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_status	validation_method	validation_tumor_sample	validation_alt_allele	filter
ORC1L	4998	broad.mit.edu	37	1	52859253	52859253	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:52859253C>T	uc001ctt.2	-	6	1163	c.944G>A	c.(943-945)CGC>CAC	p.R315H	ORC1L_uc010oni.1_Missense_Mutation_p.R315H|ORC1L_uc001ctu.2_Missense_Mutation_p.R315H|ORC1L_uc009vzd.2_Missense_Mutation_p.R69H	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	315					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						CAGGATTATGCGATGTTCAGG	0.468													4	237	---	---	---	---	PASS
FAM159A	348378	broad.mit.edu	37	1	53099337	53099337	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:53099337T>A	uc001cuf.2	+	1	272	c.172T>A	c.(172-174)TGG>AGG	p.W58R	FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	hypothetical protein LOC348378	58	Helical; (Potential).					integral to membrane					0						CAGCTACATGTGGTGGCTCAG	0.577													41	110	---	---	---	---	PASS
ROR1	4919	broad.mit.edu	37	1	64643305	64643305	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:64643305G>A	uc001dbj.2	+	9	1980	c.1581G>A	c.(1579-1581)ATG>ATA	p.M527I	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	527	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						CCTCCCTAATGGCAGAACTGC	0.488													360	196	---	---	---	---	PASS
SLC44A5	204962	broad.mit.edu	37	1	75679476	75679476	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:75679476C>A	uc001dgu.2	-	22	2020	c.1876G>T	c.(1876-1878)GTT>TTT	p.V626F	SLC44A5_uc001dgt.2_Missense_Mutation_p.V626F|SLC44A5_uc001dgs.2_Missense_Mutation_p.V584F|SLC44A5_uc001dgr.2_Missense_Mutation_p.V584F|SLC44A5_uc010oqz.1_Missense_Mutation_p.V665F|SLC44A5_uc010ora.1_Missense_Mutation_p.V620F|SLC44A5_uc010orb.1_Missense_Mutation_p.V496F	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	626	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						AAGGCCAGAACACCTACATTG	0.348													45	36	---	---	---	---	PASS
MSH4	4438	broad.mit.edu	37	1	76363642	76363642	+	Silent	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:76363642C>T	uc001dhd.1	+	18	2447	c.2406C>T	c.(2404-2406)GCC>GCT	p.A802A		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	802					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						ATATTGATGCCCTGTATCCTA	0.308								MMR					33	16	---	---	---	---	PASS
CLCA2	9635	broad.mit.edu	37	1	86921073	86921073	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:86921073G>A	uc001dlr.3	+	14	2857	c.2695G>A	c.(2695-2697)GAT>AAT	p.D899N		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	899	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACCTGCCAGAGATTATCTTAT	0.398													47	335	---	---	---	---	PASS
CLCA4	22802	broad.mit.edu	37	1	87025691	87025691	+	Nonsense_Mutation	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:87025691T>G	uc009wcs.2	+	2	280	c.236T>G	c.(235-237)TTA>TGA	p.L79*	CLCA4_uc009wct.2_Translation_Start_Site|CLCA4_uc009wcu.2_Translation_Start_Site	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	79						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GTATCTATATTAATTCCTGAG	0.294													14	70	---	---	---	---	PASS
RPL5	6125	broad.mit.edu	37	1	93301883	93301883	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:93301883C>T	uc001doz.2	+	5	539	c.461C>T	c.(460-462)ACC>ATC	p.T154I	FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.T104I|RPL5_uc001dpd.2_5'UTR|SNORD21_uc001dpe.2_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	ribosomal protein L5	154					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome				0		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GCCAGAACTACCACTGGCAAT	0.498													58	110	---	---	---	---	PASS
ABCA4	24	broad.mit.edu	37	1	94461693	94461693	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:94461693C>G	uc001dqh.2	-	49	6892	c.6788G>C	c.(6787-6789)CGA>CCA	p.R2263P		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	2263	Cytoplasmic.		R -> L (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCAGCAGCTCGAGGGTGCAG	0.527													12	34	---	---	---	---	PASS
HBXIP	10542	broad.mit.edu	37	1	110950301	110950301	+	Missense_Mutation	SNP	C	A	A	rs140594819		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:110950301C>A	uc001dzr.2	-	1	246	c.188G>T	c.(187-189)TGT>TTT	p.C63F		NM_006402	NP_006393	O43504	HBXIP_HUMAN	hepatitis B virus x-interacting protein	Error:Variant_position_missing_in_O43504_after_alignment					anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding			large_intestine(1)|ovary(1)|pancreas(1)	3		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTCTCCACCACAGGCCTCAGT	0.602													75	12	---	---	---	---	PASS
S100A10	6281	broad.mit.edu	37	1	151955756	151955756	+	Silent	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:151955756C>T	uc001ezl.2	-	3	685	c.177G>A	c.(175-177)CTG>CTA	p.L59L		NM_002966	NP_002957	P60903	S10AA_HUMAN	S100 calcium binding protein A10	59					signal transduction		calcium ion binding|receptor binding				0	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TACACTGGTCCAGGTCCTTCA	0.428													45	73	---	---	---	---	PASS
FCRL3	115352	broad.mit.edu	37	1	157666083	157666083	+	Silent	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:157666083C>A	uc001frb.2	-	7	1171	c.879G>T	c.(877-879)CGG>CGT	p.R293R	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.R293R|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.R19R|FCRL3_uc001frc.1_Silent_p.R293R	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	293	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					CTCCGGTGGGCCGGATCTCTA	0.522													72	76	---	---	---	---	PASS
SLAMF6	114836	broad.mit.edu	37	1	160465888	160465888	+	Silent	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:160465888G>T	uc001fwe.1	-	2	405	c.345C>A	c.(343-345)ACC>ACA	p.T115T	SLAMF6_uc001fwd.1_Silent_p.T115T|SLAMF6_uc010pjh.1_Silent_p.T66T|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Silent_p.T66T	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	115	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GCTTTGCAGAGGTCTTTGTGG	0.428													42	77	---	---	---	---	PASS
C1orf112	55732	broad.mit.edu	37	1	169775194	169775194	+	Silent	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:169775194T>C	uc001ggp.2	+	8	838	c.528T>C	c.(526-528)CAT>CAC	p.H176H	C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Silent_p.H176H|C1orf112_uc009wvt.2_5'UTR|C1orf112_uc010plu.1_Silent_p.H147H|C1orf112_uc009wvu.1_Silent_p.H147H|C1orf112_uc001ggr.2_Silent_p.H41H|C1orf112_uc010plv.1_Silent_p.H118H	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732	176											0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTATGGACCATGCATTTCATG	0.299													4	9	---	---	---	---	PASS
KIFAP3	22920	broad.mit.edu	37	1	170024518	170024518	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:170024518T>C	uc001ggv.2	-	2	363	c.92A>G	c.(91-93)TAT>TGT	p.Y31C	KIFAP3_uc010ply.1_5'UTR|KIFAP3_uc001ggw.1_Intron	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	31					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCCACTTCATAGTGAACAAT	0.338													14	18	---	---	---	---	PASS
FMO2	2327	broad.mit.edu	37	1	171154984	171154984	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:171154984A>T	uc001ghk.1	+	2	249	c.132A>T	c.(130-132)AAA>AAT	p.K44N	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	44					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGAGGTTCAAAGTAAGTGAGA	0.418													9	228	---	---	---	---	PASS
FMO1	2326	broad.mit.edu	37	1	171251339	171251339	+	Silent	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:171251339C>A	uc009wvz.2	+	7	1186	c.1050C>A	c.(1048-1050)GCC>GCA	p.A350A	FMO1_uc010pme.1_Silent_p.A287A|FMO1_uc001ghl.2_Silent_p.A350A|FMO1_uc001ghm.2_Silent_p.A350A|FMO1_uc001ghn.2_Silent_p.A350A	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	350					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGCCAGGCCTCACTGTACA	0.463													62	59	---	---	---	---	PASS
ASTN1	460	broad.mit.edu	37	1	176838084	176838084	+	Silent	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:176838084C>A	uc001glc.2	-	22	3755	c.3543G>T	c.(3541-3543)CTG>CTT	p.L1181L	ASTN1_uc001glb.1_Silent_p.L1181L|ASTN1_uc001gld.1_Silent_p.L1181L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1189					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						AACCCAGATCCAGGAGGGTGT	0.502													32	38	---	---	---	---	PASS
PRG4	10216	broad.mit.edu	37	1	186276446	186276446	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:186276446C>G	uc001gru.3	+	7	1646	c.1595C>G	c.(1594-1596)ACC>AGC	p.T532S	PRG4_uc001grt.3_Missense_Mutation_p.T491S|PRG4_uc009wyl.2_Missense_Mutation_p.T439S|PRG4_uc009wym.2_Missense_Mutation_p.T398S|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	532	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|24; approximate.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TCTGCACCCACCACTACCAAG	0.642													73	91	---	---	---	---	PASS
CFHR2	3080	broad.mit.edu	37	1	196918750	196918750	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:196918750A>G	uc001gtq.1	+	2	301	c.224A>G	c.(223-225)GAA>GGA	p.E75G	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	H factor (complement)-like 3 precursor	75	Sushi 1.					extracellular region				skin(2)|ovary(1)	3						TGCGCAGAAGAAGGATGGTCA	0.403													11	14	---	---	---	---	PASS
CACNA1S	779	broad.mit.edu	37	1	201009495	201009495	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:201009495C>A	uc001gvv.2	-	43	5461	c.5234G>T	c.(5233-5235)AGG>ATG	p.R1745M		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1745	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGACTCCACCCTGGGGCACTG	0.552													15	13	---	---	---	---	PASS
USH2A	7399	broad.mit.edu	37	1	215956148	215956148	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:215956148G>T	uc001hku.1	-	53	10904	c.10517C>A	c.(10516-10518)ACG>AAG	p.T3506K		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3506	Extracellular (Potential).|Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTGGTCCACGTAGGGGGACT	0.408										HNSCC(13;0.011)			16	33	---	---	---	---	PASS
HHIPL2	79802	broad.mit.edu	37	1	222713639	222713639	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:222713639G>C	uc001hnh.1	-	4	1221	c.1163C>G	c.(1162-1164)GCA>GGA	p.A388G		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	388					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		ATGTGAGCCTGCCCTGTTCAC	0.522													14	73	---	---	---	---	PASS
MTR	4548	broad.mit.edu	37	1	237044071	237044071	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:237044071A>C	uc001hyi.3	+	25	3034	c.2611A>C	c.(2611-2613)AAA>CAA	p.K871Q	MTR_uc010pxw.1_Missense_Mutation_p.K464Q|MTR_uc010pxx.1_Missense_Mutation_p.K820Q|MTR_uc010pxy.1_Missense_Mutation_p.K725Q	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	871	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CACAGCAGTTAAAATAGCTCC	0.433													14	70	---	---	---	---	PASS
TRIM58	25893	broad.mit.edu	37	1	248028195	248028195	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:248028195G>T	uc001ido.2	+	3	753	c.705G>T	c.(703-705)GAG>GAT	p.E235D		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	235	Potential.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGCGGATGAGCTGCAGGAGA	0.662													7	1	---	---	---	---	PASS
OTOF	9381	broad.mit.edu	37	2	26695482	26695482	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:26695482C>A	uc002rhk.2	-	30	3896	c.3769G>T	c.(3769-3771)GGG>TGG	p.G1257W	OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Intron|OTOF_uc002rhi.2_Missense_Mutation_p.G567W|OTOF_uc002rhj.2_Intron	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1257	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGAGCCCCCATTGCACAGC	0.577													43	32	---	---	---	---	PASS
KHK	3795	broad.mit.edu	37	2	27322328	27322328	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:27322328G>T	uc002ril.2	+	7	1211	c.694G>T	c.(694-696)GCC>TCC	p.A232S	KHK_uc002rim.2_Missense_Mutation_p.A232S|KHK_uc002rin.2_Missense_Mutation_p.A233S|KHK_uc002rio.2_Missense_Mutation_p.A148S|CGREF1_uc010ylf.1_3'UTR|CGREF1_uc002rip.1_3'UTR	NM_000221	NP_000212	P50053	KHK_HUMAN	ketohexokinase isoform a	232					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCGCCGACGCCCTGGGCCC	0.652													31	124	---	---	---	---	PASS
C2orf16	84226	broad.mit.edu	37	2	27802639	27802639	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:27802639T>A	uc002rkz.3	+	1	3251	c.3200T>A	c.(3199-3201)CTC>CAC	p.L1067H		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1067										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CAACACTCCCTCAAGCCAAAT	0.428													79	75	---	---	---	---	PASS
CCDC121	79635	broad.mit.edu	37	2	27850557	27850557	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:27850557C>G	uc002rle.2	-	2	291	c.110G>C	c.(109-111)AGA>ACA	p.R37T	ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.R201T|CCDC121_uc002rld.2_Missense_Mutation_p.R199T|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121 isoform 3	37											0	Acute lymphoblastic leukemia(172;0.155)					CAGAAAGAATCTGTTTTCAGC	0.423													139	139	---	---	---	---	PASS
CDC42EP3	10602	broad.mit.edu	37	2	37873049	37873049	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:37873049T>A	uc002rqi.1	-	2	1675	c.682A>T	c.(682-684)ACA>TCA	p.T228S		NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Cdc42 effector protein 3	228					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding				0		all_hematologic(82;0.172)				AGGGAACCTGTAAGGTCAGAG	0.498													47	75	---	---	---	---	PASS
NRXN1	9378	broad.mit.edu	37	2	50464025	50464025	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:50464025C>A	uc010fbp.2	-	2	1150	c.343G>T	c.(343-345)GAC>TAC	p.D115Y	NRXN1_uc002rxb.3_Missense_Mutation_p.D822Y|NRXN1_uc010fbq.2_Missense_Mutation_p.D1190Y|NRXN1_uc002rxe.3_Missense_Mutation_p.D1150Y|NRXN1_uc002rxc.1_RNA	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	115	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCAGTCTGTCTGCTCGTGTA	0.468													26	58	---	---	---	---	PASS
SPTBN1	6711	broad.mit.edu	37	2	54856704	54856704	+	Silent	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:54856704C>G	uc002rxu.2	+	14	2682	c.2433C>G	c.(2431-2433)CCC>CCG	p.P811P	SPTBN1_uc002rxv.1_Silent_p.P811P|SPTBN1_uc002rxx.2_Silent_p.P798P	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	811	Spectrin 5.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GCGCCCTCCCCCAGGAGCATG	0.627													24	179	---	---	---	---	PASS
COMMD1	150684	broad.mit.edu	37	2	62228006	62228006	+	Silent	SNP	C	T	T	rs150966526		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:62228006C>T	uc002sbp.2	+	2	362	c.351C>T	c.(349-351)AGC>AGT	p.S117S	COMMD1_uc002sbq.1_RNA	NM_152516	NP_689729	Q8N668	COMD1_HUMAN	MURR1	117					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			ovary(1)	1	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GCTGGAATAGCGGGCTTCGGG	0.507													4	128	---	---	---	---	PASS
TET3	200424	broad.mit.edu	37	2	74328283	74328283	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:74328283G>C	uc002skb.3	+	9	3963	c.3963G>C	c.(3961-3963)TGG>TGC	p.W1321C		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1321							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GTGGCAGCTGGGGTGTGTTCT	0.607													14	76	---	---	---	---	PASS
RTKN	6242	broad.mit.edu	37	2	74659630	74659630	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:74659630C>A	uc002sle.2	-	2	392	c.275G>T	c.(274-276)CGC>CTC	p.R92L	RTKN_uc002slc.2_Missense_Mutation_p.R79L|RTKN_uc002sld.2_Missense_Mutation_p.R42L|RTKN_uc010ffe.1_Missense_Mutation_p.R92L|RTKN_uc010fff.1_Missense_Mutation_p.R79L|RTKN_uc010ffg.1_Missense_Mutation_p.R92L	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN	rhotekin isoform a	92	REM.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			skin(1)	1						CGCCTCCTTGCGCCGCTGCAG	0.672													234	163	---	---	---	---	PASS
ACOXL	55289	broad.mit.edu	37	2	111551742	111551742	+	Silent	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:111551742C>G	uc002tgr.3	+	5	560	c.336C>G	c.(334-336)CTC>CTG	p.L112L	ACOXL_uc010fkc.2_Silent_p.L112L|ACOXL_uc010yxk.1_Silent_p.L112L	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	112					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						CCTTTGACCTCTCTGCCCAGG	0.552													23	48	---	---	---	---	PASS
EPB41L5	57669	broad.mit.edu	37	2	120889260	120889260	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:120889260G>T	uc002tmg.2	+	18	1694	c.1568G>T	c.(1567-1569)CGA>CTA	p.R523L	EPB41L5_uc010fll.2_Missense_Mutation_p.R523L|EPB41L5_uc010flm.2_Missense_Mutation_p.R327L	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	523						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						CTGTCCCCTCGATCCAACATC	0.408													20	19	---	---	---	---	PASS
CNTNAP5	129684	broad.mit.edu	37	2	125261961	125261961	+	Silent	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:125261961C>A	uc002tno.2	+	8	1516	c.1152C>A	c.(1150-1152)CCC>CCA	p.P384P	CNTNAP5_uc010flu.2_Silent_p.P385P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	384	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCGGCACCCCCCAAATTGATG	0.537													35	26	---	---	---	---	PASS
GYPC	2995	broad.mit.edu	37	2	127451481	127451481	+	Missense_Mutation	SNP	G	C	C	rs114199197	by1000genomes	TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:127451481G>C	uc002tnq.2	+	3	304	c.148G>C	c.(148-150)GAG>CAG	p.E50Q	GYPC_uc002tnr.2_Missense_Mutation_p.E31Q|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	50	Extracellular.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		TGGCAGAATGGAGACCTCCAC	0.547													17	62	---	---	---	---	PASS
IWS1	55677	broad.mit.edu	37	2	128281368	128281368	+	Splice_Site	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:128281368C>G	uc002ton.2	-	2	338	c.35_splice	c.e2-1	p.D12_splice	IWS1_uc010yzl.1_Splice_Site|IWS1_uc010fma.2_Intron	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog						transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CCACCATCATCTGATTAAAAA	0.408													7	149	---	---	---	---	PASS
CXCR4	7852	broad.mit.edu	37	2	136873055	136873055	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:136873055C>T	uc002tuz.2	-	2	538	c.443G>A	c.(442-444)AGG>AAG	p.R148K	CXCR4_uc002tuy.2_Missense_Mutation_p.R152K|CXCR4_uc010fnk.2_Missense_Mutation_p.R133K	NM_003467	NP_003458	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4 isoform b	148	Cytoplasmic.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CAACAGCTTCCTTGGCCTCTG	0.547													41	141	---	---	---	---	PASS
SPOPL	339745	broad.mit.edu	37	2	139316613	139316613	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:139316613G>A	uc002tvh.2	+	6	902	c.502G>A	c.(502-504)GTA>ATA	p.V168I		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	168						nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		CCAAGATTCAGTAAACATATC	0.338													12	31	---	---	---	---	PASS
LRP1B	53353	broad.mit.edu	37	2	140990873	140990873	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:140990873A>T	uc002tvj.1	-	91	14654	c.13682T>A	c.(13681-13683)GTA>GAA	p.V4561E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4561	Endocytosis signal (Potential).|Cytoplasmic (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTGCATATACCGGATTGGA	0.323										TSP Lung(27;0.18)			9	11	---	---	---	---	PASS
NEB	4703	broad.mit.edu	37	2	152373009	152373009	+	Silent	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:152373009G>A	uc010fnx.2	-	129	17957	c.17766C>T	c.(17764-17766)TAC>TAT	p.Y5922Y	NEB_uc002txr.2_Silent_p.Y2345Y|NEB_uc002txt.3_Silent_p.Y427Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5922	Nebulin 162.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGCAGTGATGTACGTTGGTG	0.433													12	23	---	---	---	---	PASS
BAZ2B	29994	broad.mit.edu	37	2	160289371	160289371	+	Silent	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:160289371G>C	uc002uao.2	-	9	2149	c.1797C>G	c.(1795-1797)CCC>CCG	p.P599P	BAZ2B_uc002uap.2_Silent_p.P597P|BAZ2B_uc002uas.1_Silent_p.P536P|BAZ2B_uc002uaq.1_Silent_p.P527P|BAZ2B_uc002uar.1_Silent_p.P172P	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	599	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CTTTACTACTGGGAATGTCTG	0.269													19	29	---	---	---	---	PASS
