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
NOC2L	26155	broad.mit.edu	37	1	886571	886571	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:886571C>A	uc001abz.3	-	12	1438	c.1379G>T	c.(1378-1380)CGT>CTT	p.R460L	NOC2L_uc001aby.3_Missense_Mutation_p.R257L|NOC2L_uc009vjq.2_Missense_Mutation_p.R460L	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	460						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CGTCAGGGCACGGATGCAGTG	0.687		NA											3	6					0.004672	0.00619083	1	0
CCDC27	148870	broad.mit.edu	37	1	3683848	3683848	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:3683848G>C	uc001akv.2	+	10	1663	c.1582G>C	c.(1582-1584)GAG>CAG	p.E528Q		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	528										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGTCATCTCAGAGTTGGACAC	0.567		NA											6	30					0	0	0	0
MTHFR	4524	broad.mit.edu	37	1	11851316	11851316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:11851316C>T	uc001atc.1	-	11	1884	c.1700G>A	c.(1699-1701)CGA>CAA	p.R567Q	MTHFR_uc001atb.1_Missense_Mutation_p.R590Q	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	567					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GATGATCTCTCGCCCAGGGAA	0.602		NA											18	30					0	0	0	0
PRDM2	7799	broad.mit.edu	37	1	14108593	14108593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:14108593C>T	uc001avi.2	+	8	5159	c.4303C>T	c.(4303-4305)CAG>TAG	p.Q1435*	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Nonsense_Mutation_p.Q1435*|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Nonsense_Mutation_p.Q1234*|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1435	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCAATTCTTCAGAAAAACAA	0.378		NA											65	139					0	0	0	0
PRDM2	7799	broad.mit.edu	37	1	14108975	14108975	+	Missense_Mutation	SNP	C	C	T	rs61747666		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:14108975C>T	uc001avi.2	+	8	5541	c.4685C>T	c.(4684-4686)TCG>TTG	p.S1562L	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1562L|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S1361L|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1562						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTTGCAGCTTCGGTGAAATCC	0.512		NA											23	61					0	0	0	0
PRDM2	7799	broad.mit.edu	37	1	14109005	14109005	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:14109005C>G	uc001avi.2	+	8	5571	c.4715C>G	c.(4714-4716)TCT>TGT	p.S1572C	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1572C|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S1371C|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1572						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCTCCTCCTCTTTAAGGAAC	0.488		NA											20	51					0	0	0	0
UBR4	23352	broad.mit.edu	37	1	19505574	19505574	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:19505574G>A	uc001bbi.2	-	18	2329	c.2325C>T	c.(2323-2325)GAC>GAT	p.D775D	UBR4_uc001bbm.1_Translation_Start_Site	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	775					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTCTGGGACGTCAGGGTCAC	0.458		NA											13	170					0	0	0	0
SH2D5	400745	broad.mit.edu	37	1	21050978	21050978	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:21050978C>T	uc001bdt.1	-	5	914	c.289G>A	c.(289-291)GAG>AAG	p.E97K	SH2D5_uc009vpy.1_Missense_Mutation_p.E181K|SH2D5_uc001bdu.1_RNA	NM_001103160	NP_001096630	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5 isoform 2	97											0		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGAAGGGCTCCCGCACCAGG	0.692		NA											7	15					0	0	0	0
SFN	2810	broad.mit.edu	37	1	27190444	27190444	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:27190444G>C	uc001bnc.1	+	1	812	c.741G>C	c.(739-741)CAG>CAC	p.Q247H	uc010ofi.1_RNA	NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	247					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGGAGCCCCAGAGCTGAGTGT	0.687		NA											7	21					0	0	0	0
COL16A1	1307	broad.mit.edu	37	1	32134424	32134424	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:32134424C>T	uc001btk.1	-	50	3593	c.3228G>A	c.(3226-3228)CTG>CTA	p.L1076L	COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Silent_p.L874L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1076	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGTCTCCAGTCAGGCCCGTGA	0.617		NA											22	37					0	0	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237233	33237233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:33237233C>T	uc001bvv.2	+	6	2412	c.2276C>T	c.(2275-2277)TCG>TTG	p.S759L	KIAA1522_uc001bvu.1_Missense_Mutation_p.S818L|KIAA1522_uc010ohm.1_Missense_Mutation_p.S770L|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	759	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCGGCTGCTTCGTCCTCCTCA	0.652		NA											19	42					0	0	0	0
CTPS	1503	broad.mit.edu	37	1	41454371	41454371	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:41454371C>G	uc001cgk.3	+	5	1052	c.544C>G	c.(544-546)CTA>GTA	p.L182V	CTPS_uc010ojo.1_Intron|CTPS_uc010ojp.1_Missense_Mutation_p.L189V|CTPS_uc001cgl.3_Missense_Mutation_p.L182V|CTPS_uc010ojq.1_Missense_Mutation_p.L26V	NM_001905	NP_001896	P17812	PYRG1_HUMAN	CTP synthase	182					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)			L-Glutamine(DB00130)	CCACGTCAGTCTAGTTCCCCA	0.443		NA											5	64					0	0	0	0
CCDC30	728621	broad.mit.edu	37	1	43047055	43047055	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:43047055G>C	uc009vwk.1	+	8	1200	c.1090G>C	c.(1090-1092)GAA>CAA	p.E364Q	CCDC30_uc001chm.2_Missense_Mutation_p.E62Q|CCDC30_uc001chn.2_Missense_Mutation_p.E153Q|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Missense_Mutation_p.E178Q	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	364	Potential.										0						GCGGAAATTAGAACATGCTCA	0.338		NA											17	71					0	0	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45485782	45485782	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:45485782C>T	uc001cnd.2	-	13	2879	c.2651G>A	c.(2650-2652)CGC>CAC	p.R884H		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	884							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CATCTCCCTGCGTCTCCAGTT	0.552		NA											9	25					0	0	0	0
GBP1	2633	broad.mit.edu	37	1	89521738	89521738	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:89521738C>T	uc001dmx.2	-	8	1549	c.1329G>A	c.(1327-1329)CTG>CTA	p.L443L		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	443					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACTTTTTCTTCAGGTCTTGTA	0.438		NA											77	186					0	0	0	0
BTBD8	284697	broad.mit.edu	37	1	92613302	92613302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:92613302G>C	uc001doo.2	+	9	1348	c.1081G>C	c.(1081-1083)GAG>CAG	p.E361Q	BTBD8_uc010otc.1_RNA	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	361						nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TATACCTCCTGAGATTCAGAA	0.308		NA											15	20					0	0	0	0
CCDC76	54482	broad.mit.edu	37	1	100608709	100608709	+	Missense_Mutation	SNP	G	G	A	rs147022991		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:100608709G>A	uc001dsv.2	+	8	705	c.686G>A	c.(685-687)AGA>AAA	p.R229K	CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.R229K	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	229					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		GGAAAACACAGAAAGAAAAAT	0.274		NA											5	25					0	0	0	0
AP4B1	10717	broad.mit.edu	37	1	114442970	114442970	+	Missense_Mutation	SNP	G	G	A	rs138216814		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:114442970G>A	uc001eeb.2	-	5	813	c.670C>T	c.(670-672)CGC>TGC	p.R224C	uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.R56C|AP4B1_uc001eed.2_Missense_Mutation_p.R224C|AP4B1_uc010owp.1_Missense_Mutation_p.R125C|AP4B1_uc001eea.1_Missense_Mutation_p.R18C|AP4B1_uc010owq.1_Missense_Mutation_p.R131C	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	224					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTTGGTAGCGTAGCAGAAAG	0.428		NA											14	39					0	0	0	0
DENND2C	163259	broad.mit.edu	37	1	115153710	115153710	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:115153710G>C	uc001efd.1	-	9	2055	c.1353C>G	c.(1351-1353)GCC>GCG	p.A451A	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Silent_p.A394A	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	451										skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGATACTCGGCATCACTTT	0.458		NA											5	75					0	0	0	0
ACP6	51205	broad.mit.edu	37	1	147131131	147131131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:147131131C>T	uc001epr.2	-	4	967	c.503G>A	c.(502-504)CGG>CAG	p.R168Q	ACP6_uc009wjj.1_Missense_Mutation_p.R125Q	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	168					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)					CTCCAGATTCCGAAAAATGTT	0.413		NA											33	76					0	0	0	0
MTMR11	10903	broad.mit.edu	37	1	149905304	149905305	+	Missense_Mutation	DNP	AG	AG	TT			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:149905304_149905305AG>TT	uc001etl.3	-	10	1230_1231	c.979_980CT>AA	c.(979-981)CTG>AAG	p.L327K	MTMR11_uc001etm.1_Missense_Mutation_p.L255K|MTMR11_uc010pbm.1_Missense_Mutation_p.L299K|MTMR11_uc010pbn.1_Missense_Mutation_p.L169K	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	327	Myotubularin phosphatase.						phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTCACCAGGCAGGCAGAGGGCC	0.559		NA											36	101					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152282919	152282919	+	Silent	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:152282919T>C	uc001ezu.1	-	3	4479	c.4443A>G	c.(4441-4443)GCA>GCG	p.A1481A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1481	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCTTGGGATGCTGAGTGCC	0.567		NA							Ichthyosis				16	356					0	0	0	0
FLG	2312	broad.mit.edu	37	1	152282956	152282956	+	Missense_Mutation	SNP	C	C	T	rs145675213	byFrequency	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:152282956C>T	uc001ezu.1	-	3	4442	c.4406G>A	c.(4405-4407)CGC>CAC	p.R1469H	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1469	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCATGGCGGGATCCTTG	0.577		NA							Ichthyosis				24	255					0	0	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154523963	154523963	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:154523963C>G	uc001fff.1	-	11	1171	c.1080G>C	c.(1078-1080)TGG>TGC	p.W360C		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q	360							ATP binding|protein binding|ubiquitin-protein ligase activity				0	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGCACTGCTCCAGCCCTGGG	0.537		NA											42	65					0	0	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887369	155887369	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:155887369G>C	uc001fmi.1	-	11	1385	c.1361C>G	c.(1360-1362)CCA>CGA	p.P454R	KIAA0907_uc001fmj.1_Missense_Mutation_p.P454R|KIAA0907_uc009wrk.1_Missense_Mutation_p.P311R|KIAA0907_uc009wrl.1_RNA	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	454	Pro-rich.										0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GGGCTGACTTGGGAGTGgggg	0.443		NA											25	41					0	0	0	0
OR10X1	128367	broad.mit.edu	37	1	158548948	158548948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:158548948C>T	uc010pin.1	-	1	742	c.742G>A	c.(742-744)GAG>AAG	p.E248K		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	248	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TGCTTGCCCTCAGCTGAAGGG	0.473		NA											41	81					0	0	0	0
ATP1A4	480	broad.mit.edu	37	1	160156138	160156138	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:160156138C>T	uc001fve.3	+	21	3521	c.3042C>T	c.(3040-3042)CTC>CTT	p.L1014L	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.L517L|ATP1A4_uc001fvh.2_Silent_p.L150L	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	1014	Cytoplasmic (Potential).			ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAAAACTCCTCATCCGTCAGC	0.562		NA											38	123					0	0	0	0
COPA	1314	broad.mit.edu	37	1	160275281	160275281	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:160275281C>T	uc009wti.2	-	17	2003	c.1609G>A	c.(1609-1611)GAG>AAG	p.E537K	COPA_uc001fvv.3_Missense_Mutation_p.E546K|COPA_uc009wtj.1_Missense_Mutation_p.E483K	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	537					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCCCACTCTCATCCCAGGCC	0.438		NA											7	124					0	0	0	0
NPHS2	7827	broad.mit.edu	37	1	179533893	179533893	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:179533893G>T	uc001gmq.3	-	2	395	c.310C>A	c.(310-312)CTT>ATT	p.L104I	NPHS2_uc009wxi.2_Missense_Mutation_p.L104I	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	104					excretion	integral to plasma membrane	protein binding				0						AGGACAAGAAGCCACTCACAG	0.398		NA											13	28					6.32e-08	8.62e-08	1	0
CEP350	9857	broad.mit.edu	37	1	180012229	180012229	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:180012229C>T	uc001gnt.2	+	20	4784	c.4401C>T	c.(4399-4401)GTC>GTT	p.V1467V	CEP350_uc009wxl.2_Silent_p.V1466V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1467						centrosome|nucleus|spindle				ovary(4)	4						CAGATGCTGTCGTGGCTTCAG	0.418		NA											41	87					0	0	0	0
XPR1	9213	broad.mit.edu	37	1	180601389	180601389	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:180601389C>G	uc001goi.2	+	1	244	c.52C>G	c.(52-54)CAA>GAA	p.Q18E	XPR1_uc009wxm.2_Missense_Mutation_p.Q18E|XPR1_uc009wxn.2_Missense_Mutation_p.Q18E	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	18	SPX.|Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						GTGGAGGAAGCAATACATCCA	0.647		NA											5	4					0	0	0	0
NUAK2	81788	broad.mit.edu	37	1	205290541	205290541	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:205290541C>G	uc001hce.2	-	1	343	c.216G>C	c.(214-216)GAG>GAC	p.E72D		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	72	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)	5	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCCCGAGCTCTCCCGCGCCT	0.731		NA											19	40					0	0	0	0
FAIM3	9214	broad.mit.edu	37	1	207085264	207085264	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:207085264G>A	uc001hey.2	-	4	700	c.521C>T	c.(520-522)CCA>CTA	p.P174L	FAIM3_uc010prz.1_Missense_Mutation_p.P62L|FAIM3_uc010psa.1_Missense_Mutation_p.P83L|FAIM3_uc010psb.1_Missense_Mutation_p.P174L	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3 isoform a	174	Extracellular (Potential).				anti-apoptosis|cellular defense response	integral to membrane				central_nervous_system(1)	1	Breast(84;0.201)					GTGGTGAACTGGAGGGACCTT	0.473		NA									OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	25					0	0	0	0
PLXNA2	5362	broad.mit.edu	37	1	208257734	208257734	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:208257734C>T	uc001hgz.2	-	10	3047	c.2289G>A	c.(2287-2289)CAG>CAA	p.Q763Q		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	763	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCGAGCTGTTCTGACACTGAA	0.627		NA											19	42					0	0	0	0
RRP15	51018	broad.mit.edu	37	1	218504373	218504373	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:218504373C>A	uc001hlj.2	+	5	819	c.789C>A	c.(787-789)GAC>GAA	p.D263E	RRP15_uc001hlk.2_RNA	NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog	263						mitochondrion|nucleolus	protein binding				0				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AAGACTGGGACAAGGAAAGTG	0.408		NA											8	18					1.13e-05	1.52e-05	1	0
FMN2	56776	broad.mit.edu	37	1	240370980	240370980	+	Silent	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:240370980G>T	uc010pyd.1	+	5	3093	c.2868G>T	c.(2866-2868)CCG>CCT	p.P956P	FMN2_uc010pye.1_Silent_p.P960P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	956	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCGCCCCCTCTTC	0.697		NA											21	19					2.28e-05	3.06e-05	1	0
OR2T11	127077	broad.mit.edu	37	1	248789544	248789544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:248789544C>T	uc001ier.1	-	1	886	c.886G>A	c.(886-888)GGG>AGG	p.G296R		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTAAATGCCCCTATGACGTCC	0.473		NA											24	58					0	0	0	0
OR2T27	403239	broad.mit.edu	37	1	248813997	248813997	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:248813997G>A	uc010pzo.1	-	1	189	c.189C>T	c.(187-189)CTC>CTT	p.L63L		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGCTGGCTGAGCAGGAAGT	0.517		NA											6	46					0	0	0	0
GTPBP4	23560	broad.mit.edu	37	10	1045024	1045024	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:1045024C>G	uc001ift.2	+	6	714	c.643C>G	c.(643-645)CTA>GTA	p.L215V	GTPBP4_uc010qac.1_Missense_Mutation_p.L6V|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.L99V|GTPBP4_uc010qae.1_Missense_Mutation_p.L168V	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	215					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTATAAGTATCTACGTTGGCA	0.303		NA											13	28					0	0	0	0
CUBN	8029	broad.mit.edu	37	10	16957859	16957859	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:16957859C>G	uc001ioo.2	-	46	7223	c.7171G>C	c.(7171-7173)GAA>CAA	p.E2391Q		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2391	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGTCTTTTTCACAGCCAGAA	0.413		NA											18	39					0	0	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669819	24669819	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:24669819C>T	uc001iru.3	+	3	779	c.376C>T	c.(376-378)CAC>TAC	p.H126Y	KIAA1217_uc001irs.2_Missense_Mutation_p.H46Y|KIAA1217_uc001irt.3_Missense_Mutation_p.H126Y|KIAA1217_uc010qcy.1_Missense_Mutation_p.H126Y|KIAA1217_uc010qcz.1_Missense_Mutation_p.H126Y|KIAA1217_uc001irv.1_5'UTR|KIAA1217_uc010qda.1_RNA	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	126					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						CAAACTGTCTCACAGTCCTCA	0.468		NA											17	45					0	0	0	0
BAMBI	25805	broad.mit.edu	37	10	28971090	28971090	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:28971090G>C	uc001iuj.1	+	3	946	c.543G>C	c.(541-543)AAG>AAC	p.K181N	BAMBI_uc001iui.2_3'UTR	NM_012342	NP_036474	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	181	Cytoplasmic (Potential).				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(4)	4						GTGAAAATAAGAGGCTGCAGG	0.507		NA											18	46					0	0	0	0
PCDH15	65217	broad.mit.edu	37	10	55582664	55582664	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:55582664C>T	uc001jju.1	-	33	5217	c.4822G>A	c.(4822-4824)GAA>AAA	p.E1608K	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.E1605K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1568K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1539K|PCDH15_uc010qhy.1_Missense_Mutation_p.E1615K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1610K|PCDH15_uc010qia.1_Missense_Mutation_p.E1588K|PCDH15_uc010qib.1_Missense_Mutation_p.E1585K	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1608	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTCATTTTCAGCTTTCTGC	0.443		NA								HNSCC(58;0.16)			75	85					0	0	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60936718	60936718	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:60936718C>T	uc001jkk.3	+	1	371	c.105C>T	c.(103-105)GAC>GAT	p.D35D	PHYHIPL_uc001jkl.3_Translation_Start_Site|PHYHIPL_uc001jkm.3_5'Flank	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	35											0						GCGACCGGGACGGTAAGAGCG	0.697		NA											6	18					0	0	0	0
ZNF503	84858	broad.mit.edu	37	10	77158680	77158680	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:77158680G>C	uc001jxg.2	-	2	2104	c.1768C>G	c.(1768-1770)CGC>GGC	p.R590G	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TGGGGGCTGCGCAGCGCCAGC	0.751		NA											5	9					0	0	0	0
