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	pox	qox	isArtifactMode	oxoGCut
C1orf113	79729	broad.mit.edu	37	1	36785434	36785434	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:36785434C>T	uc010oia.1	+	14	1198	c.1170C>T	c.(1168-1170)CTC>CTT	p.L390L	C1orf113_uc010oib.1_Silent_p.L279L|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Silent_p.L36L	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN	SH3 domain-containing protein C1orf113 isoform	274											0		Myeloproliferative disorder(586;0.0393)				AGAAGACCCTCACTCTAGGGG	0.617		NA											12	47					0	0	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580588	53580588	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:53580588G>A	uc001cuy.2	-	3	441	c.273C>T	c.(271-273)CTC>CTT	p.L91L	SLC1A7_uc001cuz.3_Silent_p.L91L|uc001cva.1_RNA	NM_006671	NP_006662	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter),	91						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|large_intestine(1)	3				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	ACGCCACGGTGAGGACGCCCA	0.647		NA											6	19					0	0	0	0
CACHD1	57685	broad.mit.edu	37	1	65142628	65142628	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:65142628A>G	uc001dbo.1	+	22	2978	c.2873A>G	c.(2872-2874)GAC>GGC	p.D958G	CACHD1_uc001dbp.1_Missense_Mutation_p.D713G|CACHD1_uc001dbq.1_Missense_Mutation_p.D713G|CACHD1_uc010opa.1_Missense_Mutation_p.D202G	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	1009	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						ACAGCTATTGACCCTGGCCTG	0.532		NA											14	106					0	0	0	0
FAM73A	374986	broad.mit.edu	37	1	78325024	78325024	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:78325024G>C	uc001dhx.2	+	10	1173	c.1141G>C	c.(1141-1143)GAC>CAC	p.D381H	FAM73A_uc010ork.1_Missense_Mutation_p.D381H|FAM73A_uc010orl.1_Missense_Mutation_p.D343H|FAM73A_uc001dhy.1_3'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	381						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		GTGCCTAGGAGACAGTGATTT	0.383		NA											8	55					0	0	0	0
DNASE2B	58511	broad.mit.edu	37	1	84864283	84864283	+	Silent	SNP	A	A	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:84864283A>T	uc001djt.1	+	1	69	c.36A>T	c.(34-36)ACA>ACT	p.T12T	UOX_uc009wcg.2_5'Flank	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta isoform 1 precursor	12					DNA metabolic process	lysosome	deoxyribonuclease II activity				0				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TGCTAAGAACATCCTTTGCTT	0.463		NA						Direct_reversal_of_damage					10	186					0	0	0	0
SYDE2	84144	broad.mit.edu	37	1	85648848	85648848	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:85648848A>T	uc009wcm.2	-	3	1526	c.1477T>A	c.(1477-1479)TTG>ATG	p.L493M	SYDE2_uc001dku.3_Missense_Mutation_p.L493M	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	493					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATAATTCCCAATTCAGTACTA	0.328		NA											12	81					0	0	0	0
DDAH1	23576	broad.mit.edu	37	1	85790448	85790448	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:85790448G>A	uc001dlb.2	-	5	877	c.716C>T	c.(715-717)CCG>CTG	p.P239L	DDAH1_uc001dlc.2_Missense_Mutation_p.P136L|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.P139L|DDAH1_uc009wco.2_Missense_Mutation_p.P136L	NM_012137	NP_036269	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	239					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding				0				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ATACTCTTCCGGGGTTCGGTG	0.473		NA											11	78					0	0	0	0
PKLR	5313	broad.mit.edu	37	1	155264372	155264372	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:155264372C>T	uc001fkb.3	-	6	905	c.866G>A	c.(865-867)CGG>CAG	p.R289Q	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.R258Q	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	289					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.R289L(1)		skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCTGGCTTTCCGCACAAAGGA	0.627		NA											6	49					0	0	0	0
HMCN1	83872	broad.mit.edu	37	1	186026439	186026439	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:186026439G>A	uc001grq.1	+	46	7447	c.7218G>A	c.(7216-7218)TTG>TTA	p.L2406L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2406	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAGTATCTTTGACTTGTGAAG	0.423		NA											8	58					0	0	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128556	197128556	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:197128556C>T	uc001gtx.1	-	10	2732	c.2663G>A	c.(2662-2664)GGA>GAA	p.G888E	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CAGTAATGTTCCAAGATAAGA	0.373		NA											15	89					0	0	0	0
SOX13	9580	broad.mit.edu	37	1	204085730	204085730	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:204085730G>A	uc001ham.2	+	5	1109	c.514G>A	c.(514-516)GAG>AAG	p.E172K	SOX13_uc001hal.2_Missense_Mutation_p.E172K|SOX13_uc010pqp.1_Missense_Mutation_p.E172K|SOX13_uc010pqq.1_Missense_Mutation_p.E39K	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	172					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCCCACTCGGAGCAGAAGAA	0.597		NA											7	77					0	0	0	0
NFASC	23114	broad.mit.edu	37	1	204943329	204943329	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:204943329G>A	uc001hbj.2	+	13	1630	c.1302G>A	c.(1300-1302)TCG>TCA	p.S434S	NFASC_uc001hbh.2_Silent_p.S434S|NFASC_uc010pqz.1_Silent_p.S428S|NFASC_uc010pra.1_Silent_p.S445S|NFASC_uc001hbi.2_Silent_p.S445S|NFASC_uc009xbg.1_Silent_p.S518S|NFASC_uc010prb.1_Silent_p.S445S|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_Silent_p.S255S	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	434	Extracellular (Potential).|Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGATGCTGTCGCCCCGGAACC	0.552		NA											4	16					0	0	0	0
TTC13	79573	broad.mit.edu	37	1	231057232	231057232	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:231057232C>G	uc001huf.3	-	16	1864	c.1833G>C	c.(1831-1833)ATG>ATC	p.M611I	TTC13_uc009xfi.2_Missense_Mutation_p.M558I|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.M558I|TTC13_uc009xfk.1_Missense_Mutation_p.M501I	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	611							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTAGGTATCTCATGTTGATCA	0.264		NA											3	29					0	0	0	0
OR1C1	26188	broad.mit.edu	37	1	247921358	247921358	+	Silent	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:247921358C>A	uc010pza.1	-	1	351	c.351G>T	c.(349-351)GTG>GTT	p.V117V		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CATACGCCATCACACACAGAA	0.488		NA											6	53					5.94e-07	1.07e-06	1	0
DNAJC1	64215	broad.mit.edu	37	10	22048479	22048479	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:22048479A>C	uc001irc.2	-	11	1503	c.1216T>G	c.(1216-1218)TTG>GTG	p.L406V	DNAJC1_uc001ird.2_Missense_Mutation_p.L292V	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	406	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCATCGGGCAAGGTGGTGGCC	0.587		NA											9	51					0	0	0	0
MYO3A	53904	broad.mit.edu	37	10	26417382	26417382	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:26417382A>C	uc001isn.2	+	20	2537	c.2177A>C	c.(2176-2178)AAA>ACA	p.K726T	MYO3A_uc009xko.1_Missense_Mutation_p.K726T|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	726	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						AATTTCAAAAAAAATTCCTTC	0.338		NA											6	47					0	0	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967812	64967812	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:64967812G>A	uc001jmn.2	-	10	3917	c.3617C>T	c.(3616-3618)GCA>GTA	p.A1206V	JMJD1C_uc001jml.2_Missense_Mutation_p.A987V|JMJD1C_uc001jmm.2_Missense_Mutation_p.A918V|JMJD1C_uc010qiq.1_Missense_Mutation_p.A1024V|JMJD1C_uc009xpi.2_Missense_Mutation_p.A1024V|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.A243V	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1206					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATACTGGTGCTCTATGTAA	0.438		NA											21	99					0	0	0	0
CBARA1	10367	broad.mit.edu	37	10	74322720	74322720	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:74322720T>G	uc001jtb.1	-	3	396	c.263A>C	c.(262-264)AAG>ACG	p.K88T		NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	calcium binding atopy-related autoantigen 1	88					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			ovary(1)	1						ATCTGCAGTCTTTTTCTCATG	0.403		NA											3	24					0	0	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90665380	90665380	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:90665380T>A	uc001kfk.2	+	3	634	c.211T>A	c.(211-213)TTG>ATG	p.L71M	STAMBPL1_uc010qmx.1_Missense_Mutation_p.L71M|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Missense_Mutation_p.L71M|STAMBPL1_uc001kfm.2_5'Flank	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	71							metal ion binding|metallopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGAAGGAAATTTGGAAAATGC	0.338		NA											9	43					0	0	0	0
LIPA	3988	broad.mit.edu	37	10	91005441	91005441	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:91005441G>C	uc001kga.3	-	3	389	c.221C>G	c.(220-222)TCT>TGT	p.S74C	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|LIPA_uc009xtq.2_Missense_Mutation_p.S74C	NM_000235	NP_000226	P38571	LICH_HUMAN	lipase A precursor	74					lipid catabolic process	lysosome	lipase activity|sterol esterase activity				0		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		ACCTTTGTCAGAATGGTTCTT	0.383		NA											11	91					0	0	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917735	97917735	+	Silent	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:97917735T>C	uc001klp.2	+	6	2513	c.1656T>C	c.(1654-1656)TCT>TCC	p.S552S	ZNF518A_uc001klo.1_Silent_p.S22S|ZNF518A_uc001klq.2_Silent_p.S552S|ZNF518A_uc001klr.2_Silent_p.S552S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTGTATCTTCTTTGTCAGCAA	0.338		NA											7	72					0	0	0	0
PDCD11	22984	broad.mit.edu	37	10	105205279	105205279	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:105205279G>A	uc001kwy.1	+	36	5676	c.5589G>A	c.(5587-5589)GAG>GAA	p.E1863E		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1863					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTATGTGGAGGCCAAGAGCT	0.597		NA											7	51					0	0	0	0
CPXM2	119587	broad.mit.edu	37	10	125530458	125530458	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:125530458G>A	uc001lhk.1	-	8	1401	c.1076C>T	c.(1075-1077)TCA>TTA	p.S359L	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	359					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGGGTGATCTGAGATCTCCAC	0.478		NA											38	258					0	0	0	0
GPR123	84435	broad.mit.edu	37	10	134942326	134942326	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:134942326G>A	uc001llx.3	+	7	1430	c.994G>A	c.(994-996)GAC>AAC	p.D332N	GPR123_uc001llw.2_Missense_Mutation_p.D1051N	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	332	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCCGCACTTGACGCCAACGG	0.731		NA											8	37					0	0	0	0
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:534288C>T	uc001lpv.2	-	2	223	c.35G>A	c.(34-36)GGC>GAC	p.G12D	HRAS_uc010qvw.1_Missense_Mutation_p.G12D|HRAS_uc010qvx.1_Missense_Mutation_p.G12D|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	12	GTP.		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(250)|p.G12S(54)|p.G12D(40)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)		urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647	G12V(T24_URINARY_TRACT)|G12D(HS578T_BREAST)	6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			5	40					0	0	0	0
OR51A2	401667	broad.mit.edu	37	11	4976514	4976514	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:4976514C>T	uc010qyt.1	-	1	430	c.430G>A	c.(430-432)GCC>ACC	p.A144T		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A,	144	Helical; Name=4; (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)		CCTATTTGGGCAACTCTGACA	0.423		NA											34	121					0	0	0	0