GRB14	2888	broad.mit.edu	37	2	165378553	165378553	+	Nonsense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:165378553C>T	uc002ucl.2	-	6	1294	c.753G>A	c.(751-753)TGG>TGA	p.W251*	GRB14_uc010zcv.1_Nonsense_Mutation_p.W164*|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	251	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						AAATTTTTTTCCAAGACTTCT	0.294													7	4	---	---	---	---	PASS
SCN9A	6335	broad.mit.edu	37	2	167133841	167133841	+	Silent	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:167133841G>T	uc010fpl.2	-	16	2834	c.2493C>A	c.(2491-2493)GTC>GTA	p.V831V	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	842	II.|Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAACTTGAAGACTCGGAGCT	0.368													12	32	---	---	---	---	PASS
HOXD12	3238	broad.mit.edu	37	2	176964762	176964762	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:176964762C>T	uc010zev.1	+	1	233	c.233C>T	c.(232-234)GCT>GTT	p.A78V	HOXD12_uc010zew.1_Missense_Mutation_p.A78V	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	78						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCCTACCTGGCTGGCTCCGGG	0.751													4	1	---	---	---	---	PASS
PDE11A	50940	broad.mit.edu	37	2	178879150	178879150	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:178879150C>G	uc002ulq.2	-	2	1268	c.950G>C	c.(949-951)GGA>GCA	p.G317A	PDE11A_uc002ulr.2_Missense_Mutation_p.G67A|PDE11A_uc002ult.1_Missense_Mutation_p.G67A	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	317	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGTCTTGTATCCAGTTAGCTT	0.408									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				20	9	---	---	---	---	PASS
PLEKHA3	65977	broad.mit.edu	37	2	179365792	179365792	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:179365792A>T	uc002umn.2	+	7	1062	c.664A>T	c.(664-666)AGC>TGC	p.S222C		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	222						cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TTGCAGGAGTAGCCACTCTAT	0.363													14	27	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179594842	179594842	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:179594842G>T	uc010zfg.1	-	59	14777	c.14553C>A	c.(14551-14553)AGC>AGA	p.S4851R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1512R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5778							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTGGCTTTGCTGGTTGCTG	0.502													6	20	---	---	---	---	PASS
AOX1	316	broad.mit.edu	37	2	201531423	201531423	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:201531423A>G	uc002uvx.2	+	32	3658	c.3557A>G	c.(3556-3558)GAC>GGC	p.D1186G	AOX1_uc010zhf.1_Missense_Mutation_p.D742G|AOX1_uc010fsu.2_Missense_Mutation_p.D552G	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	1186					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATCAGAACAGACATTGTCATG	0.373													9	29	---	---	---	---	PASS
TTLL4	9654	broad.mit.edu	37	2	219603360	219603360	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:219603360C>G	uc002viy.2	+	3	1331	c.961C>G	c.(961-963)CTG>GTG	p.L321V	TTLL4_uc010zkl.1_Missense_Mutation_p.L156V|TTLL4_uc010fvx.2_Missense_Mutation_p.L321V	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	321					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TTCCTGTGCTCTGGATGACAG	0.532													3	175	---	---	---	---	PASS
INHA	3623	broad.mit.edu	37	2	220439984	220439984	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:220439984G>T	uc002vmk.1	+	2	981	c.837G>T	c.(835-837)TGG>TGT	p.W279C		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	279					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGAACGGTGGATCGTGTACC	0.607													72	59	---	---	---	---	PASS
GPC1	2817	broad.mit.edu	37	2	241398478	241398478	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:241398478C>A	uc002vyw.3	+	2	419	c.198C>A	c.(196-198)TAC>TAA	p.Y66*	PP14571_uc002vyy.1_5'Flank	NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	66					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CCCAGGGCTACACCTGCTGCA	0.682													3	40	---	---	---	---	PASS
BRPF1	7862	broad.mit.edu	37	3	9781412	9781412	+	Silent	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:9781412C>T	uc003bse.2	+	3	1728	c.1329C>T	c.(1327-1329)TAC>TAT	p.Y443Y	BRPF1_uc003bsf.2_Silent_p.Y443Y|BRPF1_uc003bsg.2_Silent_p.Y443Y|BRPF1_uc011ati.1_Silent_p.Y443Y	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	443					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					AGACAGCCTACTGCGACATCC	0.502													12	7	---	---	---	---	PASS
ATP2B2	491	broad.mit.edu	37	3	10417275	10417275	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:10417275C>T	uc003bvt.2	-	11	1694	c.1255G>A	c.(1255-1257)GAC>AAC	p.D419N	ATP2B2_uc003bvv.2_Missense_Mutation_p.D374N|ATP2B2_uc003bvw.2_Missense_Mutation_p.D374N|ATP2B2_uc010hdo.2_Missense_Mutation_p.D124N	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	419	Extracellular (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ACGAAGGTGTCCACAGTGAAG	0.557													46	8	---	---	---	---	PASS
XPC	7508	broad.mit.edu	37	3	14200326	14200326	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:14200326C>A	uc011ave.1	-	9	1161	c.1057G>T	c.(1057-1059)GTT>TTT	p.V353F	XPC_uc011avf.1_Missense_Mutation_p.V160F|XPC_uc011avg.1_Missense_Mutation_p.V316F	NM_004628	NP_004619	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	353					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			ovary(2)|breast(1)	3						TTTTCTAGAACTTGGCTGGAA	0.443			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				49	12	---	---	---	---	PASS
DLEC1	9940	broad.mit.edu	37	3	38081085	38081085	+	Silent	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:38081085C>T	uc003cho.1	+	1	390	c.369C>T	c.(367-369)AGC>AGT	p.S123S	DLEC1_uc003chp.1_Silent_p.S123S|DLEC1_uc010hgv.1_Silent_p.S123S	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	123					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCGCGGCAGCGAGAATGAGC	0.642													8	115	---	---	---	---	PASS
SLC22A13	9390	broad.mit.edu	37	3	38307523	38307523	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:38307523C>T	uc003chz.3	+	1	226	c.172C>T	c.(172-174)CAC>TAC	p.H58Y	SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Missense_Mutation_p.H58Y	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion	58	Extracellular (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGTGAAGAACCACACTTTCAA	0.572													40	14	---	---	---	---	PASS
TTC21A	199223	broad.mit.edu	37	3	39159565	39159565	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:39159565T>C	uc003cjc.2	+	7	899	c.722T>C	c.(721-723)CTA>CCA	p.L241P	TTC21A_uc003cja.2_Missense_Mutation_p.L241P|TTC21A_uc010hho.1_Missense_Mutation_p.L163P|TTC21A_uc003cjb.2_Silent_p.P107P|TTC21A_uc003cje.2_Missense_Mutation_p.L241P|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.L200P	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	241	TPR 5.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTCAGAATCCTAGAAAAAGAT	0.348													3	79	---	---	---	---	PASS
CCK	885	broad.mit.edu	37	3	42299721	42299721	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:42299721G>T	uc003clc.1	-	3	426	c.217C>A	c.(217-219)CCT>ACT	p.P73T	CCK_uc003cld.1_Missense_Mutation_p.P73T	NM_000729	NP_000720	P06307	CCKN_HUMAN	cholecystokinin preproprotein	73					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)	1		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CGTCCAGAAGGAGCTACAAGG	0.438													37	8	---	---	---	---	PASS
KIF15	56992	broad.mit.edu	37	3	44816805	44816805	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:44816805G>C	uc003cnx.3	+	3	271	c.122G>C	c.(121-123)GGG>GCG	p.G41A	KIF15_uc010hiq.2_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	41	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAGATCTGGGTCAGCTGAT	0.443													7	119	---	---	---	---	PASS
WDR6	11180	broad.mit.edu	37	3	49051126	49051126	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:49051126G>C	uc003cvj.2	+	2	2387	c.2249G>C	c.(2248-2250)GGA>GCA	p.G750A	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.G198A|WDR6_uc010hkn.2_Missense_Mutation_p.G694A|WDR6_uc011bbz.1_Missense_Mutation_p.G669A	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	720					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCTGAATATGGAGTGCCCAGC	0.577											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	6	---	---	---	---	PASS
GPR128	84873	broad.mit.edu	37	3	100364825	100364825	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:100364825A>T	uc003duc.2	+	9	1251	c.983A>T	c.(982-984)AAT>ATT	p.N328I	GPR128_uc011bhc.1_Missense_Mutation_p.N29I	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	328	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						GTTTATCAAAATGACAAGCTT	0.313													11	53	---	---	---	---	PASS
CASR	846	broad.mit.edu	37	3	122003505	122003505	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:122003505C>G	uc003eev.3	+	7	3076	c.2704C>G	c.(2704-2706)CTT>GTT	p.L902V	CASR_uc003eew.3_Missense_Mutation_p.L912V	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	902	Cytoplasmic (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTCCAGCAGCCTTGGAGGCTC	0.662													18	71	---	---	---	---	PASS
NUDT16	131870	broad.mit.edu	37	3	131101028	131101028	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:131101028A>C	uc003eof.2	+	2	219	c.178A>C	c.(178-180)ACT>CCT	p.T60P	uc003eoc.1_5'Flank|NUDT16_uc011bln.1_Missense_Mutation_p.T47P|NUDT16_uc003eog.1_Missense_Mutation_p.T60P	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN	nudix-type motif 16	93	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding				0						CGTGGAGCGCACTGACTACCG	0.672													13	63	---	---	---	---	PASS
NMNAT3	349565	broad.mit.edu	37	3	139279867	139279867	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:139279867C>G	uc003etj.2	-	4	784	c.744G>C	c.(742-744)GAG>GAC	p.E248D	NMNAT3_uc003etk.2_Missense_Mutation_p.E211D|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Missense_Mutation_p.E159D	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	nicotinamide mononucleotide adenylyltransferase	248					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0						TTGTCTTGCCCTCAGTGCTCT	0.527													90	115	---	---	---	---	PASS
PLSCR4	57088	broad.mit.edu	37	3	145913054	145913054	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:145913054C>T	uc010huy.2	-	8	1131	c.802G>A	c.(802-804)GGC>AGC	p.G268S	PLSCR4_uc010huz.2_Missense_Mutation_p.G268S|PLSCR4_uc003evt.3_Missense_Mutation_p.G268S|PLSCR4_uc010hva.2_Missense_Mutation_p.G178S|PLSCR4_uc003evu.3_Missense_Mutation_p.G163S	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4 isoform a	268	Cytoplasmic (By similarity).				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding				0						TTGGATATGCCATCAAGGGAT	0.398													38	67	---	---	---	---	PASS
SI	6476	broad.mit.edu	37	3	164786518	164786518	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:164786518G>C	uc003fei.2	-	5	537	c.475C>G	c.(475-477)CGG>GGG	p.R159G		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	159	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCTTGAACCGGAAACGATTG	0.284										HNSCC(35;0.089)			43	102	---	---	---	---	PASS
ATP11B	23200	broad.mit.edu	37	3	182616502	182616502	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:182616502A>G	uc003flb.2	+	28	3517	c.3260A>G	c.(3259-3261)GAT>GGT	p.D1087G	ATP11B_uc003flc.2_Missense_Mutation_p.D671G|ATP11B_uc010hxg.2_RNA|ATP11B_uc010hxh.1_Missense_Mutation_p.D29G	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1087	Helical; (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTATTTCTTGATATCATAAAG	0.373													24	80	---	---	---	---	PASS
HTR3E	285242	broad.mit.edu	37	3	183818284	183818284	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:183818284A>C	uc010hxq.2	+	2	545	c.79A>C	c.(79-81)ACT>CCT	p.T27P	HTR3E_uc003fml.3_Missense_Mutation_p.T27P|HTR3E_uc003fmm.2_Missense_Mutation_p.T42P|HTR3E_uc010hxr.2_Missense_Mutation_p.T42P|HTR3E_uc003fmn.2_Missense_Mutation_p.T42P	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	27	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AAGGGGCGTTACTTTCACCAT	0.557													5	724	---	---	---	---	PASS
BCL6	604	broad.mit.edu	37	3	187451445	187451445	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:187451445G>C	uc003frp.3	-	3	494	c.37C>G	c.(37-39)CGC>GGC	p.R13G	BCL6_uc011bsf.1_Missense_Mutation_p.R13G|BCL6_uc010hza.2_5'UTR|BCL6_uc003frq.1_Missense_Mutation_p.R13G	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	13					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGGCATGGCGGGTGAACTGG	0.493			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL								44	71	---	---	---	---	PASS
FBXO45	200933	broad.mit.edu	37	3	196304528	196304528	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr3:196304528A>T	uc010iai.2	+	2	654	c.523A>T	c.(523-525)ACA>TCA	p.T175S		NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	F-box protein 45	175	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			skin(1)	1	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGGAATTGCCACAAAACGGGC	0.547													7	46	---	---	---	---	PASS
NOP14	8602	broad.mit.edu	37	4	2951818	2951818	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:2951818G>C	uc003ggj.1	-	8	1197	c.1125C>G	c.(1123-1125)AGC>AGG	p.S375R	C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.S121R|NOP14_uc003ggk.3_Missense_Mutation_p.S375R|NOP14_uc003ggl.2_Missense_Mutation_p.S375R	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	375					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						GGCTATCTGGGCTGTCGCTCT	0.537													12	483	---	---	---	---	PASS
SLIT2	9353	broad.mit.edu	37	4	20611673	20611673	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:20611673G>T	uc003gpr.1	+	34	3934	c.3730G>T	c.(3730-3732)GAA>TAA	p.E1244*	SLIT2_uc003gps.1_Nonsense_Mutation_p.E1236*	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1244	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CCACATTGTGGAACTACTTGC	0.398													30	51	---	---	---	---	PASS
RHOH	399	broad.mit.edu	37	4	40245254	40245254	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:40245254A>G	uc003guz.2	+	3	972	c.248A>G	c.(247-249)TAC>TGC	p.Y83C		NM_004310	NP_004301	Q15669	RHOH_HUMAN	ras homolog gene family, member H precursor	83	Interaction with ZAP70 (By similarity).				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			ovary(1)|lung(1)	2						CTGATGTGCTACTCTGTGGCC	0.562													67	43	---	---	---	---	PASS
DCAF4L1	285429	broad.mit.edu	37	4	41984446	41984446	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:41984446G>A	uc003gwk.2	+	1	734	c.637G>A	c.(637-639)GTG>ATG	p.V213M		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	213										skin(1)	1						GTTGACCAGCGTGGCGACGGG	0.567													248	203	---	---	---	---	PASS
CORIN	10699	broad.mit.edu	37	4	47667163	47667163	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:47667163G>C	uc003gxm.2	-	11	1568	c.1475C>G	c.(1474-1476)TCT>TGT	p.S492C	CORIN_uc011bzf.1_Missense_Mutation_p.S353C|CORIN_uc011bzg.1_Missense_Mutation_p.S425C|CORIN_uc011bzh.1_Missense_Mutation_p.S455C|CORIN_uc011bzi.1_Missense_Mutation_p.S455C	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	492	Extracellular (Potential).|FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						AGGGAAAAGAGAAGACTCCCA	0.403													3	83	---	---	---	---	PASS
HOPX	84525	broad.mit.edu	37	4	57522135	57522135	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:57522135T>A	uc011cad.1	-	2	267	c.32A>T	c.(31-33)GAG>GTG	p.E11V	HOPX_uc003hcc.2_Missense_Mutation_p.E29V|HOPX_uc003hca.2_Missense_Mutation_p.E29V|HOPX_uc003hcb.2_Missense_Mutation_p.E11V|HOPX_uc003hcd.2_RNA|HOPX_uc003hce.2_RNA|HOPX_uc003hbz.2_Missense_Mutation_p.E11V	NM_001145459	NP_001138931	Q9BPY8	HOP_HUMAN	HOP homeobox isoform b	11	Homeobox; atypical.				negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Glioma(25;0.08)|all_neural(26;0.101)					CACCTGGTCCTCTGTGGGGCC	0.687													15	11	---	---	---	---	PASS
STATH	6779	broad.mit.edu	37	4	70866662	70866662	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:70866662T>A	uc003heu.1	+	5	295	c.185T>A	c.(184-186)TTT>TAT	p.F62Y	STATH_uc003hev.1_Missense_Mutation_p.F52Y	NM_003154	NP_003145	P02808	STAT_HUMAN	statherin isoform a	62	Hydrophobic; inhibits precipitation of calcium phosphate salts.		Missing (in statherin variants SV1 and SV3).		biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			skin(1)	1						CAATATACCTTTTAATATCAT	0.378													14	28	---	---	---	---	PASS
ADAMTS3	9508	broad.mit.edu	37	4	73164143	73164143	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:73164143T>A	uc003hgk.1	-	18	2478	c.2441A>T	c.(2440-2442)AAT>ATT	p.N814I	ADAMTS3_uc003hgl.2_Missense_Mutation_p.N155I	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	814	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCGGGTATCATTTTCTTGAGG	0.323													18	4	---	---	---	---	PASS
EGF	1950	broad.mit.edu	37	4	110864592	110864592	+	Splice_Site	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:110864592G>A	uc003hzy.3	+	3	961	c.509_splice	c.e3+1	p.R170_splice	EGF_uc011cfu.1_Splice_Site_p.R170_splice|EGF_uc011cfv.1_Splice_Site_p.R170_splice	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor						angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CAGTAGAAAGGTAAATTCTGC	0.308													11	3	---	---	---	---	PASS
NDST4	64579	broad.mit.edu	37	4	115767116	115767116	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:115767116T>C	uc003ibu.2	-	10	2657	c.1978A>G	c.(1978-1980)AGT>GGT	p.S660G	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	660	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGAAAGTCACTTGTAGTATTG	0.388													24	5	---	---	---	---	PASS
ADAD1	132612	broad.mit.edu	37	4	123350799	123350799	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:123350799C>A	uc003ieo.2	+	13	1868	c.1636C>A	c.(1636-1638)CAA>AAA	p.Q546K	ADAD1_uc003iep.2_Missense_Mutation_p.Q535K|ADAD1_uc003ieq.2_Missense_Mutation_p.Q528K	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	546	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0						TGCCTCCTATCAAGAAGCTAA	0.358													27	1	---	---	---	---	PASS
NUDT6	11162	broad.mit.edu	37	4	123814314	123814314	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:123814314C>A	uc003iew.2	-	5	652	c.620G>T	c.(619-621)AGT>ATT	p.S207I	FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Missense_Mutation_p.S38I	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	207	Nudix hydrolase.					mitochondrion|nucleus	growth factor activity|hydrolase activity				0						TTGCCGAATACTCAGGACGGA	0.393													50	15	---	---	---	---	PASS
IRX1	79192	broad.mit.edu	37	5	3599381	3599381	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:3599381G>A	uc003jde.2	+	2	371	c.319G>A	c.(319-321)GCC>ACC	p.A107T		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GGTGCACCCCGCCACCTTCGC	0.557													44	7	---	---	---	---	PASS
DNAH5	1767	broad.mit.edu	37	5	13700970	13700970	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:13700970C>A	uc003jfd.2	-	78	13544	c.13502G>T	c.(13501-13503)CGG>CTG	p.R4501L	DNAH5_uc003jfc.2_Missense_Mutation_p.R669L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4501					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTTGTTGGCCCGAGTTATTTC	0.453									Kartagener_syndrome				41	7	---	---	---	---	PASS
MTMR12	54545	broad.mit.edu	37	5	32312944	32312944	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:32312944T>A	uc003jhq.2	-	1	171	c.1A>T	c.(1-3)ATG>TTG	p.M1L	MTMR12_uc010iuk.2_Missense_Mutation_p.M1L|MTMR12_uc010iul.2_Missense_Mutation_p.M1L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	1						cytoplasm	phosphatase activity			ovary(1)	1						TTCCCCAGCATACCGCCGCCC	0.667													23	9	---	---	---	---	PASS
RAD17	5884	broad.mit.edu	37	5	68669760	68669760	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:68669760G>A	uc003jwo.2	+	2	208	c.146G>A	c.(145-147)AGA>AAA	p.R49K	RAD17_uc003jwg.2_Missense_Mutation_p.R38K|RAD17_uc003jwh.2_Missense_Mutation_p.R38K|RAD17_uc003jwi.2_Missense_Mutation_p.R38K|RAD17_uc003jwj.2_Missense_Mutation_p.R38K|RAD17_uc003jwk.2_Missense_Mutation_p.R38K|RAD17_uc003jwl.2_Missense_Mutation_p.R38K|RAD17_uc003jwm.2_5'UTR|RAD17_uc003jwn.2_Intron	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	49					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGTCATAGAAGAAAAAATGGG	0.368								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					19	5	---	---	---	---	PASS