WAPAL	23063	broad.mit.edu	37	10	88277758	88277758	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:88277758G>C	uc001kdo.2	-	2	511	c.69C>G	c.(67-69)GTC>GTG	p.V23V	WAPAL_uc001kdn.2_Silent_p.V66V|WAPAL_uc009xsw.2_Silent_p.V23V|WAPAL_uc010qmh.1_Silent_p.V23V|WAPAL_uc010qmi.1_Silent_p.V60V|WAPAL_uc010qmj.1_Silent_p.V23V	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	23	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						TGTTGGAAAAGACTTCATCGA	0.398		NA											4	49					0	0	0	0
LCOR	84458	broad.mit.edu	37	10	98714869	98714869	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:98714869G>A	uc001kms.1	+	8	1013	c.492G>A	c.(490-492)CTG>CTA	p.L164L	LCOR_uc001kmr.2_Silent_p.L164L|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Silent_p.L164L|LCOR_uc001kmu.1_Silent_p.L164L	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	164						nucleus	DNA binding			ovary(3)	3		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		AAGAACTACTGAGCAGAAACC	0.478		NA											21	31					0	0	0	0
KNDC1	85442	broad.mit.edu	37	10	135015069	135015069	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:135015069G>A	uc001llz.1	+	17	3055	c.3054G>A	c.(3052-3054)TCG>TCA	p.S1018S	KNDC1_uc001lma.1_Silent_p.S953S|KNDC1_uc001lmb.1_Silent_p.S430S	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1018					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTCGGTGTCGGATGTGGACT	0.617		NA											36	68					0	0	0	0
KNDC1	85442	broad.mit.edu	37	10	135015189	135015189	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:135015189C>T	uc001llz.1	+	17	3175	c.3174C>T	c.(3172-3174)GGC>GGT	p.G1058G	KNDC1_uc001lma.1_Silent_p.G993G|KNDC1_uc001lmb.1_Silent_p.G470G	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1058					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCAGCTGGCGGGGCCTCAG	0.682		NA											11	34					0	0	0	0
EPS8L2	64787	broad.mit.edu	37	11	721618	721618	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:721618G>A	uc001lqt.2	+	10	1069	c.822G>A	c.(820-822)CAG>CAA	p.Q274Q	EPS8L2_uc010qwj.1_Silent_p.Q290Q|EPS8L2_uc001lqu.2_Silent_p.Q274Q|EPS8L2_uc010qwk.1_Silent_p.Q290Q|EPS8L2_uc001lqv.2_Silent_p.Q229Q|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'Flank|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	274						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCGGCTGCAGAAGGCAGCCG	0.557		NA											29	54					0	0	0	0
EPS8L2	64787	broad.mit.edu	37	11	721628	721628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:721628G>A	uc001lqt.2	+	10	1079	c.832G>A	c.(832-834)GAG>AAG	p.E278K	EPS8L2_uc010qwj.1_Missense_Mutation_p.E294K|EPS8L2_uc001lqu.2_Missense_Mutation_p.E278K|EPS8L2_uc010qwk.1_Missense_Mutation_p.E294K|EPS8L2_uc001lqv.2_Missense_Mutation_p.E233K|EPS8L2_uc001lqw.2_5'UTR|EPS8L2_uc001lqx.2_5'Flank|EPS8L2_uc001lqy.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	278						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGGCAGCCGAGGCTTTCAA	0.517		NA											27	50					0	0	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642989	1642989	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:1642989C>A	uc009ycy.1	-	3	560	c.473G>T	c.(472-474)GGC>GTC	p.G158V		NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	172	9 X 4 AA repeats of C-C-X-P.					keratin filament					0		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGCCACAGCCCCC	0.677		NA											9	81					0.00244969	0.00325412	1	0
NUP98	4928	broad.mit.edu	37	11	3740767	3740767	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:3740767G>C	uc001lyh.2	-	18	2565	c.2274C>G	c.(2272-2274)ATC>ATG	p.I758M	NUP98_uc001lyi.2_Missense_Mutation_p.I758M|NUP98_uc001lyj.1_Missense_Mutation_p.I758M|NUP98_uc001lyk.1_Missense_Mutation_p.I775M	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	775	Peptidase S59.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTTCAAAATAGATTGAACCAT	0.308		NA	T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								9	23					0	0	0	0
SYT9	143425	broad.mit.edu	37	11	7334938	7334938	+	Silent	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:7334938A>G	uc001mfe.2	+	3	1047	c.810A>G	c.(808-810)ACA>ACG	p.T270T	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	270	Cytoplasmic (Potential).|C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATCGGAAAACAAAACACCAGA	0.423		NA											9	184					0	0	0	0
ST5	6764	broad.mit.edu	37	11	8724164	8724164	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:8724164G>C	uc001mgt.2	-	14	2861	c.2675C>G	c.(2674-2676)TCA>TGA	p.S892*	ST5_uc009yfr.2_Nonsense_Mutation_p.S472*|ST5_uc001mgu.2_Nonsense_Mutation_p.S472*|ST5_uc001mgv.2_Nonsense_Mutation_p.S892*|ST5_uc010rbp.1_Nonsense_Mutation_p.S405*|ST5_uc009yfs.2_RNA	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	892	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CAGCAGCAGTGAGGCAAAGAT	0.592		NA											16	55					0	0	0	0
ARNTL	406	broad.mit.edu	37	11	13397291	13397291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:13397291C>T	uc001mkr.2	+	15	1715	c.1307C>T	c.(1306-1308)TCA>TTA	p.S436L	ARNTL_uc001mko.2_Missense_Mutation_p.S392L|ARNTL_uc001mkp.2_Missense_Mutation_p.S435L|ARNTL_uc001mkq.2_Missense_Mutation_p.S435L|ARNTL_uc001mks.2_Missense_Mutation_p.S393L|ARNTL_uc001mkt.2_Missense_Mutation_p.S436L|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.S275L|ARNTL_uc001mkw.2_Missense_Mutation_p.S393L|ARNTL_uc001mkx.2_Missense_Mutation_p.S434L|ARNTL_uc001mky.2_5'UTR	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	436	PAC.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		TATATTGTCTCAACTAACACT	0.403		NA											12	21					0	0	0	0
MYBPC3	4607	broad.mit.edu	37	11	47353698	47353698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:47353698C>T	uc001nfa.3	-	32	3794	c.3739G>A	c.(3739-3741)GAC>AAC	p.D1247N		NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1246	Ig-like C2-type 7.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		ATGCCCCCGTCAAAGGGGCAG	0.627		NA											28	48					0	0	0	0
OR4S2	219431	broad.mit.edu	37	11	55418944	55418944	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:55418944G>T	uc001nhs.1	+	1	565	c.565G>T	c.(565-567)GAA>TAA	p.E189*		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				TGCCTGCACAGAAACATACAT	0.438		NA											35	170					9.18e-22	1.29e-21	1	0
SMTNL1	219537	broad.mit.edu	37	11	57310335	57310335	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:57310335G>C	uc009ymh.1	+	2	274	c.274G>C	c.(274-276)GAT>CAT	p.D92H		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	74										ovary(1)	1						AAATGGATTAGATGAGGTCAA	0.542		NA											3	8					0	0	0	0
OSBP	5007	broad.mit.edu	37	11	59377944	59377944	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:59377944G>A	uc001noc.1	-	2	961	c.481C>T	c.(481-483)CTG>TTG	p.L161L		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	161	PH.				lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTAGCTTTCAGATGGTAGGTC	0.557		NA											28	75					0	0	0	0
CABP4	57010	broad.mit.edu	37	11	67223246	67223246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:67223246C>T	uc001olo.2	+	1	429	c.352C>T	c.(352-354)CGA>TGA	p.R118*	CABP4_uc001oln.2_5'UTR	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	118					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCTGCTCAATCGAGTCTTCGG	0.662		NA											6	11					0	0	0	0
MTL5	9633	broad.mit.edu	37	11	68514686	68514686	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:68514686G>T	uc001ooc.2	-	3	760	c.620C>A	c.(619-621)TCC>TAC	p.S207Y	MTL5_uc001ood.1_Missense_Mutation_p.S207Y|MTL5_uc009ysi.1_Missense_Mutation_p.S207Y|MTL5_uc001ooe.2_Missense_Mutation_p.S207Y	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	207					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CATTGGGTTGGAATCTTTCTT	0.418		NA											11	31					1.62e-10	2.23e-10	1	0
GDPD5	81544	broad.mit.edu	37	11	75148046	75148046	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:75148046A>G	uc001owo.3	-	17	2141	c.1604T>C	c.(1603-1605)CTG>CCG	p.L535P	GDPD5_uc001owp.3_Missense_Mutation_p.L535P|GDPD5_uc001own.3_Missense_Mutation_p.L290P|GDPD5_uc009yuc.2_Missense_Mutation_p.L397P|GDPD5_uc009yud.2_Missense_Mutation_p.L416P	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain	535	Cytoplasmic (Potential).				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			ovary(1)	1						CGCAGCACTCAGCATGATCTG	0.622		NA											13	33					0	0	0	0
SERPINH1	871	broad.mit.edu	37	11	75277820	75277820	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:75277820C>T	uc001owr.2	+	2	655	c.426C>T	c.(424-426)TTC>TTT	p.F142F	SERPINH1_uc009yuf.2_Silent_p.F142F|SERPINH1_uc009yug.2_Silent_p.F142F|SERPINH1_uc001ows.2_Silent_p.F142F|SERPINH1_uc001owt.2_5'Flank	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	142					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)					CAGTGAGCTTCGCTGATGACT	0.627		NA											8	38					0	0	0	0
THRSP	7069	broad.mit.edu	37	11	77775068	77775068	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:77775068C>G	uc001oyx.2	+	1	162	c.141C>G	c.(139-141)GGC>GGG	p.G47G		NM_003251	NP_003242	Q92748	THRSP_HUMAN	thyroid hormone-responsive protein	47					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(1)	1	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			GGCCTGGGGGCCAGGCCCAGG	0.637		NA											19	105					0	0	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308639	117308639	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr11:117308639C>G	uc001prh.1	-	25	4586	c.4584G>C	c.(4582-4584)GAG>GAC	p.E1528D		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1468	Fibronectin type-III 5.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCTCGATGATCTCGCTGATGC	0.662		NA											3	27					0	0	0	0
CHD4	1108	broad.mit.edu	37	12	6709458	6709459	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:6709458_6709459GG>TA	uc001qpo.2	-	9	1330_1331	c.1166_1167CC>TA	c.(1165-1167)CCC>CTA	p.P389L	CHD4_uc001qpn.2_Missense_Mutation_p.P382L|CHD4_uc001qpp.2_Missense_Mutation_p.P386L	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	389	PHD-type 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGTAAGCACGGGGACAGGTATC	0.594		NA											15	99					0	0	0	0
PTPN6	5777	broad.mit.edu	37	12	7069304	7069304	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:7069304C>T	uc001qsb.2	+	13	1725	c.1483C>T	c.(1483-1485)CGC>TGC	p.R495C	PTPN6_uc001qsa.1_Missense_Mutation_p.R497C|PTPN6_uc010sfr.1_Missense_Mutation_p.R456C|PTPN6_uc009zfl.1_Missense_Mutation_p.R495C|PTPN6_uc010sfs.1_Missense_Mutation_p.R483C	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	495	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1						GCGGGCGCAGCGCTCGGGCAT	0.592		NA											10	42					0	0	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091369	11091369	+	Silent	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:11091369T>C	uc010shi.1	-	1	438	c.438A>G	c.(436-438)GCA>GCG	p.A146A	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	146	Helical; Name=4; (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity				0						TGTTTATCAGTGCAATATTTA	0.343		NA											16	37					0	0	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868959	51868959	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:51868959C>T	uc001rys.1	+	16	2319	c.2141C>T	c.(2140-2142)ACG>ATG	p.T714M	SLC4A8_uc001rym.2_Missense_Mutation_p.T661M|SLC4A8_uc001ryn.2_Missense_Mutation_p.T661M|SLC4A8_uc001ryo.2_Missense_Mutation_p.T661M|SLC4A8_uc010snj.1_Missense_Mutation_p.T741M|SLC4A8_uc001ryr.2_Missense_Mutation_p.T714M|SLC4A8_uc010snk.1_Missense_Mutation_p.T661M	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	714	Cytoplasmic (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		ACCTTAAAGACGTTTAAGACG	0.443		NA											5	80					0	0	0	0
KRT1	3848	broad.mit.edu	37	12	53071509	53071509	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:53071509C>A	uc001sau.1	-	4	947	c.888G>T	c.(886-888)ATG>ATT	p.M296I	KRT1_uc001sav.1_Missense_Mutation_p.M296I	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	296	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						CCACCTTGGTCATATAAGCAC	0.478		NA											25	60					7.93e-12	1.1e-11	1	0
ERBB3	2065	broad.mit.edu	37	12	56477581	56477581	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:56477581G>A	uc001sjh.2	+	2	322	c.129G>A	c.(127-129)GAG>GAA	p.E43E	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_5'UTR|ERBB3_uc001sjg.2_Silent_p.E43E	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	43	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCGATGCTGAGAACCAATACC	0.547		NA											51	138					0	0	0	0
ERBB3	2065	broad.mit.edu	37	12	56481620	56481620	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:56481620T>C	uc001sjh.2	+	6	848	c.655T>C	c.(655-657)TTT>CTT	p.F219L	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.F160L|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	219	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGGTCACTGCTTTGGGCCCAA	0.547		NA											26	89					0	0	0	0
CAND1	55832	broad.mit.edu	37	12	67706416	67706416	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:67706416G>C	uc001stn.2	+	15	3936	c.3499G>C	c.(3499-3501)GAA>CAA	p.E1167Q	CAND1_uc001sto.2_Missense_Mutation_p.E677Q	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	1167	HEAT 27.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GCAGGAGTTTGAAAAACAAGA	0.393		NA											9	18					0	0	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85434273	85434273	+	Silent	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:85434273A>G	uc001tac.2	+	3	249	c.138A>G	c.(136-138)TCA>TCG	p.S46S	LRRIQ1_uc001tab.1_Silent_p.S46S|LRRIQ1_uc001taa.1_Silent_p.S46S|LRRIQ1_uc001tad.2_5'UTR	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	46										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TTTAGGATTCAGTTGAATTAC	0.328		NA											22	53					0	0	0	0
STAB2	55576	broad.mit.edu	37	12	104063327	104063327	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:104063327G>A	uc001tjw.2	+	21	2367	c.2181G>A	c.(2179-2181)AAG>AAA	p.K727K		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	727	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						AGATTCCAAAGTGCTGCAAAG	0.438		NA											4	79					0	0	0	0
HCFC2	29915	broad.mit.edu	37	12	104461751	104461751	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:104461751G>C	uc001tkj.3	+	3	442	c.339G>C	c.(337-339)GTG>GTC	p.V113V	HCFC2_uc009zul.2_RNA	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	113	Kelch 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			ovary(2)|central_nervous_system(1)	3						GGAAAAAAGTGAAACCCCATC	0.408		NA											53	119					0	0	0	0
ACAD10	80724	broad.mit.edu	37	12	112183993	112183993	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:112183993G>C	uc001tsq.2	+	14	2361	c.2161G>C	c.(2161-2163)GAG>CAG	p.E721Q	ACAD10_uc001tsp.2_Missense_Mutation_p.E721Q|ACAD10_uc009zvx.2_Missense_Mutation_p.E752Q|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	721							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						CCTACCCTTAGAGGCTGATCC	0.468		NA											21	44					0	0	0	0
KNTC1	9735	broad.mit.edu	37	12	123102942	123102942	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:123102942C>G	uc001ucv.2	+	58	6246	c.6083C>G	c.(6082-6084)TCA>TGA	p.S2028*	KNTC1_uc010taf.1_Nonsense_Mutation_p.S953*	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	2028					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCACTGCTTTCAGGTATTTCG	0.393		NA											11	24					0	0	0	0
GPR81	27198	broad.mit.edu	37	12	123214171	123214171	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:123214171G>A	uc001ucz.2	-	1	959	c.716C>T	c.(715-717)GCT>GTT	p.A239V	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	239	Helical; Name=6; (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		ATAGAGTCTAGCAGACACGCT	0.572		NA											23	45					0	0	0	0
DDX55	57696	broad.mit.edu	37	12	124092179	124092179	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:124092179G>A	uc001ufi.2	+	5	395	c.371G>A	c.(370-372)GGA>GAA	p.G124E	DDX55_uc001ufh.2_5'UTR|DDX55_uc001ufj.1_Intron|DDX55_uc001ufk.2_5'UTR	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	124	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AGGAATCCTGGAGAAGATGTT	0.443		NA											42	129					0	0	0	0
IFT88	8100	broad.mit.edu	37	13	21172820	21172820	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:21172820G>T	uc001unh.2	+	12	1048	c.652G>T	c.(652-654)GTT>TTT	p.V218F	IFT88_uc001uni.2_Missense_Mutation_p.V209F|IFT88_uc001unj.2_Missense_Mutation_p.V208F|IFT88_uc010tcq.1_Missense_Mutation_p.V189F|IFT88_uc001unk.2_5'UTR	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	218	TPR 1.				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TCAGTATTCAGTTAATGAAAT	0.323		NA											9	81					2.81e-09	3.86e-09	1	0
SLC7A1	6541	broad.mit.edu	37	13	30091803	30091803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:30091803C>T	uc001uso.2	-	10	1804	c.1417G>A	c.(1417-1419)GAG>AAG	p.E473K		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	473	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAGAACATCTCTGCCTCTGGT	0.453		NA											10	88					0	0	0	0
SERPINE3	647174	broad.mit.edu	37	13	51922447	51922447	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:51922447G>C	uc001vfh.2	+	4	859	c.799G>C	c.(799-801)GAC>CAC	p.D267H	SERPINE3_uc010tgp.1_Missense_Mutation_p.D267H	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	nexin-related serine protease inhibitor	267					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CCGTGACAAAGACACCCCCCT	0.612		NA											16	22					0	0	0	0
MYCBP2	23077	broad.mit.edu	37	13	77667369	77667369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:77667369G>A	uc001vkf.2	-	60	10275	c.10184C>T	c.(10183-10185)TCA>TTA	p.S3395L	MYCBP2_uc010aev.2_Missense_Mutation_p.S2799L|MYCBP2_uc001vke.2_Missense_Mutation_p.S15L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGAGTTACTGATATATACGG	0.393		NA											5	80					0	0	0	0
KDELC1	79070	broad.mit.edu	37	13	103450951	103450951	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:103450951C>G	uc001vpq.3	-	1	454	c.70G>C	c.(70-72)GAA>CAA	p.E24Q	KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	24	Filamin.					endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGCTGCCTTTCTCCGCCGGTC	0.532		NA											20	28					0	0	0	0
C13orf16	121793	broad.mit.edu	37	13	111996452	111996452	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:111996452C>T	uc001vsa.2	+	6	567	c.438C>T	c.(436-438)GCC>GCT	p.A146A		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	hypothetical protein LOC121793	146	Cytoplasmic (Potential).					integral to membrane					0	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)			TAACAGAAGCCGAAGAAACTG	0.383		NA											17	27					0	0	0	0
SOX1	6656	broad.mit.edu	37	13	112722212	112722212	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr13:112722212G>A	uc001vsb.1	+	1	300	c.240G>A	c.(238-240)GAG>GAA	p.E80E		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	80	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		ACAACTCGGAGATCAGCAAGC	0.657		NA											22	23					0	0	0	0
JUB	84962	broad.mit.edu	37	14	23444286	23444286	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:23444286G>A	uc001whz.2	-	5	1643	c.1267C>T	c.(1267-1269)CAT>TAT	p.H423Y	JUB_uc001why.2_Missense_Mutation_p.H6Y	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	423	LIM zinc-binding 2.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0122)		CAGCCTGGATGATAGGACTTC	0.512		NA											21	52					0	0	0	0