OR8J3	81168	broad.mit.edu	37	11	55904603	55904603	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:55904603T>C	uc010riz.1	-	1	592	c.592A>G	c.(592-594)ATA>GTA	p.I198V		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					ATAAAGACTATTGTTTCTGGT	0.318		NA											12	81					0	0	0	0
OR8H1	219469	broad.mit.edu	37	11	56058468	56058468	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:56058468T>G	uc010rje.1	-	1	71	c.71A>C	c.(70-72)CAG>CCG	p.Q24P		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	24	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					GAGGGCCATCTGGACCTCTTC	0.423		NA											8	96					0	0	0	0
ATM	472	broad.mit.edu	37	11	108121428	108121428	+	Missense_Mutation	SNP	G	G	C	rs79220522		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:108121428G>C	uc001pkb.1	+	10	1621	c.1236G>C	c.(1234-1236)TGG>TGC	p.W412C	ATM_uc009yxr.1_Missense_Mutation_p.W412C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	412					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			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)		TTTTTTTTAGGCTACAGATTG	0.318		NA	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)			6	32					0	0	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791272	133791272	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:133791272C>T	uc001qgx.3	-	18	2579	c.2348G>A	c.(2347-2349)AGC>AAC	p.S783N		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	783	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)		GCTCTCGGGGCTCACCTTGCC	0.662		NA											3	15					0	0	0	0
DCP1B	196513	broad.mit.edu	37	12	2061959	2061959	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:2061959T>G	uc001qjx.1	-	7	1227	c.1147A>C	c.(1147-1149)AAC>CAC	p.N383H	DCP1B_uc010sdy.1_Missense_Mutation_p.N281H	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	383					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CTGCTGCGGTTCAGGGCAGCT	0.572		NA											19	67					0	0	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4668097	4668097	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:4668097C>T	uc001qmw.2	+	10	1153	c.997C>T	c.(997-999)CGC>TGC	p.R333C	RAD51AP1_uc001qmu.2_Missense_Mutation_p.R316C|RAD51AP1_uc001qmv.2_Missense_Mutation_p.R279C|RAD51AP1_uc010sep.1_Missense_Mutation_p.R214C|RAD51AP1_uc010seq.1_Missense_Mutation_p.R214C|RAD51AP1_uc009zeg.2_RNA	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	333	Interaction with RAD51.			R->A: Strongly decreases interaction with RAD51; when associated with Q-336; A-345 and A-346.	double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCAGAGTCTCCGCCTTGGCTT	0.498		NA											8	89					0	0	0	0
CD163	9332	broad.mit.edu	37	12	7639106	7639106	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:7639106A>C	uc001qsz.3	-	10	2575	c.2447T>G	c.(2446-2448)GTT>GGT	p.V816G	CD163_uc001qta.3_Missense_Mutation_p.V816G|CD163_uc009zfw.2_Missense_Mutation_p.V849G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	816	SRCR 7.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						TGAGCAGATAACTCCCGCATC	0.443		NA											4	130					0	0	0	0
ARID2	196528	broad.mit.edu	37	12	46233280	46233280	+	Splice_Site	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:46233280G>A	uc001ros.1	+	11	1498	c.1498_splice	c.e11+1	p.A500_splice	ARID2_uc001ror.2_Splice_Site_p.A500_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Splice_Site_p.A127_splice|ARID2_uc001rot.1_Missense_Mutation_p.G146D	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTGCCCCAGGTTAGTGTTTT	0.373		NA											14	77					0	0	0	0
ARID2	196528	broad.mit.edu	37	12	46285669	46285669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:46285669C>T	uc001ros.1	+	17	5029	c.5029C>T	c.(5029-5031)CGA>TGA	p.R1677*	ARID2_uc001ror.2_Nonsense_Mutation_p.R1677*|ARID2_uc009zkg.1_Nonsense_Mutation_p.R1133*|ARID2_uc009zkh.1_Nonsense_Mutation_p.R1304*|ARID2_uc001rou.1_Nonsense_Mutation_p.R1011*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1677					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCTTTTCAGCGACAGCGGTT	0.413		NA											9	92					0	0	0	0
POU6F1	5463	broad.mit.edu	37	12	51584078	51584078	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:51584078G>A	uc001rxy.2	-	5	1050	c.858C>T	c.(856-858)CGC>CGT	p.R286R	POU6F1_uc001rxz.2_Silent_p.R286R|POU6F1_uc001rya.2_Silent_p.R286R	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	286	Homeobox.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGAGCGTCTGGCGCCGATTGC	0.552		NA											11	71					0	0	0	0
GALNT6	11226	broad.mit.edu	37	12	51752036	51752036	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:51752036C>A	uc001ryk.2	-	8	1603	c.1378G>T	c.(1378-1380)GGT>TGT	p.G460C	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.G460C|GALNT6_uc001ryj.1_Missense_Mutation_p.G25C	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	460	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						GAAATGTCACCGAAGGATTTC	0.373		NA											10	89					2.81e-09	5.09e-09	1	0
KRT83	3889	broad.mit.edu	37	12	52709762	52709762	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:52709762C>T	uc001saf.2	-	7	1240	c.1177G>A	c.(1177-1179)GAG>AAG	p.E393K		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	393	Rod.|Coil 2.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTGGTACTCCCTGATCAGG	0.647		NA											9	123					0	0	0	0
KCNC2	3747	broad.mit.edu	37	12	75601707	75601707	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:75601707G>A	uc001sxg.1	-	2	601	c.57C>T	c.(55-57)CAC>CAT	p.H19H	KCNC2_uc009zry.2_Silent_p.H19H|KCNC2_uc001sxe.2_Silent_p.H19H|KCNC2_uc001sxf.2_Silent_p.H19H|KCNC2_uc010stw.1_Silent_p.H19H	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	19	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						GGTAGGTTTCGTGCCGGGTGC	0.632		NA											5	65					0	0	0	0
MYBPC1	4604	broad.mit.edu	37	12	102064158	102064158	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:102064158G>A	uc001tii.2	+	23	2665	c.2563G>A	c.(2563-2565)GAA>AAA	p.E855K	MYBPC1_uc001tig.2_Missense_Mutation_p.E862K|MYBPC1_uc010svq.1_Missense_Mutation_p.E824K|MYBPC1_uc001tih.2_Missense_Mutation_p.E862K|MYBPC1_uc001tij.2_Missense_Mutation_p.E837K|MYBPC1_uc010svr.1_Missense_Mutation_p.E837K|MYBPC1_uc010svs.1_Missense_Mutation_p.E855K|MYBPC1_uc010svt.1_Missense_Mutation_p.E825K|MYBPC1_uc010svu.1_Missense_Mutation_p.E818K|MYBPC1_uc001tik.2_Missense_Mutation_p.E811K|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	855	Ig-like C2-type 6.			EAVN -> DRVI (in Ref. 1; CAA46987).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						CAGAGTTGGAGAAGCTGTCAA	0.443		NA											15	129					0	0	0	0
PAH	5053	broad.mit.edu	37	12	103288646	103288646	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:103288646C>T	uc001tjq.1	-	4	691	c.219G>A	c.(217-219)AAG>AAA	p.K73K	PAH_uc010swc.1_Silent_p.K73K	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	73	ACT.				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACTCATCTTTCTTTAAACGAG	0.443		NA											14	57					0	0	0	0
C12orf51	283450	broad.mit.edu	37	12	112690297	112690297	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:112690297C>T	uc009zwc.2	-	16	2235	c.2217G>A	c.(2215-2217)ATG>ATA	p.M739I	C12orf51_uc010syk.1_Missense_Mutation_p.M561I|C12orf51_uc001tts.2_Missense_Mutation_p.M552I|C12orf51_uc001ttt.3_Missense_Mutation_p.M550I	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GGCCACTTCTCATTTCAAAGG	0.438		NA											14	94					0	0	0	0
PARP4	143	broad.mit.edu	37	13	25049615	25049615	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:25049615C>T	uc001upl.2	-	15	2015	c.1909G>A	c.(1909-1911)GCC>ACC	p.A637T	PARP4_uc010tdc.1_Missense_Mutation_p.A637T	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	637	VIT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CATACCTGGGCTACAGTGTCT	0.458		NA											13	69					0	0	0	0
FREM2	341640	broad.mit.edu	37	13	39264178	39264178	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:39264178A>G	uc001uwv.2	+	1	3006	c.2697A>G	c.(2695-2697)CGA>CGG	p.R899R		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	899	CSPG 5.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGGGCCGAGTTTCCTATG	0.512		NA											4	36					0	0	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217120	53217120	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:53217120C>G	uc001vgx.1	+	7	1566	c.493C>G	c.(493-495)CAG>GAG	p.Q165E	HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.Q165E|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.Q165E	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like	165	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding				0						GATTGTCATTCAGAAATACCA	0.468		NA											7	63					0	0	0	0
TBC1D4	9882	broad.mit.edu	37	13	75911119	75911119	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:75911119C>T	uc001vjl.1	-	8	2016	c.1669G>A	c.(1669-1671)GAC>AAC	p.D557N	TBC1D4_uc010aer.2_Missense_Mutation_p.D557N|TBC1D4_uc010aes.2_Missense_Mutation_p.D557N	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	557						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCAGAATGTCAAGTTTGAAC	0.333		NA											8	42					0	0	0	0
OR4K5	79317	broad.mit.edu	37	14	20389087	20389087	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:20389087A>C	uc010tkw.1	+	1	322	c.322A>C	c.(322-324)ACT>CCT	p.T108P		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACCTTTTTACTGGAGGGGA	0.428		NA											18	241					0	0	0	0
OR4L1	122742	broad.mit.edu	37	14	20529070	20529070	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:20529070G>A	uc001vwn.1	+	1	867	c.867G>A	c.(865-867)CTG>CTA	p.L289L		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTATACCCTGAGAAATAAGA	0.328		NA											12	71					0	0	0	0
ADCY4	196883	broad.mit.edu	37	14	24795367	24795367	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:24795367G>A	uc001wov.2	-	12	1579	c.1573C>T	c.(1573-1575)CGT>TGT	p.R525C	ADCY4_uc001wow.2_Missense_Mutation_p.R525C|ADCY4_uc010toh.1_Missense_Mutation_p.R211C|ADCY4_uc001wox.2_Missense_Mutation_p.R525C|ADCY4_uc001woy.2_Missense_Mutation_p.R525C	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	525	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		CGGGGGGTACGGCTCCTGCAC	0.587		NA											8	48					0	0	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36039926	36039926	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:36039926C>G	uc001wti.2	-	38	6266	c.5875G>C	c.(5875-5877)GAT>CAT	p.D1959H	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.D1959H|RALGAPA1_uc010tpv.1_Missense_Mutation_p.D1972H|RALGAPA1_uc010tpw.1_Missense_Mutation_p.D2006H	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1959	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						ATAGCACCATCAAAAAGGGGA	0.363		NA											3	24					0	0	0	0
PAPOLA	10914	broad.mit.edu	37	14	96994296	96994296	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:96994296G>A	uc001yfq.2	+	6	658	c.448G>A	c.(448-450)GAA>AAA	p.E150K	PAPOLA_uc001yfo.2_Missense_Mutation_p.E150K|PAPOLA_uc001yfp.2_Missense_Mutation_p.E150K|PAPOLA_uc001yfr.2_Missense_Mutation_p.E150K|PAPOLA_uc010twv.1_Missense_Mutation_p.E150K|PAPOLA_uc010avp.2_Intron	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	150					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ATAGGCTGTTGAAGAGGCATT	0.353		NA											24	100					0	0	0	0
MTA1	9112	broad.mit.edu	37	14	105916417	105916417	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:105916417G>A	uc001yqx.2	+	5	451	c.264G>A	c.(262-264)GAG>GAA	p.E88E	MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Silent_p.E2E|MTA1_uc001yra.1_Silent_p.E2E	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	88	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AGGAAATGGAGAACCCGGAAA	0.627		NA											10	66					0	0	0	0