TMEM171	134285	broad.mit.edu	37	5	72419209	72419209	+	Silent	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:72419209T>G	uc003kcm.2	+	2	213	c.9T>G	c.(7-9)CCT>CCG	p.P3P	TMEM171_uc003kcn.3_Silent_p.P3P	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	3						integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		ACATGTCTCCTGCAGCTGCTG	0.552													64	22	---	---	---	---	PASS
TMEM171	134285	broad.mit.edu	37	5	72419210	72419210	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:72419210G>C	uc003kcm.2	+	2	214	c.10G>C	c.(10-12)GCA>CCA	p.A4P	TMEM171_uc003kcn.3_Missense_Mutation_p.A4P	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	4						integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		CATGTCTCCTGCAGCTGCTGC	0.552													67	22	---	---	---	---	PASS
CMYA5	202333	broad.mit.edu	37	5	79033024	79033024	+	Silent	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:79033024G>C	uc003kgc.2	+	2	8508	c.8436G>C	c.(8434-8436)CTG>CTC	p.L2812L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2812						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATATTTGCTGTCACCTGTAA	0.403													7	3	---	---	---	---	PASS
ANKRD34B	340120	broad.mit.edu	37	5	79854635	79854635	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:79854635A>G	uc010jam.2	-	4	1554	c.1204T>C	c.(1204-1206)TCC>CCC	p.S402P	ANKRD34B_uc003kgw.2_Missense_Mutation_p.S402P|ANKRD34B_uc010jan.2_Missense_Mutation_p.S402P	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	402						cytoplasm|nucleus				pancreas(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GACAATTGGGAAGGAGATGGT	0.483													17	23	---	---	---	---	PASS
MEF2C	4208	broad.mit.edu	37	5	88100564	88100564	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:88100564C>A	uc003kjj.2	-	3	782	c.109G>T	c.(109-111)GTG>TTG	p.V37L	MEF2C_uc003kji.2_Missense_Mutation_p.V37L|MEF2C_uc003kjk.2_Missense_Mutation_p.V37L|MEF2C_uc003kjm.2_Missense_Mutation_p.V37L|MEF2C_uc003kjl.2_Missense_Mutation_p.V37L	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	37	MADS-box.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCACACAGCACGCTCAGCTCA	0.418										HNSCC(66;0.2)			25	6	---	---	---	---	PASS
PCDHB2	56133	broad.mit.edu	37	5	140475550	140475550	+	Silent	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:140475550T>C	uc003lil.2	+	1	1314	c.1176T>C	c.(1174-1176)CCT>CCC	p.P392P	PCDHB2_uc003lim.1_Silent_p.P53P	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	392	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGATCTTCCTTTTTTCTTGA	0.483													18	31	---	---	---	---	PASS
RNF145	153830	broad.mit.edu	37	5	158585996	158585996	+	Silent	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:158585996T>G	uc003lxp.2	-	11	1987	c.1674A>C	c.(1672-1674)GCA>GCC	p.A558A	RNF145_uc011ddy.1_Silent_p.A572A|RNF145_uc003lxo.1_Silent_p.A586A|RNF145_uc011ddz.1_Silent_p.A575A|RNF145_uc010jiq.1_Silent_p.A588A	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	558	RING-type; atypical.					integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAGACAGCCTGCATGGAAAA	0.448													40	4	---	---	---	---	PASS
UNC5A	90249	broad.mit.edu	37	5	176306396	176306396	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr5:176306396T>C	uc003mey.2	+	14	2462	c.2270T>C	c.(2269-2271)TTC>TCC	p.F757S		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	757	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGATCCCCTTCCTCATTCGG	0.637													138	27	---	---	---	---	PASS
LRRC16A	55604	broad.mit.edu	37	6	25619690	25619690	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:25619690G>T	uc011djw.1	+	37	4371	c.3995G>T	c.(3994-3996)TGG>TTG	p.W1332L	LRRC16A_uc010jpx.2_Missense_Mutation_p.W1287L|LRRC16A_uc010jpy.2_Missense_Mutation_p.W1326L	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1332					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						AGGAGAAGCTGGGGCCAGCAG	0.478													38	4	---	---	---	---	PASS
LRRC16A	55604	broad.mit.edu	37	6	25619691	25619691	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:25619691G>T	uc011djw.1	+	37	4372	c.3996G>T	c.(3994-3996)TGG>TGT	p.W1332C	LRRC16A_uc010jpx.2_Missense_Mutation_p.W1287C|LRRC16A_uc010jpy.2_Missense_Mutation_p.W1326C	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1332					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						GGAGAAGCTGGGGCCAGCAGG	0.478													38	5	---	---	---	---	PASS
C6orf47	57827	broad.mit.edu	37	6	31627280	31627280	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:31627280C>T	uc003nvm.1	-	1	1270	c.445G>A	c.(445-447)GGT>AGT	p.G149S		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	149										ovary(1)	1						TCACGCCTACCAGGTTTCTCC	0.632													70	137	---	---	---	---	PASS
ANKS1A	23294	broad.mit.edu	37	6	34985263	34985263	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:34985263C>A	uc003ojx.3	+	11	1579	c.1437C>A	c.(1435-1437)AGC>AGA	p.S479R	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.S19R|ANKS1A_uc010jvp.1_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	479						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						ACAGGCGGAGCAGCAGCAGCC	0.577													112	68	---	---	---	---	PASS
SRPK1	6732	broad.mit.edu	37	6	35837488	35837488	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:35837488T>A	uc003olj.2	-	11	1305	c.1182A>T	c.(1180-1182)GAA>GAT	p.E394D	SRPK1_uc011dtg.1_Missense_Mutation_p.E378D|SRPK1_uc003olh.2_Missense_Mutation_p.E287D|SRPK1_uc003oli.2_Missense_Mutation_p.E287D	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	SFRS protein kinase 1	394	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						GGAAACTAGATTCCTGATTCA	0.378													25	20	---	---	---	---	PASS
TDRD6	221400	broad.mit.edu	37	6	46656442	46656442	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:46656442G>T	uc003oyj.2	+	1	577	c.577G>T	c.(577-579)GAG>TAG	p.E193*	TDRD6_uc010jze.2_Nonsense_Mutation_p.E187*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	193					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ACAGATGCGGGAGCTGGGCCT	0.672													6	268	---	---	---	---	PASS
C6orf138	442213	broad.mit.edu	37	6	47976433	47976433	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:47976433T>C	uc011dwm.1	-	2	878	c.793A>G	c.(793-795)ATC>GTC	p.I265V	C6orf138_uc011dwn.1_Missense_Mutation_p.I29V|C6orf138_uc003ozf.2_Missense_Mutation_p.I282V	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	282	Helical; (Potential).|SSD.					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						ATGAAGAAGATCCCTGCTGCT	0.542													10	26	---	---	---	---	PASS
TFAP2B	7021	broad.mit.edu	37	6	50803938	50803938	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:50803938C>G	uc003pag.2	+	4	932	c.766C>G	c.(766-768)CGG>GGG	p.R256G		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	256					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					AGTTCAGAGACGGCTGTCGCC	0.473													8	56	---	---	---	---	PASS
BACH2	60468	broad.mit.edu	37	6	90660874	90660874	+	Silent	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:90660874G>A	uc011eab.1	-	7	1760	c.951C>T	c.(949-951)GCC>GCT	p.A317A	BACH2_uc003pnw.2_Silent_p.A317A|BACH2_uc010kch.2_Silent_p.A317A	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	317						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGGGGTAGGGGCAGGGCTGG	0.627													38	60	---	---	---	---	PASS
BEND3	57673	broad.mit.edu	37	6	107390285	107390285	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:107390285C>A	uc003prs.2	-	5	2760	c.2110G>T	c.(2110-2112)GAC>TAC	p.D704Y		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	704										ovary(3)	3						ACCAGCTCGTCCAAGGGGATC	0.627													127	108	---	---	---	---	PASS
NR2E1	7101	broad.mit.edu	37	6	108497813	108497813	+	Silent	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:108497813G>A	uc003psg.2	+	4	1121	c.366G>A	c.(364-366)TCG>TCA	p.S122S		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	122					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		ACTTTCCCTCGGCGGCGCTCC	0.711													32	52	---	---	---	---	PASS
PTPRK	5796	broad.mit.edu	37	6	128388874	128388874	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:128388874C>T	uc003qbk.2	-	12	2314	c.1947G>A	c.(1945-1947)ATG>ATA	p.M649I	PTPRK_uc003qbj.2_Missense_Mutation_p.M649I|PTPRK_uc010kfc.2_Missense_Mutation_p.M649I|PTPRK_uc011ebu.1_Missense_Mutation_p.M649I|PTPRK_uc003qbl.1_Missense_Mutation_p.M519I|PTPRK_uc011ebv.1_Missense_Mutation_p.M649I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	649	Extracellular (Potential).|Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGTAGCATTCCATGGCTCCGG	0.483													7	152	---	---	---	---	PASS
TAAR2	9287	broad.mit.edu	37	6	132938669	132938669	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:132938669C>A	uc003qdl.1	-	2	676	c.676G>T	c.(676-678)GTG>TTG	p.V226L	TAAR2_uc010kfr.1_Missense_Mutation_p.V181L	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	226	Helical; Name=5; (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TAAATCCCCACCATCATAGAC	0.413													26	25	---	---	---	---	PASS
MAP7	9053	broad.mit.edu	37	6	136683634	136683634	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:136683634T>C	uc003qgz.2	-	11	1726	c.1480A>G	c.(1480-1482)AGA>GGA	p.R494G	MAP7_uc011edf.1_Missense_Mutation_p.R479G|MAP7_uc011edg.1_Missense_Mutation_p.R524G|MAP7_uc010kgu.2_Missense_Mutation_p.R516G|MAP7_uc011edh.1_Missense_Mutation_p.R479G|MAP7_uc010kgv.2_Missense_Mutation_p.R516G|MAP7_uc010kgs.2_Missense_Mutation_p.R348G|MAP7_uc011edi.1_Missense_Mutation_p.R348G|MAP7_uc010kgq.1_Missense_Mutation_p.R400G|MAP7_uc003qha.1_Missense_Mutation_p.R457G	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	494	Potential.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCCTTTTCTCTCTGCTCTCGG	0.522													6	240	---	---	---	---	PASS
SYNE1	23345	broad.mit.edu	37	6	152557956	152557956	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:152557956T>C	uc010kiw.2	-	109	20797	c.20195A>G	c.(20194-20196)TAC>TGC	p.Y6732C	SYNE1_uc010kiv.2_Missense_Mutation_p.Y1256C|SYNE1_uc003qos.3_Missense_Mutation_p.Y1256C|SYNE1_uc003qot.3_Missense_Mutation_p.Y6661C|SYNE1_uc003qou.3_Missense_Mutation_p.Y6732C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6732	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCAACCTGGTAGAGTGTTAT	0.448										HNSCC(10;0.0054)			35	23	---	---	---	---	PASS
TARP	445347	broad.mit.edu	37	7	38304988	38304988	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:38304988C>A	uc003tge.1	-	5	1096	c.719G>T	c.(718-720)GGA>GTA	p.G240V	uc003tfz.1_Intron|TARP_uc003tgb.2_Missense_Mutation_p.G36V|TARP_uc003tgc.1_Missense_Mutation_p.G36V|TARP_uc003tgd.1_Missense_Mutation_p.G36V|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA			A2JGV3	A2JGV3_HUMAN	Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.	Error:Variant_position_missing_in_A2JGV3_after_alignment											0						TTGATCAACTCCGTTTTTATT	0.363													4	28	---	---	---	---	PASS
NPC1L1	29881	broad.mit.edu	37	7	44556465	44556465	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:44556465C>T	uc003tlb.2	-	17	3493	c.3437G>A	c.(3436-3438)TGC>TAC	p.C1146Y	NPC1L1_uc003tlc.2_Missense_Mutation_p.C1119Y|NPC1L1_uc011kbw.1_Missense_Mutation_p.C1073Y|NPC1L1_uc003tla.2_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1146	Helical; Name=10; (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	GGGCACAAGGCAGAGGCTGAG	0.587													25	28	---	---	---	---	PASS
ABCA13	154664	broad.mit.edu	37	7	48284217	48284217	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:48284217C>A	uc003toq.2	+	11	1332	c.1307C>A	c.(1306-1308)CCC>CAC	p.P436H	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	436					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CAAAACCTGCCCCAGTGGCCG	0.408													22	12	---	---	---	---	PASS
POM121L12	285877	broad.mit.edu	37	7	53103566	53103566	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:53103566T>A	uc003tpz.2	+	1	218	c.202T>A	c.(202-204)TGG>AGG	p.W68R		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	68											0						GTACTTCCAGTGGGGGCGCCC	0.706													14	29	---	---	---	---	PASS
LANCL2	55915	broad.mit.edu	37	7	55468869	55468869	+	Silent	SNP	A	G	G	rs148596591		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:55468869A>G	uc003tqp.2	+	5	1259	c.681A>G	c.(679-681)GTA>GTG	p.V227V		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	227					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CTCTGTAGGTAGTCAATGCTA	0.393													37	40	---	---	---	---	PASS
PHKG1	5260	broad.mit.edu	37	7	56151350	56151350	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:56151350C>G	uc003trz.1	-	5	571	c.376G>C	c.(376-378)GAA>CAA	p.E126Q	PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Missense_Mutation_p.E20Q|PHKG1_uc011kdb.1_Missense_Mutation_p.E158Q|PHKG1_uc011kdc.1_Missense_Mutation_p.E117Q|PHKG1_uc011kdd.1_Missense_Mutation_p.E72Q	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	phosphorylase kinase gamma subunit 1	126	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			large_intestine(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACCTGGTTTCCTTCTCACTC	0.587													3	9	---	---	---	---	PASS
WBSCR17	64409	broad.mit.edu	37	7	71036319	71036319	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:71036319G>T	uc003tvy.2	+	6	1012	c.1012G>T	c.(1012-1014)GGT>TGT	p.G338C	WBSCR17_uc003tvz.2_Missense_Mutation_p.G37C	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	338	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAAGTTCTTCGGTGAAATTGG	0.502													78	110	---	---	---	---	PASS
WBSCR17	64409	broad.mit.edu	37	7	71036320	71036320	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:71036320G>C	uc003tvy.2	+	6	1013	c.1013G>C	c.(1012-1014)GGT>GCT	p.G338A	WBSCR17_uc003tvz.2_Missense_Mutation_p.G37A	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	338	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGTTCTTCGGTGAAATTGGT	0.502													80	110	---	---	---	---	PASS
HIP1	3092	broad.mit.edu	37	7	75168751	75168751	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:75168751C>G	uc003uds.1	-	30	2994	c.2953G>C	c.(2953-2955)GTT>CTT	p.V985L	HIP1_uc011kfz.1_Missense_Mutation_p.V811L	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	985	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						AGCACCCTAACCTGTAAGGGA	0.343			T	PDGFRB	CMML								182	205	---	---	---	---	PASS
TMEM130	222865	broad.mit.edu	37	7	98449145	98449145	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:98449145G>A	uc003upo.2	-	6	1094	c.905C>T	c.(904-906)ACC>ATC	p.T302I	TMEM130_uc011kiq.1_Missense_Mutation_p.T283I|TMEM130_uc011kir.1_Missense_Mutation_p.T302I|TMEM130_uc003upn.2_Missense_Mutation_p.T200I	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	302	Extracellular (Potential).					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAAGGTGTGGGTCAGGTTGTA	0.607													42	59	---	---	---	---	PASS
PUS7	54517	broad.mit.edu	37	7	105148856	105148856	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:105148856A>G	uc003vcx.2	-	2	323	c.104T>C	c.(103-105)CTG>CCG	p.L35P	PUS7_uc010lji.2_Missense_Mutation_p.L35P|PUS7_uc003vcy.2_Missense_Mutation_p.L35P|PUS7_uc003vcz.1_Missense_Mutation_p.L35P	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	35					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						GCATTCCGACAGCTTCTGTTT	0.493													50	133	---	---	---	---	PASS
PIK3CG	5294	broad.mit.edu	37	7	106515250	106515250	+	Splice_Site	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:106515250T>G	uc003vdv.3	+	5	2476	c.2391_splice	c.e5+2	p.A797_splice	PIK3CG_uc003vdu.2_Splice_Site_p.A797_splice|PIK3CG_uc003vdw.2_Splice_Site_p.A797_splice	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma						G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GCGCTGGCAGTAGGTATCACT	0.438													15	26	---	---	---	---	PASS
CBLL1	79872	broad.mit.edu	37	7	107398922	107398922	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:107398922G>A	uc003veq.2	+	6	1105	c.775G>A	c.(775-777)GAT>AAT	p.D259N	CBLL1_uc011kme.1_Missense_Mutation_p.D138N|CBLL1_uc011kmf.1_Missense_Mutation_p.D258N	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	259	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5						GCCACATGAGGATATTCGTGC	0.478													34	64	---	---	---	---	PASS
FOXP2	93986	broad.mit.edu	37	7	114299712	114299712	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:114299712A>T	uc003vhb.2	+	13	2005	c.1631A>T	c.(1630-1632)AAT>ATT	p.N544I	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.N569I|FOXP2_uc003vha.2_Missense_Mutation_p.N452I|FOXP2_uc011kmu.1_Missense_Mutation_p.N561I|FOXP2_uc011kmv.1_Missense_Mutation_p.N543I|FOXP2_uc010ljz.1_Missense_Mutation_p.N359I|FOXP2_uc003vhe.1_Missense_Mutation_p.N114I	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	544	Fork-head.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						TTCAGGCGTAATGCAGCAACT	0.313													50	65	---	---	---	---	PASS
WNT2	7472	broad.mit.edu	37	7	116937856	116937856	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:116937856C>G	uc003viz.2	-	4	963	c.663G>C	c.(661-663)TGG>TGC	p.W221C	WNT2_uc003vja.2_Missense_Mutation_p.W125C	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	221					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCATGGCCAGCCAGCATGTCC	0.547													93	159	---	---	---	---	PASS
C7orf58	79974	broad.mit.edu	37	7	120884320	120884320	+	Silent	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:120884320C>A	uc003vjq.3	+	18	2685	c.2238C>A	c.(2236-2238)ACC>ACA	p.T746T	C7orf58_uc003vjs.3_Silent_p.T746T|C7orf58_uc003vjt.3_Silent_p.T526T	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	746						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					GAGAAATAACCTGGCAGCCCC	0.507													25	40	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	7	124116784	124116784	+	Silent	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:124116784G>T	uc011kod.1	+	1	360	c.360G>T	c.(358-360)GTG>GTT	p.V120V		NM_001085395	NP_001078864			RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2;          Short=CTD phosphatase SSU72-like protein 2;          EC=3.1.3.16;																		ACACAGTGGTGGAAGATCTGT	0.478													15	30	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	7	124116785	124116785	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:124116785G>T	uc011kod.1	+	1	361	c.361G>T	c.(361-363)GAA>TAA	p.E121*		NM_001085395	NP_001078864			RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2;          Short=CTD phosphatase SSU72-like protein 2;          EC=3.1.3.16;																		CACAGTGGTGGAAGATCTGTG	0.473													17	29	---	---	---	---	PASS
CALD1	800	broad.mit.edu	37	7	134617933	134617933	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:134617933A>G	uc003vrz.2	+	5	872	c.413A>G	c.(412-414)CAA>CGA	p.Q138R	CALD1_uc003vry.2_Missense_Mutation_p.Q138R|CALD1_uc003vsa.2_Missense_Mutation_p.Q138R|CALD1_uc003vsb.2_Missense_Mutation_p.Q138R|CALD1_uc010lmm.2_Missense_Mutation_p.Q138R|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Missense_Mutation_p.Q132R|CALD1_uc003vsd.2_Missense_Mutation_p.Q132R|CALD1_uc011kpu.1_Missense_Mutation_p.Q143R|CALD1_uc011kpv.1_Missense_Mutation_p.Q2R|CALD1_uc003vse.2_Missense_Mutation_p.Q2R	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	138	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						AGAAGAATGCAAAATGACACA	0.463													17	19	---	---	---	---	PASS
TRPV5	56302	broad.mit.edu	37	7	142612555	142612555	+	Splice_Site	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:142612555T>A	uc003wby.1	-	10	1474	c.1210_splice	c.e10-1	p.I404_splice		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,						protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					GTCTGGAATCTGGGGAGAGGA	0.537													72	110	---	---	---	---	PASS
OR6B1	135946	broad.mit.edu	37	7	143701233	143701233	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:143701233G>C	uc003wdt.1	+	1	144	c.144G>C	c.(142-144)TTG>TTC	p.L48F		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	48	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					TCATCCTATTGGTGCTGCAAA	0.498													13	43	---	---	---	---	PASS