CDH24	64403	broad.mit.edu	37	14	23518917	23518917	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:23518917C>G	uc001wil.2	-	11	1890	c.1630G>C	c.(1630-1632)GAT>CAT	p.D544H	CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.D506H	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	544	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCAACTTCATCTCTGTCCAGG	0.582		NA											8	16					0	0	0	0
PRKD1	5587	broad.mit.edu	37	14	30046490	30046490	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:30046490T>A	uc001wqh.2	-	18	2874	c.2693A>T	c.(2692-2694)GAA>GTA	p.E898V		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	898					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTCTGTTTCTTCAGTCTCAGG	0.493		NA											13	79					0	0	0	0
HEATR5A	25938	broad.mit.edu	37	14	31813139	31813139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:31813139C>T	uc001wrf.3	-	15	2389	c.2312G>A	c.(2311-2313)CGA>CAA	p.R771Q	HEATR5A_uc010ami.2_Missense_Mutation_p.R669Q|HEATR5A_uc001wrg.1_Missense_Mutation_p.R653Q|HEATR5A_uc010tpk.1_Missense_Mutation_p.R1064Q	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1058							binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GTTGACATGTCGTGGAGCAAA	0.428		NA											16	46					0	0	0	0
ATP6V1D	51382	broad.mit.edu	37	14	67815782	67815782	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:67815782C>G	uc001xjf.2	-	4	455	c.279G>C	c.(277-279)AAG>AAC	p.K93N	ATP6V1D_uc001xje.2_RNA	NM_015994	NP_057078	Q9Y5K8	VATD_HUMAN	H(+)-transporting two-sector ATPase	93					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)|lung(1)	2				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		TCGCTCGAATCTTCACTTGCG	0.368		NA											13	26					0	0	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68022580	68022580	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:68022580G>C	uc001xjl.1	+	3	307	c.165G>C	c.(163-165)CAG>CAC	p.Q55H		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	55	Potential.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGCAGAGCAGAGAGCAGAGA	0.607		NA											4	23					0	0	0	0
ATXN3	4287	broad.mit.edu	37	14	92549555	92549555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:92549555C>T	uc001yac.3	-	7	592	c.523G>A	c.(523-525)GAC>AAC	p.D175N	ATXN3_uc010aug.2_Missense_Mutation_p.D160N|ATXN3_uc001yad.3_Missense_Mutation_p.D120N|ATXN3_uc010auh.2_Missense_Mutation_p.D109N|ATXN3_uc001yae.3_Missense_Mutation_p.D77N|ATXN3_uc010twl.1_RNA	NM_004993	NP_004984	P54252	ATX3_HUMAN	ataxin 3 reference isoform	175	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AGGAGTTGGTCAGCTTCGCAA	0.373		NA											42	61					0	0	0	0
LGMN	5641	broad.mit.edu	37	14	93199105	93199105	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:93199105G>A	uc001yav.2	-	3	353	c.27C>T	c.(25-27)CTC>CTT	p.L9L	LGMN_uc001yat.2_Silent_p.L9L|LGMN_uc001yau.2_Silent_p.L9L|LGMN_uc001yaw.2_Silent_p.L9L|LGMN_uc010aul.2_5'UTR|LGMN_uc001yax.2_Silent_p.L9L|LGMN_uc001yay.2_Silent_p.L9L	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN	legumain preproprotein	9					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			skin(1)	1		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GGGCCACACTGAGGAATACAG	0.478		NA											22	65					0	0	0	0
KIAA1409	57578	broad.mit.edu	37	14	94083611	94083611	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr14:94083611G>A	uc001ybv.1	+	26	3803	c.3720G>A	c.(3718-3720)CGG>CGA	p.R1240R	KIAA1409_uc001ybs.1_Silent_p.R1218R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1395						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CTCACATCCGGCAGATGTGGT	0.498		NA											8	92					0	0	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890608	23890608	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:23890608G>T	uc001ywj.3	-	1	568	c.473C>A	c.(472-474)GCA>GAA	p.A158E		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGCTGACACTGCCTTGGGAGC	0.612		NA											4	40					0.00024832	0.000331919	1	0
DISP2	85455	broad.mit.edu	37	15	40662125	40662125	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:40662125C>T	uc001zlk.1	+	8	3901	c.3812C>T	c.(3811-3813)CCT>CTT	p.P1271L		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	1271					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCCACTCTCCTAAGGCCAAG	0.647		NA											15	42					0	0	0	0
LTK	4058	broad.mit.edu	37	15	41804949	41804949	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:41804949C>T	uc001zoa.3	-	3	493	c.315G>A	c.(313-315)CTG>CTA	p.L105L	LTK_uc001zob.3_Silent_p.L105L|LTK_uc010ucx.1_Silent_p.L105L|LTK_uc010bcg.2_Intron	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	105	Extracellular (Potential).				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCACGCCTCTCAGCTGCCCGG	0.697		NA								TSP Lung(18;0.14)			7	15					0	0	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65219178	65219178	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:65219178G>C	uc002aoa.2	+	6	579	c.550G>C	c.(550-552)GAC>CAC	p.D184H	ANKDD1A_uc002anx.1_Missense_Mutation_p.D180H|ANKDD1A_uc002any.2_Missense_Mutation_p.D93H|ANKDD1A_uc002anz.2_Missense_Mutation_p.D93H|ANKDD1A_uc002aob.2_Intron|ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.D93H	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	184	ANK 5.				signal transduction					ovary(1)	1						CTCTGGCTGTGACCACAATGT	0.617		NA											4	81					0	0	0	0
MTFMT	123263	broad.mit.edu	37	15	65319319	65319319	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:65319319G>C	uc002aof.3	-	2	295	c.269C>G	c.(268-270)TCA>TGA	p.S90*		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	90						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			ovary(2)	2					Tetrahydrofolic acid(DB00116)	TCCTTTTGGTGATGGGGAAGG	0.443		NA											12	43					0	0	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74372982	74372982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:74372982G>C	uc002axa.1	-	2	220	c.179C>G	c.(178-180)TCC>TGC	p.S60C		NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	golgi autoantigen, golgin subfamily a, 6	60	Potential.										0						GCAACCACCGGAAGTGGTTGT	0.463		NA											18	136					0	0	0	0
WDR90	197335	broad.mit.edu	37	16	712044	712044	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:712044G>A	uc002cii.1	+	32	4072	c.4018G>A	c.(4018-4020)GAT>AAT	p.D1340N	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.D867N|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.D514N|WDR90_uc002cin.1_5'UTR|WDR90_uc010uul.1_5'Flank|WDR90_uc002cio.1_5'Flank|WDR90_uc010bqx.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1340	WD 16.									ovary(1)	1		Hepatocellular(780;0.0218)				CTGGGAGGCGGATGACGGTGG	0.652		NA											10	30					0	0	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1143809	1143809	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:1143809G>A	uc010uuw.1	-	4	725	c.451C>T	c.(451-453)CTG>TTG	p.L151L		NM_207419	NP_997302	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	151	C1q.					collagen				skin(1)	1		Hepatocellular(780;0.00369)				CCCGCGGCCAGGTCGAAGGCG	0.667		NA											4	48					0	0	0	0
CASKIN1	57524	broad.mit.edu	37	16	2234836	2234836	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:2234836G>A	uc010bsg.1	-	14	1390	c.1358C>T	c.(1357-1359)GCC>GTC	p.A453V		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	453	CASK-binding (By similarity).				signal transduction	cytoplasm				skin(2)	2						GACCTGCCCGGCGTGGGCCAC	0.687		NA											7	29					0	0	0	0
BTBD12	84464	broad.mit.edu	37	16	3639184	3639184	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:3639184C>T	uc002cvp.2	-	12	5082	c.4455G>A	c.(4453-4455)CAG>CAA	p.Q1485Q		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1485	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						GCAATTTCCTCTGGGTAGTGC	0.647		NA						Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				69	139					0	0	0	0
UBN1	29855	broad.mit.edu	37	16	4924969	4924969	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:4924969G>A	uc002cyb.2	+	15	2897	c.2558G>A	c.(2557-2559)GGC>GAC	p.G853D	UBN1_uc010uxw.1_Missense_Mutation_p.G853D|UBN1_uc002cyc.2_Missense_Mutation_p.G853D	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	853					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						AAAGGCCAGGGCTTCCATCCC	0.592		NA											5	84					0	0	0	0
ERCC4	2072	broad.mit.edu	37	16	14015908	14015908	+	Silent	SNP	G	G	A	rs61760162		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:14015908G>A	uc002dce.2	+	2	237	c.228G>A	c.(226-228)CTG>CTA	p.L76L	ERCC4_uc010bva.2_Silent_p.L76L	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	76					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						TCAATCAGCTGAAGATAGAAG	0.353		NA	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				5	17					0	0	0	0
C16orf45	89927	broad.mit.edu	37	16	15661909	15661909	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:15661909C>T	uc002ddo.2	+	3	486	c.300C>T	c.(298-300)ATC>ATT	p.I100I	C16orf45_uc002ddp.2_Silent_p.I83I	NM_033201	NP_149978	Q96MC5	CP045_HUMAN	hypothetical protein LOC89927 isoform 1	100										ovary(1)	1						TGGTCGCCATCCCAGGTAACC	0.552		NA											6	14					0	0	0	0
CD19	930	broad.mit.edu	37	16	28944612	28944612	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:28944612C>G	uc002drs.2	+	4	679	c.617C>G	c.(616-618)TCT>TGT	p.S206C	uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.S206C	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	206	Extracellular (Potential).|Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						CCCCCTGACTCTGTGTCCAGG	0.612		NA											14	25					0	0	0	0
ZNF646	9726	broad.mit.edu	37	16	31092645	31092645	+	Missense_Mutation	SNP	C	C	T	rs80281572	byFrequency	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:31092645C>T	uc002eap.2	+	2	5289	c.5000C>T	c.(4999-5001)TCC>TTC	p.S1667F		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GCGGTGACGTCCATGGCGGCT	0.662		NA											11	50					0	0	0	0
NLRC5	84166	broad.mit.edu	37	16	57060491	57060491	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:57060491C>T	uc002ekk.1	+	6	1861	c.1636C>T	c.(1636-1638)CGC>TGC	p.R546C	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R351C|NLRC5_uc002ekl.2_Missense_Mutation_p.R351C|NLRC5_uc002ekm.2_Missense_Mutation_p.R351C|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	546					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CCTCCATTCCCGCTGGGTACA	0.612		NA											74	84					0	0	0	0
COG4	25839	broad.mit.edu	37	16	70515274	70515274	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:70515274G>C	uc002ezc.2	-	18	2234	c.2223C>G	c.(2221-2223)CTC>CTG	p.L741L	COG4_uc002eza.2_Silent_p.L78L|COG4_uc002ezb.2_Silent_p.L197L|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L720L|COG4_uc002eze.2_Silent_p.L435L	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	737	D domain.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				GCTCCAGATTGAGGATGGTGG	0.592		NA											6	166					0	0	0	0
ZFHX3	463	broad.mit.edu	37	16	72992559	72992559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:72992559G>A	uc002fck.2	-	2	2159	c.1486C>T	c.(1486-1488)CCA>TCA	p.P496S	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	496					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				AACTCGCTTGGAAAGAGTCCT	0.323		NA											32	48					0	0	0	0
KARS	3735	broad.mit.edu	37	16	75665700	75665700	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:75665700C>T	uc002feq.2	-	8	1017	c.969G>A	c.(967-969)CGG>CGA	p.R323R	KARS_uc002fer.2_Silent_p.R351R|KARS_uc002fes.2_Silent_p.R167R	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	323	ATP.				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)	TCCCCTCATTCCGGAACTGGC	0.463		NA											72	100					0	0	0	0
PLCG2	5336	broad.mit.edu	37	16	81968079	81968079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr16:81968079G>A	uc002fgt.2	+	26	2937	c.2785G>A	c.(2785-2787)GAG>AAG	p.E929K		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	929					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						CATCGCCATCGAGCTCTCTGA	0.478		NA											18	30					0	0	0	0
PRPF8	10594	broad.mit.edu	37	17	1582167	1582167	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:1582167C>G	uc002fte.2	-	12	1722	c.1608G>C	c.(1606-1608)AAG>AAC	p.K536N		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	536						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AACGAGATTTCTTTCTTTCCT	0.468		NA											6	43					0	0	0	0
PRPF8	10594	broad.mit.edu	37	17	1582626	1582626	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:1582626C>G	uc002fte.2	-	10	1482	c.1368G>C	c.(1366-1368)CTG>CTC	p.L456L		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	456						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCAGGGCATTCAGCACATAGT	0.542		NA											8	66					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:7577085C>T	uc002gim.2	-	8	1047	c.853G>A	c.(853-855)GAG>AAG	p.E285K	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	285	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	23					0	0	0	0
MYH10	4628	broad.mit.edu	37	17	8422110	8422110	+	Splice_Site	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:8422110C>G	uc002gll.2	-	19	2347	c.2251_splice	c.e19-1	p.I751_splice	MYH10_uc002glm.2_Splice_Site_p.I782_splice|MYH10_uc010cnx.2_Splice_Site_p.I760_splice	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle						actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						AAGCCCGGATCTAAGAGAGAA	0.353		NA											3	46					0	0	0	0
MYH2	4620	broad.mit.edu	37	17	10442663	10442663	+	Silent	SNP	G	G	A	rs151000841	by1000genomes	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:10442663G>A	uc010coi.2	-	14	1403	c.1275C>T	c.(1273-1275)AAC>AAT	p.N425N	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.N425N|MYH2_uc010coj.2_Silent_p.N425N	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	425	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CACCTACTGCGTTGGACACCT	0.468		NA											18	118					0	0	0	0
ATPAF2	91647	broad.mit.edu	37	17	17942267	17942267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:17942267C>T	uc002gse.1	-	1	214	c.61G>A	c.(61-63)GGT>AGT	p.G21S	C17orf39_uc002gsg.1_5'Flank|ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA|ATPAF2_uc010vxf.1_Missense_Mutation_p.G21S	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly	21					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding				0	all_neural(463;0.228)					CTGGGGCCACCCGCCGGCCGA	0.667		NA											12	7					0	0	0	0
MYO15A	51168	broad.mit.edu	37	17	18039062	18039062	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:18039062G>A	uc010vxh.1	+	12	4858	c.4520G>A	c.(4519-4521)CGA>CAA	p.R1507Q		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1507	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GTGAGTGCCCGAGAGATCCAG	0.522		NA											7	24					0	0	0	0
TTC25	83538	broad.mit.edu	37	17	40087031	40087031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:40087031G>A	uc002hyj.3	+	1	144	c.55G>A	c.(55-57)GAA>AAA	p.E19K	TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.E19K	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25	19	TPR 1.					cytoplasm	protein binding			ovary(1)	1		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTATATGGCCGAAGGCGAGCG	0.542		NA											5	8					0	0	0	0
BRCA1	672	broad.mit.edu	37	17	41246860	41246860	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:41246860C>G	uc002icq.2	-	10	920	c.688G>C	c.(688-690)GAG>CAG	p.E230Q	BRCA1_uc010whp.1_Missense_Mutation_p.E183Q|BRCA1_uc010whl.1_Missense_Mutation_p.E230Q|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E159Q|BRCA1_uc002icu.2_Missense_Mutation_p.E230Q|BRCA1_uc010cyx.2_Missense_Mutation_p.E183Q|BRCA1_uc002ict.2_Missense_Mutation_p.E230Q|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.E62Q|BRCA1_uc002idc.1_Missense_Mutation_p.E229Q|BRCA1_uc010whr.1_Missense_Mutation_p.E183Q|BRCA1_uc002idd.2_Missense_Mutation_p.E230Q|BRCA1_uc002ide.1_Missense_Mutation_p.E61Q|BRCA1_uc010cyy.1_Missense_Mutation_p.E230Q|BRCA1_uc010whs.1_Missense_Mutation_p.E230Q|BRCA1_uc010cyz.2_Missense_Mutation_p.E183Q|BRCA1_uc010cza.2_Missense_Mutation_p.E204Q|BRCA1_uc010wht.1_5'UTR	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	230					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACATCCGTCTCAGAAAATTCA	0.368		NA	D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			9	15					0	0	0	0
SP6	80320	broad.mit.edu	37	17	45924944	45924944	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:45924944G>A	uc002img.1	-	2	1184	c.852C>T	c.(850-852)TTC>TTT	p.F284F	SP6_uc002imh.1_Silent_p.F284F	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Sp6 transcription factor	284	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						AGTTGCACACGAAGGGACGGT	0.652		NA											14	35					0	0	0	0
HOXB5	3215	broad.mit.edu	37	17	46670537	46670537	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:46670537C>T	uc002inr.2	-	1	567	c.508G>A	c.(508-510)GAG>AAG	p.E170K	HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	170						nucleus	sequence-specific DNA binding				0						GTCTGCCCCTCGGGCGCGGCT	0.607		NA											16	45					0	0	0	0
EPN3	55040	broad.mit.edu	37	17	48615544	48615544	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:48615544G>A	uc002ira.3	+	3	1102	c.667G>A	c.(667-669)GAG>AAG	p.E223K	EPN3_uc010wms.1_Missense_Mutation_p.E278K|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Missense_Mutation_p.E223K	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	223	UIM 1.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CATGAGCCGTGAGGAGGCAGA	0.667		NA											7	24					0	0	0	0
HELZ	9931	broad.mit.edu	37	17	65105306	65105306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:65105306C>T	uc010wqk.1	-	29	4605	c.4418G>A	c.(4417-4419)GGC>GAC	p.G1473D	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.G1472D|HELZ_uc010der.2_Missense_Mutation_p.G16D	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AAGAATGGGGCCGGGTTGTGC	0.532		NA											5	69					0	0	0	0
BTBD17	388419	broad.mit.edu	37	17	72353305	72353305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:72353305C>T	uc002jkn.2	-	3	928	c.928G>A	c.(928-930)GCC>ACC	p.A310T		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	310						extracellular region					0						GGCAGGAAGGCGCTGCCGTTG	0.716		NA											5	11					0	0	0	0
RAB37	326624	broad.mit.edu	37	17	72741479	72741479	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:72741479G>A	uc002jlk.2	+	9	657	c.601G>A	c.(601-603)GAG>AAG	p.E201K	RAB37_uc002jlc.2_3'UTR|RAB37_uc010dfu.2_Missense_Mutation_p.E194K|RAB37_uc002jld.2_3'UTR|RAB37_uc010wrb.1_Missense_Mutation_p.E169K|RAB37_uc010wrc.1_Missense_Mutation_p.E206K|RAB37_uc010wrd.1_Missense_Mutation_p.E169K|RAB37_uc010wre.1_Missense_Mutation_p.E164K|RAB37_uc002jll.3_RNA	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family isoform 2	201					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			ovary(1)	1						TCAGGCGGATGAGCCCAGCTT	0.507		NA									OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	49					0	0	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136166	74136166	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:74136166A>C	uc002jqw.2	-	1	401	c.311T>G	c.(310-312)CTG>CGG	p.L104R	FOXJ1_uc002jqx.2_Missense_Mutation_p.L104R|uc002jqy.1_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	104					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGGGCCTGCAGCCCCGGGGG	0.736		NA											4	24					0	0	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043984	77043984	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:77043984C>G	uc002jwp.2	+	4	1000	c.660C>G	c.(658-660)ATC>ATG	p.I220M	C1QTNF1_uc002jwq.2_Missense_Mutation_p.I138M|C1QTNF1_uc002jwr.3_Missense_Mutation_p.I230M|C1QTNF1_uc002jws.2_Missense_Mutation_p.I220M|C1QTNF1_uc002jwt.2_Missense_Mutation_p.I318M	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	220	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AGGTGGTGATCTTGTTCGCGC	0.597		NA											29	54					0	0	0	0
