.4_Silent_p.I443I			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	427	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TATTCTTCTCGATGAGGCCGG	0.478000													20	71					0	0	1	0	0
RNF44	22838	broad.mit.edu	37	5	175958522	175958522	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:175958522G>A	ENST00000274811.4	-	4	931	c.407C>T	c.(406-408)cCa>cTa	p.P136L	RNF44_ENST00000537487.1_Missense_Mutation_p.P55L	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	136	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGCATGCTGGGAGCTGCTG	0.632000													4	8					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160084400	160084400	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:160084400G>A	ENST00000263635.6	+	25	4211	c.3974G>A	c.(3973-3975)gGa>gAa	p.G1325E	TANC1_ENST00000454300.1_Missense_Mutation_p.G1219E	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1325						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GAAGGATTCGGAGAGGACATG	0.423000													20	32					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122766698	122766698	+	Missense_Mutation	SNP	G	G	C	rs144483021		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:122766698G>C	ENST00000264499.4	-	11	1374	c.1191C>G	c.(1189-1191)atC>atG	p.I397M	BBS7_ENST00000506636.1_Missense_Mutation_p.I397M	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	397					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTACCTCTAAGATAAGGCTGT	0.323000									Bardet-Biedl syndrome				22	17					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612966	179612966	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:179612966G>C	ENST00000360870.5	-	46	14383	c.14161C>G	c.(14161-14163)Ctt>Gtt	p.L4721V	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	830	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGATTTAAGAGAAAGATCA	0.338000													20	50					0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119536047	119536047	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:119536047C>G	ENST00000393716.2	+	9	3132	c.1293C>G	c.(1291-1293)atC>atG	p.I431M	NR1I2_ENST00000337940.4_Missense_Mutation_p.I470M|NR1I2_ENST00000466380.1_Missense_Mutation_p.I394M	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	431	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	TGTTCGGCATCACAGGTAGCT	0.637000													14	25					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39951250	39951250	+	Silent	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:39951250G>C	ENST00000564288.1	+	101	23229	c.22452G>C	c.(22450-22452)ggG>ggC	p.G7484G	MACF1_ENST00000567887.1_Silent_p.G7521G|MACF1_ENST00000317713.7_Silent_p.G5359G|MACF1_ENST00000545844.1_Silent_p.G5359G|MACF1_ENST00000539005.1_Silent_p.G5229G|MACF1_ENST00000361689.2_Silent_p.G5359G|MACF1_ENST00000289893.4_Silent_p.G5867G|MACF1_ENST00000372915.3_Silent_p.G7317G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7317					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			gtcgggctgggagtcgagccg	0.532000													7	24					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090668	34090668	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:34090668G>C	ENST00000373381.4	-	34	5659	c.5483C>G	c.(5482-5484)tCa>tGa	p.S1828*	CSMD2_ENST00000373380.1_Nonsense_Mutation_p.S701*|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1788	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGTGGGCGCTGAGACATTCCA	0.652000													9	26					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113524	94113524	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:94113524C>G	ENST00000243673.2	-	4	1234	c.1063G>C	c.(1063-1065)Gag>Cag	p.E355Q	GPR83_ENST00000539203.2_Missense_Mutation_p.E313Q	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	355						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCTTTAGCTCAATCCTGAAG	0.527000													16	67					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150935594	150935594	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:150935594G>C	ENST00000271640.5	+	19	3626	c.3436G>C	c.(3436-3438)Gag>Cag	p.E1146Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.E1146Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1146	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGATGACTTTGAGGACAAGAA	0.463000													11	51					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26432424	26432424	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:26432424G>A	ENST00000265944.5	+	21	2476	c.2310G>A	c.(2308-2310)gaG>gaA	p.E770E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	770	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGAATATGAGGATAACTGGC	0.358000													24	33					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90491182	90491182	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:90491182C>G	ENST00000369393.3	-	10	1694	c.1579G>C	c.(1579-1581)Gaa>Caa	p.E527Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E527Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	527					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTGAAACTTCTTCAGGTGCC	0.403000													12	86					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622201	64622201	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:64622201C>T	ENST00000320631.3	-	5	1463	c.1209G>A	c.(1207-1209)ctG>ctA	p.L403L	EHD1_ENST00000359393.2_Silent_p.L403L|EHD1_ENST00000488711.1_5'UTR	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	403					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GGGAAGGCATCAGGGACTCCT	0.672000													56	82					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58191249	58191249	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:58191249C>T	ENST00000483681.1	-	5	850	c.269G>A	c.(268-270)aGc>aAc	p.S90N	DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.S90N|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.S90N			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	90					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		AAGCCGAGAGCTAATCACATA	0.383000													47	85					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35091878	35091878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:35091878C>T	ENST00000378617.3	-	7	2400	c.2006G>A	c.(2005-2007)tGg>tAg	p.W669*	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Nonsense_Mutation_p.W669*|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	669					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGCTCCATACCACAAATTCTT	0.592000													6	22					0	0	1	0	0
PRDX1	5052	broad.mit.edu	37	1	45981460	45981460	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:45981460G>C	ENST00000262746.1	-	3	465	c.126C>G	c.(124-126)ttC>ttG	p.F42L	PRDX1_ENST00000483583.1_5'UTR|PRDX1_ENST00000319248.8_Missense_Mutation_p.F42L|PRDX1_ENST00000372079.1_Intron	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	42	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GAGGGTAAAAGAAGAACACAA	0.408000													30	44					0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323667	44323667	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr21:44323667G>C	ENST00000354250.2	+	3	614	c.545G>C	c.(544-546)aGa>aCa	p.R182T	NDUFV3_ENST00000340344.4_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	11					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AGCAAAGGCAGAGGGGGGCTT	0.517000													31	72					0	0	1	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128628390	128628390	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:128628390C>T	ENST00000272647.5	-	5	891	c.631G>A	c.(631-633)Gag>Aag	p.E211K	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.E211K	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	211	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GTTCTCACCTCCCAGTCCAGG	0.498000													10	13					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53190812	53190812	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:53190812T>C	ENST00000566029.1	+	2	1020	c.811T>C	c.(811-813)Tct>Cct	p.S271P	CHD9_ENST00000564845.1_Missense_Mutation_p.S271P|CHD9_ENST00000447540.1_Missense_Mutation_p.S271P|CHD9_ENST00000398510.3_Missense_Mutation_p.S271P			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	271	Ser-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAGCAATTTTCTTCACATTA	0.363000													3	67					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114391172	114391172	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:114391172G>C	ENST00000359785.5	-	11	1040	c.905C>G	c.(904-906)tCt>tGt	p.S302C	PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000525799.1_Missense_Mutation_p.S175C|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.S302C|PTPN22_ENST00000538253.1_Missense_Mutation_p.S58C	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	302					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTGTTCCAGAATGTTTATC	0.333000													58	108					0	0	1	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161990	1161990	+	Silent	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:1161990G>C	ENST00000381894.3	-	2	944	c.273C>G	c.(271-273)gtC>gtG	p.V91V	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	91						integral to membrane	protein binding										GCAGTGAGGAGACACCCCCAG	0.612000													12	25					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853767	88853767	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:88853767C>T	ENST00000537554.1	-	2	4789	c.1227G>A	c.(1225-1227)cgG>cgA	p.R409R	CNR1_ENST00000535130.1_Silent_p.R409R|CNR1_ENST00000468898.1_Silent_p.R376R|CNR1_ENST00000369501.2_Silent_p.R409R|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.R409R|CNR1_ENST00000549890.1_Silent_p.R409R|CNR1_ENST00000369499.2_Silent_p.R409R|CNR1_ENST00000549716.1_Silent_p.R348R	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	409					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAAACATGCTCCGGAAAGCGT	0.547000													13	58					0	0	1	0	0
STAT5A	6776	broad.mit.edu	37	17	40456423	40456423	+	Silent	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:40456423C>G	ENST00000345506.4	+	11	1875	c.1233C>G	c.(1231-1233)acC>acG	p.T411T	STAT5A_ENST00000588868.1_Silent_p.T411T|STAT5A_ENST00000452307.2_Silent_p.T411T|STAT5A_ENST00000546010.2_Silent_p.T381T|STAT5A_ENST00000590949.1_Silent_p.T411T	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	411					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCACGGGCACCCTCAGTGCCC	0.627000													15	58					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													6	79					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211177	78211177	+	RNA	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:78211177C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GAGCACGAGCCTCTCCTCCTG	0.592000													12	74					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47765546	47765546	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:47765546G>A	ENST00000263773.5	-	8	1427	c.1415C>T	c.(1414-1416)tCt>tTt	p.S472F	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	472										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGTTTTACTAGAACTCCTACT	0.408000													41	55					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47193890	47193890	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:47193890C>G	ENST00000433867.1	-	14	2253	c.1776G>C	c.(1774-1776)gaG>gaC	p.E592D	PRKD2_ENST00000291281.4_Missense_Mutation_p.E592D|PRKD2_ENST00000595515.1_Missense_Mutation_p.E592D|PRKD2_ENST00000600194.1_Missense_Mutation_p.E435D|PRKD2_ENST00000601806.1_Missense_Mutation_p.E435D	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	592	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.E592D(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGAGCTGGCTCTCCTGCTTGG	0.572000													55	77					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182392022	182392022	+	Splice_Site	SNP	A	A	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:182392022A>T	ENST00000397033.2	+	22	2769		c.e22-1			NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)						blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTTTTTACCAGGTTTGTAAA	0.313000													11	35					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64064417	64064417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:64064417C>T	ENST00000538767.1	+	2	310	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	KCNK4_ENST00000422670.2_Missense_Mutation_p.S86L|KCNK4_ENST00000539216.1_Missense_Mutation_p.S86L|KCNK4_ENST00000394525.2_Missense_Mutation_p.S86L|KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	278						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						AGCAGCCACTCAGCCTGGGAC	0.627000													7	36					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630161	32630161	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:32630161C>G	ENST00000242310.4	-	1	5506	c.5417G>C	c.(5416-5418)aGa>aCa	p.R1806T		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1806					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGTTTGGGTCTTATTCCACC	0.493000													13	41					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89857925	89857925	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:89857925C>G	ENST00000310775.7	+	36	3889	c.3803C>G	c.(3802-3804)tCt>tGt	p.S1268C	FANCI_ENST00000566615.1_3'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.S1208C	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1268					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATCCACCTTTCTAAGAAGTCC	0.413000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	27					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8943130	8943130	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:8943130G>C	ENST00000256707.3	-	8	912	c.731C>G	c.(730-732)tCa>tGa	p.S244*	KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.S244*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.S202*|KIDINS220_ENST00000319688.5_Nonsense_Mutation_p.S245*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.S244*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	244					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.S244L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCCCTCCTTTGATGCAATCAT	0.398000													16	27					0	0	1	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16502464	16502464	+	Silent	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:16502464G>C	ENST00000396652.1	-	5	1114	c.402C>G	c.(400-402)ctC>ctG	p.L134L	SOSTDC1_ENST00000307068.4_Silent_p.L110L			Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	110	CTCK.				Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TCCAGTTAGGGAGCACTGGCA	0.562000													17	32					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152818580	152818580	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chrX:152818580G>A	ENST00000370186.1	+	11	2195	c.1869G>A	c.(1867-1869)ccG>ccA	p.P623P	ATP2B3_ENST00000370181.2_Silent_p.P623P|ATP2B3_ENST00000263519.4_Silent_p.P637P|ATP2B3_ENST00000393842.1_Silent_p.P623P|ATP2B3_ENST00000359149.3_Silent_p.P637P|ATP2B3_ENST00000349466.2_Silent_p.P637P			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	637					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATCGAGCCGATGGCTTGCG	0.622000													19	6					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169474535	169474535	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:169474535G>A	ENST00000256935.8	+	40	4068	c.3988G>A	c.(3988-3990)Gaa>Aaa	p.E1330K	DOCK2_ENST00000520908.1_Missense_Mutation_p.E822K|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.E391K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1330	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAATTCTATGAAAGCATCAT	0.468000													15	43					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631017	32631017	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:32631017C>T	ENST00000242310.4	-	1	4650	c.4561G>A	c.(4561-4563)Gat>Aat	p.D1521N		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1521					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTTGGTCATCATCATCCAGC	0.403000													39	80					0	0	1	0	0
HACL1	26061	broad.mit.edu	37	3	15621527	15621527	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:15621527C>G	ENST00000321169.5	-	9	1060	c.693G>C	c.(691-693)gaG>gaC	p.E231D	HACL1_ENST00000451445.2_Missense_Mutation_p.E149D|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.E205D|HACL1_ENST00000456194.2_Missense_Mutation_p.E204D	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	231					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TCTTGATACTCTCTTCTGCAT	0.428000													26	37					0	0	1	0	0
LCLAT1	253558	broad.mit.edu	37	2	30863230	30863230	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:30863230G>C	ENST00000309052.4	+	7	1199	c.990G>C	c.(988-990)caG>caC	p.Q330H	LCLAT1_ENST00000379509.3_Missense_Mutation_p.Q292H|LCLAT1_ENST00000540623.1_Missense_Mutation_p.Q292H|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	330					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TTACCGGACAGAGTGTCATTC	0.478000													23	63					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41349849	41349849	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:41349849C>T	ENST00000301141.5	-	9	1357	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	446					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GAGCTCCATTCTGGCCAGGCC	0.592000													8	46					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109505358	109505358	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:109505358G>A	ENST00000257548.5	+	4	499	c.406G>A	c.(406-408)Gag>Aag	p.E136K	USP30_ENST00000392784.2_Missense_Mutation_p.E105K	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	136					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TACTGATGATGAGGTCTTAGA	0.373000													22	27					0	0	1	0	0
MFAP3	4238	broad.mit.edu	37	5	153432625	153432625	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:153432625G>C	ENST00000436816.1	+	3	660	c.441G>C	c.(439-441)atG>atC	p.M147I	MFAP3_ENST00000439768.2_Start_Codon_SNP_p.M1I|MFAP3_ENST00000322602.5_Missense_Mutation_p.M147I	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	147						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CGGGAGACATGAGTGTCTATT	0.473000													31	56					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49052720	49052720	+	Nonstop_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:49052720G>C	ENST00000395474.3	+	6	3735	c.3455G>C	c.(3454-3456)tGa>tCa	p.*1152S	WDR6_ENST00000448293.1_Nonstop_Mutation_p.*1071S|WDR6_ENST00000415265.2_Nonstop_Mutation_p.*570S|WDR6_ENST00000608424.1_Nonstop_Mutation_p.*1122S	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	0					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGGTATGACTGAGGTATCCTG	0.612000													18	46					0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67563733	67563733	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:67563733C>T	ENST00000310421.4	-	2	3015	c.2757G>A	c.(2755-2757)caG>caA	p.Q919Q		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	919					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CACCACCCTGCTGAAACATGT	0.333000													10	38					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201687851	201687851	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:201687851G>C	ENST00000367296.4	+	3	1614	c.1194G>C	c.(1192-1194)aaG>aaC	p.K398N	NAV1_ENST00000367302.1_Missense_Mutation_p.K411N|NAV1_ENST00000367300.3_Missense_Mutation_p.K398N|NAV1_ENST00000367297.4_Missense_Mutation_p.K398N|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.K398N	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	398					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCATGGGCAAGACCATGACGG	0.587000													25	70					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113516208	113516208	+	Splice_Site	SNP	T	T	A	rs111461827		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:113516208T>A	ENST00000297405.5	-	30	5140		c.e30-2		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATGCTAAAACTgaaaaaaaaa	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	27					0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84610102	84610102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:84610102C>T	ENST00000370685.3	+	1	149	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	PRKACB_ENST00000370689.2_Intron|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370688.3_Intron	NM_001242862.1|NM_182948.2	NP_001229791.1|NP_891993.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	0					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TACAGCTCTTCAGAAATTGGA	0.388000													32	70					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15649677	15649677	+	Splice_Site	SNP	C	C	G	rs117792487	by1000genomes	TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:15649677C>G	ENST00000378076.3	-	17	2116	c.1763G>C	c.(1762-1764)cGa>cCa	p.R588P		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	588					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.R588L(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AATACTTACTCGAAGGTAAAC	0.453000													63	113					0	0	1	0	0
PAPSS2	9060	broad.mit.edu	37	10	89501061	89501061	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:89501061G>A	ENST00000361175.4	+	9	1510	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	PAPSS2_ENST00000456849.1_Missense_Mutation_p.D386N|PAPSS2_ENST00000427144.2_Missense_Mutation_p.D385N	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	381					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AAGATGGAATGATGGGCTGGA	0.408000													24	36					0	0	1	0	0