SHH	6469	broad.mit.edu	37	7	155599110	155599110	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr7:155599110T>G	uc003wmk.1	-	2	593	c.442A>C	c.(442-444)ATC>CTC	p.I148L	SHH_uc003wmh.1_RNA|SHH_uc003wmi.1_Missense_Mutation_p.I61L|SHH_uc003wmj.1_Missense_Mutation_p.I61L	NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	148					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|lung(1)	4	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACGTGGTGATGTCCACTGCG	0.637													42	48	---	---	---	---	PASS
MYOM2	9172	broad.mit.edu	37	8	2092844	2092844	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:2092844C>T	uc003wpx.3	+	37	4475	c.4337C>T	c.(4336-4338)GCC>GTC	p.A1446V	MYOM2_uc011kwi.1_Missense_Mutation_p.A871V	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	1446					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCGGACATGGCCCCGCCCCAG	0.572													53	7	---	---	---	---	PASS
STMN4	81551	broad.mit.edu	37	8	27098712	27098712	+	Silent	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:27098712G>C	uc003xfk.2	-	4	291	c.177C>G	c.(175-177)ACC>ACG	p.T59T	STMN4_uc003xfj.2_Silent_p.T86T|STMN4_uc011lai.1_Silent_p.T86T|STMN4_uc011laj.1_Silent_p.T50T|STMN4_uc011lak.1_Silent_p.T86T|STMN4_uc010luo.2_Silent_p.T59T			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	59					intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		ATTGGCCCGAGGTGCATTTGT	0.577													43	151	---	---	---	---	PASS
GTF2E2	2961	broad.mit.edu	37	8	30469975	30469975	+	Silent	SNP	A	G	G	rs139448873		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:30469975A>G	uc003xig.2	-	5	643	c.390T>C	c.(388-390)ATT>ATC	p.I130I		NM_002095	NP_002086	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2,	130	TFIIE beta.				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTATTACTTCAATTTTGGGAT	0.323													18	18	---	---	---	---	PASS
KCNU1	157855	broad.mit.edu	37	8	36663865	36663865	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:36663865T>C	uc010lvw.2	+	5	634	c.547T>C	c.(547-549)TTT>CTT	p.F183L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	183	Helical; Name=Segment S3; (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCACCAACCTTTATTTCTTA	0.348													4	10	---	---	---	---	PASS
NCOA2	10499	broad.mit.edu	37	8	71069263	71069263	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:71069263C>T	uc003xyn.1	-	11	1499	c.1337G>A	c.(1336-1338)GGA>GAA	p.G446E		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	446					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATGGTTCATTCCCCCAGAACC	0.498			T	RUNXBP2	AML								60	56	---	---	---	---	PASS
ZFHX4	79776	broad.mit.edu	37	8	77618098	77618098	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:77618098G>A	uc003yav.2	+	2	2162	c.1775G>A	c.(1774-1776)GGC>GAC	p.G592D	ZFHX4_uc003yat.1_Missense_Mutation_p.G592D|ZFHX4_uc003yau.1_Missense_Mutation_p.G592D|ZFHX4_uc003yaw.1_Missense_Mutation_p.G592D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	592						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCAGCATGGCTTTACCCCG	0.582										HNSCC(33;0.089)			58	53	---	---	---	---	PASS
ZFHX4	79776	broad.mit.edu	37	8	77766431	77766431	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:77766431C>A	uc003yav.2	+	10	7526	c.7139C>A	c.(7138-7140)ACC>AAC	p.T2380N	ZFHX4_uc003yau.1_Missense_Mutation_p.T2425N|ZFHX4_uc003yaw.1_Missense_Mutation_p.T2380N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2380	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTCAAGGCACCAAACCAGCC	0.433										HNSCC(33;0.089)			4	4	---	---	---	---	PASS
CNGB3	54714	broad.mit.edu	37	8	87683244	87683244	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:87683244G>T	uc003ydx.2	-	4	467	c.421C>A	c.(421-423)CAA>AAA	p.Q141K	CNGB3_uc010maj.2_Missense_Mutation_p.Q3K	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	141	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GCTGTTCTTTGACGCATTCTT	0.473													182	254	---	---	---	---	PASS
VPS13B	157680	broad.mit.edu	37	8	100146904	100146904	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:100146904A>T	uc003yiv.2	+	9	1362	c.1251A>T	c.(1249-1251)AAA>AAT	p.K417N	VPS13B_uc003yiw.2_Missense_Mutation_p.K417N|VPS13B_uc003yit.2_Missense_Mutation_p.K417N|VPS13B_uc003yiu.1_Missense_Mutation_p.K417N|VPS13B_uc003yix.1_5'Flank	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	417					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTCCACAGAAAGTAAAATCTA	0.254													15	18	---	---	---	---	PASS
PABPC1	26986	broad.mit.edu	37	8	101717188	101717188	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:101717188T>G	uc003yjs.1	-	13	2288	c.1784A>C	c.(1783-1785)CAT>CCT	p.H595P	PABPC1_uc011lhc.1_Missense_Mutation_p.H563P|PABPC1_uc011lhd.1_Missense_Mutation_p.H550P|PABPC1_uc003yjt.1_Missense_Mutation_p.H592P|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	595	PABC.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CTCGAGCATATGAAGAAGTTC	0.408													4	102	---	---	---	---	PASS
ABRA	137735	broad.mit.edu	37	8	107773438	107773438	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:107773438G>C	uc003ymm.3	-	2	1027	c.973C>G	c.(973-975)CGA>GGA	p.R325G		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	325					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTGCCATCTCGTCTGTGGCGA	0.473													36	51	---	---	---	---	PASS
PKHD1L1	93035	broad.mit.edu	37	8	110530513	110530513	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:110530513C>T	uc003yne.2	+	73	11911	c.11807C>T	c.(11806-11808)ACA>ATA	p.T3936I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3936	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACACTGCCACAGTGATATTT	0.368										HNSCC(38;0.096)			26	32	---	---	---	---	PASS
ATAD2	29028	broad.mit.edu	37	8	124384043	124384043	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:124384043C>T	uc003yqh.3	-	4	511	c.403G>A	c.(403-405)GCT>ACT	p.A135T	ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.A135T	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGTTTCTAGCCCTCAATGAC	0.318													11	15	---	---	---	---	PASS
KCNK9	51305	broad.mit.edu	37	8	140630833	140630833	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:140630833C>T	uc003yvf.1	-	2	857	c.793G>A	c.(793-795)GCC>ACC	p.A265T	KCNK9_uc003yvg.1_Missense_Mutation_p.A265T|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	265	Cytoplasmic (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGGTTTCCGGCGAGGGATGCC	0.632													31	86	---	---	---	---	PASS
CYP11B2	1585	broad.mit.edu	37	8	143996633	143996633	+	Silent	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:143996633A>G	uc003yxk.1	-	3	427	c.424T>C	c.(424-426)TTG>CTG	p.L142L		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	142					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TTCAGCCGCAATCGGTTGAAG	0.622									Familial_Hyperaldosteronism_type_I				14	23	---	---	---	---	PASS
GLI4	2738	broad.mit.edu	37	8	144358475	144358475	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:144358475A>G	uc003yxx.2	+	4	717	c.632A>G	c.(631-633)TAC>TGC	p.Y211C	ZFP41_uc003yxv.2_RNA	NM_138465	NP_612474	P10075	GLI4_HUMAN	GLI-Kruppel family member GLI4	211	C2H2-type 2.					nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GAGAAGCCCTACGCCTGCCAC	0.667													18	22	---	---	---	---	PASS
PLEC	5339	broad.mit.edu	37	8	144993528	144993528	+	Silent	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:144993528C>A	uc003zaf.1	-	32	11042	c.10872G>T	c.(10870-10872)GTG>GTT	p.V3624V	PLEC_uc003zab.1_Silent_p.V3487V|PLEC_uc003zac.1_Silent_p.V3491V|PLEC_uc003zad.2_Silent_p.V3487V|PLEC_uc003zae.1_Silent_p.V3455V|PLEC_uc003zag.1_Silent_p.V3465V|PLEC_uc003zah.2_Silent_p.V3473V|PLEC_uc003zaj.2_Silent_p.V3514V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3624	Globular 2.|Plectin 15.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCTGGTAGGCCACGTCCACAG	0.667													85	191	---	---	---	---	PASS
OPLAH	26873	broad.mit.edu	37	8	145109557	145109557	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:145109557C>A	uc003zar.3	-	19	2675	c.2593G>T	c.(2593-2595)GGC>TGC	p.G865C	OPLAH_uc003zas.1_Missense_Mutation_p.R139M	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	865							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GGCATGGAGCCTGGTGTGATG	0.637													40	67	---	---	---	---	PASS
INSL4	3641	broad.mit.edu	37	9	5231522	5231522	+	Translation_Start_Site	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:5231522G>T	uc003ziy.2	+	1	104	c.-1G>T	c.(-3-1)CAGGA>CATGA			NM_002195	NP_002186	Q14641	INSL4_HUMAN	insulin-like 4 precursor						cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		TTCAGGTCCAGGATGGCCAGC	0.567													15	4	---	---	---	---	PASS
TOPORS	10210	broad.mit.edu	37	9	32543732	32543732	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:32543732C>A	uc003zrb.2	-	3	958	c.791G>T	c.(790-792)CGT>CTT	p.R264L	TOPORS_uc003zrc.2_Missense_Mutation_p.R197L	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	264	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGCACCAGCACGATAAAGAGT	0.403													40	15	---	---	---	---	PASS
ZCCHC6	79670	broad.mit.edu	37	9	88924922	88924922	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:88924922T>C	uc004aoq.2	-	19	3604	c.3389A>G	c.(3388-3390)AAC>AGC	p.N1130S	ZCCHC6_uc010mqe.2_Missense_Mutation_p.N68S|ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.N894S|ZCCHC6_uc004aou.2_Missense_Mutation_p.N1130S	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1130					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						AAGCCTTGTGTTATGAAGGGC	0.303													13	0	---	---	---	---	PASS
ZCCHC6	79670	broad.mit.edu	37	9	88961294	88961294	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:88961294C>G	uc004aoq.2	-	3	837	c.622G>C	c.(622-624)GTA>CTA	p.V208L	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.V208L|ZCCHC6_uc004aou.2_Missense_Mutation_p.V208L|ZCCHC6_uc004aov.2_Missense_Mutation_p.V208L|ZCCHC6_uc004aow.2_Missense_Mutation_p.V208L	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	208					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						GTTGAAAGTACAGACTCATCG	0.463													3	81	---	---	---	---	PASS
NFIL3	4783	broad.mit.edu	37	9	94172709	94172709	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:94172709T>C	uc004arh.2	-	2	703	c.308A>G	c.(307-309)AAC>AGC	p.N103S		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	103	Leucine-zipper.				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						AATTAGTTTGTTCTCTAAAAC	0.383													14	174	---	---	---	---	PASS
FAM22F	54754	broad.mit.edu	37	9	97088171	97088171	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:97088171G>T	uc004aup.1	-	2	83	c.62C>A	c.(61-63)TCC>TAC	p.S21Y		NM_017561	NP_060031	A1L443	FA22F_HUMAN	hypothetical protein LOC54754	21											0		Acute lymphoblastic leukemia(62;0.136)				CACAGACAGGGAGGTGCCAGG	0.642													23	2	---	---	---	---	PASS
INVS	27130	broad.mit.edu	37	9	103035213	103035213	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:103035213G>T	uc004bap.1	+	12	1851	c.1639G>T	c.(1639-1641)GGT>TGT	p.G547C	INVS_uc010mta.1_Missense_Mutation_p.G451C|INVS_uc011lve.1_Missense_Mutation_p.G451C|INVS_uc004bao.1_Missense_Mutation_p.G547C|INVS_uc004baq.1_Missense_Mutation_p.G451C|INVS_uc004bar.1_Missense_Mutation_p.G451C|INVS_uc010mtb.1_Missense_Mutation_p.G221C	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	547	ANK 16.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				GTTGGAGCACGGTGCCCTGTC	0.463													182	43	---	---	---	---	PASS
COL27A1	85301	broad.mit.edu	37	9	117027703	117027703	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:117027703G>A	uc011lxl.1	+	32	3341	c.3341G>A	c.(3340-3342)GGC>GAC	p.G1114D	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1114	Pro-rich.|Collagen-like 8.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						TCTCTGCAGGGCATCCCGGGT	0.592													3	50	---	---	---	---	PASS
DAB2IP	153090	broad.mit.edu	37	9	124535710	124535710	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:124535710G>C	uc004bln.2	+	12	2888	c.2819G>C	c.(2818-2820)AGG>ACG	p.R940T	DAB2IP_uc004blo.2_Missense_Mutation_p.R844T|DAB2IP_uc004blp.2_Missense_Mutation_p.R373T	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	968					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						ACCCGCCTGAGGCAGCAGTCC	0.652													9	1	---	---	---	---	PASS
GPR107	57720	broad.mit.edu	37	9	132887199	132887199	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:132887199A>G	uc004bze.2	+	17	1683	c.1456A>G	c.(1456-1458)ATT>GTT	p.I486V	GPR107_uc004bzb.2_Missense_Mutation_p.I249V|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.I457V|GPR107_uc004bzd.2_Missense_Mutation_p.I438V	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107 isoform 1	486						integral to membrane				upper_aerodigestive_tract(1)	1		Ovarian(14;0.000531)				TCTAGCTGCTATTAACTTAGC	0.328													6	0	---	---	---	---	PASS
GATA3	2625	broad.mit.edu	37	10	8100348	8100348	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:8100348A>T	uc001ika.2	+	3	879	c.322A>T	c.(322-324)ACC>TCC	p.T108S	GATA3_uc001ijz.2_Missense_Mutation_p.T108S	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	108					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						CAGCCACCACACCGCCTCCCC	0.692			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						41	22	---	---	---	---	PASS
CUBN	8029	broad.mit.edu	37	10	16981129	16981129	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:16981129T>C	uc001ioo.2	-	38	5618	c.5566A>G	c.(5566-5568)ATT>GTT	p.I1856V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1856	CUB 13.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTCCCACAATATTATCATTG	0.398													13	5	---	---	---	---	PASS
ARMC3	219681	broad.mit.edu	37	10	23244786	23244786	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:23244786A>T	uc001irm.3	+	4	300	c.217A>T	c.(217-219)ACT>TCT	p.T73S	ARMC3_uc010qcv.1_Missense_Mutation_p.T73S|ARMC3_uc010qcw.1_5'UTR|ARMC3_uc001irn.1_5'UTR	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	73	ARM 2.						binding				0						GGAACCTTTAACTAAGCTACT	0.348													5	2	---	---	---	---	PASS
GPR158	57512	broad.mit.edu	37	10	25887945	25887945	+	Silent	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:25887945G>A	uc001isj.2	+	11	3450	c.3390G>A	c.(3388-3390)GAG>GAA	p.E1130E	GPR158_uc001isk.2_Silent_p.E505E	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1130	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CAAAAACAGAGAATGAAAATC	0.473													42	9	---	---	---	---	PASS
ZEB1	6935	broad.mit.edu	37	10	31749974	31749974	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:31749974T>A	uc001ivs.3	+	2	130	c.67T>A	c.(67-69)TAT>AAT	p.Y23N	ZEB1_uc001ivr.3_5'UTR|ZEB1_uc010qee.1_5'UTR|ZEB1_uc010qef.1_5'UTR|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Missense_Mutation_p.Y23N|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivt.3_5'UTR|ZEB1_uc001ivu.3_Missense_Mutation_p.Y23N|ZEB1_uc001ivv.3_Missense_Mutation_p.Y23N|ZEB1_uc010qeh.1_Intron|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Missense_Mutation_p.Y6N|ZEB1_uc009xlp.2_Missense_Mutation_p.Y6N	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	23					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				AGTTACAAATTATAATACTGT	0.303													8	2	---	---	---	---	PASS
ZNF22	7570	broad.mit.edu	37	10	45499441	45499441	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:45499441C>G	uc001jbw.2	+	2	868	c.625C>G	c.(625-627)CCC>GCC	p.P209A	uc001jbx.1_RNA	NM_006963	NP_008894	P17026	ZNF22_HUMAN	zinc finger protein 22 (KOX 15)	209					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			breast(1)|kidney(1)	2		Prostate(175;0.0352)|all_neural(218;0.202)				GACTCACTTACCCTCTTGGAA	0.438													38	1	---	---	---	---	PASS
IPMK	253430	broad.mit.edu	37	10	59955890	59955890	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:59955890C>T	uc001jkb.2	-	6	1521	c.1198G>A	c.(1198-1200)GTT>ATT	p.V400I		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	400						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			ovary(1)	1						AGCCCATAAACATATCCCTCA	0.393													43	47	---	---	---	---	PASS
CCAR1	55749	broad.mit.edu	37	10	70513633	70513633	+	Silent	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:70513633A>G	uc001joo.2	+	11	1262	c.1143A>G	c.(1141-1143)CTA>CTG	p.L381L	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Silent_p.L186L|CCAR1_uc009xpx.1_Silent_p.L355L|CCAR1_uc001jon.1_Silent_p.L327L|CCAR1_uc010qiz.1_Silent_p.L366L|CCAR1_uc010qja.1_Silent_p.L366L|CCAR1_uc010qjb.1_RNA|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	381					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						TGATGGAACTAAGGCGCCGTT	0.353													75	94	---	---	---	---	PASS
BMPR1A	657	broad.mit.edu	37	10	88676951	88676951	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:88676951G>C	uc001kdy.2	+	9	1284	c.736G>C	c.(736-738)GGA>CGA	p.G246R		NM_004329	NP_004320	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	246	Cytoplasmic (Potential).|Protein kinase.|ATP (By similarity).				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						AGGCCGATATGGAGAAGTATG	0.428			Mis|N|F			gastrointestinal polyps			Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis				11	14	---	---	---	---	PASS
SLIT1	6585	broad.mit.edu	37	10	98808756	98808756	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:98808756T>A	uc001kmw.2	-	14	1673	c.1421A>T	c.(1420-1422)AAC>ATC	p.N474I	SLIT1_uc009xvh.1_Missense_Mutation_p.N484I	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	474	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GATGCGCTTGTTGGCGAGGCG	0.438													120	24	---	---	---	---	PASS
RRP12	23223	broad.mit.edu	37	10	99130284	99130284	+	Missense_Mutation	SNP	C	T	T	rs145302632		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:99130284C>T	uc001knf.2	-	23	2756	c.2617G>A	c.(2617-2619)GCA>ACA	p.A873T	RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Missense_Mutation_p.A591T|RRP12_uc010qou.1_Missense_Mutation_p.A812T|RRP12_uc009xvn.2_Missense_Mutation_p.A773T	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	873						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTCTTCCGTGCGCCCACCGAC	0.607													32	11	---	---	---	---	PASS
GBF1	8729	broad.mit.edu	37	10	104140082	104140082	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:104140082T>C	uc001kux.1	+	37	5192	c.4952T>C	c.(4951-4953)ATG>ACG	p.M1651T	GBF1_uc001kuy.1_Missense_Mutation_p.M1647T|GBF1_uc001kuz.1_Missense_Mutation_p.M1648T	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1651					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTGGACTTCATGGACAAGTAC	0.572													108	17	---	---	---	---	PASS
NEURL	9148	broad.mit.edu	37	10	105344807	105344807	+	Silent	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr10:105344807C>T	uc001kxh.2	+	4	1574	c.1164C>T	c.(1162-1164)CGC>CGT	p.R388R		NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	388	NHR 2.				nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCGTGTGCCGCGTGCCCGGGC	0.731													8	4	---	---	---	---	PASS
PHRF1	57661	broad.mit.edu	37	11	608235	608235	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:608235G>T	uc001lqe.2	+	14	2910	c.2779G>T	c.(2779-2781)GGC>TGC	p.G927C	PHRF1_uc010qwc.1_Missense_Mutation_p.G926C|PHRF1_uc010qwd.1_Missense_Mutation_p.G925C|PHRF1_uc010qwe.1_Missense_Mutation_p.G923C|PHRF1_uc009ybz.1_Missense_Mutation_p.G717C|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	927							RNA polymerase binding|zinc ion binding				0						AGAGAGCCAGGGCCTGGCTGC	0.697													19	20	---	---	---	---	PASS
MUC6	4588	broad.mit.edu	37	11	1016682	1016682	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:1016682G>A	uc001lsw.2	-	31	6170	c.6119C>T	c.(6118-6120)TCA>TTA	p.S2040L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2040	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTTGGCGTTGAGTGGATGGA	0.567													69	614	---	---	---	---	PASS
MUC2	4583	broad.mit.edu	37	11	1097313	1097313	+	Silent	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:1097313C>T	uc001lsx.1	+	38	13842	c.13815C>T	c.(13813-13815)TTC>TTT	p.F4605F		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4605	VWFD 4.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCTGTCCTTCTCCGTCAGGC	0.627													20	39	---	---	---	---	PASS
OR52W1	120787	broad.mit.edu	37	11	6220626	6220626	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:6220626C>A	uc010qzz.1	+	1	173	c.173C>A	c.(172-174)TCC>TAC	p.S58Y		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W,	58	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGATAGACTCCACACTGCAC	0.587													25	14	---	---	---	---	PASS