COLEC12	81035	broad.mit.edu	37	18	346549	346549	+	Missense_Mutation	SNP	C	C	T	rs140999458		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:346549C>T	uc002kkm.2	-	5	1288	c.1073G>A	c.(1072-1074)CGG>CAG	p.R358Q		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	358	Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGTCAGCGTCCGCAGGTGGTG	0.473		NA											18	46					0	0	0	0
LAMA3	3909	broad.mit.edu	37	18	21293932	21293932	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:21293932C>G	uc002kuq.2	+	2	429	c.343C>G	c.(343-345)CCT>GCT	p.P115A	LAMA3_uc010dlv.1_Missense_Mutation_p.P115A|LAMA3_uc002kur.2_Missense_Mutation_p.P115A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	115	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAAGCACATCCTGTCACCAA	0.438		NA											10	26					0	0	0	0
DCC	1630	broad.mit.edu	37	18	50278591	50278591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:50278591G>A	uc002lfe.1	+	2	846	c.259G>A	c.(259-261)GAA>AAA	p.E87K	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	87	Extracellular (Potential).|Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGGAATGGATGAAAGGAAGCA	0.498		NA											25	58					0	0	0	0
WDR7	23335	broad.mit.edu	37	18	54483274	54483274	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:54483274C>G	uc002lgk.1	+	20	3414	c.3203C>G	c.(3202-3204)TCA>TGA	p.S1068*	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Nonsense_Mutation_p.S1035*	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1068										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		GGAGTCACATCAGAAGCCGCG	0.418		NA											12	21					0	0	0	0
NFATC1	4772	broad.mit.edu	37	18	77193713	77193713	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr18:77193713C>T	uc010xfg.1	+	3	1814	c.1361C>T	c.(1360-1362)TCG>TTG	p.S454L	NFATC1_uc002lnc.1_Missense_Mutation_p.S454L|NFATC1_uc010xff.1_Missense_Mutation_p.S454L|NFATC1_uc002lnd.2_Missense_Mutation_p.S454L|NFATC1_uc002lne.2_5'UTR|NFATC1_uc010xfh.1_Missense_Mutation_p.S454L|NFATC1_uc010xfi.1_Missense_Mutation_p.S441L|NFATC1_uc010xfj.1_5'UTR|NFATC1_uc002lnf.2_Missense_Mutation_p.S441L|NFATC1_uc002lng.2_Missense_Mutation_p.S441L|NFATC1_uc010xfk.1_Missense_Mutation_p.S441L	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	454	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GTGAAGGCGTCGGCCGGAGGA	0.622		NA											29	72					0	0	0	0
S1PR4	8698	broad.mit.edu	37	19	3179318	3179318	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:3179318G>A	uc002lxg.2	+	1	553	c.528G>A	c.(526-528)CTG>CTA	p.L176L		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	176	Helical; Name=4; (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2						CCGCGCTGCTGGGGATGCTGC	0.667		NA											12	134					0	0	0	0
C3	718	broad.mit.edu	37	19	6684804	6684804	+	Silent	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:6684804T>C	uc002mfm.2	-	31	4073	c.4011A>G	c.(4009-4011)AAA>AAG	p.K1337K	C3_uc002mfl.2_Silent_p.K73K	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1337					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCCTTGGCCTTTTCCTTCAG	0.537		NA											3	137					0	0	0	0
EMR1	2015	broad.mit.edu	37	19	6916361	6916361	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:6916361G>C	uc002mfw.2	+	12	1440	c.1402G>C	c.(1402-1404)GAG>CAG	p.E468Q	EMR1_uc010dvc.2_Missense_Mutation_p.E468Q|EMR1_uc010dvb.2_Missense_Mutation_p.E416Q|EMR1_uc010xji.1_Missense_Mutation_p.E327Q|EMR1_uc010xjj.1_Missense_Mutation_p.E291Q	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	468	Ser/Thr-rich.|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					TTCCACAATTGAGGAATCTGA	0.348		NA											38	81					0	0	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593497	7593497	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:7593497C>T	uc002mgo.2	+	8	1017	c.892C>T	c.(892-894)CGG>TGG	p.R298W	MCOLN1_uc002mgp.2_Missense_Mutation_p.R263W	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	298	Helical; (Potential).				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1						CAACAGCTTCCGGCTCCTGTT	0.632		NA											10	30					0	0	0	0
NOTCH3	4854	broad.mit.edu	37	19	15291045	15291045	+	Silent	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:15291045A>G	uc002nan.2	-	20	3241	c.3165T>C	c.(3163-3165)TGT>TGC	p.C1055C	NOTCH3_uc002nao.1_Silent_p.C1003C	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1055	Extracellular (Potential).|EGF-like 27.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACCCGCCTGACACAGCTGCT	0.597		NA											3	44					0	0	0	0
DDA1	79016	broad.mit.edu	37	19	17430407	17430407	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:17430407C>G	uc002ngd.2	+	5	378	c.251C>G	c.(250-252)TCC>TGC	p.S84C	DDA1_uc002nge.2_Silent_p.L22L	NM_024050	NP_076955	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	84										ovary(1)	1						GGCGAGAGCTCCGCACCTCCC	0.587		NA											3	9					0	0	0	0
SLC27A1	376497	broad.mit.edu	37	19	17615340	17615340	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:17615340C>T	uc002ngu.1	+	12	1910	c.1860C>T	c.(1858-1860)TTC>TTT	p.F620F	SLC27A1_uc010xpp.1_Silent_p.F441F|SLC27A1_uc002ngv.1_Silent_p.F222F	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	620	Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						GGCTCTTCTTCCTGGACCTGA	0.597		NA											24	65					0	0	0	0
PDE4C	5143	broad.mit.edu	37	19	18324232	18324232	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:18324232C>G	uc010xqc.1	-	13	2034	c.1554G>C	c.(1552-1554)AAG>AAC	p.K518N	PDE4C_uc002nik.3_Missense_Mutation_p.K518N|PDE4C_uc002nil.3_Missense_Mutation_p.K518N|PDE4C_uc002nif.3_Missense_Mutation_p.K287N|PDE4C_uc002nig.3_Missense_Mutation_p.K233N|PDE4C_uc002nih.3_Missense_Mutation_p.K288N|PDE4C_uc010ebk.2_Missense_Mutation_p.K412N|PDE4C_uc002nii.3_Missense_Mutation_p.K486N|PDE4C_uc010ebl.2_Missense_Mutation_p.K232N	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	518					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	TTGTCACCTTCTTGGTCTCCA	0.542		NA											15	19					0	0	0	0
LSR	51599	broad.mit.edu	37	19	35739867	35739867	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:35739867C>G	uc002nyl.2	+	1	309	c.86C>G	c.(85-87)CCG>CGG	p.P29R	LSR_uc002nym.2_Missense_Mutation_p.P29R|LSR_uc002nyn.2_Missense_Mutation_p.P29R|LSR_uc002nyo.2_Missense_Mutation_p.P29R|LSR_uc010xsr.1_Missense_Mutation_p.P29R|LSR_uc002nyp.2_Missense_Mutation_p.P29R	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	29	Extracellular (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGGTGCGCGCCGCGCCCCCTA	0.662		NA											4	27					0	0	0	0
KIRREL2	84063	broad.mit.edu	37	19	36352524	36352524	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:36352524C>T	uc002ocb.3	+	10	1483	c.1271C>T	c.(1270-1272)TCT>TTT	p.S424F	KIRREL2_uc002obz.3_Missense_Mutation_p.S424F|KIRREL2_uc002oca.3_Missense_Mutation_p.S374F|KIRREL2_uc002occ.3_Missense_Mutation_p.S371F|KIRREL2_uc002ocd.3_Missense_Mutation_p.S421F	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	424	Ig-like C2-type 5.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTTTTCGCCTCTCCCGCCCCA	0.642		NA											38	104					0	0	0	0
ZFP14	57677	broad.mit.edu	37	19	36853091	36853091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:36853091C>T	uc002odx.1	-	2	152	c.59G>A	c.(58-60)TGG>TAG	p.W20*	ZFP14_uc010xtd.1_Nonsense_Mutation_p.W20*|ZFP14_uc010eex.1_Nonsense_Mutation_p.W20*	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					CAGGAATTCCCATTCTTCCTG	0.378		NA											5	49					0	0	0	0
ZNF540	163255	broad.mit.edu	37	19	38103198	38103198	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:38103198C>T	uc002ogq.2	+	5	1349	c.1017C>T	c.(1015-1017)TGC>TGT	p.C339C	ZNF540_uc002ogu.2_Silent_p.C339C|ZNF540_uc010efq.2_Silent_p.C307C	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	339	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTAGTGTATGCGGACAACTTA	0.353		NA											5	58					0	0	0	0
RYR1	6261	broad.mit.edu	37	19	39017636	39017636	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:39017636G>C	uc002oit.2	+	72	10760	c.10630G>C	c.(10630-10632)GAC>CAC	p.D3544H	RYR1_uc002oiu.2_Missense_Mutation_p.D3539H|RYR1_uc002oiv.1_Missense_Mutation_p.D459H|RYR1_uc010xuf.1_Missense_Mutation_p.D464H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3544					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCCCAGAAAGACACAGATGA	0.542		NA											10	43					0	0	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596383	41596383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:41596383C>T	uc002opt.2	+	4	577	c.568C>T	c.(568-570)CGC>TGC	p.R190C		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	190					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	CTTTGGGGACCGCTTTGACTA	0.567		NA											30	74					0	0	0	0
ATP1A3	478	broad.mit.edu	37	19	42485787	42485787	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:42485787C>T	uc002osg.2	-	11	1458	c.1304G>A	c.(1303-1305)AGG>AAG	p.R435K	ATP1A3_uc010xwf.1_Missense_Mutation_p.R446K|ATP1A3_uc010xwg.1_Missense_Mutation_p.R405K|ATP1A3_uc010xwh.1_Missense_Mutation_p.R448K|ATP1A3_uc002osh.2_Missense_Mutation_p.R435K	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	435	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						AGCCACATCCCTCTGCAAGGA	0.592		NA											5	32					0	0	0	0
CIC	23152	broad.mit.edu	37	19	42794752	42794752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:42794752C>T	uc002otf.1	+	10	1872	c.1832C>T	c.(1831-1833)CCA>CTA	p.P611L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	611	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GGCCTGGAGCCACCAGGCCCC	0.657		NA	T	DUX4	soft tissue sarcoma								8	103					0	0	0	0
ZNF155	7711	broad.mit.edu	37	19	44500612	44500612	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:44500612G>C	uc002oxy.1	+	5	808	c.603G>C	c.(601-603)GAG>GAC	p.E201D	ZNF155_uc002oxz.1_Missense_Mutation_p.E201D|ZNF155_uc010xwt.1_Missense_Mutation_p.E212D	NM_003445	NP_003436	Q12901	ZN155_HUMAN	zinc finger protein 155	201						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Prostate(69;0.0352)				ACGTGGGAGAGAAACTCTTTA	0.413		NA											35	135					0	0	0	0
CD3EAP	10849	broad.mit.edu	37	19	45910389	45910389	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:45910389G>A	uc002pbq.1	+	2	548	c.60G>A	c.(58-60)GCG>GCA	p.A20A	PPP1R13L_uc002pbn.2_5'Flank|PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Silent_p.A22A	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	20					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		ACTTTACCGCGAAGCCCCCAG	0.612		NA											30	76					0	0	0	0
PRRG2	5639	broad.mit.edu	37	19	50087180	50087180	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:50087180G>T	uc002pon.3	+	4	437	c.272G>T	c.(271-273)TGG>TTG	p.W91L	PRRG2_uc010yaz.1_Missense_Mutation_p.W68L	NM_000951	NP_000942	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	91	Gla.|Extracellular (Potential).					extracellular region|integral to plasma membrane	calcium ion binding			skin(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GAGCGCTTTTGGGAGAGCTAC	0.527		NA											6	82					0.00198382	0.00263853	1	0
ZNF836	162962	broad.mit.edu	37	19	52659522	52659522	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:52659522A>G	uc010ydi.1	-	5	1788	c.1414T>C	c.(1414-1416)TGC>CGC	p.C472R	ZNF836_uc010ydj.1_Missense_Mutation_p.C472R	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	472	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATTCATTGCATTTGTAAGGT	0.418		NA											11	131					0	0	0	0
ZNF415	55786	broad.mit.edu	37	19	53612343	53612343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:53612343G>A	uc002qax.2	-	7	1448	c.1099C>T	c.(1099-1101)CAG>TAG	p.Q367*	ZNF415_uc002qat.2_Nonsense_Mutation_p.Q331*|ZNF415_uc002qaw.2_Nonsense_Mutation_p.Q319*|ZNF415_uc010yds.1_Nonsense_Mutation_p.Q319*|ZNF415_uc010ydt.1_Nonsense_Mutation_p.Q319*|ZNF415_uc002qau.2_Nonsense_Mutation_p.Q306*|ZNF415_uc002qav.2_Nonsense_Mutation_p.Q331*|ZNF415_uc002qba.2_Nonsense_Mutation_p.Q89*|ZNF415_uc002qay.2_Nonsense_Mutation_p.Q306*|ZNF415_uc002qaz.2_Nonsense_Mutation_p.Q367*	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	367	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		TGAGTTTTCTGATGTAGTGCA	0.418		NA											21	44					0	0	0	0
ZNF582	147948	broad.mit.edu	37	19	56896256	56896256	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:56896256C>G	uc002qmz.1	-	5	689	c.530G>C	c.(529-531)AGA>ACA	p.R177T	ZNF582_uc002qmy.2_Missense_Mutation_p.R208T	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	177	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GAAGTCTTTTCTACATTTATT	0.328		NA											27	47					0	0	0	0
ZNF274	10782	broad.mit.edu	37	19	58721350	58721350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:58721350G>A	uc002qrq.1	+	8	1222	c.763G>A	c.(763-765)GAG>AAG	p.E255K	ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_RNA|ZNF274_uc002qrr.1_Missense_Mutation_p.E223K|ZNF274_uc002qrs.1_Missense_Mutation_p.E150K|ZNF274_uc010eum.1_Missense_Mutation_p.E14K	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	255					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ACAACCTGCCGAGGGCACCAC	0.637		NA											10	27					0	0	0	0
ZNF584	201514	broad.mit.edu	37	19	58928446	58928446	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:58928446C>T	uc002qsp.2	+	4	1013	c.561C>T	c.(559-561)TTC>TTT	p.F187F	ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Silent_p.F142F|ZNF584_uc010yib.1_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		AGAGACCCTTCAGATGCCCAA	0.468		NA											10	31					0	0	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967529	58967529	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr19:58967529C>T	uc002qsv.1	+	4	1325	c.1218C>T	c.(1216-1218)TTC>TTT	p.F406F	ZNF324B_uc002qsu.1_Silent_p.F396F|ZNF324B_uc010euq.1_Silent_p.F406F	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	406	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTGCTGCCTTCAGCCAGGGCT	0.662		NA											5	58					0	0	0	0
KIF3C	3797	broad.mit.edu	37	2	26204430	26204430	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:26204430G>C	uc002rgu.2	-	1	1014	c.357C>G	c.(355-357)GTC>GTG	p.V119V	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Silent_p.V119V	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	119	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTCGGGATGACCCCGCGCA	0.587		NA											23	65					0	0	0	0
C2orf16	84226	broad.mit.edu	37	2	27804899	27804899	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:27804899G>C	uc002rkz.3	+	1	5511	c.5460G>C	c.(5458-5460)AGG>AGC	p.R1820S	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1820	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					TCTTGGAGAGGAGCCATCGCA	0.542		NA											38	93					0	0	0	0
BIRC6	57448	broad.mit.edu	37	2	32667175	32667175	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:32667175G>A	uc010ezu.2	+	18	4121	c.3987G>A	c.(3985-3987)GAG>GAA	p.E1329E		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1329					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AATTTCATGAGAAGCTTGTTA	0.378		NA											16	59					0	0	0	0
SFRS7	6432	broad.mit.edu	37	2	38977291	38977291	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:38977291C>G	uc002rqz.2	-	2	312	c.74G>C	c.(73-75)GGA>GCA	p.G25A	SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.G25A|GEMIN6_uc002rrb.2_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	splicing factor, arginine/serine-rich 7	25	RRM.				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)				TTCTAACTCTCCTTTGCCAGC	0.423		NA											6	72					0	0	0	0
MCFD2	90411	broad.mit.edu	37	2	47136232	47136232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:47136232C>T	uc002rvk.2	-	2	173	c.79G>A	c.(79-81)GAG>AAG	p.E27K	MCFD2_uc002rvl.2_Intron|MCFD2_uc010fba.2_Missense_Mutation_p.E25K|MCFD2_uc010yof.1_Intron	NM_139279	NP_644808	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	27					post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	calcium ion binding			central_nervous_system(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	GCAGGCTCCTCAGCCCTGGCG	0.592		NA											13	40					0	0	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856684	54856684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:54856684G>T	uc002rxu.2	+	14	2662	c.2413G>T	c.(2413-2415)GAA>TAA	p.E805*	SPTBN1_uc002rxv.1_Nonsense_Mutation_p.E805*|SPTBN1_uc002rxx.2_Nonsense_Mutation_p.E792*	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	805	Spectrin 5.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CACGCTGCACGAACAAGCCAG	0.607		NA											18	55					1.68e-08	2.3e-08	1	0
C2orf63	130162	broad.mit.edu	37	2	55403114	55403114	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:55403114C>G	uc002ryi.2	-	13	1919	c.1573G>C	c.(1573-1575)GAA>CAA	p.E525Q	C2orf63_uc002ryh.2_Missense_Mutation_p.E76Q|C2orf63_uc002ryj.2_Missense_Mutation_p.E403Q	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	hypothetical protein LOC130162 isoform 1	525							binding			ovary(2)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			ATAAGACTTTCTACTGCATCT	0.299		NA											9	27					0	0	0	0
PROKR1	10887	broad.mit.edu	37	2	68882429	68882429	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:68882429C>T	uc010yqj.1	+	2	903	c.903C>T	c.(901-903)TAC>TAT	p.Y301Y	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	301	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						CGCCCTTCTACGGCTTCACCA	0.587		NA											18	45					0	0	0	0
ZNF638	27332	broad.mit.edu	37	2	71576307	71576307	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:71576307C>G	uc002shx.2	+	2	542	c.223C>G	c.(223-225)CAA>GAA	p.Q75E	ZNF638_uc010fec.2_Missense_Mutation_p.Q181E|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.Q75E|ZNF638_uc002shy.2_Missense_Mutation_p.Q75E|ZNF638_uc002shz.2_Missense_Mutation_p.Q75E|ZNF638_uc002sia.2_Missense_Mutation_p.Q75E|ZNF638_uc002sib.1_Missense_Mutation_p.Q75E	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	75					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						TCAGGTAACTCAACACAGAAC	0.463		NA											3	95					0	0	0	0
ALMS1	7840	broad.mit.edu	37	2	73676052	73676052	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:73676052A>G	uc002sje.1	+	10	2512	c.2401A>G	c.(2401-2403)AAG>GAG	p.K801E	ALMS1_uc002sjf.1_Missense_Mutation_p.K757E|ALMS1_uc002sjg.2_Missense_Mutation_p.K187E|ALMS1_uc002sjh.1_Missense_Mutation_p.K187E	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	799	6.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AGCTGACCAGAAGACTGGCCT	0.488		NA											54	119					0	0	0	0
TEKT4	150483	broad.mit.edu	37	2	95539303	95539303	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:95539303G>C	uc002stw.1	+	2	630	c.537G>C	c.(535-537)AAG>AAC	p.K179N	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	179	Potential.				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						AGCTGCTGAAGAGAACCATCA	0.612		NA											9	36					0	0	0	0