MSL1	339287	broad.mit.edu	37	17	38289346	38289346	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:38289346G>A	ENST00000398532.4	+	6	1855	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	MSL1_ENST00000578648.1_Missense_Mutation_p.E498K|MSL1_ENST00000579565.1_Missense_Mutation_p.E251K	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)						histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GGAGCTGGATGAGAAGAGAAG	0.453000													4	8					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940642	22940642	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:22940642G>C	ENST00000397104.3	-	5	1795	c.1796C>G	c.(1795-1797)tCa>tGa	p.S599*	ZNF99_ENST00000596209.1_Nonsense_Mutation_p.S690*					zinc finger protein 99									p.S599L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCTAAGGGCTGAGAAATGGTT	0.373000													45	76					0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162774060	162774060	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:162774060C>T	ENST00000367917.3	+	6	714	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.R251C			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	251					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCCGCAGCTTCGCTTTTTTGC	0.323000													10	52					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570224	61570224	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:61570224G>T	ENST00000457692.1	+	9	1266	c.933G>T	c.(931-933)caG>caT	p.Q311H	SERPINB2_ENST00000299502.4_Missense_Mutation_p.Q311H	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	311					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ACATACCCCAGTTCAAATTAG	0.448000													11	25					0.00829132	0.00842132	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130292879	130292879	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:130292879G>A	ENST00000358511.6	+	7	3088	c.3057G>A	c.(3055-3057)atG>atA	p.M1019I	COL6A6_ENST00000453409.2_Missense_Mutation_p.M1019I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1019	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAAGAAAATGAAGGAATTTC	0.413000													6	26					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14751227	14751227	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:14751227T>C	ENST00000284268.6	-	5	968	c.638A>G	c.(637-639)tAc>tGc	p.Y213C	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Missense_Mutation_p.Y15C	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	213					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AATGTTCTTGTAGTAGCCCAG	0.562000													9	29					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44938243	44938243	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:44938243G>A	ENST00000296125.4	+	6	660	c.592G>A	c.(592-594)Gag>Aag	p.E198K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	198					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCTGCTGACTGAGAGCTCCCT	0.498000													24	35					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142103421	142103421	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:142103421G>A	ENST00000264951.4	-	21	2563	c.2446C>T	c.(2446-2448)Cta>Tta	p.L816L	XRN1_ENST00000392981.2_Silent_p.L816L	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	816					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGTTTCTCTAGACGAACTTCA	0.308000													36	65					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123205004	123205004	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chrX:123205004C>T	ENST00000371160.1	+	25	2654	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	STAG2_ENST00000371145.3_Silent_p.F788F|STAG2_ENST00000354548.5_Silent_p.F719F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Silent_p.F788F|STAG2_ENST00000218089.9_Silent_p.F788F|STAG2_ENST00000371144.3_Silent_p.F788F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	788					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATAGGCCTTCACTATTCTGT	0.353000													35	19					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221395	5221395	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:5221395T>C	ENST00000321255.1	-	1	535	c.536A>G	c.(535-537)cAt>cGt	p.H179R		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGTGGAAATGACAGTAATT	0.393000													5	42					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91292680	91292680	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:91292680G>A	ENST00000355112.3	+	3	300	c.182G>A	c.(181-183)aGa>aAa	p.R61K	BLM_ENST00000560509.1_Missense_Mutation_p.R61K	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	61					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CCTGTATTAAGAAATAAAGAT	0.333000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				20	37					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765126	61765126	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:61765126G>A	ENST00000423902.2	+	30	6443	c.5964G>A	c.(5962-5964)gtG>gtA	p.V1988V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1988					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTGACCCTGTGAAACAGCAAT	0.398000													9	16					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569444	76569444	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:76569444G>A	ENST00000307431.8	+	19	3140	c.2755G>A	c.(2755-2757)Gga>Aga	p.G919R	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G871R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G847R|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G923R|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	920	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCTTTTAGGTGGAACGGCCAC	0.468000													22	13					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229316	21229316	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:21229316C>G	ENST00000233242.1	-	26	10551	c.10424G>C	c.(10423-10425)gGa>gCa	p.G3475A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3475	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTCAACTGCTCCTTTAGCGGT	0.413000													30	58					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368944	158368944	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:158368944A>G	ENST00000334438.1	-	1	312	c.313T>C	c.(313-315)Ttc>Ctc	p.F105L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAGCCAAGGAAAAAGAACAGC	0.498000													23	35					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214178607	214178607	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:214178607G>C	ENST00000366958.4	+	3	2433	c.1825G>C	c.(1825-1827)Gac>Cac	p.D609H	PROX1_ENST00000435016.1_Missense_Mutation_p.D609H|PROX1_ENST00000498508.2_Missense_Mutation_p.D609H|PROX1_ENST00000261454.4_Missense_Mutation_p.D609H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	609					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTACTTCTCCGACGTAAAGGT	0.378000													10	46					0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163003994	163003994	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:163003994G>A	ENST00000418842.2	-	3	377	c.123C>T	c.(121-123)ctC>ctT	p.L41L	GCG_ENST00000375497.3_Silent_p.L41L	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	41					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	CAGGATCACTGAGTGGGTCTG	0.478000													39	103					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96233438	96233438	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:96233438G>T	ENST00000277165.6	+	2	684	c.490G>T	c.(490-492)Gag>Tag	p.E164*	FAM120A_ENST00000333936.5_Nonsense_Mutation_p.E164*|FAM120A_ENST00000375389.3_Nonsense_Mutation_p.E164*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.E164*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	164						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAGAGCATTGAGGATCACCA	0.438000													17	42					1.02788e-11	1.11179e-11	1	1	0
SPATA25	128497	broad.mit.edu	37	20	44515156	44515156	+	Nonstop_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:44515156C>G	ENST00000372519.3	-	2	728	c.684G>C	c.(682-684)taG>taC	p.*228Y		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	0						integral to membrane											TTTCATCCATCTACAAGCAGG	0.582000													47	92					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5500809	5500809	+	Nonstop_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:5500809G>C	ENST00000282908.5	+	12	1666	c.1244G>C	c.(1243-1245)tGa>tCa	p.*415S	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Nonstop_Mutation_p.*368S|STK32B_ENST00000512636.1_Nonstop_Mutation_p.*338S	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	0							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TGCAGCAGCTGAGCCCACACT	0.632000													7	4					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61151687	61151687	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:61151687C>T	ENST00000382771.4	+	2	318	c.26C>T	c.(25-27)tCg>tTg	p.S9L	SERPINB5_ENST00000489441.1_Missense_Mutation_p.S9L	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	9					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						CTAGCAAATTCGGCTTTTGCC	0.478000													11	18					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16902937	16902937	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:16902937C>T	ENST00000430580.2	-	19	2831	c.1944G>A	c.(1942-1944)ctG>ctA	p.L648L	NBPF1_ENST00000287968.8_Silent_p.L13L|NBPF1_ENST00000432949.1_Silent_p.L106L	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	648						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTAACTGGGTCAGCTCTCGTT	0.498000													18	425					0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44950727	44950727	+	Nonstop_Mutation	SNP	T	T	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:44950727T>C	ENST00000340160.3	+	9	984	c.745T>C	c.(745-747)Tag>Cag	p.*249Q	TSPAN18_ENST00000520358.2_Nonstop_Mutation_p.*249Q	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	0						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						GGGCATCCAGTAGAGGGTATG	0.602000													13	28					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687002	21687002	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:21687002C>T	ENST00000444366.2	+	1	142	c.141C>T	c.(139-141)tcC>tcT	p.S47S	PAX1_ENST00000398485.2_Intron|PAX1_ENST00000460221.1_Intron			P15863	PAX1_HUMAN	paired box 1	73					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TCCCTCGCTCCGCGTGGGGAC	0.652000													5	17					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21427517	21427517	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:21427517G>C	ENST00000313654.9	+	32	4262	c.4021G>C	c.(4021-4023)Gag>Cag	p.E1341Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.E1341Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1341	Domain III B.|Laminin EGF-like 10.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGGTGTGTGAGACACACTC	0.662000													24	25					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99308369	99308369	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:99308369C>G	ENST00000336374.2	-	10	1014	c.1012G>C	c.(1012-1014)Gtt>Ctt	p.V338L		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	338					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TTGGGTAAAACTGTATCAATT	0.453000													3	37					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41381746	41381746	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:41381746C>T	ENST00000301146.4	-	9	1878	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R395K	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	446						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGCTCCATTCTGGCCAGGCC	0.587000													4	30					0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5783431	5783431	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:5783431C>A	ENST00000419421.2	-	3	931	c.827G>T	c.(826-828)aGa>aTa	p.R276I		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	274										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						TGCCAAAGCTCTGGCCGTCTT	0.667000													11	25					0.00829132	0.00842132	1	1	0
SYNGR2	9144	broad.mit.edu	37	17	76167988	76167988	+	Missense_Mutation	SNP	G	G	A	rs9889851		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:76167988G>A	ENST00000225777.3	+	4	705	c.646G>A	c.(646-648)Gag>Aag	p.E216K	SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000590201.1_Missense_Mutation_p.E160K|SYNGR2_ENST00000585591.1_Missense_Mutation_p.E216K|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000588282.1_Silent_p.P245P			O43760	SNG2_HUMAN	synaptogyrin 2	216						integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GGAGACCACCGAGGGCTACCA	0.647000													24	62					0	0	1	0	0
LACE1	246269	broad.mit.edu	37	6	108616389	108616389	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:108616389C>G	ENST00000368977.4	+	1	292	c.106C>G	c.(106-108)Ctg>Gtg	p.L36V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	36							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TCTCGCTCCTCTGGCCACCGC	0.637000													19	22					0	0	1	0	0
LOC102723335	102723335	broad.mit.edu	37	15	101098935	101098935	+	RNA	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:101098935G>A	ENST00000559349.1	+	0	54				RP11-526I2.1_ENST00000557839.1_RNA																							ACTTGAGGGCGAAGAAATGCT	0.617000													8	15					0	0	1	0	0
RXFP4	339403	broad.mit.edu	37	1	155912157	155912157	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:155912157C>T	ENST00000368318.3	+	1	678	c.657C>T	c.(655-657)gtC>gtT	p.V219V		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	219						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTTGGGCGTCATCACCACCA	0.677000													18	46					0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55471167	55471167	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:55471167C>G	ENST00000394600.3	-	12	2045	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	MTIF2_ENST00000263629.4_Missense_Mutation_p.E437Q|MTIF2_ENST00000403721.1_Missense_Mutation_p.E437Q	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	437					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TGATACACCTCAGATTCTACT	0.338000													8	13					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128338348	128338348	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:128338348C>G	ENST00000389524.4	+	10	1084	c.1031C>G	c.(1030-1032)tCa>tGa	p.S344*	MYO7B_ENST00000428314.1_Nonsense_Mutation_p.S344*|MYO7B_ENST00000409816.2_Nonsense_Mutation_p.S344*			Q6PIF6	MYO7B_HUMAN	myosin VIIB	344	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTGGACGCCTCAGACGTGATG	0.607000													8	4					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211256200	211256200	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:211256200G>T	ENST00000367007.4	-	5	649	c.480C>A	c.(478-480)agC>agA	p.S160R	KCNH1_ENST00000271751.4_Missense_Mutation_p.S160R	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	160					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CACCCCTGCTGCTTGTCAGTG	0.557000													23	38					1.10923e-09	1.18223e-09	1	1	0
SRCIN1	80725	broad.mit.edu	37	17	36714485	36714485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:36714485C>A	ENST00000264659.7	-	11	2403	c.2179G>T	c.(2179-2181)Gag>Tag	p.E727*	SRCIN1_ENST00000578925.1_Nonsense_Mutation_p.E761*|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	599					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GTAATAAGCTCCTCGTCGTTG	0.701000											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	92					4.72057e-08	4.95873e-08	1	1	0
LSP1	4046	broad.mit.edu	37	11	1908788	1908788	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:1908788C>T	ENST00000406638.2	+	10	2131	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	LSP1_ENST00000405957.2_Missense_Mutation_p.P277S|LSP1_ENST00000311604.3_Missense_Mutation_p.P339S|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.P467S	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	339					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGGCCCGGCTCCCTAGGCGTC	0.592000													3	12					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690711	33690711	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:33690711C>T	ENST00000394566.1	-	4	388	c.116G>A	c.(115-117)aGa>aAa	p.R39K	SLFN11_ENST00000308377.4_Missense_Mutation_p.R39K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	39						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTTGGTCTCTCTGAATTTT	0.478000													34	86					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454331	84454331	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr13:84454331G>C	ENST00000377084.2	-	1	2197	c.1312C>G	c.(1312-1314)Ctg>Gtg	p.L438V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	438						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCCCGGGACAGCGTGTCCAGG	0.507000													30	64					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596489	97596489	+	Missense_Mutation	SNP	G	G	A	rs143958468	by1000genomes	TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:97596489G>A	ENST00000182096.4	+	1	671	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGAGGAAGAAGAGGAGGAGGA	0.463000													5	36					0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19675894	19675894	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:19675894G>C	ENST00000251203.9	-	6	1059	c.773C>G	c.(772-774)tCt>tGt	p.S258C		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4								sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						AAACCAGTTAGAGACCTGCGG	0.532000													106	187					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975953	42975953	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:42975953C>T	ENST00000485511.1	+	8	1051	c.872C>T	c.(871-873)aCg>aTg	p.T291M	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.T283M|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.T185M|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.T259M	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	291					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATCTACGAGACGGAGCATCAC	0.577000													36	60					0	0	1	0	0
ALG11	440138	broad.mit.edu	37	13	52598503	52598503	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr13:52598503C>G	ENST00000521508.1	+	3	642	c.637C>G	c.(637-639)Caa>Gaa	p.Q213E	ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		AGTGAAGAATCAAAATATTGG	0.358000													55	125					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85553914	85553914	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:85553914G>C	ENST00000377386.3	-	2	1403	c.941C>G	c.(940-942)tCt>tGt	p.S314C	TGOLN2_ENST00000398263.2_Missense_Mutation_p.S256C|TGOLN2_ENST00000409232.3_Missense_Mutation_p.S314C|TGOLN2_ENST00000444342.2_Missense_Mutation_p.S314C|TGOLN2_ENST00000282120.2_Missense_Mutation_p.S158C|TGOLN2_ENST00000409015.1_Missense_Mutation_p.S314C			O43493	TGON2_HUMAN	trans-golgi network protein 2	314						integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										AGGCTCTGAAGACTTAACTTC	0.507000													15	19					0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	989795	989795	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:989795C>G	ENST00000251289.5	+	3	378	c.355C>G	c.(355-357)Cga>Gga	p.R119G	WDR18_ENST00000587001.2_Missense_Mutation_p.R119G|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	119										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCCTGAGTCGACACTACCA	0.622000													35	51					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119943057	119943057	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:119943057G>C	ENST00000327554.2	+	7	1297	c.832G>C	c.(832-834)Gag>Cag	p.E278Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	278										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAAGGACATTGAGGACAATGA	0.522000													5	93					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161853	239161853	+	Silent	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:239161853G>C	ENST00000254657.3	-	19	3090	c.2811C>G	c.(2809-2811)ctC>ctG	p.L937L	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	937	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCTCGGATGTGAGTGTGGGGT	0.632000													7	32					0	0	1	0	0
HIST1H4L	8368	broad.mit.edu	37	6	27841097	27841097	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:27841097C>G	ENST00000355981.2	-	1	192	c.192G>C	c.(190-192)gaG>gaC	p.E64D		NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	64			E -> Q (in a breast cancer sample; somatic mutation).		CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						GGATTACATTCTCCAAAAACA	0.582000													12	47					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	175956094	175956094	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:175956094C>T	ENST00000367669.3	-	18	2632	c.2118G>A	c.(2116-2118)agG>agA	p.R706R	RFWD2_ENST00000308769.8_Silent_p.R682R	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	706					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTGGTAGTGCCCTCCAGCACA	0.338000													16	62					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808762	8808762	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:8808762A>G	ENST00000324436.3	-	1	410	c.290T>C	c.(289-291)tTc>tCc	p.F97S		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	97						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CTCGCCGATGAACGTCTGCAG	0.697000													9	21					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68260950	68260950	+	Missense_Mutation	SNP	C	C	T	rs142041405		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr14:68260950C>T	ENST00000347230.4	-	13	2477	c.2339G>A	c.(2338-2340)cGa>cAa	p.R780Q	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R780Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	780					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ACCTCTGTCTCGGCCATCTAC	0.458000													38	27					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185797613	185797613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:185797613C>A	ENST00000306376.5	-	7	889	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Nonsense_Mutation_p.E215*|ETV5_ENST00000537818.1_Nonsense_Mutation_p.E257*	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	215					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CACCTCTGTTCTGATGGATAC	0.517000			T	"""TMPRSS2, SCL45A3"""	Prostate								25	47					1.37878e-21	1.51953e-21	1	1	0
NPIPB15	440348	broad.mit.edu	37	16	74425572	74425572	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:74425572C>G	ENST00000429990.1	+	7	1022	c.926C>G	c.(925-927)tCt>tGt	p.S309C						nuclear pore complex interacting protein family, member B15																		CTTCCACCCTCTCCTCTTCCA	0.498000													16	96					0	0	1	0	0
COIL	8161	broad.mit.edu	37	17	55023818	55023818	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:55023818G>C	ENST00000240316.4	-	5	1577	c.1543C>G	c.(1543-1545)Ctt>Gtt	p.L515V		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	515	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					AAGGATGAAAGAATTTCTATA	0.328000													57	161					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106601	27106601	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:27106601T>C	ENST00000324856.7	+	20	6583	c.6212T>C	c.(6211-6213)tTg>tCg	p.L2071S	ARID1A_ENST00000540690.1_Missense_Mutation_p.L399S|ARID1A_ENST00000374152.2_Missense_Mutation_p.L1688S|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1854S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2071					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCGGGGCAGTTGGACCTATCT	0.577000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								23	49					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100105799	100105799	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:100105799G>C	ENST00000375202.2	+	33	3936	c.2584G>C	c.(2584-2586)Gaa>Caa	p.E862Q	CCDC180_ENST00000411667.2_Missense_Mutation_p.E859Q|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.E1001Q|CCDC180_ENST00000529487.1_Missense_Mutation_p.E862Q					coiled-coil domain containing 180																		CAAGTTCATAGAACAAGTGAC	0.368000													18	24					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25924984	25924984	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:25924984C>T	ENST00000356865.6	-	21	4115	c.4004G>A	c.(4003-4005)gGa>gAa	p.G1335E		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1335					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTGCTCGGTTCCCGAGTCCTT	0.617000													19	52					0	0	1	0	0
SMNDC1	10285	broad.mit.edu	37	10	112053929	112053929	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:112053929G>A	ENST00000369603.5	-	6	899	c.696C>T	c.(694-696)gtC>gtT	p.V232V	SMNDC1_ENST00000369592.1_Silent_p.V232V	NM_005871.3	NP_005862.1	O75940	SPF30_HUMAN	survival motor neuron domain containing 1						apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	4		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		TCAAATGCCTGACATTGTATT	0.353000													19	52					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70013454	70013454	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:70013454G>A	ENST00000355303.5	+	21	2463	c.2158G>A	c.(2158-2160)Gag>Aag	p.E720K	ANO1_ENST00000531349.1_Missense_Mutation_p.E429K|ANO1_ENST00000538023.1_Missense_Mutation_p.E720K|ANO1_ENST00000530676.1_Missense_Mutation_p.E574K|ANO1_ENST00000398543.2_Missense_Mutation_p.E574K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	720					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TTACAACCTGGAGCCCTTCGC	0.582000													10	17					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234553925	234553925	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:234553925G>C	ENST00000040877.1	-	22	3609	c.3610C>G	c.(3610-3612)Caa>Gaa	p.Q1204E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1204					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ATGGATGCTTGATTGTTGGTG	0.289000													8	32					0	0	1	0	0
