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
COLEC11	78989	broad.mit.edu	37	2	3691555	3691555	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:3691555C>T	ENST00000403096.3	+	6	1076	c.585C>T	c.(583-585)ccC>ccT	p.P195P	COLEC11_ENST00000382062.2_Silent_p.P197P|COLEC11_ENST00000349077.4_Silent_p.P221P|COLEC11_ENST00000236693.7_Silent_p.P218P|COLEC11_ENST00000418971.2_Silent_p.P235P|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.P147P|COLEC11_ENST00000402794.1_Silent_p.P171P|COLEC11_ENST00000402922.1_Silent_p.P171P	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	221	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		ACCACTCCCCCATGCGGACCT	0.642000													8	77					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393000													5	110					0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31045793	31045793	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:31045793G>A	ENST00000394998.1	+	5	580	c.237G>A	c.(235-237)caG>caA	p.Q79Q	STX4_ENST00000313843.3_Silent_p.Q81Q|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	81					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GCATGAAGCAGGAGCTGCAGA	0.582000													14	27					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126299167	126299167	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:126299167C>T	ENST00000525144.2	-	15	1962	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	KIRREL3_ENST00000416561.2_Silent_p.V38V|KIRREL3_ENST00000529097.2_Silent_p.V559V	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	571					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTTTGGCTGACACAACACCTT	0.468000													17	63					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29694668	29694668	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:29694668G>A	ENST00000440587.2	+	6	1017	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.V349M			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCCTACTCAGTGGTCAGCGG	0.463000													42	105					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104332226	104332226	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:104332226A>G	ENST00000299767.5	+	7	1146	c.964A>G	c.(964-966)Aag>Gag	p.K322E		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	322					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	aaagaaACCAAAGACTAAAAA	0.388000													13	23					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235922372	235922372	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:235922372G>A	ENST00000389794.3	-	23	6955	c.6781C>T	c.(6781-6783)Cgt>Tgt	p.R2261C	LYST_ENST00000389793.2_Missense_Mutation_p.R2261C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2261					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGGCCAACGGCCAACAGCT	0.473000													23	40					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2132493	2132493	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:2132493G>A	ENST00000219476.3	+	32	4501	c.3871G>A	c.(3871-3873)Gtt>Att	p.V1291I	TSC2_ENST00000353929.4_Missense_Mutation_p.V1248I|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000350773.4_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000568454.1_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1291					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCACAGGAGCGTTTCCTGGGC	0.647000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				20	5					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120569905	120569905	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr8:120569905T>C	ENST00000427067.2	-	26	2691	c.2511A>G	c.(2509-2511)gtA>gtG	p.V837V	ENPP2_ENST00000522826.1_Silent_p.V841V|ENPP2_ENST00000259486.6_Silent_p.V868V|ENPP2_ENST00000522167.1_Silent_p.V451V|ENPP2_ENST00000075322.6_Silent_p.V816V			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	816	Required for secretion (By similarity).				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGAGTTCTTCTACCCATTTTG	0.458000													33	142					0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42909669	42909669	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:42909669C>G	ENST00000405592.1	+	10	1333	c.663C>G	c.(661-663)agC>agG	p.S221R	MTA3_ENST00000406652.1_Missense_Mutation_p.S221R|MTA3_ENST00000406911.1_Missense_Mutation_p.S277R|MTA3_ENST00000405094.1_Missense_Mutation_p.S277R|MTA3_ENST00000407270.3_Missense_Mutation_p.S277R			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	277	ELM2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CTGAAGCTAGCTTATTTGAAG	0.388000													29	12					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618981	52618981	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:52618981C>T	ENST00000600228.1	-	4	1697	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGCTGCAAGTCGTGAATGTAT	0.418000													16	49					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530370	140530370	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:140530370C>T	ENST00000231136.1	+	1	532	c.532C>T	c.(532-534)Cac>Tac	p.H178Y	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Y	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		178	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCACTTCCACGTTCTCAC	0.542000													8	181					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57219234	57219234	+	Splice_Site	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr8:57219234C>T	ENST00000396721.2	-	4	709		c.e4+1		SDR16C5_ENST00000522671.1_Splice_Site|SDR16C5_ENST00000303749.3_Splice_Site			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5						detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GACATACTTACCCTGTAGTAC	0.289000													42	34					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8998036	8998036	+	Splice_Site	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:8998036A>T	ENST00000299698.7	+	13	1656		c.e13-1		A2ML1_ENST00000539547.1_Splice_Site|A2ML1_ENST00000540049.1_3'UTR	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1							extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TTTCTTCTTTAGTTAATAGGG	0.428000													4	93					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169499025	169499025	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:169499025G>A	ENST00000367796.3	-	16	5456	c.5255C>T	c.(5254-5256)cCc>cTc	p.P1752L	F5_ENST00000367797.3_Missense_Mutation_p.P1747L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1747	F5/8 type A 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GATTAGGAGGGGACCTATCAA	0.373000													15	148					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34161956	34161956	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:34161956G>A	ENST00000257829.3	+	24	2635	c.2429G>A	c.(2428-2430)cGg>cAg	p.R810Q	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.R738Q	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	810	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GCCCTGAGCCGGGAGGAGCTG	0.577000													6	119					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51939890	51939890	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr13:51939890A>T	ENST00000311234.4	-	18	3134	c.2662T>A	c.(2662-2664)Taa>Aaa	p.*888K	INTS6_ENST00000425000.1_Nonstop_Mutation_p.*456K|INTS6_ENST00000398119.2_Nonstop_Mutation_p.*875K|INTS6_ENST00000490542.1_Nonstop_Mutation_p.*572K|INTS6_ENST00000497989.1_Nonstop_Mutation_p.*710K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	0					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATTTTCTTTTAATTGCTATTA	0.318000													3	16					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779454	91779454	+	Silent	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:91779454C>A	ENST00000389857.6	-	15	2792	c.2706G>T	c.(2704-2706)gtG>gtT	p.V902V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	902					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCTTGCATGCACGGTGACTT	0.617000													4	88					0.150653	0.15377	1	1	0
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398000									Pendred syndrome				5	137					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65310505	65310505	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:65310505T>C	ENST00000342505.4	-	16	2431	c.2183A>G	c.(2182-2184)gAc>gGc	p.D728G	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	728	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ACACTCACTGTCGATGCCCTC	0.542000			Mis		ALL								3	44					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17928647	17928647	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:17928647G>T	ENST00000361221.3	+	5	442	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D95Y	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	95					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GAGCAATGGGGATGCAGCGGA	0.682000													6	13					0.00116845	0.00125312	1	1	0
SGCE	8910	broad.mit.edu	37	7	94257637	94257637	+	Silent	SNP	T	T	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:94257637T>A	ENST00000415788.2	-	4	462	c.375A>T	c.(373-375)acA>acT	p.T125T	SGCE_ENST00000447873.1_Silent_p.T89T|SGCE_ENST00000445866.2_Silent_p.T89T|SGCE_ENST00000437425.2_Silent_p.T48T|SGCE_ENST00000265735.7_Silent_p.T89T|SGCE_ENST00000428696.2_Silent_p.T89T			O43556	SGCE_HUMAN	sarcoglycan, epsilon	89					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCATTAAATTTGTATTAAATG	0.383000													22	18					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109753571	109753571	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:109753571C>T	ENST00000399132.1	-	32	2205	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	COL25A1_ENST00000399126.1_Missense_Mutation_p.G559R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G571R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	559						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCATGGGGTCCCATAGGACCA	0.393000													3	60					0	0	1	0	0
PRSS3	5646	broad.mit.edu	37	9	33795585	33795585	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr9:33795585T>C	ENST00000379405.3	+	1	53	c.14T>C	c.(13-15)cTg>cCg	p.L5P	PRSS3_ENST00000342836.4_Intron|PRSS3_ENST00000361005.5_Intron|PRSS3_ENST00000429677.3_Intron|RP11-133O22.6_ENST00000454429.2_RNA	NM_002771.3	NP_002762.2	P35030	TRY3_HUMAN	protease, serine, 3	0					digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AATCCATTCCTGATCCTTGCC	0.572000													3	46					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551206	165551206	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:165551206A>G	ENST00000375458.2	-	11	2917	c.2696T>C	c.(2695-2697)cTg>cCg	p.L899P	COBLL1_ENST00000194871.6_Missense_Mutation_p.L1004P|COBLL1_ENST00000409184.3_Missense_Mutation_p.L937P|COBLL1_ENST00000392717.2_Missense_Mutation_p.L975P|COBLL1_ENST00000342193.4_Missense_Mutation_p.L937P	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	975										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTTATTTGTCAGTTCTTTTGG	0.463000													3	113					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26864323	26864323	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:26864323G>A	ENST00000226247.2	+	8	1845	c.1816G>A	c.(1816-1818)Ggg>Agg	p.G606R	FOXN1_ENST00000579795.1_Missense_Mutation_p.G606R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	606					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGGTGGCTCCGGGGCACTGGG	0.682000													9	31					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42606197	42606197	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:42606197G>A	ENST00000359486.3	-	1	5251	c.5115C>T	c.(5113-5115)tgC>tgT	p.C1705C	TCF20_ENST00000335626.4_Silent_p.C1705C|TCF20_ENST00000404876.1_Silent_p.C6C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CACACAGACAGCAAACCAGGT	0.552000													4	91					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6646512	6646512	+	Missense_Mutation	SNP	G	G	T	rs77154254		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:6646512G>T	ENST00000229239.5	+	7	1147	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S|GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	161					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	p.A161S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	AGCACCCCTGGCCAAGGTCAT	0.577000													3	28					0.00024832	0.000272232	1	1	0
WDTC1	23038	broad.mit.edu	37	1	27609919	27609919	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:27609919C>T	ENST00000319394.3	+	5	805	c.270C>T	c.(268-270)acC>acT	p.T90T	WDTC1_ENST00000361771.3_Silent_p.T90T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	90							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CGGGACACACCGCAAATATCT	0.562000													36	34					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448000													5	160					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628327	46628327	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:46628327G>A	ENST00000470495.1	-	2	2112	c.665C>T	c.(664-666)gCc>gTc	p.A222V	HOXB3_ENST00000489475.1_Missense_Mutation_p.A149V|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.A90V|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.A222V|HOXB3_ENST00000476342.1_Missense_Mutation_p.A222V|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.A90V|HOXB3_ENST00000472863.1_Missense_Mutation_p.A149V|HOXB3_ENST00000311626.4_Missense_Mutation_p.A222V|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A88V			P14651	HXB3_HUMAN	homeobox B3	222					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CAGCAGGTTGGCCATCTCTAC	0.607000													4	69					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215690	20215690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:20215690A>T	ENST00000331723.1	+	1	104	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTTTTTTACATTGCTATT	0.378000													5	331					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38816289	38816289	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:38816289G>A	ENST00000310301.4	-	11	926	c.872C>T	c.(871-873)tCa>tTa	p.S291L	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.S266L	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	291					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CGTTTTTTCTGAAATCTCCTT	0.403000													8	19					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47769001	47769001	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr21:47769001C>A	ENST00000359568.5	+	7	1215	c.1108C>A	c.(1108-1110)Caa>Aaa	p.Q370K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	370	Glu-rich.				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)					TGCAAAGCATCAATCAGAAAT	0.343000													10	184					0.000308642	0.000335875	1	1	0