MTA1	9112	broad.mit.edu	37	14	105927207	105927207	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:105927207G>C	uc001yqx.2	+	10	1046	c.859G>C	c.(859-861)GAG>CAG	p.E287Q	MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Missense_Mutation_p.E201Q|MTA1_uc001yra.1_Missense_Mutation_p.E201Q|MTA1_uc001yrb.2_Missense_Mutation_p.E48Q	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	287	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CGAGATGGAGGAGTGGTCTGC	0.562		NA											4	118					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24923550	24923550	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:24923550G>A	uc001ywo.2	+	1	3010	c.2536G>A	c.(2536-2538)GAG>AAG	p.E846K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	846					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CAGGAAGGAGGAGTACATCCG	0.502		NA											12	98					0	0	0	0
GABRB3	2562	broad.mit.edu	37	15	26806250	26806250	+	Silent	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:26806250G>C	uc001zaz.2	-	8	1051	c.909C>G	c.(907-909)GTC>GTG	p.V303V	GABRB3_uc010uae.1_Silent_p.V218V|GABRB3_uc001zba.2_Silent_p.V303V|GABRB3_uc001zbb.2_Silent_p.V359V	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	303					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAATGGCTTTGACATAGGGGA	0.478		NA											13	94					0	0	0	0
C15orf52	388115	broad.mit.edu	37	15	40630982	40630982	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:40630982C>T	uc001zlh.3	-	4	502	c.486G>A	c.(484-486)GTG>GTA	p.V162V	C15orf52_uc001zli.1_Silent_p.V94V|C15orf52_uc010ucn.1_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	162										large_intestine(1)	1		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CAGCCAGCTCCACCAGCTCCC	0.607		NA											11	50					0	0	0	0
EXD1	161829	broad.mit.edu	37	15	41476415	41476416	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:41476415_41476416TC>AT	uc001znk.2	-	10	1449_1450	c.1258_1259GA>AT	c.(1258-1260)GAG>ATG	p.E420M	EXD1_uc001znj.2_Missense_Mutation_p.E218M|EXD1_uc010ucv.1_Missense_Mutation_p.E478M	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	420					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						TCTCTGGTCCTCTGACCCCTTT	0.416		NA											21	137					0	0	0	0
NMB	4828	broad.mit.edu	37	15	85201312	85201312	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:85201312G>A	uc002bkz.2	-	1	491	c.72C>T	c.(70-72)GTC>GTT	p.V24V	NMB_uc002bla.2_Silent_p.V24V	NM_021077	NP_066563	P08949	NMB_HUMAN	neuromedin B isoform 1	24					cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity				0				all cancers(203;3.5e-06)		TGAGCGGGGCGACGCCGGCAG	0.622		NA											5	17					0	0	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448552	91448552	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:91448552C>T	uc010bnz.2	+	3	319	c.204C>T	c.(202-204)ATC>ATT	p.I68I	MAN2A2_uc010boa.2_Silent_p.I110I|MAN2A2_uc002bqc.2_Silent_p.I68I|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	68	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGAGATTATCAGCCATATCA	0.552		NA											11	107					0	0	0	0
SPSB3	90864	broad.mit.edu	37	16	1831369	1831369	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:1831369G>A	uc002cmr.2	-	1	149	c.116C>T	c.(115-117)TCT>TTT	p.S39F	NUBP2_uc002cmw.3_5'Flank|NUBP2_uc002cmx.3_5'Flank|NUBP2_uc010brx.2_5'Flank|SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Missense_Mutation_p.S39F|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Missense_Mutation_p.S39F	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	39					intracellular signal transduction						0						CTGCCCATCAGAGTCGTAGCC	0.642		NA											6	59					0	0	0	0
MPV17L	255027	broad.mit.edu	37	16	15501680	15501680	+	Splice_Site	SNP	G	G	A	rs144408494		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:15501680G>A	uc002ddn.2	+	3	526	c.382_splice	c.e3-1	p.S128_splice	MPV17L_uc002ddm.2_Splice_Site_p.E104_splice	NM_001128423	NP_001121895	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like							integral to membrane|peroxisomal membrane					0						CCCAATTCCAGAGTGGACTGA	0.308		NA											6	37					0	0	0	0
ABCC6	368	broad.mit.edu	37	16	16302657	16302657	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:16302657C>T	uc002den.3	-	7	759	c.722G>A	c.(721-723)AGA>AAA	p.R241K	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.R253K	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	241	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGAGTTTTCTCTCCCAAGCGA	0.552		NA											6	58					0	0	0	0
POLR3E	55718	broad.mit.edu	37	16	22320755	22320755	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:22320755G>A	uc002dkk.2	+	6	444	c.288G>A	c.(286-288)CTG>CTA	p.L96L	POLR3E_uc002dkj.1_Silent_p.L96L|POLR3E_uc002dkm.2_Silent_p.L60L|POLR3E_uc010vbr.1_Silent_p.L96L|POLR3E_uc002dkl.2_Silent_p.L96L|POLR3E_uc010vbs.1_Silent_p.L60L|POLR3E_uc010vbt.1_Silent_p.L40L	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	96					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		CCAGGAAGCTGATGGACAAGC	0.617		NA											39	291					0	0	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926538	22926538	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:22926538C>G	uc002dli.2	+	2	831	c.759C>G	c.(757-759)TAC>TAG	p.Y253*	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	253	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		TCGGCATGTACGTGCTGCACC	0.632		NA											13	134					0	0	0	0
SRCAP	10847	broad.mit.edu	37	16	30723672	30723672	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:30723672G>A	uc002dze.1	+	13	2290	c.1905G>A	c.(1903-1905)AAG>AAA	p.K635K	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.K492K|SRCAP_uc010bzz.1_Silent_p.K205K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	635	Helicase ATP-binding.				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)			TGTATGAGAAGAAGCTTAATG	0.532		NA											11	95					0	0	0	0
ORC6L	23594	broad.mit.edu	37	16	46726320	46726320	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:46726320G>C	uc002eeh.2	+	3	282	c.222G>C	c.(220-222)TTG>TTC	p.L74F	ORC6L_uc002eeg.1_Missense_Mutation_p.L74F|ORC6L_uc010cbe.1_Missense_Mutation_p.L25F	NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	origin recognition complex subunit 6	74					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding				0		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTTCTGGTTTGAACAAGGAGA	0.323		NA											11	69					0	0	0	0
NOB1	28987	broad.mit.edu	37	16	69788590	69788590	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:69788590T>C	uc002exs.2	-	2	119	c.103A>G	c.(103-105)ACT>GCT	p.T35A		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	35	PINc.					nucleus	metal ion binding|protein binding				0						CGAATCTCAGTGACCACCTCC	0.632		NA											5	36					0	0	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683624	71683624	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:71683624G>A	uc002fax.2	-	18	3147	c.3141C>T	c.(3139-3141)CTC>CTT	p.L1047L	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Silent_p.L980L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	1047						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CTGGGAGGGTGAGCCCATTCA	0.512		NA											19	153					0	0	0	0
DHX38	9785	broad.mit.edu	37	16	72137934	72137934	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:72137934C>T	uc002fcb.2	+	14	2269	c.1914C>T	c.(1912-1914)CTC>CTT	p.L638L	DHX38_uc010vmp.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	638	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				GAGAGTCCCTCCGGGAAGCCG	0.577		NA											9	87					0	0	0	0
PLCG2	5336	broad.mit.edu	37	16	81929467	81929467	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:81929467G>A	uc002fgt.2	+	13	1280	c.1128G>A	c.(1126-1128)CGG>CGA	p.R376R	PLCG2_uc010chg.1_Silent_p.R376R	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	376	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						GCTGGACGCGGACTACCAAGA	0.557		NA											16	96					0	0	0	0
C17orf85	55421	broad.mit.edu	37	17	3724646	3724646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:3724646C>T	uc010ckl.1	-	9	920	c.897G>A	c.(895-897)TGG>TGA	p.W299*	C17orf85_uc002fwr.2_Nonsense_Mutation_p.W9*|C17orf85_uc002fwq.2_Nonsense_Mutation_p.W19*	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN	ELG protein isoform a	299							nucleotide binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATCTTCGCTTCCTGCAAGAAT	0.363		NA											8	82					0	0	0	0
KIAA0753	9851	broad.mit.edu	37	17	6483153	6483153	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:6483153C>G	uc002gde.3	-	19	3177	c.2818G>C	c.(2818-2820)GGT>CGT	p.G940R	KIAA0753_uc010vtd.1_Missense_Mutation_p.G396R|KIAA0753_uc010clo.2_Missense_Mutation_p.G641R|KIAA0753_uc010vte.1_Missense_Mutation_p.G641R	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	940						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		GCCACAGCACCCAGAGCTTCA	0.378		NA											10	95					0	0	0	0
DNAH2	146754	broad.mit.edu	37	17	7695575	7695575	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:7695575G>A	uc002giu.1	+	45	7073	c.7059G>A	c.(7057-7059)ACG>ACA	p.T2353T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2353					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTAGGACACGGTATATGAGT	0.532		NA											10	98					0	0	0	0
NCOR1	9611	broad.mit.edu	37	17	16005052	16005052	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:16005052G>A	uc002gpo.2	-	20	2442	c.2202C>T	c.(2200-2202)AGC>AGT	p.S734S	NCOR1_uc002gpn.2_Silent_p.S750S|NCOR1_uc002gpp.1_Silent_p.S641S|NCOR1_uc002gpr.2_Silent_p.S641S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	734					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACTGTCCTCGCTGGGCTTGA	0.463		NA											13	67					0	0	0	0
FAM83G	644815	broad.mit.edu	37	17	18874772	18874772	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:18874772G>A	uc002guw.2	-	6	2539	c.2372C>T	c.(2371-2373)TCT>TTT	p.S791F	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	791										ovary(1)|central_nervous_system(1)	2						CTTCGACTGAGACAGTTTGGA	0.632		NA											24	153					0	0	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:26961608A>G	uc002hbu.2	-	16	3096	c.2997T>C	c.(2995-2997)CCT>CCC	p.P999P		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	999						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493		NA											3	131					0	0	0	0
KRT27	342574	broad.mit.edu	37	17	38933275	38933275	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:38933275C>G	uc002hvg.2	-	8	1397	c.1356G>C	c.(1354-1356)AAG>AAC	p.K452N		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	452	Tail.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				TCTGTTCATTCTTGTTGTTGA	0.433		NA											14	55					0	0	0	0
AKAP1	8165	broad.mit.edu	37	17	55183032	55183032	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:55183032C>T	uc002iux.2	+	2	438	c.207C>T	c.(205-207)TCC>TCT	p.S69S	AKAP1_uc010wnl.1_Silent_p.S69S|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Silent_p.S69S	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	69					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					AAGTAGTGTCCACACCCCCCA	0.602		NA											10	45					0	0	0	0
AXIN2	8313	broad.mit.edu	37	17	63533163	63533163	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:63533163G>A	uc002jfi.2	-	7	2020	c.1731C>T	c.(1729-1731)ACC>ACT	p.T577T	AXIN2_uc002jfh.2_Intron	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	577				Missing (in Ref. 2; AAF22799).	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						GTTTGGGCAAGGTACTGCCTC	0.652		NA							Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				5	19					0	0	0	0
GALR2	8811	broad.mit.edu	37	17	74071008	74071008	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:74071008C>T	uc002jqm.1	+	1	125	c.44C>T	c.(43-45)GCG>GTG	p.A15V	SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	15	Extracellular (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						GCGAGCCAGGCGGGCGGCGGG	0.741		NA											3	7					0	0	0	0