SOWAHA	134548	broad.mit.edu	37	5	132149838	132149838	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:132149838G>A	ENST00000378693.2	+	1	806	c.525G>A	c.(523-525)gaG>gaA	p.E175E		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	175	Pro-rich.																AGGCCACCGAGAGACCCTCCG	0.771000													4	7					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30522590	30522590	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:30522590C>G	ENST00000375938.4	+	12	1156	c.903C>G	c.(901-903)atC>atG	p.I301M	TTLL9_ENST00000310998.4_Missense_Mutation_p.I266M|TTLL9_ENST00000375922.4_Missense_Mutation_p.I243M|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000375934.4_Missense_Mutation_p.S269C|TTLL9_ENST00000535842.1_Missense_Mutation_p.I301M			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	301	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCGACAACATCTTTGTCAAAA	0.572000													29	66					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17416003	17416003	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:17416003G>T	ENST00000253692.7	-	12	2446	c.782C>A	c.(781-783)gCt>gAt	p.A261D	TBC1D5_ENST00000446818.2_Missense_Mutation_p.A261D|TBC1D5_ENST00000429924.2_Missense_Mutation_p.A213D|TBC1D5_ENST00000429383.4_Missense_Mutation_p.A261D|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	261	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CCAAGGTTCAGCAGTTTCCAT	0.294000													4	14					0.000602214	0.000615949	1	1	0
LRRC30	339291	broad.mit.edu	37	18	7231445	7231445	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:7231445G>A	ENST00000383467.2	+	1	323	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	103										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTGTGCGGGAACCGCCTGA	0.587000													11	25					0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4361642	4361642	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:4361642G>A	ENST00000269886.3	-	10	1240	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	SH3GL1_ENST00000417295.2_Silent_p.F306F|SH3GL1_ENST00000598564.1_Silent_p.F290F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	354	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TGAGCGGGAAGAAGCCCGACT	0.672000			T	MLL	AL								21	18					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100695085	100695085	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:100695085G>A	ENST00000306151.4	+	9	13009	c.12945G>A	c.(12943-12945)gaG>gaA	p.E4315E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4315						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCCACCAGAGGACTGCCGGA	0.622000													17	27					0	0	1	0	0
PRDX1	5052	broad.mit.edu	37	1	45980611	45980611	+	Nonsense_Mutation	SNP	G	G	C	rs11544930		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:45980611G>C	ENST00000262746.1	-	4	656	c.317C>G	c.(316-318)tCa>tGa	p.S106*	PRDX1_ENST00000319248.8_Nonsense_Mutation_p.S106*|PRDX1_ENST00000372079.1_Intron	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	106	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					CTTCGGGTCTGATACCAAAGG	0.453000													45	70					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56819323	56819323	+	Silent	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:56819323G>C	ENST00000370754.5	-	1	62	c.63C>G	c.(61-63)ctC>ctG	p.L21L				Q03001	DYST_HUMAN	dystonin	0					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAAGCAACAAGAGGAAGAGGG	0.617000													4	22					0	0	1	0	0
RMDN3	55177	broad.mit.edu	37	15	41044248	41044248	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:41044248G>A	ENST00000260385.6	-	2	1383	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.R106W					regulator of microtubule dynamics 3																		TCCACCTCCCGCCGCAGCGCC	0.632000													18	35					0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44328274	44328274	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:44328274C>G	ENST00000288390.2	+	3	726	c.379C>G	c.(379-381)Cct>Gct	p.P127A	SPATS1_ENST00000323108.8_Missense_Mutation_p.P127A|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	127										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGATAAATATCCTGAGGAATT	0.473000													32	41					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2742833	2742833	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:2742833C>T	ENST00000406454.3	+	30	3867	c.3867C>T	c.(3865-3867)ctC>ctT	p.L1289L	CACNA1C_ENST00000399644.1_Silent_p.L1289L|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399629.1_Silent_p.L1289L|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399603.1_Silent_p.L1289L|CACNA1C_ENST00000399638.1_Silent_p.L1289L|CACNA1C_ENST00000402845.3_Silent_p.L1289L|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399617.1_Silent_p.L1289L|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399597.1_Silent_p.L1289L|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000347598.4_Silent_p.L1309L			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1309					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTGACTTCCTCATCGTAATTG	0.453000													17	28					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67766749	67766749	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:67766749G>C	ENST00000227471.2	-	5	660	c.581C>G	c.(580-582)tCc>tGc	p.S194C	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	194					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											CTTGTAGTGGGAGTACTCATG	0.612000													3	24					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40265864	40265864	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:40265864G>A	ENST00000263791.5	+	11	1775	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E578K|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E578K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	578					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTTCTTTAGTGAGACACAGAG	0.428000													40	69					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32257940	32257940	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:32257940G>A	ENST00000360482.2	-	15	2967	c.2838C>T	c.(2836-2838)ctC>ctT	p.L946L	SPOCD1_ENST00000257100.3_Silent_p.L439L|SPOCD1_ENST00000533231.1_Silent_p.L946L|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	946	SPOC.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGTATGAGTAGAGCAGGCGGC	0.652000													6	10					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750515	79750515	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:79750515G>C	ENST00000305428.3	+	2	2101	c.2026G>C	c.(2026-2028)Gag>Cag	p.E676Q		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	676						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACCCAAACTAGAGAACAACCC	0.557000													46	78					0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31907022	31907022	+	Silent	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:31907022C>G	ENST00000373710.1	+	11	1644	c.1371C>G	c.(1369-1371)ctC>ctG	p.L457L	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000373709.3_Silent_p.L448L|SERINC2_ENST00000536384.1_Silent_p.L452L|SERINC2_ENST00000536859.1_Silent_p.L452L	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	449						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CCCCACTCCTCCTGCGCAACC	0.657000													32	74					0	0	1	0	0
LMNB1	4001	broad.mit.edu	37	5	126158476	126158476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:126158476C>T	ENST00000261366.5	+	8	1751	c.1390C>T	c.(1390-1392)Caa>Taa	p.Q464*	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	464	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		TGTGTAGGATCAACCAATGGG	0.393000													7	12					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61835099	61835099	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:61835099C>T	ENST00000370339.3	-	4	534	c.193G>A	c.(193-195)Gga>Aga	p.G65R	YTHDF1_ENST00000370333.4_Missense_Mutation_p.G15R|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	65										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TAAGGAAATCCAATGGACGGC	0.522000													13	26					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95500947	95500947	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:95500947G>T	ENST00000297591.5	-	24	5501	c.5426C>A	c.(5425-5427)tCc>tAc	p.S1809Y	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1809					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCGTGTAAAGGAGCGTACATG	0.438000													27	46					1.17739e-12	1.27825e-12	1	1	0
DALRD3	55152	broad.mit.edu	37	3	49053607	49053607	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:49053607G>A	ENST00000440857.1	-	10	1514	c.812C>T	c.(811-813)tCa>tTa	p.S271L	DALRD3_ENST00000441576.2_Missense_Mutation_p.S438L|DALRD3_ENST00000313778.5_Missense_Mutation_p.S271L|DALRD3_ENST00000395462.4_Missense_Mutation_p.S271L|DALRD3_ENST00000341949.4_Missense_Mutation_p.S438L			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	438					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGTAGCAGTGAGAAGTCCAG	0.522000													21	39					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510440	48510440	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:48510440C>G	ENST00000446524.1	+	1	172	c.96C>G	c.(94-96)ttC>ttG	p.F32L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCTTGCTCTTCTACATTTTGA	0.438000													5	33					0	0	1	0	0
DCAKD	79877	broad.mit.edu	37	17	43101865	43101865	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:43101865G>T	ENST00000452796.2	-	4	887	c.632C>A	c.(631-633)aCa>aAa	p.T211K	DCAKD_ENST00000342350.5_Missense_Mutation_p.T211K|DCAKD_ENST00000588499.1_Missense_Mutation_p.T211K			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	211					coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				AGCGAGCCCTGTGAGGACCCC	0.627000													11	35					1.58986e-06	1.65516e-06	1	1	0
STAU1	6780	broad.mit.edu	37	20	47770530	47770530	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:47770530G>C	ENST00000371828.3	-	4	528	c.41C>G	c.(40-42)cCt>cGt	p.P14R	STAU1_ENST00000371802.1_Missense_Mutation_p.P14R|STAU1_ENST00000347458.5_Missense_Mutation_p.P14R|STAU1_ENST00000360426.4_Missense_Mutation_p.P14R|STAU1_ENST00000371856.2_Missense_Mutation_p.P95R|STAU1_ENST00000340954.7_Missense_Mutation_p.P14R|STAU1_ENST00000371792.1_Missense_Mutation_p.P14R	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	95						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCGAGAGTAAGGGTCAACAGG	0.388000													17	33					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7373863	7373863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:7373863G>A	ENST00000502583.1	-	5	1753	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*	CAGE1_ENST00000379918.4_Nonsense_Mutation_p.Q397*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.Q261*|CAGE1_ENST00000512086.1_Nonsense_Mutation_p.Q397*|CAGE1_ENST00000338150.4_Nonsense_Mutation_p.Q397*	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	397										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTGGATTCCTGAAGATGTTTT	0.328000													12	37					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			52	152					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970095	118970095	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:118970095C>G	ENST00000515256.1	+	3	824	c.652C>G	c.(652-654)Cct>Gct	p.P218A				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	218						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AGCCAAGACTCCTGACTGGCT	0.592000													3	65					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799112	45799112	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:45799112C>G	ENST00000553795.1	-	4	1067	c.759G>C	c.(757-759)caG>caC	p.Q253H	OR13A1_ENST00000536058.1_Missense_Mutation_p.Q253H|OR13A1_ENST00000374401.2_Missense_Mutation_p.Q253H	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGAAGGCTTTCTGCCTCCCCC	0.557000													11	33					0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96266056	96266056	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:96266056C>T	ENST00000344280.3	-	14	2018	c.1461G>A	c.(1459-1461)atG>atA	p.M487I	SNRPF_ENST00000553192.1_Intron|SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	487										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTCTGTTTCATCCTCTCAA	0.408000													37	41					0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119535948	119535948	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:119535948C>T	ENST00000393716.2	+	9	3033	c.1194C>T	c.(1192-1194)acC>acT	p.T398T	NR1I2_ENST00000337940.4_Silent_p.T437T|NR1I2_ENST00000466380.1_Silent_p.T361T	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	398	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTATGCTCACCGAGCTCCGCA	0.587000													10	25					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140870462	140870462	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:140870462C>T	ENST00000371372.1	+	12	1792	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	CACNA1B_ENST00000371363.1_Silent_p.F549F|CACNA1B_ENST00000371355.4_Silent_p.F550F|CACNA1B_ENST00000277551.2_Silent_p.F549F|CACNA1B_ENST00000371357.1_Silent_p.F550F|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	549					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCAACTGCTTCGACTTTGGGG	0.577000													6	23					0	0	1	0	0
GAS2L1P2	340508	broad.mit.edu	37	9	99838879	99838879	+	RNA	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:99838879G>A	ENST00000442849.2	-	0	1335					NR_002942.1																						TGGTCTAGTGGAGGTCCCGCT	0.607000													6	7					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27597937	27597937	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:27597937G>C	ENST00000233575.2	+	9	913	c.691G>C	c.(691-693)Gat>Cat	p.D231H	SNX17_ENST00000542478.1_Missense_Mutation_p.D17H|SNX17_ENST00000537606.1_Missense_Mutation_p.D206H|SNX17_ENST00000543024.1_Missense_Mutation_p.D17H	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	231					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACGGTATCAGATATTGAGCG	0.532000													15	31					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141979	133141979	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:133141979G>A	ENST00000388996.4	-	15	2569	c.2149C>T	c.(2149-2151)Cct>Tct	p.P717S	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P705S|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P597S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	717					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGGTTCACAGGGTCATGTGCA	0.562000													3	35					0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72006445	72006445	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:72006445G>C	ENST00000370435.4	+	6	751	c.617G>C	c.(616-618)gGa>gCa	p.G206A	RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	206						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GAATTTTTTGGAATAAAACTG	0.333000													14	52					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676984	123676984	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:123676984A>G	ENST00000309154.2	-	1	111	c.74T>C	c.(73-75)cTc>cCc	p.L25P		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AACCACGAAGAGAGATATTCG	0.453000													11	31					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641745	57641745	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:57641745G>A	ENST00000254181.4	+	4	2156	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	USP29_ENST00000598197.1_Missense_Mutation_p.E568K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	568					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGTCTCTCAGGAGATGATTTC	0.448000													45	62					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200801844	200801844	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:200801844G>C	ENST00000358823.2	+	6	1068	c.798G>C	c.(796-798)ttG>ttC	p.L266F	CAMSAP2_ENST00000236925.4_Missense_Mutation_p.L277F|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L266F	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	277	CH.					cytoplasm|microtubule	protein binding										ATATTTGTTTGAAAGAAACTA	0.323000													17	51					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121528291	121528291	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:121528291G>C	ENST00000305949.1	+	18	2151	c.2106G>C	c.(2104-2106)ttG>ttC	p.L702F		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	702	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTACTGTGTTGAGCCCTCTTC	0.428000													24	47					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276416	18276416	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:18276416T>C	ENST00000377369.2	+	7	1378	c.1105T>C	c.(1105-1107)Tac>Cac	p.Y369H	SLC39A12_ENST00000377371.3_Missense_Mutation_p.Y369H|SLC39A12_ENST00000539911.1_Missense_Mutation_p.Y235H|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Y369H	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	369					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AGAATACGGCTACAGCACGGT	0.527000													15	20					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000051	56000051	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:56000051C>A	ENST00000313264.4	-	1	686	c.611G>T	c.(610-612)aGc>aTc	p.S204I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAAGGATAGGCTAAATGTAGC	0.423000													4	93					0.150653	0.151172	1	1	0
OR10J5	127385	broad.mit.edu	37	1	159504977	159504977	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:159504977G>A	ENST00000334857.2	-	1	865	c.821C>T	c.(820-822)tCa>tTa	p.S274L		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GTACGTCACTGAGAGAACAAG	0.478000													22	61					0	0	1	0	0
CCM2	83605	broad.mit.edu	37	7	45077884	45077884	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:45077884C>T	ENST00000381112.3	+	2	805	c.126C>T	c.(124-126)ttC>ttT	p.F42F	CCM2_ENST00000258781.6_Silent_p.F21F|CCM2_ENST00000474617.1_Silent_p.F15F|CCM2_ENST00000475551.1_Silent_p.F15F|CCM2_ENST00000544363.1_Silent_p.F21F|CCM2_ENST00000541586.1_Intron|CCM2_ENST00000461377.1_3'UTR	NM_001029835.2	NP_001025006.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	21					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AACGAGTATTCCTAAAAGGTG	0.458000													21	48					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13040953	13040953	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:13040953C>T	ENST00000506447.1	+	14	2014	c.1934C>T	c.(1933-1935)tCa>tTa	p.S645L	CEP192_ENST00000430049.2_Missense_Mutation_p.S170L|CEP192_ENST00000325971.8_Missense_Mutation_p.S49L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	240										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATCTATATTCAGGTAATGGA	0.348000													28	61					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64554096	64554096	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:64554096C>T	ENST00000498707.1	-	29	4814	c.4472G>A	c.(4471-4473)aGa>aAa	p.R1491K	ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1463K|ADAMTS9-AS1_ENST00000492209.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1491	TSP type-1 11.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCGGCACTTTCTGTGCCCATG	0.498000													19	38					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227609	43227609	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:43227609G>A	ENST00000332499.2	+	1	2926	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	351	Required for inhibition of ESR1-dependent transcription.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CAGCAGGAGCGAGCGCCGCTT	0.572000													18	77					0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67522844	67522844	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:67522844C>T	ENST00000590474.1	+	10	1162	c.875C>T	c.(874-876)tCa>tTa	p.S292L	MAP2K6_ENST00000589647.1_Missense_Mutation_p.S236L	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	292	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GACTTTACCTCACAGTGGTAA	0.473000													13	40					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113433189	113433189	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:113433189C>T	ENST00000392583.2	+	3	744	c.537C>T	c.(535-537)gtC>gtT	p.V179V	OAS2_ENST00000342315.4_Silent_p.V179V|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	179	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGTTTGCAGTCTGCTTCACTG	0.433000													37	30					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229675264	229675264	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:229675264C>T	ENST00000344517.4	-	6	1320	c.1278G>A	c.(1276-1278)atG>atA	p.M426I		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	426	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	p.M426I(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACCCACGGTCATGTGGGCAC	0.453000													32	88					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80223453	80223453	+	Missense_Mutation	SNP	G	G	A	rs145854631	byFrequency	TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:80223453G>A	ENST00000392959.1	-	4	807	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	LCA5_ENST00000369846.4_Missense_Mutation_p.R66W|LCA5_ENST00000467898.3_Missense_Mutation_p.R66W	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	66			R -> Q (in dbSNP:rs35338066).		protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CTTGGTTTCCGAGGGGCTAAA	0.443000													64	79					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478148	14478148	+	RNA	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:14478148G>A	ENST00000581457.1	-	0	1760					NR_024076.1																						GGAAAGCACAGATGAGACGTA	0.408000													7	15					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789280	80789280	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:80789280C>T	ENST00000269394.3	-	2	1884	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	351						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GTGGCTTCTTCAAGCAGGTGA	0.532000													49	137					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64176283	64176283	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:64176283A>C	ENST00000262150.2	-	11	2069	c.1777T>G	c.(1777-1779)Ttc>Gtc	p.F593V	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	593					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCTGTCTTGAATCCCATGGAA	0.408000													3	58					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28884771	28884771	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:28884771C>T	ENST00000375664.4	+	7	1194	c.585C>T	c.(583-585)caC>caT	p.H195H	WAC_ENST00000347934.4_Intron|WAC_ENST00000428935.1_Silent_p.H195H|WAC_ENST00000375646.1_Intron|WAC_ENST00000354911.4_Silent_p.H240H			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CAGAGACTCACAGTAGTTCTA	0.473000													22	43					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15386730	15386730	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:15386730G>A	ENST00000376030.2	+	6	1273	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	KAZN_ENST00000400797.3_Missense_Mutation_p.E233K|KAZN_ENST00000400798.2_Missense_Mutation_p.E233K|KAZN_ENST00000503743.1_Missense_Mutation_p.E327K|KAZN_ENST00000361144.5_Missense_Mutation_p.E321K|KAZN_ENST00000422387.2_Missense_Mutation_p.E327K	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	327	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ATCTGCCGCCGAAGGCGACCG	0.667000													14	74					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68835596	68835596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:68835596C>T	ENST00000261769.5	+	3	378	c.187C>T	c.(187-189)Cga>Tga	p.R63*	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Nonsense_Mutation_p.R63*	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	63					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.R63G(1)|p.R63*(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TTGCACCGGTCGACAAAGGAC	0.448000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				53	32					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33928741	33928741	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:33928741G>C	ENST00000389232.4	+	27	3616	c.3546G>C	c.(3544-3546)gaG>gaC	p.E1182D	RYR3_ENST00000415757.3_Missense_Mutation_p.E1182D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1182	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGACTACGAGATTGAGAATG	0.478000													28	42					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148529804	148529804	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:148529804G>A	ENST00000320356.2	-	4	406	c.285C>T	c.(283-285)gtC>gtT	p.V95V	EZH2_ENST00000483967.1_Silent_p.V86V|EZH2_ENST00000460911.1_Silent_p.V95V|EZH2_ENST00000476773.1_Silent_p.V86V|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000541220.1_Silent_p.V86V|EZH2_ENST00000350995.2_Intron|EZH2_ENST00000478654.1_Silent_p.V86V	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	95	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTAATGGGATGACTTGTGTTG	0.358000			Mis		DLBCL								38	70					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609543	95609543	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:95609543G>C	ENST00000395505.2	-	3	1510	c.1418C>G	c.(1417-1419)tCa>tGa	p.S473*	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Nonsense_Mutation_p.S473*|ZNF484_ENST00000395506.3_Nonsense_Mutation_p.S511*|ZNF484_ENST00000375495.3_Nonsense_Mutation_p.S509*	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AATGAGATTTGACCTGTCAGT	0.393000													5	99					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37873620	37873620	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:37873620C>A	ENST00000406381.2	+	17	2205	c.1695C>A	c.(1693-1695)ttC>ttA	p.F565L	ERBB2_ENST00000584601.1_Missense_Mutation_p.F565L|ERBB2_ENST00000584450.1_Missense_Mutation_p.F595L|ERBB2_ENST00000541774.1_Missense_Mutation_p.F580L|ERBB2_ENST00000445658.2_Missense_Mutation_p.F319L|ERBB2_ENST00000269571.5_Missense_Mutation_p.F595L|ERBB2_ENST00000540147.1_Missense_Mutation_p.F565L|ERBB2_ENST00000578199.1_Missense_Mutation_p.F565L|ERBB2_ENST00000540042.1_Missense_Mutation_p.F565L	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	595					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACCCTCCCTTCTGCGTGGCCC	0.627000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			15	40					1.3612e-06	1.41964e-06	1	1	0