ZNF654	55279	broad.mit.edu	37	3	88189697	88189697	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:88189697A>G	ENST00000309495.5	+	1	1444	c.1237A>G	c.(1237-1239)Atg>Gtg	p.M413V	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGACCAAAAGATGCCTGACAT	0.343000													21	39					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599818	31599818	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:31599818A>C	ENST00000376033.2	+	16	3602	c.3368A>C	c.(3367-3369)gAg>gCg	p.E1123A	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1123A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1123	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCAGACAAGGAGGCTCCCACA	0.647000													8	28					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137480910	137480910	+	Silent	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:137480910A>G	ENST00000254900.5	-	25	3764	c.3393T>C	c.(3391-3393)ccT>ccC	p.P1131P		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1131	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTCTGACACAGGCTTCAGAA	0.463000													4	232					0	0	1	0	0
MLX	6945	broad.mit.edu	37	17	40722038	40722038	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:40722038C>A	ENST00000246912.4	+	7	730	c.677C>A	c.(676-678)cCc>cAc	p.P226H	MLX_ENST00000435881.2_Missense_Mutation_p.P172H|MLX_ENST00000346833.4_Missense_Mutation_p.P142H	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	226					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CAGGACAACCCCCATGAAGGG	0.542000													86	333					5.84261e-33	7.08776e-33	1	1	0
MPHOSPH10	10199	broad.mit.edu	37	2	71368393	71368393	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:71368393C>G	ENST00000244230.2	+	7	1692	c.1340C>G	c.(1339-1341)cCt>cGt	p.P447R		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	447					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAAGAAAAACCTAAAGAGGAT	0.338000													54	100					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154027278	154027278	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:154027278T>A	ENST00000368559.3	-	24	3342	c.3271A>T	c.(3271-3273)Aaa>Taa	p.K1091*	NUP210L_ENST00000368553.1_Nonsense_Mutation_p.K24*|NUP210L_ENST00000271854.3_Nonsense_Mutation_p.K1091*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1091						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTGTCATTTTCTCTGGAAGA	0.368000													22	43					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201354881	201354881	+	Missense_Mutation	SNP	C	C	A	rs143101113		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:201354881C>A	ENST00000391967.2	-	4	1380	c.1079G>T	c.(1078-1080)cGa>cTa	p.R360L	LAD1_ENST00000367313.3_Missense_Mutation_p.R374L	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	360						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGTAGGTTCGCTGTGTGGG	0.597000											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	46					9.70103e-10	1.15786e-09	1	1	0
HPS5	11234	broad.mit.edu	37	11	18318399	18318399	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:18318399A>G	ENST00000396253.3	-	11	1576	c.1114T>C	c.(1114-1116)Tca>Cca	p.S372P	HPS5_ENST00000438420.2_Missense_Mutation_p.S372P|HPS5_ENST00000349215.3_Missense_Mutation_p.S486P|HPS5_ENST00000531848.1_Missense_Mutation_p.S372P	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	486						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCTGCTGTGAGGTGAATTCT	0.448000									Hermansky-Pudlak syndrome				6	489					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131896886	131896886	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr8:131896886C>T	ENST00000286355.5	-	8	4125	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R678Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	678					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATCGCCACTCCGCAAGTCGAT	0.458000										HNSCC(32;0.087)			20	53					0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241796	60241796	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr18:60241796A>G	ENST00000269499.5	+	13	2900	c.2482A>G	c.(2482-2484)Aca>Gca	p.T828A	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.T507A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	828					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGAGAGCTGCACAGTTAACAT	0.498000													31	75					0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43009011	43009011	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:43009011G>A	ENST00000587309.1	-	11	1535	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G	KIF18B_ENST00000590129.1_Silent_p.G513G|KIF18B_ENST00000438933.2_Silent_p.G504G|KIF18B_ENST00000339151.4_Silent_p.G504G|KIF18B_ENST00000593135.1_Silent_p.G492G	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTGAGAAGTGGCCCACGACTG	0.572000													3	49					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29924416	29924416	+	Splice_Site	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:29924416G>A	ENST00000490103.1	-	10	1087	c.966_splice	c.e10+1	p.T322_splice	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site_p.T322_splice|THOC5_ENST00000397872.1_Splice_Site_p.T322_splice|THOC5_ENST00000397873.2_Splice_Site_p.T322_splice	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	322					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTCTCACCGTAGTCTGCTC	0.567000													5	120					0	0	1	0	0
RPAIN	84268	broad.mit.edu	37	17	5335874	5335874	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:5335874T>C	ENST00000381209.3	+	7	1213	c.643T>C	c.(643-645)Tgg>Cgg	p.W215R	RPAIN_ENST00000381208.5_Missense_Mutation_p.W168R|RPAIN_ENST00000327154.6_Silent_p.L146L|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000536255.2_3'UTR	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	215					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CTGTGATACTTGGGCTGTGAT	0.378000													3	282					0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	49119017	49119017	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:49119017G>A	ENST00000371839.1	-	8	947	c.831C>T	c.(829-831)ggC>ggT	p.G277G	AGBL4_ENST00000371838.1_Silent_p.G277G|AGBL4_ENST00000334103.7_Silent_p.G10G	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	277					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		ACCTGTAATTGCCCAGGTAGA	0.443000													7	38					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496685	52496685	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:52496685G>A	ENST00000602063.1	-	6	1993	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	ZNF615_ENST00000598071.1_Silent_p.G559G|ZNF615_ENST00000594083.1_Silent_p.G559G|ZNF615_ENST00000376716.5_Silent_p.G548G|ZNF615_ENST00000391795.3_Silent_p.G553G			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTCAGTGAAGCCTTTTCCAC	0.448000													31	70					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3502638	3502638	+	Silent	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr18:3502638A>G	ENST00000315677.3	-	12	3172	c.2577T>C	c.(2575-2577)ccT>ccC	p.P859P	DLGAP1_ENST00000584874.1_Silent_p.P859P|DLGAP1_ENST00000581699.1_Silent_p.P565P|DLGAP1_ENST00000581527.1_Silent_p.P859P|DLGAP1_ENST00000400147.2_Silent_p.P557P|DLGAP1_ENST00000539435.1_Silent_p.P567P|DLGAP1_ENST00000515196.2_Silent_p.P859P|DLGAP1_ENST00000400145.2_Silent_p.P557P|DLGAP1_ENST00000400149.3_Silent_p.P549P|DLGAP1_ENST00000400150.3_Silent_p.P575P|DLGAP1_ENST00000400155.1_Silent_p.P565P|DLGAP1_ENST00000534970.1_Silent_p.P543P	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	859					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GATGAGCATTAGGATTCTGCA	0.388000													14	31					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198816	58198816	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:58198816T>C	ENST00000282296.5	+	3	1358	c.1173T>C	c.(1171-1173)taT>taC	p.Y391Y	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Silent_p.Y375Y	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGGCCTTATCAGTGCTGTG	0.448000													28	51					0	0	1	0	0
CS	1431	broad.mit.edu	37	12	56667394	56667394	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:56667394C>A	ENST00000548567.1	-	11	1479	c.1009G>T	c.(1009-1011)Gct>Tct	p.A337S	CS_ENST00000351328.3_Missense_Mutation_p.A403S|CS_ENST00000542324.2_Missense_Mutation_p.A390S			O75390	CISY_HUMAN	citrate synthase	403					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCACTGTGAGCATCTACATTG	0.453000													3	82					1	1	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136699840	136699840	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:136699840C>T	ENST00000445907.2	+	3	756	c.228C>T	c.(226-228)tcC>tcT	p.S76S	AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Silent_p.S76S|CHRM2_ENST00000397608.3_Silent_p.S76S|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.S76S|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Silent_p.S76S|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.S76S|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	76					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTGTTTTCTCCATGAACTTGT	0.473000													3	148					0	0	1	0	0
RPS3A	6189	broad.mit.edu	37	4	152022142	152022142	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:152022142G>A	ENST00000322686.6	+	4	167	c.143G>A	c.(142-144)gGt>gAt	p.G48D	RPS3A_ENST00000512690.1_Missense_Mutation_p.G61D|RPS3A_ENST00000274065.4_Missense_Mutation_p.G61D|RPS3A_ENST00000506126.1_Missense_Mutation_p.G24D|RPS3A_ENST00000514682.1_Missense_Mutation_p.G24D|RPS3A_ENST00000509736.1_Intron			P61247	RS3A_HUMAN	ribosomal protein S3A	61					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					GCATCTGATGGTCTCAAGGGT	0.348000													21	41					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57185310	57185310	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:57185310C>T	ENST00000607273.1	+	3	297	c.210C>T	c.(208-210)taC>taT	p.Y70Y	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	70					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTGAACAATACCAGAGTAAGT	0.308000													9	28					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40844591	40844591	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:40844591G>C	ENST00000264638.4	+	17	2822	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	869	Laminin G-like 3.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGACGACTTTGAGTTCAATGA	0.587000													31	81					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861487	67861487	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:67861487G>C	ENST00000262345.1	+	16	2944	c.2304G>C	c.(2302-2304)aaG>aaC	p.K768N	IL12RB2_ENST00000544434.1_Missense_Mutation_p.K682N|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000371000.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	768					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ATCTGTACAAGGTGCTGGAGA	0.582000													48	181					0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100058770	100058770	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:100058770C>G	ENST00000394140.3	+	3	329	c.238C>G	c.(238-240)Ctc>Gtc	p.L80V		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	80	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CAGCATATATCTCATTGGAGG	0.418000													49	49					0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90591734	90591734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:90591734C>T	ENST00000371930.4	-	2	281	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	24										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TTCTTTCACCCACCGCCACAC	0.493000													8	172					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50128614	50128614	+	Splice_Site	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:50128614A>T	ENST00000299192.7	+	12	1701		c.e12-1		HEATR3_ENST00000564942.1_Splice_Site|HEATR3_ENST00000285767.4_Splice_Site	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3								binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGTGTTTTAGATTTTGCTA	0.333000													4	140					0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	52990211	52990211	+	Silent	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr13:52990211G>T	ENST00000378060.4	-	13	1035	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	336					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTGATGTTAGGGATCCCTTTT	0.368000													4	80					1.23904e-05	1.37878e-05	1	1	0
OR4F15	390649	broad.mit.edu	37	15	102358493	102358493	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr15:102358493A>T	ENST00000332238.4	+	1	128	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTGTTGTTCTACTTTGCGAGC	0.423000													7	214					0	0	1	0	0
GAS8	2622	broad.mit.edu	37	16	90099333	90099333	+	Splice_Site	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:90099333G>A	ENST00000268699.4	+	4	617		c.e4+1		GAS8_ENST00000536122.1_Splice_Site|GAS8_ENST00000540721.1_Splice_Site	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCTGCGGCTGGTAGGTGTGGC	0.572000													3	11					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462781	224462781	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:224462781T>C	ENST00000305409.2	-	2	1452	c.1220A>G	c.(1219-1221)aAt>aGt	p.N407S		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	407					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGCATCCTATTTTGGAACAG	0.502000													15	79					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27663340	27663340	+	Silent	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:27663340C>A	ENST00000233557.3	+	13	1939	c.1107C>A	c.(1105-1107)atC>atA	p.I369I	NRBP1_ENST00000379852.3_Silent_p.I369I|NRBP1_ENST00000379863.3_Silent_p.I377I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	369					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGGCTGAAATCCCTGCAGGAC	0.493000													29	57					1.02151e-06	1.16295e-06	1	1	0
C17orf75	64149	broad.mit.edu	37	17	30665271	30665271	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:30665271T>G	ENST00000577809.1	-	4	496	c.447A>C	c.(445-447)gaA>gaC	p.E149D	C17orf75_ENST00000225805.4_Missense_Mutation_p.E149D|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	149					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGACCACATATTCTGAAGGGT	0.403000													31	60					0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548538	22548538	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr8:22548538G>A	ENST00000317216.2	-	2	969	c.612C>T	c.(610-612)ggC>ggT	p.G204G	EGR3_ENST00000522910.1_Silent_p.G166G|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	204					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CCGGAATGGAGCCCATGTCGT	0.577000													4	56					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154027277	154027277	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:154027277T>G	ENST00000368559.3	-	24	3343	c.3272A>C	c.(3271-3273)aAa>aCa	p.K1091T	NUP210L_ENST00000368553.1_Missense_Mutation_p.K24T|NUP210L_ENST00000271854.3_Missense_Mutation_p.K1091T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1091						integral to membrane		p.K1091R(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGTGTCATTTTCTCTGGAAG	0.368000													23	45					0	0	1	0	0
UBA5	79876	broad.mit.edu	37	3	132387710	132387710	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:132387710C>A	ENST00000356232.4	+	4	1418	c.346C>A	c.(346-348)Ctt>Att	p.L116I	UBA5_ENST00000494238.2_Missense_Mutation_p.L60I|UBA5_ENST00000473651.1_Missense_Mutation_p.L116I|UBA5_ENST00000493720.2_Missense_Mutation_p.L116I|UBA5_ENST00000264991.4_Missense_Mutation_p.L60I	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	116					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TATGAATAGACTTTTCTTCCA	0.333000													8	70					6.31663e-08	7.3036e-08	1	1	0