OR10A4	283297	broad.mit.edu	37	11	6898684	6898684	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:6898684C>A	uc010rat.1	+	1	806	c.806C>A	c.(805-807)TCT>TAT	p.S269Y		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGCCTCTTCTGAGAGCAAG	0.512													62	49	---	---	---	---	PASS
NLRP14	338323	broad.mit.edu	37	11	7083670	7083670	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:7083670G>A	uc001mfb.1	+	10	3234	c.2911G>A	c.(2911-2913)GAT>AAT	p.D971N		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	971	LRR 9.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CGATTTGCAGGATGATGGAGT	0.433													13	52	---	---	---	---	PASS
RAG1	5896	broad.mit.edu	37	11	36595199	36595199	+	Silent	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:36595199G>T	uc001mwu.3	+	2	469	c.345G>T	c.(343-345)GGG>GGT	p.G115G	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	115	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				GCATCTGTGGGAATTCTTTTA	0.458									Familial_Hemophagocytic_Lymphohistiocytosis				28	76	---	---	---	---	PASS
SLC35C1	55343	broad.mit.edu	37	11	45827872	45827872	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:45827872T>G	uc001nbp.2	+	1	1232	c.520T>G	c.(520-522)TGC>GGC	p.C174G	SLC35C1_uc001nbo.2_Missense_Mutation_p.C161G|SLC35C1_uc010rgm.1_Missense_Mutation_p.C161G	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN	GDP-fucose transporter 1 isoform a	174	Helical; (Potential).					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity				0				GBM - Glioblastoma multiforme(35;0.227)		CCTGCTCACCTGCGGTATCAT	0.532													14	37	---	---	---	---	PASS
SPI1	6688	broad.mit.edu	37	11	47380482	47380482	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:47380482C>T	uc001nfc.1	-	4	629	c.406G>A	c.(406-408)GGC>AGC	p.G136S	SPI1_uc001nfb.1_Missense_Mutation_p.G137S|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.G130S	NM_003120	NP_003111	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	136					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2				Lung(87;0.0967)		TGCCGCTCGCCCTCCTCCTCA	0.701													8	11	---	---	---	---	PASS
OR4A15	81328	broad.mit.edu	37	11	55136330	55136330	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:55136330G>T	uc010rif.1	+	1	971	c.971G>T	c.(970-972)AGT>ATT	p.S324I		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	324	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GAAATGAAAAGTGCCATGAGG	0.378													42	45	---	---	---	---	PASS
OR8H2	390151	broad.mit.edu	37	11	55872754	55872754	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:55872754C>A	uc010riy.1	+	1	236	c.236C>A	c.(235-237)ACA>AAA	p.T79K		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	79	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					ACTGTCGTCACACCTAAAACC	0.423										HNSCC(53;0.14)			87	286	---	---	---	---	PASS
OR8H2	390151	broad.mit.edu	37	11	55872756	55872756	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:55872756C>A	uc010riy.1	+	1	238	c.238C>A	c.(238-240)CCT>ACT	p.P80T		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)					TGTCGTCACACCTAAAACCTT	0.423										HNSCC(53;0.14)			84	290	---	---	---	---	PASS
OR8K3	219473	broad.mit.edu	37	11	56086588	56086588	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:56086588C>A	uc010rjf.1	+	1	806	c.806C>A	c.(805-807)ACT>AAT	p.T269N		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					TCCTTTGACACTGATAAAGTG	0.433													19	15	---	---	---	---	PASS
OR5B12	390191	broad.mit.edu	37	11	58206693	58206693	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:58206693C>G	uc010rkh.1	-	1	932	c.932G>C	c.(931-933)GGA>GCA	p.G311A		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAATATGAATCCTATAGAGGC	0.274													2	8	---	---	---	---	PASS
EML3	256364	broad.mit.edu	37	11	62371615	62371615	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:62371615C>G	uc001ntu.1	-	17	2349	c.2041G>C	c.(2041-2043)GAG>CAG	p.E681Q	MTA2_uc010rlx.1_5'Flank|MTA2_uc001ntq.1_5'Flank|EML3_uc001ntr.1_Missense_Mutation_p.E653Q|EML3_uc001nts.1_Missense_Mutation_p.E653Q|EML3_uc001ntt.1_Missense_Mutation_p.E565Q|EML3_uc010rly.1_Missense_Mutation_p.E681Q	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	681	WD 7.					cytoplasm|microtubule	protein binding			ovary(1)	1						GAGAGCTGCTCATTGCCATCA	0.557													19	51	---	---	---	---	PASS
GANAB	23193	broad.mit.edu	37	11	62393327	62393327	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:62393327C>A	uc001nub.2	-	24	2828	c.2795G>T	c.(2794-2796)GGC>GTC	p.G932V	GANAB_uc001ntz.2_Missense_Mutation_p.G119V|GANAB_uc001nua.2_Missense_Mutation_p.G954V|GANAB_uc001nuc.2_Missense_Mutation_p.G835V|GANAB_uc010rma.1_Missense_Mutation_p.G840V|GANAB_uc010rmb.1_Missense_Mutation_p.G818V	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	932					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						CACATTGATGCCAGGCTTGCG	0.522													33	26	---	---	---	---	PASS
INTS5	80789	broad.mit.edu	37	11	62417264	62417264	+	Silent	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:62417264A>T	uc001nud.2	-	2	341	c.288T>A	c.(286-288)CCT>CCA	p.P96P		NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	96					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						GACCAGCCACAGGGGTTTCAT	0.602													91	56	---	---	---	---	PASS
PYGM	5837	broad.mit.edu	37	11	64522800	64522800	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:64522800A>G	uc001oax.3	-	7	1617	c.800T>C	c.(799-801)GTG>GCG	p.V267A	PYGM_uc001oay.3_Missense_Mutation_p.V179A	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	267					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	TCGGTCCAACACAGCCTGGAT	0.622													58	51	---	---	---	---	PASS
NAALADL1	10004	broad.mit.edu	37	11	64825606	64825606	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:64825606G>C	uc001ocn.2	-	2	318	c.302C>G	c.(301-303)ACG>AGG	p.T101R	NAALADL1_uc010rnw.1_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	101	Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						CACTTCGTACGTGGAGGCCTC	0.667													30	59	---	---	---	---	PASS
CPT1A	1374	broad.mit.edu	37	11	68582853	68582853	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:68582853T>G	uc001oog.3	-	2	260	c.90A>C	c.(88-90)CAA>CAC	p.Q30H	CPT1A_uc001oof.3_Missense_Mutation_p.Q30H|CPT1A_uc009ysj.2_Missense_Mutation_p.Q30H	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	30	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	AGAGATAGATTTGTCTAAGAG	0.438													29	31	---	---	---	---	PASS
ARHGEF17	9828	broad.mit.edu	37	11	73021849	73021849	+	Missense_Mutation	SNP	G	C	C	rs139702671	byFrequency	TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:73021849G>C	uc001otu.2	+	1	2187	c.2166G>C	c.(2164-2166)TTG>TTC	p.L722F		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	722				L -> F (in Ref. 5; BAA20795).	actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GGAGCGAATTGAGCAATGGGG	0.652													30	93	---	---	---	---	PASS
PAAF1	80227	broad.mit.edu	37	11	73638345	73638345	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:73638345A>C	uc001ouk.1	+	12	1151	c.1117A>C	c.(1117-1119)AAG>CAG	p.K373Q	PAAF1_uc001oul.1_Missense_Mutation_p.K356Q|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.K356Q|PAAF1_uc001oun.1_RNA	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	373	WD 5.				interspecies interaction between organisms	proteasome complex	protein binding			ovary(1)|skin(1)	2	Breast(11;7.42e-05)					CACATGGGAGAAGCAGATCTA	0.453													13	45	---	---	---	---	PASS
WNT11	7481	broad.mit.edu	37	11	75902837	75902837	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:75902837G>A	uc001oxe.2	-	4	784	c.661C>T	c.(661-663)CGC>TGC	p.R221C	WNT11_uc001oxf.1_Missense_Mutation_p.R221C	NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	221					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			lung(1)|skin(1)	2						CAGCAGGTGCGGATGGAGCAG	0.637													73	38	---	---	---	---	PASS
ODZ4	26011	broad.mit.edu	37	11	78380188	78380188	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:78380188C>T	uc001ozl.3	-	32	7665	c.7202G>A	c.(7201-7203)GGC>GAC	p.G2401D	ODZ4_uc001ozk.3_Missense_Mutation_p.G626D|ODZ4_uc009yvb.1_Missense_Mutation_p.G985D	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2401	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						ACCATGGTAGCCTATGATGAT	0.517													11	33	---	---	---	---	PASS
KIAA1377	57562	broad.mit.edu	37	11	101832922	101832922	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:101832922A>T	uc001pgm.2	+	6	1426	c.1156A>T	c.(1156-1158)ACC>TCC	p.T386S	KIAA1377_uc001pgn.2_Missense_Mutation_p.T342S|KIAA1377_uc010run.1_Missense_Mutation_p.T187S|KIAA1377_uc009yxa.1_Missense_Mutation_p.T187S	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	386							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATGTGAAAAGACCTCTGAAAC	0.383													12	55	---	---	---	---	PASS
GUCY1A2	2977	broad.mit.edu	37	11	106810216	106810216	+	Silent	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:106810216A>T	uc001pjg.1	-	4	1566	c.1176T>A	c.(1174-1176)CCT>CCA	p.P392P	GUCY1A2_uc010rvo.1_Silent_p.P392P|GUCY1A2_uc009yxn.1_Silent_p.P392P	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	392					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CAGAAGCCTCAGGCTTGGTTC	0.433													24	108	---	---	---	---	PASS
ATM	472	broad.mit.edu	37	11	108155174	108155174	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:108155174A>G	uc001pkb.1	+	26	4352	c.3967A>G	c.(3967-3969)AAA>GAA	p.K1323E	ATM_uc009yxr.1_Missense_Mutation_p.K1323E|ATM_uc001pkd.3_5'Flank|ATM_uc001pke.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1323					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.V1292_Q1331del(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGATATGCTTAAAAGTGAAAA	0.353			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			7	43	---	---	---	---	PASS
HSPB2	3316	broad.mit.edu	37	11	111784533	111784533	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:111784533A>G	uc001pmg.2	+	2	557	c.463A>G	c.(463-465)ACA>GCA	p.T155A	CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmh.2_Intron	NM_001541	NP_001532	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	155					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			ovary(2)|skin(1)	3		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		ACATTTGGACACAGAGGTCAA	0.587													51	29	---	---	---	---	PASS
PCSK7	9159	broad.mit.edu	37	11	117097994	117097994	+	Silent	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:117097994G>T	uc001pqr.2	-	5	849	c.648C>A	c.(646-648)CCC>CCA	p.P216P		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	216	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGTGGGGCATGGGGTCAGGGT	0.567			T	IGH@	MLCLS								104	64	---	---	---	---	PASS
DSCAML1	57453	broad.mit.edu	37	11	117303860	117303860	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:117303860G>T	uc001prh.1	-	29	5202	c.5200C>A	c.(5200-5202)CAA>AAA	p.Q1734K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1674	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCACCCAGTTGCTTGATGCCT	0.577													14	29	---	---	---	---	PASS
PHLDB1	23187	broad.mit.edu	37	11	118498322	118498322	+	Silent	SNP	A	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:118498322A>C	uc001ptr.1	+	7	1136	c.783A>C	c.(781-783)CCA>CCC	p.P261P	PHLDB1_uc010ryh.1_Silent_p.P260P|PHLDB1_uc001pts.2_Silent_p.P261P|PHLDB1_uc001ptt.2_Silent_p.P261P|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.P61P|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	261											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTCTTCACCAGCCAGCAGTG	0.632													9	285	---	---	---	---	PASS
GRIK4	2900	broad.mit.edu	37	11	120833331	120833331	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:120833331A>C	uc001pxn.2	+	18	2494	c.2207A>C	c.(2206-2208)AAC>ACC	p.N736T	GRIK4_uc009zav.1_Missense_Mutation_p.N736T|GRIK4_uc009zaw.1_Missense_Mutation_p.N736T|GRIK4_uc009zax.1_Missense_Mutation_p.N736T	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	736	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CGAAACTGCAACCTCACTCAG	0.552													9	108	---	---	---	---	PASS
UBASH3B	84959	broad.mit.edu	37	11	122653834	122653834	+	Silent	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:122653834C>A	uc001pyi.3	+	5	1035	c.675C>A	c.(673-675)CCC>CCA	p.P225P		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	225						cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GCCACCTACCCACCCTAGAGA	0.483													130	154	---	---	---	---	PASS
KCNJ1	3758	broad.mit.edu	37	11	128709123	128709123	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:128709123C>A	uc001qeo.1	-	2	1124	c.1073G>T	c.(1072-1074)TGC>TTC	p.C358F	KCNJ1_uc001qep.1_Missense_Mutation_p.C339F|KCNJ1_uc001qeq.1_Missense_Mutation_p.C339F|KCNJ1_uc001qer.1_Missense_Mutation_p.C339F|KCNJ1_uc001qes.1_Missense_Mutation_p.C339F	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	358	Cytoplasmic (By similarity).				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			ovary(3)|breast(1)	4	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATTATAAAGGCACATGGCACA	0.433													39	20	---	---	---	---	PASS
IGSF9B	22997	broad.mit.edu	37	11	133791061	133791061	+	Silent	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr11:133791061G>C	uc001qgx.3	-	18	2790	c.2559C>G	c.(2557-2559)GGC>GGG	p.G853G		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	853	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCCGTCAGGGCCTCTGCTGA	0.642													6	136	---	---	---	---	PASS
SLC6A13	6540	broad.mit.edu	37	12	335599	335599	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:335599C>A	uc001qic.1	-	9	1070	c.1017G>T	c.(1015-1017)ATG>ATT	p.M339I	SLC6A13_uc009zdj.1_Missense_Mutation_p.M329I|SLC6A13_uc010sdl.1_Missense_Mutation_p.M247I	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	339	Helical; Name=7; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GCTCCTGAGACATGAAGCCCA	0.617													11	70	---	---	---	---	PASS
ACSM4	341392	broad.mit.edu	37	12	7470652	7470652	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:7470652C>G	uc001qsx.1	+	5	795	c.795C>G	c.(793-795)ATC>ATG	p.I265M		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	265					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0						CCTCAGATATCATATGGAATA	0.418													21	33	---	---	---	---	PASS
SLC2A3	6515	broad.mit.edu	37	12	8075526	8075526	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:8075526A>G	uc001qtr.2	-	9	1425	c.1163T>C	c.(1162-1164)ATT>ACT	p.I388T		NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	388	Helical; Name=10; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TTCGGCCACAATAAACCAGGG	0.537													44	95	---	---	---	---	PASS
GUCY2C	2984	broad.mit.edu	37	12	14798171	14798171	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:14798171T>C	uc001rcd.2	-	16	1926	c.1789A>G	c.(1789-1791)ATT>GTT	p.I597V		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	597	Cytoplasmic (Potential).|Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						ACCTTAGCAATGTCATACAAG	0.269													39	44	---	---	---	---	PASS
SLCO1B3	28234	broad.mit.edu	37	12	21242884	21242884	+	Silent	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:21242884A>G	uc010sil.1	+	16	2156	c.2091A>G	c.(2089-2091)GTA>GTG	p.V697V	LST-3TM12_uc010sim.1_Silent_p.V636V|LST-3TM12_uc010sin.1_Silent_p.V589V			Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					TATTTCCAGTACTTGTTTTAC	0.289													10	10	---	---	---	---	PASS
C12orf72	254013	broad.mit.edu	37	12	31814953	31814953	+	Silent	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:31814953A>G	uc009zjr.2	+	2	275	c.66A>G	c.(64-66)CGA>CGG	p.R22R	C12orf72_uc001rkl.2_Silent_p.R22R|C12orf72_uc001rkm.2_Silent_p.R22R	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	22						cytoplasm	protein methyltransferase activity				0						AGGCTCTGCGAAGCAGTGGTC	0.517													4	231	---	---	---	---	PASS
H3F3C	440093	broad.mit.edu	37	12	31944836	31944836	+	Missense_Mutation	SNP	C	T	T	rs148314204		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:31944836C>T	uc001rkr.2	-	1	340	c.265G>A	c.(265-267)GTC>ATC	p.V89I		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	histone H3-like	89					nucleosome assembly	nucleosome|nucleus	DNA binding				0						AGCGCACCGACGGCTGCGCTC	0.577										HNSCC(67;0.2)			15	213	---	---	---	---	PASS
H3F3C	440093	broad.mit.edu	37	12	31944861	31944861	+	Silent	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:31944861A>G	uc001rkr.2	-	1	315	c.240T>C	c.(238-240)ACT>ACC	p.T80T		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	histone H3-like	80					nucleosome assembly	nucleosome|nucleus	DNA binding				0						ACCTCAGGTCAGTGTTGAAAT	0.577										HNSCC(67;0.2)			10	205	---	---	---	---	PASS
H3F3C	440093	broad.mit.edu	37	12	31944972	31944972	+	Silent	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:31944972A>G	uc001rkr.2	-	1	204	c.129T>C	c.(127-129)CCT>CCC	p.P43P		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	histone H3-like	43					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CCACGGTCCCAGGCCTGTAGC	0.617										HNSCC(67;0.2)			11	143	---	---	---	---	PASS
H3F3C	440093	broad.mit.edu	37	12	31945071	31945071	+	Silent	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:31945071T>C	uc001rkr.2	-	1	105	c.30A>G	c.(28-30)AAA>AAG	p.K10K		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	histone H3-like	10					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CACCGGTGGATTTACGAGCAG	0.607										HNSCC(67;0.2)			16	144	---	---	---	---	PASS
ADAMTS20	80070	broad.mit.edu	37	12	43860461	43860461	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:43860461A>C	uc010skx.1	-	9	1361	c.1361T>G	c.(1360-1362)TTC>TGC	p.F454C		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	454	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTACTCTAGGAATTCAGTAAC	0.303													3	23	---	---	---	---	PASS
COL2A1	1280	broad.mit.edu	37	12	48383572	48383572	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:48383572T>G	uc001rqu.2	-	17	1221	c.1040A>C	c.(1039-1041)GAT>GCT	p.D347A	COL2A1_uc009zkw.2_5'Flank|COL2A1_uc001rqv.2_Missense_Mutation_p.D278A	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	347	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGCTGACCATCGTTGCCTCG	0.582													40	133	---	---	---	---	PASS
TUBA1B	10376	broad.mit.edu	37	12	49523150	49523150	+	Missense_Mutation	SNP	G	C	C	rs11546610		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:49523150G>C	uc001rtm.2	-	3	471	c.250C>G	c.(250-252)CGC>GGC	p.R84G	TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_Missense_Mutation_p.R49G|TUBA1B_uc001rtl.2_Missense_Mutation_p.R49G|TUBA1B_uc001rtn.2_Intron	NM_006082	NP_006073	P68363	TBA1B_HUMAN	tubulin, alpha, ubiquitous	84					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding				0						AAGAGCTGGCGGTAGGTGCCA	0.562													30	161	---	---	---	---	PASS
PRPH	5630	broad.mit.edu	37	12	49689166	49689166	+	Silent	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:49689166T>C	uc001rtu.2	+	1	258	c.183T>C	c.(181-183)CGT>CGC	p.R61R		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	61	Head.						structural molecule activity				0						GCAGCTTCCGTAGCCCCCGAG	0.736													16	20	---	---	---	---	PASS
DIP2B	57609	broad.mit.edu	37	12	51069161	51069161	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:51069161C>A	uc001rwv.2	+	7	1002	c.846C>A	c.(844-846)AAC>AAA	p.N282K	DIP2B_uc001rwu.2_Missense_Mutation_p.N282K|DIP2B_uc009zls.1_Missense_Mutation_p.N164K	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	282						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						AGCTTCTGAACACTCTGAAAC	0.348													14	54	---	---	---	---	PASS
KRT77	374454	broad.mit.edu	37	12	53085745	53085745	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:53085745T>C	uc001saw.2	-	8	1468	c.1439A>G	c.(1438-1440)GAG>GGG	p.E480G	KRT77_uc009zmi.2_Missense_Mutation_p.E238G	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	480	Tail.					keratin filament	structural molecule activity			ovary(1)	1						GCTCTGCAGCTCTCCTGACAT	0.607													12	79	---	---	---	---	PASS
