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	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	dataset	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	context_orig	context65	categ	categ_ignoring_null_categ	gene_idx	pat_idx
YOD1	55432	broad.mit.edu	37	1	207224090	207224090	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:207224090C>T	uc001hfe.1	-	1	333	c.286G>A	c.(286-288)GAG>AAG	p.E96K	PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.E52K	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	YOD1 OTU deubiquinating enzyme 1 homolog	96	UBX-like.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1	Prostate(682;0.19)					TCCAGGCACTCGGGAGGGTAT	0.632											OREG0014189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	104	---	---	---	---	capture	Missense_Mutation	SNP	207224090	207224090	YOD1	1	C	T	T	T	1	0	0	0	0	1	0	0	0	403	31	1	1	17369	215
SLC35F3	148641	broad.mit.edu	37	1	234455909	234455909	+	Missense_Mutation	SNP	G	A	A	rs149597390		TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:234455909G>A	uc001hwa.1	+	6	1234	c.1006G>A	c.(1006-1008)GTC>ATC	p.V336I	SLC35F3_uc001hvy.1_Missense_Mutation_p.V405I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	336	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCTTGGAATCGTCCTCAGCAT	0.294													103	127	---	---	---	---	capture	Missense_Mutation	SNP	234455909	234455909	SLC35F3	1	G	A	A	A	1	0	0	0	0	1	0	0	0	520	40	1	1	14482	215
OR2W5	441932	broad.mit.edu	37	1	247654793	247654793	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:247654793C>T	uc001icz.1	+	1	364	c.364C>T	c.(364-366)CGC>TGC	p.R122C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCCATGACCGCTATGTGGC	0.587													54	102	---	---	---	---	capture	Missense_Mutation	SNP	247654793	247654793	OR2W5	1	C	T	T	T	1	0	0	0	0	1	0	0	0	299	23	1	1	10938	215
FAM13C	220965	broad.mit.edu	37	10	61029825	61029825	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr10:61029825C>T	uc001jkn.2	-	8	771	c.637G>A	c.(637-639)GCA>ACA	p.A213T	FAM13C_uc001jko.2_Missense_Mutation_p.A213T|FAM13C_uc010qid.1_Missense_Mutation_p.A130T|FAM13C_uc010qie.1_Missense_Mutation_p.A130T|FAM13C_uc010qif.1_Missense_Mutation_p.A235T|FAM13C_uc001jkp.2_Missense_Mutation_p.A130T	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	213										ovary(2)	2						TCTTCTGGTGCACTGTCGGCC	0.532													37	77	---	---	---	---	capture	Missense_Mutation	SNP	61029825	61029825	FAM13C	10	C	T	T	T	1	0	0	0	0	1	0	0	0	325	25	2	2	5408	215
RTKN2	219790	broad.mit.edu	37	10	63957685	63957685	+	Missense_Mutation	SNP	C	G	G			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr10:63957685C>G	uc001jlw.2	-	12	1909	c.1812G>C	c.(1810-1812)TGG>TGC	p.W604C	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.2_Missense_Mutation_p.W258C	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	604					signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTGCCTGCAGCCATGATCTAG	0.378													45	80	---	---	---	---	capture	Missense_Mutation	SNP	63957685	63957685	RTKN2	10	C	G	G	G	1	0	0	0	0	1	0	0	0	338	26	4	4	13615	215
OR51A2	401667	broad.mit.edu	37	11	4976153	4976153	+	Missense_Mutation	SNP	C	T	T	rs61744535		TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr11:4976153C>T	uc010qyt.1	-	1	791	c.791G>A	c.(790-792)CGC>CAC	p.R264H		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCGGCAAAGCGGTGGACAAC	0.453													92	155	---	---	---	---	capture	Missense_Mutation	SNP	4976153	4976153	OR51A2	11	C	T	T	T	1	0	0	0	0	1	0	0	0	351	27	1	1	10990	215
OR4C12	283093	broad.mit.edu	37	11	50003720	50003720	+	Silent	SNP	A	G	G			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr11:50003720A>G	uc010ria.1	-	1	318	c.318T>C	c.(316-318)GGT>GGC	p.G106G		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						TCTCAGTAGCACCAAAAATGT	0.453													131	226	---	---	---	---	capture	Silent	SNP	50003720	50003720	OR4C12	11	A	G	G	G	1	0	0	0	0	0	0	0	1	67	6	3	3	10950	215