ECHDC2	55268	broad.mit.edu	37	1	53363134	53363134	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:53363134G>A	ENST00000536120.1	-	12	1455	c.638C>T	c.(637-639)gCc>gTc	p.A213V	ECHDC2_ENST00000358358.5_Missense_Mutation_p.A228V|ECHDC2_ENST00000371522.4_Missense_Mutation_p.A259V			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	259					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CCCTTCAATGGCCATCCCAGA	0.532000													5	192					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113194723	113194723	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:113194723A>C	ENST00000393020.1	+	4	635	c.230A>C	c.(229-231)gAa>gCa	p.E77A	TTC12_ENST00000483239.2_Missense_Mutation_p.E77A|TTC12_ENST00000529221.1_Missense_Mutation_p.E77A|TTC12_ENST00000314756.3_Missense_Mutation_p.E77A			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	77							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CAGAGTGCAGAAGAAATAAAC	0.323000													7	57					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	24046247	24046247	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:24046247G>A	ENST00000238789.5	-	16	2355	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	671							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCATGCCCTGAAGACATCAC	0.453000													12	46					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38301275	38301275	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:38301275C>T	ENST00000374618.3	+	2	184	c.6C>T	c.(4-6)aaC>aaT	p.N2N	ZNF33A_ENST00000469037.2_Silent_p.N2N|ZNF33A_ENST00000307441.9_Silent_p.N2N|ZNF33A_ENST00000458705.2_Silent_p.N2N|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000432900.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	2						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACAAAATGAACAAGGTAAGTT	0.348000													10	57					0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138715429	138715429	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:138715429G>T	ENST00000353963.3	-	8	913	c.875C>A	c.(874-876)gCa>gAa	p.A292E	SLC23A1_ENST00000348729.3_Missense_Mutation_p.A288E	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	288					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	ATCGGTTCGTGCCTGGAAGCC	0.592000													7	36					7.48243e-07	8.58449e-07	1	1	0
SLC40A1	30061	broad.mit.edu	37	2	190439950	190439950	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:190439950C>T	ENST00000261024.2	-	3	634	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	70					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGAACAGACCCTGCCACCACC	0.488000													3	71					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127395171	127395171	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:127395171T>C	ENST00000232744.8	+	5	463	c.377T>C	c.(376-378)tTc>tCc	p.F126S	ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000468137.1_5'UTR|ABTB1_ENST00000393363.3_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	126	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGGAAGCCATTCCGGGTGCAT	0.587000													5	291					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114044312	114044312	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:114044312C>T	ENST00000369422.3	+	2	96	c.96C>T	c.(94-96)tgC>tgT	p.C32C		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	32	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTGTGTTTTGCTATCCCAAAA	0.458000													10	86					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27431334	27431334	+	Missense_Mutation	SNP	C	C	G	rs143591480		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:27431334C>G	ENST00000326799.3	-	5	731	c.583G>C	c.(583-585)Gat>Cat	p.D195H	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Missense_Mutation_p.D138H	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	195					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACTGAAGATCTGAACAAATG	0.318000													12	40					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123253705	123253705	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr9:123253705C>A	ENST00000349780.4	-	13	1541	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E454D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	454					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCATTGCTTTCTCTCTTTCAT	0.313000													5	38					0.00116845	0.00125312	1	1	0
ORC5	5001	broad.mit.edu	37	7	103807322	103807322	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:103807322C>T	ENST00000545943.1	-	11	1117	c.492G>A	c.(490-492)gcG>gcA	p.A164A	ORC5_ENST00000297431.4_Silent_p.A296A			O43913	ORC5_HUMAN	origin recognition complex, subunit 5	296					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CATGAGTATGCGCTGAGAGGC	0.358000													3	67					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27481696	27481696	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:27481696G>A	ENST00000356183.4	-	31	4562	c.4547C>T	c.(4546-4548)cCa>cTa	p.P1516L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1516L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1516						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GATGGTGCTTGGAAATCGCCA	0.498000													3	138					0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69776454	69776454	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:69776454G>A	ENST00000268802.5	-	9	1049	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	340						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GATCCTCGGTGAGATGGGGGT	0.567000													10	85					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48032817	48032817	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:48032817C>A	ENST00000234420.4	+	7	3769	c.3617C>A	c.(3616-3618)gCa>gAa	p.A1206E	MSH6_ENST00000540021.1_Missense_Mutation_p.A1076E|MSH6_ENST00000538136.1_Missense_Mutation_p.A904E|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1206					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATGCAACAGCACATTCTCTG	0.294000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				33	41					1.04352e-10	1.25561e-10	1	1	0
TMEM187	8269	broad.mit.edu	37	X	153247610	153247610	+	Missense_Mutation	SNP	G	G	T	rs139864308	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chrX:153247610G>T	ENST00000369982.4	+	2	844	c.97G>T	c.(97-99)Gtg>Ttg	p.V33L		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	33						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGTTTCCGTGCAAGTGGG	0.637000													17	17					2.4624e-09	2.91548e-09	1	1	0
RHOT1	55288	broad.mit.edu	37	17	30538143	30538143	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:30538143G>A	ENST00000358365.3	+	20	2071	c.1844G>A	c.(1843-1845)cGg>cAg	p.R615Q	RHOT1_ENST00000394692.2_Intron|RHOT1_ENST00000333942.6_Intron|RHOT1_ENST00000354266.3_Intron|RHOT1_ENST00000583994.1_Intron|RHOT1_ENST00000545287.2_Missense_Mutation_p.R583Q	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	0					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AGCCATGCCCGGTTACGCTGT	0.428000													3	149					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40820338	40820338	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:40820338C>T	ENST00000396617.3	-	8	939	c.349G>A	c.(349-351)Gag>Aag	p.E117K	MKL1_ENST00000355630.3_Missense_Mutation_p.E117K|MKL1_ENST00000407029.1_Missense_Mutation_p.E117K|MKL1_ENST00000402042.1_Missense_Mutation_p.E117K			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	117	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						CTGCTGTCCTCATCGAAGGAA	0.587000			T	RBM15	acute megakaryocytic leukemia								3	56					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749416	79749416	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr15:79749416C>T	ENST00000305428.3	+	2	1002	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	309						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						TGCCCTATAACAGCCAGTACC	0.507000													12	83					0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323146	124323146	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:124323146G>A	ENST00000394339.2	+	2	740	c.400G>A	c.(400-402)Gga>Aga	p.G134R	SPRY1_ENST00000339241.1_Missense_Mutation_p.G134R	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	134					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TTCTGAACAGGGACTGTTAGG	0.542000													6	72					0	0	1	0	0
ZNF396	252884	broad.mit.edu	37	18	32949435	32949435	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr18:32949435T>C	ENST00000306346.1	-	4	883	c.752A>G	c.(751-753)cAg>cGg	p.Q251R	ZNF396_ENST00000589332.1_Missense_Mutation_p.Q251R	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	251					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ATCACATTTCTGTTGTTTTTT	0.398000													3	103					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48571078	48571078	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:48571078C>T	ENST00000354276.3	-	13	1399	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G358R|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G358R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G368R|PLA2G4C_ENST00000596510.1_5'UTR	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	358	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGAGTGGTCCCCCATTCCCAC	0.532000													6	611					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65184580	65184580	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:65184580T>C	ENST00000358691.5	-	12	1183	c.1017A>G	c.(1015-1017)caA>caG	p.Q339Q	HELZ_ENST00000580168.1_Silent_p.Q339Q	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTAATCCATTTTGGGCCATCT	0.383000													56	212					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2873557	2873557	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:2873557C>T	ENST00000586426.1	+	2	154	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ZNF556_ENST00000307635.2_Missense_Mutation_p.P23S			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CTTGCTGAATCCTGCTCAGAG	0.463000													4	146					0	0	1	0	0
ABHD6	57406	broad.mit.edu	37	3	58270856	58270856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:58270856C>A	ENST00000478253.1	+	8	1227	c.726C>A	c.(724-726)ttC>ttA	p.F242L	ABHD6_ENST00000295962.4_Missense_Mutation_p.F242L			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	242						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ATAACAACTTCTACCGAAAGT	0.423000													3	77					0.150653	0.15377	1	1	0
HMGN2	3151	broad.mit.edu	37	1	26801118	26801118	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:26801118G>A	ENST00000361427.5	+	5	291	c.197G>A	c.(196-198)gGg>gAg	p.G66E	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	66					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GGCAAGGAGGGGAATAACCCT	0.413000													12	19					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10417514	10417514	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:10417514C>A	ENST00000274140.5	+	22	2413	c.2281C>A	c.(2281-2283)Cag>Aag	p.Q761K	MARCH6_ENST00000510792.1_Missense_Mutation_p.Q459K|MARCH6_ENST00000449913.2_Missense_Mutation_p.Q713K|MARCH6_ENST00000503788.1_Missense_Mutation_p.Q656K	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	761					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTATCCATGGCAGGTAAATGT	0.463000													4	109					2.7689e-08	3.22674e-08	1	1	0
CNOT4	4850	broad.mit.edu	37	7	135048745	135048745	+	Silent	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:135048745A>T	ENST00000541284.1	-	11	2031	c.1701T>A	c.(1699-1701)atT>atA	p.I567I	CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000451834.1_Silent_p.I564I|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000361528.4_Intron	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	247					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AGTTGATGTTAATGTTGGGTA	0.488000													6	347					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100129224	100129224	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:100129224C>G	ENST00000330710.5	+	6	1612	c.1514C>G	c.(1513-1515)tCc>tGc	p.S505C	HHIPL1_ENST00000357223.2_Missense_Mutation_p.S505C	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	505					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGTCTGATGTCCCTCCAAGAG	0.572000													28	47					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46632338	46632338	+	Missense_Mutation	SNP	A	A	T	rs150895932		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr13:46632338A>T	ENST00000181383.4	-	9	991	c.975T>A	c.(973-975)agT>agA	p.S325R	CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	325		Cleavage; by thrombin.			blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTTTGCTTTTACTTCGTGTAT	0.328000													5	142					0	0	1	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681478	125681478	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr9:125681478C>A	ENST00000373656.3	-	2	809	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	ZBTB26_ENST00000373654.1_Missense_Mutation_p.G246C	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TTATCACTGCCTGTATAAGAA	0.433000													9	125					1.76689e-08	2.0754e-08	1	1	0
PFAS	5198	broad.mit.edu	37	17	8159006	8159006	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:8159006C>A	ENST00000314666.6	+	5	704	c.571C>A	c.(571-573)Ctt>Att	p.L191I	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	191					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAACCAGGAGCTTGGTGAGTA	0.577000													4	23					1	1	1	1	0
CERK	64781	broad.mit.edu	37	22	47116101	47116101	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:47116101G>A	ENST00000216264.8	-	3	373	c.261C>T	c.(259-261)caC>caT	p.H87H	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	87	Required for binding to sulfatide and phosphoinositides.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTTTACACAGTGAACTGCAC	0.522000													16	23					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348000			T	ETV1	prostate								5	67					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858969	52858969	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:52858969C>T	ENST00000266041.4	-	7	861	c.765G>A	c.(763-765)gaG>gaA	p.E255E	ITIH4_ENST00000485816.1_Silent_p.E255E|ITIH4_ENST00000346281.5_Silent_p.E255E|ITIH4_ENST00000406595.1_Silent_p.E255E|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Silent_p.E167E	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	255					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGTAGCCGTTCTCGATCTGTG	0.537000													6	9					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57956390	57956390	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:57956390G>A	ENST00000334181.4	+	3	2124	c.1874G>A	c.(1873-1875)tGt>tAt	p.C625Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		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;0.0264)|Lung(386;0.177)		AGATATCGCTGTACACTGAGT	0.353000													3	88					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452560	58452560	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:58452560C>A	ENST00000282308.3	-	3	1812	c.1616G>T	c.(1615-1617)aGa>aTa	p.R539I	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	539					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGTGTGACTTCTCCTATGTCT	0.463000													8	76					0.0381472	0.0397591	1	1	0