MPND	84954	broad.mit.edu	37	19	4345913	4345913	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:4345913G>A	ENST00000599840.1	+	3	501	c.466G>A	c.(466-468)Gac>Aac	p.D156N	MPND_ENST00000359935.4_Missense_Mutation_p.D156N|MPND_ENST00000262966.8_Missense_Mutation_p.D156N			Q8N594	MPND_HUMAN	MPN domain containing	156							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGAAACTGGACAAGTACAA	0.637000													12	27					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32257928	32257928	+	Silent	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:32257928G>T	ENST00000360482.2	-	15	2979	c.2850C>A	c.(2848-2850)ctC>ctA	p.L950L	SPOCD1_ENST00000257100.3_Silent_p.L443L|SPOCD1_ENST00000533231.1_Silent_p.L950L|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	950	SPOC.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCCTATCATTGAGGTATGAGT	0.667000													4	10					0.150653	0.151172	1	1	0
AFAP1	60312	broad.mit.edu	37	4	7820893	7820893	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:7820893G>A	ENST00000420658.1	-	7	1004	c.732C>T	c.(730-732)atC>atT	p.I244I	AFAP1_ENST00000358461.2_Silent_p.I244I|AFAP1_ENST00000360265.4_Silent_p.I244I|AFAP1_ENST00000382543.3_Silent_p.I244I	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	244	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						AGGCTTCTTTGATCACCTATA	0.517000													9	6					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231471504	231471504	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:231471504C>G	ENST00000366645.1	-	1	2094	c.1976G>C	c.(1975-1977)cGa>cCa	p.R659P	EXOC8_ENST00000360394.2_Missense_Mutation_p.R663P			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	663					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTGCTCACATCGAAGACTATA	0.443000													36	123					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70550758	70550758	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:70550758C>T	ENST00000260128.4	+	20	3023	c.2306C>T	c.(2305-2307)aCg>aTg	p.T769M	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.T769M|SULF1_ENST00000458141.2_Missense_Mutation_p.T769M|SULF1_ENST00000402687.4_Missense_Mutation_p.T769M	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	769					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGTGCTTGCACGAGTTCTAAC	0.388000													3	31					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26714071	26714071	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:26714071G>A	ENST00000396005.3	-	9	1427	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	SLC5A12_ENST00000280467.6_Missense_Mutation_p.S373F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	373					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAGCTTGTCGGAGAGATGAGG	0.433000													9	32					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35900617	35900617	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:35900617C>T	ENST00000325722.3	-	21	3262	c.3028G>A	c.(3028-3030)Gat>Aat	p.D1010N	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.D447N	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	1010						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGGCATCATCGCTGTCCAGC	0.542000													20	37					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234553935	234553935	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:234553935G>A	ENST00000040877.1	-	22	3599	c.3600C>T	c.(3598-3600)ttC>ttT	p.F1200F		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1200					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GATTGTTGGTGAAACCAGCCT	0.274000													9	35					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55254247	55254247	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:55254247C>T	ENST00000337526.6	-	3	1231	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	RTN4_ENST00000405240.1_Missense_Mutation_p.E124K|RTN4_ENST00000357376.3_Missense_Mutation_p.E124K|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.E124K|RTN4_ENST00000404909.1_Missense_Mutation_p.E124K|RTN4_ENST00000354474.6_Missense_Mutation_p.E98K	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	330					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTCTCTTCTTCATCTTTATTT	0.353000													12	34					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43896275	43896275	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:43896275C>T	ENST00000562955.1	+	31	4418	c.4418C>T	c.(4417-4419)tCg>tTg	p.S1473L	SZT2_ENST00000372442.1_Missense_Mutation_p.S631L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1530						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACTCTGCCTCGCTGTCAGAC	0.572000													20	78					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17988875	17988875	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:17988875C>T	ENST00000222248.3	+	7	1289	c.942C>T	c.(940-942)ctC>ctT	p.L314L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	314					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACCCTCTCCTCCTGGGGCGCA	0.602000													19	29					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64532290	64532290	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr14:64532290G>A	ENST00000358025.3	+	51	10583	c.10353G>A	c.(10351-10353)ctG>ctA	p.L3451L	SYNE2_ENST00000344113.4_Silent_p.L3451L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L3484L|SYNE2_ENST00000555002.1_Silent_p.L85L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3451					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAAATGGCTGAGTTTGCTGG	0.443000													13	18					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176016155	176016155	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:176016155G>A	ENST00000510636.1	+	22	3254	c.2980G>A	c.(2980-2982)Gag>Aag	p.E994K	CDHR2_ENST00000506348.1_Missense_Mutation_p.E994K|CDHR2_ENST00000261944.5_Missense_Mutation_p.E994K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	994	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CACCTCCTCCGAGGCCGACGT	0.617000													8	119					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38420831	38420831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:38420831C>T	ENST00000323571.4	+	5	643	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Nonsense_Mutation_p.Q135*|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Nonsense_Mutation_p.Q135*	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	135						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CGGGCGTCCTCAGGATGATAC	0.592000										HNSCC(43;0.11)			15	86					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57867776	57867776	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:57867776C>G	ENST00000391705.3	+	4	823	c.539C>G	c.(538-540)tCt>tGt	p.S180C	ZNF304_ENST00000443917.2_Missense_Mutation_p.S227C|ZNF304_ENST00000598744.1_Missense_Mutation_p.S138C|ZNF304_ENST00000282286.5_Missense_Mutation_p.S180C	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CCAGATAGCTCTGGCCTTTTC	0.522000													26	49					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42631964	42631964	+	Silent	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:42631964C>G	ENST00000318010.8	+	17	2181	c.1941C>G	c.(1939-1941)acC>acG	p.T647T		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	647					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GCCATGCCACCATGAACACCA	0.582000													22	31					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31656625	31656625	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:31656625A>T	ENST00000295770.2	+	6	1115	c.906A>T	c.(904-906)ttA>ttT	p.L302F	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	302					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTGTGGGTTTAATATTATCAA	0.318000													20	34					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231943	40231943	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:40231943G>A	ENST00000302541.6	+	10	1996	c.1654G>A	c.(1654-1656)Gac>Aac	p.D552N	MYRIP_ENST00000444716.1_Missense_Mutation_p.D552N|MYRIP_ENST00000425621.1_Missense_Mutation_p.D552N|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.D463N|MYRIP_ENST00000539167.1_Missense_Mutation_p.D365N	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	552	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCGGGATCTAGACACACATCA	0.567000													5	15					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33383682	33383682	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:33383682C>T	ENST00000374516.3	+	15	1782	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	504					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCATCCCCATCCCCAGGTCTT	0.582000													16	47					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5103819	5103819	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:5103819G>T	ENST00000396912.1	+	5	1251	c.732G>T	c.(730-732)caG>caT	p.Q244H	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.Q244H|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	244	Required for interaction with RB1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ACTTCATACAGATGTCAAATT	0.378000													3	55					1	1	1	1	0
MAGEE2	139599	broad.mit.edu	37	X	75004496	75004496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chrX:75004496G>A	ENST00000373359.2	-	1	583	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	131	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTGAGGCTCGTCTGAGGATC	0.498000													11	4					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85435076	85435076	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:85435076G>A	ENST00000359152.5	-	1	3995	c.3996C>T	c.(3994-3996)tcC>tcT	p.S1332S	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Splice_Site_p.S808S|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Splice_Site_p.S808S|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	486					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AATGCTCACTGGAAGGATTTC	0.328000													14	87					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880588	37880588	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:37880588G>A	ENST00000436120.2	+	5	1744	c.1637G>A	c.(1636-1638)aGa>aAa	p.R546K	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R546I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAACATCAAAGAATTCATACT	0.403000													17	87					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118942991	118942991	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:118942991G>T	ENST00000467604.1	-	5	979	c.588C>A	c.(586-588)gaC>gaA	p.D196E	B4GALT4_ENST00000359213.3_Missense_Mutation_p.D196E|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Missense_Mutation_p.D196E|B4GALT4_ENST00000393765.2_Missense_Mutation_p.D196E			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	196					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CGGGTACCAGGTCCACATCGT	0.463000													7	34					0.00198382	0.00202197	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134360138	134360138	+	Silent	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:134360138C>G	ENST00000357304.4	+	23	5581	c.5526C>G	c.(5524-5526)ctC>ctG	p.L1842L	PRRC2B_ENST00000405995.1_Silent_p.L1148L|PRRC2B_ENST00000458550.1_Silent_p.L1148L|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1842							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCATCGGTCTCTCCCCAATGT	0.567000													19	45					0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43298983	43298983	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:43298983G>C	ENST00000325110.6	-	3	291	c.85C>G	c.(85-87)Caa>Gaa	p.Q29E	HMGCS1_ENST00000433297.2_Missense_Mutation_p.Q29E	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	29					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TCAACATATTGAGAAGGAAAA	0.443000													17	42					0	0	1	0	0
MRPL30	51263	broad.mit.edu	37	2	99811311	99811311	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:99811311G>C	ENST00000338148.3	+	4	428	c.230G>C	c.(229-231)aGa>aCa	p.R77T	MRPL30_ENST00000410042.1_Missense_Mutation_p.R77T|MRPL30_ENST00000465432.1_3'UTR|MRPL30_ENST00000409145.1_Missense_Mutation_p.R77T|C2orf15_ENST00000512183.2_Missense_Mutation_p.R77T	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	77					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						AGTACAAGAAGACGTCCATAT	0.328000													15	43					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48377989	48377989	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:48377989T>C	ENST00000222002.3	-	5	809	c.670A>G	c.(670-672)Aaa>Gaa	p.K224E		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	224					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TTGTTTTCTTTCATGCTCTGA	0.398000													59	91					0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121991733	121991733	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:121991733C>G	ENST00000263707.5	-	12	1229	c.1132G>C	c.(1132-1134)Gag>Cag	p.E378Q		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	378					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TGCTCCAGCTCCTGACAGACA	0.527000													17	31					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14840969	14840969	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:14840969G>T	ENST00000261170.3	-	2	382	c.246C>A	c.(244-246)ttC>ttA	p.F82L	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	82					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCGAATACATGAAAGTAGCGT	0.423000													18	22					5.03518e-11	5.41607e-11	1	1	0
RASIP1	54922	broad.mit.edu	37	19	49224145	49224145	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:49224145G>A	ENST00000222145.4	-	12	3006	c.2802C>T	c.(2800-2802)ctC>ctT	p.L934L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	934					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGCCTACGGAGTTCACGGT	0.642000													19	58					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39920968	39920968	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:39920968C>T	ENST00000393931.3	-	7	1273	c.1155G>A	c.(1153-1155)aaG>aaA	p.K385K	JUP_ENST00000310706.5_Silent_p.K385K|JUP_ENST00000393930.1_Silent_p.K385K|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	385					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCCTCACCTGCTTGGTGGCCA	0.642000													4	54					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31918724	31918724	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:31918724C>G	ENST00000396184.3	-	5	514	c.310G>C	c.(310-312)Gac>Cac	p.D104H	PDE1C_ENST00000396191.1_Missense_Mutation_p.D104H|PDE1C_ENST00000321453.7_Missense_Mutation_p.D104H|PDE1C_ENST00000396193.1_Missense_Mutation_p.D164H|PDE1C_ENST00000396182.2_Missense_Mutation_p.D104H	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	104					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCCAGCCAGTCTCGGACCTCA	0.562000													10	32					0	0	1	0	0
BACE1	23621	broad.mit.edu	37	11	117162452	117162452	+	Silent	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:117162452G>C	ENST00000313005.6	-	6	1378	c.918C>G	c.(916-918)gtC>gtG	p.V306V	BACE1_ENST00000428381.2_Silent_p.V237V|BACE1_ENST00000528053.1_Intron|BACE1_ENST00000510630.1_Silent_p.V181V|BACE1_ENST00000513780.1_Silent_p.V281V|BACE1_ENST00000445823.2_Silent_p.V262V|BACE1_ENST00000392937.6_Silent_p.V206V	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	306					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		TGATGGATTTGACTGCAGCTT	0.488000													3	40					0	0	1	0	0
LRRC24	441381	broad.mit.edu	37	8	145748396	145748396	+	Silent	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:145748396G>T	ENST00000529415.2	-	5	1122	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	LRRC14_ENST00000528528.1_3'UTR|LRRC24_ENST00000533758.1_Silent_p.I332I|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	335	Ig-like C2-type.					integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCGCCAGCGTGATGTTGCTGA	0.721000													4	19					0.150653	0.151172	1	1	0
DDX11	1663	broad.mit.edu	37	12	31255426	31255426	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:31255426G>A	ENST00000407793.2	+	23	2588	c.2337G>A	c.(2335-2337)atG>atA	p.M779I	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.M779I|DDX11_ENST00000228264.6_Missense_Mutation_p.M753I|DDX11_ENST00000350437.4_Missense_Mutation_p.M729I|DDX11_ENST00000545668.1_Missense_Mutation_p.M779I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	779					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAGGAAAGATGAGTGAAGGGA	0.597000										Multiple Myeloma(12;0.14)			25	25					0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43968550	43968550	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:43968550C>T	ENST00000244333.3	-	2	226	c.138G>A	c.(136-138)ccG>ccA	p.P46P		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	46	UPAR/Ly6 1.					anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				TCATCTTGTTCGGGGAGCATC	0.662000													3	32					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27597295	27597295	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:27597295G>T	ENST00000233575.2	+	7	828	c.606G>T	c.(604-606)agG>agT	p.R202S	SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000537606.1_Missense_Mutation_p.R177S|SNX17_ENST00000543024.1_5'UTR	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	202	Ras-associating.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTGCTAAGGAAGAGGTCAG	0.488000													15	38					0.0202918	0.0205384	1	1	0
AHCYL1	10768	broad.mit.edu	37	1	110559289	110559289	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:110559289C>T	ENST00000369799.5	+	9	1267	c.900C>T	c.(898-900)ggC>ggT	p.G300G	AHCYL1_ENST00000359172.3_Splice_Site_p.G253G|AHCYL1_ENST00000393614.4_Splice_Site_p.G253G	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	300	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		GTTTCCACAGCCTGAAGAGGA	0.453000													35	85					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35959485	35959485	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:35959485C>T	ENST00000490799.1	-	7	1246	c.893G>A	c.(892-894)aGa>aAa	p.R298K	SLC26A8_ENST00000394602.2_Intron|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R298K	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	298					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GAAAGAAATTCTGATACATTT	0.333000													14	12					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155655450	155655450	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:155655450C>G	ENST00000496455.2	+	16	2386	c.2051C>G	c.(2050-2052)tCa>tGa	p.S684*	GMPS_ENST00000295920.7_Nonsense_Mutation_p.S585*	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase						glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GACTTAACATCAAAGCCCCCA	0.328000			T	MLL	AML								9	29					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7828306	7828306	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:7828306G>C	ENST00000327325.5	+	2	192	c.74G>C	c.(73-75)aGa>aCa	p.R25T	CLEC4M_ENST00000359059.5_Missense_Mutation_p.R25T|CLEC4M_ENST00000248228.4_Missense_Mutation_p.R25T|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000595496.1_Missense_Mutation_p.R25T|CLEC4M_ENST00000597522.1_Missense_Mutation_p.R25T|CLEC4M_ENST00000357361.2_Missense_Mutation_p.R25T|CLEC4M_ENST00000596707.1_Missense_Mutation_p.R25T|CLEC4M_ENST00000394122.2_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	25					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGTGGCATCAGACTTTTTCCA	0.507000													30	57					0	0	1	0	0
XBP1	7494	broad.mit.edu	37	22	29193133	29193133	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:29193133C>G	ENST00000216037.6	-	3	457	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	XBP1_ENST00000403532.3_Missense_Mutation_p.E134Q|XBP1_ENST00000344347.5_Missense_Mutation_p.E129Q|XBP1_ENST00000405219.3_Missense_Mutation_p.E79Q	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	129					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TCCTGGTTCTCAACTACAAGG	0.423000													5	40					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317490	30317490	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:30317490C>T	ENST00000375377.1	-	3	1688	c.1587G>A	c.(1585-1587)gtG>gtA	p.V529V		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	529										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGCTGCCTCTCACATCAGGCC	0.612000													21	83					0	0	1	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278131	89278131	+	RNA	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:89278131G>A	ENST00000390247.2	-	0	300																											CACCATAGATGAGGAGCCTGG	0.592000													23	52					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8947109	8947109	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:8947109G>A	ENST00000326053.5	-	5	1211	c.1105C>T	c.(1105-1107)Ccc>Tcc	p.P369S	C11orf16_ENST00000525780.1_Missense_Mutation_p.P369S	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	369										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AGAAAGATGGGATCTGTGTTG	0.552000													11	41					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40695180	40695180	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:40695180G>A	ENST00000225927.2	+	6	1257	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	386						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTGTTTGCTGAGAGCCAGCC	0.627000													25	87					0	0	1	0	0