CARD16	114769	broad.mit.edu	37	11	104912141	104912141	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr11:104912141G>A	uc001pip.1	-	3	607	c.580C>T	c.(580-582)CAT>TAT	p.H194Y	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN	caspase-1 dominant-negative inhibitor pseudo-ICE	194					regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			skin(1)	1						GATAATTTATGAGTTCCAGTT	0.398													47	74	---	---	---	---	capture	Missense_Mutation	SNP	104912141	104912141	CARD16	11	G	A	A	A	1	0	0	0	0	1	0	0	0	585	45	2	2	2623	215
SLC38A1	81539	broad.mit.edu	37	12	46594890	46594890	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr12:46594890T>C	uc001rpa.2	-	13	1252	c.994A>G	c.(994-996)ACA>GCA	p.T332A	SLC38A1_uc001rpb.2_Missense_Mutation_p.T332A|SLC38A1_uc001rpc.2_Missense_Mutation_p.T332A|SLC38A1_uc001rpd.2_Missense_Mutation_p.T332A|SLC38A1_uc001rpe.2_Missense_Mutation_p.T332A|SLC38A1_uc010slh.1_Missense_Mutation_p.T305A|SLC38A1_uc009zkj.1_Missense_Mutation_p.T332A	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	332	Helical; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|skin(2)|central_nervous_system(1)	5	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCATAGAATGTCAAGTAGCCA	0.294													34	57	---	---	---	---	capture	Missense_Mutation	SNP	46594890	46594890	SLC38A1	12	T	C	C	C	1	0	0	0	0	1	0	0	0	754	58	3	3	14493	215
TRPC4	7223	broad.mit.edu	37	13	38266163	38266163	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr13:38266163C>T	uc001uws.2	-	4	1442	c.1207G>A	c.(1207-1209)GAG>AAG	p.E403K	TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.E403K|TRPC4_uc010tey.1_Missense_Mutation_p.E403K|TRPC4_uc010abw.2_Missense_Mutation_p.E230K|TRPC4_uc010abx.2_Missense_Mutation_p.E403K|TRPC4_uc010aby.2_Missense_Mutation_p.E403K	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	403	Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCATCCACTCGACGATGGTT	0.438													54	79	---	---	---	---	capture	Missense_Mutation	SNP	38266163	38266163	TRPC4	13	C	T	T	T	1	0	0	0	0	1	0	0	0	403	31	1	1	16463	215
DACH1	1602	broad.mit.edu	37	13	72053352	72053352	+	Nonsense_Mutation	SNP	C	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr13:72053352C>A	uc010thn.1	-	9	2242	c.1819G>T	c.(1819-1821)GAA>TAA	p.E607*	DACH1_uc010tho.1_Nonsense_Mutation_p.E459*|DACH1_uc010thp.1_Nonsense_Mutation_p.E405*	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	659	DACHbox-C.|Potential.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCCCTTAGTTCTCTTTCCCTT	0.363													84	136	---	---	---	---	capture	Nonsense_Mutation	SNP	72053352	72053352	DACH1	13	C	A	A	A	1	0	0	0	0	0	1	0	0	416	32	5	4	4180	215
ACAN	176	broad.mit.edu	37	15	89400787	89400787	+	Silent	SNP	A	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr15:89400787A>T	uc010upo.1	+	12	5345	c.4971A>T	c.(4969-4971)CCA>CCT	p.P1657P	ACAN_uc010upp.1_Silent_p.P1657P|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1657					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGATTCCCAACTGTTTCCC	0.537													142	194	---	---	---	---	capture	Silent	SNP	89400787	89400787	ACAN	15	A	T	T	T	1	0	0	0	0	0	0	0	1	54	5	4	4	117	215
DPEP1	1800	broad.mit.edu	37	16	89703308	89703308	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr16:89703308G>A	uc010cin.2	+	6	759	c.556G>A	c.(556-558)GAG>AAG	p.E186K	DPEP1_uc002fnr.3_Missense_Mutation_p.E186K|DPEP1_uc002fns.3_Missense_Mutation_p.E186K	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	186					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGGAGACAGCGAGCCCCAGAG	0.632													58	20	---	---	---	---	capture	Missense_Mutation	SNP	89703308	89703308	DPEP1	16	G	A	A	A	1	0	0	0	0	1	0	0	0	481	37	1	1	4668	215