CNNM3	26505	broad.mit.edu	37	2	97483071	97483071	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:97483071G>C	uc002swy.2	+	1	1081	c.1057G>C	c.(1057-1059)GAG>CAG	p.E353Q	CNNM3_uc002swz.2_Missense_Mutation_p.E353Q	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	353	CBS 1.				ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						CCCGGTGTACGAGGAGGAGCG	0.617		NA											21	43					0	0	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460077	107460077	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:107460077T>G	uc002tdq.2	-	2	476	c.357A>C	c.(355-357)AAA>AAC	p.K119N	ST6GAL2_uc002tdr.2_Missense_Mutation_p.K119N|ST6GAL2_uc002tds.3_Missense_Mutation_p.K119N	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	119	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CACTTTGAGATTTTCTCCCCA	0.532		NA											13	130					0	0	0	0
IL1F8	27177	broad.mit.edu	37	2	113780314	113780314	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:113780314G>A	uc002tiq.1	-	6	536	c.432C>T	c.(430-432)CTC>CTT	p.L144L		NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	interleukin 1 family, member 8 isoform 1	144					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			ovary(1)	1						CCTTCTTCCTGAGATGGTGAT	0.433		NA											30	53					0	0	0	0
PSD4	23550	broad.mit.edu	37	2	113940969	113940969	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:113940969C>T	uc002tjc.2	+	2	1119	c.936C>T	c.(934-936)ATC>ATT	p.I312I	PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Silent_p.I311I|PSD4_uc002tjf.2_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	312					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GCGCTGCTATCAGTGGGCATT	0.617		NA											9	30					0	0	0	0
TMEM37	140738	broad.mit.edu	37	2	120194890	120194890	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:120194890C>G	uc002tly.2	+	2	481	c.447C>G	c.(445-447)CTC>CTG	p.L149L		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	149	Helical; (Potential).					integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)	1						TGATCCTCCTCAGGAACCAAG	0.547		NA											80	214					0	0	0	0
NEB	4703	broad.mit.edu	37	2	152512709	152512709	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:152512709C>T	uc010fnx.2	-	49	6644	c.6453G>A	c.(6451-6453)ATG>ATA	p.M2151I		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2151	Nebulin 57.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTCAATGTTCATTGCATCTG	0.468		NA											98	280					0	0	0	0
TANK	10010	broad.mit.edu	37	2	162060088	162060088	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:162060088C>T	uc002ubr.1	+	3	348	c.190C>T	c.(190-192)CTT>TTT	p.L64F	TANK_uc002ubq.1_Missense_Mutation_p.L64F|TANK_uc002ubs.2_Missense_Mutation_p.L64F	NM_004180	NP_004171	Q92844	TANK_HUMAN	TRAF interacting protein TANK isoform a	64						cytosol	metal ion binding|protein binding			ovary(1)	1						TCAGTTACTTCTTGTGAATTC	0.343		NA											15	29					0	0	0	0
TBR1	10716	broad.mit.edu	37	2	162273175	162273175	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:162273175C>T	uc002ubw.1	+	1	556	c.254C>T	c.(253-255)CCT>CTT	p.P85L	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	85						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						AAACTCTCTCCTGTCTTGGAC	0.522		NA											11	142					0	0	0	0
KCNH7	90134	broad.mit.edu	37	2	163693250	163693250	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:163693250C>T	uc002uch.1	-	2	316	c.104G>A	c.(103-105)AGA>AAA	p.R35K	KCNH7_uc002uci.2_Missense_Mutation_p.R35K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	35	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	GTTCTGCACTCTGGCATTTGC	0.403		NA											10	16					0	0	0	0
KBTBD10	10324	broad.mit.edu	37	2	170366343	170366343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:170366343C>T	uc002ueu.1	+	1	132	c.55C>T	c.(55-57)CTT>TTT	p.L19F	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	19					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						ATCCACCCTTCTTCAGGATGG	0.468		NA											34	55					0	0	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:178098810C>T	uc002ulh.3	-	2	790	c.235G>A	c.(235-237)GAG>AAG	p.E79K	NFE2L2_uc002ulg.3_Missense_Mutation_p.E63K|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63K|NFE2L2_uc002uli.3_Missense_Mutation_p.E63K|NFE2L2_uc010fra.2_Missense_Mutation_p.E63K|NFE2L2_uc010frb.2_Missense_Mutation_p.E63K	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443		NA	Mis		NSCLC|HNSCC					HNSCC(56;0.16)			6	59					0	0	0	0
SATB2	23314	broad.mit.edu	37	2	200137185	200137185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:200137185G>A	uc002uuy.1	-	11	2768	c.1951C>T	c.(1951-1953)CAG>TAG	p.Q651*	SATB2_uc010fsq.1_Nonsense_Mutation_p.Q533*|SATB2_uc002uuz.1_Nonsense_Mutation_p.Q651*|SATB2_uc002uva.1_Nonsense_Mutation_p.Q651*	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	651	Homeobox.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGATCCAGCTGAGCCGAAAGA	0.542		NA											26	57					0	0	0	0
CASP8	841	broad.mit.edu	37	2	202151270	202151270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:202151270C>T	uc002uxr.1	+	10	1602	c.1393C>T	c.(1393-1395)CAG>TAG	p.Q465*	CASP8_uc002uxp.1_Nonsense_Mutation_p.Q482*|CASP8_uc002uxq.1_Nonsense_Mutation_p.Q450*|CASP8_uc002uxt.1_Nonsense_Mutation_p.Q524*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.Q450*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.Q381*	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	465					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						ACAGATGCCTCAGCCTACTTT	0.313		NA								HNSCC(4;0.00038)			10	19					0	0	0	0
INO80D	54891	broad.mit.edu	37	2	206869474	206869474	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:206869474G>C	uc002vaz.3	-	11	3107	c.2702C>G	c.(2701-2703)TCT>TGT	p.S901C		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GCTAAATGGAGAGGGGTCTCC	0.567		NA											20	39					0	0	0	0
2-Sep	4735	broad.mit.edu	37	2	242282467	242282467	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:242282467G>A	uc002wbc.2	+	9	1076	c.655G>A	c.(655-657)GAT>AAT	p.D219N	SEPT2_uc002wbd.2_Missense_Mutation_p.D219N|SEPT2_uc002wbf.2_Missense_Mutation_p.D219N|SEPT2_uc002wbg.2_Missense_Mutation_p.D219N|SEPT2_uc002wbh.2_Missense_Mutation_p.D229N|SEPT2_uc010zop.1_Missense_Mutation_p.D254N	NM_001008491	NP_001008491	Q15019	SEPT2_HUMAN	septin 2	219					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(1)	1		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TGCAGAATCAGATGAAGATGA	0.358		NA											45	107					0	0	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20453517	20453517	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:20453517G>A	uc002wrz.2	-	37	5594	c.5451C>T	c.(5449-5451)AAC>AAT	p.N1817N	RALGAPA2_uc010gcx.2_Silent_p.N1521N|RALGAPA2_uc010zsg.1_Silent_p.N1265N|RALGAPA2_uc002wsa.1_Silent_p.N589N	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1817	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						CCCTGCTGGCGTTGATGCACG	0.468		NA											15	36					0	0	0	0
CST1	1469	broad.mit.edu	37	20	23729656	23729656	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:23729656C>G	uc002wtp.2	-	2	410	c.339G>C	c.(337-339)CAG>CAC	p.Q113H		NM_001898	NP_001889	P01037	CYTN_HUMAN	cystatin SN precursor	113						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Lung NSC(19;0.0676)|all_lung(19;0.148)					AACGTACCTTCTGCAGTTCTG	0.532		NA											8	165					0	0	0	0
ACSS1	84532	broad.mit.edu	37	20	25011402	25011402	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:25011402G>A	uc002wub.2	-	3	1502	c.624C>T	c.(622-624)ATC>ATT	p.I208I	ACSS1_uc002wuc.2_Silent_p.I208I|ACSS1_uc010gdc.2_Silent_p.I208I|ACSS1_uc002wua.2_Silent_p.I125I	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	208					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCATCATTGATCCTCCCAG	0.592		NA											24	43					0	0	0	0
TM9SF4	9777	broad.mit.edu	37	20	30729306	30729306	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:30729306T>G	uc002wxj.2	+	4	471	c.236T>G	c.(235-237)GTG>GGG	p.V79G	TM9SF4_uc010ztr.1_Intron|TM9SF4_uc010zts.1_Intron|TM9SF4_uc002wxk.2_Missense_Mutation_p.V62G|TM9SF4_uc010gdz.2_5'Flank	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	79						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCAGGAGAGGTGCTGAGAGGG	0.547		NA											9	53					0	0	0	0
C20orf152	140894	broad.mit.edu	37	20	34575417	34575417	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:34575417G>C	uc002xes.1	+	7	973	c.817G>C	c.(817-819)GAT>CAT	p.D273H	C20orf152_uc002xer.1_Missense_Mutation_p.D273H|C20orf152_uc010gfp.1_Intron			Q96M20	CT152_HUMAN	SubName: Full=C20orf152 protein;	273											0	Breast(12;0.00631)					GATCTCAAAAGATTTTGGAGA	0.493		NA											10	27					0	0	0	0
RALGAPB	57148	broad.mit.edu	37	20	37174953	37174953	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:37174953G>C	uc002xiw.2	+	19	3039	c.2782G>C	c.(2782-2784)GAG>CAG	p.E928Q	RALGAPB_uc002xix.2_Missense_Mutation_p.E924Q|RALGAPB_uc002xiy.1_Missense_Mutation_p.E928Q|RALGAPB_uc002xiz.2_Missense_Mutation_p.E706Q|RALGAPB_uc002xja.1_Missense_Mutation_p.E655Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	928					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						TCTTGTGAATGAGACCACTTT	0.438		NA											26	74					0	0	0	0
ZNF335	63925	broad.mit.edu	37	20	44578159	44578159	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:44578159C>T	uc002xqw.2	-	25	3841	c.3718G>A	c.(3718-3720)GAA>AAA	p.E1240K	ZNF335_uc002xqv.2_Missense_Mutation_p.E352K|ZNF335_uc010zxk.1_Missense_Mutation_p.E1085K	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1240	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				ACAACATATTCCTGGGGGAGC	0.617		NA											10	26					0	0	0	0
ELMO2	63916	broad.mit.edu	37	20	45000282	45000282	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:45000282C>G	uc002xrt.1	-	18	1839	c.1629G>C	c.(1627-1629)CAG>CAC	p.Q543H	ELMO2_uc010zxq.1_Missense_Mutation_p.Q275H|ELMO2_uc002xrs.1_Missense_Mutation_p.Q290H|ELMO2_uc002xru.1_Missense_Mutation_p.Q543H|ELMO2_uc010zxr.1_Missense_Mutation_p.Q555H|ELMO2_uc010zxs.1_Missense_Mutation_p.Q360H|ELMO2_uc002xrv.1_Missense_Mutation_p.Q262H	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	543					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TCAGGCGCTGCTGCTTGATCA	0.612		NA											12	32					0	0	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514571	58514571	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:58514571G>C	uc002ybb.2	-	1	782	c.416C>G	c.(415-417)TCG>TGG	p.S139W	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	139					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GCACAGGTCCGAGTTGATTGC	0.682		NA											13	29					0	0	0	0
DIDO1	11083	broad.mit.edu	37	20	61527745	61527745	+	Splice_Site	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr20:61527745C>G	uc002ydr.1	-	8	2319	c.2055_splice	c.e8-1	p.R685_splice	DIDO1_uc002yds.1_Splice_Site_p.R685_splice|DIDO1_uc002ydt.1_Splice_Site_p.R685_splice|DIDO1_uc002ydu.1_Splice_Site_p.R685_splice	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c						apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GTCATTGACTCTGAACAGAAT	0.363		NA											11	33					0	0	0	0
DSCAM	1826	broad.mit.edu	37	21	41496216	41496216	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr21:41496216G>A	uc002yyq.1	-	20	4054	c.3602C>T	c.(3601-3603)TCA>TTA	p.S1201L	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1201	Fibronectin type-III 4.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATGGAGGCTGAGGCCGCCGC	0.592		NA											36	89					0	0	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057496	46057496	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr21:46057496G>A	uc002zfq.2	+	1	224	c.162G>A	c.(160-162)CAG>CAA	p.Q54Q	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	54	3.|15 X 5 AA repeats of C-C-X(3).					keratin filament					0						CCTGCTGCCAGACGGCCTGTG	0.657		NA											32	70					0	0	0	0
TXNRD2	10587	broad.mit.edu	37	22	19864723	19864723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:19864723C>T	uc011ahc.1	-	17	1513	c.1480G>A	c.(1480-1482)GTG>ATG	p.V494M	TXNRD2_uc002zql.1_Missense_Mutation_p.V248M|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.V493M|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Missense_Mutation_p.V144M	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	494					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					TGGATACCCACGGTCCGCATC	0.657		NA											8	24					0	0	0	0
LRP5L	91355	broad.mit.edu	37	22	25755871	25755871	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:25755871G>C	uc003abs.2	-	1	2654	c.189C>G	c.(187-189)CTC>CTG	p.L63L	LRP5L_uc011ajz.1_Silent_p.L63L|LRP5L_uc010guw.1_Silent_p.L63L	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein	63	LDL-receptor class B 2.										0						AGGTGCTGTTGAGGCACGTCA	0.597		NA											18	80					0	0	0	0
TRIOBP	11078	broad.mit.edu	37	22	38168710	38168710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:38168710C>T	uc003atr.2	+	23	7310	c.7039C>T	c.(7039-7041)CGT>TGT	p.R2347C	TRIOBP_uc003atu.2_Missense_Mutation_p.R2175C|TRIOBP_uc003atw.2_Missense_Mutation_p.R634C|TRIOBP_uc003atx.1_3'UTR|TRIOBP_uc010gxh.2_Missense_Mutation_p.R235C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2347	Potential.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GGAGCACCTGCGTCTTGCCAT	0.627		NA											7	141					0	0	0	0
PARVG	64098	broad.mit.edu	37	22	44583758	44583758	+	Nonsense_Mutation	SNP	C	C	T	rs147016590		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:44583758C>T	uc011aqe.1	+	5	671	c.247C>T	c.(247-249)CAG>TAG	p.Q83*	PARVG_uc010gzo.2_3'UTR|PARVG_uc010gzp.2_RNA|PARVG_uc003bep.2_Nonsense_Mutation_p.Q83*|PARVG_uc010gzr.1_RNA|PARVG_uc011aqf.1_Nonsense_Mutation_p.Q83*|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN	parvin, gamma	83	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding				0		Ovarian(80;0.024)|all_neural(38;0.0299)				CCACCTATTCCGTAAGTGGCT	0.562		NA											13	34					0	0	0	0
SBF1	6305	broad.mit.edu	37	22	50906317	50906317	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr22:50906317C>G	uc003blh.2	-	3	372	c.177G>C	c.(175-177)GAG>GAC	p.E59D	SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.E59D	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	59	UDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGATTCCTCTCGGGACACA	0.632		NA											20	34					0	0	0	0
CNTN4	152330	broad.mit.edu	37	3	2777987	2777987	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:2777987C>G	uc003bpc.2	+	4	365	c.144C>G	c.(142-144)CTC>CTG	p.L48L	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.L48L	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	48	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGTGAAGCTCAATTGTGAAG	0.348		NA											9	84					0	0	0	0
RPUSD3	285367	broad.mit.edu	37	3	9879867	9879867	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:9879867G>A	uc011atk.1	-	9	893	c.889C>T	c.(889-891)CGC>TGC	p.R297C	ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Missense_Mutation_p.R282C	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	297					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(1)	1	Medulloblastoma(99;0.227)					AGGTGGAGGCGTCTGAGGAGG	0.622		NA											7	40					0	0	0	0
MST1R	4486	broad.mit.edu	37	3	49932708	49932708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:49932708C>T	uc003cxy.3	-	14	3427	c.3163G>A	c.(3163-3165)GAG>AAG	p.E1055K	MST1R_uc011bdc.1_5'UTR	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	1055	Cytoplasmic (Potential).				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGATGGACTCTTTCCGCAGC	0.552		NA											59	84					0	0	0	0
CD96	10225	broad.mit.edu	37	3	111304196	111304196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:111304196G>A	uc003dxw.2	+	6	996	c.826G>A	c.(826-828)GAA>AAA	p.E276K	CD96_uc003dxv.2_Missense_Mutation_p.E260K|CD96_uc003dxx.2_Missense_Mutation_p.E260K|CD96_uc010hpy.1_Missense_Mutation_p.E260K	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	276	Extracellular (Potential).|Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3						TGTGATTGTGGAAAATAACTC	0.413		NA							Opitz_Trigonocephaly_syndrome				6	30					0	0	0	0
POLQ	10721	broad.mit.edu	37	3	121158907	121158907	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:121158907G>C	uc003eee.3	-	27	7450	c.7321C>G	c.(7321-7323)CAG>GAG	p.Q2441E	POLQ_uc003eed.2_Missense_Mutation_p.Q1613E	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2441					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		AAAATGGTCTGAACAAATCCG	0.323		NA						DNA_polymerases_(catalytic_subunits)					16	43					0	0	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125872405	125872405	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:125872405G>C	uc003eim.1	-	7	930	c.740C>G	c.(739-741)TCA>TGA	p.S247*	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Nonsense_Mutation_p.S146*|ALDH1L1_uc003eio.2_5'UTR|ALDH1L1_uc010hsf.1_Nonsense_Mutation_p.S273*|ALDH1L1_uc003eip.1_Nonsense_Mutation_p.S154*|ALDH1L1_uc011bkj.1_Nonsense_Mutation_p.S72*	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	247					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GTTCAGCGTTGAGTTGAAAAA	0.567		NA											18	33					0	0	0	0
TPRA1	131601	broad.mit.edu	37	3	127294643	127294643	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:127294643G>A	uc003ejl.2	-	7	910	c.619C>T	c.(619-621)CTG>TTG	p.L207L	TPRA1_uc003ejm.2_Intron|TPRA1_uc003ejo.2_Silent_p.L207L|TPRA1_uc010hsk.2_Intron|TPRA1_uc003ejn.2_Silent_p.L207L	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN	G protein-coupled receptor 175 isoform 1	207	Helical; Name=5; (Potential).				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity				0						ATGACCACCAGAGAGTAGACC	0.642		NA											15	52					0	0	0	0
RPN1	6184	broad.mit.edu	37	3	128348837	128348837	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:128348837G>C	uc003ekr.1	-	5	1069	c.993C>G	c.(991-993)ATC>ATG	p.I331M	RPN1_uc011bkq.1_Missense_Mutation_p.I159M	NM_002950	NP_002941	P04843	RPN1_HUMAN	ribophorin I precursor	331	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.189)		TGTAGCCAACGATGTAATGGG	0.433		NA	T	EVI1	AML								11	30					0	0	0	0
NCK1	4690	broad.mit.edu	37	3	136667114	136667114	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:136667114C>G	uc003erh.2	+	4	1060	c.953C>G	c.(952-954)TCA>TGA	p.S318*	NCK1_uc011bme.1_Nonsense_Mutation_p.S254*	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	318	SH2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						AATGATTTCTCAGTATCACTA	0.299		NA											3	40					0	0	0	0
SLC25A36	55186	broad.mit.edu	37	3	140692589	140692589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:140692589G>A	uc003etr.2	+	6	719	c.484G>A	c.(484-486)GAA>AAA	p.E162K	SLC25A36_uc003ets.2_Missense_Mutation_p.E162K|SLC25A36_uc003etq.2_Missense_Mutation_p.E5K|SLC25A36_uc011bmz.1_Missense_Mutation_p.E136K	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	solute carrier family 25, member 36 isoform a	162	Solcar 2.				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						GGGTGCTTTTGAATGTGTTCG	0.353		NA											11	23					0	0	0	0
RNF13	11342	broad.mit.edu	37	3	149589832	149589832	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:149589832C>G	uc003exn.3	+	5	996	c.212C>G	c.(211-213)TCA>TGA	p.S71*	RNF13_uc003exp.3_Nonsense_Mutation_p.S71*|RNF13_uc010hvh.2_5'UTR	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	71	PA.|Lumenal (Potential).				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGATTAACTCAAAACCAGAG	0.328		NA											6	33					0	0	0	0
MED12L	116931	broad.mit.edu	37	3	150840608	150840608	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:150840608G>A	uc003eyp.2	+	3	281	c.243G>A	c.(241-243)CTG>CTA	p.L81L	MED12L_uc011bnz.1_Silent_p.L81L|MED12L_uc003eym.1_Silent_p.L81L|MED12L_uc003eyn.2_Silent_p.L81L|MED12L_uc003eyo.2_Silent_p.L81L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	81					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAGAAACTGAAGCTTAACA	0.378		NA											5	14					0	0	0	0