DNAH17	8632	broad.mit.edu	37	17	76539977	76539977	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:76539977C>T	uc002jvv.1	-	13	1706	c.1600G>A	c.(1600-1602)GTC>ATC	p.V534I						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCATCCCTGACTGCTGCGTAG	0.498		NA											28	196					0	0	0	0
CCDC40	55036	broad.mit.edu	37	17	78023899	78023899	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:78023899G>A	uc010dht.2	+	7	1003	c.976G>A	c.(976-978)GAG>AAG	p.E326K	CCDC40_uc010wub.1_Missense_Mutation_p.E326K|CCDC40_uc002jxm.3_Missense_Mutation_p.E109K	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	326					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)			CCAGCGGCAGGAGCTGGGGGT	0.622		NA											5	36					0	0	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226904	79226904	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:79226904C>T	uc002jzz.1	-	12	1800	c.1425G>A	c.(1423-1425)CCG>CCA	p.P475P	SLC38A10_uc002jzy.1_Silent_p.P393P|SLC38A10_uc002kab.2_Silent_p.P475P	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	475					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTGCCTCCTCCGGTGCCTCCT	0.682		NA									OREG0024813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	118					0	0	0	0
CETN1	1068	broad.mit.edu	37	18	580651	580651	+	Silent	SNP	G	G	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:580651G>T	uc002kko.1	+	1	285	c.243G>T	c.(241-243)ACG>ACT	p.T81T		NM_004066	NP_004057	Q12798	CETN1_HUMAN	centrin 1	81	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			upper_aerodigestive_tract(1)|ovary(1)	2						GGGAAGGCACGGGGAAGATCA	0.537		NA											5	52					3.6e-05	6.37e-05	1	0
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:3188908T>C	uc002klp.2	-	4	943	c.609A>G	c.(607-609)ACA>ACG	p.T203T	MYOM1_uc002klq.2_Silent_p.T203T	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	203	4.|6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GCTTGGATGCTGTGGACTGCT	0.532		NA											4	95					0	0	0	0
KCTD1	284252	broad.mit.edu	37	18	24081097	24081097	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:24081097C>G	uc002kvw.2	-	2	663	c.103G>C	c.(103-105)GAT>CAT	p.D35H	KCTD1_uc010xbj.1_Missense_Mutation_p.D643H|KCTD1_uc010xbk.1_Missense_Mutation_p.D35H	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	35	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCGCCCACATCAATGTGGACA	0.507		NA											6	109					0	0	0	0
DSG1	1828	broad.mit.edu	37	18	28914090	28914090	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:28914090C>G	uc002kwp.2	+	8	1142	c.930C>G	c.(928-930)ATC>ATG	p.I310M		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	310	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTTTCTTTATCTCTGGAAATG	0.294		NA											9	71					0	0	0	0
CDH20	28316	broad.mit.edu	37	18	59221475	59221475	+	Silent	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:59221475C>A	uc010dps.1	+	11	1965	c.1953C>A	c.(1951-1953)ATC>ATA	p.I651I	CDH20_uc002lif.2_Silent_p.I645I	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	651	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				AACCATACATCATCGACGACG	0.567		NA											12	110					9.05e-12	1.64e-11	1	0
AP3D1	8943	broad.mit.edu	37	19	2121736	2121736	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:2121736C>T	uc002luz.2	-	12	1321	c.1098G>A	c.(1096-1098)GGG>GGA	p.G366G	AP3D1_uc002luy.2_Silent_p.G275G|AP3D1_uc002lva.2_Silent_p.G366G	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	366	HEAT 7.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		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)		CACGCACCATCCCATAGAGCA	0.637		NA											8	57					0	0	0	0
ZNF440	126070	broad.mit.edu	37	19	11943309	11943309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:11943309C>T	uc002msp.1	+	4	1474	c.1318C>T	c.(1318-1320)CAA>TAA	p.Q440*		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	440	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAATAACCTTCAAAGTCATGA	0.398		NA											8	51					0	0	0	0
IL27RA	9466	broad.mit.edu	37	19	14161619	14161619	+	Silent	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:14161619C>A	uc002mxx.2	+	11	1875	c.1452C>A	c.(1450-1452)CCC>CCA	p.P484P		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	484	Extracellular (Potential).|Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						CTTGGGGTCCCTGTGAGCTGT	0.552		NA											4	33					0.000602214	0.00106133	1	0
OR10H4	126541	broad.mit.edu	37	19	16060277	16060277	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:16060277T>G	uc010xov.1	+	1	460	c.460T>G	c.(460-462)TCA>GCA	p.S154A		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						GGCTGGTGGCTCAGTCATGGG	0.512		NA											20	112					0	0	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677063	37677063	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:37677063A>C	uc002ofq.2	-	5	1630	c.1376T>G	c.(1375-1377)ATT>AGT	p.I459S	uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.I273S	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	459	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCTGTGTGAATTCGTTTATG	0.373		NA											13	119					0	0	0	0
LRFN1	57622	broad.mit.edu	37	19	39798886	39798886	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:39798886C>T	uc002okw.2	-	2	1703	c.1703G>A	c.(1702-1704)CGC>CAC	p.R568H		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	568	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTTGACGCGGCGGCTGTCCCC	0.682		NA											6	34					0	0	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001378	52001378	+	Silent	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:52001378C>A	uc002pwx.1	-	5	1355	c.1299G>T	c.(1297-1299)CTG>CTT	p.L433L	SIGLEC12_uc002pww.1_Silent_p.L315L|SIGLEC12_uc010eoy.1_Silent_p.L160L	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	433	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCACTCGAGGCAGCTCCAGCA	0.607		NA											10	56					1.77e-08	3.18e-08	1	0
GREB1	9687	broad.mit.edu	37	2	11758602	11758602	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:11758602G>A	uc002rbk.1	+	22	3901	c.3601G>A	c.(3601-3603)GAC>AAC	p.D1201N	GREB1_uc002rbp.1_Missense_Mutation_p.D199N	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1201	Ser-rich.					integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCCCCAGCCCGACTGTAGCCT	0.692		NA											8	18					0	0	0	0
DNMT3A	1788	broad.mit.edu	37	2	25468900	25468900	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:25468900C>T	uc002rgc.2	-	12	1720	c.1463G>A	c.(1462-1464)CGG>CAG	p.R488Q	DNMT3A_uc002rgd.2_Missense_Mutation_p.R488Q|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.R299Q	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	488	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R488fs?(1)		haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCAATGTTCCGGCACTTCTG	0.602		NA	Mis|F|N|S		AML								10	67					0	0	0	0
CAPN13	92291	broad.mit.edu	37	2	30961324	30961324	+	Splice_Site	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:30961324C>T	uc002rnn.2	-	15	1713	c.1537_splice	c.e15-1	p.R513_splice	CAPN13_uc002rnm.2_Splice_Site	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTCCAGCCTCTGATCCAAAC	0.527		NA											3	16					0	0	0	0
SFRS7	6432	broad.mit.edu	37	2	38976747	38976747	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:38976747C>T	uc002rqz.2	-	3	548	c.310G>A	c.(310-312)GAT>AAT	p.D104N	SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.D104N|GEMIN6_uc002rrb.2_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	splicing factor, arginine/serine-rich 7	104	CCHC-type.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding				0		all_hematologic(82;0.248)				TAGCATCTATCATTTGGATCA	0.463		NA											13	54					0	0	0	0
FBXO11	80204	broad.mit.edu	37	2	48035487	48035487	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:48035487C>G	uc010fbl.2	-	22	2497	c.2383G>C	c.(2383-2385)GAG>CAG	p.E795Q	FBXO11_uc002rwe.2_Missense_Mutation_p.E795Q|FBXO11_uc010fbk.2_Missense_Mutation_p.E303Q	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	879	UBR-type.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTAATAAACTCTACATCATGT	0.353		NA											5	56					0	0	0	0
CCT4	10575	broad.mit.edu	37	2	62099641	62099641	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:62099641C>T	uc002sbo.2	-	11	1357	c.1208G>A	c.(1207-1209)CGC>CAC	p.R403H	CCT4_uc010ypp.1_Missense_Mutation_p.R347H|CCT4_uc010ypq.1_Missense_Mutation_p.R253H|CCT4_uc010ypr.1_Missense_Mutation_p.R347H|CCT4_uc010yps.1_Missense_Mutation_p.R373H	NM_006430	NP_006421	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	403					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			ovary(2)	2	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATGAATGGAGCGCTCAGCTTC	0.358		NA											7	41					0	0	0	0
CIAO1	9391	broad.mit.edu	37	2	96933588	96933588	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:96933588G>A	uc002svs.2	+	4	620	c.415G>A	c.(415-417)GAG>AAG	p.E139K	TMEM127_uc002svq.2_5'Flank|TMEM127_uc002svr.2_5'Flank	NM_004804	NP_004795	O76071	CIAO1_HUMAN	WD repeat domain 39	139	WD 3.				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding				0						TGAAGAGGATGAGTATGAATG	0.537		NA											5	64					0	0	0	0
RGPD3	653489	broad.mit.edu	37	2	107032306	107032306	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:107032306C>T	uc010ywi.1	-	21	5121	c.5064G>A	c.(5062-5064)AAG>AAA	p.K1688K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1688					intracellular transport		binding			ovary(1)	1						CTGATCTCACCTTAATTTGCT	0.438		NA											17	179					0	0	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608430	112608430	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:112608430T>C	uc002thi.2	-	14	1820	c.1573A>G	c.(1573-1575)ATG>GTG	p.M525V		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	525					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						GGCCGAGGCATTGTGTTGGAC	0.438		NA											8	33					0	0	0	0
GLI2	2736	broad.mit.edu	37	2	121748215	121748215	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:121748215C>T	uc010flp.2	+	13	4755	c.4725C>T	c.(4723-4725)CTC>CTT	p.L1575L	GLI2_uc002tmq.1_3'UTR|GLI2_uc002tmr.1_3'UTR|GLI2_uc002tmt.3_Silent_p.L1247L|GLI2_uc002tmu.3_Silent_p.L1230L	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1575					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				TCACCAGCCTCGCCGAGGAGA	0.647		NA											14	104					0	0	0	0
YSK4	80122	broad.mit.edu	37	2	135744823	135744823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:135744823G>A	uc002tue.1	-	7	1650	c.1619C>T	c.(1618-1620)TCA>TTA	p.S540L	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.S427L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.S268L|YSK4_uc002tui.3_Missense_Mutation_p.S557L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	540							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTTGGTCTTTGAATCCAACTT	0.368		NA											9	79					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170050337	170050337	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:170050337C>T	uc002ues.2	-	47	8977	c.8764G>A	c.(8764-8766)GAA>AAA	p.E2922K		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2922	LDL-receptor class A 21.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGATCCATTCGCTTGGGATG	0.458		NA											18	73					0	0	0	0
PLEKHA3	65977	broad.mit.edu	37	2	179360322	179360322	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:179360322G>C	uc002umn.2	+	5	948	c.550G>C	c.(550-552)GAG>CAG	p.E184Q		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	184						cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GTTTAAACCTGAGATGTTTCA	0.428		NA											18	121					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179481235	179481235	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:179481235G>A	uc010zfg.1	-	206	40803	c.40579C>T	c.(40579-40581)CGA>TGA	p.R13527*	TTN_uc010zfh.1_Nonsense_Mutation_p.R7222*|TTN_uc010zfi.1_Nonsense_Mutation_p.R7155*|TTN_uc010zfj.1_Nonsense_Mutation_p.R7030*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14454							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)			CTGACTTCTCGTTTTTCAACA	0.433		NA											38	115					0	0	0	0