PIK3R5	23533	broad.mit.edu	37	17	8792501	8792501	+	Missense_Mutation	SNP	G	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:8792501G>T	uc002glt.2	-	9	917	c.850C>A	c.(850-852)CCT>ACT	p.P284T	PIK3R5_uc010vuz.1_Missense_Mutation_p.P284T|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.S232S|PIK3R5_uc010cob.1_5'UTR	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	284				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						CTGGCGACAGGGATGGGGATG	0.483													4	77	---	---	---	---	capture	Missense_Mutation	SNP	8792501	8792501	PIK3R5	17	G	T	T	T	1	0	0	0	0	1	0	0	0	559	43	4	4	11825	215
DBF4B	80174	broad.mit.edu	37	17	42828248	42828248	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:42828248G>A	uc002ihf.2	+	14	1688	c.1475G>A	c.(1474-1476)GGC>GAC	p.G492D	DBF4B_uc010wjc.1_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	492					cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)				CCTGTTAAGGGCCCACTCCTC	0.592													89	118	---	---	---	---	capture	Missense_Mutation	SNP	42828248	42828248	DBF4B	17	G	A	A	A	1	0	0	0	0	1	0	0	0	546	42	2	2	4208	215
RGS9	8787	broad.mit.edu	37	17	63206625	63206625	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:63206625C>T	uc002jfe.2	+	17	1419	c.1309C>T	c.(1309-1311)CGG>TGG	p.R437W	RGS9_uc010dem.2_Missense_Mutation_p.R434W|RGS9_uc002jfd.2_Missense_Mutation_p.R434W|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R208W	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	437					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						CCCTTTTATGCGGCGTCACCT	0.572													8	254	---	---	---	---	capture	Missense_Mutation	SNP	63206625	63206625	RGS9	17	C	T	T	T	1	0	0	0	0	1	0	0	0	347	27	1	1	13205	215
ABCA5	23461	broad.mit.edu	37	17	67264191	67264191	+	Missense_Mutation	SNP	T	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:67264191T>A	uc002jif.2	-	22	4255	c.3037A>T	c.(3037-3039)ACT>TCT	p.T1013S	ABCA5_uc002jib.2_5'UTR|ABCA5_uc002jic.2_Missense_Mutation_p.T236S|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.T1013S	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1013					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					ACTATATCAGTAATTTCCTGA	0.274													41	45	---	---	---	---	capture	Missense_Mutation	SNP	67264191	67264191	ABCA5	17	T	A	A	A	1	0	0	0	0	1	0	0	0	741	57	4	4	35	215
TNRC6C	57690	broad.mit.edu	37	17	76083173	76083173	+	Silent	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:76083173C>T	uc002jud.2	+	14	4401	c.3801C>T	c.(3799-3801)CTC>CTT	p.L1267L	TNRC6C_uc002juf.2_Silent_p.L1264L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1267					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTTACCCTCTCGGTGAGTGTC	0.572													71	75	---	---	---	---	capture	Silent	SNP	76083173	76083173	TNRC6C	17	C	T	T	T	1	0	0	0	0	0	0	0	1	392	31	1	1	16225	215
ZNF554	115196	broad.mit.edu	37	19	2834236	2834236	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:2834236C>T	uc002lwm.2	+	5	1201	c.1003C>T	c.(1003-1005)CGG>TGG	p.R335W	ZNF554_uc002lwl.2_Missense_Mutation_p.R284W	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	335	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGTTCAACCGGAGGCATTC	0.532													89	111	---	---	---	---	capture	Missense_Mutation	SNP	2834236	2834236	ZNF554	19	C	T	T	T	1	0	0	0	0	1	0	0	0	295	23	1	1	17864	215
LDLR	3949	broad.mit.edu	37	19	11222312	11222312	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:11222312G>A	uc002mqk.3	+	8	1351	c.1183G>A	c.(1183-1185)GTG>ATG	p.V395M	LDLR_uc010xlk.1_Missense_Mutation_p.V395M|LDLR_uc010xll.1_Missense_Mutation_p.V354M|LDLR_uc010xlm.1_Missense_Mutation_p.V248M|LDLR_uc010xln.1_Missense_Mutation_p.V268M|LDLR_uc010xlo.1_Missense_Mutation_p.V227M	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	395	Extracellular (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CTGCAAGGCTGTGGGTGAGCA	0.632													35	52	---	---	---	---	capture	Missense_Mutation	SNP	11222312	11222312	LDLR	19	G	A	A	A	1	0	0	0	0	1	0	0	0	624	48	2	2	8624	215