MECOM	2122	broad.mit.edu	37	3	168833803	168833803	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:168833803G>A	uc003ffi.3	-	7	1562	c.1293C>T	c.(1291-1293)TTC>TTT	p.F431F	MECOM_uc010hwk.1_Silent_p.F454F|MECOM_uc003ffj.3_Silent_p.F496F|MECOM_uc011bpi.1_Silent_p.F432F|MECOM_uc003ffn.3_Silent_p.F431F|MECOM_uc003ffk.2_Silent_p.F431F|MECOM_uc003ffl.2_Silent_p.F591F|MECOM_uc011bpj.1_Silent_p.F619F|MECOM_uc011bpk.1_Silent_p.F421F|MECOM_uc010hwn.2_Silent_p.F619F	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	431	Nuclear localization signal (Potential).				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						CTTTGTCTTTGAACATTTTAC	0.378		NA											20	45					0	0	0	0
TNIK	23043	broad.mit.edu	37	3	170819256	170819256	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:170819256C>G	uc003fhh.2	-	22	2918	c.2573G>C	c.(2572-2574)AGC>ACC	p.S858T	TNIK_uc003fhi.2_Missense_Mutation_p.S803T|TNIK_uc003fhj.2_Missense_Mutation_p.S829T|TNIK_uc003fhk.2_Missense_Mutation_p.S850T|TNIK_uc003fhl.2_Missense_Mutation_p.S774T|TNIK_uc003fhm.2_Missense_Mutation_p.S795T|TNIK_uc003fhn.2_Missense_Mutation_p.S821T|TNIK_uc003fho.2_Missense_Mutation_p.S766T|TNIK_uc003fhg.2_Missense_Mutation_p.S36T	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	858	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGGTATGTCGCTGACAGCCAC	0.453		NA											109	245					0	0	0	0
FXR1	8087	broad.mit.edu	37	3	180685989	180685989	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:180685989C>T	uc003fkq.2	+	14	1371	c.1349C>T	c.(1348-1350)TCA>TTA	p.S450L	FXR1_uc003fkp.2_Missense_Mutation_p.S365L|FXR1_uc003fkr.2_Missense_Mutation_p.S450L|FXR1_uc011bqj.1_Missense_Mutation_p.S364L|FXR1_uc003fks.2_Missense_Mutation_p.S393L|FXR1_uc011bqk.1_Missense_Mutation_p.S401L|FXR1_uc011bql.1_Missense_Mutation_p.S437L	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	450	RNA-binding RGG-box.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGAAGTGTTTCAGGGGGTCGA	0.512		NA											18	38					0	0	0	0
EVC2	132884	broad.mit.edu	37	4	5586467	5586467	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:5586467C>G	uc003gij.2	-	17	2994	c.2940G>C	c.(2938-2940)GAG>GAC	p.E980D	EVC2_uc011bwb.1_Missense_Mutation_p.E420D|EVC2_uc003gik.2_Missense_Mutation_p.E900D	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	980						integral to membrane				large_intestine(3)|ovary(2)	5						CCGACAGAGTCTCGGTCACCC	0.602		NA											22	34					0	0	0	0
N4BP2	55728	broad.mit.edu	37	4	40122465	40122465	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:40122465A>G	uc003guy.3	+	9	3072	c.2734A>G	c.(2734-2736)ATT>GTT	p.I912V	N4BP2_uc010ifq.2_Missense_Mutation_p.I832V|N4BP2_uc010ifr.2_Missense_Mutation_p.I832V	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	912						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						CAACCTAGAAATTGGAACAAA	0.413		NA											16	43					0	0	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984001	41984001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:41984001G>C	uc003gwk.2	+	1	289	c.192G>C	c.(190-192)TTG>TTC	p.L64F		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	64										skin(1)	1						TTCGGAGCTTGGATCCCTCCT	0.532		NA											3	62					0	0	0	0
ATP8A1	10396	broad.mit.edu	37	4	42571206	42571206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:42571206C>G	uc003gwr.2	-	15	1544	c.1312G>C	c.(1312-1314)GAG>CAG	p.E438Q	ATP8A1_uc003gws.2_Intron|ATP8A1_uc011byz.1_Intron	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	438	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	CCATAATCCTCAGGTTCAGGG	0.408		NA											14	41					0	0	0	0
DCK	1633	broad.mit.edu	37	4	71859630	71859630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:71859630C>G	uc003hfx.2	+	1	366	c.78C>G	c.(76-78)ATC>ATG	p.I26M	DCK_uc011cbb.1_Translation_Start_Site	NM_000788	NP_000779	P27707	DCK_HUMAN	deoxycytidine kinase	26					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			ovary(1)	1			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AAATCTCCATCGAAGGGAACA	0.602		NA											7	15					0	0	0	0
SLC4A4	8671	broad.mit.edu	37	4	72423435	72423435	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:72423435G>T	uc003hfy.2	+	22	2887	c.2770G>T	c.(2770-2772)GAT>TAT	p.D924Y	SLC4A4_uc010iic.2_Missense_Mutation_p.D924Y|SLC4A4_uc010iib.2_Missense_Mutation_p.D840Y|SLC4A4_uc003hfz.2_Missense_Mutation_p.D924Y|SLC4A4_uc003hgc.3_Missense_Mutation_p.D880Y|SLC4A4_uc010iid.2_Missense_Mutation_p.D128Y	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	924	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCAGTTCATGGATCGTCTGAA	0.443		NA											5	49					3.6e-05	4.83e-05	1	0
FRAS1	80144	broad.mit.edu	37	4	79387417	79387417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:79387417G>A	uc003hlb.2	+	50	7525	c.7085G>A	c.(7084-7086)CGA>CAA	p.R2362Q		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2361	CSPG 11.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						ACCATCGAGCGAACCAGCAAT	0.557		NA											19	63					0	0	0	0
BMP2K	55589	broad.mit.edu	37	4	79780824	79780824	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:79780824C>G	uc003hlk.2	+	8	1136	c.970C>G	c.(970-972)CCA>GCA	p.P324A	BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.P324A	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	324						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						AAAGGATTGTCCAGTCTCCAA	0.303		NA											10	34					0	0	0	0
HERC5	51191	broad.mit.edu	37	4	89426907	89426907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:89426907G>A	uc003hrt.2	+	23	3106	c.2953G>A	c.(2953-2955)GAA>AAA	p.E985K	HERC5_uc011cdm.1_Missense_Mutation_p.E623K	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	985	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAGTTGGAATGAAAGAGACCC	0.338		NA											6	19					0	0	0	0
COL25A1	84570	broad.mit.edu	37	4	110222950	110222950	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:110222950G>A	uc003hze.1	-	2	757	c.226C>T	c.(226-228)CAT>TAT	p.H76Y	COL25A1_uc003hzg.2_Missense_Mutation_p.H76Y|COL25A1_uc003hzh.1_Missense_Mutation_p.H76Y	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	76	Extracellular (Potential).					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCAGCAGATGAATGGAAGGG	0.572		NA											44	96					0	0	0	0
GRIA2	2891	broad.mit.edu	37	4	158233953	158233953	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:158233953G>C	uc003ipm.3	+	4	1051	c.592G>C	c.(592-594)GAT>CAT	p.D198H	GRIA2_uc011cit.1_Missense_Mutation_p.D151H|GRIA2_uc003ipl.3_Missense_Mutation_p.D198H|GRIA2_uc003ipk.3_Missense_Mutation_p.D151H|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	198	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACTTTTTCAAGATCTGGAGTT	0.388		NA											22	67					0	0	0	0
GRIA2	2891	broad.mit.edu	37	4	158284166	158284166	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:158284166C>T	uc003ipm.3	+	15	3081	c.2622C>T	c.(2620-2622)AAC>AAT	p.N874N	GRIA2_uc011cit.1_Silent_p.N827N|GRIA2_uc003ipl.3_Silent_p.N874N|GRIA2_uc003ipk.3_Silent_p.N827N|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	874	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAGGTTACAACGTATATGGCA	0.408		NA											7	92					0	0	0	0
KLHL2	11275	broad.mit.edu	37	4	166184408	166184408	+	Silent	SNP	A	A	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:166184408A>G	uc003irb.2	+	5	700	c.441A>G	c.(439-441)GAA>GAG	p.E147E	KLHL2_uc011cjm.1_Silent_p.E151E|KLHL2_uc003irc.2_Silent_p.E59E|KLHL2_uc010ira.2_5'UTR	NM_007246	NP_009177	O95198	KLHL2_HUMAN	kelch-like 2, Mayven isoform 1	147					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity				0	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTTGTTGTGAATTTTTGGAAT	0.463		NA											32	61					0	0	0	0
CCDC110	256309	broad.mit.edu	37	4	186380966	186380966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:186380966C>T	uc003ixu.3	-	6	851	c.775G>A	c.(775-777)GAA>AAA	p.E259K	CCDC110_uc003ixv.3_Missense_Mutation_p.E222K|CCDC110_uc011ckt.1_Missense_Mutation_p.E259K	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	259						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AGTGCCACTTCCCCATCATGT	0.363		NA											6	114					0	0	0	0
CCDC110	256309	broad.mit.edu	37	4	186380971	186380971	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:186380971T>A	uc003ixu.3	-	6	846	c.770A>T	c.(769-771)GAT>GTT	p.D257V	CCDC110_uc003ixv.3_Missense_Mutation_p.D220V|CCDC110_uc011ckt.1_Missense_Mutation_p.D257V	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	257						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CACTTCCCCATCATGTGACTT	0.358		NA											6	110					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187525001	187525001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:187525001G>C	uc003izf.2	-	19	10867	c.10679C>G	c.(10678-10680)TCA>TGA	p.S3560*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3560	Extracellular (Potential).|Cadherin 33.				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						GACGCCACCTGAGTATTCTTC	0.473		NA								HNSCC(5;0.00058)			12	28					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187525110	187525110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr4:187525110G>A	uc003izf.2	-	19	10758	c.10570C>T	c.(10570-10572)CAG>TAG	p.Q3524*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3524	Extracellular (Potential).|Cadherin 32.				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						GATGACAACTGAGGCTTTCCA	0.378		NA								HNSCC(5;0.00058)			10	25					0	0	0	0
CEP72	55722	broad.mit.edu	37	5	644450	644450	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:644450G>C	uc003jbf.2	+	10	1648	c.1576G>C	c.(1576-1578)GAG>CAG	p.E526Q		NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	526	Potential.				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ATCTTTGGAAGAGAACAGTAG	0.368		NA											4	107					0	0	0	0
SLC6A3	6531	broad.mit.edu	37	5	1409145	1409145	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:1409145G>A	uc003jck.2	-	11	1615	c.1494C>T	c.(1492-1494)TTC>TTT	p.F498F		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	498	Helical; Name=10; (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ACTCACCATAGAACCAGGCCA	0.582		NA											8	8					0	0	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242298	5242298	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:5242298G>A	uc003jdl.2	+	17	2794	c.2656G>A	c.(2656-2658)GGA>AGA	p.G886R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G886R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	886	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CGTGTCCTGCGGAGGGGGTAG	0.612		NA											20	46					0	0	0	0
ADCY2	108	broad.mit.edu	37	5	7766894	7766894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:7766894G>A	uc003jdz.1	+	17	2256	c.2189G>A	c.(2188-2190)CGT>CAT	p.R730H	ADCY2_uc011cmo.1_Missense_Mutation_p.R550H	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	730					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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GCGATTCTGCGTGCGCAGAAT	0.428		NA											11	114					0	0	0	0
FASTKD3	79072	broad.mit.edu	37	5	7868022	7868022	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:7868022G>C	uc003jeb.2	-	2	312	c.175C>G	c.(175-177)CAT>GAT	p.H59D	FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	59					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						CAATGGGCATGATGGAATTTG	0.438		NA											23	53					0	0	0	0
TRIO	7204	broad.mit.edu	37	5	14381332	14381332	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:14381332G>C	uc003jff.2	+	21	3547	c.3541G>C	c.(3541-3543)GAG>CAG	p.E1181Q	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E1132Q|TRIO_uc003jfh.1_Missense_Mutation_p.E830Q	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1181	Spectrin 4.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GCTCCTGAAAGAGCACGAGGA	0.473		NA											18	45					0	0	0	0
TRIO	7204	broad.mit.edu	37	5	14387879	14387879	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:14387879C>T	uc003jff.2	+	23	3810	c.3804C>T	c.(3802-3804)ATC>ATT	p.I1268I	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.I1219I|TRIO_uc003jfh.1_Silent_p.I917I	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1268					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CAGCCAGTATCCCTGGCTCAG	0.443		NA											4	53					0	0	0	0
IL7R	3575	broad.mit.edu	37	5	35875625	35875625	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:35875625T>A	uc003jjs.2	+	7	901	c.812T>A	c.(811-813)ATC>AAC	p.I271N	IL7R_uc011coo.1_Missense_Mutation_p.S240T|IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	271	Cytoplasmic (Potential).				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATTAAGCCTATCGTATGGCCC	0.393		NA											13	27					0	0	0	0
IPO11	51194	broad.mit.edu	37	5	61747671	61747671	+	Nonsense_Mutation	SNP	C	C	T	rs138490998		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:61747671C>T	uc003jtc.2	+	5	617	c.427C>T	c.(427-429)CGA>TGA	p.R143*	IPO11_uc011cqr.1_Nonsense_Mutation_p.R183*|IPO11_uc003jtb.1_Nonsense_Mutation_p.R143*	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	143	HEAT 1.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GGATGATCTTCGACAGCACAG	0.403		NA											20	55					0	0	0	0
GPR98	84059	broad.mit.edu	37	5	90050870	90050870	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:90050870G>C	uc003kju.2	+	55	11544	c.11448G>C	c.(11446-11448)TTG>TTC	p.L3816F	GPR98_uc003kjt.2_Missense_Mutation_p.L1522F|GPR98_uc003kjv.2_Missense_Mutation_p.L1416F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3816	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCATTCACTTGAGAGCTCAAC	0.358		NA											29	69					0	0	0	0
ERAP2	64167	broad.mit.edu	37	5	96248384	96248384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:96248384C>T	uc003kmq.2	+	16	3108	c.2398C>T	c.(2398-2400)CAG>TAG	p.Q800*	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Nonsense_Mutation_p.Q800*|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Nonsense_Mutation_p.Q749*|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	800	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)		TGTGGGTGCTCAGACAACAGC	0.328		NA											16	42					0	0	0	0
SRFBP1	153443	broad.mit.edu	37	5	121309963	121309963	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:121309963C>T	uc003kst.1	+	2	181	c.109C>T	c.(109-111)CGA>TGA	p.R37*		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GAGTGTTGGCCGACTGAAGTC	0.313		NA											8	16					0	0	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724426	140724426	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:140724426C>A	uc003ljm.1	+	1	826	c.826C>A	c.(826-828)CAA>AAA	p.Q276K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.Q36K|PCDHGA3_uc011dap.1_Missense_Mutation_p.Q276K	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	276	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCAATGCTCAAGTGTCTTA	0.448		NA											16	33					0.000422831	0.000564477	1	0
PCDHGA10	56106	broad.mit.edu	37	5	140794543	140794543	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:140794543G>A	uc003lkl.1	+	1	1801	c.1801G>A	c.(1801-1803)GAC>AAC	p.D601N	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|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.D601N|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	601	Cadherin 6.|Extracellular (Potential).				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)			GGTGGACAGAGACTCCGGCCA	0.716		NA											38	108					0	0	0	0
NR3C1	2908	broad.mit.edu	37	5	142780147	142780147	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:142780147C>G	uc003lmz.2	-	2	750	c.258G>C	c.(256-258)ATG>ATC	p.M86I	NR3C1_uc003lmy.2_Missense_Mutation_p.M86I|NR3C1_uc003lna.2_Missense_Mutation_p.M86I|NR3C1_uc003lnb.2_Missense_Mutation_p.M86I|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.M86I|NR3C1_uc003lnd.2_Missense_Mutation_p.M86I|NR3C1_uc003lne.2_Missense_Mutation_p.M86I|NR3C1_uc003lnf.2_Missense_Mutation_p.M86I|NR3C1_uc003lng.2_Missense_Mutation_p.M86I|NR3C1_uc003lnh.2_Missense_Mutation_p.M86I|NR3C1_uc003lni.2_Missense_Mutation_p.M86I	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	86	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TATACAGTCCCATTGAGAGTG	0.473		NA											4	169					0	0	0	0
SLC36A3	285641	broad.mit.edu	37	5	150660632	150660632	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:150660632C>T	uc003ltw.2	-	9	1506	c.1087G>A	c.(1087-1089)GAG>AAG	p.E363K	GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Missense_Mutation_p.E348K|SLC36A3_uc003ltx.2_Missense_Mutation_p.E404K	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	363	Cytoplasmic (Potential).					integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCAGCTCTCTGACACTTGG	0.507		NA											23	43					0	0	0	0
CLINT1	9685	broad.mit.edu	37	5	157218825	157218825	+	Silent	SNP	G	G	A	rs150043675	by1000genomes	TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:157218825G>A	uc003lxj.1	-	10	1456	c.1266C>T	c.(1264-1266)GAC>GAT	p.D422D	CLINT1_uc003lxg.1_5'Flank|CLINT1_uc003lxh.1_5'UTR|CLINT1_uc003lxi.1_Silent_p.D404D|CLINT1_uc011ddv.1_Silent_p.D422D	NM_014666	NP_055481	Q14677	EPN4_HUMAN	epsin 4	422				D->R: Strongly decreases clathrin binding.	endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCAAACAGGTCTGAAGAAT	0.502		NA											8	92					0	0	0	0
STK10	6793	broad.mit.edu	37	5	171534828	171534828	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:171534828C>G	uc003mbo.1	-	5	849	c.549G>C	c.(547-549)CTG>CTC	p.L183L		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	183	Protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTAGAGTCTTCAGATTCTTGG	0.478		NA									OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	33					0	0	0	0
FGFR4	2264	broad.mit.edu	37	5	176523644	176523644	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr5:176523644C>T	uc003mfl.2	+	16	2222	c.2055C>T	c.(2053-2055)CTC>CTT	p.L685L	FGFR4_uc003mfm.2_Silent_p.L685L|FGFR4_uc011dfu.1_Silent_p.L617L|FGFR4_uc003mfo.2_Silent_p.L645L	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	685	Protein kinase.|Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	TCTTCACCCTCGGGGGCTCCC	0.667		NA								TSP Lung(9;0.080)			13	33					0	0	0	0
DSP	1832	broad.mit.edu	37	6	7586033	7586033	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:7586033G>A	uc003mxp.1	+	24	8817	c.8538G>A	c.(8536-8538)CGG>CGA	p.R2846R	DSP_uc003mxq.1_Silent_p.R2247R	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2846	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGGGTCCCGGAGAGGAAGCT	0.373		NA											39	119					0	0	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122513	18122513	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:18122513T>A	uc003ncl.1	-	1	339	c.325A>T	c.(325-327)AGC>TGC	p.S109C		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	109					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)			CCGGGGGCGCTGGGGGCGGCG	0.731		NA											7	20					0	0	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122525	18122525	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:18122525G>A	uc003ncl.1	-	1	327	c.313C>T	c.(313-315)CGC>TGC	p.R105C		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	105					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)			GGGGCGGCGCGATGGGCGGCC	0.726		NA											5	15					0	0	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043802	26043802	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:26043802C>T	uc003nfu.2	-	1	84	c.84G>A	c.(82-84)AAG>AAA	p.K28K	HIST1H3C_uc003nfv.2_5'Flank	NM_021062	NP_066406	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	28					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GCTTACGCTTCTTACCATCCT	0.507		NA											45	128					0	0	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839926	27839926	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:27839926C>T	uc003njy.2	-	1	174	c.168G>A	c.(166-168)CAG>CAA	p.Q56Q		NM_003533	NP_003524	P68431	H31_HUMAN	histone cluster 1, H3i	56					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1						CGGTCGACTTCTGGTAGCGGC	0.657		NA											37	68					0	0	0	0