LCMT1	51451	broad.mit.edu	37	16	25189326	25189326	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:25189326G>A	ENST00000399069.3	+	11	1142	c.987G>A	c.(985-987)ctG>ctA	p.L329L	LCMT1_ENST00000380966.4_Silent_p.L274L|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	329							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CCTCAGGGCTGAAGGAGATAA	0.607000													13	59					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51250932	51250932	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:51250932G>T	ENST00000261842.5	+	14	1898	c.1792G>T	c.(1792-1794)Gag>Tag	p.E598*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.E523*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	598					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACATTTGCATGAGAATGTGGA	0.368000													32	83					1.22384e-17	1.34116e-17	1	1	0
TSC1	7248	broad.mit.edu	37	9	135804161	135804161	+	Silent	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:135804161G>T	ENST00000298552.3	-	3	320	c.99C>A	c.(97-99)ctC>ctA	p.L33L	TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Silent_p.L33L|TSC1_ENST00000403810.1_Silent_p.L33L|TSC1_ENST00000545250.1_Silent_p.L33L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	33					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AACCAGAATTGAGGTTCTCTT	0.438000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				14	25					1.05317e-09	1.12454e-09	1	1	0
CCR4	1233	broad.mit.edu	37	3	32995352	32995352	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:32995352G>C	ENST00000330953.5	+	2	606	c.438G>C	c.(436-438)ttG>ttC	p.L146F		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	146					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		p.L146F(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGTTTTCCTTGAGGGCAAGGA	0.478000													39	76					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2200296	2200296	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:2200296G>A	ENST00000511885.2	-	6	1216	c.863C>T	c.(862-864)tCt>tTt	p.S288F	POLN_ENST00000382865.1_Missense_Mutation_p.S288F|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	288					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCAGATAGCAGAGTGCTCTAT	0.507000								DNA polymerases (catalytic subunits)					41	39					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	793545	793545	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:793545G>C	ENST00000320230.5	-	5	758	c.277C>G	c.(277-279)Cag>Gag	p.Q93E	SLC25A22_ENST00000531214.1_Missense_Mutation_p.Q93E	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	93						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	TTAGAGAGCTGATGTCGGAAG	0.617000													7	14					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191843582	191843582	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:191843582C>T	ENST00000361099.3	-	21	2260	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	STAT1_ENST00000392322.3_Splice_Site_p.E625K|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Splice_Site_p.E627K|STAT1_ENST00000409465.1_Splice_Site_p.E625K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	625	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCCCACTCACCGCCTCCGTTC	0.587000													3	15					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33370150	33370150	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:33370150A>C	ENST00000305768.5	-	19	2358	c.2270T>G	c.(2269-2271)cTc>cGc	p.L757R		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GACGCCATTGAGGCTGGGGGC	0.592000													44	75					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874912	24874912	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:24874912C>T	ENST00000396432.2	-	26	4792	c.4306G>A	c.(4306-4308)Gaa>Aaa	p.E1436K	ARHGAP21_ENST00000320481.6_3'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1435					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGTCCAGTTCATCTTCTGAG	0.423000													28	50					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149523591	149523591	+	RNA	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:149523591C>T	ENST00000378016.2	+	0	14505							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCGTGCCTCTGCTGGCATC	0.662000													4	10					0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139195287	139195287	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:139195287C>G	ENST00000232217.2	-	1	71	c.15G>C	c.(13-15)caG>caC	p.Q5H	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	5					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	AGGTTCCATTCTGGTCCCTTG	0.537000													10	37					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101276363	101276363	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:101276363C>T	ENST00000519449.1	-	8	1683	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q	RNF19A_ENST00000523255.1_Intron|RNF19A_ENST00000341084.2_Missense_Mutation_p.R456Q	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	456					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ACCTCCGCTTCGACAAAGAGA	0.373000													15	29					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38698874	38698874	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:38698874C>T	ENST00000396832.1	-	4	588	c.328G>A	c.(328-330)Gac>Aac	p.D110N	CSNK1E_ENST00000413574.2_Missense_Mutation_p.D110N|CSNK1E_ENST00000405675.3_Missense_Mutation_p.D110N|CSNK1E_ENST00000400206.2_Missense_Mutation_p.D110N|CSNK1E_ENST00000403904.1_Missense_Mutation_p.D110N|CSNK1E_ENST00000359867.3_Missense_Mutation_p.D110N	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	110	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ACCATCTGGTCGGCCAAGAGC	0.622000													8	29					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33831208	33831208	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:33831208C>G	ENST00000261326.5	+	11	2147	c.2126C>G	c.(2125-2127)tCa>tGa	p.S709*		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	709	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AAACAAAGTTCAAACTCTCAA	0.378000													24	57					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1559306	1559306	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:1559306G>A	ENST00000357210.4	+	4	790	c.574G>A	c.(574-576)Gag>Aag	p.E192K	MIB2_ENST00000504599.1_Missense_Mutation_p.E148K|MIB2_ENST00000360522.4_Missense_Mutation_p.E192K|MIB2_ENST00000355826.5_Missense_Mutation_p.E235K|MIB2_ENST00000378708.1_Missense_Mutation_p.E134K|MIB2_ENST00000518681.1_Missense_Mutation_p.E249K|MIB2_ENST00000378710.3_Missense_Mutation_p.E192K|MIB2_ENST00000378712.1_Missense_Mutation_p.E134K|MIB2_ENST00000505820.2_Missense_Mutation_p.E249K|MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000520777.1_Missense_Mutation_p.E249K	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	192					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGACCGCTACGAGACCGCTCA	0.682000													3	12					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94563282	94563282	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:94563282G>A	ENST00000433060.2	+	5	1621	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	AMOTL1_ENST00000317829.8_Missense_Mutation_p.E444K|AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	494						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CACCAAGCGAGAATCGCTGGA	0.418000													3	7					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17954670	17954670	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:17954670G>A	ENST00000458235.1	-	3	323	c.224C>T	c.(223-225)aCg>aTg	p.T75M	JAK3_ENST00000527670.1_Missense_Mutation_p.T75M|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.T75M	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	75	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CAGGTCCTCCGTGGCCAGAGC	0.617000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								3	29					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650878	121650878	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:121650878C>T	ENST00000393386.2	+	12	2189	c.1778C>T	c.(1777-1779)aCt>aTt	p.T593I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.T593I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	593					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGTCCCGCAACTTCTGCTATC	0.393000													18	29					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154561914	154561914	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:154561914G>A	ENST00000368474.4	-	9	2892	c.2693C>T	c.(2692-2694)tCt>tTt	p.S898F	ADAR_ENST00000292205.5_Missense_Mutation_p.S941F|ADAR_ENST00000368471.3_Missense_Mutation_p.S603F	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	898	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TAGGCTGAGAGAATCTCCTTT	0.468000													43	106					0	0	1	0	0
IGKV6-21	28906	broad.mit.edu	37	2	89459279	89459279	+	RNA	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:89459279C>T	ENST00000390256.2	-	0	361																											GCAGCATCTTCAGCTTCCAGG	0.483000													40	51					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67766695	67766695	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:67766695G>C	ENST00000227471.2	-	5	714	c.635C>G	c.(634-636)tCc>tGc	p.S212C	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	212					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											GGGCGCGTGGGAGCCCCGCGG	0.602000													6	46					0	0	1	0	0
TRIM73	375593	broad.mit.edu	37	7	75028242	75028242	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:75028242G>A	ENST00000323819.3	+	2	225	c.25G>A	c.(25-27)Gag>Aag	p.E9K	TRIM73_ENST00000447409.2_Missense_Mutation_p.E9K|TRIM73_ENST00000437796.1_Missense_Mutation_p.E9K|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000430211.1_Missense_Mutation_p.E9K	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN	tripartite motif containing 73	9						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GAGCCTGCTGGAGCTGGAGGA	0.617000													18	85					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79663897	79663897	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:79663897C>T	ENST00000329138.4	+	18	1886	c.1751C>T	c.(1750-1752)tCg>tTg	p.S584L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	584	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TACCAGCCCTCGGGACCAGCC	0.682000													23	50					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160119704	160119704	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:160119704G>A	ENST00000357388.3	+	3	592	c.141G>A	c.(139-141)gaG>gaA	p.E47E	SMC4_ENST00000462787.1_Splice_Site_p.E47E|SMC4_ENST00000469762.1_Intron|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Splice_Site_p.E47E|SMC4_ENST00000360111.2_Splice_Site_p.E47E	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	47					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTGACTTAGAGACTGCAAGTG	0.453000													31	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397025	179397025	+	Silent	SNP	A	A	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:179397025A>G	ENST00000589042.1	-	358	104541	c.104317T>C	c.(104317-104319)Ttg>Ctg	p.L34773L	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Silent_p.L25833L|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342992.6_Silent_p.L32205L|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000591111.1_Silent_p.L33132L|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.L25708L|TTN_ENST00000342175.6_Silent_p.L25900L|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33132							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCGAAGCAACTCTTCATCC	0.483000													15	36					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31202724	31202724	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:31202724G>C	ENST00000254108.7	+	15	1651	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	FUS_ENST00000380244.3_Missense_Mutation_p.E515Q|FUS_ENST00000568685.1_Missense_Mutation_p.E517Q	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	516	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ttGCAGGGGTGAGCACAGACA	0.453000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								11	27					0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59081738	59081738	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:59081738C>G	ENST00000215057.2	-	3	1113	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.E185Q|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E185Q|MZF1_ENST00000594234.1_Missense_Mutation_p.E185Q	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	185					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TCTGACTCCTCTTTCACCTGC	0.602000													33	82					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33684556	33684556	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr14:33684556G>T	ENST00000346562.2	+	2	293	c.219G>T	c.(217-219)atG>atT	p.M73I	NPAS3_ENST00000548645.1_Missense_Mutation_p.M73I|NPAS3_ENST00000357798.5_Missense_Mutation_p.M73I|NPAS3_ENST00000356141.4_Missense_Mutation_p.M103I|NPAS3_ENST00000341321.4_Missense_Mutation_p.M103I|NPAS3_ENST00000551008.1_Start_Codon_SNP_p.M1I|NPAS3_ENST00000551492.1_Missense_Mutation_p.M110I|NPAS3_ENST00000547068.1_Start_Codon_SNP_p.M1I	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	103	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATCTGAAAATGAGGGACTTTG	0.473000													18	28					9.16793e-09	9.71801e-09	1	1	0
SRA1	10011	broad.mit.edu	37	5	139936834	139936834	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:139936834C>T	ENST00000336283.6	-	2	906	c.85G>A	c.(85-87)Gac>Aac	p.D29N	SRA1_ENST00000520427.1_5'UTR	NM_001035235.3	NP_001030312.2	Q9HD15	SRA1_HUMAN	steroid receptor RNA activator 1	29				D -> T (in Ref. 4; AAH40043).	apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGCGGGTCGTTCCAGCCG	0.662000													12	31					0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76113578	76113578	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:76113578G>C	ENST00000590602.1	-	17	2328	c.2169C>G	c.(2167-2169)ttC>ttG	p.F723L	TMC6_ENST00000591436.1_Missense_Mutation_p.F302L|TMC6_ENST00000392467.3_Missense_Mutation_p.F723L|TMC6_ENST00000322914.3_Missense_Mutation_p.F723L|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.F302L|TMC6_ENST00000592076.1_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	723						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGAAGACAAAGAAGGTGTTTT	0.692000													6	11					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228404956	228404956	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:228404956G>A	ENST00000570156.2	+	8	2694	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	OBSCN_ENST00000422127.1_Missense_Mutation_p.E874K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E874K|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	874	Ig-like 8.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGCGTGGGCGAGGACTCTGT	0.677000													20	51					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486172	36486172	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:36486172G>C	ENST00000342292.4	-	11	3300	c.3280C>G	c.(3280-3282)Ctg>Gtg	p.L1094V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1094						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAACGGGTCAGAGCTTTAATC	0.607000													13	51					0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262899	127262899	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:127262899G>A	ENST00000373588.4	-	4	536	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	114					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						CCATTGGCCCGAATCTGTGCC	0.677000													11	16					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445195	99445195	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:99445195C>G	ENST00000354829.2	+	5	506	c.403C>G	c.(403-405)Cca>Gca	p.P135A	CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P135A|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P135A|CYP3A43_ENST00000342499.4_5'UTR	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	135			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	ATTGCTATCTCCAGCTTTCAC	0.358000													24	41					0	0	1	0	0
TACO1	51204	broad.mit.edu	37	17	61678658	61678658	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:61678658G>A	ENST00000258975.6	+	1	428	c.216G>A	c.(214-216)ccG>ccA	p.P72P		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	72					regulation of translation	mitochondrion				breast(2)|endometrium(1)|lung(1)	4						TCAAGGGTCCGAAGGACGTCG	0.632000													4	8					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29562679	29562679	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:29562679C>T	ENST00000358273.4	+	28	4142	c.3759C>T	c.(3757-3759)ctC>ctT	p.L1253L	NF1_ENST00000356175.3_Silent_p.L1253L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1253	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.S1249fs*8(1)|p.L1253fs*8(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGCATTTACTCTACCAACTGC	0.403000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			47	183					0	0	1	0	0
SMIM11	54065	broad.mit.edu	37	21	35757905	35757905	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr21:35757905G>A	ENST00000399295.2	+	3	512	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	SMIM11_ENST00000399299.1_Intron|SMIM11_ENST00000399292.3_Missense_Mutation_p.E48K|SMIM11_ENST00000481710.1_3'UTR					small integral membrane protein 11																		ACTGGAGGCTGAAAGGAAGAA	0.433000													5	26					0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4202319	4202319	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:4202319C>T	ENST00000379453.4	-	2	1686	c.1570G>A	c.(1570-1572)Ggg>Agg	p.G524R		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	524				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TGCGCGCCCCCGGCGCGGATC	0.726000													8	17					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430643	78430643	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:78430643C>G	ENST00000370767.1	-	9	734	c.647G>C	c.(646-648)gGa>gCa	p.G216A	FUBP1_ENST00000370768.2_Missense_Mutation_p.G216A|FUBP1_ENST00000436586.2_Missense_Mutation_p.G237A			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	216	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATTTTAACTCCAGCCCGTTC	0.363000			"""F, N"""		oligodendroglioma								5	94					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152813400	152813400	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chrX:152813400G>C	ENST00000370186.1	+	7	1350	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	ATP2B3_ENST00000370181.2_Missense_Mutation_p.E342Q|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E356Q|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E342Q|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E356Q|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E356Q			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	356					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCCAAAAAGGAGAAGTCTGT	0.607000													7	21					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105819884	105819884	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:105819884G>A	ENST00000353479.5	-	14	1424	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	COL17A1_ENST00000369733.3_Silent_p.I378I|COL17A1_ENST00000393211.3_Silent_p.I378I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	378	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CACTTGCAGCGATGCTGGCAG	0.517000													22	35					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96651533	96651533	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr13:96651533G>A	ENST00000376747.3	-	6	759	c.689C>T	c.(688-690)tCt>tTt	p.S230F	UGGT2_ENST00000376712.4_Missense_Mutation_p.S230F|UGGT2_ENST00000376714.3_Missense_Mutation_p.S230F|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000397618.3_Missense_Mutation_p.S230F	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	230					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ACCATACCCAGATAAGTACAT	0.343000													28	68					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552205	102552205	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr14:102552205G>C	ENST00000334701.7	-	4	1066	c.785C>G	c.(784-786)tCt>tGt	p.S262C	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S140C|HSP90AA1_ENST00000441629.2_Intron	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	140					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CAAATAAGCAGAATAAAAACC	0.473000													34	35					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349447	30349447	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:30349447G>C	ENST00000327564.7	+	1	1424	c.1363G>C	c.(1363-1365)Gag>Cag	p.E455Q	LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E346Q|LRRC37B_ENST00000341671.7_Missense_Mutation_p.E428Q|LRRC37B_ENST00000584368.1_Missense_Mutation_p.E440Q|LRRC37B_ENST00000394713.3_Missense_Mutation_p.E428Q			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	428						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CATAACTACAGAGCCTACTAC	0.532000													47	129					0	0	1	0	0
N4BP3	23138	broad.mit.edu	37	5	177547423	177547423	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:177547423C>A	ENST00000274605.5	+	3	934	c.575C>A	c.(574-576)tCc>tAc	p.S192Y		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	192						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGACTCCTCCAGTGGGGGT	0.711000													18	30					2.35188e-11	2.53916e-11	1	1	0
CROT	54677	broad.mit.edu	37	7	86998691	86998691	+	Splice_Site	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:86998691G>C	ENST00000331536.3	+	7	732		c.e7-1		CROT_ENST00000442291.1_Splice_Site|CROT_ENST00000419147.2_Splice_Site	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TCTGTTTCCAGAGAGTGAAGG	0.418000													37	45					0	0	1	0	0
RASSF7	8045	broad.mit.edu	37	11	561798	561798	+	Silent	SNP	G	G	T	rs143459467	byFrequency	TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:561798G>T	ENST00000397583.3	+	2	463	c.30G>T	c.(28-30)ctG>ctT	p.L10L	RASSF7_ENST00000524468.1_Intron|RASSF7_ENST00000454668.2_Silent_p.L10L|RASSF7_ENST00000397582.3_Silent_p.L10L|RASSF7_ENST00000431809.1_Silent_p.L10L|RASSF7_ENST00000344375.4_Silent_p.L10L	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	10	Ras-associating.				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCATGGAGCTGAAGGTGTGGG	0.622000													11	29					3.86212e-05	3.9711e-05	1	1	0
VAMP7	6845	broad.mit.edu	37	X	155171703	155171703	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chrX:155171703G>C	ENST00000262640.6	+	7	766	c.683G>C	c.(682-684)aGa>aCa	p.R228T	VAMP7_ENST00000286448.6_3'UTR	NM_001185183.1	NP_001172112.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	0					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CATACTGACAGATGGTATCTG	0.383000													5	10					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46472003	46472003	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:46472003G>A	ENST00000361297.2	+	8	1121	c.838G>A	c.(838-840)Gag>Aag	p.E280K	MAST2_ENST00000372009.2_Missense_Mutation_p.E280K	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	280					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TTTCAGCACAGAGAGCGTACC	0.567000													29	61					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154864995	154864995	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:154864995G>A	ENST00000460393.1	+	15	1599	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	MME_ENST00000360490.2_Silent_p.L493L|MME_ENST00000462745.1_Silent_p.L493L|MME_ENST00000492661.1_Silent_p.L493L|MME_ENST00000493237.1_Silent_p.L493L	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	493					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATAACAAACTGAATAATGAGT	0.348000													24	39					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135116296	135116296	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:135116296G>A	ENST00000393229.3	+	7	1998		c.e7-1		NTNG2_ENST00000490694.1_3'UTR|NTNG2_ENST00000360670.3_Splice_Site|NTNG2_ENST00000393228.4_Splice_Site	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2						axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGTCCGTCCAGAGTGTAACTG	0.697000													9	18					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39645947	39645947	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:39645947G>C	ENST00000393986.2	-	2	232	c.20C>G	c.(19-21)tCt>tGt	p.S7C	KRT36_ENST00000328119.6_Missense_Mutation_p.S57C			O76013	KRT36_HUMAN	keratin 36	57	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCCAAGGCCAGAGAGGCCCGA	0.637000													19	63					0	0	1	0	0