RYR1	6261	broad.mit.edu	37	19	39008083	39008083	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:39008083C>T	uc002oit.2	+	66	9900	c.9770C>T	c.(9769-9771)GCC>GTC	p.A3257V	RYR1_uc002oiu.2_Missense_Mutation_p.A3257V|RYR1_uc002oiv.1_Missense_Mutation_p.A177V|RYR1_uc010xuf.1_Missense_Mutation_p.A177V	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3257					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)	GGGGGGCTGGCCGAGTCAGGT	0.657													4	109	---	---	---	---	capture	Missense_Mutation	SNP	39008083	39008083	RYR1	19	C	T	T	T	1	0	0	0	0	1	0	0	0	338	26	2	2	13660	215
ZNF235	9310	broad.mit.edu	37	19	44803797	44803797	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:44803797T>C	uc002oza.3	-	3	207	c.104A>G	c.(103-105)GAT>GGT	p.D35G	ZNF235_uc002oyx.1_RNA|ZNF235_uc010eji.2_Missense_Mutation_p.D35G|ZNF235_uc002ozb.3_Missense_Mutation_p.D35G|ZNF235_uc010xwx.1_5'UTR	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)				CAGCATCACATCTCGGTACAG	0.443													138	198	---	---	---	---	capture	Missense_Mutation	SNP	44803797	44803797	ZNF235	19	T	C	C	C	1	0	0	0	0	1	0	0	0	650	50	3	3	17668	215
FPR2	2358	broad.mit.edu	37	19	52272072	52272072	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:52272072G>A	uc002pxr.2	+	2	206	c.161G>A	c.(160-162)CGG>CAG	p.R54Q	FPR2_uc002pxs.3_Missense_Mutation_p.R54Q|FPR2_uc010epf.2_Missense_Mutation_p.R54Q	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	54	Cytoplasmic (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						GCTGGATTCCGGATGACACGC	0.562													82	129	---	---	---	---	capture	Missense_Mutation	SNP	52272072	52272072	FPR2	19	G	A	A	A	1	0	0	0	0	1	0	0	0	507	39	1	1	5983	215
UBE2M	9040	broad.mit.edu	37	19	59067682	59067682	+	Splice_Site	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:59067682C>T	uc002qtl.3	-	5	1006	c.411_splice	c.e5+1	p.L137_splice	CHMP2A_uc002qti.2_5'Flank|CHMP2A_uc002qtj.2_5'Flank|CHMP2A_uc002qtk.2_5'Flank|LOC100131691_uc002qtm.2_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M						protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTCCTACTCACCAAGAAGAGA	0.552													80	113	---	---	---	---	capture	Splice_Site	SNP	59067682	59067682	UBE2M	19	C	T	T	T	1	0	0	0	0	0	0	1	0	234	18	5	2	16747	215
IL1A	3552	broad.mit.edu	37	2	113532647	113532647	+	Silent	SNP	C	T	T	rs3783588		TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr2:113532647C>T	uc002tig.2	-	7	1773	c.813G>A	c.(811-813)GCG>GCA	p.A271A		NM_000575	NP_000566	P01583	IL1A_HUMAN	interleukin 1, alpha proprotein	271					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			lung(1)	1						TCCAGACCTACGCCTGGTTTT	0.458													34	54	---	---	---	---	capture	Silent	SNP	113532647	113532647	IL1A	2	C	T	T	T	1	0	0	0	0	0	0	0	1	236	19	1	1	7573	215
TTN	7273	broad.mit.edu	37	2	179448473	179448473	+	Silent	SNP	G	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr2:179448473G>A	uc010zfg.1	-	261	57956	c.57732C>T	c.(57730-57732)CAC>CAT	p.H19244H	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.H12939H|TTN_uc010zfi.1_Silent_p.H12872H|TTN_uc010zfj.1_Silent_p.H12747H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20171							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)			GGGGAATCTGGTGAGGTGCAG	0.463													27	32	---	---	---	---	capture	Silent	SNP	179448473	179448473	TTN	2	G	A	A	A	1	0	0	0	0	0	0	0	1	568	44	2	2	16617	215
MATN4	8785	broad.mit.edu	37	20	43927050	43927050	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr20:43927050C>T	uc002xnn.2	-	7	1373	c.1186G>A	c.(1186-1188)GAG>AAG	p.E396K	MATN4_uc002xno.2_Missense_Mutation_p.E355K|MATN4_uc002xnp.2_Missense_Mutation_p.E314K|MATN4_uc010zwr.1_Missense_Mutation_p.E344K|MATN4_uc002xnr.1_Missense_Mutation_p.E396K	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	437	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				AGAGGGAACTCGGTGCGCACG	0.657													35	37	---	---	---	---	capture	Missense_Mutation	SNP	43927050	43927050	MATN4	20	C	T	T	T	1	0	0	0	0	1	0	0	0	403	31	1	1	9249	215