HLA-A	3105	broad.mit.edu	37	6	29910684	29910684	+	Nonsense_Mutation	SNP	G	G	A	rs41542016		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:29910684G>A	uc003nol.2	+	2	224	c.224G>A	c.(223-225)TGG>TAG	p.W75*	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Nonsense_Mutation_p.W75*|HLA-A_uc003noo.2_Nonsense_Mutation_p.W75*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.W75*|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Nonsense_Mutation_p.W47*|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	75	Extracellular (Potential).|Alpha-1.				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						CGGGCGCCGTGGATAGAGCAG	0.677		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)			3	17					0	0	0	0
MDC1	9656	broad.mit.edu	37	6	30671427	30671427	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:30671427C>T	uc003nrg.3	-	10	5973	c.5533G>A	c.(5533-5535)GAT>AAT	p.D1845N	MDC1_uc003nrf.3_Missense_Mutation_p.D476N|MDC1_uc011dmp.1_Missense_Mutation_p.D1452N	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1845	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TCTGCAGTATCTTCTTCCTCT	0.483		NA						Other_conserved_DNA_damage_response_genes					59	143					0	0	0	0
MUC21	394263	broad.mit.edu	37	6	30954680	30954680	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:30954680C>G	uc003nsh.2	+	2	979	c.728C>G	c.(727-729)TCT>TGT	p.S243C	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	243	Ser-rich.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GCCACCAACTCTGAGTCCAGC	0.642		NA											7	305					0	0	0	0
HLA-B	3106	broad.mit.edu	37	6	31323241	31323241	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:31323241G>C	uc003nth.2	-	4	802	c.748C>G	c.(748-750)CAG>GAG	p.Q250E	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_Missense_Mutation_p.Q129E|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	250	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						TCAGTGTCCTGAGTTTGGTCC	0.587		NA							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				29	65					0	0	0	0
HLA-B	3106	broad.mit.edu	37	6	31324637	31324637	+	Missense_Mutation	SNP	G	G	C	rs41546213		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:31324637G>C	uc003nth.2	-	2	225	c.171C>G	c.(169-171)TTC>TTG	p.F57L	HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Missense_Mutation_p.F57L|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Missense_Mutation_p.F29L	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	57	Alpha-1.|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						CGAACCTCACGAACTGGGTGT	0.657		NA							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				11	18					0	0	0	0
PACSIN1	29993	broad.mit.edu	37	6	34498110	34498110	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:34498110C>T	uc003ojo.2	+	7	1085	c.879C>T	c.(877-879)CCC>CCT	p.P293P	PACSIN1_uc003ojp.2_Silent_p.P293P	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	293					endocytosis		protein kinase activity				0						CCAGTGGCCCCGGCATGCCCA	0.617		NA											16	27					0	0	0	0
LRFN2	57497	broad.mit.edu	37	6	40359796	40359796	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:40359796C>G	uc003oph.1	-	3	2721	c.2256G>C	c.(2254-2256)TGG>TGC	p.W752C		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	752	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCGCTTCGTCCAGATGTTCG	0.642		NA											11	24					0	0	0	0
GPR115	221393	broad.mit.edu	37	6	47680160	47680160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:47680160G>A	uc003oza.1	+	5	626	c.368G>A	c.(367-369)CGA>CAA	p.R123Q	GPR115_uc003oyz.1_Missense_Mutation_p.R180Q|GPR115_uc003ozb.1_Missense_Mutation_p.R121Q	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	G-protein coupled receptor 115 precursor	123	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						CTAGACTTTCGAGCTCCAGAG	0.418		NA											30	74					0	0	0	0
SMAP1	60682	broad.mit.edu	37	6	71442124	71442124	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:71442124C>T	uc003pfr.2	+	2	410	c.162C>T	c.(160-162)ATC>ATT	p.I54I	SMAP1_uc011dxy.1_RNA|SMAP1_uc003pfs.2_Silent_p.I54I|SMAP1_uc010kao.2_Silent_p.I54I|SMAP1_uc010kap.2_Silent_p.I44I	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	stromal membrane-associated GTPase-activating	54	C4-type.|Arf-GAP.				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding				0						TTATTTGCATCAGATGTGCTG	0.363		NA											12	54					0	0	0	0
IMPG1	3617	broad.mit.edu	37	6	76660391	76660391	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:76660391C>T	uc003pik.1	-	13	1842	c.1712G>A	c.(1711-1713)CGA>CAA	p.R571Q		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	571	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TACCAGCTCTCGGCCCTTGGG	0.488		NA											8	56					0	0	0	0
WASF1	8936	broad.mit.edu	37	6	110423089	110423089	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:110423089C>T	uc003ptv.1	-	10	2061	c.1224G>A	c.(1222-1224)GAG>GAA	p.E408E	WASF1_uc003ptw.1_Silent_p.E408E|WASF1_uc003ptx.1_Silent_p.E408E|WASF1_uc003pty.1_Silent_p.E408E	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Wiskott-Aldrich syndrome protein family member	408					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding				0		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CTGGTACAGTCTCACATACTG	0.577		NA											13	44					0	0	0	0
OLIG3	167826	broad.mit.edu	37	6	137815023	137815023	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:137815023C>T	uc003qhp.1	-	1	509	c.285G>A	c.(283-285)CGG>CGA	p.R95R		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	95	Basic motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GGTCGTGCATCCGCTTGCGTT	0.607		NA											36	58					0	0	0	0
RAET1E	135250	broad.mit.edu	37	6	150210518	150210518	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:150210518G>A	uc003qnl.1	-	3	648	c.588C>T	c.(586-588)TTC>TTT	p.F196F	uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.F196F|RAET1E_uc003qnk.1_Silent_p.F160F|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	196	Extracellular (Potential).|MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGTGCCCTAAGAATTCCCTGA	0.512		NA											5	66					0	0	0	0
RAET1E	135250	broad.mit.edu	37	6	150210686	150210686	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr6:150210686G>A	uc003qnl.1	-	3	480	c.420C>T	c.(418-420)TTC>TTT	p.F140F	uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.F140F|RAET1E_uc003qnk.1_Silent_p.F104F|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	140	Extracellular (Potential).|MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CATTGGTGGCGAACTGCCAGG	0.468		NA											5	75					0	0	0	0
PSMG3	84262	broad.mit.edu	37	7	1608785	1608785	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:1608785G>C	uc003skx.2	-	1	845	c.191C>G	c.(190-192)ACA>AGA	p.T64R	PSMG3_uc011jvx.1_Missense_Mutation_p.T64R|KIAA1908_uc003sla.2_5'Flank|KIAA1908_uc003sky.1_5'Flank|KIAA1908_uc003skz.1_5'Flank	NM_032302	NP_115678	Q9BT73	PSMG3_HUMAN	proteasome assembling chaperone 3	64											0		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		AAGGACTTTTGTGGTGAGCAC	0.403		NA											29	69					0	0	0	0
THSD7A	221981	broad.mit.edu	37	7	11485796	11485796	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:11485796T>C	uc003ssf.3	-	13	3208	c.2956A>G	c.(2956-2958)AAA>GAA	p.K986E		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	986	TSP type-1 10.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTGTACTTTCATTCCCAGC	0.433		NA								HNSCC(18;0.044)			3	187					0	0	0	0
ETV1	2115	broad.mit.edu	37	7	13975358	13975358	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:13975358C>A	uc011jxq.1	-	8	1268	c.529G>T	c.(529-531)GAT>TAT	p.D177Y	ETV1_uc011jxn.1_Missense_Mutation_p.D137Y|ETV1_uc011jxo.1_Intron|ETV1_uc011jxp.1_Missense_Mutation_p.D119Y|ETV1_uc003ssw.3_Missense_Mutation_p.D177Y|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.D159Y|ETV1_uc011jxs.1_Missense_Mutation_p.D159Y|ETV1_uc010ktv.2_Missense_Mutation_p.D46Y	NM_004956	NP_004947	P50549	ETV1_HUMAN	ets variant gene 1 isoform a	177					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						TAGCTGCTATCTGGTATGGAC	0.478		NA	T	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3	Ewing sarcoma|prostate								12	168					6.72e-11	9.29e-11	1	0
HOXA11	3207	broad.mit.edu	37	7	27222479	27222479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:27222479C>T	uc003syx.2	-	2	950	c.878G>A	c.(877-879)AGA>AAA	p.R293K	HOXA10_uc003syw.3_5'Flank|HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	homeobox A11	293	Homeobox.				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)	2						TTCCTTCATTCTCCTGTTCTG	0.453		NA	T	NUP98	CML								27	64					0	0	0	0
ABCA13	154664	broad.mit.edu	37	7	48318519	48318519	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:48318519A>T	uc003toq.2	+	18	7753	c.7728A>T	c.(7726-7728)TTA>TTT	p.L2576F	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2576					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TAGCTACTTTAAAAAAAATAG	0.313		NA											42	75					0	0	0	0
IKZF1	10320	broad.mit.edu	37	7	50467665	50467665	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:50467665G>A	uc003tow.3	+	9	1068	c.900G>A	c.(898-900)GAG>GAA	p.E300E	IKZF1_uc003tox.3_Silent_p.E258E|IKZF1_uc003toy.3_Silent_p.E258E|IKZF1_uc011kck.1_Silent_p.E213E|IKZF1_uc003toz.3_Silent_p.E270E|IKZF1_uc010kyx.2_Silent_p.E40E|IKZF1_uc003tpa.3_Silent_p.E42E	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	300					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CCAGCTACGAGAAGGAGAACG	0.637		NA	D		ALL								4	20					0	0	0	0
ABCB1	5243	broad.mit.edu	37	7	87179526	87179526	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:87179526G>C	uc003uiz.1	-	13	1729	c.1311C>G	c.(1309-1311)GTC>GTG	p.V437V	ABCB1_uc011khc.1_Silent_p.V373V	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	437	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCATCAGCTGGACTGTTGTGC	0.557		NA											3	48					0	0	0	0
MCM7	4176	broad.mit.edu	37	7	99693502	99693502	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:99693502G>C	uc003usw.1	-	11	2000	c.1490C>G	c.(1489-1491)CCT>CGT	p.P497R	MCM7_uc003usv.1_Missense_Mutation_p.P321R|MCM7_uc003usx.1_Missense_Mutation_p.P321R|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	497	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCTGCGGCGAGGGTTGTAGCG	0.622		NA											34	67					0	0	0	0
C7orf51	222950	broad.mit.edu	37	7	100085946	100085946	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:100085946G>A	uc003uvd.1	+	4	761	c.602G>A	c.(601-603)CGA>CAA	p.R201Q	C7orf51_uc003uve.1_5'UTR	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	201										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGGGTCCCGAGTAGCTGGG	0.632		NA											34	83					0	0	0	0
ACTL6B	51412	broad.mit.edu	37	7	100253069	100253069	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:100253069G>A	uc003uvy.2	-	3	350	c.243C>T	c.(241-243)GTC>GTT	p.V81V	ACTL6B_uc003uvz.2_RNA|uc003uwa.1_5'Flank	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	81	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGCGACATGACCTCCGCTC	0.612		NA											29	74					0	0	0	0
CUL1	8454	broad.mit.edu	37	7	148427271	148427271	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:148427271G>A	uc010lpg.2	+	2	583	c.57G>A	c.(55-57)CAG>CAA	p.Q19Q	CUL1_uc003wey.2_Silent_p.Q19Q|CUL1_uc003wez.2_5'UTR	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCTGGACCAGATCTGGGACG	0.562		NA											23	59					0	0	0	0
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:148484186G>A	uc010lpg.2	+	13	1979	c.1453G>A	c.(1453-1455)GAA>AAA	p.E485K	CUL1_uc003wey.2_Missense_Mutation_p.E485K|CUL1_uc003wez.2_Missense_Mutation_p.E375K|CUL1_uc003wfa.2_Missense_Mutation_p.E146K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.398		NA											66	17					0	0	0	0
PRKAG2	51422	broad.mit.edu	37	7	151262822	151262822	+	Silent	SNP	A	A	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:151262822A>T	uc003wkk.2	-	12	1994	c.1383T>A	c.(1381-1383)CCT>CCA	p.P461P	PRKAG2_uc003wki.2_Silent_p.P220P|PRKAG2_uc011kvl.1_Silent_p.P336P|PRKAG2_uc003wkj.2_Silent_p.P417P|PRKAG2_uc003wkl.2_Intron	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	461	CBS 3.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CATCCACAACAGGCAGAGCTG	0.433		NA											24	73					0	0	0	0
WDR60	55112	broad.mit.edu	37	7	158679719	158679719	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr7:158679719G>C	uc003woe.3	+	7	1101	c.943G>C	c.(943-945)GAG>CAG	p.E315Q	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_5'UTR	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	315										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CAGGCATGCTGAGAATTTAGT	0.313		NA											34	13					0	0	0	0
NEIL2	252969	broad.mit.edu	37	8	11637314	11637314	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:11637314G>C	uc003wug.2	+	3	1021	c.346G>C	c.(346-348)GAG>CAG	p.E116Q	NEIL2_uc003wue.2_Missense_Mutation_p.E116Q|NEIL2_uc003wuf.2_Missense_Mutation_p.E55Q|NEIL2_uc011kxd.1_Intron	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	116					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GGATGATTCTGAGTATTTGGA	0.602		NA						BER_DNA_glycosylases					31	48					0	0	0	0
TEX15	56154	broad.mit.edu	37	8	30699749	30699749	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:30699749C>T	uc003xil.2	-	1	6785	c.6785G>A	c.(6784-6786)AGA>AAA	p.R2262K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2262										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATCTTCCTTCTGTTATACAG	0.303		NA											23	52					0	0	0	0
GPR124	25960	broad.mit.edu	37	8	37696479	37696479	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:37696479G>C	uc003xkj.2	+	15	2628	c.2265G>C	c.(2263-2265)CTG>CTC	p.L755L	GPR124_uc010lvy.2_Silent_p.L538L	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	755	GPS.|Extracellular (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCAGGAGCTGAGCGCCTTTC	0.677		NA											14	57					0	0	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992626	66992626	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:66992626C>T	uc003xvs.1	+	5	639	c.348C>T	c.(346-348)ATC>ATT	p.I116I	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	116					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TGTTTGTCATCGTTGGCCTCT	0.423		NA											24	58					0	0	0	0
CNGB3	54714	broad.mit.edu	37	8	87623893	87623893	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:87623893C>G	uc003ydx.2	-	14	1631	c.1585G>C	c.(1585-1587)GAT>CAT	p.D529H	CNGB3_uc010maj.2_Missense_Mutation_p.D391H	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	529	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						ATCTGTGTATCACAACCCTAT	0.294		NA											10	34					0	0	0	0
NECAB1	64168	broad.mit.edu	37	8	91940500	91940500	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:91940500G>A	uc011lgg.1	+	8	860	c.666G>A	c.(664-666)CAG>CAA	p.Q222Q		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	222	Potential.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ATAGACTCCAGAAATTAATTG	0.383		NA											32	52					0	0	0	0
NECAB1	64168	broad.mit.edu	37	8	91940510	91940510	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:91940510G>C	uc011lgg.1	+	8	870	c.676G>C	c.(676-678)GAT>CAT	p.D226H		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	226	Potential.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAAATTAATTGATAGACTGGA	0.383		NA											29	51					0	0	0	0
MATN2	4147	broad.mit.edu	37	8	98943558	98943558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:98943558C>T	uc003yic.2	+	3	751	c.520C>T	c.(520-522)CAG>TAG	p.Q174*	MATN2_uc003yib.1_Nonsense_Mutation_p.Q174*|MATN2_uc010mbh.1_Nonsense_Mutation_p.Q174*|MATN2_uc003yid.2_Nonsense_Mutation_p.Q174*|MATN2_uc003yie.1_Nonsense_Mutation_p.Q174*|MATN2_uc010mbi.1_Nonsense_Mutation_p.Q48*	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	174	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGGGAGACCTCAGGACTCCGT	0.577		NA											5	39					0	0	0	0
RGS22	26166	broad.mit.edu	37	8	101016160	101016160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:101016160G>A	uc003yjb.1	-	17	2816	c.2621C>T	c.(2620-2622)TCT>TTT	p.S874F	RGS22_uc003yja.1_Missense_Mutation_p.S693F|RGS22_uc003yjc.1_Missense_Mutation_p.S862F|RGS22_uc011lgz.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	874	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCACCTTGAAGAATGAGTCTC	0.328		NA											14	29					0	0	0	0
AZIN1	51582	broad.mit.edu	37	8	103848575	103848575	+	Missense_Mutation	SNP	C	C	T	rs142265787		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:103848575C>T	uc003ykx.2	-	7	1235	c.493G>A	c.(493-495)GAG>AAG	p.E165K	AZIN1_uc003yky.2_Missense_Mutation_p.E165K	NM_015878	NP_056962	O14977	AZIN1_HUMAN	ornithine decarboxylase antizyme inhibitor	165					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding				0	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			ATGTTACCCTCTTCACCTCCA	0.413		NA											31	69					0	0	0	0
TG	7038	broad.mit.edu	37	8	133898883	133898883	+	Silent	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:133898883C>G	uc003ytw.2	+	9	1307	c.1266C>G	c.(1264-1266)CTC>CTG	p.L422L		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	422					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGGGCTTCTCCGCCCAATGG	0.537		NA											8	228					0	0	0	0
EPPK1	83481	broad.mit.edu	37	8	144943655	144943655	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:144943655G>A	uc003zaa.1	-	1	3780	c.3767C>T	c.(3766-3768)TCT>TTT	p.S1256F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1256	Plectin 21.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTGGCCCCAGAGGGCTGTAG	0.716		NA											10	12					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144990624	144990624	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr8:144990624C>T	uc003zaf.1	-	32	13946	c.13776G>A	c.(13774-13776)GTG>GTA	p.V4592V	PLEC_uc003zab.1_Silent_p.V4455V|PLEC_uc003zac.1_Silent_p.V4459V|PLEC_uc003zad.2_Silent_p.V4455V|PLEC_uc003zae.1_Silent_p.V4423V|PLEC_uc003zag.1_Silent_p.V4433V|PLEC_uc003zah.2_Silent_p.V4441V|PLEC_uc003zaj.2_Silent_p.V4482V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4592	Globular 2.|Plectin 33.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGCCCTCCTCCACCATGCTGC	0.647		NA											5	148					0	0	0	0
IFNA17	3451	broad.mit.edu	37	9	21227646	21227646	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:21227646G>C	uc003zos.1	-	1	576	c.527C>G	c.(526-528)TCT>TGT	p.S176C	IFNA14_uc003zoo.1_Intron	NM_021268	NP_067091	P01571	IFN17_HUMAN	interferon, alpha 17 precursor	176					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGTTGAAAAAGAGAGAGATCT	0.373		NA											78	278					0	0	0	0
KIF24	347240	broad.mit.edu	37	9	34256601	34256601	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:34256601C>T	uc003zua.3	-	11	3124	c.3004G>A	c.(3004-3006)GAC>AAC	p.D1002N	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1002					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			GTGACTGTGTCTCTTTGGTCT	0.537		NA											56	81					0	0	0	0