KRT77	374454	broad.mit.edu	37	12	53085746	53085746	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:53085746C>A	uc001saw.2	-	8	1467	c.1438G>T	c.(1438-1440)GAG>TAG	p.E480*	KRT77_uc009zmi.2_Nonsense_Mutation_p.E238*	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	480	Tail.					keratin filament	structural molecule activity			ovary(1)	1						CTCTGCAGCTCTCCTGACATC	0.612													12	78	---	---	---	---	PASS
AMHR2	269	broad.mit.edu	37	12	53825169	53825169	+	Missense_Mutation	SNP	G	A	A	rs142064656		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:53825169G>A	uc001scx.1	+	11	1712	c.1634G>A	c.(1633-1635)AGG>AAG	p.R545K	AMHR2_uc009zmy.1_3'UTR	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	545	Cytoplasmic (Potential).				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)	CTCCCCTGTAGGCCTCAGCGG	0.562									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				42	124	---	---	---	---	PASS
NFE2	4778	broad.mit.edu	37	12	54686872	54686872	+	Silent	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:54686872A>T	uc009znk.2	-	2	918	c.408T>A	c.(406-408)CCT>CCA	p.P136P	NFE2_uc001sfq.2_Silent_p.P136P|NFE2_uc001sfr.3_Silent_p.P136P|NFE2_uc009znl.2_Silent_p.P136P	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	136	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						CTTGGGGCTTAGGTGGCCCTG	0.597													54	246	---	---	---	---	PASS
PRIM1	5557	broad.mit.edu	37	12	57146041	57146041	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:57146041T>A	uc001smd.2	-	1	106	c.42A>T	c.(40-42)AAA>AAT	p.K14N	PRIM1_uc001sme.1_RNA|PRIM1_uc009zoz.1_RNA|PRIM1_uc001smf.2_Missense_Mutation_p.K14N	NM_000946	NP_000937	P49642	PRI1_HUMAN	DNA primase polypeptide 1	14					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	DNA primase activity|metal ion binding				0						GGTAATAAAGTTTAAGCAGCT	0.572													6	8	---	---	---	---	PASS
C12orf63	374467	broad.mit.edu	37	12	97137237	97137237	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:97137237G>T	uc001tet.1	+	20	2630	c.2552G>T	c.(2551-2553)AGC>ATC	p.S851I		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	851										skin(6)|ovary(1)	7						GAGGCAAAAAGCGCAGGGGAC	0.413													16	49	---	---	---	---	PASS
C12orf63	374467	broad.mit.edu	37	12	97151344	97151344	+	Nonsense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:97151344C>G	uc001tet.1	+	25	3371	c.3293C>G	c.(3292-3294)TCA>TGA	p.S1098*		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1098										skin(6)|ovary(1)	7						ATAAAAATTTCAGGATCACCA	0.303													2	4	---	---	---	---	PASS
NUP37	79023	broad.mit.edu	37	12	102468178	102468178	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:102468178A>G	uc001tjc.2	-	9	1000	c.935T>C	c.(934-936)GTA>GCA	p.V312A		NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	312	WD 4.				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			ovary(1)	1						TCCTCCAATTACACACAGAGG	0.398													15	10	---	---	---	---	PASS
USP30	84749	broad.mit.edu	37	12	109520498	109520498	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:109520498A>G	uc010sxi.1	+	10	1002	c.898A>G	c.(898-900)AAG>GAG	p.K300E	USP30_uc001tnu.3_Missense_Mutation_p.K269E|USP30_uc001tnw.3_Missense_Mutation_p.K17E	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	300	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						GAACGGGGAAAAGGTGGAACA	0.458													6	57	---	---	---	---	PASS
MMAB	326625	broad.mit.edu	37	12	109998843	109998843	+	Splice_Site	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:109998843A>T	uc001tou.2	-	7	657	c.584_splice	c.e7+1	p.R195_splice	MMAB_uc001tov.2_Splice_Site|MMAB_uc001tow.2_Splice_Site|MMAB_uc010sxq.1_Splice_Site_p.R104_splice|MMAB_uc001tox.2_Splice_Site_p.R143_splice	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	cob(I)alamin adenosyltransferase precursor						cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity				0					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCCCTCTTACCGTCTCTCG	0.358													15	58	---	---	---	---	PASS
C12orf51	283450	broad.mit.edu	37	12	112669453	112669453	+	Nonsense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:112669453G>A	uc009zwc.2	-	32	4816	c.4798C>T	c.(4798-4800)CAG>TAG	p.Q1600*		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						AGGCCTGACTGTGCCCACTTG	0.542													25	58	---	---	---	---	PASS
PLBD2	196463	broad.mit.edu	37	12	113823073	113823073	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:113823073C>G	uc001tve.2	+	9	1306	c.1271C>G	c.(1270-1272)GCC>GGC	p.A424G	PLBD2_uc001tvf.2_Missense_Mutation_p.A392G	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	424					lipid catabolic process	lysosomal lumen	hydrolase activity				0						ACCTACTGGGCCAGCTACAAC	0.582													34	55	---	---	---	---	PASS
NOS1	4842	broad.mit.edu	37	12	117696860	117696860	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:117696860C>T	uc001twm.1	-	15	3129	c.2443G>A	c.(2443-2445)GGC>AGC	p.G815S	NOS1_uc001twn.1_5'Flank	NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	815	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCTCCATTGCCAAAGGTGCTG	0.502													24	55	---	---	---	---	PASS
DNAH10	196385	broad.mit.edu	37	12	124272399	124272399	+	Silent	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:124272399C>A	uc001uft.3	+	10	1312	c.1287C>A	c.(1285-1287)ACC>ACA	p.T429T	DNAH10_uc010tav.1_5'Flank|DNAH10_uc010taw.1_5'Flank	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	429	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCAGGAACACCCTCAGGCTGT	0.582													7	10	---	---	---	---	PASS
NCOR2	9612	broad.mit.edu	37	12	124841232	124841232	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:124841232G>A	uc010tba.1	-	23	3338	c.3221C>T	c.(3220-3222)TCC>TTC	p.S1074F	NCOR2_uc010tay.1_Missense_Mutation_p.S1073F|NCOR2_uc010taz.1_Missense_Mutation_p.S1057F|NCOR2_uc010tbb.1_Missense_Mutation_p.S1066F|NCOR2_uc010tbc.1_Missense_Mutation_p.S1056F|NCOR2_uc001ugj.1_Missense_Mutation_p.S1074F	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1074					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCATGCGGGGAGGCCTTGAT	0.672													20	28	---	---	---	---	PASS
SKA3	221150	broad.mit.edu	37	13	21742475	21742475	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:21742475G>C	uc001unt.2	-	4	489	c.395C>G	c.(394-396)ACT>AGT	p.T132S	SKA3_uc001unv.2_Missense_Mutation_p.T50S|SKA3_uc001unu.2_Missense_Mutation_p.T132S	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	132					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0						TTTCACATCAGTCTTCTGAAA	0.408													20	46	---	---	---	---	PASS
PABPC3	5042	broad.mit.edu	37	13	25672058	25672058	+	Silent	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:25672058G>T	uc001upy.2	+	1	1783	c.1722G>T	c.(1720-1722)GGG>GGT	p.G574G		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	574	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCTTGCTGGGAAAATCACTG	0.463													6	150	---	---	---	---	PASS
PABPC3	5042	broad.mit.edu	37	13	25672105	25672105	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:25672105A>C	uc001upy.2	+	1	1830	c.1769A>C	c.(1768-1770)TAT>TCT	p.Y590S		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	590	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GAACTTCTTTATATGCTCGAG	0.448													14	131	---	---	---	---	PASS
PABPC3	5042	broad.mit.edu	37	13	25672188	25672188	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:25672188A>G	uc001upy.2	+	1	1913	c.1852A>G	c.(1852-1854)ACC>GCC	p.T618A		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	618					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TAAAGAGGCTACCCAGAAAGC	0.408													12	165	---	---	---	---	PASS
MTMR6	9107	broad.mit.edu	37	13	25840394	25840394	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:25840394T>C	uc001uqf.3	-	4	654	c.335A>G	c.(334-336)TAT>TGT	p.Y112C	MTMR6_uc001uqe.1_Missense_Mutation_p.Y112C	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	112						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTTGGGATTATAAGAAAATGC	0.338													9	18	---	---	---	---	PASS
MYO16	23026	broad.mit.edu	37	13	109459128	109459128	+	Silent	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:109459128C>G	uc001vqt.1	+	7	903	c.777C>G	c.(775-777)CTC>CTG	p.L259L	MYO16_uc010agk.1_Silent_p.L281L|MYO16_uc001vqu.1_Silent_p.L59L	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	259	ANK 7.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GGACTCCCCTCCACTTGGCAG	0.363													17	17	---	---	---	---	PASS
AKAP6	9472	broad.mit.edu	37	14	33165250	33165250	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:33165250G>C	uc001wrq.2	+	9	3104	c.2934G>C	c.(2932-2934)ATG>ATC	p.M978I	AKAP6_uc010aml.2_Missense_Mutation_p.M975I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	978					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGATTGACATGGAGTCCCTTG	0.463													6	30	---	---	---	---	PASS
PAX9	5083	broad.mit.edu	37	14	37145492	37145492	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:37145492G>C	uc001wty.3	+	5	1578	c.861G>C	c.(859-861)ATG>ATC	p.M287I	PAX9_uc010amq.2_RNA	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	287					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CGCCTTACATGACCTACAGTG	0.562													202	161	---	---	---	---	PASS
MIPOL1	145282	broad.mit.edu	37	14	38016160	38016160	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:38016160T>G	uc001wuc.2	+	14	1816	c.1313T>G	c.(1312-1314)ATG>AGG	p.M438R	MIPOL1_uc001wud.2_Missense_Mutation_p.M438R|MIPOL1_uc010ams.2_Missense_Mutation_p.M438R|MIPOL1_uc001wue.2_Missense_Mutation_p.M407R|MIPOL1_uc010amt.2_Missense_Mutation_p.M257R	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	438										ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ACCGGGACCATGAGGACAGTG	0.483													8	32	---	---	---	---	PASS
TMEM63C	57156	broad.mit.edu	37	14	77709389	77709389	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:77709389A>G	uc001xtf.2	+	15	1543	c.1331A>G	c.(1330-1332)GAG>GGG	p.E444G	TMEM63C_uc010asq.1_Missense_Mutation_p.E444G	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	444						integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CGCCCCATCGAGAAGCTGCAG	0.572													42	5	---	---	---	---	PASS
CYP46A1	10858	broad.mit.edu	37	14	100173937	100173937	+	Silent	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:100173937G>T	uc001ygo.2	+	7	615	c.615G>T	c.(613-615)CTG>CTT	p.L205L	CYP46A1_uc001ygn.1_Silent_p.L167L|CYP46A1_uc001ygp.2_Silent_p.L52L	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	205					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GTATGCTGCTGGGTGCCCAGA	0.592													82	163	---	---	---	---	PASS
PLD4	122618	broad.mit.edu	37	14	105398383	105398383	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:105398383G>T	uc001ypu.1	+	9	1234	c.1093G>T	c.(1093-1095)GCA>TCA	p.A365S	PLD4_uc010tyl.1_Missense_Mutation_p.A372S	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	365					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	GCTGCGGGCGGCAGCCTTCGG	0.711													5	49	---	---	---	---	PASS
AHNAK2	113146	broad.mit.edu	37	14	105423996	105423996	+	Silent	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr14:105423996C>T	uc010axc.1	-	2	189	c.69G>A	c.(67-69)CAG>CAA	p.Q23Q	AHNAK2_uc001ypx.2_5'UTR	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	23						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGGGCTGCAGCTGACGGCCGG	0.622													10	15	---	---	---	---	PASS
MKRN3	7681	broad.mit.edu	37	15	23812425	23812425	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:23812425T>A	uc001ywh.3	+	1	1972	c.1496T>A	c.(1495-1497)CTG>CAG	p.L499Q	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	499						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CATTATGAGCTGGAAGAATAT	0.473													41	83	---	---	---	---	PASS
APBA2	321	broad.mit.edu	37	15	29368283	29368283	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:29368283G>A	uc001zck.2	+	5	1265	c.1058G>A	c.(1057-1059)AGT>AAT	p.S353N	APBA2_uc010azj.2_Missense_Mutation_p.S353N|APBA2_uc010uat.1_Missense_Mutation_p.S353N|APBA2_uc001zcl.2_Missense_Mutation_p.S353N|APBA2_uc001zcm.1_Missense_Mutation_p.S57N	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	353					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TCATTTCCAAGTTTTGTGGCT	0.373													60	42	---	---	---	---	PASS
RYR3	6263	broad.mit.edu	37	15	34080535	34080535	+	Silent	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:34080535T>C	uc001zhi.2	+	67	9776	c.9706T>C	c.(9706-9708)TTG>CTG	p.L3236L	RYR3_uc010bar.2_Silent_p.L3236L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3236					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAGGAGCAGTTGAAAGCCGA	0.562													106	84	---	---	---	---	PASS
GJD2	57369	broad.mit.edu	37	15	35045257	35045257	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:35045257T>G	uc001zis.1	-	2	388	c.388A>C	c.(388-390)ACT>CCT	p.T130P	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	130	Cytoplasmic (Potential).|Poly-Gly.				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CCACCCCCAGTTCCTCCAGGA	0.562													7	263	---	---	---	---	PASS
DISP2	85455	broad.mit.edu	37	15	40661237	40661237	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:40661237C>A	uc001zlk.1	+	8	3013	c.2924C>A	c.(2923-2925)GCC>GAC	p.A975D		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	975	Helical; (Potential).				smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TTGGCGCTGGCCTTTGCCACA	0.617													41	80	---	---	---	---	PASS
VPS18	57617	broad.mit.edu	37	15	41192573	41192573	+	Silent	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:41192573C>G	uc001zne.2	+	4	1896	c.1557C>G	c.(1555-1557)ACC>ACG	p.T519T		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	519					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACCGAGAAACCAAGGAATGCT	0.622													22	205	---	---	---	---	PASS
EPB42	2038	broad.mit.edu	37	15	43502602	43502602	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:43502602C>A	uc001zra.3	-	5	885	c.585G>T	c.(583-585)TTG>TTT	p.L195F	EPB42_uc001zqz.3_5'Flank|EPB42_uc010bde.2_Missense_Mutation_p.L40F|EPB42_uc001zrb.3_Missense_Mutation_p.L225F|EPB42_uc010udm.1_Missense_Mutation_p.L117F	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	195					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCTTGCTCAGCAAGCGCAGGC	0.602													132	102	---	---	---	---	PASS
SPG11	80208	broad.mit.edu	37	15	44907619	44907619	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:44907619G>T	uc001ztx.2	-	16	3011	c.2980C>A	c.(2980-2982)CTC>ATC	p.L994I	SPG11_uc010ueh.1_Missense_Mutation_p.L994I|SPG11_uc010uei.1_Missense_Mutation_p.L994I|SPG11_uc001ztz.1_Missense_Mutation_p.L153I	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	994	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAACAATAGAGAATGAATTGA	0.428													6	32	---	---	---	---	PASS
MAN2C1	4123	broad.mit.edu	37	15	75649169	75649169	+	Silent	SNP	G	A	A	rs142107948		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:75649169G>A	uc002baf.2	-	22	2639	c.2622C>T	c.(2620-2622)GGC>GGT	p.G874G	MAN2C1_uc002bag.2_Silent_p.G874G|MAN2C1_uc002bah.2_Silent_p.G891G|MAN2C1_uc010bkk.2_Silent_p.G775G	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	874					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						GCACTGACGCGCCATACTTGC	0.607													7	99	---	---	---	---	PASS
KIAA1024	23251	broad.mit.edu	37	15	79755626	79755626	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:79755626C>T	uc002bew.1	+	3	2591	c.2516C>T	c.(2515-2517)GCG>GTG	p.A839V	KIAA1024_uc010unk.1_Missense_Mutation_p.A839V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	839						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						GCACGGAATGCGGGCGACAAG	0.612													4	118	---	---	---	---	PASS
PLIN1	5346	broad.mit.edu	37	15	90213363	90213363	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:90213363C>A	uc010upx.1	-	5	556	c.446G>T	c.(445-447)GGG>GTG	p.G149V	PLIN1_uc002boh.2_Missense_Mutation_p.G149V	NM_001145311	NP_001138783	O60240	PLIN1_HUMAN	perilipin 1	149					triglyceride catabolic process	lipid particle	lipid binding			central_nervous_system(1)|skin(1)	2						AAGCTCGCACCCGGCCAAAGC	0.647													28	19	---	---	---	---	PASS
FES	2242	broad.mit.edu	37	15	91428341	91428341	+	Silent	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:91428341C>A	uc002bpv.2	+	2	162	c.66C>A	c.(64-66)GCC>GCA	p.A22A	FES_uc010uqj.1_Silent_p.A22A|FES_uc010uqk.1_Silent_p.A22A|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.A22A|FES_uc002bpx.2_Silent_p.A22A|FES_uc002bpy.2_Silent_p.A22A	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	22	FCH.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGGAGGCCGAGCTTCGTC	0.602													157	149	---	---	---	---	PASS
SPATA8	145946	broad.mit.edu	37	15	97326900	97326900	+	Silent	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr15:97326900G>A	uc002bue.2	+	1	225	c.15G>A	c.(13-15)GGG>GGA	p.G5G	uc010uro.1_5'Flank|uc010urp.1_5'Flank|uc002bud.1_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	5										ovary(1)|skin(1)	2	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			CCCCGGCTGGGATGTCAGGGG	0.567													40	47	---	---	---	---	PASS
CLCN7	1186	broad.mit.edu	37	16	1510933	1510933	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:1510933T>C	uc002clv.2	-	5	478	c.368A>G	c.(367-369)GAG>GGG	p.E123G	CLCN7_uc002clw.2_Missense_Mutation_p.E99G	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	123	Cytoplasmic (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				GCGCTTGATCTCCACCGTCCG	0.662													10	110	---	---	---	---	PASS
GFER	2671	broad.mit.edu	37	16	2035935	2035935	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:2035935A>G	uc002cob.2	+	3	594	c.524A>G	c.(523-525)AAT>AGT	p.N175S	GFER_uc002coc.2_Missense_Mutation_p.N100S	NM_005262	NP_005253	P55789	ALR_HUMAN	erv1-like growth factor	175	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity				0						CACCTGCACAATGAAGTGAAC	0.592													186	148	---	---	---	---	PASS
FLYWCH1	84256	broad.mit.edu	37	16	2979987	2979987	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:2979987C>G	uc002csd.2	+	3	664	c.301C>G	c.(301-303)CAG>GAG	p.Q101E	FLYWCH1_uc002csb.2_Missense_Mutation_p.Q101E|FLYWCH1_uc002csc.2_Missense_Mutation_p.Q101E	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	101						nucleus	DNA binding|metal ion binding				0						GATGCCTGAACAGAAGTGCAG	0.667													16	44	---	---	---	---	PASS
CREBBP	1387	broad.mit.edu	37	16	3788651	3788651	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:3788651C>A	uc002cvv.2	-	26	4507	c.4303G>T	c.(4303-4305)GAT>TAT	p.D1435Y	CREBBP_uc002cvw.2_Missense_Mutation_p.D1397Y	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1435	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.D1435G(1)|p.D1435E(1)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAATACTATCCAGATAAGAA	0.433			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				10	38	---	---	---	---	PASS
C16orf89	146556	broad.mit.edu	37	16	5108554	5108554	+	Silent	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:5108554C>T	uc010bud.2	-	4	769	c.681G>A	c.(679-681)AAG>AAA	p.K227K	ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Silent_p.K227K	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	hypothetical protein LOC146556 isoform 1	189						extracellular region				ovary(1)|skin(1)	2						AGCAGCCGGGCTTGGTCATGA	0.647													20	144	---	---	---	---	PASS
RSL1D1	26156	broad.mit.edu	37	16	11933741	11933741	+	Silent	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:11933741A>G	uc002dbp.1	-	8	1030	c.957T>C	c.(955-957)GAT>GAC	p.D319D	RSL1D1_uc010buv.1_Silent_p.D318D|RSL1D1_uc010uyw.1_Silent_p.D99D|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	319					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						GTGCCACATCATCTTTACTAA	0.284													44	373	---	---	---	---	PASS
RBBP6	5930	broad.mit.edu	37	16	24581518	24581518	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:24581518A>T	uc002dmh.2	+	17	4547	c.3507A>T	c.(3505-3507)AAA>AAT	p.K1169N	RBBP6_uc010vcb.1_Missense_Mutation_p.K1036N|RBBP6_uc002dmi.2_Missense_Mutation_p.K1135N|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.K1002N	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1169					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		AAATCTCGAAACTAGAAGTGA	0.328													26	35	---	---	---	---	PASS