USP25	29761	broad.mit.edu	37	21	17199405	17199405	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr21:17199405C>T	uc002yjy.1	+	14	1793	c.1576C>T	c.(1576-1578)CGG>TGG	p.R526W	USP25_uc011aby.1_Missense_Mutation_p.R526W|USP25_uc002yjz.1_Missense_Mutation_p.R526W|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	526					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TACTCAGTCCCGGATACCTCC	0.473													84	95	---	---	---	---	capture	Missense_Mutation	SNP	17199405	17199405	USP25	21	C	T	T	T	1	0	0	0	0	1	0	0	0	295	23	1	1	16938	215
SON	6651	broad.mit.edu	37	21	34923961	34923961	+	Silent	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr21:34923961C>T	uc002yse.1	+	3	2473	c.2424C>T	c.(2422-2424)ACC>ACT	p.T808T	SON_uc002ysb.1_Silent_p.T808T|SON_uc002ysc.2_Silent_p.T808T|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	808	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						TGTTAGCAACCAGCTCCATGG	0.512													7	444	---	---	---	---	capture	Silent	SNP	34923961	34923961	SON	21	C	T	T	T	1	0	0	0	0	0	0	0	1	262	21	2	2	14818	215
SON	6651	broad.mit.edu	37	21	34923991	34923991	+	Silent	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr21:34923991C>T	uc002yse.1	+	3	2503	c.2454C>T	c.(2452-2454)ACC>ACT	p.T818T	SON_uc002ysb.1_Silent_p.T818T|SON_uc002ysc.2_Silent_p.T818T|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	818	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						TGTTAGCAACCAGCTCCATGG	0.507													6	477	---	---	---	---	capture	Silent	SNP	34923991	34923991	SON	21	C	T	T	T	1	0	0	0	0	0	0	0	1	262	21	2	2	14818	215
XPC	7508	broad.mit.edu	37	3	14197915	14197915	+	Silent	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:14197915C>T	uc011ave.1	-	10	2057	c.1953G>A	c.(1951-1953)CGG>CGA	p.R651R	XPC_uc011avf.1_Silent_p.R458R|XPC_uc011avg.1_Silent_p.R614R	NM_004628	NP_004619	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	651	Minimal sensor domain involved in damage recognition.|DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.				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						TCAGGAGATGCCGCTTCAGGG	0.532			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum				5	230	---	---	---	---	capture	Silent	SNP	14197915	14197915	XPC	3	C	T	T	T	1	0	0	0	0	0	0	0	1	327	26	2	2	17322	215
MINA	84864	broad.mit.edu	37	3	97669652	97669652	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:97669652C>T	uc003drz.1	-	6	1372	c.866G>A	c.(865-867)GGC>GAC	p.G289D	MINA_uc003dry.1_5'Flank|MINA_uc003dsa.1_Missense_Mutation_p.G289D|MINA_uc003dsb.1_Missense_Mutation_p.G289D|MINA_uc003dsc.1_Missense_Mutation_p.G289D|MINA_uc010hpa.1_RNA	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	289					ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						CCGGGGTATGCCGGTCCGTAA	0.532													5	203	---	---	---	---	capture	Missense_Mutation	SNP	97669652	97669652	MINA	3	C	T	T	T	1	0	0	0	0	1	0	0	0	338	26	2	2	9498	215
TMPRSS7	344805	broad.mit.edu	37	3	111769547	111769547	+	Missense_Mutation	SNP	A	G	G			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:111769547A>G	uc010hqb.2	+	7	912	c.742A>G	c.(742-744)ATC>GTC	p.I248V	TMPRSS7_uc011bhr.1_Missense_Mutation_p.I103V	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	374	Extracellular (Potential).|CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2						GGTCAAAGACATCACTGGCTT	0.403													245	351	---	---	---	---	capture	Missense_Mutation	SNP	111769547	111769547	TMPRSS7	3	A	G	G	G	1	0	0	0	0	1	0	0	0	104	8	3	3	16135	215
RPL22L1	200916	broad.mit.edu	37	3	170584263	170584263	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:170584263T>C	uc003fhc.3	-	4	364	c.275A>G	c.(274-276)GAT>GGT	p.D92G	RPL22L1_uc003fhb.3_RNA	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	92					translation	ribosome	structural constituent of ribosome				0	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCGAAGCCAATCACGAAGATT	0.353													14	22	---	---	---	---	capture	Missense_Mutation	SNP	170584263	170584263	RPL22L1	3	T	C	C	C	1	0	0	0	0	1	0	0	0	650	50	3	3	13461	215