STRADB	55437	broad.mit.edu	37	2	202337702	202337702	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:202337702C>T	uc002uyd.3	+	5	583	c.218C>T	c.(217-219)TCT>TTT	p.S73F		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	73	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			skin(2)|stomach(1)|lung(1)	4						AACTTGACTTCTGTCCATCTT	0.308		NA											10	79					0	0	0	0
PTH2R	5746	broad.mit.edu	37	2	209308254	209308254	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:209308254T>C	uc002vdb.2	+	6	904	c.691T>C	c.(691-693)TCA>CCA	p.S231P	PTH2R_uc010zjb.1_Missense_Mutation_p.S242P	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	231	Extracellular (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGTGGACAAATCACAATATGT	0.363		NA											5	50					0	0	0	0
MARCH4	57574	broad.mit.edu	37	2	217124235	217124235	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:217124235G>A	uc002vgb.2	-	4	2800	c.1033C>T	c.(1033-1035)CCC>TCC	p.P345S		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	345						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCCGAGGAGGGGATATTGGCC	0.632		NA											5	29					0	0	0	0
BCS1L	617	broad.mit.edu	37	2	219527683	219527683	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:219527683G>A	uc002vio.2	+	7	1385	c.967G>A	c.(967-969)GAG>AAG	p.E323K	BCS1L_uc002vip.2_Missense_Mutation_p.E323K|BCS1L_uc002viq.2_Missense_Mutation_p.E323K|BCS1L_uc010fvu.2_Missense_Mutation_p.E323K|BCS1L_uc010fvv.2_Missense_Mutation_p.E323K|BCS1L_uc002vir.2_Missense_Mutation_p.E323K|BCS1L_uc002vis.2_Missense_Mutation_p.E323K	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	BCS1-like	323	Mitochondrial matrix (Potential).				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTCCACCGAGGCCCGCAT	0.567		NA											14	100					0	0	0	0
ISM1	140862	broad.mit.edu	37	20	13280034	13280034	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr20:13280034C>T	uc010gce.1	+	6	1329	c.1323C>T	c.(1321-1323)AAC>AAT	p.N441N	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	441	AMOP.					extracellular region					0						CTCCCAACAACGGACAGAAGT	0.577		NA											10	52					0	0	0	0
CHAF1B	8208	broad.mit.edu	37	21	37788639	37788639	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:37788639G>A	uc002yvj.2	+	14	1793	c.1655G>A	c.(1654-1656)GGA>GAA	p.G552E		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	552					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2						GAAAACAAAGGAGGCACGGAA	0.567		NA											4	35					0	0	0	0
SLC37A1	54020	broad.mit.edu	37	21	43974187	43974187	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:43974187G>A	uc002zbi.2	+	11	1196	c.784G>A	c.(784-786)GAG>AAG	p.E262K	SLC37A1_uc002zbj.2_Missense_Mutation_p.E262K	NM_018964	NP_061837	P57057	GLPT_HUMAN	solute carrier family 37 member 1	262					carbohydrate transport|transmembrane transport	integral to membrane					0						AAAAGGCTATGAGAATGGTAC	0.388		NA											4	20					0	0	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970921	45970921	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:45970921G>C	uc002zfi.1	-	1	468	c.421C>G	c.(421-423)CGT>GGT	p.R141G	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	keratin associated protein 10-2	141	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)	1						ACAGGCACACGGCAGGACTGC	0.617		NA											26	154					0	0	0	0
PCBP3	54039	broad.mit.edu	37	21	47360032	47360032	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:47360032C>T	uc002zhq.1	+	13	1123	c.998C>T	c.(997-999)ACG>ATG	p.T333M	PCBP3_uc002zhp.1_Missense_Mutation_p.T313M|PCBP3_uc002zhs.1_Missense_Mutation_p.T307M|PCBP3_uc002zhr.1_Missense_Mutation_p.T332M|PCBP3_uc002zht.1_Missense_Mutation_p.T323M	NM_020528	NP_065389	P57721	PCBP3_HUMAN	poly(rC) binding protein 3 isoform 1	333	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			skin(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GCCAACGCCACGGAAGGGTCC	0.527		NA											5	64					0	0	0	0
OSBP2	23762	broad.mit.edu	37	22	31285493	31285493	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr22:31285493C>T	uc003aiy.1	+	7	1597	c.1493C>T	c.(1492-1494)TCG>TTG	p.S498L	OSBP2_uc011ala.1_Missense_Mutation_p.S332L|OSBP2_uc010gwc.1_Missense_Mutation_p.S325L|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Missense_Mutation_p.S497L|OSBP2_uc003aja.1_Missense_Mutation_p.S131L|OSBP2_uc011alc.1_Missense_Mutation_p.S240L|OSBP2_uc003ajb.2_Missense_Mutation_p.S43L|OSBP2_uc011ald.1_Missense_Mutation_p.S42L|OSBP2_uc010gwd.1_Missense_Mutation_p.S43L	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	498					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						GATGGTGCCTCGCTCGTGCCC	0.577		NA											18	178					0	0	0	0
EP300	2033	broad.mit.edu	37	22	41572250	41572250	+	Splice_Site	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr22:41572250G>A	uc003azl.3	+	30	5175	c.4780_splice	c.e30-1	p.V1594_splice		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						CTGTTTTTCAGGTCTTCTTTG	0.318		NA	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				10	174					0	0	0	0
PNPLA3	80339	broad.mit.edu	37	22	44340652	44340652	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr22:44340652G>A	uc003bei.1	+	8	1367	c.1194G>A	c.(1192-1194)CTG>CTA	p.L398L	PNPLA3_uc010gzm.1_RNA	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	398	Lumenal (Potential).				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)				CTCGAGTGCTGATGTGTCTGC	0.562		NA											15	85					0	0	0	0
GOLGA4	2803	broad.mit.edu	37	3	37388711	37388711	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:37388711C>T	uc003cgv.2	+	21	6804	c.6500C>T	c.(6499-6501)TCA>TTA	p.S2167L	GOLGA4_uc003cgw.2_Missense_Mutation_p.S2182L|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.S2048L	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	2167	Potential.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						ACGGATGTCTCACTCTTTGGA	0.343		NA											6	61					0	0	0	0
XIRP1	165904	broad.mit.edu	37	3	39230363	39230363	+	Silent	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:39230363T>G	uc003cjk.1	-	2	795	c.574A>C	c.(574-576)AGG>CGG	p.R192R	XIRP1_uc003cji.2_Silent_p.R192R|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	192	Xin 4.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAGAGCATCCTGGTACCCTGC	0.632		NA											7	75					0	0	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307506	39307506	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:39307506G>A	uc003cjl.2	-	2	587	c.495C>T	c.(493-495)TTC>TTT	p.F165F		NM_001337	NP_001328	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	165	Helical; Name=4; (Potential).				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			lung(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTGTGAACATGAACTGGGGTG	0.547		NA											13	99					0	0	0	0
ZNF167	55888	broad.mit.edu	37	3	44609918	44609918	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:44609918C>T	uc010hin.2	+	5	1192	c.804C>T	c.(802-804)GCC>GCT	p.A268A	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Silent_p.A268A|ZNF167_uc010hio.2_Silent_p.A118A|ZNF167_uc003cnj.2_Silent_p.A268A|ZNF167_uc003cnk.2_Silent_p.A268A	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	268	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		ATAGCATGGCCTCCTTGGGTA	0.403		NA											8	55					0	0	0	0
ZNF167	55888	broad.mit.edu	37	3	44609921	44609921	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:44609921C>T	uc010hin.2	+	5	1195	c.807C>T	c.(805-807)TCC>TCT	p.S269S	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Silent_p.S269S|ZNF167_uc010hio.2_Silent_p.S119S|ZNF167_uc003cnj.2_Silent_p.S269S|ZNF167_uc003cnk.2_Silent_p.S269S	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	269	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GCATGGCCTCCTTGGGTAATG	0.398		NA											8	54					0	0	0	0
GRM2	2912	broad.mit.edu	37	3	51746802	51746802	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:51746802G>A	uc010hlv.2	+	3	1003	c.764G>A	c.(763-765)CGA>CAA	p.R255Q	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	255	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GGTGTGGTGCGAGCCCTGCTG	0.662		NA											9	53					0	0	0	0
OR5H14	403273	broad.mit.edu	37	3	97868522	97868522	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:97868522A>T	uc003dsg.1	+	1	293	c.293A>T	c.(292-294)AAG>ATG	p.K98M		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCTGAATGCAAGATACAGTTG	0.383		NA											27	186					0	0	0	0
OR5H15	403274	broad.mit.edu	37	3	97887666	97887666	+	Silent	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:97887666G>C	uc011bgu.1	+	1	123	c.123G>C	c.(121-123)GGG>GGC	p.G41G		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CCATCATGGGGAATCTTGGTC	0.408		NA											22	191					0	0	0	0
PVRL3	25945	broad.mit.edu	37	3	110831075	110831075	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:110831075G>A	uc003dxt.1	+	2	359	c.359G>A	c.(358-360)AGA>AAA	p.R120K	PVRL3_uc003dxu.1_Missense_Mutation_p.R97K	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3 precursor	120	Extracellular (Potential).|Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			upper_aerodigestive_tract(2)	2						TATCAGGGAAGAGTCTTGTTT	0.373		NA											7	50					0	0	0	0
CEP63	80254	broad.mit.edu	37	3	134251719	134251719	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:134251719G>A	uc003eqo.1	+	6	867	c.418G>A	c.(418-420)GAG>AAG	p.E140K	CEP63_uc003eql.1_Missense_Mutation_p.E140K|CEP63_uc003eqm.2_Missense_Mutation_p.E140K|CEP63_uc003eqn.1_Missense_Mutation_p.E140K	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	140	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						GTCTGAAATTGAGAGGTTAAC	0.363		NA											9	22					0	0	0	0
SOX14	8403	broad.mit.edu	37	3	137483941	137483941	+	Silent	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:137483941C>G	uc003erm.1	+	1	363	c.315C>G	c.(313-315)CTC>CTG	p.L105L		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	105					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding				0						CGGACCCGCTCAAGGCGGCTG	0.687		NA											7	39					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	42					0	0	0	0
D4S234E	27065	broad.mit.edu	37	4	4419092	4419092	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:4419092C>T	uc011bvz.1	+	8	1769	c.488C>T	c.(487-489)CCC>CTC	p.P163L	D4S234E_uc011bwa.1_Missense_Mutation_p.P124L|D4S234E_uc003ghz.2_Missense_Mutation_p.P163L|D4S234E_uc003gia.2_Missense_Mutation_p.P163L|D4S234E_uc003gib.2_Missense_Mutation_p.P163L	NM_014392	NP_055207	P42857	NSG1_HUMAN	brain neuron cytoplasmic protein 1	163	Lumenal (Potential).				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		TCCGTATCGCCCTGGATGTCA	0.532		NA											8	118					0	0	0	0
SLIT2	9353	broad.mit.edu	37	4	20611715	20611715	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:20611715G>T	uc003gpr.1	+	34	3976	c.3772G>T	c.(3772-3774)GGT>TGT	p.G1258C	SLIT2_uc003gps.1_Missense_Mutation_p.G1250C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1258	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						GTCCGTGGATGGTGGGAACCC	0.433		NA											8	54					0.00307968	0.00537434	1	0
C4orf19	55286	broad.mit.edu	37	4	37592483	37592483	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:37592483C>T	uc003gsw.3	+	4	989	c.806C>T	c.(805-807)TCA>TTA	p.S269L	RELL1_uc003gsz.2_3'UTR|C4orf19_uc003gsy.3_Missense_Mutation_p.S269L	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN	hypothetical protein LOC55286	269											0						GTGGTTGACTCAGGAAACAGG	0.522		NA											10	96					0	0	0	0