PER3	8863	broad.mit.edu	37	1	7887541	7887541	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:7887541A>T	ENST00000377532.3	+	17	2776	c.2552A>T	c.(2551-2553)tAc>tTc	p.Y851F	PER3_ENST00000361923.2_Missense_Mutation_p.Y843F			P56645	PER3_HUMAN	period circadian clock 3	843	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTTCCTTACTTGGATACT	0.577000													4	209					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67101650	67101650	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:67101650C>T	ENST00000371037.4	+	4	200	c.123C>T	c.(121-123)ccC>ccT	p.P41P	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000468286.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	41					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACGAACCACCCTACAATAGCA	0.373000													8	75					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90756689	90756689	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:90756689G>A	ENST00000354366.3	-	10	2337	c.2105C>T	c.(2104-2106)aCc>aTc	p.T702I	NRDE2_ENST00000357904.3_Missense_Mutation_p.T471I	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CTGACCCCTGGTCCAGCGAGG	0.502000													6	35					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109367746	109367746	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:109367746C>A	ENST00000283195.6	+	10	1426	c.1300C>A	c.(1300-1302)Ctt>Att	p.L434I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	434					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TAATGGTAGTCTTCAGCACCT	0.383000													4	99					1.23904e-05	1.37878e-05	1	1	0
CCDC151	115948	broad.mit.edu	37	19	11537536	11537536	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:11537536G>A	ENST00000356392.4	-	5	768	c.681C>T	c.(679-681)acC>acT	p.T227T	CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000586836.1_Silent_p.T36T|CCDC151_ENST00000545100.1_Silent_p.T173T	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	227										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GGTACACGCTGGTAATGTGCT	0.622000													11	23					0	0	1	0	0
IPCEF1	26034	broad.mit.edu	37	6	154587060	154587060	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:154587060C>T	ENST00000265198.4	-	3	177	c.22G>A	c.(22-24)Gat>Aat	p.D8N	IPCEF1_ENST00000422970.2_Missense_Mutation_p.D8N|IPCEF1_ENST00000367220.4_Missense_Mutation_p.D8N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GCACTGCCATCAATAGCCATG	0.323000													4	145					0	0	1	0	0
MRPL10	124995	broad.mit.edu	37	17	45904504	45904504	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:45904504C>T	ENST00000290208.7	-	3	771	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	MRPL10_ENST00000351111.2_Missense_Mutation_p.A97T|MRPL10_ENST00000414011.1_Missense_Mutation_p.A107T			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	97					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TGGCAGACGGCTATCATTCGG	0.522000													4	532					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433897	72433897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chrX:72433897G>T	ENST00000373517.3	-	1	787	c.432C>A	c.(430-432)taC>taA	p.Y144*	NAP1L2_ENST00000536638.1_Nonsense_Mutation_p.Y2*	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	144					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTAAGGGTTGGTACATTTCAG	0.383000													3	91					0.00024832	0.000272232	1	1	0
RAPH1	65059	broad.mit.edu	37	2	204356027	204356027	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr2:204356027T>G	ENST00000319170.5	-	3	435	c.136A>C	c.(136-138)Aag>Cag	p.K46Q	RAPH1_ENST00000418114.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000374488.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000374493.3_Missense_Mutation_p.K46Q|RAPH1_ENST00000308091.4_Missense_Mutation_p.K46Q|RAPH1_ENST00000374489.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000457812.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000453034.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000423104.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000439222.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000419464.1_Missense_Mutation_p.K46Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	46					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCATGGGCTTGTCAGAATCC	0.318000													7	47					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11098575	11098575	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:11098575G>C	ENST00000358026.2	+	6	1377	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	SMARCA4_ENST00000450717.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E365Q|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E365Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E365Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E365Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	365					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGACCCTGTGGAGATCCTGCA	0.692000			"""F, N, Mis"""		NSCLC								8	12					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G	rs147711959	by1000genomes	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:72209576C>G	ENST00000438125.1	-	0	579							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCGGAGCATCGACTATGACA	0.413000													4	77					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114451052	114451052	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:114451052C>T	ENST00000375478.3	-	5	1081	c.901G>A	c.(901-903)Gtt>Att	p.V301I	NXPE4_ENST00000424261.2_Missense_Mutation_p.V17I	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TTCATTGCAACTGTTTCTTCT	0.408000													27	36					0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3691555	3691555	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:3691555C>T	ENST00000403096.3	+	6	1076	c.585C>T	c.(583-585)ccC>ccT	p.P195P	COLEC11_ENST00000236693.7_Silent_p.P218P|COLEC11_ENST00000418971.2_Silent_p.P235P|COLEC11_ENST00000404205.1_Silent_p.P147P|COLEC11_ENST00000402794.1_Silent_p.P171P|COLEC11_ENST00000402922.1_Silent_p.P171P|COLEC11_ENST00000382062.2_Silent_p.P197P|COLEC11_ENST00000349077.4_Silent_p.P221P|COLEC11_ENST00000487365.1_3'UTR	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	221	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		ACCACTCCCCCATGCGGACCT	0.642000													8	77					0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31045793	31045793	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr16:31045793G>A	ENST00000394998.1	+	5	580	c.237G>A	c.(235-237)caG>caA	p.Q79Q	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Silent_p.Q81Q	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	81					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GCATGAAGCAGGAGCTGCAGA	0.582000													14	27					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201354880	201354880	+	Silent	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:201354880T>G	ENST00000391967.2	-	4	1381	c.1080A>C	c.(1078-1080)cgA>cgC	p.R360R	LAD1_ENST00000367313.3_Silent_p.R374R	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	360						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TGCTGTAGGTTCGCTGTGTGG	0.597000											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	48					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126299167	126299167	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr11:126299167C>T	ENST00000525144.2	-	15	1962	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	KIRREL3_ENST00000529097.2_Silent_p.V559V|KIRREL3_ENST00000416561.2_Silent_p.V38V	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	571					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTTTGGCTGACACAACACCTT	0.468000													17	63					0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29694668	29694668	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr6:29694668G>A	ENST00000440587.2	+	6	1017	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.V349M			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCCTACTCAGTGGTCAGCGG	0.463000													42	105					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104332226	104332226	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr12:104332226A>G	ENST00000299767.5	+	7	1146	c.964A>G	c.(964-966)Aag>Gag	p.K322E		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	322					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	aaagaaACCAAAGACTAAAAA	0.388000													13	23					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235922372	235922372	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:235922372G>A	ENST00000389794.3	-	23	6955	c.6781C>T	c.(6781-6783)Cgt>Tgt	p.R2261C	LYST_ENST00000389793.2_Missense_Mutation_p.R2261C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2261					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGGCCAACGGCCAACAGCT	0.473000													23	40					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2132493	2132493	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr16:2132493G>A	ENST00000219476.3	+	32	4501	c.3871G>A	c.(3871-3873)Gtt>Att	p.V1291I	TSC2_ENST00000353929.4_Missense_Mutation_p.V1248I|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000350773.4_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000568454.1_Intron	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1291					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCACAGGAGCGTTTCCTGGGC	0.647000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				20	5					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120569905	120569905	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr8:120569905T>C	ENST00000427067.2	-	26	2691	c.2511A>G	c.(2509-2511)gtA>gtG	p.V837V	ENPP2_ENST00000259486.6_Silent_p.V868V|ENPP2_ENST00000522826.1_Silent_p.V841V|ENPP2_ENST00000075322.6_Silent_p.V816V|ENPP2_ENST00000522167.1_Silent_p.V451V			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	816	Required for secretion (By similarity).				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGAGTTCTTCTACCCATTTTG	0.458000													33	142					0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42909669	42909669	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:42909669C>G	ENST00000405592.1	+	10	1333	c.663C>G	c.(661-663)agC>agG	p.S221R	MTA3_ENST00000407270.3_Missense_Mutation_p.S277R|MTA3_ENST00000406652.1_Missense_Mutation_p.S221R|MTA3_ENST00000406911.1_Missense_Mutation_p.S277R|MTA3_ENST00000405094.1_Missense_Mutation_p.S277R			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	277	ELM2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CTGAAGCTAGCTTATTTGAAG	0.388000													29	12					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618981	52618981	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:52618981C>T	ENST00000600228.1	-	4	1697	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGCTGCAAGTCGTGAATGTAT	0.418000													16	49					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530370	140530370	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr5:140530370C>T	ENST00000231136.1	+	1	532	c.532C>T	c.(532-534)Cac>Tac	p.H178Y	PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Y	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		178	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCACTTCCACGTTCTCAC	0.542000													8	181					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57219234	57219234	+	Splice_Site	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr8:57219234C>T	ENST00000396721.2	-	4	709		c.e4+1		SDR16C5_ENST00000303749.3_Splice_Site|SDR16C5_ENST00000522671.1_Splice_Site			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5						detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GACATACTTACCCTGTAGTAC	0.289000													42	34					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169499025	169499025	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:169499025G>A	ENST00000367796.3	-	16	5456	c.5255C>T	c.(5254-5256)cCc>cTc	p.P1752L	F5_ENST00000367797.3_Missense_Mutation_p.P1747L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1747	F5/8 type A 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GATTAGGAGGGGACCTATCAA	0.373000													15	148					0	0	1	0	0
CS	1431	broad.mit.edu	37	12	56667394	56667394	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr12:56667394C>A	ENST00000548567.1	-	11	1479	c.1009G>T	c.(1009-1011)Gct>Tct	p.A337S	CS_ENST00000542324.2_Missense_Mutation_p.A390S|CS_ENST00000351328.3_Missense_Mutation_p.A403S			O75390	CISY_HUMAN	citrate synthase	403					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCACTGTGAGCATCTACATTG	0.453000													3	82					1	1	1	1	0
NAT10	55226	broad.mit.edu	37	11	34161956	34161956	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr11:34161956G>A	ENST00000257829.3	+	24	2635	c.2429G>A	c.(2428-2430)cGg>cAg	p.R810Q	NAT10_ENST00000531159.2_Missense_Mutation_p.R738Q|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	810	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GCCCTGAGCCGGGAGGAGCTG	0.577000													6	119					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51939890	51939890	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr13:51939890A>T	ENST00000311234.4	-	18	3134	c.2662T>A	c.(2662-2664)Taa>Aaa	p.*888K	INTS6_ENST00000497989.1_Nonstop_Mutation_p.*710K|INTS6_ENST00000425000.1_Nonstop_Mutation_p.*456K|INTS6_ENST00000490542.1_Nonstop_Mutation_p.*572K|INTS6_ENST00000398119.2_Nonstop_Mutation_p.*875K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	0					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATTTTCTTTTAATTGCTATTA	0.318000													3	16					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779454	91779454	+	Silent	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr14:91779454C>A	ENST00000389857.6	-	15	2792	c.2706G>T	c.(2704-2706)gtG>gtT	p.V902V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	902					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCTTGCATGCACGGTGACTT	0.617000													4	88					0.150653	0.152971	1	1	0
JAK1	3716	broad.mit.edu	37	1	65310505	65310505	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:65310505T>C	ENST00000342505.4	-	16	2431	c.2183A>G	c.(2182-2184)gAc>gGc	p.D728G	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	728	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ACACTCACTGTCGATGCCCTC	0.542000			Mis		ALL								3	44					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17928647	17928647	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:17928647G>T	ENST00000361221.3	+	5	442	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000375420.3_5'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D95Y|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D95Y	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	95					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GAGCAATGGGGATGCAGCGGA	0.682000													6	13					0.00116845	0.00125394	1	1	0