HRG	3273	broad.mit.edu	37	3	186390618	186390618	+	Missense_Mutation	SNP	C	T	T	rs140916341		TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:186390618C>T	uc003fqq.2	+	5	624	c.601C>T	c.(601-603)CGG>TGG	p.R201W		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	201	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTCTCTGTGCGGAACTGCCC	0.403													44	59	---	---	---	---	capture	Missense_Mutation	SNP	186390618	186390618	HRG	3	C	T	T	T	1	0	0	0	0	1	0	0	0	347	27	1	1	7279	215
CNOT6L	246175	broad.mit.edu	37	4	78665959	78665959	+	Silent	SNP	G	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr4:78665959G>A	uc011ccd.1	-	7	761	c.630C>T	c.(628-630)TGC>TGT	p.C210C	CNOT6L_uc003hks.2_Silent_p.C210C|CNOT6L_uc003hkt.1_Silent_p.C53C|CNOT6L_uc011cce.1_Intron	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	210					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1						CCCAGGATGGGCAATAGCCAT	0.393													4	55	---	---	---	---	capture	Silent	SNP	78665959	78665959	CNOT6L	4	G	A	A	A	1	0	0	0	0	0	0	0	1	542	42	2	2	3588	215
PLCXD3	345557	broad.mit.edu	37	5	41382448	41382448	+	Nonsense_Mutation	SNP	G	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr5:41382448G>A	uc003jmm.1	-	2	394	c.292C>T	c.(292-294)CGA>TGA	p.R98*		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	98	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						GTGGAAATTCGAAGATCAAAA	0.443													79	90	---	---	---	---	capture	Nonsense_Mutation	SNP	41382448	41382448	PLCXD3	5	G	A	A	A	1	0	0	0	0	0	1	0	0	480	37	5	1	11946	215
ERAP2	64167	broad.mit.edu	37	5	96239220	96239220	+	Silent	SNP	T	C	C	rs115987752	by1000genomes	TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr5:96239220T>C	uc003kmq.2	+	13	2678	c.1968T>C	c.(1966-1968)CCT>CCC	p.P656P	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Silent_p.P656P|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Silent_p.P605P|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	656	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTCTCAGACCTAAGGACAGAG	0.418													3	161	---	---	---	---	capture	Silent	SNP	96239220	96239220	ERAP2	5	T	C	C	C	1	0	0	0	0	0	0	0	1	678	53	3	3	5159	215
OOEP	441161	broad.mit.edu	37	6	74079407	74079407	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr6:74079407G>A	uc003pgu.3	-	1	109	c.109C>T	c.(109-111)CGG>TGG	p.R37W	OOEP_uc003pgv.3_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	oocyte expressed protein homolog	37						cytoplasm					0						CACCAGGGCCGGATGCGAATC	0.622													95	27	---	---	---	---	capture	Missense_Mutation	SNP	74079407	74079407	OOEP	6	G	A	A	A	1	0	0	0	0	1	0	0	0	506	39	1	1	10774	215
UST	10090	broad.mit.edu	37	6	149342488	149342488	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr6:149342488G>A	uc003qmg.2	+	7	1104	c.808G>A	c.(808-810)GCA>ACA	p.A270T		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	270	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		CCTTGAGAGAGCAAAGCTGAA	0.388													3	49	---	---	---	---	capture	Missense_Mutation	SNP	149342488	149342488	UST	6	G	A	A	A	1	0	0	0	0	1	0	0	0	442	34	2	2	16975	215
CALN1	83698	broad.mit.edu	37	7	71571179	71571179	+	Silent	SNP	G	A	A	rs139754746		TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr7:71571179G>A	uc003twa.3	-	3	746	c.219C>T	c.(217-219)AGC>AGT	p.S73S	CALN1_uc003twb.3_Silent_p.S115S|CALN1_uc003twc.3_Silent_p.S73S	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 2	73	EF-hand 2.|Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													26	98	---	---	---	---	capture	Silent	SNP	71571179	71571179	CALN1	7	G	A	A	A	1	0	0	0	0	0	0	0	1	490	38	1	1	2567	215