FRYL	285527	broad.mit.edu	37	4	48542543	48542543	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:48542543C>T	uc003gyh.1	-	46	6727	c.6122G>A	c.(6121-6123)CGA>CAA	p.R2041Q	FRYL_uc003gyg.1_Missense_Mutation_p.R737Q|FRYL_uc003gyi.1_Missense_Mutation_p.R929Q|FRYL_uc003gyj.1_Missense_Mutation_p.R336Q	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	2041					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						AATCTTCTCTCGACTCTCTGA	0.378		NA											13	49					0	0	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618130	156618130	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:156618130A>G	uc003iov.2	+	4	647	c.111A>G	c.(109-111)TCA>TCG	p.S37S	GUCY1A3_uc003iou.2_Silent_p.S37S|GUCY1A3_uc010iqc.2_Silent_p.S37S|GUCY1A3_uc003iow.2_Silent_p.S37S|GUCY1A3_uc010iqd.2_Silent_p.S37S|GUCY1A3_uc003iox.2_Silent_p.S37S|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Silent_p.S37S|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Silent_p.S37S	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	37					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAGGAAGCTCAGAGAGCTGCA	0.493		NA											6	51					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187628809	187628809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:187628809G>A	uc003izf.2	-	2	2361	c.2173C>T	c.(2173-2175)CAG>TAG	p.Q725*	FAT1_uc010iso.1_Nonsense_Mutation_p.Q725*	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	725	Extracellular (Potential).|Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TCCTTTACCTGAATACCAGTC	0.443		NA								HNSCC(5;0.00058)			9	45					0	0	0	0
AGXT2	64902	broad.mit.edu	37	5	35037140	35037140	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:35037140G>A	uc003jjf.2	-	4	472	c.393C>T	c.(391-393)CTC>CTT	p.L131L	AGXT2_uc011com.1_Silent_p.L131L|AGXT2_uc011con.1_Silent_p.L39L	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	131					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACAGGCGGCCGAGCTGCTTTT	0.532		NA											10	59					0	0	0	0
NUP155	9631	broad.mit.edu	37	5	37327823	37327823	+	Silent	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:37327823A>C	uc003jku.1	-	18	2050	c.1932T>G	c.(1930-1932)ACT>ACG	p.T644T	NUP155_uc003jkt.1_Silent_p.T585T|NUP155_uc010iuz.1_Silent_p.T644T	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	644	Pro-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGTGGCCTGAGTTGCTGGGT	0.413		NA											4	36					0	0	0	0
WDR70	55100	broad.mit.edu	37	5	37605304	37605304	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:37605304G>A	uc003jkv.2	+	10	1114	c.1056G>A	c.(1054-1056)CAG>CAA	p.Q352Q	WDR70_uc010iva.1_Silent_p.Q352Q	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	352	WD 4.									ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCCTGCCAGAATGGAAGCA	0.413		NA											7	34					0	0	0	0
SERINC5	256987	broad.mit.edu	37	5	79473837	79473837	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:79473837C>T	uc003kgj.2	-	3	374	c.245G>A	c.(244-246)TGT>TAT	p.C82Y	SERINC5_uc003kgk.2_Missense_Mutation_p.C82Y|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.C82Y|SERINC5_uc011ctj.1_Missense_Mutation_p.C82Y	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN	developmentally regulated protein TPO1	82	Cytoplasmic (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CAGCTTCTCACAGGTGTCACC	0.398		NA											4	11					0	0	0	0
ERAP2	64167	broad.mit.edu	37	5	96239261	96239261	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:96239261T>C	uc003kmq.2	+	13	2719	c.2009T>C	c.(2008-2010)GTT>GCT	p.V670A	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.V670A|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.V619A|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	670	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)		TTTCAGCTAGTTGGGTAAGGC	0.403		NA											4	38					0	0	0	0
MEGF10	84466	broad.mit.edu	37	5	126784914	126784914	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:126784914G>A	uc003kuh.3	+	23	3342	c.2980G>A	c.(2980-2982)GGT>AGT	p.G994S	MEGF10_uc003kui.3_Missense_Mutation_p.G994S	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	994	Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAACGAGCTCGGTGAGTTCTC	0.532		NA											4	77					0	0	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166069	140166069	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:140166069G>A	uc003lhb.2	+	1	194	c.194G>A	c.(193-195)CGG>CAG	p.R65Q	PCDHA1_uc003lha.2_Missense_Mutation_p.R65Q|PCDHA1_uc003lgz.2_Missense_Mutation_p.R65Q	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	65	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGTTCCGGGTGGCGTCC	0.587		NA											17	105					0	0	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751849	140751849	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:140751849C>T	uc003ljw.1	+	1	1888	c.1888C>T	c.(1888-1890)CGT>TGT	p.R630C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R630C|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	630	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACGGCGCGTACCTTGGG	0.662		NA											11	98					0	0	0	0
GPR151	134391	broad.mit.edu	37	5	145895392	145895392	+	Silent	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:145895392T>C	uc003lod.1	-	1	285	c.285A>G	c.(283-285)CGA>CGG	p.R95R		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	95	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGCCGTAGCTCGGATAGGTG	0.502		NA											11	68					0	0	0	0
NSD1	64324	broad.mit.edu	37	5	176715829	176715829	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:176715829T>G	uc003mfr.3	+	21	6299	c.6161T>G	c.(6160-6162)CTT>CGT	p.L2054R	NSD1_uc003mft.3_Missense_Mutation_p.L1785R|NSD1_uc011dfx.1_Missense_Mutation_p.L1702R	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2054	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCACTGAACTTACCTTCAAC	0.393		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			4	86					0	0	0	0
MAPK9	5601	broad.mit.edu	37	5	179676105	179676105	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:179676105C>G	uc003mls.3	-	6	755	c.484G>C	c.(484-486)GAC>CAC	p.D162H	MAPK9_uc003mlt.3_Missense_Mutation_p.D162H|MAPK9_uc010jlc.2_Missense_Mutation_p.D162H|MAPK9_uc003mlv.3_Missense_Mutation_p.D162H|MAPK9_uc011dgx.1_Missense_Mutation_p.D162H	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	162	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor 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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGTGCAGTCTGATTTCACA	0.463		NA											12	96					0	0	0	0
CAP2	10486	broad.mit.edu	37	6	17551730	17551730	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:17551730G>A	uc003ncb.2	+	12	1488	c.1245G>A	c.(1243-1245)AAG>AAA	p.K415K	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Silent_p.K389K|CAP2_uc011djb.1_Silent_p.K351K|CAP2_uc011djc.1_Silent_p.K303K|CAP2_uc011djd.1_Silent_p.K155K	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	415	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CCATTAATAAGACAGAAGGTT	0.408		NA											10	66					0	0	0	0
NHLRC1	378884	broad.mit.edu	37	6	18121917	18121917	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:18121917C>T	uc003ncl.1	-	1	935	c.921G>A	c.(919-921)GTG>GTA	p.V307V		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	307	NHL 5.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CAAAGGTATCCACTTGGCCGA	0.547		NA											16	61					0	0	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122747	18122747	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:18122747C>G	uc003ncl.1	-	1	105	c.91G>C	c.(91-93)GAG>CAG	p.E31Q		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	31	RING-type.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCAAACTTCTCAAAGCACACC	0.706		NA											7	35					0	0	0	0
KAAG1	353219	broad.mit.edu	37	6	24357946	24357946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:24357946C>T	uc003ndz.1	+	1	816	c.79C>T	c.(79-81)CAG>TAG	p.Q27*	DCDC2_uc003ndx.2_Silent_p.L11L|DCDC2_uc003ndy.2_Silent_p.L11L	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	27					immune response						0						CGGGCTGAGACAGGTGGCTGG	0.687		NA											11	64					0	0	0	0
ZNF323	64288	broad.mit.edu	37	6	28294045	28294045	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:28294045G>C	uc003nla.2	-	4	1519	c.1119C>G	c.(1117-1119)CAC>CAG	p.H373Q	ZNF323_uc003nld.2_Missense_Mutation_p.H373Q|ZNF323_uc010jra.2_Missense_Mutation_p.H373Q|ZNF323_uc003nlb.2_Missense_Mutation_p.H214Q|ZNF323_uc010jrb.2_Missense_Mutation_p.H214Q|ZNF323_uc003nlc.2_Missense_Mutation_p.H373Q	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	373	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TCTCACCAGTGTGGACTCGGA	0.473		NA											25	232					0	0	0	0
HLA-A	3105	broad.mit.edu	37	6	29910405	29910405	+	Splice_Site	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:29910405T>G	uc003nol.2	+	1	73	c.73_splice	c.e1+2	p.G25_splice	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_Splice_Site|HLA-A_uc003nok.2_Splice_Site|HLA-A_uc003non.2_Splice_Site_p.G25_splice|HLA-A_uc003noo.2_Splice_Site_p.G25_splice|HLA-A_uc010jrr.2_Splice_Site_p.G25_splice|HLA-A_uc003nom.2_Splice_Site|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CCTGGGCGGGTGAGTGCGGGG	0.736		NA							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			11	45					0	0	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138238	32138238	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:32138238G>A	uc003oae.2	-	4	792	c.474C>T	c.(472-474)GTC>GTT	p.V158V	PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Silent_p.V122V|AGPAT1_uc003oaf.2_Silent_p.V158V|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Silent_p.V158V|AGPAT1_uc003oai.1_Silent_p.V158V|AGPAT1_uc011dpl.1_Silent_p.V46V	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	158					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1						CCTCAGACATGACACTGATGG	0.592		NA											8	75					0	0	0	0
C6orf125	84300	broad.mit.edu	37	6	33679329	33679329	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:33679329G>A	uc003ofa.1	-	1	176	c.135C>T	c.(133-135)ACC>ACT	p.T45T	C6orf125_uc010jve.1_RNA	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN	hypothetical protein LOC84300	45											0						CGGTCACCTGGGTATTCTCTC	0.687		NA											7	43					0	0	0	0
SUPT3H	8464	broad.mit.edu	37	6	44988309	44988309	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:44988309G>A	uc003oxo.2	-	6	598	c.280C>T	c.(280-282)CTT>TTT	p.L94F	SUPT3H_uc003oxn.1_Missense_Mutation_p.L83F|SUPT3H_uc011dvv.1_5'UTR|SUPT3H_uc003oxp.2_Missense_Mutation_p.L83F|SUPT3H_uc011dvw.1_5'UTR	NM_181356	NP_852001	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog isoform 2	165					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			ovary(2)|breast(1)	3						AAAAACAGAAGATCTTCAGGA	0.328		NA											4	32					0	0	0	0
PHIP	55023	broad.mit.edu	37	6	79668289	79668289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:79668289G>A	uc003pir.2	-	32	3911	c.3685C>T	c.(3685-3687)CGA>TGA	p.R1229*	PHIP_uc003piq.2_Nonsense_Mutation_p.R253*|PHIP_uc011dyp.1_Nonsense_Mutation_p.R1228*|PHIP_uc003pio.3_Nonsense_Mutation_p.R115*	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1229	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCTATATATCGAACTTCCCAC	0.313		NA											6	42					0	0	0	0
DOPEY1	23033	broad.mit.edu	37	6	83841951	83841951	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:83841951G>A	uc003pjs.1	+	18	2933	c.2673G>A	c.(2671-2673)CAG>CAA	p.Q891Q	DOPEY1_uc011dyy.1_Silent_p.Q882Q|DOPEY1_uc010kbl.1_Silent_p.Q882Q	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	891					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGCATCACCAGAAGAGTGTGG	0.373		NA											5	82					0	0	0	0
HTR1E	3354	broad.mit.edu	37	6	87725377	87725377	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:87725377T>C	uc003pli.2	+	2	1028	c.325T>C	c.(325-327)TCC>CCC	p.S109P		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	109	Helical; Name=3; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)|skin(1)	3		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTGCACCTGCTCCATCCTCCA	0.562		NA											10	89					0	0	0	0