SGCE	8910	broad.mit.edu	37	7	94257637	94257637	+	Silent	SNP	T	T	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr7:94257637T>A	ENST00000415788.2	-	4	462	c.375A>T	c.(373-375)acA>acT	p.T125T	SGCE_ENST00000445866.2_Silent_p.T89T|SGCE_ENST00000265735.7_Silent_p.T89T|SGCE_ENST00000447873.1_Silent_p.T89T|SGCE_ENST00000437425.2_Silent_p.T48T|SGCE_ENST00000428696.2_Silent_p.T89T			O43556	SGCE_HUMAN	sarcoglycan, epsilon	89					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCATTAAATTTGTATTAAATG	0.383000													22	18					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109753571	109753571	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr4:109753571C>T	ENST00000399132.1	-	32	2205	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	COL25A1_ENST00000399127.1_Missense_Mutation_p.G571R|COL25A1_ENST00000399126.1_Missense_Mutation_p.G559R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	559						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCATGGGGTCCCATAGGACCA	0.393000													3	60					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551206	165551206	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:165551206A>G	ENST00000375458.2	-	11	2917	c.2696T>C	c.(2695-2697)cTg>cCg	p.L899P	COBLL1_ENST00000342193.4_Missense_Mutation_p.L937P|COBLL1_ENST00000194871.6_Missense_Mutation_p.L1004P|COBLL1_ENST00000392717.2_Missense_Mutation_p.L975P|COBLL1_ENST00000409184.3_Missense_Mutation_p.L937P	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	975										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTTATTTGTCAGTTCTTTTGG	0.463000													3	113					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26864323	26864323	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:26864323G>A	ENST00000226247.2	+	8	1845	c.1816G>A	c.(1816-1818)Ggg>Agg	p.G606R	FOXN1_ENST00000579795.1_Missense_Mutation_p.G606R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	606					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					TGGTGGCTCCGGGGCACTGGG	0.682000													9	31					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42606197	42606197	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr22:42606197G>A	ENST00000359486.3	-	1	5251	c.5115C>T	c.(5113-5115)tgC>tgT	p.C1705C	TCF20_ENST00000404876.1_Silent_p.C6C|TCF20_ENST00000335626.4_Silent_p.C1705C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CACACAGACAGCAAACCAGGT	0.552000													4	91					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6646512	6646512	+	Missense_Mutation	SNP	G	G	T	rs77154254		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr12:6646512G>T	ENST00000229239.5	+	7	1147	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	GAPDH_ENST00000396861.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396859.1_Missense_Mutation_p.A161S|GAPDH_ENST00000396856.1_Missense_Mutation_p.A86S|GAPDH_ENST00000396858.1_Missense_Mutation_p.A119S	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	161					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	p.A161S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	AGCACCCCTGGCCAAGGTCAT	0.577000													3	28					0.00024832	0.000273152	1	1	0
WDTC1	23038	broad.mit.edu	37	1	27609919	27609919	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:27609919C>T	ENST00000319394.3	+	5	805	c.270C>T	c.(268-270)acC>acT	p.T90T	WDTC1_ENST00000361771.3_Silent_p.T90T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	90							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CGGGACACACCGCAAATATCT	0.562000													36	34					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628327	46628327	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:46628327G>A	ENST00000470495.1	-	2	2112	c.665C>T	c.(664-666)gCc>gTc	p.A222V	HOXB3_ENST00000498678.1_Missense_Mutation_p.A222V|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.A149V|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.A222V|HOXB3_ENST00000460160.1_Missense_Mutation_p.A90V|HOXB3_ENST00000311626.4_Missense_Mutation_p.A222V|HOXB3_ENST00000489475.1_Missense_Mutation_p.A149V|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A88V|HOXB3_ENST00000485909.2_Missense_Mutation_p.A90V			P14651	HXB3_HUMAN	homeobox B3	222					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CAGCAGGTTGGCCATCTCTAC	0.607000													4	69					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215690	20215690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr14:20215690A>T	ENST00000331723.1	+	1	104	c.104A>T	c.(103-105)tAc>tTc	p.Y35F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTTTTTTACATTGCTATT	0.378000													5	331					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38816289	38816289	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr7:38816289G>A	ENST00000310301.4	-	11	926	c.872C>T	c.(871-873)tCa>tTa	p.S291L	VPS41_ENST00000395969.2_Missense_Mutation_p.S266L|VPS41_ENST00000466017.1_5'UTR	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	291					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CGTTTTTTCTGAAATCTCCTT	0.403000													8	19					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47769001	47769001	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr21:47769001C>A	ENST00000359568.5	+	7	1215	c.1108C>A	c.(1108-1110)Caa>Aaa	p.Q370K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	370	Glu-rich.				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)					TGCAAAGCATCAATCAGAAAT	0.343000													10	184					0.000308642	0.0003367	1	1	0
ZNF654	55279	broad.mit.edu	37	3	88189697	88189697	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:88189697A>G	ENST00000309495.5	+	1	1444	c.1237A>G	c.(1237-1239)Atg>Gtg	p.M413V	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGACCAAAAGATGCCTGACAT	0.343000													21	39					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599818	31599818	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr6:31599818A>C	ENST00000376033.2	+	16	3602	c.3368A>C	c.(3367-3369)gAg>gCg	p.E1123A	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1123A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1123	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCAGACAAGGAGGCTCCCACA	0.647000													8	28					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137480910	137480910	+	Silent	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr5:137480910A>G	ENST00000254900.5	-	25	3764	c.3393T>C	c.(3391-3393)ccT>ccC	p.P1131P		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1131	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTCTGACACAGGCTTCAGAA	0.463000													4	232					0	0	1	0	0
MLX	6945	broad.mit.edu	37	17	40722038	40722038	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:40722038C>A	ENST00000246912.4	+	7	730	c.677C>A	c.(676-678)cCc>cAc	p.P226H	MLX_ENST00000346833.4_Missense_Mutation_p.P142H|MLX_ENST00000435881.2_Missense_Mutation_p.P172H	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	226					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CAGGACAACCCCCATGAAGGG	0.542000													86	333					5.84261e-33	7.20771e-33	1	1	0
MPHOSPH10	10199	broad.mit.edu	37	2	71368393	71368393	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:71368393C>G	ENST00000244230.2	+	7	1692	c.1340C>G	c.(1339-1341)cCt>cGt	p.P447R		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	447					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAAGAAAAACCTAAAGAGGAT	0.338000													54	100					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154027278	154027278	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:154027278T>A	ENST00000368559.3	-	24	3342	c.3271A>T	c.(3271-3273)Aaa>Taa	p.K1091*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.K1091*|NUP210L_ENST00000368553.1_Nonsense_Mutation_p.K24*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1091						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTGTCATTTTCTCTGGAAGA	0.368000													22	43					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201354881	201354881	+	Missense_Mutation	SNP	C	C	A	rs143101113		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:201354881C>A	ENST00000391967.2	-	4	1380	c.1079G>T	c.(1078-1080)cGa>cTa	p.R360L	LAD1_ENST00000367313.3_Missense_Mutation_p.R374L	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	360						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGTAGGTTCGCTGTGTGGG	0.597000											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	46					9.70103e-10	1.1748e-09	1	1	0
HPS5	11234	broad.mit.edu	37	11	18318399	18318399	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr11:18318399A>G	ENST00000396253.3	-	11	1576	c.1114T>C	c.(1114-1116)Tca>Cca	p.S372P	HPS5_ENST00000531848.1_Missense_Mutation_p.S372P|HPS5_ENST00000349215.3_Missense_Mutation_p.S486P|HPS5_ENST00000438420.2_Missense_Mutation_p.S372P	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	486						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCTGCTGTGAGGTGAATTCT	0.448000									Hermansky-Pudlak syndrome				6	489					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131896886	131896886	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr8:131896886C>T	ENST00000286355.5	-	8	4125	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R678Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	678					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATCGCCACTCCGCAAGTCGAT	0.458000										HNSCC(32;0.087)			20	53					0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43009011	43009011	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:43009011G>A	ENST00000587309.1	-	11	1535	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G	KIF18B_ENST00000593135.1_Silent_p.G492G|KIF18B_ENST00000590129.1_Silent_p.G513G|KIF18B_ENST00000438933.2_Silent_p.G504G|KIF18B_ENST00000339151.4_Silent_p.G504G	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CTGAGAAGTGGCCCACGACTG	0.572000													3	49					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29924416	29924416	+	Splice_Site	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr22:29924416G>A	ENST00000490103.1	-	10	1087	c.966_splice	c.e10+1	p.T322_splice	THOC5_ENST00000397871.1_Splice_Site_p.T322_splice|THOC5_ENST00000397872.1_Splice_Site_p.T322_splice|THOC5_ENST00000397873.2_Splice_Site_p.T322_splice|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	322					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTCTCACCGTAGTCTGCTC	0.567000													5	120					0	0	1	0	0
RPAIN	84268	broad.mit.edu	37	17	5335874	5335874	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:5335874T>C	ENST00000381209.3	+	7	1213	c.643T>C	c.(643-645)Tgg>Cgg	p.W215R	RPAIN_ENST00000536255.2_3'UTR|RPAIN_ENST00000381208.5_Missense_Mutation_p.W168R|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_Silent_p.L146L	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	215					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CTGTGATACTTGGGCTGTGAT	0.378000													3	282					0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	49119017	49119017	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:49119017G>A	ENST00000371839.1	-	8	947	c.831C>T	c.(829-831)ggC>ggT	p.G277G	AGBL4_ENST00000371838.1_Silent_p.G277G|AGBL4_ENST00000334103.7_Silent_p.G10G	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	277					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		ACCTGTAATTGCCCAGGTAGA	0.443000													7	38					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496685	52496685	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:52496685G>A	ENST00000602063.1	-	6	1993	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	ZNF615_ENST00000391795.3_Silent_p.G553G|ZNF615_ENST00000376716.5_Silent_p.G548G|ZNF615_ENST00000598071.1_Silent_p.G559G|ZNF615_ENST00000594083.1_Silent_p.G559G			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTCAGTGAAGCCTTTTCCAC	0.448000													31	70					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3502638	3502638	+	Silent	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr18:3502638A>G	ENST00000315677.3	-	12	3172	c.2577T>C	c.(2575-2577)ccT>ccC	p.P859P	DLGAP1_ENST00000581527.1_Silent_p.P859P|DLGAP1_ENST00000400145.2_Silent_p.P557P|DLGAP1_ENST00000584874.1_Silent_p.P859P|DLGAP1_ENST00000539435.1_Silent_p.P567P|DLGAP1_ENST00000581699.1_Silent_p.P565P|DLGAP1_ENST00000400149.3_Silent_p.P549P|DLGAP1_ENST00000515196.2_Silent_p.P859P|DLGAP1_ENST00000400150.3_Silent_p.P575P|DLGAP1_ENST00000534970.1_Silent_p.P543P|DLGAP1_ENST00000400147.2_Silent_p.P557P|DLGAP1_ENST00000400155.1_Silent_p.P565P	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	859					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GATGAGCATTAGGATTCTGCA	0.388000													14	31					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198816	58198816	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:58198816T>C	ENST00000282296.5	+	3	1358	c.1173T>C	c.(1171-1173)taT>taC	p.Y391Y	ZNF551_ENST00000356715.4_Silent_p.Y375Y|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGGCCTTATCAGTGCTGTG	0.448000													28	51					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699840	136699840	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr7:136699840C>T	ENST00000445907.2	+	3	756	c.228C>T	c.(226-228)tcC>tcT	p.S76S	CHRM2_ENST00000320658.5_Silent_p.S76S|CHRM2_ENST00000453373.1_Silent_p.S76S|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Silent_p.S76S|CHRM2_ENST00000401861.1_Silent_p.S76S|CHRM2_ENST00000397608.3_Silent_p.S76S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	76					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTGTTTTCTCCATGAACTTGT	0.473000													3	148					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162092	90162092	+	RNA	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr16:90162092G>A	ENST00000564451.1	+	0	1445				TUBB8P7_ENST00000567960.1_RNA														p.R275Q(1)									CTGACCAGCCGGGGCAGCCAG	0.622000													11	6					0	0	1	0	0