GNAT3	346562	broad.mit.edu	37	7	80103615	80103615	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr7:80103615G>A	uc011kgu.1	-	5	542	c.542C>T	c.(541-543)ACG>ATG	p.T181M	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	181	GTP (By similarity).	Magnesium (By similarity).			detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						GATTCCAGTCGTTTTCACTCG	0.343													14	43	---	---	---	---	capture	Missense_Mutation	SNP	80103615	80103615	GNAT3	7	G	A	A	A	1	0	0	0	0	1	0	0	0	520	40	1	1	6449	215
TRRAP	8295	broad.mit.edu	37	7	98609721	98609721	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr7:98609721C>T	uc003upp.2	+	72	11532	c.11323C>T	c.(11323-11325)CGG>TGG	p.R3775W	TRRAP_uc011kis.1_Missense_Mutation_p.R3746W|TRRAP_uc003upr.2_Missense_Mutation_p.R3481W|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3775	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AACGGTTCTCCGGGACGAGAT	0.547													31	130	---	---	---	---	capture	Missense_Mutation	SNP	98609721	98609721	TRRAP	7	C	T	T	T	1	0	0	0	0	1	0	0	0	295	23	1	1	16484	215
GJC3	349149	broad.mit.edu	37	7	99521178	99521178	+	Missense_Mutation	SNP	C	G	G			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr7:99521178C>G	uc011kjd.1	-	2	830	c.830G>C	c.(829-831)AGA>ACA	p.R277T		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	277	Cytoplasmic (Potential).					connexon complex|integral to membrane				ovary(1)	1	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					tcaggcatctctgggtccaac	0.000													57	160	---	---	---	---	capture	Missense_Mutation	SNP	99521178	99521178	GJC3	7	C	G	G	G	1	0	0	0	0	1	0	0	0	416	32	4	4	6353	215
MUC17	140453	broad.mit.edu	37	7	100684383	100684383	+	Missense_Mutation	SNP	T	C	C			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr7:100684383T>C	uc003uxp.1	+	3	9739	c.9686T>C	c.(9685-9687)GTC>GCC	p.V3229A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3229	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGTACCTGTCAGCAACACG	0.478													26	888	---	---	---	---	capture	Missense_Mutation	SNP	100684383	100684383	MUC17	7	T	C	C	C	1	0	0	0	0	1	0	0	0	754	58	3	3	9884	215
ADAM2	2515	broad.mit.edu	37	8	39678526	39678526	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr8:39678526C>T	uc003xnj.2	-	6	583	c.508G>A	c.(508-510)GTA>ATA	p.V170I	ADAM2_uc003xnk.2_Missense_Mutation_p.V170I|ADAM2_uc011lck.1_Missense_Mutation_p.V170I|ADAM2_uc003xnl.2_Missense_Mutation_p.V170I	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	170				V -> A (in Ref. 2; AAD04206).	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCTACCTCTACGCTTTGTAAT	0.294													88	31	---	---	---	---	capture	Missense_Mutation	SNP	39678526	39678526	ADAM2	8	C	T	T	T	1	0	0	0	0	1	0	0	0	247	19	1	1	241	215
RORB	6096	broad.mit.edu	37	9	77249548	77249548	+	Missense_Mutation	SNP	G	T	T	rs143312543		TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr9:77249548G>T	uc004aji.2	+	3	177	c.128G>T	c.(127-129)GGA>GTA	p.G43V	RORB_uc004ajh.2_Missense_Mutation_p.G32V	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	43	Nuclear receptor.				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G32E(1)		ovary(2)|lung(1)|skin(1)	4						TCCCTCAAGGGATTCTTTAGG	0.413													24	39	---	---	---	---	capture	Missense_Mutation	SNP	77249548	77249548	RORB	9	G	T	T	T	1	0	0	0	0	1	0	0	0	533	41	4	4	13421	215
BICD2	23299	broad.mit.edu	37	9	95481024	95481024	+	Missense_Mutation	SNP	G	A	A			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr9:95481024G>A	uc004aso.1	-	5	1960	c.1903C>T	c.(1903-1905)CGT>TGT	p.R635C	BICD2_uc004asp.1_Missense_Mutation_p.R635C	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	635					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						ATCTGGTCACGGATGATAGCG	0.652													4	150	---	---	---	---	capture	Missense_Mutation	SNP	95481024	95481024	BICD2	9	G	A	A	A	1	0	0	0	0	1	0	0	0	507	39	1	1	1417	215