SRCAP	10847	broad.mit.edu	37	16	30715393	30715393	+	Silent	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:30715393G>A	uc002dze.1	+	4	448	c.63G>A	c.(61-63)TCG>TCA	p.S21S	SRCAP_uc002dzf.2_RNA	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	21					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGATGGTGTCGGACGGCATGA	0.373													71	98	---	---	---	---	PASS
ITGAX	3687	broad.mit.edu	37	16	31391846	31391846	+	Silent	SNP	A	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:31391846A>C	uc002ebu.1	+	28	3244	c.3177A>C	c.(3175-3177)ATA>ATC	p.I1059I	ITGAX_uc002ebt.2_Silent_p.I1059I	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	1059	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CTTTGCAGATATTGCAGAAGA	0.562													5	83	---	---	---	---	PASS
MYLK3	91807	broad.mit.edu	37	16	46781653	46781653	+	Silent	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:46781653G>A	uc002eei.3	-	1	569	c.453C>T	c.(451-453)GGC>GGT	p.G151G	MYLK3_uc010vge.1_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	151					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CACCTGGGCTGCCTCTCCTCC	0.657													100	21	---	---	---	---	PASS
SLC38A7	55238	broad.mit.edu	37	16	58706125	58706125	+	Silent	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:58706125A>G	uc002eod.1	-	9	1299	c.906T>C	c.(904-906)TTT>TTC	p.F302F	SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Silent_p.F213F|SLC38A7_uc002eoe.1_Silent_p.F302F	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	302	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						CAGCAGCTCCAAAGGTCAGGA	0.617													6	0	---	---	---	---	PASS
ZFHX3	463	broad.mit.edu	37	16	72829353	72829353	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:72829353T>A	uc002fck.2	-	9	7901	c.7228A>T	c.(7228-7230)ACA>TCA	p.T2410S	ZFHX3_uc002fcl.2_Missense_Mutation_p.T1496S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2410					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GCCTCCGCTGTAAGCTGCAAG	0.557													4	103	---	---	---	---	PASS
HTA	283902	broad.mit.edu	37	16	73126856	73126856	+	RNA	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr16:73126856C>A	uc010vmq.1	+	1		c.609C>A				NR_027756				Homo sapiens cDNA clone IMAGE:4544545, partial cds.												0						TGTATCCCTTCGTTTATGCTC	0.488													52	11	---	---	---	---	PASS
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:7578394T>A	uc002gim.2	-	5	730	c.536A>T	c.(535-537)CAT>CTT	p.H179L	TP53_uc002gig.1_Missense_Mutation_p.H179L|TP53_uc002gih.2_Missense_Mutation_p.H179L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47L|TP53_uc010cng.1_Missense_Mutation_p.H47L|TP53_uc002gii.1_Missense_Mutation_p.H47L|TP53_uc010cnh.1_Missense_Mutation_p.H179L|TP53_uc010cni.1_Missense_Mutation_p.H179L|TP53_uc002gij.2_Missense_Mutation_p.H179L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86L|TP53_uc002gio.2_Missense_Mutation_p.H47L|TP53_uc010vug.1_Missense_Mutation_p.H140L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	179	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			77	13	---	---	---	---	PASS
DNAH9	1770	broad.mit.edu	37	17	11806058	11806058	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:11806058T>C	uc002gne.2	+	60	11497	c.11429T>C	c.(11428-11430)TTC>TCC	p.F3810S	DNAH9_uc010coo.2_Missense_Mutation_p.F3104S|DNAH9_uc002gnf.2_Missense_Mutation_p.F122S|DNAH9_uc010vvh.1_Missense_Mutation_p.F163S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3810					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGGAAGAATTCTCTAATCTG	0.458													145	11	---	---	---	---	PASS
LRRC48	83450	broad.mit.edu	37	17	17910403	17910403	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:17910403C>T	uc010vxd.1	+	13	1647	c.1268C>T	c.(1267-1269)ACC>ATC	p.T423I	LRRC48_uc002gsa.2_Missense_Mutation_p.T423I|LRRC48_uc010vxc.1_Missense_Mutation_p.T423I|LRRC48_uc002gsb.2_Missense_Mutation_p.T423I	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	423						cytoplasm				pancreas(1)	1	all_neural(463;0.228)					TCTATCAGCACCCTGGAGAAG	0.532													31	3	---	---	---	---	PASS
SPAG5	10615	broad.mit.edu	37	17	26911459	26911459	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:26911459C>T	uc002hbq.2	-	12	2293	c.2201G>A	c.(2200-2202)AGC>AAC	p.S734N	SGK494_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	734	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					TTTTAGCTGGCTGTCCATGTT	0.507													142	30	---	---	---	---	PASS
SRCIN1	80725	broad.mit.edu	37	17	36704853	36704853	+	Silent	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:36704853G>A	uc002hqd.2	-	17	3435	c.3210C>T	c.(3208-3210)CCC>CCT	p.P1070P	SRCIN1_uc002hqf.1_Silent_p.P942P|SRCIN1_uc002hqe.2_Silent_p.P924P	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	942					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						AGGCCATGATGGGTGGTGTGG	0.647													57	10	---	---	---	---	PASS
IMP5	162540	broad.mit.edu	37	17	43922324	43922324	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:43922324A>T	uc010wka.1	+	1	52	c.52A>T	c.(52-54)ACC>TCC	p.T18S	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	18						integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		CCTCATCAGCACCGTGGCCGG	0.617													37	45	---	---	---	---	PASS
HOXB1	3211	broad.mit.edu	37	17	46607946	46607946	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:46607946G>C	uc002ink.1	-	1	327	c.321C>G	c.(319-321)GAC>GAG	p.D107E		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	107						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AATAGCCTCCGTCTCCTTCTG	0.657													76	172	---	---	---	---	PASS
OR4D2	124538	broad.mit.edu	37	17	56247896	56247896	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:56247896A>T	uc010wnp.1	+	1	880	c.880A>T	c.(880-882)ATG>TTG	p.M294L		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	294	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						GAACCAGGACATGCAGGCAGC	0.512													77	161	---	---	---	---	PASS
LPO	4025	broad.mit.edu	37	17	56344882	56344882	+	Silent	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:56344882T>C	uc002ivt.2	+	12	2182	c.1866T>C	c.(1864-1866)GGT>GGC	p.G622G	LPO_uc010wns.1_Silent_p.G563G|LPO_uc010dcp.2_Silent_p.G539G|LPO_uc010dcq.2_Silent_p.G293G|LPO_uc010dcr.2_Silent_p.G185G	NM_006151	NP_006142	P22079	PERL_HUMAN	lactoperoxidase isoform 1 preproprotein	622					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|breast(1)	2						TGGAAAGGGGTCGGGTGGGGC	0.612													25	70	---	---	---	---	PASS
SCN4A	6329	broad.mit.edu	37	17	62025314	62025314	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:62025314A>G	uc002jds.1	-	17	3331	c.3254T>C	c.(3253-3255)GTG>GCG	p.V1085A		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1085	III.|Helical; Name=S2 of repeat III; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GCCGTAGGCCACCCATTTGAG	0.542													35	60	---	---	---	---	PASS
H3F3B	3021	broad.mit.edu	37	17	73774729	73774729	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:73774729T>C	uc002jpl.2	-	4	491	c.358A>G	c.(358-360)ATC>GTC	p.I120V		NM_005324	NP_005315	P84243	H33_HUMAN	H3 histone, family 3B	120					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			ovary(1)	1	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGGCATGATGGTGACTCTC	0.498													93	180	---	---	---	---	PASS
EXOC7	23265	broad.mit.edu	37	17	74094068	74094068	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:74094068A>T	uc002jqs.2	-	5	544	c.449T>A	c.(448-450)CTG>CAG	p.L150Q	EXOC7_uc010dgv.1_Missense_Mutation_p.L97Q|EXOC7_uc002jqq.2_Missense_Mutation_p.L150Q|EXOC7_uc010wsw.1_Missense_Mutation_p.L150Q|EXOC7_uc010wsx.1_Missense_Mutation_p.L150Q|EXOC7_uc002jqr.2_Missense_Mutation_p.L150Q|EXOC7_uc010wsv.1_Missense_Mutation_p.L109Q|EXOC7_uc002jqu.2_Missense_Mutation_p.L150Q	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	150					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCGGACTCCAGGGCCTCCTT	0.587													65	74	---	---	---	---	PASS
QRICH2	84074	broad.mit.edu	37	17	74276381	74276381	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:74276381T>G	uc002jrd.1	-	11	4295	c.4115A>C	c.(4114-4116)GAG>GCG	p.E1372A	QRICH2_uc010wsz.1_Missense_Mutation_p.E1298A|QRICH2_uc010dgw.1_Missense_Mutation_p.E216A	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1372							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						GTTGTCCATCTCTGTGAGCAG	0.637													53	246	---	---	---	---	PASS
MIR636	693221	broad.mit.edu	37	17	74732560	74732560	+	RNA	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:74732560G>C	hsa-mir-636|MI0003651	-			c.71G>C			SFRS2_uc002jsv.2_Intron|SFRS2_uc002jsw.1_5'Flank|SFRS2_uc002jsx.1_Intron|SFRS2_uc002jsy.3_Intron|SFRS2_uc010wtg.1_Intron|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank																	0						CGGGCGGGACGAGCAAGCACA	0.527													19	104	---	---	---	---	PASS
CCDC40	55036	broad.mit.edu	37	17	78023868	78023868	+	Silent	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:78023868G>T	uc010dht.2	+	7	972	c.945G>T	c.(943-945)GTG>GTT	p.V315V	CCDC40_uc010wub.1_Silent_p.V315V|CCDC40_uc002jxm.3_Silent_p.V98V	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	315	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCAGGTTGTGGCTACCAAGC	0.597													18	67	---	---	---	---	PASS
ASPSCR1	79058	broad.mit.edu	37	17	79974979	79974979	+	Silent	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr17:79974979G>A	uc002kcx.2	+	15	1735	c.1638G>A	c.(1636-1638)CTG>CTA	p.L546L	ASPSCR1_uc002kcw.1_Silent_p.L546L|ASPSCR1_uc002kcy.2_Silent_p.L640L|ASPSCR1_uc002kcz.2_Silent_p.L440L|ASPSCR1_uc002kda.2_Silent_p.L494L	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	546							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCAAGTGGCTGAAGCTGCCGG	0.721			T	TFE3	alveolar soft part sarcoma								20	12	---	---	---	---	PASS
GRP	2922	broad.mit.edu	37	18	56892922	56892922	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr18:56892922C>A	uc002lhv.2	+	2	436	c.338C>A	c.(337-339)TCA>TAA	p.S113*	GRP_uc002lhu.2_Nonsense_Mutation_p.S113*|GRP_uc002lhw.2_Nonsense_Mutation_p.S113*	NM_002091	NP_002082	P07492	GRP_HUMAN	gastrin-releasing peptide isoform 1	113					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity				0		Colorectal(73;0.0946)				TCGTGGGATTCAGAGGATAGC	0.498													75	50	---	---	---	---	PASS
SERPINB4	6318	broad.mit.edu	37	18	61306559	61306559	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr18:61306559C>A	uc002ljf.2	-	7	714	c.628G>T	c.(628-630)GTA>TTA	p.V210L	SERPINB4_uc002lje.2_Intron|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	210					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						ATCATCTGTACAGATTTGTAT	0.358													14	12	---	---	---	---	PASS
RTTN	25914	broad.mit.edu	37	18	67741202	67741202	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr18:67741202C>A	uc002lkp.2	-	34	4661	c.4593G>T	c.(4591-4593)AGG>AGT	p.R1531S	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.R619S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1531							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				TAGATGGAGCCCTCCAAAACT	0.408													19	14	---	---	---	---	PASS
MUC16	94025	broad.mit.edu	37	19	9083436	9083436	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:9083436C>A	uc002mkp.2	-	1	8583	c.8379G>T	c.(8377-8379)CAG>CAT	p.Q2793H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2793	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TAGCCATACCCTGGCTTCCTG	0.493													17	5	---	---	---	---	PASS
BRD4	23476	broad.mit.edu	37	19	15350263	15350263	+	Silent	SNP	T	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:15350263T>G	uc002nar.2	-	17	3738	c.3516A>C	c.(3514-3516)CCA>CCC	p.P1172P		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	1172					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CAGGGGCCCCTGGTGGCGGTG	0.627			T	NUT|C15orf55	lethal midline carcinoma of young people								7	75	---	---	---	---	PASS
UNC13A	23025	broad.mit.edu	37	19	17743602	17743602	+	Silent	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:17743602A>T	uc002nhd.2	-	28	3681	c.3681T>A	c.(3679-3681)CCT>CCA	p.P1227P		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	1139	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						CAGGGTACTCAGGCACGCGGT	0.463													53	19	---	---	---	---	PASS
NCAN	1463	broad.mit.edu	37	19	19330015	19330015	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:19330015A>T	uc002nlz.2	+	3	464	c.365A>T	c.(364-366)AAC>ATC	p.N122I		NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	122	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CGCCGAGCCAACGCCACGCTA	0.647													15	7	---	---	---	---	PASS
ANKRD27	84079	broad.mit.edu	37	19	33098591	33098591	+	Missense_Mutation	SNP	C	A	A	rs148333561	by1000genomes	TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:33098591C>A	uc002ntn.1	-	23	2479	c.2323G>T	c.(2323-2325)GCA>TCA	p.A775S		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	775					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					GCTTGGTCTGCGTTCCTGGCA	0.692													23	27	---	---	---	---	PASS
WDR62	284403	broad.mit.edu	37	19	36546012	36546012	+	Nonsense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:36546012C>T	uc002odc.2	+	1	230	c.139C>T	c.(139-141)CGA>TGA	p.R47*	WDR62_uc002odd.2_Nonsense_Mutation_p.R47*|THAP8_uc010xtb.1_5'Flank|THAP8_uc002oda.1_5'Flank|THAP8_uc010xtc.1_5'Flank|WDR62_uc010eer.2_Nonsense_Mutation_p.R47*|WDR62_uc002odb.2_Nonsense_Mutation_p.R47*	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	47					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCGGCGGACGCGACTCTCGAC	0.682													9	9	---	---	---	---	PASS
RYR1	6261	broad.mit.edu	37	19	39002961	39002961	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:39002961G>A	uc002oit.2	+	63	9440	c.9310G>A	c.(9310-9312)GAG>AAG	p.E3104K	RYR1_uc002oiu.2_Missense_Mutation_p.E3104K|RYR1_uc002oiv.1_Missense_Mutation_p.E24K|RYR1_uc010xuf.1_Missense_Mutation_p.E24K	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3104	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGGACATCGAGAAGATGGT	0.617													42	47	---	---	---	---	PASS
ACTN4	81	broad.mit.edu	37	19	39215195	39215195	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:39215195C>A	uc002oja.1	+	16	2059	c.2000C>A	c.(1999-2001)ACC>AAC	p.T667N	ACTN4_uc002ojb.1_5'Flank	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	667	Spectrin 4.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGATCCAGACCAAGATGGAG	0.657													37	89	---	---	---	---	PASS
IRGC	56269	broad.mit.edu	37	19	44223367	44223367	+	Silent	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:44223367G>T	uc002oxh.2	+	2	804	c.657G>T	c.(655-657)TCG>TCT	p.S219S		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	219						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				CCAACCTCTCGCCGGCCCGCT	0.701													43	55	---	---	---	---	PASS
PPP1R13L	10848	broad.mit.edu	37	19	45899647	45899647	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:45899647C>T	uc002pbn.2	-	5	837	c.760G>A	c.(760-762)GAC>AAC	p.D254N	PPP1R13L_uc002pbo.2_Missense_Mutation_p.D254N|PPP1R13L_uc002pbp.2_Missense_Mutation_p.D254N	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	254	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ACGTCCAGGTCAGACTCGTTC	0.657													26	113	---	---	---	---	PASS
PTGIR	5739	broad.mit.edu	37	19	47126730	47126730	+	Silent	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:47126730G>A	uc002pex.2	-	2	866	c.753C>T	c.(751-753)TGC>TGT	p.C251C		NM_000960	NP_000951	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	251	Helical; Name=6; (Potential).				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GAGGCAGGGAGCACACGGCCA	0.507													5	7	---	---	---	---	PASS
CCDC9	26093	broad.mit.edu	37	19	47773852	47773852	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:47773852G>C	uc010xym.1	+	10	1199	c.992G>C	c.(991-993)GGG>GCG	p.G331A		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	331											0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTACTTTTGGGGAGTTCCTG	0.652													77	88	---	---	---	---	PASS
MEIS3	56917	broad.mit.edu	37	19	47912484	47912484	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:47912484C>G	uc002pgu.2	-	8	1177	c.730G>C	c.(730-732)GTG>CTG	p.V244L	MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Missense_Mutation_p.V43L|MEIS3_uc002pgp.2_Missense_Mutation_p.V76L|MEIS3_uc002pgq.2_Missense_Mutation_p.V325L|MEIS3_uc002pgr.2_Missense_Mutation_p.V112L|MEIS3_uc002pgt.2_Missense_Mutation_p.V227L|MEIS3_uc002pgv.2_Missense_Mutation_p.V227L|MEIS3_uc002pgs.2_Missense_Mutation_p.V244L|MEIS3_uc010eld.2_Missense_Mutation_p.V244L	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Meis1, myeloid ecotropic viral integration site	244	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GGAGAGGCCACGCTGGTGTCC	0.597													27	30	---	---	---	---	PASS
TPRX1	284355	broad.mit.edu	37	19	48306229	48306229	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:48306229G>T	uc002php.1	-	2	110	c.39C>A	c.(37-39)TTC>TTA	p.F13L		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox	13	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GGCGATTCTTGAACCACACCT	0.706													3	5	---	---	---	---	PASS
LHB	3972	broad.mit.edu	37	19	49519409	49519409	+	Silent	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:49519409G>A	uc002plt.2	-	3	351	c.342C>T	c.(340-342)CGC>CGT	p.R114R		NM_000894	NP_000885	P01229	LSHB_HUMAN	luteinizing hormone beta subunit precursor	114					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	AGGTGCTGCGGCGGCAGGGTC	0.657													38	126	---	---	---	---	PASS
LHB	3972	broad.mit.edu	37	19	49519410	49519410	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:49519410C>T	uc002plt.2	-	3	350	c.341G>A	c.(340-342)CGC>CAC	p.R114H		NM_000894	NP_000885	P01229	LSHB_HUMAN	luteinizing hormone beta subunit precursor	114					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	GGTGCTGCGGCGGCAGGGTCC	0.657													39	124	---	---	---	---	PASS
CCDC155	147872	broad.mit.edu	37	19	49916242	49916242	+	Silent	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:49916242G>A	uc002pnm.1	+	16	1461	c.1287G>A	c.(1285-1287)GAG>GAA	p.E429E	CCDC155_uc010emx.1_Silent_p.E400E	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	429						integral to membrane	calcium ion binding			ovary(1)|central_nervous_system(1)	2						TCCAGGGAGAGCCAGCGCACC	0.522													6	70	---	---	---	---	PASS
PRKCG	5582	broad.mit.edu	37	19	54385852	54385852	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:54385852G>A	uc002qcq.1	+	1	386	c.104G>A	c.(103-105)AGC>AAC	p.S35N	PRKCG_uc010eqz.1_Missense_Mutation_p.S35N|PRKCG_uc010yef.1_Missense_Mutation_p.S35N|PRKCG_uc010yeg.1_Missense_Mutation_p.S35N|PRKCG_uc010yeh.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	35	Phorbol-ester/DAG-type 1.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GAAGTCAAGAGCCACAAGTTC	0.647													37	132	---	---	---	---	PASS
LENG8	114823	broad.mit.edu	37	19	54967990	54967990	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:54967990G>A	uc002qfv.1	+	10	1654	c.1510G>A	c.(1510-1512)GCT>ACT	p.A504T	LENG8_uc002qfw.2_Missense_Mutation_p.A541T			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	504							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GAGCAGTGGGGCTGACCCTGA	0.682													15	19	---	---	---	---	PASS
CDC42EP5	148170	broad.mit.edu	37	19	54976300	54976300	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:54976300G>C	uc002qfz.1	-	3	785	c.432C>G	c.(430-432)GAC>GAG	p.D144E	LENG9_uc010yez.1_5'Flank	NM_145057	NP_659494	Q6NZY7	BORG3_HUMAN	CDC42 effector protein 5	144					positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|membrane	GTP-Rho binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.138)		GGCCGATGACGTCGTTCAGCT	0.711													5	9	---	---	---	---	PASS
TNNT1	7138	broad.mit.edu	37	19	55645563	55645563	+	Silent	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:55645563A>G	uc002qjb.3	-	12	710	c.621T>C	c.(619-621)TCT>TCC	p.S207S	TNNT1_uc002qiz.3_Intron|TNNT1_uc002qja.3_Intron|TNNT1_uc002qjc.3_Intron|TNNT1_uc002qje.3_Intron|TNNT1_uc002qjd.3_Intron	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	207					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GCAGCCAGGCAGACCGGGCCC	0.453													9	1	---	---	---	---	PASS