ZNF292	23036	broad.mit.edu	37	6	87971506	87971506	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:87971506G>A	uc003plm.3	+	8	8200	c.8159G>A	c.(8158-8160)AGA>AAA	p.R2720K		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCCACAGGCAGAGGTCAGTAC	0.318		NA											4	33					0	0	0	0
SOBP	55084	broad.mit.edu	37	6	107956508	107956508	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:107956508G>T	uc003prx.2	+	6	2964	c.2460G>T	c.(2458-2460)ATG>ATT	p.M820I		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	820							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCTGCGGATGCTGCCCAAGA	0.647		NA											18	122					9.17e-09	1.66e-08	1	0
SYNJ2	8871	broad.mit.edu	37	6	158516741	158516741	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:158516741C>T	uc003qqx.1	+	27	3911	c.3836C>T	c.(3835-3837)ACA>ATA	p.T1279I	SYNJ2_uc003qqy.1_Missense_Mutation_p.T992I|SYNJ2_uc003qqz.1_Missense_Mutation_p.T896I|SYNJ2_uc003qra.1_Missense_Mutation_p.T622I|SYNJ2_uc010kjp.1_Missense_Mutation_p.T162I	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1279	Catalytic (By similarity).|Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCTGTCGTGACAGCCCCTCGA	0.567		NA											10	65					0	0	0	0
STAG3	10734	broad.mit.edu	37	7	99794806	99794806	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:99794806C>T	uc003utx.1	+	10	1124	c.969C>T	c.(967-969)ATC>ATT	p.I323I	STAG3_uc010lgs.1_Silent_p.I111I|STAG3_uc011kjk.1_Silent_p.I265I	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	323	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCGTGCTATCTGCATTGAGG	0.453		NA											31	244					0	0	0	0
LRRN3	54674	broad.mit.edu	37	7	110763864	110763864	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:110763864C>T	uc003vft.3	+	4	2082	c.1036C>T	c.(1036-1038)CTC>TTC	p.L346F	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L346F|LRRN3_uc003vfs.3_Missense_Mutation_p.L346F	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	346	Extracellular (Potential).|LRR 12.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAGCAATGCTCTCAGTGCCCT	0.453		NA											16	71					0	0	0	0
FEZF1	389549	broad.mit.edu	37	7	121943818	121943818	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:121943818T>G	uc003vkd.2	-	1	748	c.674A>C	c.(673-675)CAG>CCG	p.Q225P	FEZF1_uc003vkc.2_Missense_Mutation_p.Q175P|uc010lko.1_RNA|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	225					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q225H(1)		ovary(2)|breast(1)	3						ATGCTGCAGCTGAGCCTGGGA	0.507		NA											3	108					0	0	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192787	132192787	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:132192787G>A	uc003vra.3	-	2	895	c.666C>T	c.(664-666)TTC>TTT	p.F222F	PLXNA4_uc003vrc.2_Silent_p.F222F|PLXNA4_uc003vrb.2_Silent_p.F222F	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	222	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TCGAGGCCACGAACTCATCAT	0.488		NA											7	102					0	0	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602131	138602131	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:138602131A>G	uc011kql.1	-	2	2290	c.2241T>C	c.(2239-2241)GCT>GCC	p.A747A	KIAA1549_uc003vuk.3_Silent_p.A697A|KIAA1549_uc011kqj.1_Silent_p.A747A	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	747	Ser-rich.					integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TTTCAATGAAAGCTGAGGTAA	0.473		NA	O	BRAF	pilocytic astrocytoma								7	38					0	0	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269980	150269980	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:150269980G>C	uc003whl.2	+	3	904	c.822G>C	c.(820-822)AAG>AAC	p.K274N	GIMAP4_uc011kuu.1_Missense_Mutation_p.K135N|GIMAP4_uc011kuv.1_Missense_Mutation_p.K288N	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	274	Potential.						GTP binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGGAAAAGAGAAAGAAGC	0.463		NA											3	20					0	0	0	0
AGPAT5	55326	broad.mit.edu	37	8	6566210	6566210	+	Silent	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:6566210C>G	uc003wqo.2	+	1	333	c.21C>G	c.(19-21)CTC>CTG	p.L7L	AGPAT5_uc011kwm.1_Silent_p.L7L	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	7					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity				0			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		CCCTGGTGCTCCACACGTACT	0.726		NA									OREG0007035	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=AGPAT5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	3	23					0	0	0	0
EBF2	64641	broad.mit.edu	37	8	25902267	25902267	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:25902267C>T	uc003xes.1	-	1	126	c.109G>A	c.(109-111)GAC>AAC	p.D37N	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Missense_Mutation_p.D37N	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	37					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACATTAGCGTCCACCACTCCG	0.567		NA											6	104					0	0	0	0
ELP3	55140	broad.mit.edu	37	8	27995259	27995259	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:27995259C>T	uc003xgo.3	+	10	1099	c.951C>T	c.(949-951)CTC>CTT	p.L317L	ELP3_uc003xgn.3_Silent_p.L302L|ELP3_uc011laq.1_Silent_p.L245L|ELP3_uc011lar.1_Silent_p.L225L|ELP3_uc011las.1_Silent_p.L198L|ELP3_uc011lat.1_Silent_p.L198L	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	317					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GGCTGAAACTCTATCCTACCC	0.458		NA											6	72					0	0	0	0
ZFHX4	79776	broad.mit.edu	37	8	77761784	77761784	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:77761784G>A	uc003yav.2	+	8	3934	c.3547G>A	c.(3547-3549)GAC>AAC	p.D1183N	ZFHX4_uc003yau.1_Missense_Mutation_p.D1228N|ZFHX4_uc003yaw.1_Missense_Mutation_p.D1183N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1183	C2H2-type 8.					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)			CAATAGTAGGGACCAAAGTCG	0.388		NA								HNSCC(33;0.089)			8	77					0	0	0	0
TM7SF4	81501	broad.mit.edu	37	8	105367220	105367220	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:105367220T>G	uc003ylx.1	+	3	1194	c.1145T>G	c.(1144-1146)GTT>GGT	p.V382G		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	382	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCTCTCAGTGTTATTCTTTTG	0.403		NA											3	77					0	0	0	0
ACO1	48	broad.mit.edu	37	9	32423409	32423409	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:32423409T>G	uc003zqw.3	+	9	1218	c.1063T>G	c.(1063-1065)TTC>GTC	p.F355V	ACO1_uc010mjh.1_Missense_Mutation_p.F189V|ACO1_uc003zqx.3_Missense_Mutation_p.F355V|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	355					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGACCCAGACTTCACCCAGGT	0.418		NA											6	105					0	0	0	0
TAF1L	138474	broad.mit.edu	37	9	32633618	32633618	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:32633618A>C	uc003zrg.1	-	1	2050	c.1960T>G	c.(1960-1962)TCA>GCA	p.S654A	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	654					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGTTGGACTGAATGGGGACCT	0.498		NA											5	136					0	0	0	0
PRSS3	5646	broad.mit.edu	37	9	33798053	33798053	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:33798053G>A	uc003ztj.3	+	3	598	c.598G>A	c.(598-600)GGC>AGC	p.G200S	uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.G157S|PRSS3_uc003ztl.3_Missense_Mutation_p.G143S	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	200	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCTCATCTCCGGCTGGGGCAA	0.567		NA											5	102					0	0	0	0
FANCG	2189	broad.mit.edu	37	9	35074164	35074164	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:35074164C>T	uc003zwb.1	-	14	2302	c.1810G>A	c.(1810-1812)GAT>AAT	p.D604N	VCP_uc003zvy.2_5'Flank|VCP_uc003zvz.2_5'Flank|VCP_uc010mkh.1_5'Flank|VCP_uc010mki.1_5'Flank|FANCG_uc003zwa.1_Missense_Mutation_p.D346N|FANCG_uc010mkj.1_Missense_Mutation_p.D346N	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	604					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCGTCACGATCAGAGGGACGG	0.517		NA	Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				7	57					0	0	0	0
PTCH1	5727	broad.mit.edu	37	9	98209652	98209652	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:98209652C>T	uc004avk.3	-	23	4074	c.3886G>A	c.(3886-3888)GGA>AGA	p.G1296R	PTCH1_uc010mrn.2_Missense_Mutation_p.G88R|PTCH1_uc010mro.2_Missense_Mutation_p.G1145R|PTCH1_uc010mrp.2_Missense_Mutation_p.G1145R|PTCH1_uc010mrq.2_Missense_Mutation_p.G1145R|PTCH1_uc004avl.3_Missense_Mutation_p.G1145R|PTCH1_uc010mrr.2_Missense_Mutation_p.G1230R|PTCH1_uc004avm.3_Missense_Mutation_p.G1295R	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1296	Cytoplasmic (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCTTGCCGTCCGGGAGGCAGG	0.652		NA							Basal_Cell_Nevus_syndrome				17	92					0	0	0	0
NCBP1	4686	broad.mit.edu	37	9	100425264	100425264	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:100425264G>A	uc004axq.2	+	18	2191	c.1732G>A	c.(1732-1734)GAA>AAA	p.E578K		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	578					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.158)				AACCCTAGCTGAAAGTGATGA	0.323		NA											8	61					0	0	0	0
ALDOB	229	broad.mit.edu	37	9	104187258	104187258	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:104187258A>C	uc004bbk.2	-	8	948	c.866T>G	c.(865-867)CTT>CGT	p.L289R		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	289					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TAGAGGGCAAAGGTTGATAGC	0.522		NA											3	66					0	0	0	0
TTLL11	158135	broad.mit.edu	37	9	124751885	124751885	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:124751885G>A	uc004blt.1	-	4	1316	c.1128C>T	c.(1126-1128)TGC>TGT	p.C376C	TTLL11_uc011lyl.1_Silent_p.C376C|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Silent_p.C53C|TTLL11_uc004blu.1_3'UTR	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	376	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0						GGAGAGGTTTGCAGATGTACT	0.493		NA											14	106					0	0	0	0
CRAT	1384	broad.mit.edu	37	9	131864310	131864310	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:131864310A>G	uc004bxh.2	-	6	939	c.657T>C	c.(655-657)AGT>AGC	p.S219S	CRAT_uc004bxg.2_Silent_p.S198S|CRAT_uc004bxk.3_Silent_p.S198S	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	219					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GTGTCCCGTCACTGTGGTACA	0.572		NA											5	31					0	0	0	0
PMPCA	23203	broad.mit.edu	37	9	139316332	139316332	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:139316332A>T	uc004chl.2	+	12	1317	c.1312A>T	c.(1312-1314)AAC>TAC	p.N438Y	PMPCA_uc010nbl.2_Missense_Mutation_p.N338Y|PMPCA_uc011mdz.1_Missense_Mutation_p.N307Y|PMPCA_uc004chn.1_Missense_Mutation_p.N35Y	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	438					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCTCATGATGAACCTGGAATC	0.622		NA											11	71					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139392000	139392000	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:139392000G>A	uc004chz.2	-	34	6191	c.6191C>T	c.(6190-6192)CCC>CTC	p.P2064L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2064	ANK 5.|Cytoplasmic (Potential).				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)		CAGAAACAGGGGTGTCTCCTC	0.677		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			3	20					0	0	0	0
SFRS17A	8227	broad.mit.edu	37	X	1720159	1720159	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:1720159G>A	uc004cqa.2	+	5	1956	c.1760G>A	c.(1759-1761)CGG>CAG	p.R587Q	SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	587	Arg-rich.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		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)				AGCAAGGGCCGGGGCCGGGCC	0.687		NA											4	33					0	0	0	0