RPS3A	6189	broad.mit.edu	37	4	152022142	152022142	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr4:152022142G>A	ENST00000322686.6	+	4	167	c.143G>A	c.(142-144)gGt>gAt	p.G48D	RPS3A_ENST00000509736.1_Intron|RPS3A_ENST00000514682.1_Missense_Mutation_p.G24D|RPS3A_ENST00000506126.1_Missense_Mutation_p.G24D|RPS3A_ENST00000274065.4_Missense_Mutation_p.G61D|RPS3A_ENST00000512690.1_Missense_Mutation_p.G61D			P61247	RS3A_HUMAN	ribosomal protein S3A	61					cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					GCATCTGATGGTCTCAAGGGT	0.348000													21	41					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57185310	57185310	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr6:57185310C>T	ENST00000607273.1	+	3	297	c.210C>T	c.(208-210)taC>taT	p.Y70Y	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	70					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTGAACAATACCAGAGTAAGT	0.308000													9	28					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40844591	40844591	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:40844591G>C	ENST00000264638.4	+	17	2822	c.2605G>C	c.(2605-2607)Gag>Cag	p.E869Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	869	Laminin G-like 3.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGACGACTTTGAGTTCAATGA	0.587000													31	81					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67861487	67861487	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:67861487G>C	ENST00000262345.1	+	16	2944	c.2304G>C	c.(2302-2304)aaG>aaC	p.K768N	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.K682N	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	768					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ATCTGTACAAGGTGCTGGAGA	0.582000													48	181					0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100058770	100058770	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:100058770C>G	ENST00000394140.3	+	3	329	c.238C>G	c.(238-240)Ctc>Gtc	p.L80V		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	80	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CAGCATATATCTCATTGGAGG	0.418000													49	49					0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90591734	90591734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr10:90591734C>T	ENST00000371930.4	-	2	281	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	24										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TTCTTTCACCCACCGCCACAC	0.493000													8	172					0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	52990211	52990211	+	Silent	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr13:52990211G>T	ENST00000378060.4	-	13	1035	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	336					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTGATGTTAGGGATCCCTTTT	0.368000													4	80					1.23904e-05	1.38604e-05	1	1	0
PFAS	5198	broad.mit.edu	37	17	8159006	8159006	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:8159006C>A	ENST00000314666.6	+	5	704	c.571C>A	c.(571-573)Ctt>Att	p.L191I	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	191					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAACCAGGAGCTTGGTGAGTA	0.577000													4	23					1	1	1	1	0
GAS8	2622	broad.mit.edu	37	16	90099333	90099333	+	Splice_Site	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr16:90099333G>A	ENST00000268699.4	+	4	617		c.e4+1		GAS8_ENST00000536122.1_Splice_Site|GAS8_ENST00000540721.1_Splice_Site	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCTGCGGCTGGTAGGTGTGGC	0.572000													3	11					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462781	224462781	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:224462781T>C	ENST00000305409.2	-	2	1452	c.1220A>G	c.(1219-1221)aAt>aGt	p.N407S		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	407					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGCATCCTATTTTGGAACAG	0.502000													15	79					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27663340	27663340	+	Silent	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:27663340C>A	ENST00000233557.3	+	13	1939	c.1107C>A	c.(1105-1107)atC>atA	p.I369I	NRBP1_ENST00000379852.3_Silent_p.I369I|NRBP1_ENST00000379863.3_Silent_p.I377I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	369					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGGCTGAAATCCCTGCAGGAC	0.493000													29	57					1.02151e-06	1.16241e-06	1	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	149	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662000													4	5					1.06961e-07	1.2385e-07	1	1	0
C17orf75	64149	broad.mit.edu	37	17	30665271	30665271	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:30665271T>G	ENST00000577809.1	-	4	496	c.447A>C	c.(445-447)gaA>gaC	p.E149D	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.E149D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	149					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGACCACATATTCTGAAGGGT	0.403000													31	60					0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548538	22548538	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr8:22548538G>A	ENST00000317216.2	-	2	969	c.612C>T	c.(610-612)ggC>ggT	p.G204G	RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Silent_p.G166G|EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000524088.1_5'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	204					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CCGGAATGGAGCCCATGTCGT	0.577000													4	56					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154027277	154027277	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:154027277T>G	ENST00000368559.3	-	24	3343	c.3272A>C	c.(3271-3273)aAa>aCa	p.K1091T	NUP210L_ENST00000271854.3_Missense_Mutation_p.K1091T|NUP210L_ENST00000368553.1_Missense_Mutation_p.K24T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1091						integral to membrane		p.K1091R(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGTGTCATTTTCTCTGGAAG	0.368000													23	45					0	0	1	0	0
UBA5	79876	broad.mit.edu	37	3	132387710	132387710	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:132387710C>A	ENST00000356232.4	+	4	1418	c.346C>A	c.(346-348)Ctt>Att	p.L116I	UBA5_ENST00000264991.4_Missense_Mutation_p.L60I|UBA5_ENST00000473651.1_Missense_Mutation_p.L116I|UBA5_ENST00000493720.2_Missense_Mutation_p.L116I|UBA5_ENST00000494238.2_Missense_Mutation_p.L60I	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	116					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TATGAATAGACTTTTCTTCCA	0.333000													8	70					6.31663e-08	7.37871e-08	1	1	0
ECHDC2	55268	broad.mit.edu	37	1	53363134	53363134	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:53363134G>A	ENST00000536120.1	-	12	1455	c.638C>T	c.(637-639)gCc>gTc	p.A213V	ECHDC2_ENST00000371522.4_Missense_Mutation_p.A259V|ECHDC2_ENST00000358358.5_Missense_Mutation_p.A228V			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	259					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CCCTTCAATGGCCATCCCAGA	0.532000													5	192					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113194723	113194723	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr11:113194723A>C	ENST00000393020.1	+	4	635	c.230A>C	c.(229-231)gAa>gCa	p.E77A	TTC12_ENST00000529221.1_Missense_Mutation_p.E77A|TTC12_ENST00000483239.2_Missense_Mutation_p.E77A|TTC12_ENST00000314756.3_Missense_Mutation_p.E77A			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	77							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CAGAGTGCAGAAGAAATAAAC	0.323000													7	57					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	24046247	24046247	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:24046247G>A	ENST00000238789.5	-	16	2355	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	671							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCATGCCCTGAAGACATCAC	0.453000													12	46					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38301275	38301275	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr10:38301275C>T	ENST00000374618.3	+	2	184	c.6C>T	c.(4-6)aaC>aaT	p.N2N	ZNF33A_ENST00000432900.2_Intron|ZNF33A_ENST00000469037.2_Silent_p.N2N|ZNF33A_ENST00000458705.2_Silent_p.N2N|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000307441.9_Silent_p.N2N	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	2						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACAAAATGAACAAGGTAAGTT	0.348000													10	57					0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138715429	138715429	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr5:138715429G>T	ENST00000353963.3	-	8	913	c.875C>A	c.(874-876)gCa>gAa	p.A292E	SLC23A1_ENST00000348729.3_Missense_Mutation_p.A288E	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	288					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	ATCGGTTCGTGCCTGGAAGCC	0.592000													7	36					7.48243e-07	8.58853e-07	1	1	0
SLC40A1	30061	broad.mit.edu	37	2	190439950	190439950	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:190439950C>T	ENST00000261024.2	-	3	634	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	70					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGAACAGACCCTGCCACCACC	0.488000													3	71					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127395171	127395171	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:127395171T>C	ENST00000232744.8	+	5	463	c.377T>C	c.(376-378)tTc>tCc	p.F126S	ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_5'UTR			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	126	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGGAAGCCATTCCGGGTGCAT	0.587000													5	291					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114044312	114044312	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr10:114044312C>T	ENST00000369422.3	+	2	96	c.96C>T	c.(94-96)tgC>tgT	p.C32C		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	32	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTGTGTTTTGCTATCCCAAAA	0.458000													10	86					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27431334	27431334	+	Missense_Mutation	SNP	C	C	G	rs143591480		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr10:27431334C>G	ENST00000326799.3	-	5	731	c.583G>C	c.(583-585)Gat>Cat	p.D195H	YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Missense_Mutation_p.D138H	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	195					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACTGAAGATCTGAACAAATG	0.318000													12	40					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123253705	123253705	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr9:123253705C>A	ENST00000349780.4	-	13	1541	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E454D|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E454D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	454					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCATTGCTTTCTCTCTTTCAT	0.313000													5	38					0.00116845	0.00125394	1	1	0
ORC5	5001	broad.mit.edu	37	7	103807322	103807322	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr7:103807322C>T	ENST00000545943.1	-	11	1117	c.492G>A	c.(490-492)gcG>gcA	p.A164A	ORC5_ENST00000297431.4_Silent_p.A296A			O43913	ORC5_HUMAN	origin recognition complex, subunit 5	296					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CATGAGTATGCGCTGAGAGGC	0.358000													3	67					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27481696	27481696	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr16:27481696G>A	ENST00000356183.4	-	31	4562	c.4547C>T	c.(4546-4548)cCa>cTa	p.P1516L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1516L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1516						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GATGGTGCTTGGAAATCGCCA	0.498000													3	138					0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69776454	69776454	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr16:69776454G>A	ENST00000268802.5	-	9	1049	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	340						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GATCCTCGGTGAGATGGGGGT	0.567000													10	85					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48032817	48032817	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:48032817C>A	ENST00000234420.4	+	7	3769	c.3617C>A	c.(3616-3618)gCa>gAa	p.A1206E	MSH6_ENST00000540021.1_Missense_Mutation_p.A1076E|MSH6_ENST00000538136.1_Missense_Mutation_p.A904E|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1206					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATGCAACAGCACATTCTCTG	0.294000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				33	41					1.04352e-10	1.27541e-10	1	1	0
TMEM187	8269	broad.mit.edu	37	X	153247610	153247610	+	Missense_Mutation	SNP	G	G	T	rs139864308	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chrX:153247610G>T	ENST00000369982.4	+	2	844	c.97G>T	c.(97-99)Gtg>Ttg	p.V33L		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	33						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGTTTCCGTGCAAGTGGG	0.637000													17	17					2.4624e-09	2.95488e-09	1	1	0
RHOT1	55288	broad.mit.edu	37	17	30538143	30538143	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:30538143G>A	ENST00000358365.3	+	20	2071	c.1844G>A	c.(1843-1845)cGg>cAg	p.R615Q	RHOT1_ENST00000354266.3_Intron|RHOT1_ENST00000333942.6_Intron|RHOT1_ENST00000545287.2_Missense_Mutation_p.R583Q|RHOT1_ENST00000583994.1_Intron|RHOT1_ENST00000394692.2_Intron	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	0					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AGCCATGCCCGGTTACGCTGT	0.428000													3	149					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40820338	40820338	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr22:40820338C>T	ENST00000396617.3	-	8	939	c.349G>A	c.(349-351)Gag>Aag	p.E117K	MKL1_ENST00000402042.1_Missense_Mutation_p.E117K|MKL1_ENST00000355630.3_Missense_Mutation_p.E117K|MKL1_ENST00000407029.1_Missense_Mutation_p.E117K			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	117	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						CTGCTGTCCTCATCGAAGGAA	0.587000			T	RBM15	acute megakaryocytic leukemia								3	56					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749416	79749416	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr15:79749416C>T	ENST00000305428.3	+	2	1002	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	309						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						TGCCCTATAACAGCCAGTACC	0.507000													12	83					0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323146	124323146	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr4:124323146G>A	ENST00000394339.2	+	2	740	c.400G>A	c.(400-402)Gga>Aga	p.G134R	SPRY1_ENST00000339241.1_Missense_Mutation_p.G134R	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	134					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TTCTGAACAGGGACTGTTAGG	0.542000													6	72					0	0	1	0	0
ZNF396	252884	broad.mit.edu	37	18	32949435	32949435	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr18:32949435T>C	ENST00000306346.1	-	4	883	c.752A>G	c.(751-753)cAg>cGg	p.Q251R	ZNF396_ENST00000589332.1_Missense_Mutation_p.Q251R	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	251					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ATCACATTTCTGTTGTTTTTT	0.398000													3	103					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48571078	48571078	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:48571078C>T	ENST00000354276.3	-	13	1399	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G368R|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G358R|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G358R	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	358	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGAGTGGTCCCCCATTCCCAC	0.532000													6	611					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65184580	65184580	+	Silent	SNP	T	T	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:65184580T>C	ENST00000358691.5	-	12	1183	c.1017A>G	c.(1015-1017)caA>caG	p.Q339Q	HELZ_ENST00000580168.1_Silent_p.Q339Q	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTAATCCATTTTGGGCCATCT	0.383000													56	212					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2873557	2873557	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:2873557C>T	ENST00000586426.1	+	2	154	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ZNF556_ENST00000307635.2_Missense_Mutation_p.P23S			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CTTGCTGAATCCTGCTCAGAG	0.463000													4	146					0	0	1	0	0