U2AF2	11338	broad.mit.edu	37	19	56180949	56180949	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:56180949A>T	uc002qlu.2	+	11	2239	c.1184A>T	c.(1183-1185)TAT>TTT	p.Y395F	U2AF2_uc002qlt.2_Missense_Mutation_p.Y391F	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	395	RRM 3.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GACGAGGAGTATGAGGAGATC	0.642													31	44	---	---	---	---	PASS
NLRP8	126205	broad.mit.edu	37	19	56485171	56485171	+	Nonsense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:56485171T>A	uc002qmh.2	+	7	2759	c.2688T>A	c.(2686-2688)TGT>TGA	p.C896*	NLRP8_uc010etg.2_Nonsense_Mutation_p.C877*	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	896						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCTGAGATGTCCTCTGCAGA	0.463													21	109	---	---	---	---	PASS
PEG3	5178	broad.mit.edu	37	19	57328279	57328279	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:57328279C>A	uc002qnu.2	-	7	1882	c.1531G>T	c.(1531-1533)GGA>TGA	p.G511*	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.G482*|PEG3_uc002qnv.2_Nonsense_Mutation_p.G511*|PEG3_uc002qnw.2_Nonsense_Mutation_p.G387*|PEG3_uc002qnx.2_Nonsense_Mutation_p.G385*|PEG3_uc010etr.2_Nonsense_Mutation_p.G511*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	511	C2H2-type 2.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGGTCTCTCCACAGTCCTTA	0.448													79	133	---	---	---	---	PASS
ZNF8	7554	broad.mit.edu	37	19	58806422	58806422	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:58806422G>C	uc002qry.1	+	4	1378	c.1248G>C	c.(1246-1248)CAG>CAC	p.Q416H	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	416	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CCCAGCACCAGCGGAAGCACG	0.607													10	184	---	---	---	---	PASS
PDYN	5173	broad.mit.edu	37	20	1961097	1961097	+	Missense_Mutation	SNP	G	A	A	rs150455107		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:1961097G>A	uc010gaj.2	-	3	879	c.637C>T	c.(637-639)CGC>TGC	p.R213C	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R213C|PDYN_uc010zpt.1_Missense_Mutation_p.R58C	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	213					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						GGACGAATGCGCCGCAAGAAG	0.597													24	176	---	---	---	---	PASS
PLCB1	23236	broad.mit.edu	37	20	8698470	8698470	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:8698470G>T	uc002wnb.2	+	14	1491	c.1488G>T	c.(1486-1488)ATG>ATT	p.M496I	PLCB1_uc010zrb.1_Missense_Mutation_p.M395I|PLCB1_uc002wna.2_Missense_Mutation_p.M496I|PLCB1_uc002wnc.1_Missense_Mutation_p.M395I|PLCB1_uc002wnd.1_Missense_Mutation_p.M73I	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	496					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CCTCCAGCATGTTCGAGCCCT	0.468													34	31	---	---	---	---	PASS
PAX1	5075	broad.mit.edu	37	20	21695303	21695303	+	Silent	SNP	A	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:21695303A>C	uc002wsj.2	+	5	1521	c.1467A>C	c.(1465-1467)GGA>GGC	p.G489G	PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	489					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						GGATCGGAGGACTCGCGGAGG	0.746													16	20	---	---	---	---	PASS
EPB41L1	2036	broad.mit.edu	37	20	34797717	34797717	+	Missense_Mutation	SNP	G	T	T	rs140677677	by1000genomes	TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:34797717G>T	uc002xfb.2	+	15	2147	c.1976G>T	c.(1975-1977)CGG>CTG	p.R659L	EPB41L1_uc002xeu.2_Missense_Mutation_p.R585L|EPB41L1_uc010zvo.1_Missense_Mutation_p.R659L|EPB41L1_uc002xev.2_Missense_Mutation_p.R659L|EPB41L1_uc002xew.2_Missense_Mutation_p.R550L|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.R585L|EPB41L1_uc010gfq.2_Missense_Mutation_p.R758L	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	659					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					CTGTTCTCCCGGGATCTCAAC	0.637													40	60	---	---	---	---	PASS
KCNG1	3755	broad.mit.edu	37	20	49620725	49620725	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:49620725G>A	uc002xwa.3	-	3	1688	c.1393C>T	c.(1393-1395)CGC>TGC	p.R465C		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	465	Cytoplasmic (Potential).			R -> P (in Ref. 1; AAC05635).		voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						AGGTAGGAGCGGGAGAAGGTG	0.622													58	99	---	---	---	---	PASS
BCAS1	8537	broad.mit.edu	37	20	52569971	52569971	+	Silent	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:52569971C>A	uc002xws.2	-	11	2018	c.1680G>T	c.(1678-1680)CTG>CTT	p.L560L	BCAS1_uc010zza.1_Silent_p.L226L|BCAS1_uc010zzb.1_Silent_p.L486L|BCAS1_uc010gim.2_Silent_p.L416L|BCAS1_uc002xwt.2_Silent_p.L546L|BCAS1_uc010gil.1_Silent_p.L482L	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	560						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ATCCACCTACCAGGCCTTTAA	0.517													51	44	---	---	---	---	PASS
LAMA5	3911	broad.mit.edu	37	20	60889444	60889444	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:60889444A>T	uc002ycq.2	-	62	8487	c.8420T>A	c.(8419-8421)GTG>GAG	p.V2807E		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2807	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTGATACACCCAGTGCAC	0.632													125	61	---	---	---	---	PASS
C20orf151	140893	broad.mit.edu	37	20	60988599	60988599	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:60988599G>C	uc002ycw.1	-	11	1690	c.1533C>G	c.(1531-1533)GAC>GAG	p.D511E		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	hypothetical protein LOC140893	511	Pro-rich.										0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			GGCGTGAGGGGTCCTGGGGGG	0.627													23	82	---	---	---	---	PASS
COL9A3	1299	broad.mit.edu	37	20	61467648	61467648	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:61467648C>A	uc002ydm.2	+	28	1514	c.1511C>A	c.(1510-1512)CCG>CAG	p.P504Q	COL9A3_uc002ydn.2_5'Flank	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	504	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					CAGGGCGTCCCGGGTGTTCCT	0.657													88	74	---	---	---	---	PASS
PRIC285	85441	broad.mit.edu	37	20	62198285	62198285	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr20:62198285T>A	uc002yfm.2	-	7	3318	c.2426A>T	c.(2425-2427)GAG>GTG	p.E809V	PRIC285_uc002yfl.1_Missense_Mutation_p.E240V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	809					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CTGCACCTTCTCGACGACCTG	0.667													57	75	---	---	---	---	PASS
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472274	+	Missense_Mutation	SNP	G	T	T	rs149217788	byFrequency	TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr21:45472274G>T	uc002zea.2	+	4	568	c.399G>T	c.(397-399)AAG>AAT	p.K133N	TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.K133N	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	133					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						ATGATGCCAAGAAAAAAAACA	0.358													72	15	---	---	---	---	PASS
PI4KA	5297	broad.mit.edu	37	22	21062353	21062353	+	Silent	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:21062353C>T	uc002zsz.3	-	55	6348	c.6117G>A	c.(6115-6117)CAG>CAA	p.Q2039Q	PI4KA_uc010gsp.2_Silent_p.Q430Q|PI4KA_uc002zsy.3_Silent_p.Q849Q	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	2039					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGATGTCATTCTGATAGTACT	0.602													19	933	---	---	---	---	PASS
SLC7A4	6545	broad.mit.edu	37	22	21384302	21384302	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:21384302G>T	uc002zud.2	-	3	1389	c.1321C>A	c.(1321-1323)CAC>AAC	p.H441N	SLC7A4_uc002zue.2_Missense_Mutation_p.H441N	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	441					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCTGTAGGTGGTCTGAGAAG	0.647													17	184	---	---	---	---	PASS
LOC96610	96610	broad.mit.edu	37	22	23165763	23165763	+	RNA	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:23165763T>C	uc011aim.1	+	287		c.13325T>C								Parts of antibodies, mostly variable regions.												0						CTGCAGCTCATATGCAGGCAG	0.532													110	36	---	---	---	---	PASS
MTMR3	8897	broad.mit.edu	37	22	30416323	30416323	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:30416323G>A	uc003agv.3	+	17	3003	c.2675G>A	c.(2674-2676)AGG>AAG	p.R892K	MTMR3_uc003agu.3_Missense_Mutation_p.R892K|MTMR3_uc003agw.3_Missense_Mutation_p.R892K	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	892					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTGGTCGAGAGGCCCCAAGTG	0.562													52	18	---	---	---	---	PASS
RFPL3	10738	broad.mit.edu	37	22	32756521	32756521	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:32756521G>A	uc003amj.2	+	2	861	c.656G>A	c.(655-657)AGT>AAT	p.S219N	RFPL3_uc010gwn.2_Missense_Mutation_p.S190N|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN	ret finger protein-like 3 isoform 1	219	B30.2/SPRY.						zinc ion binding			ovary(1)	1						TGGACTGTGAGTTTGAGGGAT	0.537													70	7	---	---	---	---	PASS
MPST	4357	broad.mit.edu	37	22	37425399	37425399	+	Silent	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:37425399C>A	uc003aqj.2	+	4	1150	c.738C>A	c.(736-738)GCC>GCA	p.A246A	MPST_uc003aqi.1_3'UTR|MPST_uc003aqm.2_Silent_p.A246A|MPST_uc011amu.1_Silent_p.A266A|MPST_uc003aql.2_Silent_p.A246A|MPST_uc003aqn.2_3'UTR|MPST_uc003aqo.2_3'UTR	NM_001130517	NP_001123989	P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase isoform 2	246	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity				0						CACTGGTGGCCACGTGTGGCT	0.617													31	4	---	---	---	---	PASS
SCUBE1	80274	broad.mit.edu	37	22	43604080	43604080	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr22:43604080T>C	uc003bdt.1	-	20	2820	c.2732A>G	c.(2731-2733)GAT>GGT	p.D911G		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	911					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	p.D911N(1)		central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GATCTTACCATCGTAGGTGAC	0.338													25	145	---	---	---	---	PASS
CSF2RA	1438	broad.mit.edu	37	X	1409238	1409238	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:1409238G>A	uc010nct.2	+	8	804	c.482G>A	c.(481-483)AGG>AAG	p.R161K	CSF2RA_uc011mhb.1_Missense_Mutation_p.R161K|CSF2RA_uc004cpq.2_Missense_Mutation_p.R161K|CSF2RA_uc004cpn.2_Missense_Mutation_p.R161K|CSF2RA_uc004cpo.2_Missense_Mutation_p.R161K|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.R28K|CSF2RA_uc004cpp.2_Missense_Mutation_p.R161K|CSF2RA_uc010ncv.2_Missense_Mutation_p.R161K|CSF2RA_uc004cpr.2_Missense_Mutation_p.R161K	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	161	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGGAGAAGGAGGGAGATCCGG	0.259													29	61	---	---	---	---	PASS
P2RY8	286530	broad.mit.edu	37	X	1585160	1585160	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:1585160C>A	uc004cpz.2	-	2	540	c.292G>T	c.(292-294)GTG>TTG	p.V98L		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	98	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGGTCACCACGTTGCAAAGC	0.572			T	CRLF2	B-ALL|Downs associated ALL								20	10	---	---	---	---	PASS
STS	412	broad.mit.edu	37	X	7177575	7177575	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:7177575G>A	uc004cry.3	+	5	828	c.583G>A	c.(583-585)GTC>ATC	p.V195I		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	195	Helical.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GATCGTCGGGGTCACCCTCCT	0.562									Ichthyosis				4	67	---	---	---	---	PASS
ARHGAP6	395	broad.mit.edu	37	X	11682385	11682385	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:11682385G>T	uc004cup.1	-	1	1437	c.564C>A	c.(562-564)CAC>CAA	p.H188Q	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.H188Q	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	188					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						CGACGTAGGGGTGCCCGCGAC	0.637													30	5	---	---	---	---	PASS
TXLNG	55787	broad.mit.edu	37	X	16836853	16836853	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:16836853G>C	uc004cxq.1	+	2	310	c.259G>C	c.(259-261)GAC>CAC	p.D87H	TXLNG_uc010ney.1_Intron	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	87					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						TGAAGGCAGTGACTTTATAAC	0.438													67	2	---	---	---	---	PASS
XIST	7503	broad.mit.edu	37	X	73066592	73066592	+	RNA	SNP	C	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:73066592C>A	uc004ebm.1	-	1		c.5997G>T				NR_001564				Homo sapiens cDNA: FLJ21545 fis, clone COL06195.												0						AGAAATGGGGCCTTAGGTGTC	0.453													12	3	---	---	---	---	PASS
PCDH11X	27328	broad.mit.edu	37	X	91132465	91132465	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:91132465G>T	uc004efk.1	+	2	2071	c.1226G>T	c.(1225-1227)AGG>ATG	p.R409M	PCDH11X_uc004efl.1_Missense_Mutation_p.R409M|PCDH11X_uc004efo.1_Missense_Mutation_p.R409M|PCDH11X_uc010nmv.1_Missense_Mutation_p.R409M|PCDH11X_uc004efm.1_Missense_Mutation_p.R409M|PCDH11X_uc004efn.1_Missense_Mutation_p.R409M|PCDH11X_uc004efh.1_Missense_Mutation_p.R409M|PCDH11X_uc004efj.1_Missense_Mutation_p.R409M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	409	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TTCAGATTAAGGCCAGTATTC	0.438													27	11	---	---	---	---	PASS
GPR112	139378	broad.mit.edu	37	X	135429119	135429119	+	Missense_Mutation	SNP	T	G	G	rs142623843		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:135429119T>G	uc004ezu.1	+	6	3545	c.3254T>G	c.(3253-3255)ATT>AGT	p.I1085S	GPR112_uc010nsb.1_Missense_Mutation_p.I880S|GPR112_uc010nsc.1_Missense_Mutation_p.I852S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1085	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GGAGACTTGATTCGTACCACT	0.458													4	207	---	---	---	---	PASS
ARHGEF6	9459	broad.mit.edu	37	X	135825761	135825761	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:135825761C>T	uc004fab.2	-	5	1106	c.644G>A	c.(643-645)CGT>CAT	p.R215H	ARHGEF6_uc011mwd.1_Missense_Mutation_p.R61H|ARHGEF6_uc011mwe.1_Missense_Mutation_p.R61H	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	215	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					TTTAATTTCACGGACATAATT	0.388													64	11	---	---	---	---	PASS
MIR890	100126303	broad.mit.edu	37	X	145075811	145075811	+	RNA	SNP	G	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:145075811G>A	hsa-mir-890|MI0005533	-			c.59G>A																				0						ACTCTACTCAGAAAGGGAATA	0.483													51	3	---	---	---	---	PASS
ZNF185	7739	broad.mit.edu	37	X	152087616	152087616	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:152087616A>G	uc010ntv.1	+	7	558	c.521A>G	c.(520-522)CAG>CGG	p.Q174R	ZNF185_uc011myg.1_Missense_Mutation_p.Q174R|ZNF185_uc011myh.1_Missense_Mutation_p.Q174R|ZNF185_uc011myi.1_Missense_Mutation_p.Q174R|ZNF185_uc011myj.1_Missense_Mutation_p.Q174R|ZNF185_uc011myk.1_Missense_Mutation_p.Q174R|ZNF185_uc004fgw.3_Missense_Mutation_p.Q39R|ZNF185_uc004fgu.2_5'UTR|ZNF185_uc004fgv.2_5'Flank	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	174						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGATGAACAGAAACGGAGG	0.493													29	1	---	---	---	---	PASS
FLNA	2316	broad.mit.edu	37	X	153578190	153578190	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chrX:153578190C>T	uc004fkk.2	-	46	7628	c.7379G>A	c.(7378-7380)GGT>GAT	p.G2460D	FLNA_uc004fki.2_Missense_Mutation_p.G500D|FLNA_uc011mzn.1_Missense_Mutation_p.G593D|FLNA_uc010nuu.1_Missense_Mutation_p.G2452D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	2460	Filamin 23.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGACAGGGCACCAGCTCCCGC	0.642											OREG0003592	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	39	---	---	---	---	PASS
ARID1A	8289	broad.mit.edu	37	1	27094376	27094376	+	Frame_Shift_Del	DEL	G	-	-	rs147183988		TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr1:27094376delG	uc001bmv.1	+	11	3457	c.3084delG	c.(3082-3084)CTGfs	p.L1028fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.L1028fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.L1028fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.L645fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1028	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCGTTATCTGGCCTTCACTG	0.502			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								20	99	---	---	---	---	
EN1	2019	broad.mit.edu	37	2	119604502	119604502	+	Frame_Shift_Del	DEL	G	-	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr2:119604502delG	uc002tlm.2	-	1	1258	c.242delC	c.(241-243)CCGfs	p.P81fs		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	81					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						CTGAggcggcgggggcggggg	0.363													12	23	---	---	---	---	
ACCN5	51802	broad.mit.edu	37	4	156784654	156784657	+	Frame_Shift_Del	DEL	ACCT	-	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr4:156784654_156784657delACCT	uc003ipe.1	-	2	337_340	c.290_293delAGGT	c.(289-294)GAGGTTfs	p.E97fs		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	97_98	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)		CACATATTGAACCTCAATGGACGT	0.392													17	13	---	---	---	---	
HIST1H2BG	8339	broad.mit.edu	37	6	26216792	26216795	+	Frame_Shift_Del	DEL	CCAT	-	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr6:26216792_26216795delCCAT	uc003ngz.2	-	1	78_81	c.77_80delATGG	c.(76-81)GATGGCfs	p.D26fs	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003509	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	26_27					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				GCGCTTCTTGCCATCCTTCTTCTG	0.520													194	94	---	---	---	---	
FAM135B	51059	broad.mit.edu	37	8	139164259	139164259	+	Frame_Shift_Del	DEL	C	-	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr8:139164259delC	uc003yuy.2	-	13	2630	c.2459delG	c.(2458-2460)GGAfs	p.G820fs	FAM135B_uc003yux.2_Frame_Shift_Del_p.G721fs|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Frame_Shift_Del_p.G382fs|FAM135B_uc003yvb.2_Frame_Shift_Del_p.G382fs	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	820										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCATCTGTTCCAGAGTCACC	0.517										HNSCC(54;0.14)			79	43	---	---	---	---	
NOTCH1	4851	broad.mit.edu	37	9	139402411	139402424	+	Frame_Shift_Del	DEL	CAGGAGTAGCCGCC	-	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr9:139402411_139402424delCAGGAGTAGCCGCC	uc004chz.2	-	21	3493_3506	c.3493_3506delGGCGGCTACTCCTG	c.(3493-3507)GGCGGCTACTCCTGCfs	p.G1165fs	NOTCH1_uc004cia.1_Frame_Shift_Del_p.G395fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1165_1169	Extracellular (Potential).|EGF-like 30.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCCACCTTGCAGGAGTAGCCGCCCAGGTAGTCC	0.664			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			31	20	---	---	---	---	
LRRIQ1	84125	broad.mit.edu	37	12	85449549	85449549	+	Frame_Shift_Del	DEL	A	-	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr12:85449549delA	uc001tac.2	+	8	1089	c.978delA	c.(976-978)GCAfs	p.A326fs	LRRIQ1_uc001tab.1_Frame_Shift_Del_p.A326fs|LRRIQ1_uc001taa.1_Frame_Shift_Del_p.A301fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	326	Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		aaaaggaagcaaaaatacgac	0.085													4	2	---	---	---	---	
PCCA	5095	broad.mit.edu	37	13	100741426	100741439	+	Frame_Shift_Del	DEL	GGGCGGTGGCCGCC	-	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr13:100741426_100741439delGGGCGGTGGCCGCC	uc001voo.2	+	1	90_103	c.52_65delGGGCGGTGGCCGCC	c.(52-66)GGGCGGTGGCCGCCGfs	p.G18fs	PCCA_uc010aga.2_Frame_Shift_Del_p.G18fs|PCCA_uc010tiz.1_Frame_Shift_Del_p.G18fs	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	18_22					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CGGACGGCGTGGGCGGTGGCCGCCGCAGCAGCTG	0.720													6	3	---	---	---	---	
ATP4A	495	broad.mit.edu	37	19	36050805	36050806	+	Frame_Shift_Ins	INS	-	A	A			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:36050805_36050806insA	uc002oal.1	-	7	986_987	c.957_958insT	c.(955-960)ATTGTGfs	p.I319fs	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	319_320	Lumenal (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CACATGGCCACAATAAAAAATG	0.559													61	45	---	---	---	---	
GRLF1	2909	broad.mit.edu	37	19	47503775	47503775	+	Frame_Shift_Del	DEL	C	-	-			TCGA-66-2793-01A-01D-1267-08	TCGA-66-2793-11A-01D-1267-08									Somatic	Phase_I	Capture				Illumina GAIIx	7dc5f8ba-0080-43d3-8426-bd527a970761	04580e16-1552-442c-ace6-7557146f72b2	g.chr19:47503775delC	uc010ekv.2	+	6	4330	c.4330delC	c.(4330-4332)CCCfs	p.P1444fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	1444	Pro-rich.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		CATCACCGAGCCCCCCGGCGC	0.632													123	91	---	---	---	---