TRIM73	375593	broad.mit.edu	37	7	75028290	75028290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:75028290G>T	ENST00000323819.3	+	2	273	c.73G>T	c.(73-75)Gag>Tag	p.E25*	TRIM73_ENST00000447409.2_Nonsense_Mutation_p.E25*|TRIM73_ENST00000437796.1_Nonsense_Mutation_p.E25*|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000430211.1_Nonsense_Mutation_p.E25*	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN	tripartite motif containing 73	25						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGTCTTCAAGGAGTCCCTAAT	0.612000													10	42					2.27111e-07	2.37712e-07	1	1	0
SH3GL1	6455	broad.mit.edu	37	19	4365533	4365533	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:4365533G>A	ENST00000269886.3	-	4	455	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	SH3GL1_ENST00000417295.2_Intron|SH3GL1_ENST00000598564.1_Intron	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	93	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CACTCGCCCAGAAGCCCCTCC	0.652000			T	MLL	AL								43	67					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													4	50					0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916712	150916712	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:150916712G>A	ENST00000309180.5	-	3	692	c.462C>T	c.(460-462)atC>atT	p.I154I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	154						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATGTCTTTGATGGGAATCA	0.363000													26	59					0	0	1	0	0
RNF44	22838	broad.mit.edu	37	5	175958610	175958610	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:175958610G>A	ENST00000274811.4	-	4	843	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	RNF44_ENST00000537487.1_Silent_p.L26L	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	107	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGTAGGACAGAGGGACAGGT	0.607000													3	15					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120180985	120180985	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:120180985G>A	ENST00000450251.1	+	6	1124	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	USP53_ENST00000274030.6_Missense_Mutation_p.E194K			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	194					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CAATGAGGTTGAAAGAATGTT	0.338000													20	39					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16358385	16358385	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:16358385C>T	ENST00000334133.4	-	10	1959	c.1687G>A	c.(1687-1689)Gac>Aac	p.D563N	RFTN1_ENST00000432519.1_Missense_Mutation_p.D527N|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000435829.2_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000606098.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	563						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GCATCCCCGTCCCTGGCATCC	0.562000													45	92					0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48193441	48193441	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:48193441G>T	ENST00000330175.4	-	5	830	c.513C>A	c.(511-513)gaC>gaA	p.D171E	SAMD14_ENST00000503131.1_Missense_Mutation_p.D171E|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	171										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GAGGACTGGCGTCACGGCTGT	0.607000													19	23					3.62473e-10	3.87747e-10	1	1	0
WDR73	84942	broad.mit.edu	37	15	85189506	85189506	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:85189506G>C	ENST00000434634.2	-	6	486	c.426C>G	c.(424-426)ttC>ttG	p.F142L	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	142										cervix(1)|large_intestine(1)|lung(1)	3						CCAATGTGGAGAAGACGGCCA	0.562000													16	17					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20107215	20107215	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:20107215G>C	ENST00000294543.6	-	4	278	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	TMCO4_ENST00000375127.1_Missense_Mutation_p.Q13E|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q13E	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.607000													6	14					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873139	55873139	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:55873139G>A	ENST00000313503.1	+	1	621	c.621G>A	c.(619-621)ctG>ctA	p.L207L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTTCCACCCTGATGGTGTCCC	0.388000										HNSCC(53;0.14)			29	89					0	0	1	0	0
SMIM19	114926	broad.mit.edu	37	8	42407698	42407698	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:42407698G>A	ENST00000438528.3	+	4	320	c.271G>A	c.(271-273)Gac>Aac	p.D91N	SMIM19_ENST00000490331.2_Missense_Mutation_p.D91N|SMIM19_ENST00000416469.2_Missense_Mutation_p.D91N|SMIM19_ENST00000414154.2_Missense_Mutation_p.D91N|SMIM19_ENST00000417410.2_Missense_Mutation_p.D91N	NM_001135676.1	NP_001129148.1			small integral membrane protein 19																		AAGAAAGTACGACTATCAGCA	0.338000													7	53					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1233483	1233483	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:1233483G>A	ENST00000590083.1	-	8	1213	c.921C>T	c.(919-921)ttC>ttT	p.F307F	C19orf26_ENST00000215376.6_Silent_p.F301F|C19orf26_ENST00000382477.2_Silent_p.F327F			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	327						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTGACCTTGAAATAGGGGC	0.682000										HNSCC(14;0.022)			5	7					0	0	1	0	0
ERCC5	2073	broad.mit.edu	37	13	103527837	103527837	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr13:103527837G>A	ENST00000355739.4	+	15	4568	c.3145G>A	c.(3145-3147)Gat>Aat	p.D1049N	ERCC5_ENST00000472247.1_3'UTR|ERCC5_ENST00000375954.1_Missense_Mutation_p.D282N	NM_000123.3	NP_000114			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGAGCTACTTGATAAGGCAAA	0.398000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				35	87					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9317845	9317845	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:9317845G>A	ENST00000378501.2	+	2	172	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	PLCB4_ENST00000278655.4_Missense_Mutation_p.E53K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E53K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E53K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E53K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E53K|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	53					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATGGAGAAGTGAAGGCAAGGT	0.418000													21	27					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49053629	49053629	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:49053629G>T	ENST00000440857.1	-	10	1492	c.790C>A	c.(790-792)Cct>Act	p.P264T	DALRD3_ENST00000441576.2_Missense_Mutation_p.P431T|DALRD3_ENST00000313778.5_Missense_Mutation_p.P264T|DALRD3_ENST00000395462.4_Missense_Mutation_p.P264T|DALRD3_ENST00000341949.4_Missense_Mutation_p.P431T			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	431					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGCTCACAGGAGGAAAAGTG	0.507000													20	36					1.9806e-07	2.07678e-07	1	1	0
SLC47A1	55244	broad.mit.edu	37	17	19463549	19463549	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:19463549C>T	ENST00000270570.4	+	11	1056	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000395585.1_Silent_p.L324L|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000457293.1_Silent_p.L324L|SLC47A1_ENST00000571335.1_Silent_p.L129L|SLC47A1_ENST00000436810.2_Silent_p.L301L	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	324						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AGGAAACGCTCTGGGTGCTGG	0.542000													4	1					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:7578479G>A	ENST00000420246.2	-	5	583	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGGCGGGGGTGTGGAATCA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	21					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64064640	64064640	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:64064640C>A	ENST00000538767.1	+	3	416	c.164C>A	c.(163-165)tCt>tAt	p.S55Y	KCNK4_ENST00000422670.2_Silent_p.I121I|KCNK4_ENST00000539216.1_Silent_p.I121I|KCNK4_ENST00000394525.2_Silent_p.I121I|KCNK4_ENST00000539651.1_3'UTR|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						TCTTCTGCATCTTTTATGCGC	0.647000													10	45					1.76689e-08	1.86951e-08	1	1	0
HARS	3035	broad.mit.edu	37	5	140070805	140070805	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:140070805C>A	ENST00000504156.1	-	1	804	c.85G>T	c.(85-87)Gag>Tag	p.E29*	HARS_ENST00000307633.3_Nonsense_Mutation_p.E29*|HARS_ENST00000431330.2_Nonsense_Mutation_p.E29*|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000457527.2_Nonsense_Mutation_p.E29*|HARS_ENST00000438307.2_Nonsense_Mutation_p.E29*|HARS_ENST00000415192.2_Nonsense_Mutation_p.E29*	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	29	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTCACCAGCTCGGCGCTGGCC	0.627000													5	9					1.23904e-05	1.28306e-05	1	1	0
FAM73B	84895	broad.mit.edu	37	9	131832238	131832238	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:131832238C>G	ENST00000358369.4	+	15	1795	c.1569C>G	c.(1567-1569)ttC>ttG	p.F523L	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	523						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TCTGTGCTTTCTTCAAGGTAA	0.572000													71	157					0	0	1	0	0
SYCN	342898	broad.mit.edu	37	19	39694638	39694638	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:39694638C>T	ENST00000318438.6	-	1	268	c.257G>A	c.(256-258)tGc>tAc	p.C86Y		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	86					exocytosis	transport vesicle membrane				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTGAGCTCGCAGCGCGGGGC	0.697000													3	17					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21583094	21583094	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:21583094G>C	ENST00000328843.6	+	1	262	c.231G>C	c.(229-231)tgG>tgC	p.W77C	DNAH11_ENST00000409508.3_Missense_Mutation_p.W77C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	77	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAGAAATGGAGCCAGTATT	0.647000									Kartagener syndrome				4	1					0	0	1	0	0
KLHDC2	23588	broad.mit.edu	37	14	50245145	50245145	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr14:50245145G>A	ENST00000298307.5	+	6	1427	c.566G>A	c.(565-567)aGa>aAa	p.R189K	KLHDC2_ENST00000557247.1_Missense_Mutation_p.R189K|KLHDC2_ENST00000554589.1_Missense_Mutation_p.R189K	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	189						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					AGTCATCCAAGAGGATGGAAT	0.323000													23	22					0	0	1	0	0
POLR2F	5435	broad.mit.edu	37	22	38352811	38352811	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:38352811G>C	ENST00000442738.2	+	2	177	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	POLR2F_ENST00000407936.1_Missense_Mutation_p.E18Q|POLR2F_ENST00000470701.1_Missense_Mutation_p.E13Q|POLR2F_ENST00000460648.1_Missense_Mutation_p.E18Q|POLR2F_ENST00000606538.1_Missense_Mutation_p.E18Q|POLR2F_ENST00000405557.1_Missense_Mutation_p.E18Q|POLR2F_ENST00000488684.1_Missense_Mutation_p.E18Q	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	18					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					TGATGTGGAGGAGGATGAAGG	0.502000													9	24					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27599570	27599570	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:27599570G>A	ENST00000233575.2	+	15	1619	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	SNX17_ENST00000542478.1_Missense_Mutation_p.G252E|SNX17_ENST00000537606.1_Missense_Mutation_p.G441E|SNX17_ENST00000543024.1_Missense_Mutation_p.G252E	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	466					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGGCATTGGAGATGAGGAT	0.562000													8	18					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101550773	101550773	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr15:101550773G>C	ENST00000284395.5	+	9	1499	c.1099G>C	c.(1099-1101)Gaa>Caa	p.E367Q	LRRK1_ENST00000388948.3_Missense_Mutation_p.E370Q			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	370					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTGTTCGAAGAAGAAAATGG	0.338000													24	41					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34568444	34568444	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:34568444G>C	ENST00000373973.3	+	4	480	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	CNBD2_ENST00000538900.1_Missense_Mutation_p.E103Q|CNBD2_ENST00000349339.1_Missense_Mutation_p.E103Q					cyclic nucleotide binding domain containing 2																		AACAGAGGATGAGATCCAGGC	0.547000													15	35					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43898247	43898247	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:43898247C>T	ENST00000562955.1	+	37	5331	c.5331C>T	c.(5329-5331)ctC>ctT	p.L1777L	SZT2_ENST00000372442.1_Silent_p.L935L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1834						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTGTCCCCCTCATCAGCCTGC	0.607000													24	59					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257871	9257871	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:9257871G>T	ENST00000262126.4	+	9	4846	c.4606G>T	c.(4606-4608)Gat>Tat	p.D1536Y	ANKRD12_ENST00000383440.2_Missense_Mutation_p.D1513Y|ANKRD12_ENST00000400020.3_Missense_Mutation_p.D1513Y	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTCTGCTTTAGATACTGATAA	0.328000													15	28					3.27435e-08	3.44575e-08	1	1	0
OR2M3	127062	broad.mit.edu	37	1	248367166	248367166	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:248367166G>A	ENST00000456743.1	+	1	835	c.797G>A	c.(796-798)cGc>cAc	p.R266H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATCTGATCGCTCCCCAACA	0.502000													48	149					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152420078	152420078	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:152420078G>C	ENST00000440973.1	+	10	2135	c.1765G>C	c.(1765-1767)Gag>Cag	p.E589Q	ESR1_ENST00000206249.3_Missense_Mutation_p.E589Q|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.E589Q|ESR1_ENST00000406599.1_Missense_Mutation_p.E328Q|ESR1_ENST00000456483.2_Missense_Mutation_p.E477Q|ESR1_ENST00000443427.1_Missense_Mutation_p.E589Q	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	589	Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GGGGGAGGCAGAGGGTTTCCC	0.552000													15	6					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21159441	21159441	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:21159441G>C	ENST00000255882.6	-	11	1267	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C	PI4KA_ENST00000572273.1_Missense_Mutation_p.S336C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	336					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTTCACAAAAGAGGTCGGGAG	0.512000													5	35					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916150	126916150	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:126916150C>T	ENST00000398112.1	+	2	862	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TTCAGAGCTCCGCCCTCTGCC	0.637000													4	17					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70730032	70730032	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:70730032C>G	ENST00000354185.4	+	8	1410	c.1312C>G	c.(1312-1314)Caa>Gaa	p.Q438E		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	438	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TAGTGGTCATCAAGGACGCAC	0.448000													21	39					0	0	1	0	0
XBP1	7494	broad.mit.edu	37	22	29193079	29193079	+	Missense_Mutation	SNP	C	C	G	rs11554255		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:29193079C>G	ENST00000216037.6	-	3	511	c.439G>C	c.(439-441)Gag>Cag	p.E147Q	XBP1_ENST00000403532.3_Missense_Mutation_p.E152Q|XBP1_ENST00000344347.5_Missense_Mutation_p.E147Q|XBP1_ENST00000405219.3_Missense_Mutation_p.E97Q	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	147					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						GCTTCCGCCTCCTCTTCAGCA	0.473000													5	42					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49053092	49053092	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:49053092G>A	ENST00000440857.1	-	12	1847	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	DALRD3_ENST00000441576.2_Missense_Mutation_p.S512F|DALRD3_ENST00000313778.5_Silent_p.L354L|WDR6_ENST00000608424.1_3'UTR|WDR6_ENST00000395474.3_3'UTR|DALRD3_ENST00000395462.4_Silent_p.L354L|DALRD3_ENST00000341949.4_Silent_p.L521L			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	0					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACAGCTCTCAGAAGCTGCAGG	0.562000													17	41					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52779303	52779303	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:52779303C>G	ENST00000216862.3	-	7	1336	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q	CYP24A1_ENST00000395955.3_Missense_Mutation_p.E315Q|CYP24A1_ENST00000395954.3_Missense_Mutation_p.E173Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	315					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCATACAATTCTTTCTTTGAA	0.448000													15	26					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333694	28333694	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:28333694C>T	ENST00000377255.3	+	7	1546	c.1249C>T	c.(1249-1251)Cac>Tac	p.H417Y	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.H417Y|ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.H269Y	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	417					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CCTTGAACATCACAGAATCCA	0.512000													6	43					0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1412673	1412673	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:1412673G>A	ENST00000308647.7	+	2	341	c.225G>A	c.(223-225)ctG>ctA	p.L75L	ATAD3B_ENST00000378741.3_5'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	75							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGGAGGCCCTGAATCTGGCGC	0.617000													8	19					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622854	64622854	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:64622854C>G	ENST00000320631.3	-	4	1274	c.1020G>C	c.(1018-1020)caG>caC	p.Q340H	EHD1_ENST00000359393.2_Missense_Mutation_p.Q340H	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	340					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GCTCAATCTTCTGGTAGATCT	0.557000											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	37					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92712659	92712659	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:92712659C>T	ENST00000370360.3	-	18	1709	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	GLMN_ENST00000534881.1_Missense_Mutation_p.G529E	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	543					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GATCTCTTCTCCACTTACAGT	0.358000									Multiple Glomus Tumors (of the Skin), Familial				27	64					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49053134	49053134	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:49053134G>C	ENST00000440857.1	-	12	1805	c.1103C>G	c.(1102-1104)tCg>tGg	p.S368W	DALRD3_ENST00000441576.2_Missense_Mutation_p.S498W|DALRD3_ENST00000313778.5_Missense_Mutation_p.R340G|WDR6_ENST00000608424.1_3'UTR|WDR6_ENST00000395474.3_3'UTR|DALRD3_ENST00000395462.4_Missense_Mutation_p.R340G|DALRD3_ENST00000341949.4_Missense_Mutation_p.R507G			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	73					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGGTGTGGTCGAGGCTCCTGA	0.567000													18	30					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196718121	196718121	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:196718121G>A	ENST00000312428.6	-	46	8827	c.8727C>T	c.(8725-8727)ctC>ctT	p.L2909L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2909					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CGGAGGAAATGAGGATATCCC	0.517000													8	22					0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227079026	227079026	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:227079026C>G	ENST00000366782.1	+	10	1533	c.1033C>G	c.(1033-1035)Cag>Gag	p.Q345E	PSEN2_ENST00000391872.2_Missense_Mutation_p.Q345E|PSEN2_ENST00000366783.3_Missense_Mutation_p.Q312E|PSEN2_ENST00000340188.4_Missense_Mutation_p.Q279E|PSEN2_ENST00000422240.2_Missense_Mutation_p.Q312E|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000472139.2_Missense_Mutation_p.Q168E			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	312					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CCCCTCCTCTCAGGGTGCCCT	0.627000													4	13					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854409	53854409	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:53854409G>A	ENST00000458035.1	+	4	598	c.481G>A	c.(481-483)Ggt>Agt	p.G161S	ZNF845_ENST00000595091.1_Missense_Mutation_p.G161S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGGGAAAATTGGTAATCAAGT	0.408000													68	120					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82891615	82891615	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:82891615G>C	ENST00000306270.7	-	26	4255	c.3706C>G	c.(3706-3708)Cag>Gag	p.Q1236E	IBTK_ENST00000510291.1_Missense_Mutation_p.Q1221E|IBTK_ENST00000503631.1_Missense_Mutation_p.Q1035E	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1236					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)		TTTGGTGCCTGAGAATTTTCA	0.303000													8	23					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244813	56244813	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:56244813C>T	ENST00000332836.2	-	2	411	c.384G>A	c.(382-384)atG>atA	p.M128I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	128						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACTCATTTTTCATGGTTTCTT	0.413000													44	82					0	0	1	0	0