ABHD6	57406	broad.mit.edu	37	3	58270856	58270856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:58270856C>A	ENST00000478253.1	+	8	1227	c.726C>A	c.(724-726)ttC>ttA	p.F242L	ABHD6_ENST00000295962.4_Missense_Mutation_p.F242L			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	242						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ATAACAACTTCTACCGAAAGT	0.423000													3	77					0.150653	0.152971	1	1	0
HMGN2	3151	broad.mit.edu	37	1	26801118	26801118	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:26801118G>A	ENST00000361427.5	+	5	291	c.197G>A	c.(196-198)gGg>gAg	p.G66E	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	66					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GGCAAGGAGGGGAATAACCCT	0.413000													12	19					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10417514	10417514	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr5:10417514C>A	ENST00000274140.5	+	22	2413	c.2281C>A	c.(2281-2283)Cag>Aag	p.Q761K	MARCH6_ENST00000449913.2_Missense_Mutation_p.Q713K|MARCH6_ENST00000510792.1_Missense_Mutation_p.Q459K|MARCH6_ENST00000503788.1_Missense_Mutation_p.Q656K	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	761					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTATCCATGGCAGGTAAATGT	0.463000													4	109					2.7689e-08	3.26334e-08	1	1	0
ZCCHC2	54877	broad.mit.edu	37	18	60241796	60241796	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr18:60241796A>G	ENST00000269499.5	+	13	2900	c.2482A>G	c.(2482-2484)Aca>Gca	p.T828A	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.T507A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	828					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGAGAGCTGCACAGTTAACAT	0.498000													31	75					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100129224	100129224	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr14:100129224C>G	ENST00000330710.5	+	6	1612	c.1514C>G	c.(1513-1515)tCc>tGc	p.S505C	HHIPL1_ENST00000357223.2_Missense_Mutation_p.S505C	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	505					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGTCTGATGTCCCTCCAAGAG	0.572000													28	47					0	0	1	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681478	125681478	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr9:125681478C>A	ENST00000373656.3	-	2	809	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	ZBTB26_ENST00000373654.1_Missense_Mutation_p.G246C	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TTATCACTGCCTGTATAAGAA	0.433000													9	125					1.76689e-08	2.10117e-08	1	1	0
CERK	64781	broad.mit.edu	37	22	47116101	47116101	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr22:47116101G>A	ENST00000216264.8	-	3	373	c.261C>T	c.(259-261)caC>caT	p.H87H	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	87	Required for binding to sulfatide and phosphoinositides.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTTTACACAGTGAACTGCAC	0.522000													16	23					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858969	52858969	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:52858969C>T	ENST00000266041.4	-	7	861	c.765G>A	c.(763-765)gaG>gaA	p.E255E	ITIH4_ENST00000485816.1_Silent_p.E255E|ITIH4_ENST00000434759.3_Silent_p.E167E|ITIH4_ENST00000346281.5_Silent_p.E255E|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Silent_p.E255E	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	255					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGTAGCCGTTCTCGATCTGTG	0.537000													6	9					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57956390	57956390	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:57956390G>A	ENST00000334181.4	+	3	2124	c.1874G>A	c.(1873-1875)tGt>tAt	p.C625Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		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;0.0264)|Lung(386;0.177)		AGATATCGCTGTACACTGAGT	0.353000													3	88					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452560	58452560	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:58452560C>A	ENST00000282308.3	-	3	1812	c.1616G>T	c.(1615-1617)aGa>aTa	p.R539I	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	539					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGTGTGACTTCTCCTATGTCT	0.463000													8	76					0.0381472	0.0396491	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67101650	67101650	+	Silent	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:67101650C>T	ENST00000371037.4	+	4	200	c.123C>T	c.(121-123)ccC>ccT	p.P41P	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000468286.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	41					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACGAACCACCCTACAATAGCA	0.373000													8	75					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90756689	90756689	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr14:90756689G>A	ENST00000354366.3	-	10	2337	c.2105C>T	c.(2104-2106)aCc>aTc	p.T702I	NRDE2_ENST00000357904.3_Missense_Mutation_p.T471I	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CTGACCCCTGGTCCAGCGAGG	0.502000													6	35					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109367746	109367746	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:109367746C>A	ENST00000283195.6	+	10	1426	c.1300C>A	c.(1300-1302)Ctt>Att	p.L434I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	434					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TAATGGTAGTCTTCAGCACCT	0.383000													4	99					1.23904e-05	1.38604e-05	1	1	0
CCDC151	115948	broad.mit.edu	37	19	11537536	11537536	+	Silent	SNP	G	G	A			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:11537536G>A	ENST00000356392.4	-	5	768	c.681C>T	c.(679-681)acC>acT	p.T227T	CCDC151_ENST00000586836.1_Silent_p.T36T|CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000545100.1_Silent_p.T173T	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	227										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GGTACACGCTGGTAATGTGCT	0.622000													11	23					0	0	1	0	0
IPCEF1	26034	broad.mit.edu	37	6	154587060	154587060	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr6:154587060C>T	ENST00000265198.4	-	3	177	c.22G>A	c.(22-24)Gat>Aat	p.D8N	IPCEF1_ENST00000422970.2_Missense_Mutation_p.D8N|IPCEF1_ENST00000367220.4_Missense_Mutation_p.D8N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GCACTGCCATCAATAGCCATG	0.323000													4	145					0	0	1	0	0
MRPL10	124995	broad.mit.edu	37	17	45904504	45904504	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr17:45904504C>T	ENST00000290208.7	-	3	771	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	MRPL10_ENST00000351111.2_Missense_Mutation_p.A97T|MRPL10_ENST00000414011.1_Missense_Mutation_p.A107T			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	97					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TGGCAGACGGCTATCATTCGG	0.522000													4	532					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433897	72433897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chrX:72433897G>T	ENST00000373517.3	-	1	787	c.432C>A	c.(430-432)taC>taA	p.Y144*	NAP1L2_ENST00000536638.1_Nonsense_Mutation_p.Y2*	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	144					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTAAGGGTTGGTACATTTCAG	0.383000													3	91					0.00024832	0.000273152	1	1	0
RAPH1	65059	broad.mit.edu	37	2	204356027	204356027	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:204356027T>G	ENST00000319170.5	-	3	435	c.136A>C	c.(136-138)Aag>Cag	p.K46Q	RAPH1_ENST00000457812.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000453034.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000374489.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000374488.2_Missense_Mutation_p.K46Q|RAPH1_ENST00000374493.3_Missense_Mutation_p.K46Q|RAPH1_ENST00000308091.4_Missense_Mutation_p.K46Q|RAPH1_ENST00000439222.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000419464.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000418114.1_Missense_Mutation_p.K46Q|RAPH1_ENST00000423104.1_Missense_Mutation_p.K46Q	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	46					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCATGGGCTTGTCAGAATCC	0.318000													7	47					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11098575	11098575	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:11098575G>C	ENST00000358026.2	+	6	1377	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	SMARCA4_ENST00000344626.4_Missense_Mutation_p.E365Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E365Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E365Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E365Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E365Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	365					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGACCCTGTGGAGATCCTGCA	0.692000			"""F, N, Mis"""		NSCLC								8	12					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114451052	114451052	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr11:114451052C>T	ENST00000375478.3	-	5	1081	c.901G>A	c.(901-903)Gtt>Att	p.V301I	NXPE4_ENST00000424261.2_Missense_Mutation_p.V17I	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TTCATTGCAACTGTTTCTTCT	0.408000													27	36					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													8	521	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													11	184	---	---	---	---					
MAP7D1	55700	broad.mit.edu	37	1	36636625	36636626	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:36636625_36636626insC	ENST00000316156.4	+	2	553_554	c.100_101insC	c.(100-102)cccfs	p.P34fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P34fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P34fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	34	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGGTGACCCTTCCCCCCCACCA	0.594													7	192	---	---	---	---					
MAP7D1	55700	broad.mit.edu	37	1	36636763	36636764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:36636763_36636764insC	ENST00000316156.4	+	2	691_692	c.238_239insC	c.(238-240)cccfs	p.P80fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P80fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P80fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	80	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCTAGGCCAGCCCCCCCGCAG	0.653													18	171	---	---	---	---					
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)cccfs	p.P696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.470													27	1640	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													9	162	---	---	---	---					
INADL	10207	broad.mit.edu	37	1	62253579	62253580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:62253579_62253580insC	ENST00000371158.2	+	8	1117_1118	c.1003_1004insC	c.(1003-1005)cccfs	p.P335fs	INADL_ENST00000316485.6_Frame_Shift_Ins_p.P335fs	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	335					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATTTCAGTCACCCCCCCTGCC	0.505													7	72	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													13	138	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													10	247	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		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)		GAGGGGCTGATCCCCCCCTACG	0.559													7	106	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1795-1800)ccggggfs	p.PG599fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	599					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663													14	184	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													7	177	---	---	---	---					
FMOD	2331	broad.mit.edu	37	1	203316599	203316600	+	Frame_Shift_Ins	INS	-	-	C	rs139730140	byFrequency	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr1:203316599_203316600insC	ENST00000354955.4	-	2	1262_1263	c.799_800insG	c.(799-801)gccfs	p.A267fs	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	267					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGCTTGGGCGCCCCCCGGAAG	0.579													7	129	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								9	134	---	---	---	---					
SETD5	55209	broad.mit.edu	37	3	9517294	9517295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:9517294_9517295insC	ENST00000402466.1	+	24	4322_4323	c.3554_3555insC	c.(3553-3555)accfs	p.T1185fs	SETD5_ENST00000406341.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000402198.1_Frame_Shift_Ins_p.T1283fs|SETD5_ENST00000302463.6_Frame_Shift_Ins_p.T1185fs|SETD5_ENST00000407969.1_Frame_Shift_Ins_p.T1302fs			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1283	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGACCTGGAAACCCCCCCTCTC	0.550													9	363	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52610585	52610585	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr3:52610585delT	ENST00000356770.4	-	21	3569	c.3567delA	c.(3565-3567)gafs	p.E1190fs	PBRM1_ENST00000337303.4_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.E1237fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.E1197fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.E1237fs			Q86U86	PB1_HUMAN	polybromo 1	1222	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCAGGTTTCTTCCAGATTAC	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								26	49	---	---	---	---					
EVC	2121	broad.mit.edu	37	4	5798782	5798782	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:5798782delG	ENST00000382674.2	+	14	2104	c.1920delG	c.(1918-1920)ctfs	p.L642fs	EVC_ENST00000264956.6_Frame_Shift_Del_p.L642fs|EVC_ENST00000515113.1_3'UTR			P57679	EVC_HUMAN	Ellis van Creveld syndrome	642					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGCATGACCTGCTGTTGCGCT	0.647													19	73	---	---	---	---					
DCHS2	54798	broad.mit.edu	37	4	155287426	155287426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:155287426delC	ENST00000357232.3	-	5	629	c.630delG	c.(628-630)ggfs	p.G210fs	DCHS2_ENST00000339452.1_Frame_Shift_Del_p.G804fs	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	210	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGCCACTGTCCCATATATCC	0.473													7	125	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													7	197	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.500													7	311	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													7	267	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													9	201	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													10	89	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)cccfs	p.P308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	136	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)gggfs	p.G360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	360	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475													10	165	---	---	---	---					