SIGMAR1	10280	broad.mit.edu	37	9	34635731	34635731	+	Silent	SNP	G	G	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:34635731G>T	uc003zvb.2	-	4	644	c.570C>A	c.(568-570)GTC>GTA	p.V190V	SIGMAR1_uc003zva.3_Silent_p.V170V|SIGMAR1_uc003zuz.2_Silent_p.V101V|SIGMAR1_uc003zvc.2_Silent_p.V159V|SIGMAR1_uc003zvd.2_RNA|SIGMAR1_uc011loo.1_Intron	NM_005866	NP_005857	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	190	Cytoplasmic (Potential).				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding				0					Dextromethorphan(DB00514)	GGGTGCTGAAGACAGTGTCGG	0.617		NA											14	55					0.000151284	0.000202468	1	0
FRMPD1	22844	broad.mit.edu	37	9	37740340	37740340	+	Silent	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:37740340G>C	uc004aag.1	+	15	1859	c.1815G>C	c.(1813-1815)TCG>TCC	p.S605S	FRMPD1_uc004aah.1_Silent_p.S605S|FRMPD1_uc011lqm.1_Silent_p.S427S|FRMPD1_uc011lqn.1_Silent_p.S474S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	605						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CCAGTGGCTCGAGTGAGTCCA	0.637		NA											22	25					0	0	0	0
IARS	3376	broad.mit.edu	37	9	95036734	95036734	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:95036734C>G	uc004art.1	-	10	1221	c.964G>C	c.(964-966)GTC>CTC	p.V322L	IARS_uc004ars.1_Missense_Mutation_p.V167L|IARS_uc004aru.3_Missense_Mutation_p.V322L|IARS_uc010mqr.2_Missense_Mutation_p.V212L|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	322					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	GCTTGGTGGACAACCCCTGTG	0.473		NA											3	129					0	0	0	0
SMC2	10592	broad.mit.edu	37	9	106864358	106864358	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:106864358G>C	uc004bbv.2	+	8	1042	c.754G>C	c.(754-756)GAA>CAA	p.E252Q	SMC2_uc004bbu.1_Missense_Mutation_p.E252Q|SMC2_uc004bbw.2_Missense_Mutation_p.E252Q|SMC2_uc011lvl.1_Missense_Mutation_p.E252Q|SMC2_uc010mtg.1_Missense_Mutation_p.E107Q|SMC2_uc010mth.1_Missense_Mutation_p.E202Q|SMC2_uc004bbx.2_Missense_Mutation_p.E252Q	NM_001042551	NP_001036016	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	252	Potential.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						CTCAGCTGAGGAATTAAAAGA	0.313		NA											16	117					0	0	0	0
OR13C4	138804	broad.mit.edu	37	9	107288808	107288808	+	Missense_Mutation	SNP	G	G	A	rs139144967		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:107288808G>A	uc011lvn.1	-	1	683	c.683C>T	c.(682-684)ACG>ATG	p.T228M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GGCCGAGTTCGTTCGCAAGAT	0.403		NA											66	71					0	0	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111705270	111705270	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:111705270G>C	uc004bdo.1	-	18	2152	c.2110C>G	c.(2110-2112)CTT>GTT	p.L704V	CTNNAL1_uc010mts.1_Missense_Mutation_p.L356V|CTNNAL1_uc010mtt.1_Missense_Mutation_p.L666V|CTNNAL1_uc004bdp.1_Missense_Mutation_p.L704V|CTNNAL1_uc004bdq.1_Missense_Mutation_p.L190V	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	704					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		CAAAGTGAAAGAAGTTGGACT	0.303		NA											19	20					0	0	0	0
GARNL3	84253	broad.mit.edu	37	9	130116626	130116626	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:130116626G>C	uc011mae.1	+	19	2097	c.1696G>C	c.(1696-1698)GAG>CAG	p.E566Q	GARNL3_uc011mad.1_Missense_Mutation_p.E544Q|GARNL3_uc010mxi.2_5'Flank	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	566	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AAAGGGCCTTGAGGGGAAGCA	0.443		NA											25	43					0	0	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165521	134165521	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:134165521C>G	uc004cal.2	+	1	441	c.137C>G	c.(136-138)TCA>TGA	p.S46*		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	46	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TCGGGCCCATCAGCACAGCCC	0.682		NA											9	23					0	0	0	0
GBGT1	26301	broad.mit.edu	37	9	136031310	136031310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:136031310G>A	uc004ccw.2	-	5	483	c.202C>T	c.(202-204)CAG>TAG	p.Q68*	RALGDS_uc011mcw.1_Missense_Mutation_p.S80L|GBGT1_uc004ccx.2_Nonsense_Mutation_p.Q21*|GBGT1_uc010nab.2_Nonsense_Mutation_p.Q68*|GBGT1_uc011mcx.1_Nonsense_Mutation_p.Q51*|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Nonsense_Mutation_p.Q68*	NM_021996	NP_068836	Q8N5D6	GBGT1_HUMAN	globoside	68	Lumenal (Potential).				carbohydrate metabolic process|glycolipid biosynthetic process	Golgi membrane|integral to membrane	metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		AGCTTGGGCTGAGGGTACTGT	0.557		NA											53	61					0	0	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401042	139401042	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:139401042C>G	uc004chz.2	-	24	3951	c.3951G>C	c.(3949-3951)AAG>AAC	p.K1317N	NOTCH1_uc004cia.1_Missense_Mutation_p.K547N	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1317	Extracellular (Potential).|EGF-like 34.				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)		TGCCCCCATTCTTGCAGGGCT	0.687		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			3	17					0	0	0	0
NDOR1	27158	broad.mit.edu	37	9	140109353	140109353	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:140109353C>T	uc004clw.2	+	8	1059	c.948C>T	c.(946-948)CTC>CTT	p.L316L	NDOR1_uc004clx.2_Silent_p.L316L|NDOR1_uc011mes.1_Silent_p.L316L|NDOR1_uc004cly.2_Silent_p.L282L	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	316	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCTTCGAACTCCTGGCCTGTC	0.637		NA											67	47					0	0	0	0
EHMT1	79813	broad.mit.edu	37	9	140728824	140728824	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr9:140728824C>T	uc011mfc.1	+	26	3601	c.3564C>T	c.(3562-3564)GAC>GAT	p.D1188D	EHMT1_uc004coe.2_Silent_p.D93D	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1188	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACTGCATCGACGCGCGGTTCT	0.672		NA											12	37					0	0	0	0
SYAP1	94056	broad.mit.edu	37	X	16774794	16774794	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:16774794C>T	uc004cxp.2	+	7	826	c.733C>T	c.(733-735)CGG>TGG	p.R245W	SYAP1_uc004cxo.2_Missense_Mutation_p.R245W|SYAP1_uc011miv.1_Missense_Mutation_p.R211W	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	SYAP1 protein	245										skin(1)	1	Hepatocellular(33;0.0997)					AGAGGCAGTACGGCCCAAAAC	0.343		NA											12	33					0	0	0	0
MED14	9282	broad.mit.edu	37	X	40534538	40534538	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:40534538A>T	uc004dex.3	-	22	3096	c.2956T>A	c.(2956-2958)TCT>ACT	p.S986T		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	986					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						CCTATAGGAGAAGGGGGATTA	0.423		NA											14	39					0	0	0	0
CACNA1F	778	broad.mit.edu	37	X	49067781	49067781	+	Splice_Site	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:49067781C>A	uc004dnb.2	-	36	4355	c.4293_splice	c.e36+1	p.L1431_splice	CACNA1F_uc010nip.2_Splice_Site_p.L1420_splice	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	ATGGTTCTCACCAGGAAGGCA	0.552		NA											9	31					0.000442599	0.000589399	1	0
AKAP4	8852	broad.mit.edu	37	X	49958650	49958650	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:49958650C>T	uc004dow.1	-	5	838	c.714G>A	c.(712-714)GAG>GAA	p.E238E	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.E60E|AKAP4_uc004dou.1_Silent_p.E229E	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	238					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					CTTCCAACTTCTCCTTGATTT	0.448		NA											30	90					0	0	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424816	69424816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:69424816C>T	uc004dxx.1	+	7	971	c.874C>T	c.(874-876)CCA>TCA	p.P292S		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	292					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(1)	1						GGAACCCCTTCCAATTCCCAG	0.463		NA											10	26					0	0	0	0
P2RY10	27334	broad.mit.edu	37	X	78216842	78216842	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:78216842C>A	uc004ede.2	+	4	1194	c.825C>A	c.(823-825)AGC>AGA	p.S275R	P2RY10_uc004edf.2_Missense_Mutation_p.S275R	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	275	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						CCATCATTAGCAGTTGTCCCG	0.423		NA											80	161					3.37e-29	4.74e-29	1	0
BRWD3	254065	broad.mit.edu	37	X	79975138	79975138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:79975138C>T	uc004edt.2	-	18	2157	c.1894G>A	c.(1894-1896)GAA>AAA	p.E632K	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.E228K|BRWD3_uc004edp.2_Missense_Mutation_p.E461K|BRWD3_uc004edq.2_Missense_Mutation_p.E228K|BRWD3_uc010nmj.1_Missense_Mutation_p.E228K|BRWD3_uc004edr.2_Missense_Mutation_p.E302K|BRWD3_uc004eds.2_Missense_Mutation_p.E228K|BRWD3_uc004edu.2_Missense_Mutation_p.E302K|BRWD3_uc004edv.2_Missense_Mutation_p.E228K|BRWD3_uc004edw.2_Missense_Mutation_p.E228K|BRWD3_uc004edx.2_Missense_Mutation_p.E228K|BRWD3_uc004edy.2_Missense_Mutation_p.E228K|BRWD3_uc004edz.2_Missense_Mutation_p.E302K|BRWD3_uc004eea.2_Missense_Mutation_p.E302K|BRWD3_uc004eeb.2_Missense_Mutation_p.E228K	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	632										ovary(4)	4						ATTACCTGTTCTACTACCTCA	0.358		NA											30	86					0	0	0	0
DIAPH2	1730	broad.mit.edu	37	X	96204003	96204003	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:96204003G>A	uc004efu.3	+	15	1975	c.1579G>A	c.(1579-1581)GAA>AAA	p.E527K	DIAPH2_uc004eft.3_Missense_Mutation_p.E527K	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	527	Potential.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						GAAAATCAAAGAACTTGAAGC	0.373		NA											11	30					0	0	0	0
XKRX	402415	broad.mit.edu	37	X	100169570	100169570	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:100169570G>C	uc004egn.2	-	3	1712	c.1107C>G	c.(1105-1107)TTC>TTG	p.F369L	XKRX_uc011mre.1_Missense_Mutation_p.F165L	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	369	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1						TCACTCCAAAGAACTTAAAAA	0.428		NA											51	114					0	0	0	0
COL4A5	1287	broad.mit.edu	37	X	107925060	107925060	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:107925060C>G	uc004enz.1	+	46	4360	c.4158C>G	c.(4156-4158)ATC>ATG	p.I1386M	COL4A5_uc011mso.1_Missense_Mutation_p.I1383M|COL4A5_uc011msp.1_Missense_Mutation_p.I62M	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1380	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CTCCAGGAATCCCTGGCCAGC	0.443		NA							Alport_syndrome_with_Diffuse_Leiomyomatosis				13	58					0	0	0	0
SLC25A43	203427	broad.mit.edu	37	X	118586986	118586986	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:118586986C>A	uc004erd.2	+	5	1328	c.984C>A	c.(982-984)TTC>TTA	p.F328L	SLC25A43_uc011mtt.1_3'UTR	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	328					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1						TAAAGAAGTTCTTCAAAACGA	0.388		NA											36	82					1.07e-15	1.48e-15	1	0
6-Sep	23157	broad.mit.edu	37	X	118763373	118763373	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:118763373G>A	uc004erv.2	-	9	1453	c.1188C>T	c.(1186-1188)TTC>TTT	p.F396F	SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Silent_p.F396F|SEPT6_uc004ert.2_Silent_p.F396F|SEPT6_uc004eru.2_Silent_p.F396F|SEPT6_uc004erw.2_Silent_p.F338F|SEPT6_uc011mtv.1_Silent_p.F338F|SEPT6_uc011mtw.1_Silent_p.F426F	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	396	Potential.				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4						TTCTTTGCTTGAAAGCATTCA	0.493		NA											67	101					0	0	0	0
ELF4	2000	broad.mit.edu	37	X	129203540	129203540	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:129203540C>T	uc004evd.3	-	8	1307	c.922G>A	c.(922-924)GAA>AAA	p.E308K	ELF4_uc004eve.3_Missense_Mutation_p.E308K	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	308					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTGTGGCTTCGCTGCTCTCA	0.602		NA	T	ERG	AML								11	123					0	0	0	0
SAGE1	55511	broad.mit.edu	37	X	134989482	134989482	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:134989482C>T	uc004ezh.2	+	9	1055	c.888C>T	c.(886-888)GTC>GTT	p.V296V	SAGE1_uc010nry.1_Silent_p.V265V|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	296										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					ATTCCACCGTCCCTCACAATG	0.418		NA											5	82					0	0	0	0
SAGE1	55511	broad.mit.edu	37	X	134991057	134991057	+	Silent	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:134991057G>A	uc004ezh.2	+	13	1643	c.1476G>A	c.(1474-1476)AAG>AAA	p.K492K	SAGE1_uc010nry.1_Silent_p.K461K|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	492										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GTGAAGAGAAGATGGAAAGTG	0.468		NA											32	61					0	0	0	0
ZIC3	7547	broad.mit.edu	37	X	136652129	136652129	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:136652129C>A	uc004fak.2	+	3	1809	c.1304C>A	c.(1303-1305)TCT>TAT	p.S435Y		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	435					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GCTATAGCTTCTGCAAACAGT	0.438		NA											82	146					3.37e-29	4.74e-29	1	0
F9	2158	broad.mit.edu	37	X	138619217	138619217	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:138619217G>A	uc004fas.1	+	2	166	c.137G>A	c.(136-138)AGG>AAG	p.R46K	F9_uc004fat.1_Missense_Mutation_p.R46K	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	46			R -> T (in HEMB; severe).|R -> S (in HEMB; severe; Cambridge).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CGGCCAAAGAGGTATAATTCA	0.323		NA											8	173					0	0	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795394	142795394	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:142795394G>A	uc004fbz.2	-	2	1038	c.284C>T	c.(283-285)TCT>TTT	p.S95F		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	95										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGAAGATCCTTCAGC	0.502		NA											164	354					0	0	0	0
GABRE	2564	broad.mit.edu	37	X	151123391	151123391	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:151123391C>G	uc004ffi.2	-	9	1357	c.1303G>C	c.(1303-1305)GAG>CAG	p.E435Q	GABRE_uc011myd.1_RNA	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	435	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CGGGGACCCTCAGGGCTACCT	0.592		NA											8	19					0	0	0	0
ATP2B3	492	broad.mit.edu	37	X	152845456	152845456	+	Silent	SNP	C	C	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:152845456C>T	uc004fht.1	+	20	3489	c.3363C>T	c.(3361-3363)TTC>TTT	p.F1121F	ATP2B3_uc004fhs.1_Missense_Mutation_p.P1173S|ATP2B3_uc010nuf.1_Silent_p.F258F|ATP2B3_uc004fhu.1_Silent_p.F73F	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1121	Calmodulin-binding subdomain B (By similarity).|Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGAAAGCGTTCCGTAGCTCGC	0.463		NA											51	70					0	0	0	0
EPHA8	2046	broad.mit.edu	37	1	22927210	22927212	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:22927210_22927212delCTC	uc001bfx.1	+	14	2570_2572	c.2445_2447delCTC	c.(2443-2448)TTCTCC>TTC	p.S817del		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	817	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCGCACCTTCTCCTCGGCCAGC	0.665		NA											22	75	---	---	---	---	NA	NA	NA	NA
RCSD1	92241	broad.mit.edu	37	1	167666869	167666872	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr1:167666869_167666872delAAAG	uc001gem.2	+	6	1195_1198	c.1008_1011delAAAG	c.(1006-1011)ACAAAGfs	p.T336fs	RCSD1_uc010pli.1_Frame_Shift_Del_p.T306fs	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	336_337										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					GCCAAGAAACAAAGAAGCTGGAGG	0.554		NA											5	11	---	---	---	---	NA	NA	NA	NA
DDX21	9188	broad.mit.edu	37	10	70737400	70737400	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr10:70737400delG	uc001jov.1	+	12	1948	c.1858delG	c.(1858-1860)GGTfs	p.G620fs	DDX21_uc001jow.1_Frame_Shift_Del_p.G552fs	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	620						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3						CCATATTTCAGGTGCCACGTC	0.502		NA											77	83	---	---	---	---	NA	NA	NA	NA
KRT6A	3853	broad.mit.edu	37	12	52882219	52882220	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr12:52882219_52882220insT	uc001sam.2	-	7	1525_1526	c.1316_1317insA	c.(1315-1317)CAGfs	p.Q439fs		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	439	Rod.|Coil 2.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCCAGGTCCTGCTTGGCCTT	0.624		NA											8	116	---	---	---	---	NA	NA	NA	NA
B2M	567	broad.mit.edu	37	15	45007631	45007632	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr15:45007631_45007632insA	uc001zuc.2	+	2	138_139	c.78_79insA	c.(76-81)AAGATTfs	p.K26fs	B2M_uc010uek.1_Frame_Shift_Ins_p.K26fs|B2M_uc010bdx.1_Frame_Shift_Ins_p.K26fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	26_27	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GTACTCCAAAGATTCAGGTTTA	0.421		NA											35	90	---	---	---	---	NA	NA	NA	NA
CRYBA1	1411	broad.mit.edu	37	17	27581304	27581307	+	Frame_Shift_Del	DEL	GAGA	GAGA	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr17:27581304_27581307delGAGA	uc002hdw.2	+	6	592_595	c.585_588delGAGA	c.(583-588)TGGAGAfs	p.W195fs		NM_005208	NP_005199	P05813	CRBA1_HUMAN	crystallin, beta A3	195_196	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens				0			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATAAACATTGGAGAGAGTGGGGCT	0.441		NA											26	80	---	---	---	---	NA	NA	NA	NA
FOSL2	2355	broad.mit.edu	37	2	28634937	28634938	+	Frame_Shift_Ins	INS	-	-	CCAG			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr2:28634937_28634938insCCAG	uc002rma.2	+	4	1412_1413	c.603_604insCCAG	c.(601-606)CCCCCAfs	p.P201fs	FOSL2_uc010ymi.1_Frame_Shift_Ins_p.P162fs	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	201_202					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					GCCGATCGCCCCCAGCCCCTGG	0.644		NA											11	77	---	---	---	---	NA	NA	NA	NA
CLCN2	1181	broad.mit.edu	37	3	184079208	184079221	+	Frame_Shift_Del	DEL	GGTCTGCTCGTACT	GGTCTGCTCGTACT	-	rs143436017		TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chr3:184079208_184079221delGGTCTGCTCGTACT	uc003foi.2	-	1	171_184	c.47_60delAGTACGAGCAGACC	c.(46-60)CAGTACGAGCAGACCfs	p.Q16fs	CLCN2_uc010hya.1_Frame_Shift_Del_p.Q16fs|CLCN2_uc011brl.1_Frame_Shift_Del_p.Q16fs|CLCN2_uc011brm.1_Frame_Shift_Del_p.Q16fs|CLCN2_uc011brn.1_Frame_Shift_Del_p.Q16fs|POLR2H_uc003foj.1_5'Flank|POLR2H_uc003fok.1_5'Flank	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	16_20	Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CACTTACCAGGGTCTGCTCGTACTGCAGCGCCCG	0.692		NA											9	56	---	---	---	---	NA	NA	NA	NA
NAP1L3	4675	broad.mit.edu	37	X	92927775	92927775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:92927775delC	uc004efq.2	-	1	834	c.529delG	c.(529-531)GTGfs	p.V177fs	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	177	Glu-rich.				nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TTATCCTGCACCTCCTCATCA	0.453		NA											27	74	---	---	---	---	NA	NA	NA	NA
DOCK11	139818	broad.mit.edu	37	X	117707777	117707778	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7099-01A-41D-2012-08	TCGA-CV-7099-10A-01D-2013-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	12a04e68-c814-4a18-a469-d7edc76e362d	2fa45425-c966-45cb-9f21-e4e135882e5a	g.chrX:117707777_117707778insT	uc004eqp.2	+	12	1248_1249	c.1185_1186insT	c.(1183-1188)CCCTTTfs	p.P395fs	DOCK11_uc004eqq.2_Frame_Shift_Ins_p.P161fs	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	395_396					blood coagulation	cytosol	GTP binding			ovary(3)	3						AGGTTGAGCCCTTTTTTATCAA	0.411		NA											52	137	---	---	---	---	NA	NA	NA	NA