PRSS21	10942	broad.mit.edu	37	16	2871483	2871483	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:2871483C>T	ENST00000455114.1	+	6	922	c.816C>T	c.(814-816)atC>atT	p.I272I	PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000450020.3_Silent_p.I260I|PRSS21_ENST00000005995.3_Silent_p.I274I	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	274	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						ACACCAATATCAGCCACCACT	0.577000													7	13					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79176112	79176112	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:79176112G>C	ENST00000269392.4	-	7	963	c.716C>G	c.(715-717)tCa>tGa	p.S239*	AZI1_ENST00000575907.1_Nonsense_Mutation_p.S239*|AZI1_ENST00000450824.2_Nonsense_Mutation_p.S239*|AZI1_ENST00000374782.3_Nonsense_Mutation_p.S239*|AZI1_ENST00000570482.2_5'UTR	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	239					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTCCGGGCTGAGTGGGTGGC	0.627000													13	48					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36688106	36688106	+	Missense_Mutation	SNP	C	C	T	rs80338831		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:36688106C>T	ENST00000216181.5	-	31	4500	c.4270G>A	c.(4270-4272)Gac>Aac	p.D1424N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1424			D -> H (in FTNS and MHA).|D -> N (in FTNS, MHA, SBS and MPSD; affects protein stability).|D -> Y (in MHA).		actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACCAGCAGGTCGTCCAGCTCC	0.632000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				18	27					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141874461	141874461	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:141874461G>C	ENST00000522684.1	-	5	629	c.400C>G	c.(400-402)Cta>Gta	p.L134V	PTK2_ENST00000340930.3_Missense_Mutation_p.L134V|PTK2_ENST00000517887.1_Missense_Mutation_p.L178V|PTK2_ENST00000535192.1_Missense_Mutation_p.L134V|PTK2_ENST00000395218.2_Missense_Mutation_p.L134V|PTK2_ENST00000519419.1_Missense_Mutation_p.L178V|PTK2_ENST00000521059.1_Missense_Mutation_p.L134V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	134	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AACTGGTTTAGAAATCCTTTT	0.284000													36	44					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52361990	52361990	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:52361990G>A	ENST00000420323.2	+	6	1092	c.831G>A	c.(829-831)ccG>ccA	p.P277P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	277	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACCTGTCCCGGGAAAAGCCC	0.557000													3	34					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122354831	122354831	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:122354831C>G	ENST00000483793.1	+	9	1376	c.1336C>G	c.(1336-1338)Cac>Gac	p.H446D	PARP15_ENST00000310366.4_Missense_Mutation_p.H407D|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.H338D|PARP15_ENST00000464300.2_Missense_Mutation_p.H641D			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CAAGAATCCTCACAATCCCAC	0.443000													10	31					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370332	86370332	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr13:86370332C>G	ENST00000400286.2	-	2	910	c.312G>C	c.(310-312)gaG>gaC	p.E104D		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	104						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATGCACCTATCTCAATATCTG	0.358000													29	42					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31287129	31287129	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:31287129T>C	ENST00000597505.1	-	6	978	c.979A>G	c.(979-981)Ata>Gta	p.I327V	DCDC1_ENST00000452803.1_Missense_Mutation_p.I327V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	327					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTCATTCTTATTGTACAAGTA	0.259000													9	57					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90491272	90491272	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:90491272C>T	ENST00000369393.3	-	10	1604	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	MDN1_ENST00000428876.1_Missense_Mutation_p.D497N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	497					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCAGGTGATCAACCACTGCC	0.413000													22	88					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516338	140516338	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:140516338C>G	ENST00000231134.5	+	1	1539	c.1322C>G	c.(1321-1323)tCc>tGc	p.S441C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		441	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S441Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCTGGTCTCCGACGTCAAT	0.592000													27	54					0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	844137	844137	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:844137C>T	ENST00000455171.2	+	14	2031	c.1970C>T	c.(1969-1971)tCa>tTa	p.S657L	CHTF18_ENST00000262315.9_Missense_Mutation_p.S629L|CHTF18_ENST00000317063.6_Intron			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	629					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				ACCTCCGCCTCACAGCGATTC	0.687000													8	30					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40820349	40820349	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:40820349G>C	ENST00000396617.3	-	8	928	c.338C>G	c.(337-339)tCt>tGt	p.S113C	MKL1_ENST00000355630.3_Missense_Mutation_p.S113C|MKL1_ENST00000402042.1_Missense_Mutation_p.S113C|MKL1_ENST00000407029.1_Missense_Mutation_p.S113C	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	113	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ATCGAAGGAAGAGCTGTCTGC	0.597000			T	RBM15	acute megakaryocytic leukemia								23	27					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10416050	10416050	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:10416050C>T	ENST00000226207.5	-	11	1050	c.956G>A	c.(955-957)gGg>gAg	p.G319E	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	319	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTGATCTCCCCTTGACTGAC	0.403000													27	49					0	0	1	0	0
RABAC1	10567	broad.mit.edu	37	19	42462973	42462973	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:42462973C>G	ENST00000222008.6	-	2	281	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	RABAC1_ENST00000601078.1_5'UTR|RABAC1_ENST00000601891.1_Missense_Mutation_p.E62Q	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	62						cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding			central_nervous_system(1)|kidney(1)|prostate(1)	3						TGGCACAGCTCTCCCAGGTTG	0.662000													9	17					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208213028	208213028	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:208213028C>T	ENST00000367033.3	-	24	5195	c.4438G>A	c.(4438-4440)Gag>Aag	p.E1480K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1480					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TAGCGGGCCTCGCCCGTGATG	0.612000													17	55					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118243303	118243303	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:118243303C>T	ENST00000252108.3	+	6	774	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F	UBE4A_ENST00000431736.2_Missense_Mutation_p.L215F	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	215					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AACAGTTCTTCTCACCCCAGA	0.463000													27	39					0	0	1	0	0
ARL4D	379	broad.mit.edu	37	17	41477462	41477462	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:41477462G>A	ENST00000320033.4	+	2	569	c.362G>A	c.(361-363)cGg>cAg	p.R121Q		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	121					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CGAATCAGCCGGGCCTCGGAC	0.652000													18	15					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335566	20335566	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:20335566G>A	ENST00000302555.5	-	3	256	c.107C>T	c.(106-108)cCc>cTc	p.P36L	GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.P36L			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	36						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCTTCAATGGGGTTTCCATA	0.522000													12	30					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409402	59409402	+	Silent	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:59409402G>T	ENST00000301645.3	-	3	806	c.669C>A	c.(667-669)ctC>ctA	p.L223L		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	223					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGTGAATGGGGAGGCCTGCTA	0.493000									Neonatal Giant Cell Hepatitis				22	52					3.62473e-10	3.87747e-10	1	1	0
UBR4	23352	broad.mit.edu	37	1	19481501	19481501	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:19481501G>T	ENST00000375267.2	-	44	6372	c.6369C>A	c.(6367-6369)ttC>ttA	p.F2123L	UBR4_ENST00000375226.2_Missense_Mutation_p.F2123L|UBR4_ENST00000375254.3_Missense_Mutation_p.F2123L|UBR4_ENST00000375217.2_Missense_Mutation_p.F2123L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2123					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AATAGCTGAAGAACAACATCT	0.502000													23	89					1.96895e-08	2.07952e-08	1	1	0
COL17A1	1308	broad.mit.edu	37	10	105793736	105793736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:105793736C>A	ENST00000353479.5	-	52	4413	c.4123G>T	c.(4123-4125)Gag>Tag	p.E1375*	COL17A1_ENST00000369733.3_Nonsense_Mutation_p.E1293*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1375	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACAGCCAGCTCATTGTAATCC	0.587000													28	49					1.2476e-16	1.36208e-16	1	1	0
SNX17	9784	broad.mit.edu	37	2	27597027	27597027	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:27597027G>T	ENST00000233575.2	+	6	730	c.508G>T	c.(508-510)Gat>Tat	p.D170Y	SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000537606.1_Missense_Mutation_p.D145Y|SNX17_ENST00000543024.1_5'UTR	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	170	Ras-associating.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAAAAGAGGATGGAGCCTT	0.483000													27	57					4.22769e-11	4.55591e-11	1	1	0
MST1	4485	broad.mit.edu	37	3	49723041	49723041	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:49723041G>A	ENST00000449682.2	-	11	1736	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	445					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGTCGCAGGGCACAGTAG	0.597000													7	29					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78354694	78354694	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:78354694G>A	ENST00000582970.1	+	56	13847	c.13704G>A	c.(13702-13704)gtG>gtA	p.V4568V	RNF213_ENST00000508628.2_Silent_p.V4617V|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.V2641V|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGACGTGGTGACATGTGACC	0.592000													48	136					0	0	1	0	0
C2orf47	79568	broad.mit.edu	37	2	200820957	200820957	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:200820957G>C	ENST00000295079.2	+	2	758	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	C2orf47_ENST00000392290.1_Missense_Mutation_p.E146Q	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	146						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						AGAGTTCTCCGAGGGAGCGAA	0.468000													31	63					0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75902691	75902691	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:75902691C>A	ENST00000322563.3	-	4	931	c.807G>T	c.(805-807)aaG>aaT	p.K269N	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	269					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GTTCCGAGTCCTTCACAGGCC	0.597000													4	58					0.00024832	0.00025443	1	1	0
CDK10	8558	broad.mit.edu	37	16	89753143	89753143	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:89753143G>C	ENST00000353379.7	+	1	68	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000331006.8_Intron|CDK10_ENST00000505473.1_5'UTR	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	9					negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TCTGGAGTGCGAGCAGATCCG	0.701000													6	3					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129907316	129907316	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:129907316C>T	ENST00000368654.3	-	13	3163	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	MKI67_ENST00000368653.3_Missense_Mutation_p.E570K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	930					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTATATGTCTCAAAAGGTCTT	0.358000													29	49					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816769	77816769	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:77816769C>G	ENST00000334306.2	-	1	2233	c.2234G>C	c.(2233-2235)aGa>aCa	p.R745T		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	745																	CTTGGCCTTTCTGGTAGGGGA	0.493000													77	69					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53472452	53472452	+	RNA	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:53472452C>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TAAGGTTTCTCTCCAGTATGA	0.378000													4	5					0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16143376	16143376	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:16143376G>A	ENST00000349606.4	+	3	551	c.47G>A	c.(46-48)gGg>gAg	p.G16E	MYLIP_ENST00000356840.3_Missense_Mutation_p.G197E			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	197	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GATAGCGAAGGGCAGAAACTG	0.448000													7	50					0	0	1	0	0
THAP7	80764	broad.mit.edu	37	22	21354379	21354379	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:21354379C>G	ENST00000215742.4	-	4	894	c.720G>C	c.(718-720)tgG>tgC	p.W240C	THAP7_ENST00000399133.2_Missense_Mutation_p.W240C	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	240					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTCGCCGCTTCCAGAGTAAGG	0.667000													5	8					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92712694	92712694	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:92712694C>T	ENST00000370360.3	-	18	1674	c.1593G>A	c.(1591-1593)caG>caA	p.Q531Q	GLMN_ENST00000534881.1_Silent_p.Q517Q	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	531					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		CTTTAGATTTCTGGGCCTCTG	0.343000									Multiple Glomus Tumors (of the Skin), Familial				22	50					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51926777	51926777	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:51926777C>G	ENST00000371733.3	-	8	643	c.547G>C	c.(547-549)Gat>Cat	p.D183H	EPS15_ENST00000371730.2_Missense_Mutation_p.D183H	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	183	EF-hand 1.|EH 2.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GCAAACTCATCTCTGTCAAGC	0.313000			T	MLL	ALL								12	29					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117725507	117725507	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:117725507G>C	ENST00000368508.3	-	5	572	c.374C>G	c.(373-375)tCt>tGt	p.S125C	ROS1_ENST00000368507.3_Missense_Mutation_p.S134C|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	125	Fibronectin type-III 1.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTTACTCCAGAGAAGTTTGC	0.428000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								9	45					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38679281	38679281	+	Silent	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr14:38679281C>G	ENST00000267377.2	+	3	1304	c.687C>G	c.(685-687)ctC>ctG	p.L229L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	229					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ACACATTTCTCATGGGCTTCC	0.627000													11	10					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816742	77816742	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr4:77816742C>G	ENST00000334306.2	-	1	2260	c.2261G>C	c.(2260-2262)aGa>aCa	p.R754T		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	754																	GGTGACACTTCTAGATATTTC	0.488000													72	63					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18082149	18082149	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:18082149C>A	ENST00000205890.5	+	66	10896	c.10558C>A	c.(10558-10560)Ctc>Atc	p.L3520I	RP11-258F1.1_ENST00000577847.1_RNA|RP11-258F1.1_ENST00000583062.1_RNA|MYO15A_ENST00000418233.3_3'UTR|MYO15A_ENST00000451725.2_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3520	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGAGAAGCGGCTCACATTGCC	0.602000													5	11					3.59834e-05	3.71297e-05	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52432948	52432948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:52432948C>T	ENST00000420323.2	+	76	12433	c.12172C>T	c.(12172-12174)Cag>Tag	p.Q4058*		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4123					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATGTCCTCTCAGCTGGAGCT	0.557000													17	21					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256606	32256606	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:32256606G>C	ENST00000360482.2	-	16	3378	c.3249C>G	c.(3247-3249)atC>atG	p.I1083M	SPOCD1_ENST00000257100.3_Missense_Mutation_p.I563M|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.I1070M|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1083					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCCAAGCAGAGATTCCCCTTG	0.672000													19	25					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278727	152278727	+	Missense_Mutation	SNP	C	C	G	rs148926091		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:152278727C>G	ENST00000368799.1	-	3	8670	c.8635G>C	c.(8635-8637)Gag>Cag	p.E2879Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2879	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGACCCCTCTGATTGTCCC	0.577000									Ichthyosis				43	153					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74148305	74148305	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:74148305G>C	ENST00000324896.4	+	16	1734	c.1345G>C	c.(1345-1347)Gat>Cat	p.D449H	GTF2I_ENST00000346152.4_Missense_Mutation_p.D428H|GTF2I_ENST00000353920.4_Missense_Mutation_p.D429H|GTF2I_ENST00000416070.1_Missense_Mutation_p.D408H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	449					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TTTACAGCTTGATAAGCCAGC	0.348000													41	78					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131381181	131381181	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:131381181C>G	ENST00000372739.3	+	44	5742	c.5632C>G	c.(5632-5634)Cag>Gag	p.Q1878E	SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q1873E|SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q1878E	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1873					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTTGGAATATCAGCAGTTTGT	0.468000													26	61					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069045	29069045	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:29069045C>T	ENST00000373812.3	+	4	625	c.263C>T	c.(262-264)tCt>tTt	p.S88F	YTHDF2_ENST00000542507.1_Missense_Mutation_p.S88F|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.S38F	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	88					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTAACTTCTTATGGACAG	0.517000													27	62					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73343021	73343021	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr13:73343021C>T	ENST00000377767.4	-	14	1885	c.1785G>A	c.(1783-1785)ttG>ttA	p.L595L	DIS3_ENST00000545453.1_Silent_p.L433L|DIS3_ENST00000377780.4_Silent_p.L565L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	595					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AATCAATTCTCAACTGAGCTT	0.328000										Multiple Myeloma(4;0.011)			15	43					0	0	1	0	0
DERL3	91319	broad.mit.edu	37	22	24180580	24180580	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:24180580C>T	ENST00000404056.1	-	3	317	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	DERL3_ENST00000476077.1_Missense_Mutation_p.D96N|DERL3_ENST00000406855.3_Missense_Mutation_p.D96N|DERL3_ENST00000318109.7_Missense_Mutation_p.D96N			Q96Q80	DERL3_HUMAN	derlin 3	204					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						AAGACGAAGTCGGCCGTGCGG	0.647000													3	5					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68260431	68260431	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr14:68260431C>G	ENST00000347230.4	-	14	2585	c.2447G>C	c.(2446-2448)aGa>aCa	p.R816T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R816T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	816					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGGGTGCAATCTACTGTGCAG	0.537000													7	13					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155224483	155224483	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:155224483C>G	ENST00000361361.2	-	1	695	c.186G>C	c.(184-186)gaG>gaC	p.E62D	FAM189B_ENST00000368368.3_Missense_Mutation_p.E62D|FAM189B_ENST00000350210.2_Missense_Mutation_p.E62D|FAM189B_ENST00000472550.1_5'UTR	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	62						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTTGATGCTCTCGGTGGTGG	0.652000													11	19					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65410012	65410012	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:65410012C>T	ENST00000394224.3	+	4	1182	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	SIPA1_ENST00000534313.1_Silent_p.L296L|SIPA1_ENST00000527525.1_Silent_p.L296L|SIPA1_ENST00000394227.3_Silent_p.L296L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	296					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AAGGAAACTTCTGGAGCACGT	0.672000													4	7					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147490	129147490	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chrX:129147490C>G	ENST00000540052.1	+	3	786	c.742C>G	c.(742-744)Cct>Gct	p.P248A	BCORL1_ENST00000303743.5_Missense_Mutation_p.P248A|BCORL1_ENST00000218147.7_Missense_Mutation_p.P248A|BCORL1_ENST00000359304.2_Missense_Mutation_p.P248A	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	248	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGTTCCAGCTCCTTCCCCTCC	0.612000													33	23					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20167510	20167510	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:20167510G>C	ENST00000263754.4	+	10	1982	c.1527G>C	c.(1525-1527)aaG>aaC	p.K509N		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	509	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AACCAAACAAGAAGATCCTGA	0.527000													14	24					0	0	1	0	0
ICA1L	130026	broad.mit.edu	37	2	203682163	203682163	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:203682163G>A	ENST00000392237.2	-	7	819	c.662C>T	c.(661-663)tCt>tTt	p.S221F	ICA1L_ENST00000358299.2_Missense_Mutation_p.S221F	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	221	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGCGAATGAGATAGCATATT	0.408000													21	35					0	0	1	0	0
STOML2	30968	broad.mit.edu	37	9	35103069	35103069	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:35103069C>T	ENST00000356493.5	-	1	85	c.23G>A	c.(22-24)gGc>gAc	p.G8D	STOML2_ENST00000452248.2_Missense_Mutation_p.G8D	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	8						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGCCCCAGTGCCCCGCGCCGC	0.637000													15	20					0	0	1	0	0
TBKBP1	9755	broad.mit.edu	37	17	45774149	45774149	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:45774149G>A	ENST00000361722.3	+	2	1147	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	100					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						CTCCCTGCTGGAGGTGGAGAA	0.572000													19	25					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065625	32065625	+	Silent	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:32065625G>T	ENST00000375244.3	-	2	552	c.351C>A	c.(349-351)ctC>ctA	p.L117L	TNXB_ENST00000375247.2_Silent_p.L117L|TNXB_ENST00000479795.1_Silent_p.L117L			P22105	TENX_HUMAN	tenascin XB	117					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGTTCCTTGAGCCCCTTCA	0.632000													11	10					0.0692343	0.0698332	1	1	0