USP9X	8239	broad.mit.edu	37	X	41048594	41048594	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:41048594C>T	uc004dfb.2	+	26	4476	c.3843C>T	c.(3841-3843)GAC>GAT	p.D1281D	USP9X_uc004dfc.2_Silent_p.D1281D	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1281					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						ACTTGGAAGACGAACAGGTTT	0.388		NA											9	72					0	0	0	0
WDR13	64743	broad.mit.edu	37	X	48458093	48458093	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:48458093G>A	uc004dkh.1	+	5	658	c.511G>A	c.(511-513)GTG>ATG	p.V171M	WDR13_uc010nif.1_Missense_Mutation_p.V49M|WDR13_uc004dki.1_Missense_Mutation_p.V79M|WDR13_uc004dkj.1_Missense_Mutation_p.V171M|WDR13_uc004dkk.1_Missense_Mutation_p.V79M|WDR13_uc004dkl.3_Missense_Mutation_p.V79M|WDR13_uc011mme.1_Missense_Mutation_p.V49M	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	171	WD 1.					cytoplasm|nucleus				ovary(2)	2						TGACCAGCACGTGGATGAGGC	0.572		NA											11	80					0	0	0	0
MTMR8	55613	broad.mit.edu	37	X	63551561	63551561	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:63551561T>A	uc004dvs.2	-	11	1296	c.1228A>T	c.(1228-1230)ATG>TTG	p.M410L	MTMR8_uc011mou.1_Intron|MTMR8_uc004dvt.1_Missense_Mutation_p.M410L	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	410	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						AACTGTTCCATTAATTGCCAG	0.438		NA											4	39					0	0	0	0
TAF1	6872	broad.mit.edu	37	X	70607298	70607298	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:70607298G>A	uc004dzu.3	+	15	2462	c.2411G>A	c.(2410-2412)CGA>CAA	p.R804Q	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R825Q|TAF1_uc004dzv.3_5'Flank	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	804					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				ACGCATATTCGAGACTTTCTA	0.378		NA											8	69					0	0	0	0
NOX1	27035	broad.mit.edu	37	X	100098950	100098950	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:100098950T>G	uc004egj.2	-	13	1892	c.1686A>C	c.(1684-1686)GAA>GAC	p.E562D	NOX1_uc004egl.3_Missense_Mutation_p.E513D|NOX1_uc010nne.2_Missense_Mutation_p.E525D	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1 isoform long	562	Cytoplasmic (Potential).				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1						CTCAAAAATTTTCTTTGTTGA	0.408		NA											3	32					0	0	0	0
BTK	695	broad.mit.edu	37	X	100608293	100608293	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:100608293C>G	uc004ehg.2	-	18	1990	c.1797G>C	c.(1795-1797)GAG>GAC	p.E599D	BTK_uc004ehf.2_Missense_Mutation_p.E99D|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.E75D|BTK_uc010nnm.2_Missense_Mutation_p.E169D|BTK_uc010nnn.2_Missense_Mutation_p.E423D|BTK_uc010nno.2_Missense_Mutation_p.E633D	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	599	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						TAGTAAATCTCTCATATGGCA	0.423		NA							Agammaglobulinemia_X-linked				18	160					0	0	0	0
STAG2	10735	broad.mit.edu	37	X	123159747	123159747	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:123159747C>T	uc004etz.3	+	3	441	c.102C>T	c.(100-102)AAC>AAT	p.N34N	STAG2_uc004eua.2_Silent_p.N34N|STAG2_uc004eub.2_Silent_p.N34N|STAG2_uc004euc.2_Silent_p.N34N|STAG2_uc004eud.2_Silent_p.N34N|STAG2_uc004eue.2_Silent_p.N34N	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	34					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						AAGGAAAAAACCAAAAGCAAG	0.323		NA											7	110					0	0	0	0
DDX26B	203522	broad.mit.edu	37	X	134690127	134690127	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:134690127T>G	uc004eyw.3	+	9	1457	c.1094T>G	c.(1093-1095)CTT>CGT	p.L365R		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	365											0	Acute lymphoblastic leukemia(192;6.56e-05)					TACAATGAACTTGGATATCCA	0.348		NA											7	95					0	0	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696341	153696341	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:153696341G>A	uc004flm.2	+	21	3990	c.3817G>A	c.(3817-3819)GAA>AAA	p.E1273K		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1273	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GGAGTGCAAGGAAGGTGCCTG	0.642		NA											13	55					0	0	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696645	153696645	+	Splice_Site	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:153696645G>A	uc004flm.2	+	23	4137	c.3964_splice	c.e23-1	p.T1322_splice		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor						axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GCTCCCCACAGACGCCACCCA	0.672		NA											7	76					0	0	0	0
MPP1	4354	broad.mit.edu	37	X	154019310	154019310	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:154019310A>C	uc004fmp.1	-	4	474	c.359T>G	c.(358-360)ATC>AGC	p.I120S	MPP1_uc010nvg.1_Missense_Mutation_p.I120S|MPP1_uc011mzv.1_Missense_Mutation_p.I90S|MPP1_uc004fmq.1_Missense_Mutation_p.I74S|MPP1_uc011mzw.1_Missense_Mutation_p.I103S|MPP1_uc010nvh.1_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	120	PDZ.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTGCCATTGATTTCTAGGAT	0.423		NA											7	268					0	0	0	0
F8	2157	broad.mit.edu	37	X	154128150	154128150	+	Silent	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:154128150A>C	uc004fmt.2	-	21	6435	c.6264T>G	c.(6262-6264)TCT>TCG	p.S2088S	F8_uc010nvi.1_Intron	NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	2088	F5/8 type C 1.		S -> F (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCTTGATCCAAGAAAAGGGCT	0.413		NA											4	34					0	0	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63944501	63944502	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:63944501_63944502delTT	uc001dba.1	-	4	218_219	c.187_188delAA	c.(187-189)AAGfs	p.K63fs	ITGB3BP_uc001dbb.1_Frame_Shift_Del_p.K102fs|ITGB3BP_uc001dbc.1_RNA|ITGB3BP_uc001dbd.1_Intron|ITGB3BP_uc009wak.1_Frame_Shift_Del_p.K85fs	NM_014288	NP_055103	Q13352	CENPR_HUMAN	integrin beta 3 binding protein	63	Nuclear localization signal.			Missing: Abolishes localization to nucleus.|KRK->AAA: Abolishes localization to nucleus.	apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity				0						TTTTTTTCTCTTTTCTATATAT	0.228		NA											8	41	---	---	---	---	NA	NA	NA	NA
C10orf71	118461	broad.mit.edu	37	10	50534969	50534970	+	Frame_Shift_Ins	INS	-	-	AC	rs66701434		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:50534969_50534970insAC	uc010qgp.1	+	4	2407_2408	c.2068_2069insAC	c.(2068-2070)AACfs	p.N690fs		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	690											0						CAAAACAAGCAacacacacaca	0.406		NA											3	4	---	---	---	---	NA	NA	NA	NA
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:25671273delG	uc001upy.2	+	1	998	c.937delG	c.(937-939)GCGfs	p.A313fs		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4.				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)		TCTCCGGAAAGCGTTTTCTCC	0.408		NA											8	315	---	---	---	---	NA	NA	NA	NA
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs121912712	by1000genomes	TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:94844884_94844885insG	uc001ycx.3	-	5	1419_1420	c.1158_1159insC	c.(1156-1161)CCCGAGfs	p.P386fs	SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Frame_Shift_Ins_p.P386fs|SERPINA1_uc010aux.2_Frame_Shift_Ins_p.P386fs|SERPINA1_uc001ycy.3_Frame_Shift_Ins_p.P386fs|SERPINA1_uc010auy.2_Frame_Shift_Ins_p.P386fs|SERPINA1_uc001ycz.3_Frame_Shift_Ins_p.P386fs|SERPINA1_uc010auz.2_Frame_Shift_Ins_p.P386fs|SERPINA1_uc010ava.2_Frame_Shift_Ins_p.P386fs|SERPINA1_uc001ydb.3_Frame_Shift_Ins_p.P386fs|SERPINA1_uc010avb.2_Frame_Shift_Ins_p.P386fs|SERPINA1_uc001ydc.3_Frame_Shift_Ins_p.P386fs	NM_000295	NP_000286	P01009	A1AT_HUMAN	serine proteinase inhibitor, clade A, member 1	386_387	RCL.		E -> K (in Christchurch).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			skin(1)	1		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACTTGACCTCGGGGGGGATAG	0.49		NA							Alpha-1-Antitrypsin_Deficiency				12	60	---	---	---	---	NA	NA	NA	NA
CPNE2	221184	broad.mit.edu	37	16	57157367	57157370	+	Frame_Shift_Del	DEL	CTGC	CTGC	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:57157367_57157370delCTGC	uc002eks.1	+	10	1138_1141	c.909_912delCTGC	c.(907-912)GGCTGCfs	p.G303fs	CPNE2_uc010cct.1_Frame_Shift_Del_p.G329fs|CPNE2_uc010ccu.1_Frame_Shift_Del_p.G303fs|CPNE2_uc002ekt.1_5'Flank	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	copine II	303_304										central_nervous_system(1)|skin(1)	2		all_neural(199;0.224)				TCCTGGGAGGCTGCCAGCTCATGT	0.426		NA											9	84	---	---	---	---	NA	NA	NA	NA
CASP8	841	broad.mit.edu	37	2	202131442	202131443	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:202131442_202131443insC	uc002uxr.1	+	3	442_443	c.233_234insC	c.(232-234)TACfs	p.Y78fs	CASP8_uc010ftc.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxo.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxp.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxq.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxs.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxt.1_Frame_Shift_Ins_p.Y137fs|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxw.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxy.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxx.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc010ftf.2_Frame_Shift_Ins_p.Y78fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	78	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						CTGATTACCTACCTAAACACTA	0.475		NA								HNSCC(4;0.00038)			13	52	---	---	---	---	NA	NA	NA	NA
HLA-B	3106	broad.mit.edu	37	6	31323342	31323343	+	Frame_Shift_Ins	INS	-	-	G	rs80060802		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:31323342_31323343insG	uc003nth.2	-	4	700_701	c.646_647insC	c.(646-648)CACfs	p.H216fs	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Frame_Shift_Ins_p.H95fs|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA|HLA-B_uc010jso.2_3'UTR	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	216	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						AGAGATGGGGTGGTGGGTCACG	0.584		NA							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				24	195	---	---	---	---	NA	NA	NA	NA
DST	667	broad.mit.edu	37	6	56494093	56494094	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:56494093_56494094delTG	uc003pdf.2	-	31	4358_4359	c.4330_4331delCA	c.(4330-4332)CAAfs	p.Q1444fs	DST_uc003pcz.3_Frame_Shift_Del_p.Q1266fs|DST_uc011dxj.1_Frame_Shift_Del_p.Q1295fs|DST_uc011dxk.1_Frame_Shift_Del_p.Q1306fs|DST_uc003pcy.3_Frame_Shift_Del_p.Q940fs|DST_uc003pdb.2_Frame_Shift_Del_p.Q940fs|DST_uc003pdc.3_Frame_Shift_Del_p.Q940fs|DST_uc003pdd.3_Frame_Shift_Del_p.Q940fs	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	1266					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCAACTAATTGATCTGCTTTT	0.356		NA											10	108	---	---	---	---	NA	NA	NA	NA
RNF122	79845	broad.mit.edu	37	8	33408567	33408568	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:33408567_33408568insT	uc003xjo.1	-	4	666_667	c.264_265insA	c.(262-267)TTATATfs	p.L88fs		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	ring finger protein 122	88_89						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CTTACCCCATATAATTGTAACT	0.51		NA											49	299	---	---	---	---	NA	NA	NA	NA
ATP1B4	23439	broad.mit.edu	37	X	119504589	119504591	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:119504589_119504591delCTT	uc004esr.2	+	3	432_434	c.348_350delCTT	c.(346-351)TACTTC>TAC	p.F119del	ATP1B4_uc004esq.2_In_Frame_Del_p.F115del|ATP1B4_uc011mtx.1_In_Frame_Del_p.F84del|ATP1B4_uc011mty.1_Intron	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	ATPase, (Na+)/K+ transporting, beta 4	119	Helical; Signal-anchor for type II membrane protein; (Potential).				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			ovary(1)|skin(1)	2						TACTCATTTACTTCTTCTTCTAT	0.483		NA											41	269	---	---	---	---	NA	NA	NA	NA