CYLC2	1539	broad.mit.edu	37	9	105767590	105767590	+	Missense_Mutation	SNP	A	C	C			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr9:105767590A>C	uc004bbs.2	+	5	747	c.677A>C	c.(676-678)AAG>ACG	p.K226T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	226	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|3.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				GATTCAAAGAAGGGCAAGGAT	0.363													42	13	---	---	---	---	capture	Missense_Mutation	SNP	105767590	105767590	CYLC2	9	A	C	C	C	1	0	0	0	0	1	0	0	0	39	3	4	4	4102	215
KIAA2022	340533	broad.mit.edu	37	X	73961437	73961437	+	Missense_Mutation	SNP	C	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:73961437C>T	uc004eby.2	-	3	3572	c.2955G>A	c.(2953-2955)ATG>ATA	p.M985I		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	985					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						GACCATCATCCATATTGACTG	0.448													58	11	---	---	---	---	capture	Missense_Mutation	SNP	73961437	73961437	KIAA2022	23	C	T	T	T	1	0	0	0	0	1	0	0	0	273	21	2	2	8191	215
IRS4	8471	broad.mit.edu	37	X	107977902	107977902	+	Nonsense_Mutation	SNP	G	T	T			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:107977902G>T	uc004eoc.2	-	1	1706	c.1673C>A	c.(1672-1674)TCA>TAA	p.S558*		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	558						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GCCACCACCTGAACCGTGCCC	0.657													194	22	---	---	---	---	capture	Nonsense_Mutation	SNP	107977902	107977902	IRS4	23	G	T	T	T	1	0	0	0	0	0	1	0	0	585	45	5	4	7765	215
TAF3	83860	broad.mit.edu	37	10	8007617	8007625	+	In_Frame_Del	DEL	AGAAGGAGA	-	-			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr10:8007617_8007625delAGAAGGAGA	uc010qbd.1	+	3	2144_2152	c.2144_2152delAGAAGGAGA	c.(2143-2154)GAGAAGGAGAAG>GAG	p.KEK719del		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	719_721	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						aaggaaaaagagaaggagaagaaggagaa	0.115													25	16	---	---	---	---	capture_indel	In_Frame_Del	DEL	8007617	8007625	TAF3	10	AGAAGGAGA	-	-	-	1	0	1	0	1	0	0	0	0	143	11	5	5	15413	215
NEFH	4744	broad.mit.edu	37	22	29886478	29886478	+	Frame_Shift_Del	DEL	C	-	-			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr22:29886478delC	uc003afo.2	+	4	2920	c.2849delC	c.(2848-2850)GCAfs	p.A950fs	NEFH_uc003afp.2_Frame_Shift_Del_p.Q16fs	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	956	Tail.				cell death|nervous system development	neurofilament					0						AAGAAGGAGGCAGCACCGGAG	0.512													47	79	---	---	---	---	capture_indel	Frame_Shift_Del	DEL	29886478	29886478	NEFH	22	C	-	-	-	1	0	1	0	1	0	0	0	0	325	25	5	5	10221	215
GGA1	26088	broad.mit.edu	37	22	38016358	38016366	+	In_Frame_Del	DEL	AAAGAAGCA	-	-			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr22:38016358_38016366delAAAGAAGCA	uc003atc.2	+	5	782_790	c.417_425delAAAGAAGCA	c.(415-426)CTAAAGAAGCAG>CTG	p.KKQ140del	GGA1_uc003atd.2_In_Frame_Del_p.KKQ140del|GGA1_uc003ate.2_In_Frame_Del_p.KKQ140del|GGA1_uc003atf.2_In_Frame_Del_p.KKQ67del	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	140_142	Interaction with ARF3.|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					ACCAGATGCTAAAGAAGCAGGGTGAGGCA	0.617													51	163	---	---	---	---	capture_indel	In_Frame_Del	DEL	38016358	38016366	GGA1	22	AAAGAAGCA	-	-	-	1	0	1	0	1	0	0	0	0	158	13	5	5	6291	215
PSPH	5723	broad.mit.edu	37	7	56087292	56087292	+	Splice_Site	DEL	C	-	-			TCGA-28-5204-01	TCGA-28-5204-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr7:56087292delC	uc003trg.2	-	4	638	c.275_splice	c.e4+1	p.R92_splice	PSPH_uc003trh.2_Splice_Site_p.R92_splice|PSPH_uc003tri.2_Splice_Site_p.R92_splice|PSPH_uc003trj.2_Splice_Site_p.R121_splice	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase						L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTCCTCTTACCTTATGCCGG	0.577													10	265	---	---	---	---	capture_indel	Splice_Site	DEL	56087292	56087292	PSPH	7	C	-	-	-	1	0	1	0	1	0	0	1	0	234	18	5	5	12612	215