SHBG	6462	broad.mit.edu	37	17	7536220	7536220	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:7536220C>A	ENST00000380450.4	+	7	1034	c.1003C>A	c.(1003-1005)Ccc>Acc	p.P335T	SHBG_ENST00000575314.1_Missense_Mutation_p.P277T|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000575903.1_Missense_Mutation_p.P317T|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.P223T|SHBG_ENST00000441599.2_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	335	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	AGGCCTGGCTCCCCTCCTTAA	0.552000											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	5					2.7689e-08	2.91911e-08	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138602099	138602099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:138602099G>T	ENST00000440172.1	-	2	2321	c.2273C>A	c.(2272-2274)tCa>tAa	p.S758*	KIAA1549_ENST00000422774.1_Nonsense_Mutation_p.S758*|KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.S708*	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	758	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGAAATGAGTGAAGACTCAAG	0.473000			O	BRAF	pilocytic astrocytoma								8	17					0.000157383	0.00016154	1	1	0
FAM189B	10712	broad.mit.edu	37	1	155224479	155224479	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:155224479T>C	ENST00000361361.2	-	1	699	c.190A>G	c.(190-192)Atc>Gtc	p.I64V	FAM189B_ENST00000368368.3_Missense_Mutation_p.I64V|FAM189B_ENST00000350210.2_Missense_Mutation_p.I64V|FAM189B_ENST00000472550.1_5'UTR	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	64						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GACCTCTTGATGCTCTCGGTG	0.652000													12	20					0	0	1	0	0
TRIM74	378108	broad.mit.edu	37	7	72436664	72436664	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:72436664C>T	ENST00000285805.3	-	2	224	c.25G>A	c.(25-27)Gag>Aag	p.E9K	TRIM74_ENST00000395244.1_Missense_Mutation_p.E9K	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74	9						intracellular	zinc ion binding			prostate(1)	1						TCCTCCAGCTCCAGCAGGCTC	0.612000													3	14					0	0	1	0	0
PRR5	55615	broad.mit.edu	37	22	45132764	45132764	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:45132764G>A	ENST00000403581.1	+	10	1482	c.873G>A	c.(871-873)gcG>gcA	p.A291A	PRR5_ENST00000006251.7_Silent_p.A259A|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_Silent_p.A268A|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AGCACGAGGCGGAGGGCGCGG	0.711000													15	18					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204000680	204000680	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:204000680C>T	ENST00000449802.1	+	27	4340	c.4007C>T	c.(4006-4008)tCt>tTt	p.S1336F		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1336							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATAGACACTCTTTAGACTCA	0.398000													6	45					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778204	31778204	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr6:31778204C>T	ENST00000375654.4	-	2	1735	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E516K	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	516					response to unfolded protein		ATP binding	p.E516Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGCTCAATCTCCTCCTTGCTC	0.478000													53	72					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353593	37353593	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:37353593G>A	ENST00000217420.1	+	1	489	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	76					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGAGGGCGCTGAAGCGCCCGT	0.667000													14	21					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28909389	28909389	+	Silent	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:28909389C>A	ENST00000395503.4	+	13	1672	c.1488C>A	c.(1486-1488)gtC>gtA	p.V496V	ATP2A1_ENST00000536376.1_Silent_p.V371V|ATP2A1_ENST00000357084.3_Silent_p.V496V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	496					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCATGTCTGTCTATTGCTCCC	0.542000													51	65					8.00217e-19	8.78581e-19	1	1	0
CLPTM1L	81037	broad.mit.edu	37	5	1323913	1323913	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:1323913G>C	ENST00000320895.5	-	12	1526	c.1269C>G	c.(1267-1269)atC>atG	p.I423M	CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.I254M|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.I387M	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	423					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)		TCTTATATTTGATATTCAGGA	0.537000													7	19					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86371723	86371723	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr2:86371723C>A	ENST00000410111.3	-	15	2332	c.1945G>T	c.(1945-1947)Gat>Tat	p.D649Y	IMMT_ENST00000442664.2_Missense_Mutation_p.D648Y|IMMT_ENST00000449247.2_Missense_Mutation_p.D638Y|IMMT_ENST00000409051.2_Missense_Mutation_p.D602Y|IMMT_ENST00000254636.5_Missense_Mutation_p.D550Y	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	649						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGTTTCATCAATCATTGCT	0.532000													13	52					1.61879e-10	1.73804e-10	1	1	0
OR5H6	79295	broad.mit.edu	37	3	97983342	97983342	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:97983342C>T	ENST00000383696.2	+	1	255	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTCACCTTCATATCCCAAT	0.423000													71	143					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6479176	6479176	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr8:6479176G>A	ENST00000344683.5	+	13	2492	c.2416G>A	c.(2416-2418)Gcc>Acc	p.A806T	MCPH1_ENST00000521175.1_3'UTR|CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	806	BRCT 3.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAAGAAGAAAGCCACAGTCAA	0.577000													4	26					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349793	89349793	+	Missense_Mutation	SNP	C	C	G	rs144771099		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:89349793C>G	ENST00000301030.4	-	9	3617	c.3157G>C	c.(3157-3159)Gat>Cat	p.D1053H	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1053H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1053	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAACATTTATCAAATTCTTTG	0.358000													64	37					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899616	45899616	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:45899616G>A	ENST00000418234.2	-	5	869	c.791C>T	c.(790-792)tCg>tTg	p.S264L	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.S264L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	264	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCTGTCTGCGAAGGCTTCTT	0.647000													4	59					0	0	1	0	0
IZUMO2	126123	broad.mit.edu	37	19	50657899	50657899	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:50657899G>A	ENST00000293405.3	-	6	581	c.581C>T	c.(580-582)tCt>tTt	p.S194F		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	194						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CAGAGACACAGAAATGAGGAT	0.612000													20	36					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145883548	145883548	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:145883548C>T	ENST00000296702.5	+	18	2747	c.2709C>T	c.(2707-2709)ttC>ttT	p.F903F	TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Silent_p.F882F	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	903	FF 4.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGAATTTCAAAGCTCTTC	0.348000													7	28					0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55757021	55757021	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:55757021G>A	ENST00000412770.2	-	3	819	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	PPP6R1_ENST00000587283.1_Silent_p.L85L	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	85	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						TCTGAGGTCAGAATCTCGCAG	0.662000													12	14					0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3119256	3119256	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr16:3119256C>T	ENST00000525643.2	+	7	799	c.467C>T	c.(466-468)tCa>tTa	p.S156L	IL32_ENST00000551122.1_Intron|IL32_ENST00000325568.5_Missense_Mutation_p.S156L|IL32_ENST00000526464.2_Missense_Mutation_p.S156L|IL32_ENST00000396887.3_Intron|IL32_ENST00000529550.1_Missense_Mutation_p.S156L|IL32_ENST00000551513.1_Missense_Mutation_p.S193L|IL32_ENST00000533097.2_Missense_Mutation_p.S156L|IL32_ENST00000529699.1_Missense_Mutation_p.S136L|IL32_ENST00000549213.1_Intron|IL32_ENST00000530538.2_Missense_Mutation_p.S156L|IL32_ENST00000528163.2_Missense_Mutation_p.S156L|IL32_ENST00000548476.1_Missense_Mutation_p.S202L|IL32_ENST00000552936.1_Missense_Mutation_p.S180L|IL32_ENST00000552356.1_Missense_Mutation_p.S136L|IL32_ENST00000548246.1_Missense_Mutation_p.S116L|IL32_ENST00000396890.2_Missense_Mutation_p.S202L|IL32_ENST00000530890.1_Missense_Mutation_p.S136L|IL32_ENST00000552664.1_Missense_Mutation_p.S156L|IL32_ENST00000008180.9_Missense_Mutation_p.S136L|IL32_ENST00000531965.1_Missense_Mutation_p.S146L|IL32_ENST00000382213.3_Missense_Mutation_p.S147L|IL32_ENST00000444393.3_Missense_Mutation_p.S156L|IL32_ENST00000534507.1_Missense_Mutation_p.S202L|IL32_ENST00000548652.1_Missense_Mutation_p.S147L|IL32_ENST00000440815.3_Missense_Mutation_p.S156L			P24001	IL32_HUMAN	interleukin 32	202					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TGCTCTCTGTCAGAGCTCTTC	0.582000													18	57					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113638568	113638568	+	Silent	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:113638568C>G	ENST00000361127.5	+	7	1074	c.876C>G	c.(874-876)ctC>ctG	p.L292L		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TACAGCAGCTCTATGTGAGCC	0.438000													22	33					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104165236	104165236	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:104165236G>A	ENST00000020673.5	-	12	2719	c.2193C>T	c.(2191-2193)gtC>gtT	p.V731V	PSD_ENST00000406432.1_Silent_p.V731V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	731					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCGCTTGATGACCTTGGGGT	0.662000													14	46					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476163	17476163	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:17476163C>G	ENST00000252590.4	-	3	1172	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	371						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCTCCGCCTCCCTCTTCTTC	0.622000													43	39					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89735205	89735205	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:89735205A>T	ENST00000343435.5	-	3	570	c.34T>A	c.(34-36)Tgc>Agc	p.C12S	GBP5_ENST00000370459.3_Missense_Mutation_p.C12S|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	12						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCGATGAGGCACATGGGGTCT	0.463000													10	89					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21419864	21419864	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr18:21419864C>T	ENST00000313654.9	+	27	3548	c.3307C>T	c.(3307-3309)Ctt>Ttt	p.L1103F	LAMA3_ENST00000399516.3_Missense_Mutation_p.L1103F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1103	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTGATGTTCTTCCTGGGGT	0.507000													27	49					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67890811	67890811	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:67890811G>C	ENST00000370994.4	-	3	674	c.560C>G	c.(559-561)tCt>tGt	p.S187C	SERBP1_ENST00000361219.6_Missense_Mutation_p.S187C|SERBP1_ENST00000370995.2_Missense_Mutation_p.S187C|SERBP1_ENST00000370990.5_Missense_Mutation_p.S187C	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	187					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						TTTGCCACGAGAATCAAATCC	0.413000													13	29					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	14474136	14474136	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:14474136C>G	ENST00000217246.4	+	4	678	c.283C>G	c.(283-285)Ctt>Gtt	p.L95V	MACROD2_ENST00000310348.4_Missense_Mutation_p.L95V	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	95	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAATGCCAGTCTTCTTGGAGG	0.289000													27	56					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155828	111155828	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chrX:111155828C>T	ENST00000262839.2	-	3	1509	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	197					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TATAGATGTTCAGTCGGGAGC	0.572000													45	16					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58191220	58191220	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:58191220C>G	ENST00000483681.1	-	5	879	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.E100Q|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.E100Q			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	100					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GCATATTGTTCTTTATATGTG	0.363000													40	81					0	0	1	0	0
C10orf11	83938	broad.mit.edu	37	10	77818423	77818423	+	Splice_Site	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:77818423G>C	ENST00000372499.1	+	4	529		c.e4-1		C10orf11_ENST00000593699.1_Splice_Site	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11											endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					TTATCTTCCAGATGCTTTGTT	0.483000													5	134					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70246732	70246732	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:70246732C>G	ENST00000342771.4	+	15	2457	c.2136C>G	c.(2134-2136)ttC>ttG	p.F712L	AUTS2_ENST00000406775.2_Missense_Mutation_p.F688L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	712										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAACTTTGTTCTCTGCCGCTG	0.552000													38	116					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19514624	19514624	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:19514624G>C	ENST00000538714.1	+	25	3272	c.3268G>C	c.(3268-3270)Gag>Cag	p.E1090Q	PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E790Q|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E1095Q|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E1090Q|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E1032Q|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E1014Q|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E1021Q|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E976Q|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E1198Q	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	1032							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CAAAATGCCTGAGGATGTTAC	0.328000													11	14					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368665	145368665	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr1:145368665G>C	ENST00000342960.5	+	84	10678	c.10643G>C	c.(10642-10644)gGa>gCa	p.G3548A	NBPF10_ENST00000369339.3_Missense_Mutation_p.G666A|NBPF10_ENST00000369338.1_Missense_Mutation_p.G664A	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3548										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)		TTCCAGATGGGAGTCATATTC	0.443000													50	408					0	0	1	0	0
C3orf14	57415	broad.mit.edu	37	3	62306162	62306162	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr3:62306162G>A	ENST00000494481.1	+	3	330	c.16G>A	c.(16-18)Gct>Act	p.A6T	C3orf14_ENST00000542214.1_Missense_Mutation_p.A6T|C3orf14_ENST00000486169.1_3'UTR|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000232519.5_Missense_Mutation_p.A6T|C3orf14_ENST00000462069.1_Missense_Mutation_p.A6T			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	6										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		TTCCTTGTTTGCTCAAGAAAT	0.299000													13	31					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36447538	36447538	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:36447538C>G	ENST00000265748.2	+	5	1290	c.1069C>G	c.(1069-1071)Caa>Gaa	p.Q357E	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.Q357E	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	357	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TCTGCAATCTCAATCTAAAGA	0.338000													21	31					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17746329	17746329	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chrX:17746329C>G	ENST00000380060.3	+	6	4378	c.4040C>G	c.(4039-4041)tCa>tGa	p.S1347*	NHS_ENST00000398097.3_Nonsense_Mutation_p.S1191*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1347						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCTGTAAATTCATTCCCTGAA	0.403000													22	12					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687182	21687182	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr20:21687182C>T	ENST00000398485.2	+	2	447	c.393C>T	c.(391-393)atC>atT	p.I131I	PAX1_ENST00000444366.2_Silent_p.I107I|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	131	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGCTGGGCATCCGACCCTGTG	0.667000													8	25					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135929290	135929290	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:135929290C>G	ENST00000372097.5	+	6	1272	c.949C>G	c.(949-951)Caa>Gaa	p.Q317E	GTF3C5_ENST00000342018.8_Missense_Mutation_p.Q248E|GTF3C5_ENST00000372108.5_Missense_Mutation_p.Q317E|GTF3C5_ENST00000372099.6_Missense_Mutation_p.Q308E|GTF3C5_ENST00000372095.5_Missense_Mutation_p.Q192E	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	317						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CAAGATTTATCAAGTCCTCGA	0.453000													20	34					0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123540762	123540762	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr9:123540762G>A	ENST00000608872.1	-	4	739	c.552C>T	c.(550-552)atC>atT	p.I184I	FBXW2_ENST00000340778.5_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2						proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGTGGGTCTGGATGCCATAAA	0.493000													4	12					0	0	1	0	0
RNF121	55298	broad.mit.edu	37	11	71668300	71668300	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:71668300G>A	ENST00000361756.3	+	2	452	c.91G>A	c.(91-93)Gag>Aag	p.E31K	RNF121_ENST00000393713.3_Intron|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000545854.1_Intron|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000530137.1_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	31						integral to membrane	zinc ion binding	p.E31Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						CTCTCCAGAAGAGCAATGGAG	0.443000													13	56					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272480	65272480	+	RNA	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr11:65272480G>A	ENST00000534336.1	+	0	7248					NR_002819.2																						TGGACAAAATGAGGAAAACAG	0.368000													3	12					0	0	1	0	0
FXYD1	5348	broad.mit.edu	37	19	35632085	35632085	+	Silent	SNP	C	C	T			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:35632085C>T	ENST00000588081.1	+	3	202	c.144C>T	c.(142-144)ttC>ttT	p.F48F	LGI4_ENST00000493050.1_Intron|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD1_ENST00000589209.1_Silent_p.F48F|FXYD1_ENST00000588715.1_Silent_p.F48F|FXYD1_ENST00000455515.2_Silent_p.F48F|FXYD1_ENST00000588607.1_Silent_p.F48F|FXYD1_ENST00000351325.4_Silent_p.F48F			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	48					muscle contraction	chloride channel complex|integral to plasma membrane	chloride channel activity			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGATCCTCTTCATCCTGGGCA	0.652000													12	16					0	0	1	0	0
KRT19	3880	broad.mit.edu	37	17	39680732	39680732	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr17:39680732G>C	ENST00000361566.3	-	4	781	c.721C>G	c.(721-723)Ccg>Gcg	p.P241A		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCGGTGCCCGGAGCGGAATCC	0.582000													22	108					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107735684	107735684	+	Missense_Mutation	SNP	C	C	T	rs150197498		TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr7:107735684C>T	ENST00000388781.3	-	12	1542	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	LAMB4_ENST00000414450.2_Missense_Mutation_p.E487K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E487K|LAMB4_ENST00000388780.3_Missense_Mutation_p.E487K|LAMB4_ENST00000418464.1_Missense_Mutation_p.E487K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	487	Laminin EGF-like 4.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTGCATTCTTCGCAGTGTGCT	0.453000													10	27					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45695923	45695923	+	Silent	SNP	G	G	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr5:45695923G>A	ENST00000303230.4	-	1	330	c.273C>T	c.(271-273)taC>taT	p.Y91Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	91	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.Y91*(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCATGAAGCCGTACTGCCGCC	0.701000													3	28					0	0	1	0	0
CBY1	25776	broad.mit.edu	37	22	39067143	39067143	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr22:39067143G>C	ENST00000216029.3	+	4	387	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	85	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					CCAGCAGTTGGAGGAAGAGAA	0.562000													31	49					0	0	1	0	0
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs145490621	by1000genomes	TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938.1	NP_001186867.1			endogenous Bornavirus-like nucleoprotein 1																		CAATGCCTATCAGATCACAGCA	0.455													6	2	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49438036	49438036	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:49438036delT	ENST00000301067.7	-	21	5134	c.5135delA	c.(5134-5136)aagfs	p.K1712fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCAGGCCCCTTTTTCGTGCG	0.617											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	6	---	---	---	---					
PPFIA2	8499	broad.mit.edu	37	12	81671195	81671195	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr12:81671195delT	ENST00000333447.7	-	26	3174	c.3175delA	c.(3175-3177)agafs	p.R1059fs	PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site			B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	970										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAACTTGTTCtttttttttta	0.333													3	4	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49039405	49039406	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr13:49039405_49039406insA	ENST00000267163.4	+	23	2528_2529	c.2390_2391insA	c.(2389-2394)ttacggfs	p.R798fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	798	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.R798fs*17(1)|p.L797fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGTTCACCCTTACGGATTCCTG	0.401		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			35	45	---	---	---	---					
OR7A10	390892	broad.mit.edu	37	19	14952273	14952273	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chr19:14952273delT	ENST00000248058.1	-	1	416	c.417delA	c.(415-417)caafs	p.Q139fs		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GTCCACAGAGTTGAGGGTTCA	0.473													25	53	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44941824	44941824	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-AAN0-01A-11D-A42E-08	TCGA-XF-AAN0-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729ffa0f-a655-42c5-96f7-421b74c88f34	9a946923-3d3a-4cc4-b2a0-f333eb975f2a	g.chrX:44941824delG	ENST00000377967.4	+	21	3189	c.3148delG	c.(3148-3150)gaafs	p.E1050fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.E1005fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.E1057fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.E971fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1050					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCTATAGGAAGAAAATGAAAA	0.308			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								26	13	---	---	---	---