SDK1	221935	broad.mit.edu	37	7	4008946	4008947	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:4008946_4008947insG	ENST00000404826.2	+	11	1743_1744	c.1604_1605insG	c.(1603-1605)tggfs	p.W535fs	SDK1_ENST00000389531.3_Frame_Shift_Ins_p.W535fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	535	Ig-like C2-type 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTCTTGAATCGGGGGGTCTAC	0.545													8	854	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													22	456	---	---	---	---					
TNPO3	23534	broad.mit.edu	37	7	128610258	128610259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr7:128610258_128610259insG	ENST00000393245.1	-	20	3016_3017	c.2643_2644insC	c.(2641-2646)ccatacfs	p.Y882fs	TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.Y784fs|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.Y882fs|TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.Y782fs|TNPO3_ENST00000265388.5_Frame_Shift_Ins_p.Y848fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	848					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGGC	0.485													13	236	---	---	---	---					
MAN1B1	11253	broad.mit.edu	37	9	139995547	139995548	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr9:139995547_139995548insG	ENST00000371589.4	+	7	1080_1081	c.1007_1008insG	c.(1006-1008)cggfs	p.R336fs	MAN1B1_ENST00000474902.1_Frame_Shift_Ins_p.R39fs	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	336					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATCCGCATCCTGGGGGGGCTCC	0.540													8	273	---	---	---	---					
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:51586311_51586312insC	ENST00000452682.1	+	10	2039_2040	c.1787_1788insC	c.(1786-1788)tccfs	p.S596fs	NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid								7	624	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													14	312	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													9	160	---	---	---	---					
TACC2	10579	broad.mit.edu	37	10	123844479	123844479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr10:123844479delC	ENST00000369005.1	+	4	2804	c.2464delC	c.(2464-2466)ccfs	p.P822fs	TACC2_ENST00000515273.1_Frame_Shift_Del_p.P822fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.P822fs|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Frame_Shift_Del_p.P822fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.P822fs|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	822						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)				ATCCGAGTGGCCCCTACTATC	0.577													8	40	---	---	---	---					
DENND5A	23258	broad.mit.edu	37	11	9167316	9167317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:9167316_9167317insC	ENST00000328194.3	-	17	3223_3224	c.2903_2904insG	c.(2902-2904)gtcfs	p.V968fs	DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.V968fs|DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.V311fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	968	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAACATGGAGCCCCCCAGCTT	0.480													7	543	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000278893.7_Intron|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													7	90	---	---	---	---					
MYO7A	4647	broad.mit.edu	37	11	76873960	76873961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr11:76873960_76873961insC	ENST00000409709.3	+	14	1888_1889	c.1616_1617insC	c.(1615-1617)accfs	p.T539fs	MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564													16	246	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													9	194	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			8	145	---	---	---	---					
ASCL4	121549	broad.mit.edu	37	12	108169501	108169502	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:108169501_108169502insG	ENST00000342331.4	+	1	1340_1341	c.509_510insG	c.(508-510)gggfs	p.G170fs		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	169					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GAGCCCGAGGAGGGGGGCAGCT	0.738													2	4	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													7	96	---	---	---	---					
PPP1R13B	23368	broad.mit.edu	37	14	104208221	104208222	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr14:104208221_104208222insG	ENST00000202556.9	-	11	2009_2010	c.1727_1728insC	c.(1726-1728)tagfs	p.*576fs	PPP1R13B_ENST00000423488.2_5'UTR|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	576	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ATATGGAACTTGAATTCACTGT	0.510													10	52	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													9	265	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)ccagcafs	p.A1430fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1430					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P1429P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCTCGGGGGGAAACA	0.450													8	343	---	---	---	---					
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)gtafs	p.V4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559													10	100	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs			O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629													7	156	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-114)tccfs	p.S38fs		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													8	219	---	---	---	---					
CAMTA2	23125	broad.mit.edu	37	17	4875737	4875738	+	Frame_Shift_Ins	INS	-	-	G	rs145218609		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:4875737_4875738insG	ENST00000361571.5	-	15	3005_3006	c.2594_2595insC	c.(2593-2595)cgcfs	p.R865fs	CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.R868fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.R889fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.R871fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGAGGTGCAGGGGGGGGACT	0.614													7	41	---	---	---	---					
PLSCR3	57048	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:7294058_7294059insC	ENST00000535512.1	-	10	1742_1743	c.725_726insG	c.(724-726)gctfs	p.A242fs	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	242					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				CTCGGACCAGGCCCCCCCACTG	0.614													7	196	---	---	---	---					
NEK8	284086	broad.mit.edu	37	17	27068995	27068996	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:27068995_27068996insC	ENST00000268766.6	+	15	2103_2104	c.2069_2070insC	c.(2068-2070)gccfs	p.A690fs	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	690						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P703fs*10(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GATGAGCCGGTCCCCCCCTGAG	0.584													9	197	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													24	386	---	---	---	---					
ETV4	2118	broad.mit.edu	37	17	41610700	41610701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:41610700_41610701insG	ENST00000319349.5	-	7	697_698	c.399_400insC	c.(397-402)ccgacafs	p.T134fs	ETV4_ENST00000538265.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000591713.1_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545954.1_Frame_Shift_Ins_p.T95fs|ETV4_ENST00000393664.2_Frame_Shift_Ins_p.T134fs|ETV4_ENST00000545089.1_Intron	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	134					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCGATTTGTCTGGGGGGGTCAT	0.579			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								7	74	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													8	349	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)ccaggafs	p.G21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569													7	163	---	---	---	---					
CDH19	28513	broad.mit.edu	37	18	64235860	64235860	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr18:64235860delT	ENST00000262150.2	-	3	575	c.283delA	c.(283-285)gafs	p.R95fs	CDH19_ENST00000540086.1_Frame_Shift_Del_p.R95fs	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	95	Cadherin 1.				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)				TCACCTGTTCTTTCATCAATG	0.418													16	62	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)ccaaccfs	p.T130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|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)	GAAAGGGGTTTGGGGGGGCTGT	0.495													10	163	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													7	131	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													9	299	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)ctgfs	p.L333fs	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.530													9	203	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													9	112	---	---	---	---					
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535													9	343	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)gccfs	p.A482fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								7	102	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	6a5969e6-52fc-42b9-8b42-41b9da41f6b3	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													9	155	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16262679	16262680	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr1:16262679_16262680insC	ENST00000375759.3	+	11	10148_10149	c.9944_9945insC	c.(9943-9945)cccfs	p.P3315fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3315	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGCACCTACCACCCCCCGGCCC	0.629													13	398	---	---	---	---					
ATP6V1B1	525	broad.mit.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr2:71191572_71191573insC	ENST00000234396.4	+	12	1221_1222	c.1148_1149insC	c.(1147-1149)tccfs	p.S383fs	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	137	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52610585	52610585	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr3:52610585delT	ENST00000356770.4	-	21	3569	c.3567delA	c.(3565-3567)gafs	p.E1190fs	PBRM1_ENST00000409114.3_Frame_Shift_Del_p.E1237fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.E1222fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.E1222fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.E1197fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.E1237fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.E1197fs			Q86U86	PB1_HUMAN	polybromo 1	1222	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GGCAGGTTTCTTCCAGATTAC	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								26	49	---	---	---	---					
EVC	2121	broad.mit.edu	37	4	5798782	5798782	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr4:5798782delG	ENST00000382674.2	+	14	2104	c.1920delG	c.(1918-1920)ctfs	p.L642fs	EVC_ENST00000264956.6_Frame_Shift_Del_p.L642fs|EVC_ENST00000515113.1_3'UTR			P57679	EVC_HUMAN	Ellis van Creveld syndrome	642					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGCATGACCTGCTGTTGCGCT	0.647													19	73	---	---	---	---					
DCHS2	54798	broad.mit.edu	37	4	155287426	155287426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr4:155287426delC	ENST00000357232.3	-	5	629	c.630delG	c.(628-630)ggfs	p.G210fs	DCHS2_ENST00000339452.1_Frame_Shift_Del_p.G804fs	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	210	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGCCACTGTCCCATATATCC	0.473													7	125	---	---	---	---					
TACC2	10579	broad.mit.edu	37	10	123844479	123844479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr10:123844479delC	ENST00000369005.1	+	4	2804	c.2464delC	c.(2464-2466)ccfs	p.P822fs	TACC2_ENST00000334433.3_Frame_Shift_Del_p.P822fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.P822fs|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Frame_Shift_Del_p.P822fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.P822fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	822						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)				ATCCGAGTGGCCCCTACTATC	0.577													8	40	---	---	---	---					
RP11-25I15.2	0	broad.mit.edu	37	12	43072603	43072603	+	RNA	DEL	T	T	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr12:43072603delT	ENST00000548764.1	+	0	465																											AGAACTCTGCttttttttttt	0.413													8	26	---	---	---	---					
ASCL4	121549	broad.mit.edu	37	12	108169501	108169502	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr12:108169501_108169502insG	ENST00000342331.4	+	1	1340_1341	c.509_510insG	c.(508-510)gggfs	p.G170fs		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	169					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GAGCCCGAGGAGGGGGGCAGCT	0.738													2	4	---	---	---	---					
PPP1R13B	23368	broad.mit.edu	37	14	104208221	104208222	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr14:104208221_104208222insG	ENST00000202556.9	-	11	2009_2010	c.1727_1728insC	c.(1726-1728)tagfs	p.*576fs	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	576	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ATATGGAACTTGAATTCACTGT	0.510													10	52	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)ccagcafs	p.A1430fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1430					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P1429P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCTCGGGGGGAAACA	0.450													8	343	---	---	---	---					
CDH19	28513	broad.mit.edu	37	18	64235860	64235860	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr18:64235860delT	ENST00000262150.2	-	3	575	c.283delA	c.(283-285)gafs	p.R95fs	CDH19_ENST00000540086.1_Frame_Shift_Del_p.R95fs	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	95	Cadherin 1.				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)				TCACCTGTTCTTTCATCAATG	0.418													16	62	---	---	---	---					
GIPC3	126326	broad.mit.edu	37	19	3589526	3589527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr19:3589526_3589527insG	ENST00000322315.5	+	4	723_724	c.678_679insG	c.(676-681)tcggggfs	p.SG226fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	226										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTCGTTCTGGGGGGGCTGC	0.609													7	59	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21186297	21186297	+	RNA	DEL	A	A	-	rs113583877		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr20:21186297delA	ENST00000591761.1	-	0	231				RP4-777D9.2_ENST00000443753.1_RNA|PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA																							atttttatttaaaaaaaaaaa	0.423													3	5	---	---	---	---					
PRR14L	253143	broad.mit.edu	37	22	32099548	32099549	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chr22:32099548_32099549insG	ENST00000327423.6	-	6	6176_6177	c.5987_5988insC	c.(5986-5988)cgafs	p.R1996fs	PRR14L_ENST00000397493.2_Frame_Shift_Ins_p.R1996fs|PRR14L_ENST00000434485.1_Frame_Shift_Ins_p.R1996fs	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1996										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CTTTCTGTTCTGGGGGGCTGCT	0.535													8	320	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-A3-3322-01A-01W-0886-08	TCGA-A3-3322-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05293342-027e-412b-ba3e-4be443ab44fe	405fb874-d2ab-451a-9123-77596d75b752	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3	---	---	---	---